#hg19.snp135.chrom hg19.snp135.chromStart hg19.snp135.chromEnd hg19.snp135.name hg19.snp135.score hg19.snp135.strand hg19.snp135.refNCBI hg19.snp135.refUCSC hg19.snp135.observed hg19.snp135.molType hg19.snp135.class hg19.snp135.valid hg19.snp135.avHet hg19.snp135.avHetSE hg19.snp135.func hg19.snp135.locType hg19.snp135.weight hg19.snp135.exceptions hg19.snp135.submitterCount hg19.snp135.submitters hg19.snp135.alleleFreqCount hg19.snp135.alleles hg19.snp135.alleleNs hg19.snp135.alleleFreqs hg19.snp135.bitfields http://genome.ucsc.edu/goldenPath/help/examples/bigWigExample.bw.chrom http://genome.ucsc.edu/goldenPath/help/examples/bigWigExample.bw.chromStart http://genome.ucsc.edu/goldenPath/help/examples/bigWigExample.bw.chromEnd http://genome.ucsc.edu/goldenPath/help/examples/bigWigExample.bw.valueAverage chr21 34716855 34716856 rs7281992 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.0275 0.113989 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,BUSHMAN,ILLUMINA-UK,PGA-UW-FHCRC, 2 C,T, 2672.000000,18.000000, 0.993309,0.006691, maf-5-some-pop chr21 34716855 34716856 40.000000 chr21 34716949 34716950 rs2843989 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 chr21 34716949 34716950 20.000000 chr21 34716950 34716951 rs2856971 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 chr21 34716950 34716951 40.000000 chr21 34717025 34717026 rs185479896 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717025 34717026 40.000000 chr21 34717070 34717071 rs80084584 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, chr21 34717070 34717071 20.000000 chr21 34717071 34717072 rs67355483 0 + T T -/TTAT genomic in-del unknown 0 0 intron exact 1 ObservedMismatch 1 DEVINE_LAB, 0 chr21 34717071 34717072 20.000000 chr21 34717071 34717071 rs11421099 0 + - - -/T/TTAT genomic mixed by-cluster 0.5 0 intron between 1 InconsistentAlleles 2 DEVINE_LAB,HUMANGENOME_JCVI, 2 -,TTAT, 1.000000,1.000000, 0.500000,0.500000, chr21 34717071 34717071 rs143485157 0 + CT CT -/TTATTTACTTATTTAT genomic in-del by-1000genomes 0 0 intron between 1 ObservedMismatch 1 1000GENOMES, 0 chr21 34717076 34717076 rs71806347 0 + - - -/TTACTTAT genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 chr21 34717078 34717079 rs28513622 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 COMPLETE_GENOMICS,SSAHASNP, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34717078 34717079 0.000000 chr21 34717089 34717089 rs71723772 0 + - - -/TATTTATG genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 chr21 34717099 34717099 rs71901864 0 + - - -/TTTA genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 chr21 34717108 34717109 rs60757412 0 + T T -/ATTT genomic in-del unknown 0 0 intron exact 1 ObservedMismatch 1 HGSV, 0 chr21 34717108 34717109 0.000000 chr21 34717109 34717109 rs71194836 0 + - - -/ATTT genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 ATTT, 2.000000, 1.000000, chr21 34717228 34717229 rs7282848 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002738 0.036902 intron exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 A,G, 6.000000,4370.000000, 0.001371,0.998629, chr21 34717228 34717229 60.000000 chr21 34717308 34717309 rs112453727 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, chr21 34717308 34717309 80.000000 chr21 34717317 34717318 rs182531740 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717317 34717318 60.000000 chr21 34717318 34717319 rs186353859 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717318 34717319 60.000000 chr21 34717389 34717390 rs113093877 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, chr21 34717389 34717390 100.000000 chr21 34717394 34717395 rs147448931 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717394 34717395 80.000000 chr21 34717410 34717411 rs139423725 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717410 34717411 60.000000 chr21 34717502 34717503 rs187965787 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717502 34717503 60.000000 chr21 34717530 34717531 rs180872415 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717530 34717531 20.000000 chr21 34717605 34717606 rs150050372 0 + A A A/C cDNA single by-cluster,by-frequency,by-1000genomes 0.003959 0.044313 missense exact 1 2 1000GENOMES,NHLBI-ESP, 2 A,C, 4529.000000,9.000000, 0.998017,0.001983, chr21 34717605 34717606 20.000000 chr21 34717619 34717619 rs35049505 0 + - - -/G genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 chr21 34717625 34717626 rs35045888 0 + T T A/T genomic single unknown 0 0 missense exact 1 1 ABI, 0 chr21 34717625 34717626 20.000000 chr21 34717627 34717628 rs34849215 0 + T T A/T genomic single unknown 0 0 nonsense exact 1 1 ABI, 0 chr21 34717627 34717628 20.000000 chr21 34717684 34717685 rs185424733 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717684 34717685 0.000000 chr21 34717725 34717726 rs17875880 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016042 0.088111 intron exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 C,T, 2893.000000,37.000000, 0.987372,0.012628, maf-5-some-pop chr21 34717725 34717726 60.000000 chr21 34717895 34717896 rs149190130 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34717895 34717896 20.000000 chr21 34718019 34718020 rs143297277 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718019 34718020 20.000000 chr21 34718032 34718033 rs115308469 0 + A A A/G genomic single by-frequency,by-1000genomes 0.081155 0.184367 intron exact 1 1 1000GENOMES, 2 A,G, 2288.000000,18.000000, 0.992194,0.007806, chr21 34718032 34718033 60.000000 chr21 34718130 34718131 rs146690278 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718130 34718131 20.000000 chr21 34718203 34718204 rs17875821 0 + A A A/G genomic single by-cluster,by-1000genomes 0.024093 0.107079 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 81.000000,1.000000, 0.987805,0.012195, chr21 34718203 34718204 20.000000 chr21 34718313 34718314 rs35938061 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 RIKENSNPRC, 0 chr21 34718313 34718314 80.000000 chr21 34718358 34718359 rs115956014 0 + C C C/T genomic single by-frequency,by-1000genomes 0.033324 0.124705 intron exact 1 1 1000GENOMES, 2 C,T, 2292.000000,14.000000, 0.993929,0.006071, chr21 34718358 34718359 80.000000 chr21 34718359 34718360 rs17875822 0 + G G A/G genomic single unknown 0.023526 0.105875 intron exact 1 1 PGA-UW-FHCRC, 2 A,G, 1.000000,83.000000, 0.011905,0.988095, chr21 34718359 34718360 80.000000 chr21 34718399 34718400 rs12626234 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap 0.013422 0.080814 intron exact 1 2 CSHL-HAPMAP,ENSEMBL, 2 C,G, 294.000000,2.000000, 0.993243,0.006757, chr21 34718399 34718400 40.000000 chr21 34718409 34718410 rs13046501 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 chr21 34718409 34718410 0.000000 chr21 34718428 34718429 rs17875881 0 + A A A/G genomic single by-cluster,by-1000genomes 0.021975 0.102493 intron exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 A,G, 2240.000000,38.000000, 0.983319,0.016681, chr21 34718428 34718429 20.000000 chr21 34718492 34718493 rs183331962 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718492 34718493 40.000000 chr21 34718510 34718511 rs17875882 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.042533 0.13949 intron exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 A,T, 2275.000000,5.000000, 0.997807,0.002193, chr21 34718510 34718511 40.000000 chr21 34718564 34718565 rs187102960 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718564 34718565 80.000000 chr21 34718673 34718674 rs191658383 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718673 34718674 80.000000 chr21 34718744 34718745 rs145266576 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718744 34718745 0.000000 chr21 34718906 34718907 rs183945526 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718906 34718907 60.000000 chr21 34718914 34718915 rs79347769 0 + C C A/C genomic single by-frequency,by-1000genomes 0.032778 0.123752 intron exact 1 1 1000GENOMES, 2 A,C, 23.000000,2285.000000, 0.009965,0.990035, chr21 34718914 34718915 40.000000 chr21 34718919 34718920 rs187918590 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34718919 34718920 20.000000 chr21 34719019 34719020 rs191275052 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719019 34719020 40.000000 chr21 34719066 34719067 rs137868943 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719066 34719067 20.000000 chr21 34719200 34719201 rs140891889 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719200 34719201 0.000000 chr21 34719272 34719273 rs182453300 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719272 34719273 80.000000 chr21 34719437 34719438 rs5843597 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 3 BUSHMAN,DEVINE_LAB,PJP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34719437 34719438 40.000000 chr21 34719437 34719438 rs143432335 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BL, 0 chr21 34719437 34719438 40.000000 chr21 34719442 34719443 rs11318007 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 DEVINE_LAB, 0 chr21 34719442 34719443 0.000000 chr21 34719443 34719444 rs72094085 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 DEVINE_LAB, 0 chr21 34719443 34719444 0.000000 chr21 34719445 34719446 rs5843598 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 DEVINE_LAB, 0 chr21 34719445 34719446 0.000000 chr21 34719447 34719448 rs11335843 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 DEVINE_LAB, 0 chr21 34719447 34719448 0.000000 chr21 34719448 34719449 rs34067309 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 DEVINE_LAB, 0 chr21 34719448 34719449 0.000000 chr21 34719451 34719452 rs77843613 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, chr21 34719451 34719452 20.000000 chr21 34719451 34719453 rs80191435 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 chr21 34719451 34719453 20.000000 chr21 34719452 34719453 rs71194837 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 HUMANGENOME_JCVI,PJP, 1 -, 2.000000, 1.000000, chr21 34719452 34719453 20.000000 chr21 34719453 34719454 rs76484569 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, chr21 34719453 34719454 20.000000 chr21 34719519 34719520 rs4817561 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WI_SSAHASNP, 2 C,T, 2149.000000,43.000000, 0.980383,0.019617, chr21 34719519 34719520 60.000000 chr21 34719521 34719522 rs138605635 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719521 34719522 80.000000 chr21 34719654 34719655 rs17875823 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.182022 0.240581 intron exact 1 3 1000GENOMES,BUSHMAN,PGA-UW-FHCRC, 2 C,T, 2155.000000,112.000000, 0.950595,0.049404, maf-5-some-pop,maf-5-all-pops chr21 34719654 34719655 60.000000 chr21 34719727 34719728 rs13046940 0 + G G A/G genomic single by-frequency,by-1000genomes 0.5 0 intron exact 1 4 1000GENOMES,ABI,ENSEMBL,SSAHASNP, 2 A,G, 48.000000,2144.000000, 0.021898,0.978102, chr21 34719727 34719728 80.000000 chr21 34719734 34719735 rs11700514 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.251791 0.249994 intron exact 1 8 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,KRIBB_YJKIM,PGA-UW-FHCRC, 2 C,T, 3455.000000,615.000000, 0.848894,0.151106, maf-5-some-pop chr21 34719734 34719735 80.000000 chr21 34719994 34719995 rs187143793 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34719994 34719995 0.000000 chr21 34720079 34720080 rs17875825 0 + C C C/T genomic single unknown 0.022469 0.103584 intron exact 1 1 PGA-UW-FHCRC, 2 C,T, 87.000000,1.000000, 0.988636,0.011364, chr21 34720079 34720080 40.000000 chr21 34720090 34720091 rs17875826 0 + A A A/C genomic single unknown 0.022469 0.103584 intron exact 1 1 PGA-UW-FHCRC, 2 A,C, 87.000000,1.000000, 0.988636,0.011364, chr21 34720090 34720091 40.000000 chr21 34720182 34720183 rs7280108 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.323242 0.23903 intron exact 1 7 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,ILLUMINA,KRIBB_YJKIM,PGA-UW-FHCRC, 2 A,G, 380.000000,2987.000000, 0.112860,0.887140, maf-5-some-pop,maf-5-all-pops chr21 34720182 34720183 60.000000 chr21 34720280 34720281 rs192971287 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34720280 34720281 60.000000 chr21 34720312 34720313 rs2834195 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.080984 0.18421 intron exact 1 4 1000GENOMES,CHURCH_CG54K,PERLEGEN,PGA-UW-FHCRC, 2 A,G, 57.000000,2675.000000, 0.020864,0.979136, maf-5-some-pop,maf-5-all-pops chr21 34720312 34720313 80.000000 chr21 34720383 34720384 rs115076232 0 + G G A/G genomic single by-frequency,by-1000genomes 0.033324 0.124705 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,2298.000000, 0.003469,0.996531, chr21 34720383 34720384 20.000000 chr21 34720692 34720693 rs139148218 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34720692 34720693 0.000000 chr21 34720707 34720708 rs71322203 0 + A A -/AA genomic in-del by-cluster 0.5 0 intron exact 1 ObservedMismatch 2 HUMANGENOME_JCVI,PJP, 2 -,AA, 1.000000,1.000000, 0.500000,0.500000, chr21 34720707 34720708 0.000000 chr21 34720708 34720710 rs139925673 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 PJP, 0 chr21 34720708 34720710 0.000000 chr21 34720764 34720765 rs143057315 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34720764 34720765 40.000000 chr21 34720860 34720861 rs17875829 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.201446 0.24524 intron exact 1 3 1000GENOMES,BUSHMAN,PGA-UW-FHCRC, 2 A,G, 2135.000000,141.000000, 0.938049,0.061951, maf-5-some-pop,maf-5-all-pops chr21 34720860 34720861 0.000000 chr21 34720875 34720876 rs185112227 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34720875 34720876 60.000000 chr21 34721036 34721037 rs17875830 0 + A A A/G genomic single by-cluster,by-1000genomes 0.022985 0.104711 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 2266.000000,8.000000, 0.996482,0.003518, chr21 34721036 34721037 80.000000 chr21 34721071 34721072 rs17875831 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.067334 0.170684 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,G, 2237.000000,37.000000, 0.983729,0.016271, maf-5-some-pop,maf-5-all-pops chr21 34721071 34721072 60.000000 chr21 34721159 34721160 rs148504733 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34721159 34721160 20.000000 chr21 34721345 34721346 rs111859779 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, chr21 34721345 34721346 20.000000 chr21 34721347 34721348 rs2834196 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.253694 0.249973 intron exact 1 11 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,CGM_KYOTO,COMPLETE_GENOMICS,ENSEMBL,ILLUMINA,PERLEGEN,PGA-UW-FHCRC,SNP500CANCER, 2 A,G, 2398.000000,434.000000, 0.846751,0.153249, maf-5-some-pop chr21 34721347 34721348 20.000000 chr21 34721384 34721385 rs192907116 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34721384 34721385 0.000000 chr21 34721473 34721474 rs141681155 0 + C C C/T cDNA single unknown 0.000443 0.014876 missense exact 1 1 NHLBI-ESP, 2 C,T, 4513.000000,1.000000, 0.999778,0.000222, chr21 34721473 34721474 60.000000 chr21 34721474 34721475 rs72552386 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005262 0.051023 coding-synon exact 1 3 1000GENOMES,NHLBI-ESP,SNP500CANCER, 2 A,C, 19.000000,7097.000000, 0.002670,0.997330, chr21 34721474 34721475 60.000000 chr21 34721526 34721527 rs17875833 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006937 0.058485 missense exact 1 6 1000GENOMES,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PGA-UW-FHCRC,SNP500CANCER, 2 A,G, 22.000000,7912.000000, 0.002773,0.997227, chr21 34721526 34721527 60.000000 chr21 34721600 34721601 rs189480201 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34721600 34721601 80.000000 chr21 34721636 34721637 rs180819488 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34721636 34721637 40.000000 chr21 34721641 34721642 rs56261250 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 chr21 34721641 34721642 20.000000 chr21 34721681 34721682 rs56226617 0 + A A A/G cDNA single unknown 0 0 intron exact 1 1 CGM_KYOTO, 0 chr21 34721681 34721682 20.000000 chr21 34721707 34721710 rs72552343 0 + TCC TCC -/TCC genomic deletion by-frequency 0.019416 0.096596 frameshift range 1 1 SNP500CANCER, 2 -,TCC, 4.000000,404.000000, 0.009804,0.990196, chr21 34721707 34721710 80.000000 chr21 34721708 34721709 rs112571992 0 + C C C/T genomic single unknown 0.5 0 missense exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34721708 34721709 80.000000 chr21 34721723 34721724 rs117784176 0 + A A A/G cDNA single unknown 0.000453 0.015036 missense exact 1 1 NHLBI-ESP, 2 A,G, 4417.000000,1.000000, 0.999774,0.000226, chr21 34721723 34721724 20.000000 chr21 34721755 34721756 rs151316665 0 + C C C/T cDNA single unknown 0.000445 0.014909 coding-synon exact 1 1 NHLBI-ESP, 2 C,T, 4493.000000,1.000000, 0.999777,0.000223, chr21 34721755 34721756 80.000000 chr21 34721756 34721757 rs139423088 0 + G G A/G cDNA single unknown 0.000444 0.014892 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,4503.000000, 0.000222,0.999778, chr21 34721756 34721757 80.000000 chr21 34721781 34721782 rs17875834 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.152524 0.230214 missense exact 1 7 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PGA-UW-FHCRC,SNP500CANCER, 2 C,T, 9092.000000,766.000000, 0.922297,0.077703, maf-5-some-pop chr21 34721781 34721782 80.000000 chr21 34721889 34721889 rs72549221 0 + - - -/A genomic insertion by-frequency 0.093233 0.194741 intron between 1 1 SNP500CANCER, 2 -,A, 388.000000,20.000000, 0.950980,0.049020, maf-5-some-pop chr21 34722099 34722100 rs142024555 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722099 34722100 80.000000 chr21 34722228 34722229 rs113802899 0 + A A -/A genomic deletion unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, chr21 34722228 34722229 0.000000 chr21 34722295 34722296 rs185174295 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722295 34722296 60.000000 chr21 34722363 34722364 rs189500109 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722363 34722364 40.000000 chr21 34722392 34722393 rs17875835 0 + G G A/G genomic single by-cluster,by-1000genomes 0.02105 0.100409 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 21.000000,2261.000000, 0.009202,0.990798, chr21 34722392 34722393 40.000000 chr21 34722530 34722530 rs34086659 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 chr21 34722568 34722569 rs150692647 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722568 34722569 40.000000 chr21 34722713 34722714 rs181141250 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722713 34722714 20.000000 chr21 34722716 34722717 rs186467173 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722716 34722717 40.000000 chr21 34722773 34722774 rs139926239 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34722773 34722774 100.000000 chr21 34722906 34722908 rs138412758 0 + AC AC -/AC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 chr21 34722906 34722908 40.000000 chr21 34723186 34723187 rs17875836 0 + C C C/T genomic single by-cluster,by-1000genomes 0.022985 0.104711 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,T, 2267.000000,7.000000, 0.996922,0.003078, chr21 34723186 34723187 60.000000 chr21 34723312 34723313 rs191648176 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723312 34723313 60.000000 chr21 34723363 34723364 rs183075699 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723363 34723364 20.000000 chr21 34723390 34723391 rs17875837 0 + A A A/C genomic single by-cluster,by-1000genomes 0.021975 0.102493 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,C, 2257.000000,21.000000, 0.990781,0.009219, chr21 34723390 34723391 20.000000 chr21 34723423 34723424 rs146833454 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723423 34723424 0.000000 chr21 34723467 34723468 rs186418631 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723467 34723468 40.000000 chr21 34723489 34723490 rs17875883 0 + G G A/G genomic single by-cluster,by-1000genomes 0.021503 0.101435 intron exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 A,G, 7.000000,2273.000000, 0.003070,0.996930, chr21 34723489 34723490 80.000000 chr21 34723493 34723494 rs2243599 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.496185 0.043509 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,WI_SSAHASNP,YUSUKE, 2 G,T, 2581.000000,2469.000000, 0.511089,0.488911, maf-5-some-pop,maf-5-all-pops,genotype-conflict chr21 34723493 34723494 20.000000 chr21 34723533 34723534 rs2834197 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.10015 0.200112 intron exact 1 6 1000GENOMES,CHURCH_CG54K,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC, 2 C,T, 3396.000000,116.000000, 0.966970,0.033030, maf-5-some-pop chr21 34723533 34723534 80.000000 chr21 34723660 34723661 rs2243600 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.384082 0.211464 intron exact 1 InconsistentAlleles 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,SSAHASNP,WI_SSAHASNP,YUSUKE, 3 G,N,T, 3768.000000,1.000000,1368.000000, 0.733502,0.000195,0.266303, maf-5-some-pop,genotype-conflict chr21 34723660 34723661 0.000000 chr21 34723803 34723804 rs144023707 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723803 34723804 60.000000 chr21 34723836 34723836 rs72197957 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 chr21 34723862 34723863 rs144910940 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34723862 34723863 0.000000 chr21 34723871 34723872 rs76665724 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,ENSEMBL, 2 G,T, 49.000000,2141.000000, 0.022374,0.977626, chr21 34723871 34723872 40.000000 chr21 34724102 34724103 rs17875841 0 + A A A/G genomic single by-cluster,by-1000genomes 0.022469 0.103584 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 2267.000000,9.000000, 0.996046,0.003954, chr21 34724102 34724103 0.000000 chr21 34724104 34724105 rs118172663 0 + A A A/G genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 A,G, 2306.000000,2.000000, 0.999133,0.000867, chr21 34724104 34724105 0.000000 chr21 34724129 34724130 rs73364242 0 + A A A/G genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 2181.000000,9.000000, 0.995890,0.004110, chr21 34724129 34724130 20.000000 chr21 34724149 34724150 rs182190655 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724149 34724150 60.000000 chr21 34724162 34724163 rs17875884 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.061793 0.164554 intron exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA,PGA-UW-FHCRC, 2 A,C, 9.000000,2273.000000, 0.003944,0.996056, chr21 34724162 34724163 80.000000 chr21 34724255 34724256 rs17875842 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.065857 0.16909 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,C, 49.000000,2227.000000, 0.021529,0.978471, maf-5-some-pop,maf-5-all-pops chr21 34724255 34724256 80.000000 chr21 34724381 34724382 rs77499692 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006378 0.05611 intron exact 1 1 1000GENOMES, 2 A,G, 4362.000000,14.000000, 0.996801,0.003199, chr21 34724381 34724382 40.000000 chr21 34724400 34724401 rs146983841 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724400 34724401 40.000000 chr21 34724412 34724413 rs188009597 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724412 34724413 60.000000 chr21 34724431 34724432 rs192386008 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724431 34724432 0.000000 chr21 34724439 34724440 rs183068634 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724439 34724440 80.000000 chr21 34724495 34724496 rs17875843 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042533 0.13949 intron exact 1 3 1000GENOMES,BUSHMAN,PGA-UW-FHCRC, 2 A,G, 2274.000000,6.000000, 0.997368,0.002632, chr21 34724495 34724496 60.000000 chr21 34724603 34724604 rs188012345 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724603 34724604 20.000000 chr21 34724713 34724714 rs62226370 0 + G G A/G genomic single by-1000genomes 0.5 0 intron exact 1 3 1000GENOMES,BCMHGSC_JDW,ENSEMBL, 2 A,G, 27.000000,2163.000000, 0.012329,0.987671, chr21 34724713 34724714 80.000000 chr21 34724767 34724768 rs147057264 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724767 34724768 80.000000 chr21 34724769 34724770 rs138180316 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724769 34724770 80.000000 chr21 34724823 34724824 rs17875844 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.096835 0.197586 intron exact 1 4 1000GENOMES,BUSHMAN,HGSV,PGA-UW-FHCRC, 2 G,T, 2266.000000,20.000000, 0.991251,0.008749, maf-5-some-pop,maf-5-all-pops chr21 34724823 34724824 60.000000 chr21 34724868 34724869 rs149560617 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724868 34724869 60.000000 chr21 34724872 34724873 rs144208924 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724872 34724873 60.000000 chr21 34724911 34724912 rs184491960 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34724911 34724912 0.000000 chr21 34724912 34724913 rs72287799 0 + A A -/AAAAC genomic in-del unknown 0.5 0 intron exact 1 ObservedMismatch 2 BUSHMAN,DEVINE_LAB, 2 -,AAAAC, 1.000000,1.000000, 0.500000,0.500000, chr21 34724912 34724913 0.000000 chr21 34724920 34724925 rs10565233 0 + ACAAA ACAAA -/ACAAA genomic deletion unknown 0 0 intron range 1 1 DEVINE_LAB, 0 chr21 34724920 34724925 20.000000 chr21 34724946 34724947 rs7277786 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BCM_SSAHASNP, 1 A, 420.000000, 1.000000, chr21 34724946 34724947 40.000000 chr21 34725001 34725002 rs17875845 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.102788 0.202061 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,T, 2229.000000,51.000000, 0.977632,0.022368, maf-5-some-pop,maf-5-all-pops chr21 34725001 34725002 60.000000 chr21 34725089 34725090 rs17875885 0 + T T C/T genomic single by-cluster,by-frequency 0.002712 0.036721 coding-synon exact 1 5 ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PGA-UW-FHCRC,SNP500CANCER, 2 C,T, 7.000000,5149.000000, 0.001358,0.998642, chr21 34725089 34725090 40.000000 chr21 34725177 34725178 rs11544557 0 - G G A/C genomic single by-cluster 0 0 missense exact 1 SingleAlleleFreq 2 CGAP-GAI,SNP500CANCER, 1 C, 396.000000, 1.000000, chr21 34725177 34725178 40.000000 chr21 34725298 34725298 rs71749836 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 chr21 34725359 34725360 rs17875846 0 + A A A/C genomic single by-cluster,by-1000genomes 0.004175 0.0455 intron exact 1 3 1000GENOMES,PGA-UW-FHCRC,SNP500CANCER, 2 A,C, 2652.000000,14.000000, 0.994749,0.005251, chr21 34725359 34725360 20.000000 chr21 34725389 34725390 rs2834198 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.081373 0.184567 intron exact 1 NonIntegerChromCount 7 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,SNP500CANCER, 2 C,T, 3967.010010,126.989998, 0.968981,0.031019, maf-5-some-pop,genotype-conflict chr21 34725389 34725390 40.000000 chr21 34725390 34725391 rs34833954 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,ILLUMINA,RIKENSNPRC, 2 A,G, 9.000000,2183.000000, 0.004106,0.995894, chr21 34725390 34725391 40.000000 chr21 34725467 34725468 rs914141 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.232302 0.249373 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,SSAHASNP,TSC-CSHL, 2 G,T, 2409.000000,435.000000, 0.847046,0.152954, maf-5-some-pop chr21 34725467 34725468 20.000000 chr21 34725590 34725590 rs34742406 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 chr21 34725747 34725748 rs117954151 0 + T T G/T genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,2306.000000, 0.000867,0.999133, chr21 34725747 34725748 60.000000 chr21 34725783 34725784 rs118092655 0 + A A A/G genomic single by-frequency,by-1000genomes 0.032778 0.123752 intron exact 1 1 1000GENOMES, 2 A,G, 2305.000000,3.000000, 0.998700,0.001300, chr21 34725783 34725784 40.000000 chr21 34725806 34725807 rs914142 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.257513 0.249887 intron exact 1 NonIntegerChromCount 23 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,SNP500CANCER,SSAHASNP,TSC-CSHL, 2 A,G, 4263.850098,784.145996, 0.844662,0.155338, maf-5-some-pop chr21 34725806 34725807 60.000000 chr21 34726014 34726015 rs142424349 0 + G G A/G cDNA single unknown 0.00044 0.01483 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,4541.000000, 0.000220,0.999780, chr21 34726014 34726015 20.000000 chr21 34726019 34726020 rs80214730 0 + G G A/G cDNA single by-cluster,by-frequency,by-1000genomes 0.01616 0.088423 coding-synon exact 1 3 1000GENOMES,NHLBI-ESP,SEATTLESEQ, 2 A,G, 50.000000,6680.000000, 0.007429,0.992571, chr21 34726019 34726020 80.000000 chr21 34726020 34726021 rs74695849 0 + A A A/G genomic single unknown 0 0 missense exact 1 1 ILLUMINA, 0 chr21 34726020 34726021 20.000000 chr21 34726126 34726127 rs2856973 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.225225 0.248769 intron exact 1 22 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 4936.000000,793.000000, 0.861581,0.138419, maf-5-some-pop chr21 34726126 34726127 20.000000 chr21 34726145 34726146 rs146369457 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34726145 34726146 20.000000 chr21 34726158 34726159 rs2856974 0 + G G G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 G, 416.000000, 1.000000, chr21 34726158 34726159 60.000000 chr21 34726165 34726166 rs17875850 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.070494 0.174004 intron exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 37.000000,2233.000000, 0.016300,0.983700, maf-5-some-pop,maf-5-all-pops chr21 34726165 34726166 60.000000 chr21 34726229 34726230 rs2254180 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.335467 0.234937 intron exact 1 14 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PERLEGEN,PGA-UW-FHCRC,PJP,RIKENSNPRC,SC_JCM,SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 777.000000,2701.000000, 0.223404,0.776596, maf-5-some-pop,maf-5-all-pops chr21 34726229 34726230 20.000000 chr21 34726346 34726347 rs76397563 0 + G G A/G genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 5.000000,2185.000000, 0.002283,0.997717, chr21 34726346 34726347 40.000000 chr21 34726508 34726509 rs144059103 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34726508 34726509 80.000000 chr21 34726596 34726597 rs17875886 0 + G G A/G genomic single unknown 0.024093 0.107079 intron exact 1 1 PGA-UW-FHCRC, 2 A,G, 1.000000,81.000000, 0.012195,0.987805, chr21 34726596 34726597 80.000000 chr21 34726613 34726614 rs150956469 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34726613 34726614 60.000000 chr21 34726747 34726748 rs114441765 0 + A A A/G genomic single by-frequency,by-1000genomes 0.049555 0.149404 intron exact 1 1 1000GENOMES, 2 A,G, 2298.000000,8.000000, 0.996531,0.003469, chr21 34726747 34726748 40.000000 chr21 34726802 34726803 rs189229688 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34726802 34726803 60.000000 chr21 34726866 34726867 rs192636192 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34726866 34726867 20.000000 chr21 34726867 34726868 rs17875852 0 + A A -/A genomic deletion by-frequency 0.183626 0.241028 intron exact 1 1 PGA-UW-FHCRC, 2 -,A, 79.000000,9.000000, 0.897727,0.102273, maf-5-some-pop,maf-5-all-pops chr21 34726867 34726868 20.000000 chr21 34727014 34727015 rs7279125 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.041413 0.137809 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,BUSHMAN,ILLUMINA-UK,PGA-UW-FHCRC, 2 A,C, 2682.000000,26.000000, 0.990399,0.009601, maf-5-some-pop chr21 34727014 34727015 40.000000 chr21 34727230 34727231 rs2254305 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.249799 0.25 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PGA-UW-FHCRC,PJP,SC_JCM,SC_SNP,SSAHASNP, 2 C,T, 447.000000,2404.000000, 0.156787,0.843213, maf-5-some-pop chr21 34727230 34727231 20.000000 chr21 34727251 34727252 rs1041867 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497818 0.032962 intron exact 1 21 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,RIKENSNPRC,SSAHASNP,TSC-CSHL, 2 G,T, 2157.000000,2256.000000, 0.488783,0.511217, maf-5-some-pop,maf-5-all-pops chr21 34727251 34727252 20.000000 chr21 34727296 34727307 rs34554477 0 + AAAAAAAAAAA AAAAAAAAAAA (A)9/11 genomic microsatellite unknown 0 0 intron range 1 1 RIKENSNPRC, 0 observed-mismatch chr21 34727296 34727307 14.545455 chr21 34727321 34727322 rs149668650 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34727321 34727322 60.000000 chr21 34727329 34727330 rs1041868 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.372036 0.218191 intron exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,CHURCH_CG54K,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PGA-UW-FHCRC,PJP,RIKENSNPRC,SC_JCM,SC_SNP,TSC-CSHL,WUGSC_SSAHASNP, 2 A,G, 1016.000000,3208.000000, 0.240530,0.759470, maf-5-some-pop,maf-5-all-pops chr21 34727329 34727330 100.000000 chr21 34727334 34727335 rs111578791 0 + T T 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, chr21 34727334 34727335 60.000000 chr21 34727365 34727366 rs184755883 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34727365 34727366 60.000000 chr21 34727486 34727487 rs2254315 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.346735 0.230526 intron exact 1 18 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC,PJP,RIKENSNPRC,SC_JCM,SC_SNP,SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3404.000000,1002.000000, 0.772583,0.227417, maf-5-some-pop,maf-5-all-pops chr21 34727486 34727487 80.000000 chr21 34727515 34727516 rs2834199 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.057008 0.158915 intron exact 1 3 1000GENOMES,PERLEGEN,PGA-UW-FHCRC, 2 A,G, 72.000000,3410.000000, 0.020678,0.979322, maf-5-some-pop chr21 34727515 34727516 40.000000 chr21 34727537 34727538 rs189352826 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 chr21 34727537 34727538 20.000000 chr21 34727650 34727651 rs147871209 0 + T T C/T cDNA single unknown 0.000542 0.016451 coding-synon exact 1 1 NHLBI-ESP, 2 C,T, 1.000000,3689.000000, 0.000271,0.999729, chr21 34727650 34727651 60.000000 chr21 34727672 34727673 rs150725396 0 + C C A/C genomic single unknown 0 0 missense exact 1 1 YSAMUELS, 0 clinically-assoc,submitted-by-lsdb chr21 34727672 34727673 20.000000 chr21 34727676 34727677 rs113181057 0 + T T C/T genomic single unknown 0.5 0 missense exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34727676 34727677 40.000000 chr21 34727850 34727851 rs141582204 0 + T T C/T cDNA single unknown 0.000477 0.01544 missense exact 1 1 NHLBI-ESP, 2 C,T, 1.000000,4189.000000, 0.000239,0.999761, chr21 34727850 34727851 20.000000 chr21 34727882 34727883 rs113668823 0 + G G A/G genomic single unknown 0.5 0 untranslated-3 exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, chr21 34727882 34727883 40.000000 chr21 34727906 34727907 rs1803789 0 + G G G/T cDNA single unknown 0 0 untranslated-3 exact 1 1 HGBASE, 2 G,T, 252.000000,0.000000, 1.000000,0.000000, chr21 34727906 34727907 80.000000 chr21 34727923 34727924 rs145435605 0 + C C C/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34727923 34727924 60.000000 chr21 34728114 34728114 rs34709725 0 + - - -/T genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 chr21 34728200 34728201 rs11910076 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.119511 0.213243 untranslated-3 exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,PGA-UW-FHCRC, 2 A,T, 39.000000,2243.000000, 0.017090,0.982910, maf-5-some-pop,maf-5-all-pops chr21 34728200 34728201 40.000000 chr21 34728236 34728237 rs11909934 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.121928 0.214704 untranslated-3 exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,PGA-UW-FHCRC, 2 A,G, 38.000000,2242.000000, 0.016667,0.983333, maf-5-some-pop,maf-5-all-pops chr21 34728236 34728237 60.000000 chr21 34728248 34728249 rs180879239 0 + G G G/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728248 34728249 60.000000 chr21 34728348 34728349 rs147623193 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728348 34728349 40.000000 chr21 34728438 34728439 rs74717635 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032778 0.123752 untranslated-3 exact 1 2 1000GENOMES,GMI, 2 C,T, 2286.000000,22.000000, 0.990468,0.009532, chr21 34728438 34728439 80.000000 chr21 34728442 34728443 rs184730135 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728442 34728443 80.000000 chr21 34728443 34728444 rs73364247 0 + G G G/T genomic single by-cluster,by-1000genomes 0.5 0 untranslated-3 exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 G,T, 2181.000000,9.000000, 0.995890,0.004110, chr21 34728443 34728444 80.000000 chr21 34728460 34728461 rs189766456 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728460 34728461 40.000000 chr21 34728464 34728465 rs143733167 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728464 34728465 40.000000 chr21 34728502 34728503 rs148116497 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728502 34728503 60.000000 chr21 34728651 34728652 rs77188562 0 + G G G/T genomic single unknown 0 0 untranslated-3 exact 1 1 GMI, 0 chr21 34728651 34728652 40.000000 chr21 34728652 34728653 rs75956434 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 1 GMI, 0 chr21 34728652 34728653 40.000000 chr21 34728653 34728654 rs76519737 0 + A A A/T genomic single unknown 0 0 untranslated-3 exact 1 1 GMI, 0 chr21 34728653 34728654 40.000000 chr21 34728678 34728679 rs17875887 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029505 0.117822 untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,KRIBB_YJKIM,PGA-UW-FHCRC, 2 A,G, 17.000000,3039.000000, 0.005563,0.994437, chr21 34728678 34728679 60.000000 chr21 34728684 34728685 rs112756879 0 + A A A/C genomic single by-1000genomes 0 0 untranslated-3 exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 2186.000000,3.000000, 0.998630,0.001370, chr21 34728684 34728685 20.000000 chr21 34728771 34728772 rs186203933 0 + C C C/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728771 34728772 20.000000 chr21 34728781 34728782 rs17875860 0 + G G A/G genomic single by-cluster,by-frequency 0.013985 0.082444 untranslated-3 exact 1 3 ILLUMINA,KRIBB_YJKIM,PGA-UW-FHCRC, 2 A,G, 2.000000,282.000000, 0.007042,0.992958, chr21 34728781 34728782 60.000000 chr21 34728827 34728828 rs909141 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 G, 420.000000, 1.000000, chr21 34728827 34728828 40.000000 chr21 34728978 34728979 rs140966052 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34728978 34728979 40.000000 chr21 34728998 34728999 rs2834200 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.076967 0.180443 untranslated-3 exact 1 8 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC, 2 A,G, 87.000000,3423.000000, 0.024786,0.975214, maf-5-some-pop chr21 34728998 34728999 20.000000 chr21 34729015 34729016 rs190977407 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729015 34729016 40.000000 chr21 34729020 34729021 rs150199046 0 + T T C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729020 34729021 40.000000 chr21 34729105 34729106 rs181822544 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729105 34729106 80.000000 chr21 34729106 34729107 rs187189466 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729106 34729107 80.000000 chr21 34729170 34729171 rs17875862 0 + A A A/G genomic single by-cluster,by-1000genomes 0.02105 0.100409 untranslated-3 exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 A,G, 2268.000000,14.000000, 0.993865,0.006135, chr21 34729170 34729171 40.000000 chr21 34729232 34729233 rs17875863 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.172933 0.237825 untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,KRIBB_YJKIM,PGA-UW-FHCRC, 2 A,G, 222.000000,3514.000000, 0.059422,0.940578, maf-5-some-pop chr21 34729232 34729233 60.000000 chr21 34729253 34729254 rs190868571 0 + C C A/C genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729253 34729254 80.000000 chr21 34729310 34729311 rs138687780 0 + T T C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729310 34729311 20.000000 chr21 34729327 34729328 rs116047600 0 + A A A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729327 34729328 40.000000 chr21 34729376 34729377 rs2834201 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.072504 0.176055 untranslated-3 exact 1 6 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PGA-UW-FHCRC, 2 G,T, 3840.000000,100.000000, 0.974619,0.025381, maf-5-some-pop chr21 34729376 34729377 20.000000 chr21 34729399 34729400 rs17875888 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.061793 0.164554 untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 C,G, 16.000000,2266.000000, 0.007011,0.992989, maf-5-some-pop chr21 34729399 34729400 80.000000 chr21 34729470 34729471 rs146387063 0 + A A A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729470 34729471 60.000000 chr21 34729480 34729481 rs17875865 0 + C C C/G genomic single unknown 0.021503 0.101435 untranslated-3 exact 1 1 PGA-UW-FHCRC, 2 C,G, 91.000000,1.000000, 0.989130,0.010870, chr21 34729480 34729481 60.000000 chr21 34729483 34729484 rs6517166 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.037971 0.132452 untranslated-3 exact 1 8 1000GENOMES,BCM_SSAHASNP,BUSHMAN,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PGA-UW-FHCRC,WI_SSAHASNP, 2 C,T, 3338.000000,38.000000, 0.988744,0.011256, maf-5-some-pop chr21 34729483 34729484 60.000000 chr21 34729527 34729528 rs138450588 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729527 34729528 80.000000 chr21 34729623 34729624 rs142945758 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729623 34729624 80.000000 chr21 34729628 34729629 rs144316209 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729628 34729629 80.000000 chr21 34729660 34729661 rs148638441 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729660 34729661 40.000000 chr21 34729666 34729667 rs78206899 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00365 0.042562 untranslated-3 exact 1 2 1000GENOMES,GMI, 2 C,T, 4368.000000,8.000000, 0.998172,0.001828, chr21 34729666 34729667 60.000000 chr21 34729694 34729695 rs182727976 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34729694 34729695 60.000000 chr21 34729706 34729707 rs115068570 0 + G G A/G genomic single by-frequency,by-1000genomes 0.033324 0.124705 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 13.000000,2293.000000, 0.005637,0.994363, chr21 34729706 34729707 80.000000 chr21 34729827 34729828 rs116702860 0 + C C C/T genomic single by-frequency,by-1000genomes 0.033324 0.124705 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 2270.000000,36.000000, 0.984389,0.015611, chr21 34729827 34729828 60.000000 chr21 34729835 34729836 rs76119037 0 + G G G/T genomic single unknown 0.5 0 untranslated-3 exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34729835 34729836 20.000000 chr21 34729836 34729837 rs71322204 0 + T T -/T genomic deletion unknown 0.5 0 untranslated-3 exact 1 1 HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34729836 34729837 20.000000 chr21 34729838 34729839 rs79979883 0 + T T G/T genomic single unknown 0 0 untranslated-3 exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, chr21 34729838 34729839 20.000000 chr21 34729850 34729851 rs36125058 0 + T T -/T genomic deletion by-cluster 0 0 untranslated-3 exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, chr21 34729850 34729851 40.000000 chr21 34729922 34729923 rs17875867 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.176512 0.238955 untranslated-3 exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,T, 2165.000000,115.000000, 0.949561,0.050439, maf-5-some-pop,maf-5-all-pops chr21 34729922 34729923 100.000000 chr21 34730075 34730076 rs17875868 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042533 0.13949 untranslated-3 exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,T, 2244.000000,36.000000, 0.984211,0.015789, chr21 34730075 34730076 80.000000 chr21 34730079 34730080 rs17875869 0 + C C C/T genomic single by-cluster,by-1000genomes 0.021503 0.101435 untranslated-3 exact 1 2 1000GENOMES,PGA-UW-FHCRC, 2 C,T, 2267.000000,13.000000, 0.994298,0.005702, chr21 34730079 34730080 80.000000 chr21 34730093 34730093 rs34579816 0 + - - -/C genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 chr21 34730255 34730256 rs188247519 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730255 34730256 60.000000 chr21 34730301 34730302 rs17875889 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042533 0.13949 untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,PGA-UW-FHCRC, 2 C,T, 2247.000000,33.000000, 0.985526,0.014474, chr21 34730301 34730302 60.000000 chr21 34730349 34730350 rs145323256 0 + A A A/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730349 34730350 60.000000 chr21 34730424 34730425 rs147639443 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730424 34730425 60.000000 chr21 34730429 34730430 rs17875870 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.0768 0.180282 untranslated-3 exact 1 3 1000GENOMES,CHURCH_CG54K,PGA-UW-FHCRC, 2 A,G, 2250.000000,38.000000, 0.983392,0.016608, maf-5-some-pop,maf-5-all-pops chr21 34730429 34730430 20.000000 chr21 34730459 34730460 rs142233198 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730459 34730460 60.000000 chr21 34730500 34730501 rs149720401 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730500 34730501 40.000000 chr21 34730531 34730532 rs190206571 0 + G G C/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730531 34730532 80.000000 chr21 34730602 34730603 rs182824129 0 + G G A/G genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730602 34730603 20.000000 chr21 34730639 34730640 rs145551344 0 + T T C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730639 34730640 40.000000 chr21 34730692 34730696 rs141601938 0 + AGAG AGAG -/AGAG genomic deletion by-cluster,by-1000genomes 0 0 untranslated-3 range 1 2 1000GENOMES,PJP, 0 chr21 34730692 34730696 30.000000 chr21 34730695 34730699 rs17875871 0 + GAGA GAGA -/GAGA genomic deletion by-cluster,by-frequency 0.21875 0.248039 untranslated-3 range 1 4 CGM_KYOTO,DEVINE_LAB,ILLUMINA,PGA-UW-FHCRC, 2 -,GAGA, 11.000000,77.000000, 0.125000,0.875000, maf-5-some-pop,maf-5-all-pops chr21 34730695 34730699 60.000000 chr21 34730745 34730746 rs187251041 0 + C C A/C genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730745 34730746 60.000000 chr21 34730863 34730864 rs149169161 0 + C C C/T genomic single by-1000genomes 0 0 untranslated-3 exact 1 1 1000GENOMES, 0 chr21 34730863 34730864 60.000000 chr21 34730902 34730902 rs35166284 0 + - - -/A genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 chr21 34730953 34730954 rs2834202 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.258342 0.249861 untranslated-3 exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGM_KYOTO,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3498.000000,652.000000, 0.842892,0.157108, maf-5-some-pop chr21 34730953 34730954 20.000000 chr21 34730986 34730987 rs12627216 0 + A A A/G genomic single by-hapmap 0 0 untranslated-3 exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 A, 420.000000, 1.000000, chr21 34730986 34730987 20.000000 chr21 34731107 34731108 rs35533087 0 + T T C/T genomic single by-frequency,by-1000genomes 0.444444 0.157135 untranslated-3 exact 1 3 1000GENOMES,ABI,ENSEMBL, 2 C,T, 36.000000,2158.000000, 0.016408,0.983592, maf-5-some-pop,maf-5-all-pops chr21 34731107 34731108 40.000000 chr21 34731163 34731163 rs34774717 0 + - - -/T genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 chr21 34731166 34731166 rs34394035 0 + - - -/A genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 chr21 34731251 34731252 rs73900320 0 + C C C/G genomic single by-cluster,by-1000genomes 0.5 0 untranslated-3 exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,G, 2182.000000,8.000000, 0.996347,0.003653, chr21 34731251 34731252 40.000000 chr21 34731467 34731467 rs146173990 0 + GT GT -/GGTTTTTTTT genomic in-del by-cluster,by-1000genomes 0 0 untranslated-3 between 1 ObservedMismatch 1 1000GENOMES, 0 chr21 34731733 34731733 rs150679180 0 + TG TG -/G genomic in-del by-1000genomes 0 0 untranslated-3 between 1 ObservedMismatch 1 1000GENOMES, 0 observed-mismatch chr21 34731825 34731826 rs116519917 0 + A A A/G genomic single by-frequency,by-1000genomes 0.196064 0.244113 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 2247.000000,59.000000, 0.974415,0.025585, maf-5-some-pop,maf-5-all-pops chr21 34731825 34731826 60.000000 chr21 34731928 34731929 rs2843998 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 SingleAlleleFreq 1 SC_JCM, 1 G, 420.000000, 1.000000, chr21 34731928 34731929 60.000000 chr21 34731986 34731987 rs117070822 0 + G G C/G genomic single by-1000genomes 0.016528 0.089391 untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 10.000000,2298.000000, 0.004333,0.995667, chr21 34731986 34731987 40.000000 chr21 34732042 34732043 rs76779730 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006378 0.05611 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 14.000000,4362.000000, 0.003199,0.996801, chr21 34732042 34732043 40.000000 chr21 34732113 34732114 rs117254882 0 + C C A/C genomic single by-1000genomes 0.016528 0.089391 untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 5.000000,2303.000000, 0.002166,0.997834, chr21 34732113 34732114 60.000000 chr21 34732265 34732266 rs11908899 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.013244 0.080292 near-gene-3 exact 1 4 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, 2 C,T, 48.000000,2440.000000, 0.019293,0.980707, maf-5-some-pop,maf-5-all-pops chr21 34732265 34732266 20.000000 chr21 34732268 34732269 rs192175664 0 + A A A/T genomic single by-1000genomes 0 0 near-gene-3 exact 1 1 1000GENOMES, 0 chr21 34732268 34732269 20.000000 chr21 34732443 34732444 rs184537477 0 + G G A/G genomic single by-1000genomes 0 0 near-gene-3 exact 1 1 1000GENOMES, 0 chr21 34732443 34732444 40.000000 chr21 34732522 34732523 rs11908745 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.041164 0.137431 near-gene-3 exact 1 2 1000GENOMES,CSHL-HAPMAP, 2 A,G, 4284.000000,92.000000, 0.978976,0.021024, chr21 34732522 34732523 60.000000 chr21 34732565 34732566 rs12626220 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.5 0 near-gene-3 exact 1 9 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HGSV,HUMANGENOME_JCVI,PJP, 2 A,G, 510.000000,1692.000000, 0.231608,0.768392, chr21 34732565 34732566 80.000000 chr21 34732578 34732579 rs138483913 0 + C C C/T genomic single by-1000genomes 0 0 near-gene-3 exact 1 1 1000GENOMES, 0 chr21 34732578 34732579 40.000000 chr21 34732643 34732644 rs143010303 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732643 34732644 80.000000 chr21 34732651 34732652 rs188819986 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732651 34732652 60.000000 chr21 34732702 34732703 rs71322205 0 + T T -/T genomic deletion by-cluster 0.5 0 unknown exact 1 2 GMI,HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, chr21 34732702 34732703 20.000000 chr21 34732707 34732708 rs192702167 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732707 34732708 0.000000 chr21 34732708 34732709 rs71929997 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 DEVINE_LAB, 0 chr21 34732708 34732709 0.000000 chr21 34732716 34732717 rs72343807 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 DEVINE_LAB, 0 chr21 34732716 34732717 20.000000 chr21 34732726 34732727 rs115742441 0 + A A A/G genomic single by-frequency,by-1000genomes 0.140908 0.224942 unknown exact 1 1 1000GENOMES, 2 A,G, 2251.000000,55.000000, 0.976149,0.023851, maf-5-some-pop,maf-5-all-pops chr21 34732726 34732727 40.000000 chr21 34732793 34732794 rs150672151 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732793 34732794 60.000000 chr21 34732823 34732824 rs138871805 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732823 34732824 80.000000 chr21 34732945 34732946 rs149279677 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34732945 34732946 40.000000 chr21 34732991 34732992 rs13050444 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 chr21 34732991 34732992 40.000000 chr21 34733035 34733036 rs184547337 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733035 34733036 40.000000 chr21 34733049 34733050 rs144495706 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733049 34733050 20.000000 chr21 34733076 34733077 rs78406477 0 + C C C/T genomic single by-1000genomes 0.152778 0.230321 unknown exact 1 2 1000GENOMES,CHURCH_CG54K, 2 C,T, 2153.000000,47.000000, 0.978636,0.021364, maf-5-some-pop,maf-5-all-pops chr21 34733076 34733077 60.000000 chr21 34733093 34733094 rs114712791 0 + G G G/T genomic single by-frequency,by-1000genomes 0.049555 0.149404 unknown exact 1 1 1000GENOMES, 2 G,T, 2299.000000,7.000000, 0.996964,0.003036, chr21 34733093 34733094 60.000000 chr21 34733144 34733145 rs189761243 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733144 34733145 60.000000 chr21 34733155 34733156 rs13049802 0 + C C C/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 SSAHASNP, 1 C, 420.000000, 1.000000, chr21 34733155 34733156 40.000000 chr21 34733259 34733260 rs117044985 0 + G G A/G genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,2305.000000, 0.001300,0.998700, chr21 34733259 34733260 100.000000 chr21 34733315 34733316 rs78133704 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00365 0.042562 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 8.000000,4368.000000, 0.001828,0.998172, chr21 34733315 34733316 40.000000 chr21 34733321 34733322 rs117494686 0 + G G G/T genomic single by-frequency,by-1000genomes 0.079861 0.183174 unknown exact 1 1 1000GENOMES, 2 G,T, 2271.000000,37.000000, 0.983969,0.016031, chr21 34733321 34733322 60.000000 chr21 34733450 34733451 rs71323368 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 unknown exact 1 3 1000GENOMES,ENSEMBL,HUMANGENOME_JCVI, 2 A,G, 2144.000000,48.000000, 0.978102,0.021898, chr21 34733450 34733451 40.000000 chr21 34733526 34733527 rs181384913 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733526 34733527 60.000000 chr21 34733584 34733585 rs184238170 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733584 34733585 40.000000 chr21 34733630 34733631 rs113082116 0 + G G A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, chr21 34733630 34733631 80.000000 chr21 34733641 34733642 rs2298677 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.400625 0.199529 unknown exact 1 13 1000GENOMES,ABI,AFFY,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,YUSUKE, 2 A,G, 3376.000000,1248.000000, 0.730104,0.269896, maf-5-some-pop,maf-5-all-pops chr21 34733641 34733642 40.000000 chr21 34733644 34733645 rs145039999 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 chr21 34733644 34733645 40.000000