# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 6493 NC_000021.8:g.38070016G>A;NG_029519.1:g.3026G>A;NM_005069.3:c.-2031G>A;NM_009586.2:c.-2031G>A 228558599 75049305 pilot_1_YRI_10368282_chr21_36991886 5.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38070377_38070378insCC;NG_029519.1:g.3387_3388insCC;NM_005069.3:c.-1670_-1669insCC;NM_009586.2:c.-1670_-1669insCC 327986049 149563432 JPTCHB_chr21_36992247_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38070529C>T;NG_029519.1:g.3539C>T;NM_005069.3:c.-1518C>T;NM_009586.2:c.-1518C>T 466052537 190416671 20101123_snps_12219767_chr21_38070529 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38070585C>G;NG_029519.1:g.3595C>G;NM_005069.3:c.-1462C>G;NM_009586.2:c.-1462C>G 169455857 112300213 NA19240_36_chr21_36992455 9.20e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38070585C>G;NG_029519.1:g.3595C>G;NM_005069.3:c.-1462C>G;NM_009586.2:c.-1462C>G 212084190 112300213 YRI.trio.3.2010_1500818_chr21_36992455 9.20e-03 2010.03.31 2010.03.31 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38070585C>G;NG_029519.1:g.3595C>G;NM_005069.3:c.-1462C>G;NM_009586.2:c.-1462C>G 228558600 112300213 pilot_1_YRI_10368283_chr21_36992455 9.20e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38070713C>G;NG_029519.1:g.3723C>G;NM_005069.3:c.-1334C>G;NM_009586.2:c.-1334C>G 208813585 112171949 BCM_CMT_1011-3269020 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38070794C>T;NG_029519.1:g.3804C>T;NM_005069.3:c.-1253C>T;NM_009586.2:c.-1253C>T 204013909 113904540 BUSHMAN-chr21-36992663 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 BCMHGSC_JDW 6493 NC_000021.8:g.38070813C>A;NG_029519.1:g.3823C>A;NM_005069.3:c.-1234C>A;NM_009586.2:c.-1234C>A 91834600 62222841 JWB-3043594 2008.03.02 2008.03.02 2008.03.24 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38070857A>T;NG_029519.1:g.3867A>T;NM_005069.3:c.-1190A>T;NM_009586.2:c.-1190A>T 204013910 111484012 BUSHMAN-chr21-36992726 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38070913A>C;NG_029519.1:g.3923A>C;NM_005069.3:c.-1134A>C;NM_009586.2:c.-1134A>C 466052538 181725219 20101123_snps_12219768_chr21_38070913 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38070923delG;NG_029519.1:g.3933delG;NM_005069.3:c.-1124delG;NM_009586.2:c.-1124delG 328316683 143479173 YRI_chr21_36992792_indel 2.01e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38070923delG;NG_029519.1:g.3933delG;NM_005069.3:c.-1124delG;NM_009586.2:c.-1124delG 499804854 143479173 20110316_indels_chr21_38070922_38070922 2.01e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BL 6493 NC_000021.8:g.38071048G>A;NG_029519.1:g.4058G>A;NM_005069.3:c.-999G>A;NM_009586.2:c.-999G>A 255945631 144613490 SNP32811_21_36992918 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 4040777 2854039 D85922.1_10583 3.51e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 10977813 2854039 chr21.NT_011512.8_23731488 3.51e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 168000197 2854039 NA07022_36_chr21_36992963 3.51e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 228558601 2854039 pilot_1_YRI_10368284_chr21_36992963 3.51e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 237977988 2854039 pilot_1_CEU_7582617_chr21_36992963 3.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071093A>T;NG_029519.1:g.4103A>T;NM_005069.3:c.-954A>T;NM_009586.2:c.-954A>T 244117233 2854039 pilot_1_CHB+JPT_6002310_chr21_36992963 3.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38071199G>A;NG_029519.1:g.4209G>A;NM_005069.3:c.-848G>A;NM_009586.2:c.-848G>A 4029225 2845797 AP000697.1_72321 3.44e-01 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38071199G>A;NG_029519.1:g.4209G>A;NM_005069.3:c.-848G>A;NM_009586.2:c.-848G>A 10978992 2845797 chr21.NT_011512.8_23731594 3.44e-01 2003.07.01 2003.10.10 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38071199G>A;NG_029519.1:g.4209G>A;NM_005069.3:c.-848G>A;NM_009586.2:c.-848G>A 228558602 2845797 pilot_1_YRI_10368285_chr21_36993069 3.44e-01 2010.04.22 2010.04.22 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38071199G>A;NG_029519.1:g.4209G>A;NM_005069.3:c.-848G>A;NM_009586.2:c.-848G>A 237977989 2845797 pilot_1_CEU_7582618_chr21_36993069 3.44e-01 2010.05.01 2010.05.01 2001.09.28 2011.09.09 137 BL 6493 NC_000021.8:g.38071199G>A;NG_029519.1:g.4209G>A;NM_005069.3:c.-848G>A;NM_009586.2:c.-848G>A 255945641 2845797 SNP32812_21_36993069 3.44e-01 2010.08.20 2010.08.20 2001.09.28 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38071328C>G;NG_029519.1:g.4338C>G;NM_005069.3:c.-719C>G;NM_009586.2:c.-719C>G 4029226 2845798 AP000697.1_72450 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38071335C>A;NG_029519.1:g.4345C>A;NM_005069.3:c.-712C>A;NM_009586.2:c.-712C>A 4029227 2845799 AP000697.1_72457 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 GMI 6493 NC_000021.8:g.38071363T>C;NG_029519.1:g.4373T>C;NM_005069.3:c.-684T>C;NM_009586.2:c.-684T>C 283537618 185943845 GMI_AK_SNP_7858039 1.59e-01 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071363T>C;NG_029519.1:g.4373T>C;NM_005069.3:c.-684T>C;NM_009586.2:c.-684T>C 466052539 185943845 20101123_snps_12219769_chr21_38071363 1.59e-01 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071363delT;NG_029519.1:g.4373delT;NM_005069.3:c.-684delT;NM_009586.2:c.-684delT 499804858 200046634 20110316_indels_chr21_38071362_38071362 1.73e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071367C>G;NG_029519.1:g.4377C>G;NM_005069.3:c.-680C>G;NM_009586.2:c.-680C>G 466052540 191102501 20101123_snps_12219770_chr21_38071367 1.30e-01 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 4029228 2845800 AP000697.1_72787 1.08e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 5871412 2845800 NT_011512.6_23649069 1.08e-01 2003.01.11 2003.10.10 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 21817684 2845800 WGSA-200403-chr21.chr21.NT_011512.9_23732061 1.08e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 44241846 2845800 hCV15820824 1.08e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 75248001 2845800 ILMN_Human_1M_rs2845800 1.08e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 84215930 2845800 Cor19129_SNV_20070510.chr21_36993535 1.08e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 91834603 2845800 JWB-1494537 1.08e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 106212812 2845800 BGI_rs2845800 1.08e-01 2008.09.14 2009.06.18 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 133094327 2845800 ENSSNP1974363 1.08e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 138314851 2845800 ENSSNP7206150 1.08e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 156891456 2845800 GMI_SNP_37878183 1.08e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 160588617 2845800 HumanOmni1-Quad_v1-0_B_rs2845800-128_B_R_1514212538 1.08e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 168000209 2845800 NA07022_36_chr21_36993535 1.08e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 169455873 2845800 NA19240_36_chr21_36993535 1.08e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 173498666 2845800 Human1M-Duov3_B_rs2845800-128_B_R_1514212538 1.08e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 204013911 2845800 BUSHMAN-chr21-36993534 1.08e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 208794795 2845800 BCM_CMT_1011-3250228 1.08e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 228558603 2845800 pilot_1_YRI_10368286_chr21_36993535 1.08e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 237977990 2845800 pilot_1_CEU_7582619_chr21_36993535 1.08e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 244117234 2845800 pilot_1_CHB+JPT_6002311_chr21_36993535 1.08e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 255945643 2845800 SNP32813_21_36993535 1.08e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 283537619 2845800 GMI_AK_SNP_7858040 1.08e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 292708600 2845800 SNP_2214958_chr21_36993535 1.08e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38071665G>A;NG_029519.1:g.4675G>A;NM_005069.3:c.-382G>A;NM_009586.2:c.-382G>A 481568844 2845800 HumanOmni1-Quad_v1-0_C_rs2845800-131_B_R_1863071435 1.08e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38071959C>T;NG_029519.1:g.4969C>T;NM_005069.3:c.-88C>T;NM_009586.2:c.-88C>T 208814153 113173841 BCM_CMT_1011-3269588 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38071988A>G;NG_029519.1:g.4998A>G;NM_005069.3:c.-59A>G;NM_009586.2:c.-59A>G 237977991 116948941 pilot_1_CEU_7582620_chr21_36993858 1.15e-01 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38072003G>A;NG_029519.1:g.5013G>A;NM_005069.3:c.-44G>A;NM_009586.2:c.-44G>A 341012474 149640396 20100804_snps_12656015_chr21_38072003 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072003G>A;NG_029519.1:g.5013G>A;NM_005069.3:c.-44G>A;NM_009586.2:c.-44G>A 491184244 149640396 20110521_exome_692042_chr21_38072003 9.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38072091G>A;NG_029519.1:g.5101G>A;NM_005069.3:c.45G>A;NM_009586.2:c.45G>A;NP_005060.1:p.Lys15=;NP_033664.2:p.Lys15= 342531762 145240420 ESP2500-chr21-38072091 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072091G>A;NG_029519.1:g.5101G>A;NM_005069.3:c.45G>A;NM_009586.2:c.45G>A;NP_005060.1:p.Lys15=;NP_033664.2:p.Lys15= 489203501 145240420 20110521_exome_275035_chr21_38072091 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072100C>A;NG_029519.1:g.5110C>A;NM_005069.3:c.54C>A;NM_009586.2:c.54C>A;NP_005060.1:p.Gly18=;NP_033664.2:p.Gly18= 489203503 200229277 20110521_exome_275036_chr21_38072100 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072127C>T;NG_029519.1:g.5137C>T;NM_005069.3:c.81C>T;NM_009586.2:c.81C>T;NP_005060.1:p.Leu27=;NP_033664.2:p.Leu27= 489203505 202090892 20110521_exome_275037_chr21_38072127 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38072136G>T;NG_029519.1:g.5146G>T;NM_005069.3:c.90G>T;NM_009586.2:c.90G>T;NP_005060.1:p.Pro30=;NP_033664.2:p.Pro30= 342531763 148750764 ESP2500-chr21-38072136 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38072199G>A;NG_029519.1:g.5209G>A;NM_005069.3:c.153G>A;NM_009586.2:c.153G>A;NP_005060.1:p.Lys51=;NP_033664.2:p.Lys51= 342531764 142269949 ESP2500-chr21-38072199 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072199G>A;NG_029519.1:g.5209G>A;NM_005069.3:c.153G>A;NM_009586.2:c.153G>A;NP_005060.1:p.Lys51=;NP_033664.2:p.Lys51= 489203507 142269949 20110521_exome_275038_chr21_38072199 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072227G>A;NG_029519.1:g.5237G>A;NM_005069.3:c.175+6G>A;NM_009586.2:c.175+6G>A 489203509 200569203 20110521_exome_275039_chr21_38072227 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072298C>G;NG_029519.1:g.5308C>G;NM_005069.3:c.175+77C>G;NM_009586.2:c.175+77C>G 228558604 115696255 pilot_1_YRI_10368287_chr21_36994168 4.85e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 3203177 2269188 IMS-JST023261 3.02e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 21821632 2269188 WGSA-200403-chr21.chr21.NT_011512.9_23732752 3.02e-01 2004.03.20 2006.10.26 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 44246385 2269188 hCV15876198 3.02e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 82359154 2269188 Cor18555_SNV_20070510.chr21_36994226 3.02e-01 2007.12.02 2007.12.02 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 91834604 2269188 JWB-1494538 3.02e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 103821996 2269188 BGI_rs2269188 3.02e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 135607471 2269188 ENSSNP1974364 3.02e-01 2009.05.14 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 138314852 2269188 ENSSNP11885086 3.02e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 169455889 2269188 NA19240_36_chr21_36994226 3.02e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 208810555 2269188 BCM_CMT_1011-3265990 3.02e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 212084192 2269188 YRI.trio.3.2010_1500819_chr21_36994226 3.02e-01 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 228558605 2269188 pilot_1_YRI_10368288_chr21_36994226 3.02e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 237977992 2269188 pilot_1_CEU_7582621_chr21_36994226 3.02e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 244117235 2269188 pilot_1_CHB+JPT_6002312_chr21_36994226 3.02e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38072356G>C;NG_029519.1:g.5366G>C;NM_005069.3:c.175+135G>C;NM_009586.2:c.175+135G>C 283537620 2269188 GMI_AK_SNP_7858041 3.02e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072417C>A;NG_029519.1:g.5427C>A;NM_005069.3:c.175+196C>A;NM_009586.2:c.175+196C>A 341012475 144249525 20100804_snps_12656016_chr21_38072417 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38072428T>C;NG_029519.1:g.5438T>C;NM_005069.3:c.175+207T>C;NM_009586.2:c.175+207T>C 341012476 148295484 20100804_snps_12656017_chr21_38072428 1.88e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38072454C>A;NG_029519.1:g.5464C>A;NM_005069.3:c.175+233C>A;NM_009586.2:c.175+233C>A 228558606 115030259 pilot_1_YRI_10368289_chr21_36994324 4.67e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 GMI 6493 NC_000021.8:g.38072495G>T;NG_029519.1:g.5505G>T;NM_005069.3:c.175+274G>T;NM_009586.2:c.175+274G>T 156891465 77669468 GMI_SNP_118959262 2.84e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072495G>T;NG_029519.1:g.5505G>T;NM_005069.3:c.175+274G>T;NM_009586.2:c.175+274G>T 244117237 77669468 pilot_1_CHB+JPT_6002314_chr21_36994365 2.84e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38072495G>T;NG_029519.1:g.5505G>T;NM_005069.3:c.175+274G>T;NM_009586.2:c.175+274G>T 283537621 77669468 GMI_AK_SNP_7858042 2.84e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072499G>A;NG_029519.1:g.5509G>A;NM_005069.3:c.175+278G>A;NM_009586.2:c.175+278G>A 341012477 142057713 20100804_snps_12656018_chr21_38072499 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38072576T>G;NG_029519.1:g.5586T>G;NM_005069.3:c.175+355T>G;NM_009586.2:c.175+355T>G 283537622 201426040 GMI_AK_SNP_7858043 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6493 NC_000021.8:g.38072578G>A;NG_029519.1:g.5588G>A;NM_005069.3:c.175+357G>A;NM_009586.2:c.175+357G>A 283537623 199514637 GMI_AK_SNP_7858044 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BUSHMAN 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 193633778 112671093 BUSHMAN-chr21-36994449-36994449 1.15e-01 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 BL 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 256199730 112671093 SNP2558_21_36994449 1.15e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 288549445 112671093 GMI_NA10851_INDEL_308455 1.15e-01 2010.12.22 2010.12.22 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 327986052 112671093 JPTCHB_chr21_36994449_indel 1.15e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 328091382 112671093 CEU_chr21_36994449_indel 1.15e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 328316684 112671093 YRI_chr21_36994449_indel 1.15e-01 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072579_38072580insT;NG_029519.1:g.5589_5590insT;NM_005069.3:c.175+358_175+359insT;NM_009586.2:c.175+358_175+359insT 499804861 112671093 20110316_indels_chr21_38072579_38072580 1.15e-01 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 41491369 34394859 hCV33801761 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 82084722 34394859 Cor19129_DIV_20070510.chr21_36994456-36994457_1 2007.12.02 2007.12.02 2006.03.14 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 82122836 34394859 Cor19129_DIV_20070510.chr21_36994456-36994457_2 2007.12.02 2007.12.02 2006.03.14 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 83676520 34394859 Cor18517_DIV_20070510.chr21_36994456-36994457_1 2007.12.05 2007.12.05 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 95751151 34394859 1104685581947 2008.03.23 2008.12.03 2006.03.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 100993398 34394859 INDEL_GP36_2008a_1948439_0 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 100993402 34394859 INDEL_GP36_2008a_1948439_1 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 100993404 34394859 INDEL_GP36_2008a_1948439_2 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 100993407 34394859 INDEL_GP36_2008a_1948439_3 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 102188295 34394859 INDEL_GP36_2008a_1523149_0 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 BGI 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 104735582 34394859 BGI_rs34394859 2008.06.09 2008.06.09 2006.03.14 2012.11.28 137 BGI 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 105500988 34394859 BGI_YHIndelrs34394859 2008.09.10 2009.06.16 2006.03.14 2012.11.28 137 GMI 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 289434408 34394859 GMI_AK_INDEL_1111888 2010.12.30 2011.12.30 2006.03.14 2012.11.28 137 PJP 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 295067580 34394859 DIP_505284_chr21_36994450 2011.01.23 2011.01.23 2006.03.14 2012.11.28 137 PJP 6493 NC_000021.8:g.38072580_38072581insT;NG_029519.1:g.5590_5591insT;NM_005069.3:c.175+359_175+360insT;NM_009586.2:c.175+359_175+360insT 295067581 34394859 DIP_505285_chr21_36994456 2011.01.23 2011.01.23 2006.03.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072599_38072600insCTTT;NG_029519.1:g.5609_5610insCTTT;NM_005069.3:c.175+378_175+379insCTTT;NM_009586.2:c.175+378_175+379insCTTT 499804865 201030610 20110316_indels_chr21_38072599_38072600 4.03e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38072603_38072606delTCTT;NG_029519.1:g.5613_5616delTCTT;NM_005069.3:c.175+382_175+385delTCTT;NM_009586.2:c.175+382_175+385delTCTT 102358534 72412749 INDEL_GP36_2008a_1948440_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38072615_38072616delTC;NG_029519.1:g.5625_5626delTC;NM_005069.3:c.175+394_175+395delTC;NM_009586.2:c.175+394_175+395delTC 499804869 199538921 20110316_indels_chr21_38072614_38072615 4.85e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072617_38072620delTCTT;NG_029519.1:g.5627_5630delTCTT;NM_005069.3:c.175+396_175+399delTCTT;NM_009586.2:c.175+396_175+399delTCTT 499804873 200674591 20110316_indels_chr21_38072616_38072619 4.62e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072625delT;NC_000021.8:g.38072625delTinsCTTT;NG_029519.1:g.5635delT;NG_029519.1:g.5635delTinsCTTT;NM_005069.3:c.175+404delT;NM_005069.3:c.175+404delTinsCTTT;NM_009586.2:c.175+404delT;NM_009586.2:c.175+404delTinsCTTT 83676514 60519395 Cor18517_DIV_20070510.chr21_36994491-36994496_1 2007.12.05 2007.12.05 2007.12.16 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38072653T>C;NG_029519.1:g.5663T>C;NM_005069.3:c.175+432T>C;NM_009586.2:c.175+432T>C 466052541 183291243 20101123_snps_12219771_chr21_38072653 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38072676delC;NG_029519.1:g.5686delC;NM_005069.3:c.175+455delC;NM_009586.2:c.175+455delC 499804876 200895651 20110316_indels_chr21_38072675_38072675 9.20e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072692C>T;NG_029519.1:g.5702C>T;NM_005069.3:c.175+471C>T;NM_009586.2:c.175+471C>T 228558611 76908937 pilot_1_YRI_10368294_chr21_36994562 1.47e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38072744G>A;NG_029519.1:g.5754G>A;NM_005069.3:c.175+523G>A;NM_009586.2:c.175+523G>A 341012478 146324650 20100804_snps_12656019_chr21_38072744 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 4029229 2845801 AP000697.1_73894 1.69e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 14430888 2845801 chr21.NT_011512.9_23733168 1.69e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 21806768 2845801 WGSA-200403-chr21.chr21.NT_011512.9_23733168 1.69e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 41491413 2845801 hCV15820825 1.69e-01 2005.07.17 2005.07.17 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 78299385 2845801 Cor12878_SNV_20070510.chr21_36994642 1.69e-01 2007.10.18 2007.10.18 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 85206885 2845801 Cor19129_SNV_20070510.chr21_36994642 1.69e-01 2007.12.08 2007.12.08 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 91834606 2845801 JWB-1494539 1.69e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 96147480 2845801 1103643115873 1.69e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 112461549 2845801 CEU.trio.12.15.2008_3763609_chr21_36994642 1.69e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 113876858 2845801 NA19240_2008_12_16_3401833_chr21_36994642 1.69e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 117520721 2845801 NA18507_000036511_NCBI36.1_chr21_36994642 1.69e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 168000221 2845801 NA07022_36_chr21_36994642 1.69e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 169455906 2845801 NA19240_36_chr21_36994642 1.69e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 204013912 2845801 BUSHMAN-chr21-36994641 1.69e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 208776417 2845801 BCM_CMT_1011-3231850 1.69e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 228558612 2845801 pilot_1_YRI_10368295_chr21_36994642 1.69e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 237977993 2845801 pilot_1_CEU_7582622_chr21_36994642 1.69e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 244117238 2845801 pilot_1_CHB+JPT_6002315_chr21_36994642 1.69e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 255945651 2845801 SNP32814_21_36994642 1.69e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 283537624 2845801 GMI_AK_SNP_7858045 1.69e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38072772T>C;NG_029519.1:g.5782T>C;NM_005069.3:c.175+551T>C;NM_009586.2:c.175+551T>C 292708601 2845801 SNP_2214959_chr21_36994642 1.69e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38072818C>A;NC_000021.8:g.38072818C>G;NC_000021.8:g.38072818C>T;NG_029519.1:g.5828C>A;NG_029519.1:g.5828C>G;NG_029519.1:g.5828C>T;NM_005069.3:c.175+597C>A;NM_005069.3:c.175+597C>G;NM_005069.3:c.175+597C>T;NM_009586.2:c.175+597C>A;NM_009586.2:c.175+597C>G;NM_009586.2:c.175+597C>T 237977994 117911688 pilot_1_CEU_7582623_chr21_36994688 3.20e-03 2010.05.01 2010.05.01 2010.07.15 2013.02.07 137 ILLUMINA 6493 NC_000021.8:g.38072818C>A;NC_000021.8:g.38072818C>G;NC_000021.8:g.38072818C>T;NG_029519.1:g.5828C>A;NG_029519.1:g.5828C>G;NG_029519.1:g.5828C>T;NM_005069.3:c.175+597C>A;NM_005069.3:c.175+597C>G;NM_005069.3:c.175+597C>T;NM_009586.2:c.175+597C>A;NM_009586.2:c.175+597C>G;NM_009586.2:c.175+597C>T 484267453 117911688 HumanOmni2.5-4v1_B_SNP21-36994688-0_T_R_1645282740 3.20e-03 2012.02.03 2012.02.03 2010.07.15 2013.02.07 137 BUSHMAN 6493 NC_000021.8:g.38072877C>T;NG_029519.1:g.5887C>T;NM_005069.3:c.175+656C>T;NM_009586.2:c.175+656C>T 204013913 111696960 BUSHMAN-chr21-36994746 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38072920G>A;NG_029519.1:g.5930G>A;NM_005069.3:c.175+699G>A;NM_009586.2:c.175+699G>A 466052542 185433500 20101123_snps_12219772_chr21_38072920 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38073039G>A;NG_029519.1:g.6049G>A;NM_005069.3:c.175+818G>A;NM_009586.2:c.175+818G>A 466052543 190723115 20101123_snps_12219773_chr21_38073039 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38073056C>G;NG_029519.1:g.6066C>G;NM_005069.3:c.175+835C>G;NM_009586.2:c.175+835C>G 341012479 139307673 20100804_snps_12656020_chr21_38073056 1.10e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073075G>A;NG_029519.1:g.6085G>A;NM_005069.3:c.175+854G>A;NM_009586.2:c.175+854G>A 228558613 115868938 pilot_1_YRI_10368296_chr21_36994945 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 168000235 79632575 NA07022_36_chr21_36995042 3.89e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 169455922 79632575 NA19240_36_chr21_36995042 3.89e-02 2009.10.01 2009.10.01 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 204013914 79632575 BUSHMAN-chr21-36995041 3.89e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 212084194 79632575 YRI.trio.3.2010_1500820_chr21_36995042 3.89e-02 2010.03.31 2010.03.31 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 228558614 79632575 pilot_1_YRI_10368297_chr21_36995042 3.89e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073172G>C;NG_029519.1:g.6182G>C;NM_005069.3:c.175+951G>C;NM_009586.2:c.175+951G>C 237977995 79632575 pilot_1_CEU_7582624_chr21_36995042 3.89e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 3203178 2252821 IMS-JST023262 4.25e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 4029231 2252821 AP000697.1_74408 4.25e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 14430569 2252821 chr21.NT_011512.9_23733682 4.25e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 19483557 2252821 CSHL-HuDD-200402.chr21.NT_011512.9_23733682 4.25e-01 2004.02.21 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 21805678 2252821 WGSA-200403-chr21.chr21.NT_011512.9_23733682 4.25e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 44241299 2252821 hCV15820832 4.25e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 91834609 2252821 JWB-1494540 4.25e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 96147481 2252821 1103643115874 4.25e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 106212814 2252821 BGI_rs2252821 4.25e-01 2008.09.14 2009.06.18 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 135607466 2252821 ENSSNP1974366 4.25e-01 2009.05.14 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 138314854 2252821 ENSSNP11885088 4.25e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 156891481 2252821 GMI_SNP_100194143 4.25e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 168000246 2252821 NA07022_36_chr21_36995156 4.25e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 204013915 2252821 BUSHMAN-chr21-36995155 4.25e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 208807372 2252821 BCM_CMT_1011-3262807 4.25e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 228558615 2252821 pilot_1_YRI_10368298_chr21_36995156 4.25e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 237977996 2252821 pilot_1_CEU_7582625_chr21_36995156 4.25e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 244117239 2252821 pilot_1_CHB+JPT_6002316_chr21_36995156 4.25e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 255945659 2252821 SNP32815_21_36995156 4.25e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 283537625 2252821 GMI_AK_SNP_7858046 4.25e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38073286C>A;NG_029519.1:g.6296C>A;NM_005069.3:c.175+1065C>A;NM_009586.2:c.175+1065C>A 292708602 2252821 SNP_2214960_chr21_36995156 4.25e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073302C>T;NG_029519.1:g.6312C>T;NM_005069.3:c.175+1081C>T;NM_009586.2:c.175+1081C>T 341012480 144075822 20100804_snps_12656021_chr21_38073302 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073371T>A;NG_029519.1:g.6381T>A;NM_005069.3:c.175+1150T>A;NM_009586.2:c.175+1150T>A 228558616 115588821 pilot_1_YRI_10368299_chr21_36995241 1.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 44278516 34907269 hCV2484153 2.78e-01 2005.07.18 2005.07.18 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 96168120 34907269 1103643115866 2.78e-01 2008.03.25 2008.03.25 2006.03.14 2012.11.28 137 BGI 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 103821999 34907269 BGI_rs34907269 2.78e-01 2008.06.07 2009.06.18 2006.03.14 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 133094331 34907269 ENSSNP1974367 2.78e-01 2009.05.12 2009.10.15 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 168000257 34907269 NA07022_36_chr21_36995565 2.78e-01 2009.09.30 2009.09.30 2006.03.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 212084196 34907269 YRI.trio.3.2010_1500821_chr21_36995565 2.78e-01 2010.03.31 2010.03.31 2006.03.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 228558617 34907269 pilot_1_YRI_10368300_chr21_36995565 2.78e-01 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 237977997 34907269 pilot_1_CEU_7582626_chr21_36995565 2.78e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 244117240 34907269 pilot_1_CHB+JPT_6002317_chr21_36995565 2.78e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 BL 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 255945664 34907269 SNP32816_21_36995565 2.78e-01 2010.08.20 2010.08.20 2006.03.14 2012.11.28 137 GMI 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 283537626 34907269 GMI_AK_SNP_7858047 2.78e-01 2010.12.16 2010.12.16 2006.03.14 2012.11.28 137 PJP 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 292708603 34907269 SNP_2214961_chr21_36995565 2.78e-01 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 483955253 34907269 HumanOmni2.5-4v1_D_kgp7694642-0_T_F_1819904807 2.78e-01 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38073695G>A;NG_029519.1:g.6705G>A;NM_005069.3:c.175+1474G>A;NM_009586.2:c.175+1474G>A 484267456 34907269 HumanOmni2.5-4v1_B_SNP21-36995565-0_T_F_1618958058 2.78e-01 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 4477662 3216683 IMS-JST078240 3.12e-01 2002.06.06 2003.10.10 2002.07.03 2012.11.28 137 ABI 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 41499570 3216683 hCV26794141 3.12e-01 2005.07.17 2005.07.17 2002.07.03 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 96178026 3216683 1103643115867 3.12e-01 2008.03.25 2008.03.25 2002.07.03 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 101529630 3216683 INDEL_GP36_2008a_1745843_0 3.12e-01 2008.05.17 2008.05.17 2002.07.03 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 101529633 3216683 INDEL_GP36_2008a_1745843_1 3.12e-01 2008.05.17 2008.05.17 2002.07.03 2012.11.28 137 BGI 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 104735583 3216683 BGI_YHIndel43899 3.12e-01 2008.06.09 2009.06.16 2002.07.03 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 193633780 3216683 BUSHMAN-chr21-36995683-36995684 3.12e-01 2010.02.17 2010.02.17 2002.07.03 2012.11.28 137 BL 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 256199737 3216683 SNP2559_21_36995683 3.12e-01 2010.08.20 2010.08.20 2002.07.03 2012.11.28 137 PJP 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 295067582 3216683 DIP_505286_chr21_36995685 3.12e-01 2011.01.23 2011.01.23 2002.07.03 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 327986055 3216683 JPTCHB_chr21_36995683_indel 3.12e-01 2011.03.13 2011.04.03 2002.07.03 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 328091384 3216683 CEU_chr21_36995683_indel 3.12e-01 2011.03.13 2011.04.03 2002.07.03 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 328316685 3216683 YRI_chr21_36995683_indel 3.12e-01 2011.03.13 2011.04.04 2002.07.03 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073814delG;NG_029519.1:g.6824delG;NM_005069.3:c.175+1593delG;NM_009586.2:c.175+1593delG 499804879 3216683 20110316_indels_chr21_38073813_38073813 3.12e-01 2012.03.20 2012.03.20 2002.07.03 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38073901C>A;NG_029519.1:g.6911C>A;NM_005069.3:c.175+1680C>A;NM_009586.2:c.175+1680C>A 466052544 183430139 20101123_snps_12219774_chr21_38073901 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38073939C>G;NG_029519.1:g.6949C>G;NM_005069.3:c.175+1718C>G;NM_009586.2:c.175+1718C>G 341012481 150561465 20100804_snps_12656022_chr21_38073939 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073960C>T;NG_029519.1:g.6970C>T;NM_005069.3:c.175+1739C>T;NM_009586.2:c.175+1739C>T 341012482 139644152 20100804_snps_12656023_chr21_38073960 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38073993G>A;NG_029519.1:g.7003G>A;NM_005069.3:c.175+1772G>A;NM_009586.2:c.175+1772G>A 341012483 149741007 20100804_snps_12656024_chr21_38073993 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 13820283 9977822 chr21.NT_011512.9_23734402 1.69e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 21827297 9977822 WGSA-200403-chr21.chr21.NT_011512.9_23734402 1.69e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 44247990 9977822 hCV2484155 1.69e-01 2005.07.18 2005.07.18 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 91834611 9977822 JWB-1494541 1.69e-01 2008.03.02 2008.03.02 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 96168121 9977822 1103643115868 1.69e-01 2008.03.25 2008.03.25 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 112461553 9977822 CEU.trio.12.15.2008_3763610_chr21_36995876 1.69e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 156891488 9977822 GMI_SNP_118835601 1.69e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 168000276 9977822 NA07022_36_chr21_36995876 1.69e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 208791740 9977822 BCM_CMT_1011-3247173 1.69e-01 2010.03.20 2010.03.20 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 228558618 9977822 pilot_1_YRI_10368301_chr21_36995876 1.69e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 237977998 9977822 pilot_1_CEU_7582627_chr21_36995876 1.69e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 244117241 9977822 pilot_1_CHB+JPT_6002318_chr21_36995876 1.69e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 283537627 9977822 GMI_AK_SNP_7858048 1.69e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 292708604 9977822 SNP_2214962_chr21_36995876 1.69e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 479412680 9977822 HumanOmni2.5-4v1_D_kgp10698107-0_T_R_1819879465 1.69e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074006T>G;NG_029519.1:g.7016T>G;NM_005069.3:c.175+1785T>G;NM_009586.2:c.175+1785T>G 484267458 9977822 HumanOmni2.5-4v1_B_SNP21-36995876-0_T_R_1613065860 1.69e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38074031C>A;NG_029519.1:g.7041C>A;NM_005069.3:c.175+1810C>A;NM_009586.2:c.175+1810C>A 156891494 78645861 GMI_SNP_118821099 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38074031C>A;NG_029519.1:g.7041C>A;NM_005069.3:c.175+1810C>A;NM_009586.2:c.175+1810C>A 283537628 78645861 GMI_AK_SNP_7858049 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 77613171 56375654 Cor12156_SNV_20070510.chr21_36995939 4.49e-02 2007.10.13 2007.10.13 2007.12.08 2011.09.09 137 HGSV 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 84288345 56375654 Cor19240_SNV_20070510.chr21_36995939 4.49e-02 2007.12.06 2007.12.06 2007.12.08 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 113876865 56375654 NA19240_2008_12_16_3401834_chr21_36995939 4.49e-02 2008.12.18 2008.12.18 2007.12.08 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 168000287 56375654 NA07022_36_chr21_36995939 4.49e-02 2009.09.30 2009.09.30 2007.12.08 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 169455939 56375654 NA19240_36_chr21_36995939 4.49e-02 2009.10.01 2009.10.01 2007.12.08 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 204013916 56375654 BUSHMAN-chr21-36995938 4.49e-02 2010.03.10 2010.03.10 2007.12.08 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 228558619 56375654 pilot_1_YRI_10368302_chr21_36995939 4.49e-02 2010.04.22 2010.04.22 2007.12.08 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38074069A>G;NG_029519.1:g.7079A>G;NM_005069.3:c.175+1848A>G;NM_009586.2:c.175+1848A>G 237977999 56375654 pilot_1_CEU_7582628_chr21_36995939 4.49e-02 2010.05.01 2010.05.01 2007.12.08 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 3203179 2269189 IMS-JST023263 3.81e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 10992279 2269189 chr21.NT_011512.8_23734485 3.81e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 12517060 2269189 chr21.NT_011512.8_23734485 3.81e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 14435979 2269189 chr21.NT_011512.9_23734486 3.81e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 78854629 2269189 Cor18507_SNV_20070510.chr21_36995960 3.81e-01 2007.10.21 2007.10.21 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 82968747 2269189 Cor19240_SNV_20070510.chr21_36995960 3.81e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 91834613 2269189 JWB-1494542 3.81e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 96168122 2269189 1103643115869 3.81e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 103822001 2269189 BGI_rs2269189 3.81e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 112461557 2269189 CEU.trio.12.15.2008_3763611_chr21_36995960 3.81e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 113876874 2269189 NA19240_2008_12_16_3401835_chr21_36995960 3.81e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 117520723 2269189 NA18507_000036512_NCBI36.1_chr21_36995960 3.81e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 138314855 2269189 ENSSNP11885089 3.81e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 156891501 2269189 GMI_SNP_37972690 3.81e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 168000302 2269189 NA07022_36_chr21_36995960 3.81e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 169455953 2269189 NA19240_36_chr21_36995960 3.81e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 172013800 2269189 NA20431_36_chr21_36995960 3.81e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 204013917 2269189 BUSHMAN-chr21-36995959 3.81e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 208770020 2269189 BCM_CMT_1011-3225453 3.81e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 228558620 2269189 pilot_1_YRI_10368303_chr21_36995960 3.81e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 237978000 2269189 pilot_1_CEU_7582629_chr21_36995960 3.81e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 244117242 2269189 pilot_1_CHB+JPT_6002319_chr21_36995960 3.81e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 255945671 2269189 SNP32817_21_36995960 3.81e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 283537629 2269189 GMI_AK_SNP_7858050 3.81e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 292708605 2269189 SNP_2214963_chr21_36995960 3.81e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 483927388 2269189 HumanOmni2.5-4v1_D_kgp7539403-0_B_R_1819981804 3.81e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074090C>A;NG_029519.1:g.7100C>A;NM_005069.3:c.175+1869C>A;NM_009586.2:c.175+1869C>A 484267460 2269189 HumanOmni2.5-4v1_B_SNP21-36995960-0_B_R_1613068737 3.81e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074196A>G;NG_029519.1:g.7206A>G;NM_005069.3:c.175+1975A>G;NM_009586.2:c.175+1975A>G 466052545 187971137 20101123_snps_12219775_chr21_38074196 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 6493 NC_000021.8:g.38074205T>C;NG_029519.1:g.7215T>C;NM_005069.3:c.175+1984T>C;NM_009586.2:c.175+1984T>C 103822003 74408694 BGI_YHSNP0165402 1.28e-02 2008.06.07 2009.06.18 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074205T>C;NG_029519.1:g.7215T>C;NM_005069.3:c.175+1984T>C;NM_009586.2:c.175+1984T>C 244117243 74408694 pilot_1_CHB+JPT_6002320_chr21_36996075 1.28e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38074205T>C;NG_029519.1:g.7215T>C;NM_005069.3:c.175+1984T>C;NM_009586.2:c.175+1984T>C 475855874 74408694 GMI_AK_SNP_8524372 1.28e-02 2011.11.24 2011.11.24 2009.12.01 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 3203180 2269190 IMS-JST023264 4.72e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 6651727 2269190 NT_011512.7_23734676 4.72e-01 2003.02.13 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 12518211 2269190 chr21.NT_011512.8_23734635 4.72e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 14436587 2269190 chr21.NT_011512.9_23734636 4.72e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 21825405 2269190 WGSA-200403-chr21.chr21.NT_011512.9_23734636 4.72e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 35318912 2269190 TA-079.chr21_36996110 4.72e-01 2005.03.11 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 78835021 2269190 Cor18507_SNV_20070510.chr21_36996110 4.72e-01 2007.10.20 2007.10.20 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 82849880 2269190 Cor19240_SNV_20070510.chr21_36996110 4.72e-01 2007.12.03 2007.12.03 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 91834615 2269190 JWB-1494543 4.72e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 96147482 2269190 1103643115875 4.72e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 103822004 2269190 BGI_rs2269190 4.72e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 112461561 2269190 CEU.trio.12.15.2008_3763612_chr21_36996110 4.72e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 113876885 2269190 NA19240_2008_12_16_3401836_chr21_36996110 4.72e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 117520725 2269190 NA18507_000036513_NCBI36.1_chr21_36996110 4.72e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 138314856 2269190 ENSSNP6032682 4.72e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 142644722 2269190 ENSSNP4685465 4.72e-01 2009.06.05 2009.10.16 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 156891507 2269190 GMI_SNP_99997824 4.72e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 168000314 2269190 NA07022_36_chr21_36996110 4.72e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 169455969 2269190 NA19240_36_chr21_36996110 4.72e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 172013808 2269190 NA20431_36_chr21_36996110 4.72e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 204013918 2269190 BUSHMAN-chr21-36996109 4.72e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 208767751 2269190 BCM_CMT_1011-3223184 4.72e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 228558621 2269190 pilot_1_YRI_10368304_chr21_36996110 4.72e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 237978001 2269190 pilot_1_CEU_7582630_chr21_36996110 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 244117244 2269190 pilot_1_CHB+JPT_6002321_chr21_36996110 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 283537630 2269190 GMI_AK_SNP_7858051 4.72e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 292708606 2269190 SNP_2214964_chr21_36996110 4.72e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 483600930 2269190 HumanOmni2.5-4v1_D_kgp5766532-0_T_F_1820164796 4.72e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074240G>A;NC_000021.8:g.38074240G>C;NG_029519.1:g.7250G>A;NG_029519.1:g.7250G>C;NM_005069.3:c.175+2019G>A;NM_005069.3:c.175+2019G>C;NM_009586.2:c.175+2019G>A;NM_009586.2:c.175+2019G>C 484267462 2269190 HumanOmni2.5-4v1_B_SNP21-36996110-0_T_F_1612774698 4.72e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 3203181 2269191 IMS-JST023265 2.48e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 12517676 2269191 chr21.NT_011512.8_23734648 2.48e-01 2003.07.04 2008.03.31 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 14436329 2269191 chr21.NT_011512.9_23734649 2.48e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 21824504 2269191 WGSA-200403-chr21.chr21.NT_011512.9_23734649 2.48e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 76479519 2269191 AFFY_6_1M_SNP_A-8340601 2.48e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 85004089 2269191 Cor19129_SNV_20070510.chr21_36996123 2.48e-01 2007.12.08 2007.12.08 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 91834617 2269191 JWB-1494544 2.48e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 96147483 2269191 1103643115876 2.48e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 104867942 2269191 KHS1260260 2.48e-01 2008.07.10 2008.07.10 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 117520727 2269191 NA18507_000036514_NCBI36.1_chr21_36996123 2.48e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 138314857 2269191 ENSSNP6609745 2.48e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 142822960 2269191 ENSSNP3868877 2.48e-01 2009.06.05 2009.10.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 160524355 2269191 HumanOmni1-Quad_v1-0_B_rs2269191-128_B_F_1569297269 2.48e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 168000326 2269191 NA07022_36_chr21_36996123 2.48e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 172013815 2269191 NA20431_36_chr21_36996123 2.48e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 204013919 2269191 BUSHMAN-chr21-36996122 2.48e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 212084198 2269191 YRI.trio.3.2010_1500822_chr21_36996123 2.48e-01 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 228558622 2269191 pilot_1_YRI_10368305_chr21_36996123 2.48e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 237978002 2269191 pilot_1_CEU_7582631_chr21_36996123 2.48e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 244117245 2269191 pilot_1_CHB+JPT_6002322_chr21_36996123 2.48e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 283537631 2269191 GMI_AK_SNP_7858052 2.48e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 292708607 2269191 SNP_2214965_chr21_36996123 2.48e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 480493628 2269191 HumanOmni2.5-4v1_B_rs2269191-128_B_F_1569297269 2.48e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 480507967 2269191 HumanOmniExpress-12v1_C_rs2269191-131_B_F_1858047778 2.48e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 481311715 2269191 HumanOmni1-Quad_v1-0_C_rs2269191-131_B_F_1865720562 2.48e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38074253C>T;NG_029519.1:g.7263C>T;NM_005069.3:c.175+2032C>T;NM_009586.2:c.175+2032C>T 485044321 2269191 HumanOmni2.5-4v1_D_rs2269191-131_B_F_1858047778 2.48e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074305G>A;NG_029519.1:g.7315G>A;NM_005069.3:c.175+2084G>A;NM_009586.2:c.175+2084G>A 341012484 145468376 20100804_snps_12656025_chr21_38074305 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38074340G>C;NG_029519.1:g.7350G>C;NM_005069.3:c.175+2119G>C;NM_009586.2:c.175+2119G>C 466052546 192830930 20101123_snps_12219776_chr21_38074340 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38074700C>T;NG_029519.1:g.7710C>T;NM_005069.3:c.175+2479C>T;NM_009586.2:c.175+2479C>T 466052547 182932275 20101123_snps_12219777_chr21_38074700 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 12507831 8130149 chr21.NT_011512.8_23735140 2.34e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 204013920 8130149 BUSHMAN-chr21-36996614 2.34e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 208799465 8130149 BCM_CMT_1011-3254898 2.34e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 212084200 8130149 YRI.trio.3.2010_1500823_chr21_36996615 2.34e-01 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 228558623 8130149 pilot_1_YRI_10368306_chr21_36996615 2.34e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 237978004 8130149 pilot_1_CEU_7582633_chr21_36996615 2.34e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 244117246 8130149 pilot_1_CHB+JPT_6002323_chr21_36996615 2.34e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6493 NC_000021.8:g.38074745C>G;NG_029519.1:g.7755C>G;NM_005069.3:c.175+2524C>G;NM_009586.2:c.175+2524C>G 255945674 8130149 SNP32818_21_36996615 2.34e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074907_38074915delCTGGTCACC;NG_029519.1:g.7917_7925delCTGGTCACC;NM_005069.3:c.175+2686_175+2694delCTGGTCACC;NM_009586.2:c.175+2686_175+2694delCTGGTCACC 328316686 144602851 YRI_chr21_36996776_indel 1.01e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074907_38074915delCTGGTCACC;NG_029519.1:g.7917_7925delCTGGTCACC;NM_005069.3:c.175+2686_175+2694delCTGGTCACC;NM_009586.2:c.175+2686_175+2694delCTGGTCACC 499804881 144602851 20110316_indels_chr21_38074906_38074914 1.01e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074922G>A;NG_029519.1:g.7932G>A;NM_005069.3:c.175+2701G>A;NM_009586.2:c.175+2701G>A 466052548 187275464 20101123_snps_12219778_chr21_38074922 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38074944G>C;NG_029519.1:g.7954G>C;NM_005069.3:c.175+2723G>C;NM_009586.2:c.175+2723G>C 172013822 79727496 NA20431_36_chr21_36996814 1.19e-01 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38074944G>C;NG_029519.1:g.7954G>C;NM_005069.3:c.175+2723G>C;NM_009586.2:c.175+2723G>C 204013921 79727496 BUSHMAN-chr21-36996813 1.19e-01 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074944G>C;NG_029519.1:g.7954G>C;NM_005069.3:c.175+2723G>C;NM_009586.2:c.175+2723G>C 237978005 79727496 pilot_1_CEU_7582634_chr21_36996814 1.19e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38074944G>C;NG_029519.1:g.7954G>C;NM_005069.3:c.175+2723G>C;NM_009586.2:c.175+2723G>C 244117247 79727496 pilot_1_CHB+JPT_6002324_chr21_36996814 1.19e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38074944G>C;NG_029519.1:g.7954G>C;NM_005069.3:c.175+2723G>C;NM_009586.2:c.175+2723G>C 283537632 79727496 GMI_AK_SNP_7858053 1.19e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075012G>A;NG_029519.1:g.8022G>A;NM_005069.3:c.175+2791G>A;NM_009586.2:c.175+2791G>A 466052549 192616807 20101123_snps_12219779_chr21_38075012 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075050G>A;NG_029519.1:g.8060G>A;NM_005069.3:c.175+2829G>A;NM_009586.2:c.175+2829G>A 168000337 112259105 NA07022_36_chr21_36996920 2.38e-02 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38075050G>A;NG_029519.1:g.8060G>A;NM_005069.3:c.175+2829G>A;NM_009586.2:c.175+2829G>A 204013922 112259105 BUSHMAN-chr21-36996919 2.38e-02 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075050G>A;NG_029519.1:g.8060G>A;NM_005069.3:c.175+2829G>A;NM_009586.2:c.175+2829G>A 237978006 112259105 pilot_1_CEU_7582635_chr21_36996920 2.38e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38075104C>T;NG_029519.1:g.8114C>T;NM_005069.3:c.175+2883C>T;NM_009586.2:c.175+2883C>T 3155272 2212927 TSC1273579 2.01e-02 2001.06.08 2003.10.10 2001.06.15 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38075104C>T;NG_029519.1:g.8114C>T;NM_005069.3:c.175+2883C>T;NM_009586.2:c.175+2883C>T 6020100 2212927 NT_011512.6_23652508 2.01e-02 2003.01.12 2003.10.10 2001.06.15 2011.09.09 137 ABI 6493 NC_000021.8:g.38075104C>T;NG_029519.1:g.8114C>T;NM_005069.3:c.175+2883C>T;NM_009586.2:c.175+2883C>T 44243922 2212927 hCV16156764 2.01e-02 2005.07.18 2005.07.18 2001.06.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075104C>T;NG_029519.1:g.8114C>T;NM_005069.3:c.175+2883C>T;NM_009586.2:c.175+2883C>T 228558624 2212927 pilot_1_YRI_10368307_chr21_36996974 2.01e-02 2010.04.22 2010.04.22 2001.06.15 2011.09.09 137 GMI 6493 NC_000021.8:g.38075239G>A;NG_029519.1:g.8249G>A;NM_005069.3:c.175+3018G>A;NM_009586.2:c.175+3018G>A 283537633 201200883 GMI_AK_SNP_7858054 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075239_38075240insAAAA;NG_029519.1:g.8249_8250insAAAA;NM_005069.3:c.175+3018_175+3019insAAAA;NM_009586.2:c.175+3018_175+3019insAAAA 328091387 141068741 CEU_chr21_36997109_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075239_38075240insAAAA;NG_029519.1:g.8249_8250insAAAA;NM_005069.3:c.175+3018_175+3019insAAAA;NM_009586.2:c.175+3018_175+3019insAAAA 328316687 141068741 YRI_chr21_36997109_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 ILLUMINA 6493 NC_000021.8:g.38075239G>A;NG_029519.1:g.8249G>A;NM_005069.3:c.175+3018G>A;NM_009586.2:c.175+3018G>A 484105445 201200883 HumanOmni2.5-4v1_D_kgp8521102-0_T_F_1819820595 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075239G>A;NG_029519.1:g.8249G>A;NM_005069.3:c.175+3018G>A;NM_009586.2:c.175+3018G>A 484267464 201200883 HumanOmni2.5-4v1_B_SNP21-36997109-0_T_F_1618948108 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 1299614 875223 TSC0206193 variation has been flagged as failed by submitter 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 103822007 875223 BGI_rs875223 variation has been flagged as failed by submitter 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 112461564 875223 CEU.trio.12.15.2008_3763613_chr21_36997112 variation has been flagged as failed by submitter 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 168000352 875223 NA07022_36_chr21_36997112 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 204013923 875223 BUSHMAN-chr21-36997111 variation has been flagged as failed by submitter 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 208805259 875223 BCM_CMT_1011-3260692 variation has been flagged as failed by submitter 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 255945683 875223 SNP32819_21_36997112 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38075242G>A;NG_029519.1:g.8252G>A;NM_005069.3:c.175+3021G>A;NM_009586.2:c.175+3021G>A 283537634 875223 GMI_AK_SNP_7858055 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075242delG;NG_029519.1:g.8252delG;NM_005069.3:c.175+3021delG;NM_009586.2:c.175+3021delG 499804884 200376977 20110316_indels_chr21_38075241_38075241 4.17e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38075243_38075244insAA;NG_029519.1:g.8253_8254insAA;NM_005069.3:c.175+3022_175+3023insAA;NM_009586.2:c.175+3022_175+3023insAA 8108297 5843775 INDEL_GP31_45924 2003.04.16 2003.10.10 2003.04.21 2012.05.11 137 DEVINE_LAB 6493 NC_000021.8:g.38075243_38075244insAA;NG_029519.1:g.8253_8254insAA;NM_005069.3:c.175+3022_175+3023insAA;NM_009586.2:c.175+3022_175+3023insAA 49895268 5843775 INDEL_GP35_TSC_77242 2006.01.23 2006.01.23 2003.04.21 2012.05.11 137 TSC-CSHL 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 1299615 875224 TSC0206194 2.12e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 4029232 875224 AP000697.1_76435 2.12e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 44258818 875224 hCV9527064 2.12e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 66853923 875224 HumanHap300v1.1_rs875224 2.12e-01 2006.11.09 2006.11.09 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 67884766 875224 HumanHap550v1.1_rs875224 2.12e-01 2006.11.14 2006.11.14 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 68024122 875224 HumanHap650Yv1.0_rs875224 2.12e-01 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 70977021 875224 HumanHap550v3.0__rs875224 2.12e-01 2007.04.20 2008.03.31 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 71588755 875224 HumanHap650Yv3.0_rs875224 2.12e-01 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 75906864 875224 ILMN_Human_1M_rs875224 2.12e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 78722111 875224 Cor12878_SNV_20070510.chr21_36997183 2.12e-01 2007.10.20 2007.10.20 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 79285700 875224 HumanHap300v2.0_rs875224 2.12e-01 2007.11.18 2007.11.18 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 83588014 875224 KHS496446 2.12e-01 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 112461567 875224 CEU.trio.12.15.2008_3763614_chr21_36997183 2.12e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 113876894 875224 NA19240_2008_12_16_3401837_chr21_36997183 2.12e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 117520728 875224 NA18507_000036515_NCBI36.1_chr21_36997183 2.12e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 122928092 875224 HumanCNV370v1_C_rs875224 2.12e-01 2009.04.15 2009.04.15 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 154476172 875224 Human610_Quadv1_B_rs875224-128_T_F_1501877023 2.12e-01 2009.06.20 2009.06.20 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 159650631 875224 Human660W-Quad_v1_A_rs875224-128_T_F_1501877023 2.12e-01 2009.07.07 2009.07.07 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 160960906 875224 HumanOmni1-Quad_v1-0_B_rs875224-128_T_F_1512258881 2.12e-01 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 169455988 875224 NA19240_36_chr21_36997183 2.12e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 172416670 875224 HumanCNV370-Quadv3_C_rs875224-128_T_F_1501877023 2.12e-01 2009.10.02 2009.10.04 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 174759919 875224 Human1M-Duov3_B_rs875224-128_T_F_1501877023 2.12e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 208801251 875224 BCM_CMT_1011-3256684 2.12e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 228558628 875224 pilot_1_YRI_10368311_chr21_36997183 2.12e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 237978008 875224 pilot_1_CEU_7582637_chr21_36997183 2.12e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 244117249 875224 pilot_1_CHB+JPT_6002326_chr21_36997183 2.12e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 481818742 875224 HumanOmni2.5-4v1_B_rs875224-128_T_F_1782871490 2.12e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 481851288 875224 HumanOmniExpress-12v1_C_rs875224-131_T_F_1857539125 2.12e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 482811516 875224 HumanOmni1-Quad_v1-0_C_rs875224-131_T_F_1865373110 2.12e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075313G>A;NG_029519.1:g.8323G>A;NM_005069.3:c.175+3092G>A;NM_009586.2:c.175+3092G>A 485704000 875224 HumanOmni2.5-4v1_D_rs875224-131_T_F_1857539125 2.12e-01 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38075329A>G;NG_029519.1:g.8339A>G;NM_005069.3:c.175+3108A>G;NM_009586.2:c.175+3108A>G 13823370 9980675 chr21.NT_011512.9_23735725 1.40e-03 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075329A>G;NG_029519.1:g.8339A>G;NM_005069.3:c.175+3108A>G;NM_009586.2:c.175+3108A>G 466052550 9980675 20101123_snps_12219780_chr21_38075329 1.40e-03 2011.07.20 2011.07.20 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075363G>A;NG_029519.1:g.8373G>A;NM_005069.3:c.175+3142G>A;NM_009586.2:c.175+3142G>A 466052551 189605956 20101123_snps_12219781_chr21_38075363 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075370G>C;NG_029519.1:g.8380G>C;NM_005069.3:c.175+3149G>C;NM_009586.2:c.175+3149G>C 168000365 77112746 NA07022_36_chr21_36997240 2.34e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38075370G>C;NG_029519.1:g.8380G>C;NM_005069.3:c.175+3149G>C;NM_009586.2:c.175+3149G>C 204013924 77112746 BUSHMAN-chr21-36997239 2.34e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075370G>C;NG_029519.1:g.8380G>C;NM_005069.3:c.175+3149G>C;NM_009586.2:c.175+3149G>C 228558629 77112746 pilot_1_YRI_10368312_chr21_36997240 2.34e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075370G>C;NG_029519.1:g.8380G>C;NM_005069.3:c.175+3149G>C;NM_009586.2:c.175+3149G>C 237978009 77112746 pilot_1_CEU_7582638_chr21_36997240 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38075501G>C;NG_029519.1:g.8511G>C;NM_005069.3:c.175+3280G>C;NM_009586.2:c.175+3280G>C 466052552 192296259 20101123_snps_12219782_chr21_38075501 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38075599C>T;NG_029519.1:g.8609C>T;NM_005069.3:c.175+3378C>T;NM_009586.2:c.175+3378C>T 204013925 74631376 BUSHMAN-chr21-36997468 1.19e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075599C>T;NG_029519.1:g.8609C>T;NM_005069.3:c.175+3378C>T;NM_009586.2:c.175+3378C>T 228558630 74631376 pilot_1_YRI_10368313_chr21_36997469 1.19e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075602G>A;NG_029519.1:g.8612G>A;NM_005069.3:c.175+3381G>A;NM_009586.2:c.175+3381G>A 341012485 141092374 20100804_snps_12656026_chr21_38075602 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6493 NC_000021.8:g.38075624C>A;NG_029519.1:g.8634C>A;NM_005069.3:c.175+3403C>A;NM_009586.2:c.175+3403C>A 21825377 13050490 WGSA-200403-chr21.chr21.NT_011512.9_23736020 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 1299616 875225 TSC0206195 3.73e-01 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 3224920 875225 IMS-JST035004 3.73e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 10993178 875225 chr21.NT_011512.8_23736020 3.73e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 12517942 875225 chr21.NT_011512.8_23736020 3.73e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 14446387 875225 chr21.NT_011512.9_23736021 3.73e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 21824920 875225 WGSA-200403-chr21.chr21.NT_011512.9_23736021 3.73e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 44287158 875225 hCV9527071 3.73e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 78224703 875225 Cor12878_SNV_20070510.chr21_36997495 3.73e-01 2007.10.18 2007.10.18 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 91834619 875225 JWB-1494545 3.73e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 103822008 875225 BGI_rs875225 3.73e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 112461572 875225 CEU.trio.12.15.2008_3763615_chr21_36997495 3.73e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 113876903 875225 NA19240_2008_12_16_3401838_chr21_36997495 3.73e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 117520731 875225 NA18507_000036516_NCBI36.1_chr21_36997495 3.73e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 168000377 875225 NA07022_36_chr21_36997495 3.73e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 169456001 875225 NA19240_36_chr21_36997495 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 172013830 875225 NA20431_36_chr21_36997495 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 204013926 875225 BUSHMAN-chr21-36997494 3.73e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 208795902 875225 BCM_CMT_1011-3251335 3.73e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 228558631 875225 pilot_1_YRI_10368314_chr21_36997495 3.73e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 237978010 875225 pilot_1_CEU_7582639_chr21_36997495 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 244117250 875225 pilot_1_CHB+JPT_6002327_chr21_36997495 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 255945689 875225 SNP32820_21_36997495 3.73e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38075625A>T;NG_029519.1:g.8635A>T;NM_005069.3:c.175+3404A>T;NM_009586.2:c.175+3404A>T 283537635 875225 GMI_AK_SNP_7858056 3.73e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075627C>T;NG_029519.1:g.8637C>T;NM_005069.3:c.175+3406C>T;NM_009586.2:c.175+3406C>T 237978011 116903888 pilot_1_CEU_7582640_chr21_36997497 5.00e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 1350998 915753 TSC0200271 3.73e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 3224921 915753 IMS-JST035005 3.73e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 10975553 915753 chr21.NT_011512.8_23736035 3.73e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 12501357 915753 chr21.NT_011512.8_23736035 3.73e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 14447723 915753 chr21.NT_011512.9_23736036 3.73e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 16916250 915753 CSHL-HuAA-200402.chr21.NT_011512.9_23736036 3.73e-01 2004.02.18 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 21829395 915753 WGSA-200403-chr21.chr21.NT_011512.9_23736036 3.73e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 41464007 915753 hCV9527072 3.73e-01 2005.07.17 2005.07.17 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 78652978 915753 Cor12878_SNV_20070510.chr21_36997510 3.73e-01 2007.10.20 2007.10.20 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 91834622 915753 JWB-1494546 3.73e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 103822011 915753 BGI_rs915753 3.73e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 112461574 915753 CEU.trio.12.15.2008_3763616_chr21_36997510 3.73e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 113876908 915753 NA19240_2008_12_16_3401839_chr21_36997510 3.73e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 117520733 915753 NA18507_000036517_NCBI36.1_chr21_36997510 3.73e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 138314858 915753 ENSSNP11885092 3.73e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 168000390 915753 NA07022_36_chr21_36997510 3.73e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 169456017 915753 NA19240_36_chr21_36997510 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 172013839 915753 NA20431_36_chr21_36997510 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 204013927 915753 BUSHMAN-chr21-36997509 3.73e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 208801437 915753 BCM_CMT_1011-3256870 3.73e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 228558632 915753 pilot_1_YRI_10368315_chr21_36997510 3.73e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 237978012 915753 pilot_1_CEU_7582641_chr21_36997510 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 244117251 915753 pilot_1_CHB+JPT_6002328_chr21_36997510 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 283537636 915753 GMI_AK_SNP_7858057 3.73e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 292708608 915753 SNP_2214966_chr21_36997510 3.73e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 480491703 915753 HumanOmni2.5-4v1_D_kgp1406574-0_T_R_1820079108 3.73e-01 2012.01.31 2012.01.31 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075640T>C;NG_029519.1:g.8650T>C;NM_005069.3:c.175+3419T>C;NM_009586.2:c.175+3419T>C 484267466 915753 HumanOmni2.5-4v1_B_SNP21-36997510-0_T_R_1634488125 3.73e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075682G>C;NG_029519.1:g.8692G>C;NM_005069.3:c.175+3461G>C;NM_009586.2:c.175+3461G>C 168000403 78944375 NA07022_36_chr21_36997552 1.37e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075682G>C;NG_029519.1:g.8692G>C;NM_005069.3:c.175+3461G>C;NM_009586.2:c.175+3461G>C 228558633 78944375 pilot_1_YRI_10368316_chr21_36997552 1.37e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075682G>C;NG_029519.1:g.8692G>C;NM_005069.3:c.175+3461G>C;NM_009586.2:c.175+3461G>C 237978013 78944375 pilot_1_CEU_7582642_chr21_36997552 1.37e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 16915792 11702472 CSHL-HuAA-200402.chr21.NT_011512.9_23736100 4.99e-02 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 44278132 11702472 hCV2484156 4.99e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 78769896 11702472 Cor12878_SNV_20070510.chr21_36997574 4.99e-02 2007.10.20 2007.10.20 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 112461580 11702472 CEU.trio.12.15.2008_3763617_chr21_36997574 4.99e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 208791852 11702472 BCM_CMT_1011-3247285 4.99e-02 2010.03.20 2010.03.20 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 237978014 11702472 pilot_1_CEU_7582643_chr21_36997574 4.99e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 479700638 11702472 HumanOmni2.5-4v1_D_kgp11473377-0_B_R_1819916778 4.99e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075704G>A;NG_029519.1:g.8714G>A;NM_005069.3:c.175+3483G>A;NM_009586.2:c.175+3483G>A 484267468 11702472 HumanOmni2.5-4v1_B_SNP21-36997574-0_B_R_1634452000 4.99e-02 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075779G>A;NG_029519.1:g.8789G>A;NM_005069.3:c.175+3558G>A;NM_009586.2:c.175+3558G>A 341012487 147577309 20100804_snps_12656028_chr21_38075779 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 10976273 6517376 chr21.NT_011512.8_23736276 3.62e-02 2003.07.01 2004.04.07 2003.07.11 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 12502041 6517376 chr21.NT_011512.8_23736276 3.62e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 228558634 6517376 pilot_1_YRI_10368317_chr21_36997751 3.62e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 PJP 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 292708609 6517376 SNP_2214967_chr21_36997751 3.62e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 483037395 6517376 HumanOmni2.5-4v1_D_kgp2714206-0_T_R_1819936903 3.62e-02 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38075881T>C;NG_029519.1:g.8891T>C;NM_005069.3:c.175+3660T>C;NM_009586.2:c.175+3660T>C 484267470 6517376 HumanOmni2.5-4v1_B_SNP21-36997751-0_T_R_1630116230 3.62e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075931G>A;NG_029519.1:g.8941G>A;NM_005069.3:c.175+3710G>A;NM_009586.2:c.175+3710G>A 341012488 142056646 20100804_snps_12656029_chr21_38075931 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 3224922 2255972 IMS-JST035006 2.46e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 4029233 2255972 AP000697.1_77062 2.46e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 10974205 2255972 chr21.NT_011512.8_23736335 2.46e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 12500020 2255972 chr21.NT_011512.8_23736335 2.46e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 14447047 2255972 chr21.NT_011512.9_23736336 2.46e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 16915852 2255972 CSHL-HuAA-200402.chr21.NT_011512.9_23736336 2.46e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 78983728 2255972 Cor18507_SNV_20070510.chr21_36997810 2.46e-01 2007.10.21 2007.10.21 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 91834624 2255972 JWB-1494547 2.46e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 103822013 2255972 BGI_rs2255972 2.46e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 112461584 2255972 CEU.trio.12.15.2008_3763618_chr21_36997810 2.46e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 113876915 2255972 NA19240_2008_12_16_3401840_chr21_36997810 2.46e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 117520735 2255972 NA18507_000036518_NCBI36.1_chr21_36997810 2.46e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 138314859 2255972 ENSSNP6613057 2.46e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 168000416 2255972 NA07022_36_chr21_36997810 2.46e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 169456036 2255972 NA19240_36_chr21_36997810 2.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 172013848 2255972 NA20431_36_chr21_36997810 2.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 204013928 2255972 BUSHMAN-chr21-36997809 2.46e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 208796905 2255972 BCM_CMT_1011-3252338 2.46e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 228558635 2255972 pilot_1_YRI_10368318_chr21_36997810 2.46e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 237978015 2255972 pilot_1_CEU_7582644_chr21_36997810 2.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 244117252 2255972 pilot_1_CHB+JPT_6002329_chr21_36997810 2.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 255945691 2255972 SNP32821_21_36997810 2.46e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 283537637 2255972 GMI_AK_SNP_7858058 2.46e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38075940C>G;NG_029519.1:g.8950C>G;NM_005069.3:c.175+3719C>G;NM_009586.2:c.175+3719C>G 292708610 2255972 SNP_2214968_chr21_36997810 2.46e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38075943C>A;NG_029519.1:g.8953C>A;NM_005069.3:c.175+3722C>A;NM_009586.2:c.175+3722C>A 466052553 184250992 20101123_snps_12219783_chr21_38075943 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38075961G>A;NG_029519.1:g.8971G>A;NM_005069.3:c.175+3740G>A;NM_009586.2:c.175+3740G>A 112461587 73210769 CEU.trio.12.15.2008_3763619_chr21_36997831 4.58e-02 2008.12.17 2008.12.17 2009.02.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38075961G>A;NG_029519.1:g.8971G>A;NM_005069.3:c.175+3740G>A;NM_009586.2:c.175+3740G>A 237978016 73210769 pilot_1_CEU_7582645_chr21_36997831 4.58e-02 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38075974T>C;NG_029519.1:g.8984T>C;NM_005069.3:c.175+3753T>C;NM_009586.2:c.175+3753T>C 341012489 143791377 20100804_snps_12656030_chr21_38075974 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076011C>T;NG_029519.1:g.9021C>T;NM_005069.3:c.175+3790C>T;NM_009586.2:c.175+3790C>T 341012490 151084463 20100804_snps_12656031_chr21_38076011 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076012G>A;NG_029519.1:g.9022G>A;NM_005069.3:c.175+3791G>A;NM_009586.2:c.175+3791G>A 168000429 75444122 NA07022_36_chr21_36997882 1.05e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076012G>A;NG_029519.1:g.9022G>A;NM_005069.3:c.175+3791G>A;NM_009586.2:c.175+3791G>A 237978017 75444122 pilot_1_CEU_7582646_chr21_36997882 1.05e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 113876923 73387525 NA19240_2008_12_16_3401841_chr21_36997902 6.55e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 168000443 73387525 NA07022_36_chr21_36997902 6.55e-02 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 169456049 73387525 NA19240_36_chr21_36997902 6.55e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 204013929 73387525 BUSHMAN-chr21-36997901 6.55e-02 2010.03.10 2010.03.10 2009.02.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 228558636 73387525 pilot_1_YRI_10368319_chr21_36997902 6.55e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076032G>T;NG_029519.1:g.9042G>T;NM_005069.3:c.175+3811G>T;NM_009586.2:c.175+3811G>T 237978018 73387525 pilot_1_CEU_7582647_chr21_36997902 6.55e-02 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076038T>C;NG_029519.1:g.9048T>C;NM_005069.3:c.175+3817T>C;NM_009586.2:c.175+3817T>C 466052554 189627330 20101123_snps_12219784_chr21_38076038 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38076056C>T;NG_029519.1:g.9066C>T;NM_005069.3:c.175+3835C>T;NM_009586.2:c.175+3835C>T 204013930 113424925 BUSHMAN-chr21-36997925 1.51e-02 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076056C>T;NG_029519.1:g.9066C>T;NM_005069.3:c.175+3835C>T;NM_009586.2:c.175+3835C>T 228558637 113424925 pilot_1_YRI_10368320_chr21_36997926 1.51e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076101A>G;NG_029519.1:g.9111A>G;NM_005069.3:c.175+3880A>G;NM_009586.2:c.175+3880A>G 168000454 74996814 NA07022_36_chr21_36997971 2.47e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38076101A>G;NG_029519.1:g.9111A>G;NM_005069.3:c.175+3880A>G;NM_009586.2:c.175+3880A>G 204013931 74996814 BUSHMAN-chr21-36997970 2.47e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076101A>G;NG_029519.1:g.9111A>G;NM_005069.3:c.175+3880A>G;NM_009586.2:c.175+3880A>G 228558638 74996814 pilot_1_YRI_10368321_chr21_36997971 2.47e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076101A>G;NG_029519.1:g.9111A>G;NM_005069.3:c.175+3880A>G;NM_009586.2:c.175+3880A>G 237978019 74996814 pilot_1_CEU_7582648_chr21_36997971 2.47e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076105G>A;NG_029519.1:g.9115G>A;NM_005069.3:c.175+3884G>A;NM_009586.2:c.175+3884G>A 466052555 181148379 20101123_snps_12219785_chr21_38076105 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 3224923 2284984 IMS-JST035007 4.07e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 10975403 2284984 chr21.NT_011512.8_23736502 4.07e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 14447651 2284984 chr21.NT_011512.9_23736503 4.07e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 91834626 2284984 JWB-1494548 4.07e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 103822015 2284984 BGI_rs2284984 4.07e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 112461592 2284984 CEU.trio.12.15.2008_3763620_chr21_36997977 4.07e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 138314860 2284984 ENSSNP7201516 4.07e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 168000465 2284984 NA07022_36_chr21_36997977 4.07e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 172013856 2284984 NA20431_36_chr21_36997977 4.07e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 204013932 2284984 BUSHMAN-chr21-36997976 4.07e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 228558640 2284984 pilot_1_YRI_10368323_chr21_36997977 4.07e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 237978020 2284984 pilot_1_CEU_7582649_chr21_36997977 4.07e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 244117253 2284984 pilot_1_CHB+JPT_6002330_chr21_36997977 4.07e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 255945701 2284984 SNP32822_21_36997977 4.07e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38076107G>A;NG_029519.1:g.9117G>A;NM_005069.3:c.175+3886G>A;NM_009586.2:c.175+3886G>A 283537638 2284984 GMI_AK_SNP_7858059 4.07e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 168000483 79108538 NA07022_36_chr21_36998086 2.79e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 204013933 79108538 BUSHMAN-chr21-36998085 2.79e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 228558641 79108538 pilot_1_YRI_10368324_chr21_36998086 2.79e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 237978021 79108538 pilot_1_CEU_7582650_chr21_36998086 2.79e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 480599940 79108538 HumanOmni2.5-4v1_D_kgp1447177-0_B_R_1819868004 2.79e-02 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38076216A>C;NG_029519.1:g.9226A>C;NM_005069.3:c.175+3995A>C;NM_009586.2:c.175+3995A>C 484267472 79108538 HumanOmni2.5-4v1_B_SNP21-36998086-0_B_R_1631677572 2.79e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 1302439 877382 TSC0210024 2.88e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 3224924 877382 IMS-JST035008 2.88e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 4040778 877382 D85922.1_15767 2.88e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 5890356 877382 NT_011512.6_23653682 2.88e-01 2003.01.11 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 10975278 877382 chr21.NT_011512.8_23736673 2.88e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 14447575 877382 chr21.NT_011512.9_23736674 2.88e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 41477640 877382 hCV9527073 2.88e-01 2005.07.17 2006.11.03 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 91834629 877382 JWB-1494549 2.88e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 103822017 877382 BGI_rs877382 2.88e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 112461596 877382 CEU.trio.12.15.2008_3763621_chr21_36998148 2.88e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 113876933 877382 NA19240_2008_12_16_3401842_chr21_36998148 2.88e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 117520737 877382 NA18507_000036519_NCBI36.1_chr21_36998148 2.88e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 138314861 877382 ENSSNP5812666 2.88e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 168000494 877382 NA07022_36_chr21_36998148 2.88e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 169456066 877382 NA19240_36_chr21_36998148 2.88e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 172013862 877382 NA20431_36_chr21_36998148 2.88e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 204013934 877382 BUSHMAN-chr21-36998147 2.88e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 208794235 877382 BCM_CMT_1011-3249668 2.88e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 228558642 877382 pilot_1_YRI_10368325_chr21_36998148 2.88e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 237978022 877382 pilot_1_CEU_7582651_chr21_36998148 2.88e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 244117254 877382 pilot_1_CHB+JPT_6002331_chr21_36998148 2.88e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 283537639 877382 GMI_AK_SNP_7858060 2.88e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38076278C>T;NG_029519.1:g.9288C>T;NM_005069.3:c.175+4057C>T;NM_009586.2:c.175+4057C>T 292708611 877382 SNP_2214969_chr21_36998148 2.88e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 1302438 877381 TSC0210023 4.08e-02 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 6017339 877381 NT_011512.6_23653727 4.08e-02 2003.01.12 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 10975542 877381 chr21.NT_011512.8_23736718 4.08e-02 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 44257459 877381 hCV9527080 4.08e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 113876943 877381 NA19240_2008_12_16_3401843_chr21_36998193 4.08e-02 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 169456084 877381 NA19240_36_chr21_36998193 4.08e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076323C>G;NG_029519.1:g.9333C>G;NM_005069.3:c.175+4102C>G;NM_009586.2:c.175+4102C>G 228558643 877381 pilot_1_YRI_10368326_chr21_36998193 4.08e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38076329C>A;NG_029519.1:g.9339C>A;NM_005069.3:c.175+4108C>A;NM_009586.2:c.175+4108C>A 466052556 186189113 20101123_snps_12219786_chr21_38076329 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38076362G>C;NG_029519.1:g.9372G>C;NM_005069.3:c.175+4141G>C;NM_009586.2:c.175+4141G>C 228558644 75720515 pilot_1_YRI_10368327_chr21_36998232 5.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38076368G>A;NG_029519.1:g.9378G>A;NM_005069.3:c.175+4147G>A;NM_009586.2:c.175+4147G>A 466052557 188996948 20101123_snps_12219787_chr21_38076368 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38076540C>T;NG_029519.1:g.9550C>T;NM_005069.3:c.175+4319C>T;NM_009586.2:c.175+4319C>T 466052558 182032335 20101123_snps_12219788_chr21_38076540 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38076592A>G;NG_029519.1:g.9602A>G;NM_005069.3:c.175+4371A>G;NM_009586.2:c.175+4371A>G 466052559 187153554 20101123_snps_12219789_chr21_38076592 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38076801G>A;NG_029519.1:g.9811G>A;NM_005069.3:c.175+4580G>A;NM_009586.2:c.175+4580G>A 341012491 141117455 20100804_snps_12656032_chr21_38076801 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38076932G>A;NG_029519.1:g.9942G>A;NM_005069.3:c.176-4536G>A;NM_009586.2:c.176-4536G>A 466052560 191219477 20101123_snps_12219790_chr21_38076932 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38077018G>A;NG_029519.1:g.10028G>A;NM_005069.3:c.176-4450G>A;NM_009586.2:c.176-4450G>A 168000503 112271721 NA07022_36_chr21_36998888 1.19e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077018G>A;NG_029519.1:g.10028G>A;NM_005069.3:c.176-4450G>A;NM_009586.2:c.176-4450G>A 237978023 112271721 pilot_1_CEU_7582652_chr21_36998888 1.19e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077087C>T;NG_029519.1:g.10097C>T;NM_005069.3:c.176-4381C>T;NM_009586.2:c.176-4381C>T 228558645 114225481 pilot_1_YRI_10368328_chr21_36998957 1.88e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077111G>T;NG_029519.1:g.10121G>T;NM_005069.3:c.176-4357G>T;NM_009586.2:c.176-4357G>T 341012492 150262392 20100804_snps_12656033_chr21_38077111 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38077284G>A;NG_029519.1:g.10294G>A;NM_005069.3:c.176-4184G>A;NM_009586.2:c.176-4184G>A 168000517 76738417 NA07022_36_chr21_36999154 1.05e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077284G>A;NG_029519.1:g.10294G>A;NM_005069.3:c.176-4184G>A;NM_009586.2:c.176-4184G>A 237978024 76738417 pilot_1_CEU_7582653_chr21_36999154 1.05e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077404T>A;NG_029519.1:g.10414T>A;NM_005069.3:c.176-4064T>A;NM_009586.2:c.176-4064T>A 466052561 182590099 20101123_snps_12219791_chr21_38077404 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 84291 737380 TSC0032459 2.92e-01 2000.09.06 2004.05.16 2000.10.05 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 4035517 737380 AP001726.1_262897 2.92e-01 2001.09.26 2003.10.10 2000.10.05 2011.09.09 137 WI_SSAHASNP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 12512295 737380 chr21.NT_011512.8_23737863 2.92e-01 2003.07.04 2003.10.10 2000.10.05 2011.09.09 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 14433409 737380 chr21.NT_011512.9_23737864 2.92e-01 2003.11.07 2003.11.22 2000.10.05 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 16907253 737380 CSHL-HuAA-200402.chr21.NT_011512.9_23737864 2.92e-01 2004.02.18 2004.03.04 2000.10.05 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 17704655 737380 CSHL-HuCC-200402.chr21.NT_011512.9_23737864 2.92e-01 2004.02.19 2004.03.04 2000.10.05 2011.09.09 137 SSAHASNP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 21815025 737380 WGSA-200403-chr21.chr21.NT_011512.9_23737864 2.92e-01 2004.03.20 2004.03.20 2000.10.05 2011.09.09 137 ABI 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 44281020 737380 hCV2484157 2.92e-01 2005.07.18 2006.11.03 2000.10.05 2011.09.09 137 AFFY 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 66241004 737380 SNP_A-4270522 2.92e-01 2006.10.28 2007.08.14 2000.10.05 2011.09.09 137 AFFY 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 76386785 737380 AFFY_6_1M_SNP_A-4270522 2.92e-01 2007.08.30 2007.08.30 2000.10.05 2011.09.09 137 HGSV 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 78835311 737380 Cor18507_SNV_20070510.chr21_36999338 2.92e-01 2007.10.20 2007.10.20 2000.10.05 2011.09.09 137 KRIBB_YJKIM 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 81435418 737380 KHS61603 2.92e-01 2007.11.30 2007.11.30 2000.10.05 2011.09.09 137 BGI 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 103822019 737380 BGI_rs737380 2.92e-01 2008.06.07 2009.06.18 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 112461600 737380 CEU.trio.12.15.2008_3763622_chr21_36999338 2.92e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 113876951 737380 NA19240_2008_12_16_3401844_chr21_36999338 2.92e-01 2008.12.18 2008.12.18 2000.10.05 2011.09.09 137 ILLUMINA-UK 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 117520739 737380 NA18507_000036520_NCBI36.1_chr21_36999338 2.92e-01 2009.01.19 2009.01.19 2000.10.05 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 161360952 737380 ENSSNP1974368 2.92e-01 2009.09.24 2009.09.24 2000.10.05 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 168000529 737380 NA07022_36_chr21_36999338 2.92e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 137 AFFY 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 173444273 737380 GenomeWideSNP_5_SNP_A-4270522 2.92e-01 2009.10.03 2009.10.03 2000.10.05 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 204013935 737380 BUSHMAN-chr21-36999337 2.92e-01 2010.03.10 2010.03.10 2000.10.05 2011.09.09 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 208804269 737380 BCM_CMT_1011-3259702 2.92e-01 2010.03.20 2010.03.20 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 228558646 737380 pilot_1_YRI_10368329_chr21_36999338 2.92e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 237978025 737380 pilot_1_CEU_7582654_chr21_36999338 2.92e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 244117256 737380 pilot_1_CHB+JPT_6002333_chr21_36999338 2.92e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 137 BL 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 255945703 737380 SNP32823_21_36999338 2.92e-01 2010.08.20 2010.08.20 2000.10.05 2011.09.09 137 PJP 6493 NC_000021.8:g.38077468A>G;NG_029519.1:g.10478A>G;NM_005069.3:c.176-4000A>G;NM_009586.2:c.176-4000A>G 292708612 737380 SNP_2214970_chr21_36999338 2.92e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077486G>T;NG_029519.1:g.10496G>T;NM_005069.3:c.176-3982G>T;NM_009586.2:c.176-3982G>T 466052562 185944132 20101123_snps_12219792_chr21_38077486 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38077510C>T;NG_029519.1:g.10520C>T;NM_005069.3:c.176-3958C>T;NM_009586.2:c.176-3958C>T 168000545 74534338 NA07022_36_chr21_36999380 5.59e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38077510C>T;NG_029519.1:g.10520C>T;NM_005069.3:c.176-3958C>T;NM_009586.2:c.176-3958C>T 204013936 74534338 BUSHMAN-chr21-36999379 5.59e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077510C>T;NG_029519.1:g.10520C>T;NM_005069.3:c.176-3958C>T;NM_009586.2:c.176-3958C>T 228558647 74534338 pilot_1_YRI_10368330_chr21_36999380 5.59e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077510C>T;NG_029519.1:g.10520C>T;NM_005069.3:c.176-3958C>T;NM_009586.2:c.176-3958C>T 237978026 74534338 pilot_1_CEU_7582655_chr21_36999380 5.59e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38077512C>T;NG_029519.1:g.10522C>T;NM_005069.3:c.176-3956C>T;NM_009586.2:c.176-3956C>T 466052563 191266548 20101123_snps_12219793_chr21_38077512 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 17704994 11909356 CSHL-HuCC-200402.chr21.NT_011512.9_23737940 1.34e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 21817029 11909356 WGSA-200403-chr21.chr21.NT_011512.9_23737940 1.34e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 44245881 11909356 hCV2484158 1.34e-01 2005.07.18 2008.03.31 2004.02.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 76773209 11909356 AFFY_6_1M_SNP_A-8634661 1.34e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 105040122 11909356 KHS1432445 1.34e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 161360953 11909356 ENSSNP1974369 1.34e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 237978027 11909356 pilot_1_CEU_7582656_chr21_36999414 1.34e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 244117257 11909356 pilot_1_CHB+JPT_6002334_chr21_36999414 1.34e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38077544G>T;NG_029519.1:g.10554G>T;NM_005069.3:c.176-3924G>T;NM_009586.2:c.176-3924G>T 283537641 11909356 GMI_AK_SNP_7858062 1.34e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38077764A>C;NG_029519.1:g.10774A>C;NM_005069.3:c.176-3704A>C;NM_009586.2:c.176-3704A>C 84436 737489 TSC0032666 5.08e-02 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38077764A>C;NG_029519.1:g.10774A>C;NM_005069.3:c.176-3704A>C;NM_009586.2:c.176-3704A>C 5849770 737489 NT_011512.6_23655168 5.08e-02 2003.01.11 2003.10.10 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38077764A>C;NG_029519.1:g.10774A>C;NM_005069.3:c.176-3704A>C;NM_009586.2:c.176-3704A>C 44244542 737489 hCV2231445 5.08e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077764A>C;NG_029519.1:g.10774A>C;NM_005069.3:c.176-3704A>C;NM_009586.2:c.176-3704A>C 237978028 737489 pilot_1_CEU_7582657_chr21_36999634 5.08e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38077988C>T;NG_029519.1:g.10998C>T;NM_005069.3:c.176-3480C>T;NM_009586.2:c.176-3480C>T 341012493 138825897 20100804_snps_12656034_chr21_38077988 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078003G>C;NG_029519.1:g.11013G>C;NM_005069.3:c.176-3465G>C;NM_009586.2:c.176-3465G>C 237978029 117225704 pilot_1_CEU_7582658_chr21_36999873 1.56e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078081T>A;NG_029519.1:g.11091T>A;NM_005069.3:c.176-3387T>A;NM_009586.2:c.176-3387T>A 466052564 182453828 20101123_snps_12219794_chr21_38078081 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 6493 NC_000021.8:g.38078101G>A;NG_029519.1:g.11111G>A;NM_005069.3:c.176-3367G>A;NM_009586.2:c.176-3367G>A 103822021 75071410 BGI_YHSNP0165403 2008.06.07 2009.06.18 2009.12.01 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38078268G>C;NG_029519.1:g.11278G>C;NM_005069.3:c.176-3200G>C;NM_009586.2:c.176-3200G>C 1351199 915892 TSC0200506 2000.09.06 2003.10.10 2000.10.05 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38078268G>C;NG_029519.1:g.11278G>C;NM_005069.3:c.176-3200G>C;NM_009586.2:c.176-3200G>C 4029234 915892 AP000697.1_79390 2001.09.26 2003.10.10 2000.10.05 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38078269C>G;NG_029519.1:g.11279C>G;NM_005069.3:c.176-3199C>G;NM_009586.2:c.176-3199C>G 1351200 915893 TSC0200507 2000.09.06 2003.10.10 2000.10.05 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38078269C>G;NG_029519.1:g.11279C>G;NM_005069.3:c.176-3199C>G;NM_009586.2:c.176-3199C>G 4029235 915893 AP000697.1_79391 2001.09.26 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38078280C>T;NG_029519.1:g.11290C>T;NM_005069.3:c.176-3188C>T;NM_009586.2:c.176-3188C>T 237978030 77659217 pilot_1_CEU_7582659_chr21_37000150 1.33e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078280C>T;NG_029519.1:g.11290C>T;NM_005069.3:c.176-3188C>T;NM_009586.2:c.176-3188C>T 244117258 77659217 pilot_1_CHB+JPT_6002335_chr21_37000150 1.33e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38078280C>T;NG_029519.1:g.11290C>T;NM_005069.3:c.176-3188C>T;NM_009586.2:c.176-3188C>T 283537642 77659217 GMI_AK_SNP_7858063 1.33e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078280C>T;NG_029519.1:g.11290C>T;NM_005069.3:c.176-3188C>T;NM_009586.2:c.176-3188C>T 483742736 77659217 HumanOmni2.5-4v1_D_kgp6537106-0_T_R_1820103997 1.33e-01 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078280C>T;NG_029519.1:g.11290C>T;NM_005069.3:c.176-3188C>T;NM_009586.2:c.176-3188C>T 484267474 77659217 HumanOmni2.5-4v1_B_SNP21-37000150-0_T_R_1634484790 1.33e-01 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38078415C>G;NG_029519.1:g.11425C>G;NM_005069.3:c.176-3053C>G;NM_009586.2:c.176-3053C>G 168000557 80280914 NA07022_36_chr21_37000285 3.21e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38078415C>G;NG_029519.1:g.11425C>G;NM_005069.3:c.176-3053C>G;NM_009586.2:c.176-3053C>G 204013937 80280914 BUSHMAN-chr21-37000284 3.21e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078415C>G;NG_029519.1:g.11425C>G;NM_005069.3:c.176-3053C>G;NM_009586.2:c.176-3053C>G 228558649 80280914 pilot_1_YRI_10368332_chr21_37000285 3.21e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078415C>G;NG_029519.1:g.11425C>G;NM_005069.3:c.176-3053C>G;NM_009586.2:c.176-3053C>G 237978031 80280914 pilot_1_CEU_7582660_chr21_37000285 3.21e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078483G>C;NG_029519.1:g.11493G>C;NM_005069.3:c.176-2985G>C;NM_009586.2:c.176-2985G>C 341012494 141909010 20100804_snps_12656035_chr21_38078483 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38078491A>C;NG_029519.1:g.11501A>C;NM_005069.3:c.176-2977A>C;NM_009586.2:c.176-2977A>C 136050 762366 TSC0115559 4.58e-02 2000.09.06 2003.10.10 2000.10.05 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38078491A>C;NG_029519.1:g.11501A>C;NM_005069.3:c.176-2977A>C;NM_009586.2:c.176-2977A>C 4035518 762366 AP001726.1_263920 4.58e-02 2001.09.26 2003.10.10 2000.10.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078491A>C;NG_029519.1:g.11501A>C;NM_005069.3:c.176-2977A>C;NM_009586.2:c.176-2977A>C 228558650 762366 pilot_1_YRI_10368333_chr21_37000361 4.58e-02 2010.04.22 2010.04.22 2000.10.05 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 3376103 2409840 TSC1651315 4.78e-01 2001.09.20 2004.04.07 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 10978925 2409840 chr21.NT_011512.8_23738948 4.78e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 12504639 2409840 chr21.NT_011512.8_23738948 4.78e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 14439305 2409840 chr21.NT_011512.9_23738949 4.78e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 66710952 2409840 HumanHap300v1.1_rs2409840 4.78e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 67252544 2409840 HumanHap550v1.1_rs2409840 4.78e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 67650431 2409840 HumanHap650Yv1.0_rs2409840 4.78e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 70730886 2409840 HumanHap550v3.0__rs2409840 4.78e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 71300348 2409840 HumanHap650Yv3.0_rs2409840 4.78e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 75647143 2409840 ILMN_Human_1M_rs2409840 4.78e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 79133933 2409840 HumanHap300v2.0_rs2409840 4.78e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 80733579 2409840 KHS1007041 4.78e-01 2007.11.26 2007.11.26 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 82216057 2409840 Cor18555_SNV_20070510.chr21_37000423 4.78e-01 2007.12.02 2007.12.02 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 84046581 2409840 KHS613657 4.78e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 91834631 2409840 JWB-1494550 4.78e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 103822023 2409840 BGI_rs2409840 4.78e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 112461604 2409840 CEU.trio.12.15.2008_3763623_chr21_37000423 4.78e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 113876956 2409840 NA19240_2008_12_16_3401845_chr21_37000423 4.78e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 117520741 2409840 NA18507_000036521_NCBI36.1_chr21_37000423 4.78e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 122028850 2409840 HumanCNV370v1_C_rs2409840 4.78e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 153910412 2409840 Human610_Quadv1_B_rs2409840-128_T_R_1501723534 4.78e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 159388246 2409840 Human660W-Quad_v1_A_rs2409840-128_T_R_1501723534 4.78e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 168000570 2409840 NA07022_36_chr21_37000423 4.78e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 169456097 2409840 NA19240_36_chr21_37000423 4.78e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 171245671 2409840 HumanCNV370-Quadv3_C_rs2409840-128_T_R_1501723534 4.78e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 172013872 2409840 NA20431_36_chr21_37000423 4.78e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 173331829 2409840 Human1M-Duov3_B_rs2409840-128_T_R_1501723534 4.78e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 204013938 2409840 BUSHMAN-chr21-37000422 4.78e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 209088262 2409840 ALS_iSelect_272541_A_rs2409840-127_T_R_IFB1223183145 4.78e-01 2010.03.24 2010.03.24 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 228558651 2409840 pilot_1_YRI_10368334_chr21_37000423 4.78e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 237978032 2409840 pilot_1_CEU_7582661_chr21_37000423 4.78e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 244117259 2409840 pilot_1_CHB+JPT_6002336_chr21_37000423 4.78e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 255945713 2409840 SNP32824_21_37000423 4.78e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 283537643 2409840 GMI_AK_SNP_7858064 4.78e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38078553C>T;NG_029519.1:g.11563C>T;NM_005069.3:c.176-2915C>T;NM_009586.2:c.176-2915C>T 292708613 2409840 SNP_2214971_chr21_37000423 4.78e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 13824328 9981556 chr21.NT_011512.9_23739022 2.06e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 103822024 9981556 BGI_rs9981556 2.06e-01 2008.06.07 2009.06.18 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 112461608 9981556 CEU.trio.12.15.2008_3763624_chr21_37000496 2.06e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 237978033 9981556 pilot_1_CEU_7582662_chr21_37000496 2.06e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 244117260 9981556 pilot_1_CHB+JPT_6002337_chr21_37000496 2.06e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 255945716 9981556 SNP32825_21_37000496 2.06e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 283537644 9981556 GMI_AK_SNP_7858065 2.06e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 484047636 9981556 HumanOmni2.5-4v1_D_kgp8203930-0_B_F_1819882205 2.06e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38078626C>G;NG_029519.1:g.11636C>G;NM_005069.3:c.176-2842C>G;NM_009586.2:c.176-2842C>G 484267476 9981556 HumanOmni2.5-4v1_B_SNP21-37000496-0_B_F_1618959012 2.06e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38078662C>T;NG_029519.1:g.11672C>T;NM_005069.3:c.176-2806C>T;NM_009586.2:c.176-2806C>T 12512444 8132196 chr21.NT_011512.8_23739057 1.79e-02 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078662C>T;NG_029519.1:g.11672C>T;NM_005069.3:c.176-2806C>T;NM_009586.2:c.176-2806C>T 228558652 8132196 pilot_1_YRI_10368335_chr21_37000532 1.79e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38078689C>A;NG_029519.1:g.11699C>A;NM_005069.3:c.176-2779C>A;NM_009586.2:c.176-2779C>A 466052565 187487170 20101123_snps_12219795_chr21_38078689 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38078771A>G;NG_029519.1:g.11781A>G;NM_005069.3:c.176-2697A>G;NM_009586.2:c.176-2697A>G 466052566 192044625 20101123_snps_12219796_chr21_38078771 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38078830C>A;NG_029519.1:g.11840C>A;NM_005069.3:c.176-2638C>A;NM_009586.2:c.176-2638C>A 13824521 9981727 chr21.NT_011512.9_23739226 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38078969C>G;NG_029519.1:g.11979C>G;NM_005069.3:c.176-2499C>G;NM_009586.2:c.176-2499C>G 13824630 9981828 chr21.NT_011512.9_23739365 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38078986G>A;NG_029519.1:g.11996G>A;NM_005069.3:c.176-2482G>A;NM_009586.2:c.176-2482G>A 341012495 145702958 20100804_snps_12656036_chr21_38078986 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 168000581 77652672 NA07022_36_chr21_37000872 2.93e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 204013939 77652672 BUSHMAN-chr21-37000871 2.93e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 228558653 77652672 pilot_1_YRI_10368336_chr21_37000872 2.93e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 237978034 77652672 pilot_1_CEU_7582663_chr21_37000872 2.93e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 484239326 77652672 HumanOmni2.5-4v1_D_kgp9251387-0_T_F_1819911258 2.93e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38079002G>A;NG_029519.1:g.12012G>A;NM_005069.3:c.176-2466G>A;NM_009586.2:c.176-2466G>A 484267478 77652672 HumanOmni2.5-4v1_B_SNP21-37000872-0_T_F_1618958111 2.93e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079108C>T;NG_029519.1:g.12118C>T;NM_005069.3:c.176-2360C>T;NM_009586.2:c.176-2360C>T 341012496 138369007 20100804_snps_12656037_chr21_38079108 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38079156A>G;NG_029519.1:g.12166A>G;NM_005069.3:c.176-2312A>G;NM_009586.2:c.176-2312A>G 466052567 183436638 20101123_snps_12219797_chr21_38079156 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38079329G>C;NG_029519.1:g.12339G>C;NM_005069.3:c.176-2139G>C;NM_009586.2:c.176-2139G>C 341012497 142835700 20100804_snps_12656038_chr21_38079329 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38079358C>T;NG_029519.1:g.12368C>T;NM_005069.3:c.176-2110C>T;NM_009586.2:c.176-2110C>T 341012498 144073007 20100804_snps_12656039_chr21_38079358 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38079393C>T;NG_029519.1:g.12403C>T;NM_005069.3:c.176-2075C>T;NM_009586.2:c.176-2075C>T 168000594 77473618 NA07022_36_chr21_37001263 2.34e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079393C>T;NG_029519.1:g.12403C>T;NM_005069.3:c.176-2075C>T;NM_009586.2:c.176-2075C>T 228558654 77473618 pilot_1_YRI_10368337_chr21_37001263 2.34e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079393C>T;NG_029519.1:g.12403C>T;NM_005069.3:c.176-2075C>T;NM_009586.2:c.176-2075C>T 237978035 77473618 pilot_1_CEU_7582664_chr21_37001263 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38079402C>A;NG_029519.1:g.12412C>A;NM_005069.3:c.176-2066C>A;NM_009586.2:c.176-2066C>A 228558655 116523341 pilot_1_YRI_10368338_chr21_37001272 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38079699delC;NG_029519.1:g.12709delC;NM_005069.3:c.176-1769delC;NM_009586.2:c.176-1769delC 8108298 5843776 INDEL_GP31_173220 2003.04.16 2003.10.10 2003.04.21 2012.05.11 137 ABI 6493 NC_000021.8:g.38079699delC;NG_029519.1:g.12709delC;NM_005069.3:c.176-1769delC;NM_009586.2:c.176-1769delC 41491177 5843776 hCV26794139 2005.07.17 2005.07.17 2003.04.21 2012.05.11 137 1000GENOMES 6493 NC_000021.8:g.38079895_38079897delAAC;NG_029519.1:g.12905_12907delAAC;NM_005069.3:c.176-1573_176-1571delAAC;NM_009586.2:c.176-1573_176-1571delAAC 499804888 201025803 20110316_indels_chr21_38079894_38079896 8.20e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38079898delT;NG_029519.1:g.12908delT;NM_005069.3:c.176-1570delT;NM_009586.2:c.176-1570delT 102413989 72430666 INDEL_GP36_2008a_2230502_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38079934A>G;NG_029519.1:g.12944A>G;NM_005069.3:c.176-1534A>G;NM_009586.2:c.176-1534A>G 466052568 188780728 20101123_snps_12219798_chr21_38079934 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38079954C>A;NG_029519.1:g.12964C>A;NM_005069.3:c.176-1514C>A;NM_009586.2:c.176-1514C>A 237978036 77704084 pilot_1_CEU_7582665_chr21_37001824 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 6493 NC_000021.8:g.38079954C>A;NG_029519.1:g.12964C>A;NM_005069.3:c.176-1514C>A;NM_009586.2:c.176-1514C>A 255945725 77704084 SNP32826_21_37001824 3.39e-02 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 GMI 6493 NC_000021.8:g.38079991G>A;NG_029519.1:g.13001G>A;NM_005069.3:c.176-1477G>A;NM_009586.2:c.176-1477G>A 283537645 201446421 GMI_AK_SNP_7858066 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38080270_38080271insCG;NG_029519.1:g.13280_13281insCG;NM_005069.3:c.176-1198_176-1197insCG;NM_009586.2:c.176-1198_176-1197insCG 499804892 199545428 20110316_indels_chr21_38080270_38080271 2.90e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38080271_38080272insGCAG;NC_000021.8:g.38080271_38080272insGCAGTTCCTGGGGTGGGGAGCGGGC;NG_029519.1:g.13281_13282insGCAG;NG_029519.1:g.13281_13282insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_005069.3:c.176-1197_176-1196insGCAG;NM_005069.3:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_009586.2:c.176-1197_176-1196insGCAG;NM_009586.2:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC 8480661 6147499 INDEL_GP31_54549 2003.04.18 2003.10.10 2003.04.21 2012.05.16 137 1000GENOMES 6493 NC_000021.8:g.38080271_38080272insGCAG;NC_000021.8:g.38080271_38080272insGCAGTTCCTGGGGTGGGGAGCGGGC;NG_029519.1:g.13281_13282insGCAG;NG_029519.1:g.13281_13282insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_005069.3:c.176-1197_176-1196insGCAG;NM_005069.3:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_009586.2:c.176-1197_176-1196insGCAG;NM_009586.2:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC 327986058 6147499 JPTCHB_chr21_37002141_indel 2011.03.13 2011.04.03 2003.04.21 2012.05.16 137 1000GENOMES 6493 NC_000021.8:g.38080271_38080272insGCAG;NC_000021.8:g.38080271_38080272insGCAGTTCCTGGGGTGGGGAGCGGGC;NG_029519.1:g.13281_13282insGCAG;NG_029519.1:g.13281_13282insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_005069.3:c.176-1197_176-1196insGCAG;NM_005069.3:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_009586.2:c.176-1197_176-1196insGCAG;NM_009586.2:c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC 328316688 6147499 YRI_chr21_37002141_indel 2011.03.13 2011.04.04 2003.04.21 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38080272_38080273insGCAGTTCCTGGGGTGGGGAGCGGGC;NG_029519.1:g.13282_13283insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_005069.3:c.176-1196_176-1195insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_009586.2:c.176-1196_176-1195insGCAGTTCCTGGGGTGGGGAGCGGGC 49990823 35893162 INDEL_GP35_TSC_652577 2006.01.23 2006.01.23 2006.03.15 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38080272_38080273insGCAGTTCCTGGGGTGGGGAGCGGGC;NG_029519.1:g.13282_13283insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_005069.3:c.176-1196_176-1195insGCAGTTCCTGGGGTGGGGAGCGGGC;NM_009586.2:c.176-1196_176-1195insGCAGTTCCTGGGGTGGGGAGCGGGC 100951284 35893162 INDEL_GP36_2008a_2629027_0 2008.05.17 2008.05.17 2006.03.15 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38080274_38080275insAGTTCCTGGGGTGGGGAGCGGGCAT;NG_029519.1:g.13284_13285insAGTTCCTGGGGTGGGGAGCGGGCAT;NM_005069.3:c.176-1194_176-1193insAGTTCCTGGGGTGGGGAGCGGGCAT;NM_009586.2:c.176-1194_176-1193insAGTTCCTGGGGTGGGGAGCGGGCAT 101174537 72170199 INDEL_GP36_2008a_2613210_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38080275_38080276insGGCATCG;NG_029519.1:g.13285_13286insGGCATCG;NM_005069.3:c.176-1193_176-1192insGGCATCG;NM_009586.2:c.176-1193_176-1192insGGCATCG 4262090 3031053 TSC1651316 2001.11.09 2003.10.10 2002.01.05 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 1419031 2854040 TSC0278409 2.57e-01 2002.09.21 2003.10.10 2001.09.28 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 4040779 2854040 D85922.1_19834 2.57e-01 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 4092209 2854040 TSC1781133 2.57e-01 2001.10.02 2003.10.10 2001.09.28 2011.09.09 137 ABI 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 41497898 2854040 hCV9527089 2.57e-01 2005.07.17 2005.07.17 2001.09.28 2011.09.09 137 HGSV 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 81542456 2854040 Cor18555_SNV_20070510.chr21_37002188 2.57e-01 2007.11.30 2007.11.30 2001.09.28 2011.09.09 137 BCMHGSC_JDW 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 91834633 2854040 JWB-1494551 2.57e-01 2008.03.02 2008.03.02 2001.09.28 2011.09.09 137 BGI 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 103822027 2854040 BGI_rs2854040 2.57e-01 2008.06.07 2009.06.18 2001.09.28 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 138314862 2854040 ENSSNP11885096 2.57e-01 2009.05.17 2009.05.17 2001.09.28 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 168000610 2854040 NA07022_36_chr21_37002188 2.57e-01 2009.09.30 2009.09.30 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 228558656 2854040 pilot_1_YRI_10368339_chr21_37002188 2.57e-01 2010.04.22 2010.04.22 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 237978037 2854040 pilot_1_CEU_7582666_chr21_37002188 2.57e-01 2010.05.01 2010.05.01 2001.09.28 2011.09.09 137 BL 6493 NC_000021.8:g.38080318T>C;NG_029519.1:g.13328T>C;NM_005069.3:c.176-1150T>C;NM_009586.2:c.176-1150T>C 255945729 2854040 SNP32827_21_37002188 2.57e-01 2010.08.20 2010.08.20 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38080551G>A;NG_029519.1:g.13561G>A;NM_005069.3:c.176-917G>A;NM_009586.2:c.176-917G>A 466052569 193211437 20101123_snps_12219799_chr21_38080551 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38080707G>A;NG_029519.1:g.13717G>A;NM_005069.3:c.176-761G>A;NM_009586.2:c.176-761G>A 466052570 184419003 20101123_snps_12219800_chr21_38080707 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 3203182 2256622 IMS-JST023266 2.52e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 4035519 2256622 AP001726.1_266168 2.52e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 10990380 2256622 chr21.NT_011512.8_23741134 2.52e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 65755891 2256622 Human1-rs2256622 2.52e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 83238106 2256622 Cor18555_SNV_20070510.chr21_37002609 2.52e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 103822029 2256622 BGI_rs2256622 2.52e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 112461612 2256622 CEU.trio.12.15.2008_3763625_chr21_37002609 2.52e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 113876967 2256622 NA19240_2008_12_16_3401846_chr21_37002609 2.52e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 117520742 2256622 NA18507_000036522_NCBI36.1_chr21_37002609 2.52e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 168000619 2256622 NA07022_36_chr21_37002609 2.52e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 169456113 2256622 NA19240_36_chr21_37002609 2.52e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 204013940 2256622 BUSHMAN-chr21-37002608 2.52e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 208807590 2256622 BCM_CMT_1011-3263025 2.52e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 228558657 2256622 pilot_1_YRI_10368340_chr21_37002609 2.52e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 237978038 2256622 pilot_1_CEU_7582667_chr21_37002609 2.52e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 244117262 2256622 pilot_1_CHB+JPT_6002339_chr21_37002609 2.52e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 255945735 2256622 SNP32828_21_37002609 2.52e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 283537646 2256622 GMI_AK_SNP_7858067 2.52e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38080739C>G;NG_029519.1:g.13749C>G;NM_005069.3:c.176-729C>G;NM_009586.2:c.176-729C>G 292708614 2256622 SNP_2214972_chr21_37002609 2.52e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080754A>G;NG_029519.1:g.13764A>G;NM_005069.3:c.176-714A>G;NM_009586.2:c.176-714A>G 212084202 114306105 YRI.trio.3.2010_1500824_chr21_37002624 2.70e-03 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38080754A>G;NG_029519.1:g.13764A>G;NM_005069.3:c.176-714A>G;NM_009586.2:c.176-714A>G 228558658 114306105 pilot_1_YRI_10368341_chr21_37002624 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38080779C>G;NG_029519.1:g.13789C>G;NM_005069.3:c.176-689C>G;NM_009586.2:c.176-689C>G 10990412 7282502 chr21.NT_011512.8_23741174 2.38e-02 2003.07.01 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080779C>G;NG_029519.1:g.13789C>G;NM_005069.3:c.176-689C>G;NM_009586.2:c.176-689C>G 228558659 7282502 pilot_1_YRI_10368342_chr21_37002649 2.38e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38080900G>A;NG_029519.1:g.13910G>A;NM_005069.3:c.176-568G>A;NM_009586.2:c.176-568G>A 466052571 187764422 20101123_snps_12219801_chr21_38080900 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38080973G>A;NG_029519.1:g.13983G>A;NM_005069.3:c.176-495G>A;NM_009586.2:c.176-495G>A 466052572 191881678 20101123_snps_12219802_chr21_38080973 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38081097_38081098insC;NG_029519.1:g.14107_14108insC;NM_005069.3:c.176-371_176-370insC;NM_009586.2:c.176-371_176-370insC 41480340 34447076 hCV33801751 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 CSHL-HAPMAP 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 16914917 11702274 CSHL-HuAA-200402.chr21.NT_011512.9_23741496 4.67e-02 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 44288666 11702274 hCV2484159 4.67e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 112461616 11702274 CEU.trio.12.15.2008_3763626_chr21_37002970 4.67e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 161360955 11702274 ENSSNP1974370 4.67e-02 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 208786679 11702274 BCM_CMT_1011-3242112 4.67e-02 2010.03.20 2010.03.20 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081100C>G;NG_029519.1:g.14110C>G;NM_005069.3:c.176-368C>G;NM_009586.2:c.176-368C>G 237978039 11702274 pilot_1_CEU_7582668_chr21_37002970 4.67e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081140T>C;NG_029519.1:g.14150T>C;NM_005069.3:c.176-328T>C;NM_009586.2:c.176-328T>C 466052573 184113694 20101123_snps_12219803_chr21_38081140 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38081396C>A;NG_029519.1:g.14406C>A;NM_005069.3:c.176-72C>A;NM_009586.2:c.176-72C>A 244117263 80031272 pilot_1_CHB+JPT_6002340_chr21_37003266 3.16e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38081443C>T;NG_029519.1:g.14453C>T;NM_005069.3:c.176-25C>T;NM_009586.2:c.176-25C>T 466052574 189232961 20101123_snps_12219804_chr21_38081443 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 237978040 116988298 pilot_1_CEU_7582669_chr21_37003350 2.61e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 342531765 116988298 ESP2500-chr21-38081480 2.61e-02 2011.03.27 2011.03.27 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 483113631 116988298 HumanOmni2.5-4v1_D_kgp3125018-0_B_F_1819944853 2.61e-02 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 484267480 116988298 HumanOmni2.5-4v1_B_SNP21-37003350-0_B_F_1641297663 2.61e-02 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 491184245 116988298 20110521_exome_692043_chr21_38081480 2.61e-02 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 491565612 116988298 nonsyn_281838_chr_21_38081480 2.61e-02 2012.03.06 2012.03.06 2010.07.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38081480C>T;NG_029519.1:g.14490C>T;NM_005069.3:c.188C>T;NM_009586.2:c.188C>T;NP_005060.1:p.Ala63Val;NP_033664.2:p.Ala63Val 491815741 116988298 SNV-chr21-37003350 2.61e-02 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38081486G>A;NG_029519.1:g.14496G>A;NM_005069.3:c.194G>A;NM_009586.2:c.194G>A;NP_005060.1:p.Gly65Glu;NP_033664.2:p.Gly65Glu 342531766 141551574 ESP2500-chr21-38081486 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38081500G>A;NG_029519.1:g.14510G>A;NM_005069.3:c.208G>A;NM_009586.2:c.208G>A;NP_005060.1:p.Ala70Thr;NP_033664.2:p.Ala70Thr 342531767 146997732 ESP2500-chr21-38081500 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38081500G>A;NG_029519.1:g.14510G>A;NM_005069.3:c.208G>A;NM_009586.2:c.208G>A;NP_005060.1:p.Ala70Thr;NP_033664.2:p.Ala70Thr 491565613 146997732 nonsyn_281839_chr_21_38081500 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38081500G>A;NG_029519.1:g.14510G>A;NM_005069.3:c.208G>A;NM_009586.2:c.208G>A;NP_005060.1:p.Ala70Thr;NP_033664.2:p.Ala70Thr 491815742 146997732 SNV-chr21-37003370 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38081506C>A;NG_029519.1:g.14516C>A;NM_005069.3:c.214C>A;NM_009586.2:c.214C>A;NP_005060.1:p.Pro72Thr;NP_033664.2:p.Pro72Thr 342531768 147646943 ESP2500-chr21-38081506 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38081519T>A;NG_029519.1:g.14529T>A;NM_005069.3:c.227T>A;NM_009586.2:c.227T>A;NP_005060.1:p.Val76Asp;NP_033664.2:p.Val76Asp 342531769 142133183 ESP2500-chr21-38081519 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 YUSUKE 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 2983952 2070647 IMS-JST005576 2.49e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 3185779 2070647 SNP000571363 2.49e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 4040780 2070647 D85922.1_21073 2.49e-01 2001.09.26 2003.10.10 2001.06.15 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 12501149 2070647 chr21.NT_011512.8_23741957 2.49e-01 2003.07.04 2003.10.10 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 16916190 2070647 CSHL-HuAA-200402.chr21.NT_011512.9_23741958 2.49e-01 2004.02.18 2004.03.04 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 17712739 2070647 CSHL-HuCC-200402.chr21.NT_011512.9_23741958 2.49e-01 2004.02.19 2004.03.04 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 44277486 2070647 hCV2484160 2.49e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 77722117 2070647 Cor12156_SNV_20070510.chr21_37003432 2.49e-01 2007.10.14 2007.10.14 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 84816144 2070647 Cor19240_SNV_20070510.chr21_37003432 2.49e-01 2007.12.08 2007.12.08 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 86004222 2070647 Cor18517_SNV_20070510.chr21_37003432 2.49e-01 2007.12.10 2007.12.10 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 91834636 2070647 JWB-1494552 2.49e-01 2008.03.02 2008.03.02 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 161360958 2070647 ENSSNP1974371 2.49e-01 2009.09.24 2009.09.24 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 168000632 2070647 NA07022_36_chr21_37003432 2.49e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 169456129 2070647 NA19240_36_chr21_37003432 2.49e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 204013941 2070647 BUSHMAN-chr21-37003431 2.49e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 228558660 2070647 pilot_1_YRI_10368343_chr21_37003432 2.49e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 237978041 2070647 pilot_1_CEU_7582670_chr21_37003432 2.49e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 244117264 2070647 pilot_1_CHB+JPT_6002341_chr21_37003432 2.49e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 255945743 2070647 SNP32829_21_37003432 2.49e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 292708615 2070647 SNP_2214973_chr21_37003432 2.49e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081562T>G;NG_029519.1:g.14572T>G;NM_005069.3:c.258+12T>G;NM_009586.2:c.258+12T>G 491184246 2070647 20110521_exome_692044_chr21_38081562 2.49e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38081569G>A;NG_029519.1:g.14579G>A;NM_005069.3:c.258+19G>A;NM_009586.2:c.258+19G>A 204013942 111749231 BUSHMAN-chr21-37003438 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 2983953 2070648 IMS-JST005577 2.85e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 3185780 2070648 SNP000571364 2.85e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 4035520 2070648 AP001726.1_267006 2.85e-01 2001.09.26 2003.10.10 2001.06.15 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 12518023 2070648 chr21.NT_011512.8_23741972 2.85e-01 2003.07.04 2003.10.10 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 16915453 2070648 CSHL-HuAA-200402.chr21.NT_011512.9_23741973 2.85e-01 2004.02.18 2004.03.04 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 17712069 2070648 CSHL-HuCC-200402.chr21.NT_011512.9_23741973 2.85e-01 2004.02.19 2004.03.04 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 41455751 2070648 hCV2484161 2.85e-01 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 84288397 2070648 Cor19240_SNV_20070510.chr21_37003447 2.85e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 85759541 2070648 Cor18517_SNV_20070510.chr21_37003447 2.85e-01 2007.12.10 2007.12.10 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 91834638 2070648 JWB-1494553 2.85e-01 2008.03.02 2008.03.02 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 103822031 2070648 BGI_rs2070648 2.85e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 161360960 2070648 ENSSNP1974372 2.85e-01 2009.09.24 2009.09.24 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 168000645 2070648 NA07022_36_chr21_37003447 2.85e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 169456147 2070648 NA19240_36_chr21_37003447 2.85e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 204013943 2070648 BUSHMAN-chr21-37003446 2.85e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 228558661 2070648 pilot_1_YRI_10368344_chr21_37003447 2.85e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 237978042 2070648 pilot_1_CEU_7582671_chr21_37003447 2.85e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 244117265 2070648 pilot_1_CHB+JPT_6002342_chr21_37003447 2.85e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 283537647 2070648 GMI_AK_SNP_7858068 2.85e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 292708616 2070648 SNP_2214974_chr21_37003447 2.85e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081577C>G;NG_029519.1:g.14587C>G;NM_005069.3:c.258+27C>G;NM_009586.2:c.258+27C>G 491184247 2070648 20110521_exome_692045_chr21_38081577 2.85e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38081630C>T;NG_029519.1:g.14640C>T;NM_005069.3:c.258+80C>T;NM_009586.2:c.258+80C>T 85607772 59447654 Cor19129_SNV_20070510.chr21_37003500 2007.12.09 2007.12.09 2007.12.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38081740C>T;NG_029519.1:g.14750C>T;NM_005069.3:c.258+190C>T;NM_009586.2:c.258+190C>T 466052575 181591304 20101123_snps_12219805_chr21_38081740 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38081898G>A;NG_029519.1:g.14908G>A;NM_005069.3:c.258+348G>A;NM_009586.2:c.258+348G>A 228558662 116836577 pilot_1_YRI_10368345_chr21_37003768 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 HGSV 6493 NC_000021.8:g.38081948C>A;NG_029519.1:g.14958C>A;NM_005069.3:c.258+398C>A;NM_009586.2:c.258+398C>A 77763966 56014036 Cor12156_SNV_20070510.chr21_37003818 5.00e-04 2007.10.14 2007.10.14 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081948C>A;NG_029519.1:g.14958C>A;NM_005069.3:c.258+398C>A;NM_009586.2:c.258+398C>A 466052576 56014036 20101123_snps_12219806_chr21_38081948 5.00e-04 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38081966G>A;NG_029519.1:g.14976G>A;NM_005069.3:c.258+416G>A;NM_009586.2:c.258+416G>A 228558663 77551941 pilot_1_YRI_10368346_chr21_37003836 2.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38081966G>A;NG_029519.1:g.14976G>A;NM_005069.3:c.258+416G>A;NM_009586.2:c.258+416G>A 480249091 77551941 HumanOmni2.5-4v1_D_kgp13114420-0_B_R_1825820575 2.70e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38081966G>A;NG_029519.1:g.14976G>A;NM_005069.3:c.258+416G>A;NM_009586.2:c.258+416G>A 484267482 77551941 HumanOmni2.5-4v1_B_SNP21-37003836-0_B_R_1630125132 2.70e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082005A>G;NG_029519.1:g.15015A>G;NM_005069.3:c.258+455A>G;NM_009586.2:c.258+455A>G 466052577 190444478 20101123_snps_12219807_chr21_38082005 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38082039T>C;NG_029519.1:g.15049T>C;NM_005069.3:c.258+489T>C;NM_009586.2:c.258+489T>C 466052578 182272299 20101123_snps_12219808_chr21_38082039 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6493 NC_000021.8:g.38082067T>C;NG_029519.1:g.15077T>C;NM_005069.3:c.258+517T>C;NM_009586.2:c.258+517T>C 4029236 2845802 AP000697.1_83189 2.34e-02 2001.09.26 2006.10.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38082067T>C;NG_029519.1:g.15077T>C;NM_005069.3:c.258+517T>C;NM_009586.2:c.258+517T>C 168000657 2845802 NA07022_36_chr21_37003937 2.34e-02 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38082067T>C;NG_029519.1:g.15077T>C;NM_005069.3:c.258+517T>C;NM_009586.2:c.258+517T>C 204013944 2845802 BUSHMAN-chr21-37003936 2.34e-02 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082067T>C;NG_029519.1:g.15077T>C;NM_005069.3:c.258+517T>C;NM_009586.2:c.258+517T>C 228558664 2845802 pilot_1_YRI_10368347_chr21_37003937 2.34e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082067T>C;NG_029519.1:g.15077T>C;NM_005069.3:c.258+517T>C;NM_009586.2:c.258+517T>C 237978044 2845802 pilot_1_CEU_7582673_chr21_37003937 2.34e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38082134T>G;NG_029519.1:g.15144T>G;NM_005069.3:c.258+584T>G;NM_009586.2:c.258+584T>G 4040781 2854041 D85922.1_21643 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38082192G>T;NG_029519.1:g.15202G>T;NM_005069.3:c.258+642G>T;NM_009586.2:c.258+642G>T 4040782 2854042 D85922.1_21703 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38082268G>A;NG_029519.1:g.15278G>A;NM_005069.3:c.258+718G>A;NM_009586.2:c.258+718G>A 113876974 73387531 NA19240_2008_12_16_3401847_chr21_37004138 4.08e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38082268G>A;NG_029519.1:g.15278G>A;NM_005069.3:c.258+718G>A;NM_009586.2:c.258+718G>A 169456162 73387531 NA19240_36_chr21_37004138 4.08e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082268G>A;NG_029519.1:g.15278G>A;NM_005069.3:c.258+718G>A;NM_009586.2:c.258+718G>A 341012500 73387531 20100804_snps_12656041_chr21_38082268 4.08e-02 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082446G>A;NG_029519.1:g.15456G>A;NM_005069.3:c.258+896G>A;NM_009586.2:c.258+896G>A 466052579 186064668 20101123_snps_12219809_chr21_38082446 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38082702C>A;NG_029519.1:g.15712C>A;NM_005069.3:c.258+1152C>A;NM_009586.2:c.258+1152C>A 228558665 76622896 pilot_1_YRI_10368348_chr21_37004572 1.33e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 13819950 9977521 chr21.NT_011512.9_23743208 4.48e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 20133176 9977521 CSHL-HuFF-200402.chr21.NT_011512.9_23743208 4.48e-01 2004.02.22 2004.03.04 2003.12.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 44247614 9977521 hCV2990374 4.48e-01 2005.07.18 2006.11.03 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 68072804 9977521 HumanHap650Yv1.0_rs9977521 4.48e-01 2006.11.15 2006.11.15 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 71637677 9977521 HumanHap650Yv3.0_rs9977521 4.48e-01 2007.04.23 2007.04.23 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 75335608 9977521 ILMN_Human_1M_rs9977521 4.48e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 77246880 9977521 Cor12156_SNV_20070510.chr21_37004682 4.48e-01 2007.10.10 2007.10.12 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 91834639 9977521 JWB-1494554 4.48e-01 2008.03.02 2008.03.02 2003.12.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 103822033 9977521 BGI_rs9977521 4.48e-01 2008.06.07 2009.06.18 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 112461620 9977521 CEU.trio.12.15.2008_3763627_chr21_37004682 4.48e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 113876976 9977521 NA19240_2008_12_16_3401848_chr21_37004682 4.48e-01 2008.12.18 2008.12.18 2003.12.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 117520744 9977521 NA18507_000036523_NCBI36.1_chr21_37004682 4.48e-01 2009.01.19 2009.01.19 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 119609192 9977521 KHS1771439 4.48e-01 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 161030477 9977521 HumanOmni1-Quad_v1-0_B_rs9977521-128_T_R_1502399404 4.48e-01 2009.08.07 2009.10.05 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 161360961 9977521 ENSSNP1974373 4.48e-01 2009.09.24 2010.03.07 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 168000670 9977521 NA07022_36_chr21_37004682 4.48e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 169456178 9977521 NA19240_36_chr21_37004682 4.48e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 172013880 9977521 NA20431_36_chr21_37004682 4.48e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 174940836 9977521 Human1M-Duov3_B_rs9977521-128_T_R_1502399404 4.48e-01 2009.10.05 2009.10.05 2003.12.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 204013945 9977521 BUSHMAN-chr21-37004681 4.48e-01 2010.03.10 2010.03.10 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 228558666 9977521 pilot_1_YRI_10368349_chr21_37004682 4.48e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 237978045 9977521 pilot_1_CEU_7582674_chr21_37004682 4.48e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 244117266 9977521 pilot_1_CHB+JPT_6002343_chr21_37004682 4.48e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 255945745 9977521 SNP32830_21_37004682 4.48e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 283537648 9977521 GMI_AK_SNP_7858069 4.48e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 292708617 9977521 SNP_2214975_chr21_37004682 4.48e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 482036272 9977521 HumanOmni2.5-4v1_B_rs9977521-128_T_R_1772662828 4.48e-01 2012.02.01 2012.02.01 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 482070750 9977521 HumanOmniExpress-12v1_C_rs9977521-131_T_R_1857760053 4.48e-01 2012.02.01 2012.02.01 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 483019465 9977521 HumanOmni1-Quad_v1-0_C_rs9977521-131_T_R_1865755988 4.48e-01 2012.02.02 2012.02.02 2003.12.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38082812C>T;NG_029519.1:g.15822C>T;NM_005069.3:c.258+1262C>T;NM_009586.2:c.258+1262C>T 485811627 9977521 HumanOmni2.5-4v1_D_rs9977521-131_T_R_1857760053 4.48e-01 2012.02.05 2012.02.05 2003.12.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 193633782 111379021 BUSHMAN-chr21-37004775-37004775 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 BL 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 256199741 111379021 SNP2560_21_37004775 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 288549447 111379021 GMI_NA10851_INDEL_308456 2010.12.22 2010.12.22 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 289434409 111379021 GMI_AK_INDEL_1111889 2010.12.30 2011.12.30 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 327986061 111379021 JPTCHB_chr21_37004775_indel 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 328091388 111379021 CEU_chr21_37004775_indel 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082903_38082904insA;NG_029519.1:g.15913_15914insA;NM_005069.3:c.258+1353_258+1354insA;NM_009586.2:c.258+1353_258+1354insA 328316689 111379021 YRI_chr21_37004775_indel 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 41463278 34046759 hCV26794122 3.80e-02 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 HGSV 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 77839791 34046759 Cor12156_DIV_20070510.chr21_37004783-37004784_1 3.80e-02 2007.10.15 2007.10.15 2006.03.13 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 101975206 34046759 INDEL_GP36_2008a_2728052_0 3.80e-02 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 101975209 34046759 INDEL_GP36_2008a_2728052_1 3.80e-02 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 PJP 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 295067583 34046759 DIP_505287_chr21_37004777 3.80e-02 2011.01.23 2011.01.23 2006.03.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082906_38082907insA;NC_000021.8:g.38082906_38082907insAT;NG_029519.1:g.15916_15917insA;NG_029519.1:g.15916_15917insAT;NM_005069.3:c.258+1356_258+1357insA;NM_005069.3:c.258+1356_258+1357insAT;NM_009586.2:c.258+1356_258+1357insA;NM_009586.2:c.258+1356_258+1357insAT 499804895 34046759 20110316_indels_chr21_38082906_38082907 3.80e-02 2012.03.20 2012.03.20 2006.03.13 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 23802447 16994399 afd0075565 2.15e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 AFFY 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 66371617 16994399 SNP_A-2018904 2.15e-02 2006.10.29 2008.03.31 2004.09.20 2012.11.28 137 AFFY 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 76098401 16994399 AFFY_6_1M_SNP_A-2018904 2.15e-02 2007.08.30 2007.08.30 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 83141062 16994399 KHS403633 2.15e-02 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 AFFY 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 172498323 16994399 GenomeWideSNP_5_SNP_A-2018904 2.15e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38082939A>G;NG_029519.1:g.15949A>G;NM_005069.3:c.258+1389A>G;NM_009586.2:c.258+1389A>G 228558669 16994399 pilot_1_YRI_10368352_chr21_37004809 2.15e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 3203183 2243395 IMS-JST023267 2.49e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 3376104 2243395 TSC1651317 2.49e-01 2001.09.20 2006.10.25 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 4015104 2243395 P00222536 2.49e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 4035521 2243395 AP001726.1_268548 2.49e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 10973902 2243395 chr21.NT_011512.8_23743514 2.49e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 14436923 2243395 chr21.NT_011512.9_23743515 2.49e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 24712375 2243395 afd0075566 2.49e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 44259258 2243395 hCV16106278 2.49e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 67237199 2243395 HumanHap550v1.1_rs2243395 2.49e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 67633469 2243395 HumanHap650Yv1.0_rs2243395 2.49e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 68200068 2243395 HumanHap250Sv1.0_rs2243395 2.49e-01 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 69253505 2243395 PGP00075566 2.49e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 70715525 2243395 HumanHap550v3.0__rs2243395 2.49e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 71283378 2243395 HumanHap650Yv3.0_rs2243395 2.49e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 75476407 2243395 ILMN_Human_1M_rs2243395 2.49e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 77131628 2243395 Cor12156_SNV_20070510.chr21_37004989 2.49e-01 2007.10.09 2007.10.11 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 81657980 2243395 Cor19240_SNV_20070510.chr21_37004989 2.49e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 84006804 2243395 KHS599751 2.49e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 91834642 2243395 JWB-1494555 2.49e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 103822035 2243395 BGI_rs2243395 2.49e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 113876987 2243395 NA19240_2008_12_16_3401849_chr21_37004989 2.49e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 117520747 2243395 NA18507_000036524_NCBI36.1_chr21_37004989 2.49e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 138314863 2243395 ENSSNP11885097 2.49e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 153892854 2243395 Human610_Quadv1_B_rs2243395-126_T_F_1502186087 2.49e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 159371852 2243395 Human660W-Quad_v1_A_rs2243395-126_T_F_1502186087 2.49e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 160520761 2243395 HumanOmni1-Quad_v1-0_B_rs2243395-126_T_F_1501473188 2.49e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 168000679 2243395 NA07022_36_chr21_37004989 2.49e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 169456193 2243395 NA19240_36_chr21_37004989 2.49e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 173210075 2243395 Human1M-Duov3_B_rs2243395-126_T_F_1502186087 2.49e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 204013946 2243395 BUSHMAN-chr21-37004988 2.49e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 208804250 2243395 BCM_CMT_1011-3259683 2.49e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 210968740 2243395 CEU.trio.3.2010_169826_chr21_37004989 2.49e-01 2010.03.29 2010.03.29 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 228558670 2243395 pilot_1_YRI_10368353_chr21_37004989 2.49e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 237978046 2243395 pilot_1_CEU_7582675_chr21_37004989 2.49e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 244117267 2243395 pilot_1_CHB+JPT_6002344_chr21_37004989 2.49e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 255945754 2243395 SNP32831_21_37004989 2.49e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 283537649 2243395 GMI_AK_SNP_7858070 2.49e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 292708618 2243395 SNP_2214976_chr21_37004989 2.49e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 480482204 2243395 HumanOmni2.5-4v1_B_rs2243395-128_T_F_1782951218 2.49e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 480496572 2243395 HumanOmniExpress-12v1_C_rs2243395-131_T_F_1857166825 2.49e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 481297362 2243395 HumanOmni1-Quad_v1-0_C_rs2243395-131_T_F_1865517055 2.49e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083119A>G;NG_029519.1:g.16129A>G;NM_005069.3:c.258+1569A>G;NM_009586.2:c.258+1569A>G 485038591 2243395 HumanOmni2.5-4v1_D_rs2243395-131_T_F_1857166825 2.49e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083234A>C;NG_029519.1:g.16244A>C;NM_005069.3:c.259-1599A>C;NM_009586.2:c.259-1599A>C 466052580 189653686 20101123_snps_12219810_chr21_38083234 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6493 NC_000021.8:g.38083242G>A;NG_029519.1:g.16252G>A;NM_005069.3:c.259-1591G>A;NM_009586.2:c.259-1591G>A 6651728 4817816 NT_011512.7_23743678 7.80e-03 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083242G>A;NG_029519.1:g.16252G>A;NM_005069.3:c.259-1591G>A;NM_009586.2:c.259-1591G>A 466052581 4817816 20101123_snps_12219811_chr21_38083242 7.80e-03 2011.07.20 2011.07.20 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083445A>G;NG_029519.1:g.16455A>G;NM_005069.3:c.259-1388A>G;NM_009586.2:c.259-1388A>G 341012501 150785156 20100804_snps_12656042_chr21_38083445 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38083473A>T;NG_029519.1:g.16483A>T;NM_005069.3:c.259-1360A>T;NM_009586.2:c.259-1360A>T 283537650 201214633 GMI_AK_SNP_7858071 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 TSC-CSHL 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 1366956 928842 TSC0245912 2.49e-01 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 3203184 928842 IMS-JST023268 2.49e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 4015105 928842 P00222538 2.49e-01 2001.09.26 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 4035522 928842 AP001726.1_268978 2.49e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 5481761 928842 TSC0922487 2.49e-01 2002.09.21 2004.05.16 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 5765682 928842 NT_011512.6_23660953 2.49e-01 2003.01.11 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 10975550 928842 chr21.NT_011512.8_23743944 2.49e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 12501355 928842 chr21.NT_011512.8_23743944 2.49e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 14437711 928842 chr21.NT_011512.9_23743945 2.49e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 24712376 928842 afd0075570 2.49e-01 2004.08.21 2004.09.13 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 44262148 928842 hCV9527096 2.49e-01 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 80969237 928842 Cor18507_SNV_20070510.chr21_37005419 2.49e-01 2007.11.27 2007.11.27 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 85864600 928842 Cor19129_SNV_20070510.chr21_37005419 2.49e-01 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 91834644 928842 JWB-1494556 2.49e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 103822036 928842 BGI_rs928842 2.49e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 112461624 928842 CEU.trio.12.15.2008_3763628_chr21_37005419 2.49e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 113876993 928842 NA19240_2008_12_16_3401850_chr21_37005419 2.49e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 117520749 928842 NA18507_000036525_NCBI36.1_chr21_37005419 2.49e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 138314864 928842 ENSSNP11885098 2.49e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 169456209 928842 NA19240_36_chr21_37005419 2.49e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 172013888 928842 NA20431_36_chr21_37005419 2.49e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 204013947 928842 BUSHMAN-chr21-37005418 2.49e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 208796090 928842 BCM_CMT_1011-3251523 2.49e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 228558671 928842 pilot_1_YRI_10368354_chr21_37005419 2.49e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 237978047 928842 pilot_1_CEU_7582676_chr21_37005419 2.49e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 244117268 928842 pilot_1_CHB+JPT_6002345_chr21_37005419 2.49e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 255945758 928842 SNP32832_21_37005419 2.49e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 283537651 928842 GMI_AK_SNP_7858072 2.49e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38083549C>T;NG_029519.1:g.16559C>T;NM_005069.3:c.259-1284C>T;NM_009586.2:c.259-1284C>T 292708619 928842 SNP_2214977_chr21_37005419 2.49e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 1366957 928843 TSC0245913 2.49e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 3203185 928843 IMS-JST023269 2.49e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 4035523 928843 AP001726.1_269004 2.49e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 5481762 928843 TSC0922488 2.49e-01 2002.09.21 2004.05.16 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 5727649 928843 NT_011512.6_23660979 2.49e-01 2003.01.11 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 10975575 928843 chr21.NT_011512.8_23743970 2.49e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 12501381 928843 chr21.NT_011512.8_23743970 2.49e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 14437728 928843 chr21.NT_011512.9_23743971 2.49e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 44285903 928843 hCV9527097 2.49e-01 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 79907348 928843 Cor18507_SNV_20070510.chr21_37005445 2.49e-01 2007.11.24 2007.11.24 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 85403857 928843 Cor19129_SNV_20070510.chr21_37005445 2.49e-01 2007.12.09 2007.12.09 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 85528932 928843 Cor18517_SNV_20070510.chr21_37005445 2.49e-01 2007.12.09 2007.12.09 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 91834646 928843 JWB-1494557 2.49e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 103822038 928843 BGI_rs928843 2.49e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 112461628 928843 CEU.trio.12.15.2008_3763629_chr21_37005445 2.49e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 113877000 928843 NA19240_2008_12_16_3401851_chr21_37005445 2.49e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 117520751 928843 NA18507_000036526_NCBI36.1_chr21_37005445 2.49e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 138314865 928843 ENSSNP6105666 2.49e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 168000694 928843 NA07022_36_chr21_37005445 2.49e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 169456225 928843 NA19240_36_chr21_37005445 2.49e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 204013948 928843 BUSHMAN-chr21-37005444 2.49e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 208793496 928843 BCM_CMT_1011-3248929 2.49e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 228558672 928843 pilot_1_YRI_10368355_chr21_37005445 2.49e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 237978048 928843 pilot_1_CEU_7582677_chr21_37005445 2.49e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 244117269 928843 pilot_1_CHB+JPT_6002346_chr21_37005445 2.49e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 255945764 928843 SNP32833_21_37005445 2.49e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 283537652 928843 GMI_AK_SNP_7858073 2.49e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38083575C>T;NG_029519.1:g.16585C>T;NM_005069.3:c.259-1258C>T;NM_009586.2:c.259-1258C>T 292708620 928843 SNP_2214978_chr21_37005445 2.49e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083587G>A;NG_029519.1:g.16597G>A;NM_005069.3:c.259-1246G>A;NM_009586.2:c.259-1246G>A 341012502 139463144 20100804_snps_12656043_chr21_38083587 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38083637A>G;NG_029519.1:g.16647A>G;NM_005069.3:c.259-1196A>G;NM_009586.2:c.259-1196A>G 341012503 145067496 20100804_snps_12656044_chr21_38083637 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38083661T>C;NG_029519.1:g.16671T>C;NM_005069.3:c.259-1172T>C;NM_009586.2:c.259-1172T>C 341012504 147562283 20100804_snps_12656045_chr21_38083661 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38083708A>T;NG_029519.1:g.16718A>T;NM_005069.3:c.259-1125A>T;NM_009586.2:c.259-1125A>T 341012505 140431238 20100804_snps_12656046_chr21_38083708 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 10984881 6517377 chr21.NT_011512.8_23744134 2.66e-02 2003.07.01 2006.10.25 2003.07.11 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 12510133 6517377 chr21.NT_011512.8_23744134 2.66e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 23802448 6517377 afd0075573 2.66e-02 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 160782644 6517377 HumanOmni1-Quad_v1-0_B_rs6517377-128_T_F_1569349700 2.66e-02 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 228558673 6517377 pilot_1_YRI_10368356_chr21_37005609 2.66e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 481269687 6517377 HumanOmni2.5-4v1_B_rs6517377-128_T_F_1778467835 2.66e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 481294094 6517377 HumanOmniExpress-12v1_C_rs6517377-131_T_F_1858063275 2.66e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 482277778 6517377 HumanOmni1-Quad_v1-0_C_rs6517377-131_T_F_1865674749 2.66e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38083739G>A;NG_029519.1:g.16749G>A;NM_005069.3:c.259-1094G>A;NM_009586.2:c.259-1094G>A 485430115 6517377 HumanOmni2.5-4v1_D_rs6517377-131_T_F_1858063275 2.66e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38083860G>A;NG_029519.1:g.16870G>A;NM_005069.3:c.259-973G>A;NM_009586.2:c.259-973G>A 341012506 149689316 20100804_snps_12656047_chr21_38083860 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38083928G>C;NG_029519.1:g.16938G>C;NM_005069.3:c.259-905G>C;NM_009586.2:c.259-905G>C 341012507 145362584 20100804_snps_12656048_chr21_38083928 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38084076C>G;NG_029519.1:g.17086C>G;NM_005069.3:c.259-757C>G;NM_009586.2:c.259-757C>G 283537653 201085534 GMI_AK_SNP_7858074 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 TSC-CSHL 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 1508057 1041436 TSC0348362 2.48e-01 2000.09.07 2004.04.07 2000.10.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 4015106 1041436 P00222540 2.48e-01 2001.09.26 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 4040783 1041436 D85922.1_23779 2.48e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 6651729 1041436 NT_011512.7_23744703 2.48e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 13444800 1041436 NT_011512.8_23744662 2.48e-01 2003.10.23 2003.10.31 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 16913977 1041436 CSHL-HuAA-200402.chr21.NT_011512.9_23744663 2.48e-01 2004.02.18 2004.03.04 2000.10.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 24712377 1041436 afd0075577 2.48e-01 2004.08.21 2004.09.13 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 44253057 1041436 hCV2990376 2.48e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 82494640 1041436 Cor18555_SNV_20070510.chr21_37006137 2.48e-01 2007.12.02 2007.12.02 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 91834649 1041436 JWB-1494558 2.48e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 103822040 1041436 BGI_rs1041436 2.48e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 112461632 1041436 CEU.trio.12.15.2008_3763630_chr21_37006137 2.48e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 117520753 1041436 NA18507_000036527_NCBI36.1_chr21_37006137 2.48e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 161360964 1041436 ENSSNP1974374 2.48e-01 2009.09.24 2009.09.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 168000705 1041436 NA07022_36_chr21_37006137 2.48e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 169456241 1041436 NA19240_36_chr21_37006137 2.48e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 172013896 1041436 NA20431_36_chr21_37006137 2.48e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 204013949 1041436 BUSHMAN-chr21-37006136 2.48e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 208806143 1041436 BCM_CMT_1011-3261578 2.48e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 212084204 1041436 YRI.trio.3.2010_1500825_chr21_37006137 2.48e-01 2010.03.31 2010.03.31 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 228558674 1041436 pilot_1_YRI_10368357_chr21_37006137 2.48e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 237978049 1041436 pilot_1_CEU_7582678_chr21_37006137 2.48e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 244117270 1041436 pilot_1_CHB+JPT_6002347_chr21_37006137 2.48e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 255945769 1041436 SNP32834_21_37006137 2.48e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 283537654 1041436 GMI_AK_SNP_7858075 2.48e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38084267T>A;NG_029519.1:g.17277T>A;NM_005069.3:c.259-566T>A;NM_009586.2:c.259-566T>A 292708621 1041436 SNP_2214979_chr21_37006137 2.48e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38084329C>T;NG_029519.1:g.17339C>T;NM_005069.3:c.259-504C>T;NM_009586.2:c.259-504C>T 78788196 56053662 Cor18507_SNV_20070510.chr21_37006199 2007.10.20 2007.10.20 2007.12.07 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38084529A>T;NG_029519.1:g.17539A>T;NM_005069.3:c.259-304A>T;NM_009586.2:c.259-304A>T 466052582 185449147 20101123_snps_12219812_chr21_38084529 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38084539C>A;NG_029519.1:g.17549C>A;NM_005069.3:c.259-294C>A;NM_009586.2:c.259-294C>A 466052583 189915677 20101123_snps_12219813_chr21_38084539 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38084757C>A;NG_029519.1:g.17767C>A;NM_005069.3:c.259-76C>A;NM_009586.2:c.259-76C>A 237978050 117597215 pilot_1_CEU_7582679_chr21_37006627 1.80e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38084765G>C;NG_029519.1:g.17775G>C;NM_005069.3:c.259-68G>C;NM_009586.2:c.259-68G>C 204013950 113460859 BUSHMAN-chr21-37006634 1.56e-02 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084765G>C;NG_029519.1:g.17775G>C;NM_005069.3:c.259-68G>C;NM_009586.2:c.259-68G>C 228558675 113460859 pilot_1_YRI_10368358_chr21_37006635 1.56e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 4015107 2835443 P00222541 7.23e-02 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 10976005 2835443 chr21.NT_011512.8_23745168 7.23e-02 2003.07.01 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 12501788 2835443 chr21.NT_011512.8_23745168 7.23e-02 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 23802449 2835443 afd0075583 7.23e-02 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 66543652 2835443 HumanHap300v1.1_rs2835443 7.23e-02 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 67277458 2835443 HumanHap550v1.1_rs2835443 7.23e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 67679109 2835443 HumanHap650Yv1.0_rs2835443 7.23e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 69253506 2835443 PGP00075583 7.23e-02 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 70755968 2835443 HumanHap550v3.0__rs2835443 7.23e-02 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 71329171 2835443 HumanHap650Yv3.0_rs2835443 7.23e-02 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 75584575 2835443 ILMN_Human_1M_rs2835443 7.23e-02 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 76479518 2835443 AFFY_6_1M_SNP_A-8340602 7.23e-02 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 79149935 2835443 HumanHap300v2.0_rs2835443 7.23e-02 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 84100640 2835443 KHS635172 7.23e-02 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 112461636 2835443 CEU.trio.12.15.2008_3763631_chr21_37006643 7.23e-02 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 122121463 2835443 HumanCNV370v1_C_rs2835443 7.23e-02 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 154238739 2835443 Human610_Quadv1_B_rs2835443-128_T_F_1501743826 7.23e-02 2009.06.20 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 159415130 2835443 Human660W-Quad_v1_A_rs2835443-128_T_F_1501743826 7.23e-02 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 171417751 2835443 HumanCNV370-Quadv3_C_rs2835443-128_T_F_1501743826 7.23e-02 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 173485082 2835443 Human1M-Duov3_B_rs2835443-128_T_F_1501743826 7.23e-02 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 204013951 2835443 BUSHMAN-chr21-37006642 7.23e-02 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 228558676 2835443 pilot_1_YRI_10368359_chr21_37006643 7.23e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084773G>A;NG_029519.1:g.17783G>A;NM_005069.3:c.259-60G>A;NM_009586.2:c.259-60G>A 237978051 2835443 pilot_1_CEU_7582680_chr21_37006643 7.23e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084787T>C;NG_029519.1:g.17797T>C;NM_005069.3:c.259-46T>C;NM_009586.2:c.259-46T>C 489203511 199819482 20110521_exome_275040_chr21_38084787 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084793A>T;NG_029519.1:g.17803A>T;NM_005069.3:c.259-40A>T;NM_009586.2:c.259-40A>T 341012508 149184222 20100804_snps_12656049_chr21_38084793 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084793A>T;NG_029519.1:g.17803A>T;NM_005069.3:c.259-40A>T;NM_009586.2:c.259-40A>T 491184248 149184222 20110521_exome_692046_chr21_38084793 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084889C>T;NG_029519.1:g.17899C>T;NM_005069.3:c.315C>T;NM_009586.2:c.315C>T;NP_005060.1:p.Ser105=;NP_033664.2:p.Ser105= 341012509 143395130 20100804_snps_12656050_chr21_38084889 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084889C>T;NG_029519.1:g.17899C>T;NM_005069.3:c.315C>T;NM_009586.2:c.315C>T;NP_005060.1:p.Ser105=;NP_033664.2:p.Ser105= 491184249 143395130 20110521_exome_692047_chr21_38084889 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38084925G>A;NG_029519.1:g.17935G>A;NM_005069.3:c.348+3G>A;NM_009586.2:c.348+3G>A 491815743 200677535 SNV-chr21-37006795 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084951C>A;NG_029519.1:g.17961C>A;NM_005069.3:c.348+29C>A;NM_009586.2:c.348+29C>A 341012510 146866663 20100804_snps_12656051_chr21_38084951 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084951C>A;NG_029519.1:g.17961C>A;NM_005069.3:c.348+29C>A;NM_009586.2:c.348+29C>A 491184250 146866663 20110521_exome_692048_chr21_38084951 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084963C>T;NG_029519.1:g.17973C>T;NM_005069.3:c.348+41C>T;NM_009586.2:c.348+41C>T 466052584 182911006 20101123_snps_12219814_chr21_38084963 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084963C>T;NG_029519.1:g.17973C>T;NM_005069.3:c.348+41C>T;NM_009586.2:c.348+41C>T 491184251 182911006 20110521_exome_692049_chr21_38084963 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38084981T>C;NG_029519.1:g.17991T>C;NM_005069.3:c.348+59T>C;NM_009586.2:c.348+59T>C 466052585 188532539 20101123_snps_12219815_chr21_38084981 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38085050A>C;NG_029519.1:g.18060A>C;NM_005069.3:c.348+128A>C;NM_009586.2:c.348+128A>C 341012511 140712540 20100804_snps_12656052_chr21_38085050 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38085406C>T;NG_029519.1:g.18416C>T;NM_005069.3:c.348+484C>T;NM_009586.2:c.348+484C>T 341012512 145653311 20100804_snps_12656053_chr21_38085406 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38085418T>C;NG_029519.1:g.18428T>C;NM_005069.3:c.348+496T>C;NM_009586.2:c.348+496T>C 466052586 192040715 20101123_snps_12219816_chr21_38085418 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 2983954 2070649 IMS-JST005578 3.62e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 3185781 2070649 SNP000571365 3.62e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 4015108 2070649 P00222542 3.62e-01 2001.09.26 2004.04.07 2001.06.15 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 4035524 2070649 AP001726.1_270873 3.62e-01 2001.09.26 2006.10.25 2001.06.15 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 14449150 2070649 chr21.NT_011512.9_23745840 3.62e-01 2003.11.07 2003.11.22 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 16917179 2070649 CSHL-HuAA-200402.chr21.NT_011512.9_23745840 3.62e-01 2004.02.18 2004.03.04 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 24219665 2070649 afd0075588 3.62e-01 2004.08.21 2004.09.13 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 44275400 2070649 hCV2990377 3.62e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 66371618 2070649 SNP_A-2018907 3.62e-01 2006.10.29 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 67221950 2070649 HumanHap550v1.1_rs2070649 3.62e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 67616376 2070649 HumanHap650Yv1.0_rs2070649 3.62e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 68195631 2070649 HumanHap250Sv1.0_rs2070649 3.62e-01 2006.12.06 2006.12.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 70700240 2070649 HumanHap550v3.0__rs2070649 3.62e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 71266270 2070649 HumanHap650Yv3.0_rs2070649 3.62e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 75680298 2070649 ILMN_Human_1M_rs2070649 3.62e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 76098400 2070649 AFFY_6_1M_SNP_A-2018907 3.62e-01 2007.08.30 2010.03.07 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 78326888 2070649 Cor12878_SNV_20070510.chr21_37007314 3.62e-01 2007.10.18 2007.10.18 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 83500399 2070649 Cor19240_SNV_20070510.chr21_37007314 3.62e-01 2007.12.05 2007.12.05 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 83964210 2070649 KHS586073 3.62e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 85456053 2070649 Cor18517_SNV_20070510.chr21_37007314 3.62e-01 2007.12.09 2007.12.09 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 91834651 2070649 JWB-1494559 3.62e-01 2008.03.02 2008.03.02 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 103822043 2070649 BGI_rs2070649 3.62e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 112461641 2070649 CEU.trio.12.15.2008_3763632_chr21_37007314 3.62e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 113877009 2070649 NA19240_2008_12_16_3401852_chr21_37007314 3.62e-01 2008.12.18 2008.12.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 117520755 2070649 NA18507_000036528_NCBI36.1_chr21_37007314 3.62e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 138314866 2070649 ENSSNP11885100 3.62e-01 2009.05.17 2009.05.17 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 153843165 2070649 Human610_Quadv1_B_rs2070649-128_T_F_1502181841 3.62e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 159355792 2070649 Human660W-Quad_v1_A_rs2070649-128_T_F_1502181841 3.62e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 160497631 2070649 HumanOmni1-Quad_v1-0_B_rs2070649-128_T_F_1502181841 3.62e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 161360965 2070649 ENSSNP1974375 3.62e-01 2009.09.24 2009.09.24 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 168000721 2070649 NA07022_36_chr21_37007314 3.62e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 169456257 2070649 NA19240_36_chr21_37007314 3.62e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 172013904 2070649 NA20431_36_chr21_37007314 3.62e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 172498319 2070649 GenomeWideSNP_5_SNP_A-2018907 3.62e-01 2009.10.02 2009.10.02 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 173095214 2070649 Human1M-Duov3_B_rs2070649-128_T_F_1502181841 3.62e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 204013952 2070649 BUSHMAN-chr21-37007313 3.62e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 208789615 2070649 BCM_CMT_1011-3245048 3.62e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 228558677 2070649 pilot_1_YRI_10368360_chr21_37007314 3.62e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 237978052 2070649 pilot_1_CEU_7582681_chr21_37007314 3.62e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 244117271 2070649 pilot_1_CHB+JPT_6002348_chr21_37007314 3.62e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 255945777 2070649 SNP32835_21_37007314 3.62e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 283537655 2070649 GMI_AK_SNP_7858076 3.62e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 292708622 2070649 SNP_2214980_chr21_37007314 3.62e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 410918946 2070649 Cardio-Metabo_Chip_11395247_A_rs2070649 3.62e-01 2011.06.07 2011.06.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 480409602 2070649 HumanOmni2.5-4v1_B_rs2070649-128_T_F_1777027814 3.62e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 480422903 2070649 HumanOmniExpress-12v1_C_rs2070649-131_T_F_1857104379 3.62e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 481205187 2070649 HumanOmni1-Quad_v1-0_C_rs2070649-131_T_F_1865640794 3.62e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085444G>A;NG_029519.1:g.18454G>A;NM_005069.3:c.348+522G>A;NM_009586.2:c.348+522G>A 485002339 2070649 HumanOmni2.5-4v1_D_rs2070649-131_T_F_1857104379 3.62e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085483A>G;NG_029519.1:g.18493A>G;NM_005069.3:c.348+561A>G;NM_009586.2:c.348+561A>G 228558678 116527580 pilot_1_YRI_10368361_chr21_37007353 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38085498C>T;NG_029519.1:g.18508C>T;NM_005069.3:c.348+576C>T;NM_009586.2:c.348+576C>T 466052587 183980516 20101123_snps_12219817_chr21_38085498 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38085518G>A;NG_029519.1:g.18528G>A;NM_005069.3:c.348+596G>A;NM_009586.2:c.348+596G>A 228558679 115999554 pilot_1_YRI_10368362_chr21_37007388 1.83e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38085576A>T;NG_029519.1:g.18586A>T;NM_005069.3:c.348+654A>T;NM_009586.2:c.348+654A>T 466052588 187722386 20101123_snps_12219818_chr21_38085576 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 4015109 2245888 P00222543 2.89e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 4029237 2245888 AP000697.1_86864 2.89e-01 2001.09.26 2006.10.25 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 14434526 2245888 chr21.NT_011512.9_23746138 2.89e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 16907988 2245888 CSHL-HuAA-200402.chr21.NT_011512.9_23746138 2.89e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 24219666 2245888 afd0075590 2.89e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 44283932 2245888 hCV2990378 2.89e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 66371619 2245888 SNP_A-2018908 2.89e-01 2006.10.29 2007.08.14 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 76098399 2245888 AFFY_6_1M_SNP_A-2018908 2.89e-01 2007.08.30 2010.03.07 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 78593215 2245888 Cor12878_SNV_20070510.chr21_37007612 2.89e-01 2007.10.20 2007.10.20 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 80418408 2245888 Cor18507_SNV_20070510.chr21_37007612 2.89e-01 2007.11.25 2007.11.25 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 81736649 2245888 KHS132743 2.89e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 84689902 2245888 Cor19240_SNV_20070510.chr21_37007612 2.89e-01 2007.12.07 2007.12.07 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 91834652 2245888 JWB-1494560 2.89e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 103822045 2245888 BGI_rs2245888 2.89e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 112461644 2245888 CEU.trio.12.15.2008_3763633_chr21_37007612 2.89e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 113877016 2245888 NA19240_2008_12_16_3401853_chr21_37007612 2.89e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 117520757 2245888 NA18507_000036529_NCBI36.1_chr21_37007612 2.89e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 138314867 2245888 ENSSNP11885101 2.89e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 160521230 2245888 HumanOmni1-Quad_v1-0_B_rs2245888-128_B_F_1549828506 2.89e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 161360968 2245888 ENSSNP1974376 2.89e-01 2009.09.24 2009.09.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 168000731 2245888 NA07022_36_chr21_37007612 2.89e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 169456273 2245888 NA19240_36_chr21_37007612 2.89e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 172013912 2245888 NA20431_36_chr21_37007612 2.89e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 172498315 2245888 GenomeWideSNP_5_SNP_A-2018908 2.89e-01 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 204013953 2245888 BUSHMAN-chr21-37007611 2.89e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 208790592 2245888 BCM_CMT_1011-3246025 2.89e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 228558680 2245888 pilot_1_YRI_10368363_chr21_37007612 2.89e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 237978053 2245888 pilot_1_CEU_7582682_chr21_37007612 2.89e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 244117272 2245888 pilot_1_CHB+JPT_6002349_chr21_37007612 2.89e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 255945785 2245888 SNP32836_21_37007612 2.89e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 283537656 2245888 GMI_AK_SNP_7858077 2.89e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 292708623 2245888 SNP_2214981_chr21_37007612 2.89e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 480483670 2245888 HumanOmni2.5-4v1_B_rs2245888-128_B_F_1773187765 2.89e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 480498030 2245888 HumanOmniExpress-12v1_C_rs2245888-131_B_F_1857991748 2.89e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 481299223 2245888 HumanOmni1-Quad_v1-0_C_rs2245888-131_B_F_1865336715 2.89e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38085742T>C;NG_029519.1:g.18752T>C;NM_005069.3:c.348+820T>C;NM_009586.2:c.348+820T>C 485039327 2245888 HumanOmni2.5-4v1_D_rs2245888-131_B_F_1857991748 2.89e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38085748A>G;NG_029519.1:g.18758A>G;NM_005069.3:c.348+826A>G;NM_009586.2:c.348+826A>G 466052589 191392595 20101123_snps_12219819_chr21_38085748 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38086044T>G;NG_029519.1:g.19054T>G;NM_005069.3:c.348+1122T>G;NM_009586.2:c.348+1122T>G 466052590 184338766 20101123_snps_12219820_chr21_38086044 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 3203186 2243490 IMS-JST023270 2.93e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 4015110 2243490 P00222544 2.93e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 4035525 2243490 AP001726.1_271700 2.93e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 14434487 2243490 chr21.NT_011512.9_23746667 2.93e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 16907961 2243490 CSHL-HuAA-200402.chr21.NT_011512.9_23746667 2.93e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 24219667 2243490 afd0075595 2.93e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 44241616 2243490 hCV2990379 2.93e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 77224072 2243490 Cor12156_SNV_20070510.chr21_37008141 2.93e-01 2007.10.10 2007.10.12 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 78668334 2243490 Cor18507_SNV_20070510.chr21_37008141 2.93e-01 2007.10.20 2007.10.20 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 82313350 2243490 Cor19240_SNV_20070510.chr21_37008141 2.93e-01 2007.12.02 2007.12.02 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 91834655 2243490 JWB-1494561 2.93e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 103822047 2243490 BGI_rs2243490 2.93e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 112461649 2243490 CEU.trio.12.15.2008_3763634_chr21_37008141 2.93e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 113877026 2243490 NA19240_2008_12_16_3401854_chr21_37008141 2.93e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 117520759 2243490 NA18507_000036530_NCBI36.1_chr21_37008141 2.93e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 138314868 2243490 ENSSNP7341638 2.93e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 161360970 2243490 ENSSNP1974377 2.93e-01 2009.09.24 2009.09.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 168000748 2243490 NA07022_36_chr21_37008141 2.93e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 169456290 2243490 NA19240_36_chr21_37008141 2.93e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 172013920 2243490 NA20431_36_chr21_37008141 2.93e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 204013954 2243490 BUSHMAN-chr21-37008140 2.93e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 208799265 2243490 BCM_CMT_1011-3254698 2.93e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 228558681 2243490 pilot_1_YRI_10368364_chr21_37008141 2.93e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 237978054 2243490 pilot_1_CEU_7582683_chr21_37008141 2.93e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 244117273 2243490 pilot_1_CHB+JPT_6002350_chr21_37008141 2.93e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 255945791 2243490 SNP32837_21_37008141 2.93e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 283537657 2243490 GMI_AK_SNP_7858078 2.93e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38086271G>A;NG_029519.1:g.19281G>A;NM_005069.3:c.348+1349G>A;NM_009586.2:c.348+1349G>A 292708624 2243490 SNP_2214982_chr21_37008141 2.93e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086326A>G;NG_029519.1:g.19336A>G;NM_005069.3:c.348+1404A>G;NM_009586.2:c.348+1404A>G 466052591 187189059 20101123_snps_12219821_chr21_38086326 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38086389A>G;NG_029519.1:g.19399A>G;NM_005069.3:c.348+1467A>G;NM_009586.2:c.348+1467A>G 341012513 138199078 20100804_snps_12656054_chr21_38086389 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38086394C>T;NG_029519.1:g.19404C>T;NM_005069.3:c.348+1472C>T;NM_009586.2:c.348+1472C>T 228558682 115527079 pilot_1_YRI_10368365_chr21_37008264 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38086395G>A;NG_029519.1:g.19405G>A;NM_005069.3:c.348+1473G>A;NM_009586.2:c.348+1473G>A 341012514 141900074 20100804_snps_12656055_chr21_38086395 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38086578A>G;NG_029519.1:g.19588A>G;NM_005069.3:c.348+1656A>G;NM_009586.2:c.348+1656A>G 341012515 150211274 20100804_snps_12656056_chr21_38086578 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38086588T>C;NG_029519.1:g.19598T>C;NM_005069.3:c.348+1666T>C;NM_009586.2:c.348+1666T>C 466052592 191647721 20101123_snps_12219822_chr21_38086588 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6493 NC_000021.8:g.38086792T>C;NG_029519.1:g.19802T>C;NM_005069.3:c.348+1870T>C;NM_009586.2:c.348+1870T>C 78941047 55893727 Cor18507_SNV_20070510.chr21_37008662 1.01e-02 2007.10.21 2007.10.21 2007.12.06 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38086792T>C;NG_029519.1:g.19802T>C;NM_005069.3:c.348+1870T>C;NM_009586.2:c.348+1870T>C 117520761 55893727 NA18507_000036531_NCBI36.1_chr21_37008662 1.01e-02 2009.01.19 2009.01.19 2007.12.06 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086792T>C;NG_029519.1:g.19802T>C;NM_005069.3:c.348+1870T>C;NM_009586.2:c.348+1870T>C 228558683 55893727 pilot_1_YRI_10368366_chr21_37008662 1.01e-02 2010.04.22 2010.04.22 2007.12.06 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38086815G>A;NG_029519.1:g.19825G>A;NM_005069.3:c.348+1893G>A;NM_009586.2:c.348+1893G>A 341012516 138587962 20100804_snps_12656057_chr21_38086815 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38086825delT;NG_029519.1:g.19835delT;NM_005069.3:c.348+1903delT;NM_009586.2:c.348+1903delT 15170078 11294513 INDEL_GP34_WGS_274522 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38086929G>A;NG_029519.1:g.19939G>A;NM_005069.3:c.348+2007G>A;NM_009586.2:c.348+2007G>A 341012517 149286590 20100804_snps_12656058_chr21_38086929 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087088A>G;NG_029519.1:g.20098A>G;NM_005069.3:c.348+2166A>G;NM_009586.2:c.348+2166A>G 466052593 185250439 20101123_snps_12219823_chr21_38087088 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38087094A>C;NG_029519.1:g.20104A>C;NM_005069.3:c.348+2172A>C;NM_009586.2:c.348+2172A>C 96168123 71332546 1103643115870 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087116A>G;NG_029519.1:g.20126A>G;NM_005069.3:c.348+2194A>G;NM_009586.2:c.348+2194A>G 341012518 144541776 20100804_snps_12656059_chr21_38087116 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 4015111 2246036 P00222545 2.91e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 4035526 2246036 AP001726.1_272578 2.91e-01 2001.09.26 2006.10.25 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 10980045 2246036 chr21.NT_011512.8_23747544 2.91e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 14439849 2246036 chr21.NT_011512.9_23747545 2.91e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 17708308 2246036 CSHL-HuCC-200402.chr21.NT_011512.9_23747545 2.91e-01 2004.02.19 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 24219668 2246036 afd0075602 2.91e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 44251669 2246036 hCV2990380 2.91e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 66836211 2246036 HumanHap300v1.1_rs2246036 2.91e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 67237497 2246036 HumanHap550v1.1_rs2246036 2.91e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 67633818 2246036 HumanHap650Yv1.0_rs2246036 2.91e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 70715824 2246036 HumanHap550v3.0__rs2246036 2.91e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 71283726 2246036 HumanHap650Yv3.0_rs2246036 2.91e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 75921763 2246036 ILMN_Human_1M_rs2246036 2.91e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 77500591 2246036 Cor12156_SNV_20070510.chr21_37009019 2.91e-01 2007.10.13 2007.10.13 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 78978984 2246036 Cor18507_SNV_20070510.chr21_37009019 2.91e-01 2007.10.21 2007.10.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 79123141 2246036 HumanHap300v2.0_rs2246036 2.91e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 83729492 2246036 Cor19240_SNV_20070510.chr21_37009019 2.91e-01 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 84007625 2246036 KHS600034 2.91e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 91834656 2246036 JWB-1494562 2.91e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 103822048 2246036 BGI_rs2246036 2.91e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 112461654 2246036 CEU.trio.12.15.2008_3763635_chr21_37009019 2.91e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 113877036 2246036 NA19240_2008_12_16_3401855_chr21_37009019 2.91e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 117520763 2246036 NA18507_000036532_NCBI36.1_chr21_37009019 2.91e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 CHURCH_CG54K 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 120034053 2246036 chr21.37009013_32 2.91e-01 2009.02.24 2010.03.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 121965466 2246036 HumanCNV370v1_C_rs2246036 2.91e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 138314869 2246036 ENSSNP5752271 2.91e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 153893490 2246036 Human610_Quadv1_B_rs2246036-128_T_F_1501715548 2.91e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 159372166 2246036 Human660W-Quad_v1_A_rs2246036-128_T_F_1501715548 2.91e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 161360972 2246036 ENSSNP1974378 2.91e-01 2009.09.24 2009.09.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 168000756 2246036 NA07022_36_chr21_37009019 2.91e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 169456306 2246036 NA19240_36_chr21_37009019 2.91e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 171120797 2246036 HumanCNV370-Quadv3_C_rs2246036-128_T_F_1501715548 2.91e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 172013927 2246036 NA20431_36_chr21_37009019 2.91e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 173212446 2246036 Human1M-Duov3_B_rs2246036-128_T_F_1501715548 2.91e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 204013955 2246036 BUSHMAN-chr21-37009018 2.91e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 208801071 2246036 BCM_CMT_1011-3256504 2.91e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 228558684 2246036 pilot_1_YRI_10368367_chr21_37009019 2.91e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 237978055 2246036 pilot_1_CEU_7582684_chr21_37009019 2.91e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 244117274 2246036 pilot_1_CHB+JPT_6002351_chr21_37009019 2.91e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 255945797 2246036 SNP32838_21_37009019 2.91e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 283537658 2246036 GMI_AK_SNP_7858079 2.91e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 292708625 2246036 SNP_2214983_chr21_37009019 2.91e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087149G>A;NG_029519.1:g.20159G>A;NM_005069.3:c.348+2227G>A;NM_009586.2:c.348+2227G>A 410920940 2246036 Cardio-Metabo_Chip_11395247_A_rs2246036 2.91e-01 2011.06.07 2011.06.07 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087239A>G;NG_029519.1:g.20249A>G;NM_005069.3:c.348+2317A>G;NM_009586.2:c.348+2317A>G 341012519 139817037 20100804_snps_12656060_chr21_38087239 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BGI 6493 NC_000021.8:g.38087286G>T;NC_000021.8:g.38087286delG;NG_029519.1:g.20296G>T;NG_029519.1:g.20296delG;NM_005069.3:c.348+2364G>T;NM_005069.3:c.348+2364delG;NM_009586.2:c.348+2364G>T;NM_009586.2:c.348+2364delG 104735584 78205960 BGI_YHIndel43900 2008.06.09 2009.06.16 2009.12.01 2011.09.09 137 BL 6493 NC_000021.8:g.38087286G>T;NC_000021.8:g.38087286delG;NG_029519.1:g.20296G>T;NG_029519.1:g.20296delG;NM_005069.3:c.348+2364G>T;NM_005069.3:c.348+2364delG;NM_009586.2:c.348+2364G>T;NM_009586.2:c.348+2364delG 256199745 78205960 SNP2561_21_37009156 2010.08.20 2010.08.20 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087286G>T;NC_000021.8:g.38087286delG;NG_029519.1:g.20296G>T;NG_029519.1:g.20296delG;NM_005069.3:c.348+2364G>T;NM_005069.3:c.348+2364delG;NM_009586.2:c.348+2364G>T;NM_009586.2:c.348+2364delG 327986065 78205960 JPTCHB_chr21_37009156_indel 2011.03.13 2011.04.03 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087286G>T;NC_000021.8:g.38087286delG;NG_029519.1:g.20296G>T;NG_029519.1:g.20296delG;NM_005069.3:c.348+2364G>T;NM_005069.3:c.348+2364delG;NM_009586.2:c.348+2364G>T;NM_009586.2:c.348+2364delG 328091390 78205960 CEU_chr21_37009156_indel 2011.03.13 2011.04.03 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087286G>T;NC_000021.8:g.38087286delG;NG_029519.1:g.20296G>T;NG_029519.1:g.20296delG;NM_005069.3:c.348+2364G>T;NM_005069.3:c.348+2364delG;NM_009586.2:c.348+2364G>T;NM_009586.2:c.348+2364delG 328316690 78205960 YRI_chr21_37009156_indel 2011.03.13 2011.04.04 2009.12.01 2011.09.09 137 HGSV 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 77900546 56007438 Cor12156_DIV_20070510.chr21_37009156-37009158_1 0 2007.10.15 2007.10.15 2007.12.07 2012.11.28 137 HGSV 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 81584623 56007438 Cor19129_DIV_20070510.chr21_37009156-37009158_1 0 2007.11.30 2007.11.30 2007.12.07 2012.11.28 137 HGSV 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 82991902 56007438 Cor19240_DIV_20070510.chr21_37009156-37009158_1 0 2007.12.04 2007.12.04 2007.12.07 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 95751152 56007438 1104685581948 0 2008.03.23 2008.12.03 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 99515297 56007438 INDEL_GP36_2007a_583771_0 0 2008.05.05 2008.05.05 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331760 56007438 INDEL_GP36_2008a_583771_1 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331763 56007438 INDEL_GP36_2008a_583771_2 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331764 56007438 INDEL_GP36_2008a_583771_3 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331769 56007438 INDEL_GP36_2008a_583771_4 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331770 56007438 INDEL_GP36_2008a_583771_5 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331774 56007438 INDEL_GP36_2008a_583771_6 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331777 56007438 INDEL_GP36_2008a_583771_7 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331779 56007438 INDEL_GP36_2008a_583771_8 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 102331784 56007438 INDEL_GP36_2008a_583771_9 0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 GMI 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 155827196 56007438 GMI_INDEL-163180 0 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 193633784 56007438 BUSHMAN-chr21-37009156-37009157 0 2010.02.17 2010.02.17 2007.12.07 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38087287T>A;NG_029519.1:g.20297T>A;NM_005069.3:c.348+2365T>A;NM_009586.2:c.348+2365T>A 208811167 112803975 BCM_CMT_1011-3266602 2010.03.20 2010.03.20 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38087287T>A;NG_029519.1:g.20297T>A;NM_005069.3:c.348+2365T>A;NM_009586.2:c.348+2365T>A 283537659 112803975 GMI_AK_SNP_7858080 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 288549449 56007438 GMI_NA10851_INDEL_308457 0 2010.12.22 2010.12.22 2007.12.07 2012.11.28 137 GMI 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 289434410 56007438 GMI_AK_INDEL_1111890 0 2010.12.30 2011.12.30 2007.12.07 2012.11.28 137 PJP 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 295067584 56007438 DIP_505288_chr21_37009157 0 2011.01.23 2011.01.23 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087287delT;NG_029519.1:g.20297delT;NM_005069.3:c.348+2365delT;NM_009586.2:c.348+2365delT 499804898 56007438 20110316_indels_chr21_38087286_38087286 0 2012.03.20 2012.03.20 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087300A>T;NG_029519.1:g.20310A>T;NM_005069.3:c.348+2378A>T;NM_009586.2:c.348+2378A>T 466052594 190150105 20101123_snps_12219824_chr21_38087300 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38087344A>T;NG_029519.1:g.20354A>T;NM_005069.3:c.348+2422A>T;NM_009586.2:c.348+2422A>T 466052595 182251207 20101123_snps_12219825_chr21_38087344 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38087376A>G;NG_029519.1:g.20386A>G;NM_005069.3:c.348+2454A>G;NM_009586.2:c.348+2454A>G 466052596 185648891 20101123_snps_12219826_chr21_38087376 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38087415A>G;NG_029519.1:g.20425A>G;NM_005069.3:c.348+2493A>G;NM_009586.2:c.348+2493A>G 466052597 188326041 20101123_snps_12219827_chr21_38087415 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38087467G>A;NG_029519.1:g.20477G>A;NM_005069.3:c.348+2545G>A;NM_009586.2:c.348+2545G>A 341012520 143711512 20100804_snps_12656061_chr21_38087467 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087481G>T;NG_029519.1:g.20491G>T;NM_005069.3:c.348+2559G>T;NM_009586.2:c.348+2559G>T 341012521 147149992 20100804_snps_12656062_chr21_38087481 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087487C>T;NG_029519.1:g.20497C>T;NM_005069.3:c.348+2565C>T;NM_009586.2:c.348+2565C>T 341012522 140264990 20100804_snps_12656063_chr21_38087487 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087488G>A;NG_029519.1:g.20498G>A;NM_005069.3:c.348+2566G>A;NM_009586.2:c.348+2566G>A 341012523 142125752 20100804_snps_12656064_chr21_38087488 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087494C>T;NG_029519.1:g.20504C>T;NM_005069.3:c.348+2572C>T;NM_009586.2:c.348+2572C>T 244117275 118160642 pilot_1_CHB+JPT_6002352_chr21_37009364 1.69e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38087535delT;NG_029519.1:g.20545delT;NM_005069.3:c.348+2613delT;NM_009586.2:c.348+2613delT 499804902 200966030 20110316_indels_chr21_38087534_38087534 4.60e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087579A>T;NG_029519.1:g.20589A>T;NM_005069.3:c.348+2657A>T;NM_009586.2:c.348+2657A>T 466052598 180838861 20101123_snps_12219828_chr21_38087579 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 4015112 2835444 P00222546 2.29e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 6651730 2835444 NT_011512.7_23748078 2.29e-01 2003.02.13 2006.10.25 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 10988940 2835444 chr21.NT_011512.8_23748037 2.29e-01 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 14444253 2835444 chr21.NT_011512.9_23748038 2.29e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 24712378 2835444 afd0075605 2.29e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 67277459 2835444 HumanHap550v1.1_rs2835444 2.29e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 67679110 2835444 HumanHap650Yv1.0_rs2835444 2.29e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 68213338 2835444 HumanHap250Sv1.0_rs2835444 2.29e-01 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 70755969 2835444 HumanHap550v3.0__rs2835444 2.29e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 71329172 2835444 HumanHap650Yv3.0_rs2835444 2.29e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 75821446 2835444 ILMN_Human_1M_rs2835444 2.29e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 84100645 2835444 KHS635173 2.29e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 91834658 2835444 JWB-1494563 2.29e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 103822051 2835444 BGI_rs2835444 2.29e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 112461658 2835444 CEU.trio.12.15.2008_3763636_chr21_37009512 2.29e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 138314870 2835444 ENSSNP11885104 2.29e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 154238740 2835444 Human610_Quadv1_B_rs2835444-123_B_R_1502198805 2.29e-01 2009.06.20 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 159415131 2835444 Human660W-Quad_v1_A_rs2835444-123_B_R_1502198805 2.29e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 173485085 2835444 Human1M-Duov3_B_rs2835444-123_B_R_1502198805 2.29e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 204013956 2835444 BUSHMAN-chr21-37009511 2.29e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 228558685 2835444 pilot_1_YRI_10368368_chr21_37009512 2.29e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 237978056 2835444 pilot_1_CEU_7582685_chr21_37009512 2.29e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 244117276 2835444 pilot_1_CHB+JPT_6002353_chr21_37009512 2.29e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 255945803 2835444 SNP32839_21_37009512 2.29e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38087642A>G;NG_029519.1:g.20652A>G;NM_005069.3:c.348+2720A>G;NM_009586.2:c.348+2720A>G 283537660 2835444 GMI_AK_SNP_7858081 2.29e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087653G>A;NG_029519.1:g.20663G>A;NM_005069.3:c.348+2731G>A;NM_009586.2:c.348+2731G>A 112461662 73210771 CEU.trio.12.15.2008_3763637_chr21_37009523 1.47e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087653G>A;NG_029519.1:g.20663G>A;NM_005069.3:c.348+2731G>A;NM_009586.2:c.348+2731G>A 237978057 73210771 pilot_1_CEU_7582686_chr21_37009523 1.47e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 6493 NC_000021.8:g.38087653G>A;NG_029519.1:g.20663G>A;NM_005069.3:c.348+2731G>A;NM_009586.2:c.348+2731G>A 255945808 73210771 SNP32840_21_37009523 1.47e-02 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087653G>A;NG_029519.1:g.20663G>A;NM_005069.3:c.348+2731G>A;NM_009586.2:c.348+2731G>A 483968076 73210771 HumanOmni2.5-4v1_D_kgp7765524-0_B_R_1819933017 1.47e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087653G>A;NG_029519.1:g.20663G>A;NM_005069.3:c.348+2731G>A;NM_009586.2:c.348+2731G>A 484267484 73210771 HumanOmni2.5-4v1_B_SNP21-37009523-0_B_R_1634434031 1.47e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38087690T>A;NG_029519.1:g.20700T>A;NM_005069.3:c.348+2768T>A;NM_009586.2:c.348+2768T>A 4040784 2854043 D85922.1_27201 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 4015113 2835445 P00222547 4.90e-02 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 24712379 2835445 afd0075606 4.90e-02 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 112461666 2835445 CEU.trio.12.15.2008_3763638_chr21_37009686 4.90e-02 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 160585294 2835445 HumanOmni1-Quad_v1-0_B_rs2835445-128_B_R_1569292851 4.90e-02 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 237978058 2835445 pilot_1_CEU_7582687_chr21_37009686 4.90e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38087816G>A;NG_029519.1:g.20826G>A;NM_005069.3:c.348+2894G>A;NM_009586.2:c.348+2894G>A 481555422 2835445 HumanOmni1-Quad_v1-0_C_rs2835445-131_B_R_1863371546 4.90e-02 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088020T>G;NG_029519.1:g.21030T>G;NM_005069.3:c.348+3098T>G;NM_009586.2:c.348+3098T>G 341012525 139893877 20100804_snps_12656066_chr21_38088020 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088156G>T;NG_029519.1:g.21166G>T;NM_005069.3:c.348+3234G>T;NM_009586.2:c.348+3234G>T 466052599 184910565 20101123_snps_12219829_chr21_38088156 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38088182C>T;NG_029519.1:g.21192C>T;NM_005069.3:c.348+3260C>T;NM_009586.2:c.348+3260C>T 466052600 190158909 20101123_snps_12219830_chr21_38088182 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38088206delT;NG_029519.1:g.21216delT;NM_005069.3:c.348+3284delT;NM_009586.2:c.348+3284delT 15208961 11330310 INDEL_GP34_WGS_326677 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088206delT;NG_029519.1:g.21216delT;NM_005069.3:c.348+3284delT;NM_009586.2:c.348+3284delT 99932160 11330310 INDEL_GP36_2007a_532260_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088206delT;NG_029519.1:g.21216delT;NM_005069.3:c.348+3284delT;NM_009586.2:c.348+3284delT 328316691 11330310 YRI_chr21_37010075_indel 2011.03.13 2011.04.04 2004.02.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38088226G>A;NG_029519.1:g.21236G>A;NM_005069.3:c.348+3304G>A;NM_009586.2:c.348+3304G>A 13825662 9982776 chr21.NT_011512.9_23748622 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38088301C>T;NG_029519.1:g.21311C>T;NM_005069.3:c.348+3379C>T;NM_009586.2:c.348+3379C>T 228558686 80315921 pilot_1_YRI_10368369_chr21_37010171 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38088321G>T;NG_029519.1:g.21331G>T;NM_005069.3:c.348+3399G>T;NM_009586.2:c.348+3399G>T 466052601 181183565 20101123_snps_12219831_chr21_38088321 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38088362G>A;NG_029519.1:g.21372G>A;NM_005069.3:c.348+3440G>A;NM_009586.2:c.348+3440G>A 341012526 149836146 20100804_snps_12656067_chr21_38088362 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088371C>T;NG_029519.1:g.21381C>T;NM_005069.3:c.348+3449C>T;NM_009586.2:c.348+3449C>T 466052602 186896555 20101123_snps_12219832_chr21_38088371 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38088377C>T;NG_029519.1:g.21387C>T;NM_005069.3:c.348+3455C>T;NM_009586.2:c.348+3455C>T 341012527 146840200 20100804_snps_12656068_chr21_38088377 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088417A>G;NG_029519.1:g.21427A>G;NM_005069.3:c.348+3495A>G;NM_009586.2:c.348+3495A>G 466052603 191786661 20101123_snps_12219833_chr21_38088417 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6493 NC_000021.8:g.38088422C>T;NG_029519.1:g.21432C>T;NM_005069.3:c.348+3500C>T;NM_009586.2:c.348+3500C>T 21823061 13049966 WGSA-200403-chr21.chr21.NT_011512.9_23748818 1.05e-02 2004.03.20 2006.10.26 2004.04.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38088422C>T;NG_029519.1:g.21432C>T;NM_005069.3:c.348+3500C>T;NM_009586.2:c.348+3500C>T 135607462 13049966 ENSSNP1974379 1.05e-02 2009.05.14 2009.10.14 2004.04.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088422C>T;NG_029519.1:g.21432C>T;NM_005069.3:c.348+3500C>T;NM_009586.2:c.348+3500C>T 237978059 13049966 pilot_1_CEU_7582688_chr21_37010292 1.05e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38088422C>T;NG_029519.1:g.21432C>T;NM_005069.3:c.348+3500C>T;NM_009586.2:c.348+3500C>T 292708626 13049966 SNP_2214984_chr21_37010292 1.05e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38088462C>T;NG_029519.1:g.21472C>T;NM_005069.3:c.348+3540C>T;NM_009586.2:c.348+3540C>T 156891515 78950115 GMI_SNP_37845924 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38088462C>T;NG_029519.1:g.21472C>T;NM_005069.3:c.348+3540C>T;NM_009586.2:c.348+3540C>T 283537661 78950115 GMI_AK_SNP_7858082 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 13825994 9983083 chr21.NT_011512.9_23748946 4.90e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 15684809 9983083 NT_011512.9_23748946 4.90e-01 2003.11.17 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 17711982 9983083 CSHL-HuCC-200402.chr21.NT_011512.9_23748946 4.90e-01 2004.02.19 2004.03.04 2003.12.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 41485173 9983083 hCV29887253 4.90e-01 2005.07.17 2006.11.03 2003.12.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 69253507 9983083 PGP00075607 4.90e-01 2007.01.30 2008.03.31 2003.12.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 74835014 9983083 SNP_M-592330 4.90e-01 2007.08.09 2007.08.09 2003.12.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 76479517 9983083 AFFY_6_1M_SNP_A-8340603 4.90e-01 2007.08.30 2007.08.30 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 77356667 9983083 Cor12156_SNV_20070510.chr21_37010420 4.90e-01 2007.10.10 2007.10.12 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 81369047 9983083 Cor18507_SNV_20070510.chr21_37010420 4.90e-01 2007.11.29 2007.11.29 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 83019073 9983083 Cor19240_SNV_20070510.chr21_37010420 4.90e-01 2007.12.04 2007.12.04 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 85000707 9983083 Cor19129_SNV_20070510.chr21_37010420 4.90e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 91834661 9983083 JWB-1494564 4.90e-01 2008.03.02 2008.03.02 2003.12.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 103822053 9983083 BGI_rs9983083 4.90e-01 2008.06.07 2009.06.18 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 104995526 9983083 KHS1387849 4.90e-01 2008.07.10 2008.07.10 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 112461670 9983083 CEU.trio.12.15.2008_3763639_chr21_37010420 4.90e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 113877040 9983083 NA19240_2008_12_16_3401856_chr21_37010420 4.90e-01 2008.12.18 2008.12.18 2003.12.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 117520765 9983083 NA18507_000036533_NCBI36.1_chr21_37010420 4.90e-01 2009.01.19 2009.01.19 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 138314871 9983083 ENSSNP11885105 4.90e-01 2009.05.17 2009.05.17 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 156891522 9983083 GMI_SNP_176117185 4.90e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 161360974 9983083 ENSSNP1974380 4.90e-01 2009.09.24 2009.09.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 169456322 9983083 NA19240_36_chr21_37010420 4.90e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 172013935 9983083 NA20431_36_chr21_37010420 4.90e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 204013957 9983083 BUSHMAN-chr21-37010419 4.90e-01 2010.03.10 2010.03.10 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 208791831 9983083 BCM_CMT_1011-3247264 4.90e-01 2010.03.20 2010.03.20 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 228558687 9983083 pilot_1_YRI_10368370_chr21_37010420 4.90e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 237978060 9983083 pilot_1_CEU_7582689_chr21_37010420 4.90e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 244117278 9983083 pilot_1_CHB+JPT_6002355_chr21_37010420 4.90e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 255945813 9983083 SNP32841_21_37010420 4.90e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 283537662 9983083 GMI_AK_SNP_7858083 4.90e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38088550G>A;NG_029519.1:g.21560G>A;NM_005069.3:c.349-3572G>A;NM_009586.2:c.349-3572G>A 292708627 9983083 SNP_2214985_chr21_37010420 4.90e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088607C>T;NG_029519.1:g.21617C>T;NM_005069.3:c.349-3515C>T;NM_009586.2:c.349-3515C>T 466052604 184074311 20101123_snps_12219834_chr21_38088607 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38088659A>T;NG_029519.1:g.21669A>T;NM_005069.3:c.349-3463A>T;NM_009586.2:c.349-3463A>T 466052605 187882977 20101123_snps_12219835_chr21_38088659 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 6493 NC_000021.8:g.38088695A>C;NC_000021.8:g.38088695delA;NG_029519.1:g.21705A>C;NG_029519.1:g.21705delA;NM_005069.3:c.349-3427A>C;NM_005069.3:c.349-3427delA;NM_009586.2:c.349-3427A>C;NM_009586.2:c.349-3427delA 104735585 79959006 BGI_YHIndel43901 2008.06.09 2009.06.16 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088695A>C;NC_000021.8:g.38088695delA;NG_029519.1:g.21705A>C;NG_029519.1:g.21705delA;NM_005069.3:c.349-3427A>C;NM_005069.3:c.349-3427delA;NM_009586.2:c.349-3427A>C;NM_009586.2:c.349-3427delA 327986067 79959006 JPTCHB_chr21_37010565_indel 2011.03.13 2011.04.03 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088695A>C;NC_000021.8:g.38088695delA;NG_029519.1:g.21705A>C;NG_029519.1:g.21705delA;NM_005069.3:c.349-3427A>C;NM_005069.3:c.349-3427delA;NM_009586.2:c.349-3427A>C;NM_009586.2:c.349-3427delA 328091392 79959006 CEU_chr21_37010565_indel 2011.03.13 2011.04.03 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38088695A>C;NC_000021.8:g.38088695delA;NG_029519.1:g.21705A>C;NG_029519.1:g.21705delA;NM_005069.3:c.349-3427A>C;NM_005069.3:c.349-3427delA;NM_009586.2:c.349-3427A>C;NM_009586.2:c.349-3427delA 328316692 79959006 YRI_chr21_37010565_indel 2011.03.13 2011.04.04 2009.12.01 2011.09.09 137 HGSV 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 77918408 56409375 Cor12156_DIV_20070510.chr21_37010565-37010567_1 4.93e-01 2007.10.16 2007.10.16 2007.12.08 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 77972594 56409375 Cor12156_DIV_20070510.chr21_37010565-37010567_2 4.93e-01 2007.10.16 2007.10.16 2007.12.08 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 81917200 56409375 Cor19129_DIV_20070510.chr21_37010565-37010567_1 4.93e-01 2007.12.01 2007.12.01 2007.12.08 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 101115258 56409375 INDEL_GP36_2008a_557881_0 4.93e-01 2008.05.17 2008.05.17 2007.12.08 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 101115263 56409375 INDEL_GP36_2008a_557881_1 4.93e-01 2008.05.17 2008.05.17 2007.12.08 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 101115265 56409375 INDEL_GP36_2008a_557881_2 4.93e-01 2008.05.17 2008.05.17 2007.12.08 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 101115267 56409375 INDEL_GP36_2008a_557881_3 4.93e-01 2008.05.17 2008.05.17 2007.12.08 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 101115271 56409375 INDEL_GP36_2008a_557881_4 4.93e-01 2008.05.17 2008.05.17 2007.12.08 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 193633786 56409375 BUSHMAN-chr21-37010565-37010566 4.93e-01 2010.02.17 2010.02.17 2007.12.08 2012.11.28 137 GMI 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 288549451 56409375 GMI_NA10851_INDEL_308458 4.93e-01 2010.12.22 2010.12.22 2007.12.08 2012.11.28 137 GMI 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 289434411 56409375 GMI_AK_INDEL_1111891 4.93e-01 2010.12.30 2011.12.30 2007.12.08 2012.11.28 137 PJP 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 295067585 56409375 DIP_505289_chr21_37010566 4.93e-01 2011.01.23 2011.01.23 2007.12.08 2012.11.28 137 GMI 6493 NC_000021.8:g.38088696C>A;NG_029519.1:g.21706C>A;NM_005069.3:c.349-3426C>A;NM_009586.2:c.349-3426C>A 475855875 201365728 GMI_AK_SNP_8524373 2011.11.24 2011.11.24 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38088696delC;NG_029519.1:g.21706delC;NM_005069.3:c.349-3426delC;NM_009586.2:c.349-3426delC 499804906 56409375 20110316_indels_chr21_38088695_38088695 4.93e-01 2012.03.20 2012.03.20 2007.12.08 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38088729C>A;NG_029519.1:g.21739C>A;NM_005069.3:c.349-3393C>A;NM_009586.2:c.349-3393C>A 482736932 200856673 HumanOmni2.5-4v1_D_kgp22778232-0_B_R_1860529299 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38088729C>A;NG_029519.1:g.21739C>A;NM_005069.3:c.349-3393C>A;NM_009586.2:c.349-3393C>A 484267486 200856673 HumanOmni2.5-4v1_B_SNP21-37010599-0_B_R_1645281879 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088879A>C;NG_029519.1:g.21889A>C;NM_005069.3:c.349-3243A>C;NM_009586.2:c.349-3243A>C 228558690 76139714 pilot_1_YRI_10368373_chr21_37010749 2.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 4040785 2854044 D85922.1_28444 2.84e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 14430401 2854044 chr21.NT_011512.9_23749329 2.84e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 44268293 2854044 hCV15825221 2.84e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 77422375 2854044 Cor12156_SNV_20070510.chr21_37010803 2.84e-01 2007.10.12 2007.10.12 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 85367844 2854044 Cor18517_SNV_20070510.chr21_37010803 2.84e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 91834663 2854044 JWB-1494565 2.84e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 103822054 2854044 BGI_rs2854044 2.84e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 112461673 2854044 CEU.trio.12.15.2008_3763640_chr21_37010803 2.84e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 113877052 2854044 NA19240_2008_12_16_3401857_chr21_37010803 2.84e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 117520766 2854044 NA18507_000036534_NCBI36.1_chr21_37010803 2.84e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 138314872 2854044 ENSSNP11885106 2.84e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 156891529 2854044 GMI_SNP_100091431 2.84e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 168000773 2854044 NA07022_36_chr21_37010803 2.84e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 169456337 2854044 NA19240_36_chr21_37010803 2.84e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 172013943 2854044 NA20431_36_chr21_37010803 2.84e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 204013958 2854044 BUSHMAN-chr21-37010802 2.84e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 208790443 2854044 BCM_CMT_1011-3245876 2.84e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 228558691 2854044 pilot_1_YRI_10368374_chr21_37010803 2.84e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 237978061 2854044 pilot_1_CEU_7582690_chr21_37010803 2.84e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 244117280 2854044 pilot_1_CHB+JPT_6002357_chr21_37010803 2.84e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 255945821 2854044 SNP32842_21_37010803 2.84e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 283537663 2854044 GMI_AK_SNP_7858084 2.84e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38088933A>G;NG_029519.1:g.21943A>G;NM_005069.3:c.349-3189A>G;NM_009586.2:c.349-3189A>G 292708628 2854044 SNP_2214986_chr21_37010803 2.84e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089005A>G;NG_029519.1:g.22015A>G;NM_005069.3:c.349-3117A>G;NM_009586.2:c.349-3117A>G 212084205 77765872 YRI.trio.3.2010_1500826_chr21_37010875 2.24e-02 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38089005A>G;NG_029519.1:g.22015A>G;NM_005069.3:c.349-3117A>G;NM_009586.2:c.349-3117A>G 228558692 77765872 pilot_1_YRI_10368375_chr21_37010875 2.24e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 PERLEGEN 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 4015114 2835446 P00222548 1.98e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 14430620 2835446 chr21.NT_011512.9_23749493 1.98e-01 2003.11.07 2006.10.25 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 24712380 2835446 afd0075609 1.98e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 66371620 2835446 SNP_A-2018909 1.98e-01 2006.10.29 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 67277460 2835446 HumanHap550v1.1_rs2835446 1.98e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 67679111 2835446 HumanHap650Yv1.0_rs2835446 1.98e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 68213339 2835446 HumanHap250Sv1.0_rs2835446 1.98e-01 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 69253508 2835446 PGP00075609 1.98e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 70755970 2835446 HumanHap550v3.0__rs2835446 1.98e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 71329173 2835446 HumanHap650Yv3.0_rs2835446 1.98e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 75674656 2835446 ILMN_Human_1M_rs2835446 1.98e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 76098398 2835446 AFFY_6_1M_SNP_A-2018909 1.98e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 77376163 2835446 Cor12156_SNV_20070510.chr21_37010967 1.98e-01 2007.10.10 2007.10.12 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 78879716 2835446 Cor18507_SNV_20070510.chr21_37010967 1.98e-01 2007.10.21 2007.10.21 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 84100649 2835446 KHS635174 1.98e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 113877060 2835446 NA19240_2008_12_16_3401858_chr21_37010967 1.98e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 117520768 2835446 NA18507_000036535_NCBI36.1_chr21_37010967 1.98e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 154238741 2835446 Human610_Quadv1_B_rs2835446-123_B_R_1502199458 1.98e-01 2009.06.20 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 159415132 2835446 Human660W-Quad_v1_A_rs2835446-123_B_R_1502199458 1.98e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 160585295 2835446 HumanOmni1-Quad_v1-0_B_rs2835446-123_B_R_1501486244 1.98e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 168000782 2835446 NA07022_36_chr21_37010967 1.98e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 169456354 2835446 NA19240_36_chr21_37010967 1.98e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 172013952 2835446 NA20431_36_chr21_37010967 1.98e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 172498312 2835446 GenomeWideSNP_5_SNP_A-2018909 1.98e-01 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 173485088 2835446 Human1M-Duov3_B_rs2835446-123_B_R_1502199458 1.98e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 204013959 2835446 BUSHMAN-chr21-37010966 1.98e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 208803076 2835446 BCM_CMT_1011-3258509 1.98e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 228558693 2835446 pilot_1_YRI_10368376_chr21_37010967 1.98e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 237978062 2835446 pilot_1_CEU_7582691_chr21_37010967 1.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 244117281 2835446 pilot_1_CHB+JPT_6002358_chr21_37010967 1.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 255945825 2835446 SNP32843_21_37010967 1.98e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 283537664 2835446 GMI_AK_SNP_7858085 1.98e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 292708629 2835446 SNP_2214987_chr21_37010967 1.98e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 480683016 2835446 HumanOmni2.5-4v1_B_rs2835446-127_B_R_1782957024 1.98e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 480698538 2835446 HumanOmniExpress-12v1_C_rs2835446-131_B_R_1857331960 1.98e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 481555428 2835446 HumanOmni1-Quad_v1-0_C_rs2835446-131_B_R_1865768514 1.98e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089097A>G;NG_029519.1:g.22107A>G;NM_005069.3:c.349-3025A>G;NM_009586.2:c.349-3025A>G 485136347 2835446 HumanOmni2.5-4v1_D_rs2835446-131_B_R_1857331960 1.98e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089132A>G;NG_029519.1:g.22142A>G;NM_005069.3:c.349-2990A>G;NM_009586.2:c.349-2990A>G 341012529 144470952 20100804_snps_12656070_chr21_38089132 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 77923664 55850625 Cor12156_DIV_20070510.chr21_37011043-37011045_1 2007.10.16 2007.10.16 2007.12.06 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 101582724 55850625 INDEL_GP36_2008a_1422225_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 101582726 55850625 INDEL_GP36_2008a_1422225_1 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 102431400 55850625 INDEL_GP36_2008a_2102214_0 2008.05.18 2008.05.18 2007.12.06 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 193633788 55850625 BUSHMAN-chr21-37011031-37011032 2010.02.17 2010.02.17 2007.12.06 2012.11.28 137 GMI 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 288549453 55850625 GMI_NA10851_INDEL_308459 2010.12.22 2010.12.22 2007.12.06 2012.11.28 137 GMI 6493 NC_000021.8:g.38089162delT;NG_029519.1:g.22172delT;NM_005069.3:c.349-2960delT;NM_009586.2:c.349-2960delT 289434412 55850625 GMI_AK_INDEL_1111892 2010.12.30 2011.12.30 2007.12.06 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089174T>C;NG_029519.1:g.22184T>C;NM_005069.3:c.349-2948T>C;NM_009586.2:c.349-2948T>C 482755982 201163266 HumanOmni2.5-4v1_D_kgp22784594-0_B_F_1860542022 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089174T>C;NG_029519.1:g.22184T>C;NM_005069.3:c.349-2948T>C;NM_009586.2:c.349-2948T>C 484267488 201163266 HumanOmni2.5-4v1_B_SNP21-37011044-0_B_F_1641368662 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089174_38089175insG;NG_029519.1:g.22184_22185insG;NM_005069.3:c.349-2948_349-2947insG;NM_009586.2:c.349-2948_349-2947insG 499804910 200538777 20110316_indels_chr21_38089174_38089175 1.01e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 77284114 56269215 Cor12156_SNV_20070510.chr21_37011045 2.09e-01 2007.10.10 2007.10.12 2007.12.07 2012.11.28 137 HGSV 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 78772987 56269215 Cor18507_SNV_20070510.chr21_37011045 2.09e-01 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 113877070 56269215 NA19240_2008_12_16_3401859_chr21_37011045 2.09e-01 2008.12.18 2008.12.18 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 228558694 56269215 pilot_1_YRI_10368377_chr21_37011045 2.09e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 237978063 56269215 pilot_1_CEU_7582692_chr21_37011045 2.09e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 244117282 56269215 pilot_1_CHB+JPT_6002359_chr21_37011045 2.09e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 255945830 56269215 SNP32844_21_37011045 2.09e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6493 NC_000021.8:g.38089175T>C;NG_029519.1:g.22185T>C;NM_005069.3:c.349-2947T>C;NM_009586.2:c.349-2947T>C 283537665 56269215 GMI_AK_SNP_7858086 2.09e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089281T>C;NG_029519.1:g.22291T>C;NM_005069.3:c.349-2841T>C;NM_009586.2:c.349-2841T>C 341012530 146553216 20100804_snps_12656071_chr21_38089281 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38089324G>A;NG_029519.1:g.22334G>A;NM_005069.3:c.349-2798G>A;NM_009586.2:c.349-2798G>A 466052606 190849426 20101123_snps_12219836_chr21_38089324 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6493 NC_000021.8:g.38089352A>T;NG_029519.1:g.22362A>T;NM_005069.3:c.349-2770A>T;NM_009586.2:c.349-2770A>T 156891536 77298223 GMI_SNP_38103201 5.00e-04 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38089352A>T;NG_029519.1:g.22362A>T;NM_005069.3:c.349-2770A>T;NM_009586.2:c.349-2770A>T 283537666 77298223 GMI_AK_SNP_7858087 5.00e-04 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089352A>T;NG_029519.1:g.22362A>T;NM_005069.3:c.349-2770A>T;NM_009586.2:c.349-2770A>T 341012531 77298223 20100804_snps_12656072_chr21_38089352 5.00e-04 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38089364C>T;NG_029519.1:g.22374C>T;NM_005069.3:c.349-2758C>T;NM_009586.2:c.349-2758C>T 208801119 112188660 BCM_CMT_1011-3256552 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 HGSV 6493 NC_000021.8:g.38089408C>T;NG_029519.1:g.22418C>T;NM_005069.3:c.349-2714C>T;NM_009586.2:c.349-2714C>T 82193862 61590156 Cor19240_SNV_20070510.chr21_37011278 2007.12.02 2007.12.02 2007.12.16 2011.07.08 137 ABI 6493 NC_000021.8:g.38089426_38089427insC;NG_029519.1:g.22436_22437insC;NM_005069.3:c.349-2696_349-2695insC;NM_009586.2:c.349-2696_349-2695insC 41499940 35883439 hCV33801747 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38089454C>T;NG_029519.1:g.22464C>T;NM_005069.3:c.349-2668C>T;NM_009586.2:c.349-2668C>T 341012532 143292904 20100804_snps_12656073_chr21_38089454 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38089455G>A;NG_029519.1:g.22465G>A;NM_005069.3:c.349-2667G>A;NM_009586.2:c.349-2667G>A 341012533 148335085 20100804_snps_12656074_chr21_38089455 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6493 NC_000021.8:g.38089487_38089488insC;NG_029519.1:g.22497_22498insC;NM_005069.3:c.349-2635_349-2634insC;NM_009586.2:c.349-2635_349-2634insC 41449747 35188147 hCV33801746 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38089519C>G;NG_029519.1:g.22529C>G;NM_005069.3:c.349-2603C>G;NM_009586.2:c.349-2603C>G 341012534 140495213 20100804_snps_12656075_chr21_38089519 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38089566A>G;NG_029519.1:g.22576A>G;NM_005069.3:c.349-2556A>G;NM_009586.2:c.349-2556A>G 228558696 116714552 pilot_1_YRI_10368379_chr21_37011436 1.83e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38089664C>T;NG_029519.1:g.22674C>T;NM_005069.3:c.349-2458C>T;NM_009586.2:c.349-2458C>T 466052607 182335124 20101123_snps_12219837_chr21_38089664 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38089752_38089753insT;NC_000021.8:g.38089752_38089753insTT;NG_029519.1:g.22762_22763insT;NG_029519.1:g.22762_22763insTT;NM_005069.3:c.349-2370_349-2369insT;NM_005069.3:c.349-2370_349-2369insTT;NM_009586.2:c.349-2370_349-2369insT;NM_009586.2:c.349-2370_349-2369insTT 101817691 66718210 INDEL_GP36_2008a_582318_0 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38089752_38089753insT;NC_000021.8:g.38089752_38089753insTT;NG_029519.1:g.22762_22763insT;NG_029519.1:g.22762_22763insTT;NM_005069.3:c.349-2370_349-2369insT;NM_005069.3:c.349-2370_349-2369insTT;NM_009586.2:c.349-2370_349-2369insT;NM_009586.2:c.349-2370_349-2369insTT 101817694 66718210 INDEL_GP36_2008a_582318_1 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38089752_38089753insT;NC_000021.8:g.38089752_38089753insTT;NG_029519.1:g.22762_22763insT;NG_029519.1:g.22762_22763insTT;NM_005069.3:c.349-2370_349-2369insT;NM_005069.3:c.349-2370_349-2369insTT;NM_009586.2:c.349-2370_349-2369insT;NM_009586.2:c.349-2370_349-2369insTT 102264720 66718210 INDEL_GP36_2008a_2574836_0 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38089752_38089753insT;NC_000021.8:g.38089752_38089753insTT;NG_029519.1:g.22762_22763insT;NG_029519.1:g.22762_22763insTT;NM_005069.3:c.349-2370_349-2369insT;NM_005069.3:c.349-2370_349-2369insTT;NM_009586.2:c.349-2370_349-2369insT;NM_009586.2:c.349-2370_349-2369insTT 102488079 66718210 INDEL_GP36_2008a_1710816_0 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 PJP 6493 NC_000021.8:g.38089752_38089753insT;NC_000021.8:g.38089752_38089753insTT;NG_029519.1:g.22762_22763insT;NG_029519.1:g.22762_22763insTT;NM_005069.3:c.349-2370_349-2369insT;NM_005069.3:c.349-2370_349-2369insTT;NM_009586.2:c.349-2370_349-2369insT;NM_009586.2:c.349-2370_349-2369insTT 295067586 66718210 DIP_505290_chr21_37011622 2011.01.23 2011.01.23 2009.02.04 2012.05.16 137 GMI 6493 NC_000021.8:g.38089766_38089767insT;NG_029519.1:g.22776_22777insT;NM_005069.3:c.349-2356_349-2355insT;NM_009586.2:c.349-2356_349-2355insT 289434413 200506535 GMI_AK_INDEL_1111893 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 SC_JCM 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 4029238 2845803 AP000697.1_91002 4.99e-02 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 41494735 2845803 hCV32360414 4.99e-02 2005.07.17 2006.11.03 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 76479516 2845803 AFFY_6_1M_SNP_A-8340604 4.99e-02 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 104882055 2845803 KHS1274373 4.99e-02 2008.07.10 2008.07.10 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 160588618 2845803 HumanOmni1-Quad_v1-0_B_rs2845803-128_B_F_1580124301 4.99e-02 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 212084207 2845803 YRI.trio.3.2010_1500827_chr21_37011750 4.99e-02 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 228558697 2845803 pilot_1_YRI_10368380_chr21_37011750 4.99e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38089880C>T;NG_029519.1:g.22890C>T;NM_005069.3:c.349-2242C>T;NM_009586.2:c.349-2242C>T 481568848 2845803 HumanOmni1-Quad_v1-0_C_rs2845803-131_B_F_1863321363 4.99e-02 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38089886T>G;NG_029519.1:g.22896T>G;NM_005069.3:c.349-2236T>G;NM_009586.2:c.349-2236T>G 228558698 116497753 pilot_1_YRI_10368381_chr21_37011756 1.69e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38089949C>T;NG_029519.1:g.22959C>T;NM_005069.3:c.349-2173C>T;NM_009586.2:c.349-2173C>T 341012535 146991651 20100804_snps_12656076_chr21_38089949 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090000G>A;NG_029519.1:g.23010G>A;NM_005069.3:c.349-2122G>A;NM_009586.2:c.349-2122G>A 341012536 138100425 20100804_snps_12656077_chr21_38090000 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 4015115 2835447 P00222549 2.35e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 6651731 2835447 NT_011512.7_23750597 2.35e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 12501664 2835447 chr21.NT_011512.8_23750556 2.35e-01 2003.07.04 2006.10.25 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 24712381 2835447 afd0075611 2.35e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 69253509 2835447 PGP00075611 2.35e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 83750121 2835447 Cor18555_SNV_20070510.chr21_37012031 2.35e-01 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 85701650 2835447 Cor19129_SNV_20070510.chr21_37012031 2.35e-01 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 91834665 2835447 JWB-1494566 2.35e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 103822056 2835447 BGI_rs2835447 2.35e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 112461677 2835447 CEU.trio.12.15.2008_3763641_chr21_37012031 2.35e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 156891542 2835447 GMI_SNP_238950691 2.35e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 160585296 2835447 HumanOmni1-Quad_v1-0_B_rs2835447-128_B_F_1549838690 2.35e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 204013960 2835447 BUSHMAN-chr21-37012030 2.35e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 228558699 2835447 pilot_1_YRI_10368382_chr21_37012031 2.35e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 237978064 2835447 pilot_1_CEU_7582693_chr21_37012031 2.35e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 244117284 2835447 pilot_1_CHB+JPT_6002361_chr21_37012031 2.35e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 283537667 2835447 GMI_AK_SNP_7858088 2.35e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 292708630 2835447 SNP_2214988_chr21_37012031 2.35e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 481555432 2835447 HumanOmni1-Quad_v1-0_C_rs2835447-131_B_F_1863371593 2.35e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 483653230 2835447 HumanOmni2.5-4v1_D_kgp605105-0_B_F_1819832154 2.35e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38090161T>C;NG_029519.1:g.23171T>C;NM_005069.3:c.349-1961T>C;NM_009586.2:c.349-1961T>C 484267490 2835447 HumanOmni2.5-4v1_B_SNP21-37012031-0_B_F_1618923513 2.35e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090311G>T;NG_029519.1:g.23321G>T;NM_005069.3:c.349-1811G>T;NM_009586.2:c.349-1811G>T 341012537 143748258 20100804_snps_12656078_chr21_38090311 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090383G>A;NG_029519.1:g.23393G>A;NM_005069.3:c.349-1739G>A;NM_009586.2:c.349-1739G>A 466052608 186664111 20101123_snps_12219838_chr21_38090383 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38090414_38090415delAT;NG_029519.1:g.23424_23425delAT;NM_005069.3:c.349-1708_349-1707delAT;NM_009586.2:c.349-1708_349-1707delAT 328316693 140795499 YRI_chr21_37012283_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090430C>T;NG_029519.1:g.23440C>T;NM_005069.3:c.349-1692C>T;NM_009586.2:c.349-1692C>T 341012538 147212202 20100804_snps_12656079_chr21_38090430 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090431G>A;NG_029519.1:g.23441G>A;NM_005069.3:c.349-1691G>A;NM_009586.2:c.349-1691G>A 244117285 117359311 pilot_1_CHB+JPT_6002362_chr21_37012301 1.97e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090535C>A;NG_029519.1:g.23545C>A;NM_005069.3:c.349-1587C>A;NM_009586.2:c.349-1587C>A 341012539 138383932 20100804_snps_12656080_chr21_38090535 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38090558C>T;NG_029519.1:g.23568C>T;NM_005069.3:c.349-1564C>T;NM_009586.2:c.349-1564C>T 466052609 191868586 20101123_snps_12219839_chr21_38090558 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38090583T>C;NG_029519.1:g.23593T>C;NM_005069.3:c.349-1539T>C;NM_009586.2:c.349-1539T>C 341012540 79899488 20100804_snps_12656081_chr21_38090583 4.60e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090592A>G;NG_029519.1:g.23602A>G;NM_005069.3:c.349-1530A>G;NM_009586.2:c.349-1530A>G 466052610 183204841 20101123_snps_12219840_chr21_38090592 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38090740G>A;NG_029519.1:g.23750G>A;NM_005069.3:c.349-1382G>A;NM_009586.2:c.349-1382G>A 228558701 78216718 pilot_1_YRI_10368384_chr21_37012610 1.74e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38090848G>A;NG_029519.1:g.23858G>A;NM_005069.3:c.349-1274G>A;NM_009586.2:c.349-1274G>A 466052611 188536398 20101123_snps_12219841_chr21_38090848 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38090853G>T;NG_029519.1:g.23863G>T;NM_005069.3:c.349-1269G>T;NM_009586.2:c.349-1269G>T 341012542 148441780 20100804_snps_12656083_chr21_38090853 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38090885C>T;NG_029519.1:g.23895C>T;NM_005069.3:c.349-1237C>T;NM_009586.2:c.349-1237C>T 168000797 74887668 NA07022_36_chr21_37012755 2.20e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090885C>T;NG_029519.1:g.23895C>T;NM_005069.3:c.349-1237C>T;NM_009586.2:c.349-1237C>T 237978065 74887668 pilot_1_CEU_7582694_chr21_37012755 2.20e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38090898C>T;NG_029519.1:g.23908C>T;NM_005069.3:c.349-1224C>T;NM_009586.2:c.349-1224C>T 466052612 193118508 20101123_snps_12219842_chr21_38090898 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38090969_38090970insT;NG_029519.1:g.23979_23980insT;NM_005069.3:c.349-1153_349-1152insT;NM_009586.2:c.349-1153_349-1152insT 41460192 35378379 hCV33801745 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 92548 743428 TSC0115560 3.83e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 6651732 743428 NT_011512.7_23751444 3.83e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 14433320 743428 chr21.NT_011512.9_23751404 3.83e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 44277293 743428 hCV599940 3.83e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 66114055 743428 SNP_A-2018910 3.83e-01 2006.10.27 2007.08.14 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 76098390 743428 AFFY_6_1M_SNP_A-2018910 3.83e-01 2007.08.30 2010.03.07 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 81435775 743428 KHS61960 3.83e-01 2007.11.30 2007.11.30 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 91834669 743428 JWB-1494567 3.83e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 103822058 743428 BGI_rs743428 3.83e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 112461681 743428 CEU.trio.12.15.2008_3763642_chr21_37012878 3.83e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 113877077 743428 NA19240_2008_12_16_3401860_chr21_37012878 3.83e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 117520771 743428 NA18507_000036536_NCBI36.1_chr21_37012878 3.83e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 138314873 743428 ENSSNP11885107 3.83e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 156891551 743428 GMI_SNP_72507829 3.83e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 168000807 743428 NA07022_36_chr21_37012878 3.83e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 169456370 743428 NA19240_36_chr21_37012878 3.83e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 172013960 743428 NA20431_36_chr21_37012878 3.83e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 172498279 743428 GenomeWideSNP_5_SNP_A-2018910 3.83e-01 2009.10.02 2009.10.02 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 204013961 743428 BUSHMAN-chr21-37012877 3.83e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 208796801 743428 BCM_CMT_1011-3252234 3.83e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 228558703 743428 pilot_1_YRI_10368386_chr21_37012878 3.83e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 237978066 743428 pilot_1_CEU_7582695_chr21_37012878 3.83e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 244117286 743428 pilot_1_CHB+JPT_6002363_chr21_37012878 3.83e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 255945835 743428 SNP32845_21_37012878 3.83e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 283537668 743428 GMI_AK_SNP_7858089 3.83e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38091008T>A;NG_029519.1:g.24018T>A;NM_005069.3:c.349-1114T>A;NM_009586.2:c.349-1114T>A 292708631 743428 SNP_2214989_chr21_37012878 3.83e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091042C>A;NG_029519.1:g.24052C>A;NM_005069.3:c.349-1080C>A;NM_009586.2:c.349-1080C>A 466052613 184976977 20101123_snps_12219843_chr21_38091042 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091085C>T;NG_029519.1:g.24095C>T;NM_005069.3:c.349-1037C>T;NM_009586.2:c.349-1037C>T 228558704 75129166 pilot_1_YRI_10368387_chr21_37012955 1.69e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38091147G>C;NG_029519.1:g.24157G>C;NM_005069.3:c.349-975G>C;NM_009586.2:c.349-975G>C 466052614 189352419 20101123_snps_12219844_chr21_38091147 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091197G>T;NG_029519.1:g.24207G>T;NM_005069.3:c.349-925G>T;NM_009586.2:c.349-925G>T 341012543 142554258 20100804_snps_12656084_chr21_38091197 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091214A>C;NG_029519.1:g.24224A>C;NM_005069.3:c.349-908A>C;NM_009586.2:c.349-908A>C 341012544 146368997 20100804_snps_12656085_chr21_38091214 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091229C>T;NG_029519.1:g.24239C>T;NM_005069.3:c.349-893C>T;NM_009586.2:c.349-893C>T 237978067 118097811 pilot_1_CEU_7582696_chr21_37013099 2.29e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091259T>G;NG_029519.1:g.24269T>G;NM_005069.3:c.349-863T>G;NM_009586.2:c.349-863T>G 341012545 139663324 20100804_snps_12656086_chr21_38091259 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091360G>A;NG_029519.1:g.24370G>A;NM_005069.3:c.349-762G>A;NM_009586.2:c.349-762G>A 237978068 75108493 pilot_1_CEU_7582697_chr21_37013230 3.07e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 78261 732638 TSC0021934 3.04e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 4029239 732638 AP000697.1_92653 3.04e-01 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 5463618 732638 TSC0200508 3.04e-01 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 6252801 732638 NT_011512.6_23668935 3.04e-01 2003.01.13 2003.10.10 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 44253726 732638 hCV599941 3.04e-01 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 91834670 732638 JWB-1494568 3.04e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 112461685 732638 CEU.trio.12.15.2008_3763643_chr21_37013401 3.04e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 113877082 732638 NA19240_2008_12_16_3401861_chr21_37013401 3.04e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 117520773 732638 NA18507_000036537_NCBI36.1_chr21_37013401 3.04e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 138314874 732638 ENSSNP5954233 3.04e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 156891557 732638 GMI_SNP_38008978 3.04e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 168000822 732638 NA07022_36_chr21_37013401 3.04e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 169456385 732638 NA19240_36_chr21_37013401 3.04e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 172013968 732638 NA20431_36_chr21_37013401 3.04e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 204013962 732638 BUSHMAN-chr21-37013400 3.04e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 208803132 732638 BCM_CMT_1011-3258565 3.04e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 228558706 732638 pilot_1_YRI_10368389_chr21_37013401 3.04e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 237978069 732638 pilot_1_CEU_7582698_chr21_37013401 3.04e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 244117288 732638 pilot_1_CHB+JPT_6002365_chr21_37013401 3.04e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 255945845 732638 SNP32846_21_37013401 3.04e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38091531T>C;NG_029519.1:g.24541T>C;NM_005069.3:c.349-591T>C;NM_009586.2:c.349-591T>C 283537669 732638 GMI_AK_SNP_7858090 3.04e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091577C>T;NG_029519.1:g.24587C>T;NM_005069.3:c.349-545C>T;NM_009586.2:c.349-545C>T 466052615 192354241 20101123_snps_12219845_chr21_38091577 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091626G>A;NG_029519.1:g.24636G>A;NM_005069.3:c.349-496G>A;NM_009586.2:c.349-496G>A 341012546 144507403 20100804_snps_12656087_chr21_38091626 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091628C>T;NG_029519.1:g.24638C>T;NM_005069.3:c.349-494C>T;NM_009586.2:c.349-494C>T 341012547 146623315 20100804_snps_12656088_chr21_38091628 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 21827491 13050963 WGSA-200403-chr21.chr21.NT_011512.9_23752039 5.22e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 44272818 13050963 hCV2990382 5.22e-02 2005.07.18 2006.11.03 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 67054394 13050963 HumanHap550v1.1_rs13050963 5.22e-02 2006.11.14 2006.11.14 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 67381095 13050963 HumanHap650Yv1.0_rs13050963 5.22e-02 2006.11.14 2006.11.14 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 68143899 13050963 HumanHap250Sv1.0_rs13050963 5.22e-02 2006.12.06 2006.12.07 2004.04.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 69253510 13050963 PGP06089210 5.22e-02 2007.01.30 2008.03.31 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 70592575 13050963 HumanHap550v3.0__rs13050963 5.22e-02 2007.04.20 2008.03.30 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 71136470 13050963 HumanHap650Yv3.0_rs13050963 5.22e-02 2007.04.23 2007.04.23 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 75559741 13050963 ILMN_Human_1M_rs13050963 5.22e-02 2007.08.29 2007.08.29 2004.04.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 85296004 13050963 KHS953193 5.22e-02 2007.12.08 2007.12.08 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 96168124 13050963 1103643115880 5.22e-02 2008.03.25 2008.03.25 2004.04.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 133094334 13050963 ENSSNP1974381 5.22e-02 2009.05.12 2009.10.15 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 153312344 13050963 Human610_Quadv1_B_rs13050963-126_T_R_1502127414 5.22e-02 2009.06.18 2009.06.19 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 159243275 13050963 Human660W-Quad_v1_A_rs13050963-126_T_R_1502127414 5.22e-02 2009.07.06 2009.07.06 2004.04.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 172312739 13050963 Human1M-Duov3_B_rs13050963-126_T_R_1502127414 5.22e-02 2009.10.02 2009.10.02 2004.04.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 237978070 13050963 pilot_1_CEU_7582699_chr21_37013513 5.22e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38091643C>T;NG_029519.1:g.24653C>T;NM_005069.3:c.349-479C>T;NM_009586.2:c.349-479C>T 292708632 13050963 SNP_2214990_chr21_37013513 5.22e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38091657C>T;NG_029519.1:g.24667C>T;NM_005069.3:c.349-465C>T;NM_009586.2:c.349-465C>T 237978071 116908476 pilot_1_CEU_7582700_chr21_37013527 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38091683G>C;NG_029519.1:g.24693G>C;NM_005069.3:c.349-439G>C;NM_009586.2:c.349-439G>C 83605096 61531418 Cor18555_SNV_20070510.chr21_37013553 2007.12.05 2007.12.05 2007.12.16 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38091684C>T;NG_029519.1:g.24694C>T;NM_005069.3:c.349-438C>T;NM_009586.2:c.349-438C>T 341012548 141091960 20100804_snps_12656089_chr21_38091684 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091689T>C;NG_029519.1:g.24699T>C;NM_005069.3:c.349-433T>C;NM_009586.2:c.349-433T>C 237978072 117265851 pilot_1_CEU_7582701_chr21_37013559 6.40e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091742A>T;NG_029519.1:g.24752A>T;NM_005069.3:c.349-380A>T;NM_009586.2:c.349-380A>T 466052616 183703389 20101123_snps_12219846_chr21_38091742 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091767G>A;NG_029519.1:g.24777G>A;NM_005069.3:c.349-355G>A;NM_009586.2:c.349-355G>A 341012549 149783871 20100804_snps_12656090_chr21_38091767 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38091768G>A;NG_029519.1:g.24778G>A;NM_005069.3:c.349-354G>A;NM_009586.2:c.349-354G>A 466052617 188076623 20101123_snps_12219847_chr21_38091768 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091818G>A;NG_029519.1:g.24828G>A;NM_005069.3:c.349-304G>A;NM_009586.2:c.349-304G>A 466052618 181422248 20101123_snps_12219848_chr21_38091818 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091821G>A;NG_029519.1:g.24831G>A;NM_005069.3:c.349-301G>A;NM_009586.2:c.349-301G>A 341012550 145699303 20100804_snps_12656091_chr21_38091821 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38091958G>C;NG_029519.1:g.24968G>C;NM_005069.3:c.349-164G>C;NM_009586.2:c.349-164G>C 204013963 112632677 BUSHMAN-chr21-37013827 1.79e-02 2010.03.10 2010.03.10 2010.07.04 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091958G>C;NG_029519.1:g.24968G>C;NM_005069.3:c.349-164G>C;NM_009586.2:c.349-164G>C 466052619 112632677 20101123_snps_12219849_chr21_38091958 1.79e-02 2011.07.20 2011.07.20 2010.07.04 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38091981G>A;NG_029519.1:g.24991G>A;NM_005069.3:c.349-141G>A;NM_009586.2:c.349-141G>A 228558707 116588568 pilot_1_YRI_10368390_chr21_37013851 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091981G>A;NG_029519.1:g.24991G>A;NM_005069.3:c.349-141G>A;NM_009586.2:c.349-141G>A 480259191 116588568 HumanOmni2.5-4v1_D_kgp13156047-0_B_R_1825903811 2.70e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38091981G>A;NG_029519.1:g.24991G>A;NM_005069.3:c.349-141G>A;NM_009586.2:c.349-141G>A 484267492 116588568 HumanOmni2.5-4v1_B_SNP21-37013851-0_B_R_1636081199 2.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 2983955 2070650 IMS-JST005579 4.79e-01 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 3185782 2070650 SNP000571366 4.79e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 4035528 2070650 AP001726.1_277468 4.79e-01 2001.09.26 2006.10.25 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 44277986 2070650 hCV16106279 4.79e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 65758254 2070650 Human1-rs2070650 4.79e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 66675569 2070650 HumanHap300v1.1_rs2070650 4.79e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 67221951 2070650 HumanHap550v1.1_rs2070650 4.79e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 67616377 2070650 HumanHap650Yv1.0_rs2070650 4.79e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 69253511 2070650 PGP04856577 4.79e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 70700241 2070650 HumanHap550v3.0__rs2070650 4.79e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 71266271 2070650 HumanHap650Yv3.0_rs2070650 4.79e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 75602738 2070650 ILMN_Human_1M_rs2070650 4.79e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 79112224 2070650 HumanHap300v2.0_rs2070650 4.79e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 83460596 2070650 Cor18555_SNV_20070510.chr21_37013909 4.79e-01 2007.12.05 2007.12.05 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 83964212 2070650 KHS586074 4.79e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 91834672 2070650 JWB-1494569 4.79e-01 2008.03.02 2008.03.02 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 103822060 2070650 BGI_rs2070650 4.79e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 112461689 2070650 CEU.trio.12.15.2008_3763644_chr21_37013909 4.79e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 117520775 2070650 NA18507_000036538_NCBI36.1_chr21_37013909 4.79e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 121907862 2070650 HumanCNV370v1_C_rs2070650 4.79e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 138314875 2070650 ENSSNP5662805 4.79e-01 2009.05.17 2009.05.17 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 153843169 2070650 Human610_Quadv1_B_rs2070650-128_T_F_1501706814 4.79e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 159355793 2070650 Human660W-Quad_v1_A_rs2070650-128_T_F_1501706814 4.79e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 160497632 2070650 HumanOmni1-Quad_v1-0_B_rs2070650-128_T_F_1501706814 4.79e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 168000829 2070650 NA07022_36_chr21_37013909 4.79e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 169456401 2070650 NA19240_36_chr21_37013909 4.79e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 170996662 2070650 HumanCNV370-Quadv3_C_rs2070650-128_T_F_1501706814 4.79e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 172013976 2070650 NA20431_36_chr21_37013909 4.79e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 173095218 2070650 Human1M-Duov3_B_rs2070650-128_T_F_1501706814 4.79e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 204013964 2070650 BUSHMAN-chr21-37013908 4.79e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 208802316 2070650 BCM_CMT_1011-3257749 4.79e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 209087616 2070650 ALS_iSelect_272541_A_rs2070650-127_T_F_IFB1223196104 4.79e-01 2010.03.24 2010.03.24 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 212084209 2070650 YRI.trio.3.2010_1500828_chr21_37013909 4.79e-01 2010.03.31 2010.03.31 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 228558708 2070650 pilot_1_YRI_10368391_chr21_37013909 4.79e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 237978073 2070650 pilot_1_CEU_7582702_chr21_37013909 4.79e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 244117289 2070650 pilot_1_CHB+JPT_6002366_chr21_37013909 4.79e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 283537670 2070650 GMI_AK_SNP_7858091 4.79e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 292708633 2070650 SNP_2214991_chr21_37013909 4.79e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 480409606 2070650 HumanOmni2.5-4v1_B_rs2070650-128_T_F_1773353650 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 480422907 2070650 HumanOmniExpress-12v1_C_rs2070650-131_T_F_1857104380 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 481205191 2070650 HumanOmni1-Quad_v1-0_C_rs2070650-131_T_F_1865640657 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092039A>C;NG_029519.1:g.25049A>C;NM_005069.3:c.349-83A>C;NM_009586.2:c.349-83A>C 485002341 2070650 HumanOmni2.5-4v1_D_rs2070650-131_T_F_1857104380 4.79e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092071C>T;NG_029519.1:g.25081C>T;NM_005069.3:c.349-51C>T;NM_009586.2:c.349-51C>T 341012551 148964523 20100804_snps_12656092_chr21_38092071 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38092072G>A;NG_029519.1:g.25082G>A;NM_005069.3:c.349-50G>A;NM_009586.2:c.349-50G>A 204013965 79727992 BUSHMAN-chr21-37013941 2.15e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092072G>A;NG_029519.1:g.25082G>A;NM_005069.3:c.349-50G>A;NM_009586.2:c.349-50G>A 237978074 79727992 pilot_1_CEU_7582703_chr21_37013942 2.15e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092072G>A;NG_029519.1:g.25082G>A;NM_005069.3:c.349-50G>A;NM_009586.2:c.349-50G>A 491184252 79727992 20110521_exome_692050_chr21_38092072 2.15e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38092093G>A;NG_029519.1:g.25103G>A;NM_005069.3:c.349-29G>A;NM_009586.2:c.349-29G>A 283537671 201766206 GMI_AK_SNP_7858092 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 EXOME_CHIP 6493 NC_000021.8:g.38092123T>G;NG_029519.1:g.25133T>G;NM_005069.3:c.350T>G;NM_009586.2:c.350T>G;NP_005060.1:p.Val117Gly;NP_033664.2:p.Val117Gly 491565614 201508401 splice_281840_chr_21_38092123 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38092160T>C;NG_029519.1:g.25170T>C;NM_005069.3:c.387T>C;NM_009586.2:c.387T>C;NP_005060.1:p.His129=;NP_033664.2:p.His129= 341012552 147054081 20100804_snps_12656093_chr21_38092160 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38092160T>C;NG_029519.1:g.25170T>C;NM_005069.3:c.387T>C;NM_009586.2:c.387T>C;NP_005060.1:p.His129=;NP_033664.2:p.His129= 342531770 147054081 ESP2500-chr21-38092160 1.80e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092160T>C;NG_029519.1:g.25170T>C;NM_005069.3:c.387T>C;NM_009586.2:c.387T>C;NP_005060.1:p.His129=;NP_033664.2:p.His129= 491184253 147054081 20110521_exome_692051_chr21_38092160 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38092160T>C;NG_029519.1:g.25170T>C;NM_005069.3:c.387T>C;NM_009586.2:c.387T>C;NP_005060.1:p.His129=;NP_033664.2:p.His129= 491815744 147054081 SNV-chr21-37014030 1.80e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 23802450 16994404 afd0075615 3.30e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 APPLERA_GI 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 48404088 16994404 hCV25982550 3.30e-02 2005.11.30 2006.11.03 2004.09.20 2012.11.28 137 AFFY 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 76711797 16994404 AFFY_6_1M_SNP_A-8573162 3.30e-02 2007.08.30 2007.08.30 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 105087882 16994404 KHS1480205 3.30e-02 2008.07.11 2008.07.11 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 113877092 16994404 NA19240_2008_12_16_3401862_chr21_37014042 3.30e-02 2008.12.18 2008.12.18 2004.09.20 2012.11.28 137 SEATTLESEQ 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 159743272 16994404 SIM2-37014042 3.30e-02 2009.07.10 2009.07.10 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 169456417 16994404 NA19240_36_chr21_37014042 3.30e-02 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 228558709 16994404 pilot_1_YRI_10368392_chr21_37014042 3.30e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 342531771 16994404 ESP2500-chr21-38092172 3.30e-02 2011.03.27 2011.03.27 2004.09.20 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 480256149 16994404 HumanOmni2.5-4v1_D_kgp13143770-0_B_F_1825879257 3.30e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 484267494 16994404 HumanOmni2.5-4v1_B_SNP21-37014042-0_B_F_1624812193 3.30e-02 2012.02.03 2012.02.03 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092172C>T;NG_029519.1:g.25182C>T;NM_005069.3:c.399C>T;NM_009586.2:c.399C>T;NP_005060.1:p.His133=;NP_033664.2:p.His133= 491184254 16994404 20110521_exome_692052_chr21_38092172 3.30e-02 2012.02.22 2012.02.22 2004.09.20 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38092173G>A;NG_029519.1:g.25183G>A;NM_005069.3:c.400G>A;NM_009586.2:c.400G>A;NP_005060.1:p.Asp134Asn;NP_033664.2:p.Asp134Asn 342531772 149282278 ESP2500-chr21-38092173 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38092173G>A;NG_029519.1:g.25183G>A;NM_005069.3:c.400G>A;NM_009586.2:c.400G>A;NP_005060.1:p.Asp134Asn;NP_033664.2:p.Asp134Asn 491565615 149282278 nonsyn_281841_chr_21_38092173 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38092175T>A;NG_029519.1:g.25185T>A;NM_005069.3:c.402T>A;NM_009586.2:c.402T>A;NP_005060.1:p.Asp134Glu;NP_033664.2:p.Asp134Glu 342531773 143502924 ESP2500-chr21-38092175 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38092179A>G;NG_029519.1:g.25189A>G;NM_005069.3:c.406A>G;NM_009586.2:c.406A>G;NP_005060.1:p.Met136Val;NP_033664.2:p.Met136Val 342531774 137857829 ESP2500-chr21-38092179 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38092195C>T;NG_029519.1:g.25205C>T;NM_005069.3:c.422C>T;NM_009586.2:c.422C>T;NP_005060.1:p.Thr141Met;NP_033664.2:p.Thr141Met 342531775 142378405 ESP2500-chr21-38092195 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092195C>T;NG_029519.1:g.25205C>T;NM_005069.3:c.422C>T;NM_009586.2:c.422C>T;NP_005060.1:p.Thr141Met;NP_033664.2:p.Thr141Met 466052620 142378405 20101123_snps_12219850_chr21_38092195 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092195C>T;NG_029519.1:g.25205C>T;NM_005069.3:c.422C>T;NM_009586.2:c.422C>T;NP_005060.1:p.Thr141Met;NP_033664.2:p.Thr141Met 491184255 142378405 20110521_exome_692053_chr21_38092195 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38092195C>T;NG_029519.1:g.25205C>T;NM_005069.3:c.422C>T;NM_009586.2:c.422C>T;NP_005060.1:p.Thr141Met;NP_033664.2:p.Thr141Met 491565616 142378405 nonsyn_281842_chr_21_38092195 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38092195C>T;NG_029519.1:g.25205C>T;NM_005069.3:c.422C>T;NM_009586.2:c.422C>T;NP_005060.1:p.Thr141Met;NP_033664.2:p.Thr141Met 491815745 142378405 SNV-chr21-37014065 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092196G>A;NG_029519.1:g.25206G>A;NM_005069.3:c.423G>A;NM_009586.2:c.423G>A;NP_005060.1:p.Thr141=;NP_033664.2:p.Thr141= 341012553 138136486 20100804_snps_12656094_chr21_38092196 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092196G>A;NG_029519.1:g.25206G>A;NM_005069.3:c.423G>A;NM_009586.2:c.423G>A;NP_005060.1:p.Thr141=;NP_033664.2:p.Thr141= 491184256 138136486 20110521_exome_692054_chr21_38092196 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092201A>C;NC_000021.8:g.38092201A>G;NG_029519.1:g.25211A>C;NG_029519.1:g.25211A>G;NM_005069.3:c.428A>C;NM_005069.3:c.428A>G;NM_009586.2:c.428A>C;NM_009586.2:c.428A>G;NP_005060.1:p.His143Arg;NP_005060.1:p.His143Pro;NP_033664.2:p.His143Arg;NP_033664.2:p.His143Pro 489203513 201841801 20110521_exome_275041_chr21_38092201 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38092201A>C;NC_000021.8:g.38092201A>G;NG_029519.1:g.25211A>C;NG_029519.1:g.25211A>G;NM_005069.3:c.428A>C;NM_005069.3:c.428A>G;NM_009586.2:c.428A>C;NM_009586.2:c.428A>G;NP_005060.1:p.His143Arg;NP_005060.1:p.His143Pro;NP_033664.2:p.His143Arg;NP_033664.2:p.His143Pro 491565617 201841801 nonsyn_281843_chr_21_38092201 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38092201A>C;NC_000021.8:g.38092201A>G;NG_029519.1:g.25211A>C;NG_029519.1:g.25211A>G;NM_005069.3:c.428A>C;NM_005069.3:c.428A>G;NM_009586.2:c.428A>C;NM_009586.2:c.428A>G;NP_005060.1:p.His143Arg;NP_005060.1:p.His143Pro;NP_033664.2:p.His143Arg;NP_033664.2:p.His143Pro 491815746 201841801 SNV-chr21-37014071 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38092214C>T;NG_029519.1:g.25224C>T;NM_005069.3:c.441C>T;NM_009586.2:c.441C>T;NP_005060.1:p.His147=;NP_033664.2:p.His147= 342531776 146384494 ESP2500-chr21-38092214 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GMI 6493 NC_000021.8:g.38092248delA;NG_029519.1:g.25258delA;NM_005069.3:c.457+18delA;NM_009586.2:c.457+18delA 288549455 145363163 GMI_NA10851_INDEL_308460 2010.12.22 2010.12.22 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38092248A>G;NG_029519.1:g.25258A>G;NM_005069.3:c.457+18A>G;NM_009586.2:c.457+18A>G 489203515 200862291 20110521_exome_275042_chr21_38092248 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38092258A>C;NG_029519.1:g.25268A>C;NM_005069.3:c.457+28A>C;NM_009586.2:c.457+28A>C 138314876 77335240 ENSSNP11885110 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38092259C>A;NG_029519.1:g.25269C>A;NM_005069.3:c.457+29C>A;NM_009586.2:c.457+29C>A 138314877 78455239 ENSSNP11885111 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38092275C>T;NG_029519.1:g.25285C>T;NM_005069.3:c.457+45C>T;NM_009586.2:c.457+45C>T 489203517 199953618 20110521_exome_275043_chr21_38092275 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092312C>T;NG_029519.1:g.25322C>T;NM_005069.3:c.457+82C>T;NM_009586.2:c.457+82C>T 228558710 115685897 pilot_1_YRI_10368393_chr21_37014182 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38092329G>A;NG_029519.1:g.25339G>A;NM_005069.3:c.457+99G>A;NM_009586.2:c.457+99G>A 138314878 79022672 ENSSNP11885112 8.20e-03 2009.05.17 2009.05.17 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092329G>A;NG_029519.1:g.25339G>A;NM_005069.3:c.457+99G>A;NM_009586.2:c.457+99G>A 228558711 79022672 pilot_1_YRI_10368394_chr21_37014199 8.20e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38092399T>C;NG_029519.1:g.25409T>C;NM_005069.3:c.457+169T>C;NM_009586.2:c.457+169T>C 23802451 16994405 afd0075616 5.00e-03 2004.08.20 2004.08.20 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092399T>C;NG_029519.1:g.25409T>C;NM_005069.3:c.457+169T>C;NM_009586.2:c.457+169T>C 228558712 16994405 pilot_1_YRI_10368395_chr21_37014269 5.00e-03 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092549T>G;NG_029519.1:g.25559T>G;NM_005069.3:c.457+319T>G;NM_009586.2:c.457+319T>G 466052621 181934279 20101123_snps_12219851_chr21_38092549 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38092578C>T;NG_029519.1:g.25588C>T;NM_005069.3:c.457+348C>T;NM_009586.2:c.457+348C>T 341012556 148283886 20100804_snps_12656097_chr21_38092578 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38092591C>T;NG_029519.1:g.25601C>T;NM_005069.3:c.457+361C>T;NM_009586.2:c.457+361C>T 341012557 141346642 20100804_snps_12656098_chr21_38092591 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 2914825 2000548 TSC0919113 3.06e-01 2001.01.03 2004.04.07 2001.01.12 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 4015116 2000548 P00222552 3.06e-01 2001.09.26 2004.04.07 2001.01.12 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 24219669 2000548 afd0075618 3.06e-01 2004.08.21 2004.09.13 2001.01.12 2012.11.28 137 ABI 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 44263431 2000548 hCV11960075 3.06e-01 2005.07.18 2006.11.03 2001.01.12 2012.11.28 137 AFFY 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 66008524 2000548 SNP_A-1642330 3.06e-01 2006.10.26 2006.10.26 2001.01.12 2012.11.28 137 HGSV 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 83574671 2000548 Cor18555_SNV_20070510.chr21_37014570 3.06e-01 2007.12.05 2007.12.05 2001.01.12 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 91834674 2000548 JWB-1494570 3.06e-01 2008.03.02 2008.03.02 2001.01.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 103822062 2000548 BGI_rs2000548 3.06e-01 2008.06.07 2009.06.18 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 112461693 2000548 CEU.trio.12.15.2008_3763645_chr21_37014570 3.06e-01 2008.12.17 2008.12.17 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 113877098 2000548 NA19240_2008_12_16_3401863_chr21_37014570 3.06e-01 2008.12.18 2008.12.18 2001.01.12 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 117520776 2000548 NA18507_000036539_NCBI36.1_chr21_37014570 3.06e-01 2009.01.19 2009.01.19 2001.01.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 138314879 2000548 ENSSNP11885113 3.06e-01 2009.05.17 2009.05.17 2001.01.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 156891563 2000548 GMI_SNP_133813322 3.06e-01 2009.06.25 2009.06.25 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 160486972 2000548 HumanOmni1-Quad_v1-0_B_rs2000548-128_B_F_1569292805 3.06e-01 2009.08.06 2009.10.02 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 168000848 2000548 NA07022_36_chr21_37014570 3.06e-01 2009.09.30 2009.09.30 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 169456432 2000548 NA19240_36_chr21_37014570 3.06e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 204013966 2000548 BUSHMAN-chr21-37014569 3.06e-01 2010.03.10 2010.03.10 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 228558713 2000548 pilot_1_YRI_10368396_chr21_37014570 3.06e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 237978075 2000548 pilot_1_CEU_7582704_chr21_37014570 3.06e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 244117290 2000548 pilot_1_CHB+JPT_6002367_chr21_37014570 3.06e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 255945851 2000548 SNP32847_21_37014570 3.06e-01 2010.08.20 2010.08.20 2001.01.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 283537672 2000548 GMI_AK_SNP_7858093 3.06e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 480376456 2000548 HumanOmni2.5-4v1_B_rs2000548-128_B_F_1569292805 3.06e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 480388854 2000548 HumanOmniExpress-12v1_C_rs2000548-131_B_F_1858046333 3.06e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 481163336 2000548 HumanOmni1-Quad_v1-0_C_rs2000548-131_B_F_1865584204 3.06e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38092700T>C;NG_029519.1:g.25710T>C;NM_005069.3:c.457+470T>C;NM_009586.2:c.457+470T>C 484985807 2000548 HumanOmni2.5-4v1_D_rs2000548-131_B_F_1858046333 3.06e-01 2012.02.04 2012.02.04 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092733T>C;NG_029519.1:g.25743T>C;NM_005069.3:c.457+503T>C;NM_009586.2:c.457+503T>C 341012558 150727511 20100804_snps_12656099_chr21_38092733 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38092833C>T;NG_029519.1:g.25843C>T;NM_005069.3:c.457+603C>T;NM_009586.2:c.457+603C>T 341012559 77207090 20100804_snps_12656100_chr21_38092833 9.00e-04 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38092857T>C;NG_029519.1:g.25867T>C;NM_005069.3:c.457+627T>C;NM_009586.2:c.457+627T>C 172013982 112519863 NA20431_36_chr21_37014727 8.70e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092857T>C;NG_029519.1:g.25867T>C;NM_005069.3:c.457+627T>C;NM_009586.2:c.457+627T>C 341012560 112519863 20100804_snps_12656101_chr21_38092857 8.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092886G>A;NG_029519.1:g.25896G>A;NM_005069.3:c.457+656G>A;NM_009586.2:c.457+656G>A 341012562 139703009 20100804_snps_12656103_chr21_38092886 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6493 NC_000021.8:g.38092919T>G;NG_029519.1:g.25929T>G;NM_005069.3:c.457+689T>G;NM_009586.2:c.457+689T>G 23802452 17461385 afd0075620 1.83e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38092919T>G;NG_029519.1:g.25929T>G;NM_005069.3:c.457+689T>G;NM_009586.2:c.457+689T>G 117520779 17461385 NA18507_000036540_NCBI36.1_chr21_37014789 1.83e-02 2009.01.19 2009.01.19 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092919T>G;NG_029519.1:g.25929T>G;NM_005069.3:c.457+689T>G;NM_009586.2:c.457+689T>G 228558714 17461385 pilot_1_YRI_10368397_chr21_37014789 1.83e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38092924A>G;NG_029519.1:g.25934A>G;NM_005069.3:c.457+694A>G;NM_009586.2:c.457+694A>G 341012563 144440528 20100804_snps_12656104_chr21_38092924 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38093066A>T;NG_029519.1:g.26076A>T;NM_005069.3:c.457+836A>T;NM_009586.2:c.457+836A>T 466052622 185937464 20101123_snps_12219852_chr21_38093066 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 4015117 2246739 P00222555 4.46e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 4029240 2246739 AP000697.1_94193 4.46e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 6651733 2246739 NT_011512.7_23753507 4.46e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 16335127 2246739 PS00075621 4.46e-01 2003.11.25 2004.04.07 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 23802453 2246739 afd0075621 4.46e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 44259394 2246739 hCV15820842 4.46e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 66351229 2246739 SNP_A-1970250 4.46e-01 2006.10.29 2007.08.14 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 76063026 2246739 AFFY_6_1M_SNP_A-1970250 4.46e-01 2007.08.29 2010.03.07 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 80457133 2246739 Cor18507_SNV_20070510.chr21_37014941 4.46e-01 2007.11.25 2007.11.25 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 81737028 2246739 KHS132800 4.46e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 84758535 2246739 Cor19240_SNV_20070510.chr21_37014941 4.46e-01 2007.12.07 2007.12.07 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 103822065 2246739 BGI_rs2246739 4.46e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 112461697 2246739 CEU.trio.12.15.2008_3763646_chr21_37014941 4.46e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 113877110 2246739 NA19240_2008_12_16_3401864_chr21_37014941 4.46e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 117520781 2246739 NA18507_000036541_NCBI36.1_chr21_37014941 4.46e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 138314880 2246739 ENSSNP11885114 4.46e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 156891570 2246739 GMI_SNP_100165343 4.46e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 168000859 2246739 NA07022_36_chr21_37014941 4.46e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 169456448 2246739 NA19240_36_chr21_37014941 4.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 172368950 2246739 GenomeWideSNP_5_SNP_A-1970250 4.46e-01 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 204013967 2246739 BUSHMAN-chr21-37014940 4.46e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 208788526 2246739 BCM_CMT_1011-3243959 4.46e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 228558715 2246739 pilot_1_YRI_10368398_chr21_37014941 4.46e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 237978076 2246739 pilot_1_CEU_7582705_chr21_37014941 4.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 244117291 2246739 pilot_1_CHB+JPT_6002368_chr21_37014941 4.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 283537673 2246739 GMI_AK_SNP_7858094 4.46e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38093071T>C;NG_029519.1:g.26081T>C;NM_005069.3:c.457+841T>C;NM_009586.2:c.457+841T>C 292708634 2246739 SNP_2214992_chr21_37014941 4.46e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093110G>A;NG_029519.1:g.26120G>A;NM_005069.3:c.457+880G>A;NM_009586.2:c.457+880G>A 466052623 191100362 20101123_snps_12219853_chr21_38093110 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38093156G>T;NG_029519.1:g.26166G>T;NM_005069.3:c.457+926G>T;NM_009586.2:c.457+926G>T 237978077 79242046 pilot_1_CEU_7582706_chr21_37015026 5.50e-03 2010.05.01 2010.05.01 2009.12.01 2011.10.06 137 MPI_MOLGEN 6493 NC_000021.8:g.38093156G>T;NG_029519.1:g.26166G>T;NM_005069.3:c.457+926G>T;NM_009586.2:c.457+926G>T 469266697 79242046 Chromosome21_37015026 5.50e-03 2011.08.15 2011.08.15 2009.12.01 2011.10.06 137 SC_JCM 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 4035529 2850096 AP001726.1_278606 1.46e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 6649256 2850096 NT_011512.7_23753613 1.46e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 14443453 2850096 chr21.NT_011512.9_23753573 1.46e-01 2003.11.07 2006.10.25 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 44253322 2850096 hCV16106286 1.46e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 69253512 2850096 PGP07911900 1.46e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 75049265 2850096 ILMN_Human_1M_rs2850096 1.46e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 78882078 2850096 Cor18507_SNV_20070510.chr21_37015047 1.46e-01 2007.10.21 2007.10.21 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 83137846 2850096 Cor19240_SNV_20070510.chr21_37015047 1.46e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 96168125 2850096 1103643115881 1.46e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 103822067 2850096 BGI_rs2850096 1.46e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 112461701 2850096 CEU.trio.12.15.2008_3763647_chr21_37015047 1.46e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 113877113 2850096 NA19240_2008_12_16_3401865_chr21_37015047 1.46e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 117520783 2850096 NA18507_000036542_NCBI36.1_chr21_37015047 1.46e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 119448083 2850096 KHS1610330 1.46e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 142581873 2850096 ENSSNP3790570 1.46e-01 2009.06.05 2009.10.19 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 156891577 2850096 GMI_SNP_72388794 1.46e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 160589337 2850096 HumanOmni1-Quad_v1-0_B_rs2850096-128_T_F_1514002549 1.46e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 168000876 2850096 NA07022_36_chr21_37015047 1.46e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 169456466 2850096 NA19240_36_chr21_37015047 1.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 172013990 2850096 NA20431_36_chr21_37015047 1.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 173501286 2850096 Human1M-Duov3_B_rs2850096-128_T_F_1514002549 1.46e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 204013968 2850096 BUSHMAN-chr21-37015046 1.46e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 208800877 2850096 BCM_CMT_1011-3256310 1.46e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 228558716 2850096 pilot_1_YRI_10368399_chr21_37015047 1.46e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 237978078 2850096 pilot_1_CEU_7582707_chr21_37015047 1.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 244117292 2850096 pilot_1_CHB+JPT_6002369_chr21_37015047 1.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 255945857 2850096 SNP32848_21_37015047 1.46e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 283537674 2850096 GMI_AK_SNP_7858095 1.46e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 292708635 2850096 SNP_2214993_chr21_37015047 1.46e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 480693081 2850096 HumanOmni2.5-4v1_B_rs2850096-128_T_F_1775058049 1.46e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 480708638 2850096 HumanOmniExpress-12v1_C_rs2850096-131_T_F_1857341743 1.46e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 481571781 2850096 HumanOmni1-Quad_v1-0_C_rs2850096-131_T_F_1865774906 1.46e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38093177A>G;NG_029519.1:g.26187A>G;NM_005069.3:c.457+947A>G;NM_009586.2:c.457+947A>G 485141385 2850096 HumanOmni2.5-4v1_D_rs2850096-131_T_F_1857341743 1.46e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38093336G>A;NG_029519.1:g.26346G>A;NM_005069.3:c.457+1106G>A;NM_009586.2:c.457+1106G>A 466052624 183296012 20101123_snps_12219854_chr21_38093336 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38093629G>A;NG_029519.1:g.26639G>A;NM_005069.3:c.457+1399G>A;NM_009586.2:c.457+1399G>A 341012564 146121771 20100804_snps_12656105_chr21_38093629 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38093658C>T;NG_029519.1:g.26668C>T;NM_005069.3:c.457+1428C>T;NM_009586.2:c.457+1428C>T 466052625 185445440 20101123_snps_12219855_chr21_38093658 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38093790G>A;NG_029519.1:g.26800G>A;NM_005069.3:c.458-1556G>A;NM_009586.2:c.458-1556G>A 466052626 190991067 20101123_snps_12219856_chr21_38093790 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38093872G>C;NG_029519.1:g.26882G>C;NM_005069.3:c.458-1474G>C;NM_009586.2:c.458-1474G>C 341012565 148804239 20100804_snps_12656106_chr21_38093872 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 85257330 59649418 Cor19240_SNV_20070510.chr21_37015817 4.81e-02 2007.12.08 2007.12.08 2007.12.15 2011.09.09 137 HGSV 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 85993761 59649418 Cor19129_SNV_20070510.chr21_37015817 4.81e-02 2007.12.10 2007.12.10 2007.12.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 113877120 59649418 NA19240_2008_12_16_3401866_chr21_37015817 4.81e-02 2008.12.18 2008.12.18 2007.12.15 2011.09.09 137 ILLUMINA-UK 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 117520785 59649418 NA18507_000036543_NCBI36.1_chr21_37015817 4.81e-02 2009.01.19 2009.01.19 2007.12.15 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 169456480 59649418 NA19240_36_chr21_37015817 4.81e-02 2009.10.01 2009.10.01 2007.12.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38093947C>T;NG_029519.1:g.26957C>T;NM_005069.3:c.458-1399C>T;NM_009586.2:c.458-1399C>T 228558717 59649418 pilot_1_YRI_10368400_chr21_37015817 4.81e-02 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38094014G>A;NG_029519.1:g.27024G>A;NM_005069.3:c.458-1332G>A;NM_009586.2:c.458-1332G>A 466052627 183215389 20101123_snps_12219857_chr21_38094014 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094019G>A;NG_029519.1:g.27029G>A;NM_005069.3:c.458-1327G>A;NM_009586.2:c.458-1327G>A 341012566 142450416 20100804_snps_12656107_chr21_38094019 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 3224925 2284985 IMS-JST035009 6.00e-02 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 66644643 2284985 HumanHap300v1.1_rs2284985 6.00e-02 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 67242076 2284985 HumanHap550v1.1_rs2284985 6.00e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 67638840 2284985 HumanHap650Yv1.0_rs2284985 6.00e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 70720423 2284985 HumanHap550v3.0__rs2284985 6.00e-02 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 71288768 2284985 HumanHap650Yv3.0_rs2284985 6.00e-02 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 75496192 2284985 ILMN_Human_1M_rs2284985 6.00e-02 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 79126463 2284985 HumanHap300v2.0_rs2284985 6.00e-02 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 84021205 2284985 KHS604261 6.00e-02 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 121984923 2284985 HumanCNV370v1_C_rs2284985 6.00e-02 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 153899247 2284985 Human610_Quadv1_B_rs2284985-128_B_F_1501719507 6.00e-02 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 159377087 2284985 Human660W-Quad_v1_A_rs2284985-128_B_F_1501719507 6.00e-02 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 160528786 2284985 HumanOmni1-Quad_v1-0_B_rs2284985-128_B_F_1512089201 6.00e-02 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 168000889 2284985 NA07022_36_chr21_37015958 6.00e-02 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 171159228 2284985 HumanCNV370-Quadv3_C_rs2284985-128_B_F_1501719507 6.00e-02 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 173250465 2284985 Human1M-Duov3_B_rs2284985-128_B_F_1501719507 6.00e-02 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 228558718 2284985 pilot_1_YRI_10368401_chr21_37015958 6.00e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 237978079 2284985 pilot_1_CEU_7582708_chr21_37015958 6.00e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 244117293 2284985 pilot_1_CHB+JPT_6002370_chr21_37015958 6.00e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 475855876 2284985 GMI_AK_SNP_8524374 6.00e-02 2011.11.24 2011.11.24 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 480507536 2284985 HumanOmni2.5-4v1_B_rs2284985-128_B_F_1745430982 6.00e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 480521880 2284985 HumanOmniExpress-12v1_C_rs2284985-131_B_F_1857189290 6.00e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 481329561 2284985 HumanOmni1-Quad_v1-0_C_rs2284985-131_B_F_1865601123 6.00e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38094088C>T;NG_029519.1:g.27098C>T;NM_005069.3:c.458-1258C>T;NM_009586.2:c.458-1258C>T 485051222 2284985 HumanOmni2.5-4v1_D_rs2284985-131_B_F_1857189290 6.00e-02 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094091C>T;NG_029519.1:g.27101C>T;NM_005069.3:c.458-1255C>T;NM_009586.2:c.458-1255C>T 466052628 188264524 20101123_snps_12219858_chr21_38094091 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094268G>A;NG_029519.1:g.27278G>A;NM_005069.3:c.458-1078G>A;NM_009586.2:c.458-1078G>A 237978080 76782031 pilot_1_CEU_7582709_chr21_37016138 1.97e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38094341C>T;NG_029519.1:g.27351C>T;NM_005069.3:c.458-1005C>T;NM_009586.2:c.458-1005C>T 466052629 192549979 20101123_snps_12219859_chr21_38094341 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094345G>A;NG_029519.1:g.27355G>A;NM_005069.3:c.458-1001G>A;NM_009586.2:c.458-1001G>A 341012567 151252743 20100804_snps_12656108_chr21_38094345 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38094473C>T;NG_029519.1:g.27483C>T;NM_005069.3:c.458-873C>T;NM_009586.2:c.458-873C>T 341012568 139240466 20100804_snps_12656109_chr21_38094473 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38094496G>A;NG_029519.1:g.27506G>A;NM_005069.3:c.458-850G>A;NM_009586.2:c.458-850G>A 341012569 145456058 20100804_snps_12656110_chr21_38094496 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38094549A>G;NG_029519.1:g.27559A>G;NM_005069.3:c.458-797A>G;NM_009586.2:c.458-797A>G 244117294 117371855 pilot_1_CHB+JPT_6002371_chr21_37016419 2.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38094730G>T;NG_029519.1:g.27740G>T;NM_005069.3:c.458-616G>T;NM_009586.2:c.458-616G>T 466052630 182930686 20101123_snps_12219860_chr21_38094730 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094781G>A;NG_029519.1:g.27791G>A;NM_005069.3:c.458-565G>A;NM_009586.2:c.458-565G>A 466052631 187271080 20101123_snps_12219861_chr21_38094781 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094785G>T;NG_029519.1:g.27795G>T;NM_005069.3:c.458-561G>T;NM_009586.2:c.458-561G>T 466052632 192624915 20101123_snps_12219862_chr21_38094785 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38094922C>T;NG_029519.1:g.27932C>T;NM_005069.3:c.458-424C>T;NM_009586.2:c.458-424C>T 466052633 184655205 20101123_snps_12219863_chr21_38094922 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38094929_38094930insTCCT;NG_029519.1:g.27939_27940insTCCT;NM_005069.3:c.458-417_458-416insTCCT;NM_009586.2:c.458-417_458-416insTCCT 193633790 113288278 BUSHMAN-chr21-37016799-37016799 5.31e-02 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094929_38094930insTCCT;NG_029519.1:g.27939_27940insTCCT;NM_005069.3:c.458-417_458-416insTCCT;NM_009586.2:c.458-417_458-416insTCCT 327986071 113288278 JPTCHB_chr21_37016799_indel 5.31e-02 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094929_38094930insTCCT;NG_029519.1:g.27939_27940insTCCT;NM_005069.3:c.458-417_458-416insTCCT;NM_009586.2:c.458-417_458-416insTCCT 328091394 113288278 CEU_chr21_37016799_indel 5.31e-02 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094929_38094930insTCCT;NG_029519.1:g.27939_27940insTCCT;NM_005069.3:c.458-417_458-416insTCCT;NM_009586.2:c.458-417_458-416insTCCT 328316694 113288278 YRI_chr21_37016799_indel 5.31e-02 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094929_38094930insTCCT;NG_029519.1:g.27939_27940insTCCT;NM_005069.3:c.458-417_458-416insTCCT;NM_009586.2:c.458-417_458-416insTCCT 499804913 113288278 20110316_indels_chr21_38094929_38094930 5.31e-02 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38094935_38094936insCTTC;NG_029519.1:g.27945_27946insCTTC;NM_005069.3:c.458-411_458-410insCTTC;NM_009586.2:c.458-411_458-410insCTTC 41492402 34864681 hCV33801742 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38094962T>C;NG_029519.1:g.27972T>C;NM_005069.3:c.458-384T>C;NM_009586.2:c.458-384T>C 237978082 117664388 pilot_1_CEU_7582711_chr21_37016832 9.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38094993C>G;NG_029519.1:g.28003C>G;NM_005069.3:c.458-353C>G;NM_009586.2:c.458-353C>G 341012570 147683099 20100804_snps_12656111_chr21_38094993 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38095006C>T;NG_029519.1:g.28016C>T;NM_005069.3:c.458-340C>T;NM_009586.2:c.458-340C>T 204013969 113120625 BUSHMAN-chr21-37016875 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38095060C>T;NG_029519.1:g.28070C>T;NM_005069.3:c.458-286C>T;NM_009586.2:c.458-286C>T 204013970 111294382 BUSHMAN-chr21-37016929 3.70e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095060C>T;NG_029519.1:g.28070C>T;NM_005069.3:c.458-286C>T;NM_009586.2:c.458-286C>T 341012571 111294382 20100804_snps_12656112_chr21_38095060 3.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38095163_38095164insC;NG_029519.1:g.28173_28174insC;NM_005069.3:c.458-183_458-182insC;NM_009586.2:c.458-183_458-182insC 41448653 35614137 hCV33801741 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38095279C>T;NG_029519.1:g.28289C>T;NM_005069.3:c.458-67C>T;NM_009586.2:c.458-67C>T 341012572 146057038 20100804_snps_12656113_chr21_38095279 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 6493 NC_000021.8:g.38095332G>C;NG_029519.1:g.28342G>C;NM_005069.3:c.458-14G>C;NM_009586.2:c.458-14G>C 491815747 201642433 SNV-chr21-37017202 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095343C>T;NG_029519.1:g.28353C>T;NM_005069.3:c.458-3C>T;NM_009586.2:c.458-3C>T 341012573 145554528 20100804_snps_12656114_chr21_38095343 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095343C>T;NG_029519.1:g.28353C>T;NM_005069.3:c.458-3C>T;NM_009586.2:c.458-3C>T 491184257 145554528 20110521_exome_692055_chr21_38095343 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095349A>G;NG_029519.1:g.28359A>G;NM_005069.3:c.461A>G;NM_009586.2:c.461A>G;NP_005060.1:p.Tyr154Cys;NP_033664.2:p.Tyr154Cys 489203519 201840539 20110521_exome_275044_chr21_38095349 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38095349A>G;NG_029519.1:g.28359A>G;NM_005069.3:c.461A>G;NM_009586.2:c.461A>G;NP_005060.1:p.Tyr154Cys;NP_033664.2:p.Tyr154Cys 491815748 201840539 SNV-chr21-37017219 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38095382A>G;NG_029519.1:g.28392A>G;NM_005069.3:c.494A>G;NM_009586.2:c.494A>G;NP_005060.1:p.Lys165Arg;NP_033664.2:p.Lys165Arg 491815749 201182592 SNV-chr21-37017252 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38095389C>T;NG_029519.1:g.28399C>T;NM_005069.3:c.501C>T;NM_009586.2:c.501C>T;NP_005060.1:p.Val167=;NP_033664.2:p.Val167= 491815750 202186952 SNV-chr21-37017259 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38095404C>T;NG_029519.1:g.28414C>T;NM_005069.3:c.516C>T;NM_009586.2:c.516C>T;NP_005060.1:p.Asn172=;NP_033664.2:p.Asn172= 342531777 139778934 ESP2500-chr21-38095404 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38095422C>T;NG_029519.1:g.28432C>T;NM_005069.3:c.534C>T;NM_009586.2:c.534C>T;NP_005060.1:p.Ser178=;NP_033664.2:p.Ser178= 489203521 201234631 20110521_exome_275045_chr21_38095422 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38095422C>T;NG_029519.1:g.28432C>T;NM_005069.3:c.534C>T;NM_009586.2:c.534C>T;NP_005060.1:p.Ser178=;NP_033664.2:p.Ser178= 491815751 201234631 SNV-chr21-37017292 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095436G>A;NG_029519.1:g.28446G>A;NM_005069.3:c.543+5G>A;NM_009586.2:c.543+5G>A 489203523 200328458 20110521_exome_275046_chr21_38095436 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38095496G>A;NG_029519.1:g.28506G>A;NM_005069.3:c.543+65G>A;NM_009586.2:c.543+65G>A 212084211 75359419 YRI.trio.3.2010_1500829_chr21_37017366 3.20e-03 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38095496G>A;NG_029519.1:g.28506G>A;NM_005069.3:c.543+65G>A;NM_009586.2:c.543+65G>A 228558719 75359419 pilot_1_YRI_10368402_chr21_37017366 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38095513C>T;NG_029519.1:g.28523C>T;NM_005069.3:c.543+82C>T;NM_009586.2:c.543+82C>T 341012575 143588372 20100804_snps_12656116_chr21_38095513 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38095516G>A;NG_029519.1:g.28526G>A;NM_005069.3:c.543+85G>A;NM_009586.2:c.543+85G>A 466052634 188323907 20101123_snps_12219864_chr21_38095516 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38095540C>G;NG_029519.1:g.28550C>G;NM_005069.3:c.543+109C>G;NM_009586.2:c.543+109C>G 341012576 147982221 20100804_snps_12656117_chr21_38095540 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38095562C>A;NG_029519.1:g.28572C>A;NM_005069.3:c.543+131C>A;NM_009586.2:c.543+131C>A 341012577 142307289 20100804_snps_12656118_chr21_38095562 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38095578T>C;NG_029519.1:g.28588T>C;NM_005069.3:c.543+147T>C;NM_009586.2:c.543+147T>C 228558720 78361542 pilot_1_YRI_10368403_chr21_37017448 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ABI 6493 NC_000021.8:g.38095696_38095697insC;NG_029519.1:g.28706_28707insC;NM_005069.3:c.543+265_543+266insC;NM_009586.2:c.543+265_543+266insC 41486290 35006729 hCV33801740 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 SSAHASNP 6493 NC_000021.8:g.38095717G>T;NG_029519.1:g.28727G>T;NM_005069.3:c.543+286G>T;NM_009586.2:c.543+286G>T 35160709 28424225 TA-079.chr21_37017587 2005.03.11 2005.05.24 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38095829C>T;NG_029519.1:g.28839C>T;NM_005069.3:c.543+398C>T;NM_009586.2:c.543+398C>T 237978083 117057361 pilot_1_CEU_7582712_chr21_37017699 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096121T>G;NG_029519.1:g.29131T>G;NM_005069.3:c.543+690T>G;NM_009586.2:c.543+690T>G 466052635 192714457 20101123_snps_12219865_chr21_38096121 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38096199C>T;NG_029519.1:g.29209C>T;NM_005069.3:c.543+768C>T;NM_009586.2:c.543+768C>T 466052636 184122777 20101123_snps_12219866_chr21_38096199 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 10981720 6517378 chr21.NT_011512.8_23756605 2.63e-01 2003.07.01 2006.10.25 2003.07.11 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 12507264 6517378 chr21.NT_011512.8_23756605 2.63e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 16019405 6517378 NT_011512.9_23756606 2.63e-01 2003.11.18 2003.11.22 2003.07.11 2012.11.28 137 HGSV 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 83933219 6517378 Cor18956_SNV_20070510.chr21_37018080 2.63e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 91834676 6517378 JWB-1494571 2.63e-01 2008.03.02 2008.03.02 2003.07.11 2012.11.28 137 BGI 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 103822069 6517378 BGI_rs6517378 2.63e-01 2008.06.07 2009.06.18 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 112461705 6517378 CEU.trio.12.15.2008_3763648_chr21_37018080 2.63e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 138314881 6517378 ENSSNP11885115 2.63e-01 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 GMI 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 156891586 6517378 GMI_SNP_37997574 2.63e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 168000903 6517378 NA07022_36_chr21_37018080 2.63e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 204013971 6517378 BUSHMAN-chr21-37018079 2.63e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 208801786 6517378 BCM_CMT_1011-3257219 2.63e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 228558721 6517378 pilot_1_YRI_10368404_chr21_37018080 2.63e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 237978084 6517378 pilot_1_CEU_7582713_chr21_37018080 2.63e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 244117295 6517378 pilot_1_CHB+JPT_6002372_chr21_37018080 2.63e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 283537675 6517378 GMI_AK_SNP_7858096 2.63e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6493 NC_000021.8:g.38096210C>T;NG_029519.1:g.29220C>T;NM_005069.3:c.543+779C>T;NM_009586.2:c.543+779C>T 292708636 6517378 SNP_2214994_chr21_37018080 2.63e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096301T>A;NG_029519.1:g.29311T>A;NM_005069.3:c.543+870T>A;NM_009586.2:c.543+870T>A 466052637 189884655 20101123_snps_12219867_chr21_38096301 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38096325C>A;NG_029519.1:g.29335C>A;NM_005069.3:c.543+894C>A;NM_009586.2:c.543+894C>A 466052638 181156888 20101123_snps_12219868_chr21_38096325 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38096382C>G;NG_029519.1:g.29392C>G;NM_005069.3:c.543+951C>G;NM_009586.2:c.543+951C>G 466052639 186184118 20101123_snps_12219869_chr21_38096382 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38096390delC;NG_029519.1:g.29400delC;NM_005069.3:c.543+959delC;NM_009586.2:c.543+959delC 41485791 34312790 hCV33801739 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38096420C>A;NG_029519.1:g.29430C>A;NM_005069.3:c.543+989C>A;NM_009586.2:c.543+989C>A 341012578 144597494 20100804_snps_12656119_chr21_38096420 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096429C>A;NG_029519.1:g.29439C>A;NM_005069.3:c.543+998C>A;NM_009586.2:c.543+998C>A 341012579 138624848 20100804_snps_12656120_chr21_38096429 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096467A>G;NG_029519.1:g.29477A>G;NM_005069.3:c.543+1036A>G;NM_009586.2:c.543+1036A>G 341012580 141610134 20100804_snps_12656121_chr21_38096467 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096639G>A;NG_029519.1:g.29649G>A;NM_005069.3:c.543+1208G>A;NM_009586.2:c.543+1208G>A 341012582 139847491 20100804_snps_12656123_chr21_38096639 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096654A>G;NG_029519.1:g.29664A>G;NM_005069.3:c.543+1223A>G;NM_009586.2:c.543+1223A>G 341012583 149437513 20100804_snps_12656124_chr21_38096654 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096661C>A;NG_029519.1:g.29671C>A;NM_005069.3:c.543+1230C>A;NM_009586.2:c.543+1230C>A 466052640 189006567 20101123_snps_12219870_chr21_38096661 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38096685_38096686insG;NG_029519.1:g.29695_29696insG;NM_005069.3:c.543+1254_543+1255insG;NM_009586.2:c.543+1254_543+1255insG 41448662 35944677 hCV33801738 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38096843G>C;NG_029519.1:g.29853G>C;NM_005069.3:c.543+1412G>C;NM_009586.2:c.543+1412G>C 228558722 116112466 pilot_1_YRI_10368405_chr21_37018713 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096863A>C;NG_029519.1:g.29873A>C;NM_005069.3:c.543+1432A>C;NM_009586.2:c.543+1432A>C 237978085 118173905 pilot_1_CEU_7582714_chr21_37018733 9.20e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38096876G>A;NG_029519.1:g.29886G>A;NM_005069.3:c.543+1445G>A;NM_009586.2:c.543+1445G>A 212084213 79500645 YRI.trio.3.2010_1500830_chr21_37018746 8.70e-03 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38096876G>A;NG_029519.1:g.29886G>A;NM_005069.3:c.543+1445G>A;NM_009586.2:c.543+1445G>A 228558723 79500645 pilot_1_YRI_10368406_chr21_37018746 8.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38096923G>A;NG_029519.1:g.29933G>A;NM_005069.3:c.543+1492G>A;NM_009586.2:c.543+1492G>A 466052641 182050604 20101123_snps_12219871_chr21_38096923 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 6651734 4817817 NT_011512.7_23757411 2.64e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BGI 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 103822070 4817817 BGI_rs4817817 2.64e-01 2008.06.07 2009.06.18 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 112461709 4817817 CEU.trio.12.15.2008_3763649_chr21_37018845 2.64e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 GMI 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 156891592 4817817 GMI_SNP_72406214 2.64e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 168000916 4817817 NA07022_36_chr21_37018845 2.64e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 204013972 4817817 BUSHMAN-chr21-37018844 2.64e-01 2010.03.10 2010.03.10 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 208790831 4817817 BCM_CMT_1011-3246264 2.64e-01 2010.03.20 2010.03.20 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 228558724 4817817 pilot_1_YRI_10368407_chr21_37018845 2.64e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 237978086 4817817 pilot_1_CEU_7582715_chr21_37018845 2.64e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 244117296 4817817 pilot_1_CHB+JPT_6002373_chr21_37018845 2.64e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 283537676 4817817 GMI_AK_SNP_7858097 2.64e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6493 NC_000021.8:g.38096975T>C;NG_029519.1:g.29985T>C;NM_005069.3:c.544-1445T>C;NM_009586.2:c.544-1445T>C 292708637 4817817 SNP_2214995_chr21_37018845 2.64e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38096997G>A;NG_029519.1:g.30007G>A;NM_005069.3:c.544-1423G>A;NM_009586.2:c.544-1423G>A 466052642 186429117 20101123_snps_12219872_chr21_38096997 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38097004T>A;NG_029519.1:g.30014T>A;NM_005069.3:c.544-1416T>A;NM_009586.2:c.544-1416T>A 466052643 191786264 20101123_snps_12219873_chr21_38097004 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38097068G>A;NG_029519.1:g.30078G>A;NM_005069.3:c.544-1352G>A;NM_009586.2:c.544-1352G>A 341012584 144816004 20100804_snps_12656125_chr21_38097068 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 4035531 2850097 AP001726.1_282545 4.00e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 6651735 2850097 NT_011512.7_23757552 4.00e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 10975023 2850097 chr21.NT_011512.8_23757511 4.00e-01 2003.07.01 2006.10.25 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 44291359 2850097 hCV16106288 4.00e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 76479515 2850097 AFFY_6_1M_SNP_A-8340605 4.00e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 91834678 2850097 JWB-1494572 4.00e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 103822072 2850097 BGI_rs2850097 4.00e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 104882136 2850097 KHS1274454 4.00e-01 2008.07.10 2008.07.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 112461713 2850097 CEU.trio.12.15.2008_3763650_chr21_37018986 4.00e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 113877127 2850097 NA19240_2008_12_16_3401867_chr21_37018986 4.00e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 138314882 2850097 ENSSNP6218181 4.00e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 156891601 2850097 GMI_SNP_37876564 4.00e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 168000930 2850097 NA07022_36_chr21_37018986 4.00e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 169456496 2850097 NA19240_36_chr21_37018986 4.00e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 204013973 2850097 BUSHMAN-chr21-37018985 4.00e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 208779265 2850097 BCM_CMT_1011-3234698 4.00e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 228558725 2850097 pilot_1_YRI_10368408_chr21_37018986 4.00e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 237978087 2850097 pilot_1_CEU_7582716_chr21_37018986 4.00e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 244117297 2850097 pilot_1_CHB+JPT_6002374_chr21_37018986 4.00e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 283537677 2850097 GMI_AK_SNP_7858098 4.00e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38097116T>A;NG_029519.1:g.30126T>A;NM_005069.3:c.544-1304T>A;NM_009586.2:c.544-1304T>A 292708638 2850097 SNP_2214996_chr21_37018986 4.00e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38097120C>T;NG_029519.1:g.30130C>T;NM_005069.3:c.544-1300C>T;NM_009586.2:c.544-1300C>T 204013974 112458635 BUSHMAN-chr21-37018989 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097155A>G;NG_029519.1:g.30165A>G;NM_005069.3:c.544-1265A>G;NM_009586.2:c.544-1265A>G 341012585 139883266 20100804_snps_12656126_chr21_38097155 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097171C>T;NG_029519.1:g.30181C>T;NM_005069.3:c.544-1249C>T;NM_009586.2:c.544-1249C>T 228558726 114616114 pilot_1_YRI_10368409_chr21_37019041 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097171C>T;NG_029519.1:g.30181C>T;NM_005069.3:c.544-1249C>T;NM_009586.2:c.544-1249C>T 237978088 114616114 pilot_1_CEU_7582717_chr21_37019041 1.40e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097175C>T;NG_029519.1:g.30185C>T;NM_005069.3:c.544-1245C>T;NM_009586.2:c.544-1245C>T 341012586 145387662 20100804_snps_12656127_chr21_38097175 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 4015118 2249959 P00222556 4.17e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 4035532 2249959 AP001726.1_282650 4.17e-01 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 10975356 2249959 chr21.NT_011512.8_23757616 4.17e-01 2003.07.01 2004.04.07 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 23802454 2249959 afd0075630 4.17e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 44245941 2249959 hCV16106294 4.17e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 66371621 2249959 SNP_A-2018911 4.17e-01 2006.10.29 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 66709840 2249959 HumanHap300v1.1_rs2249959 4.17e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 67237969 2249959 HumanHap550v1.1_rs2249959 4.17e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 67634359 2249959 HumanHap650Yv1.0_rs2249959 4.17e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 69253513 2249959 PGP00075630 4.17e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 70716303 2249959 HumanHap550v3.0__rs2249959 4.17e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 71284274 2249959 HumanHap650Yv3.0_rs2249959 4.17e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 75640037 2249959 ILMN_Human_1M_rs2249959 4.17e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 76098388 2249959 AFFY_6_1M_SNP_A-2018911 4.17e-01 2007.08.30 2010.03.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 79123459 2249959 HumanHap300v2.0_rs2249959 4.17e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 84009002 2249959 KHS600462 4.17e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 86035842 2249959 Cor18517_SNV_20070510.chr21_37019091 4.17e-01 2007.12.11 2007.12.11 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 91834680 2249959 JWB-1494573 4.17e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 103822074 2249959 BGI_rs2249959 4.17e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 112461717 2249959 CEU.trio.12.15.2008_3763651_chr21_37019091 4.17e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 113877135 2249959 NA19240_2008_12_16_3401868_chr21_37019091 4.17e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 117520787 2249959 NA18507_000036544_NCBI36.1_chr21_37019091 4.17e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 121967343 2249959 HumanCNV370v1_C_rs2249959 4.17e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 138314883 2249959 ENSSNP6802123 4.17e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 153894483 2249959 Human610_Quadv1_B_rs2249959-128_B_F_1501716931 4.17e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 156891607 2249959 GMI_SNP_37854861 4.17e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 159372657 2249959 Human660W-Quad_v1_A_rs2249959-128_B_F_1501716931 4.17e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 160521990 2249959 HumanOmni1-Quad_v1-0_B_rs2249959-128_B_F_1501716931 4.17e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 168000942 2249959 NA07022_36_chr21_37019091 4.17e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 169456512 2249959 NA19240_36_chr21_37019091 4.17e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 171124374 2249959 HumanCNV370-Quadv3_C_rs2249959-128_B_F_1501716931 4.17e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 AFFY 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 172498271 2249959 GenomeWideSNP_5_SNP_A-2018911 4.17e-01 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 173215964 2249959 Human1M-Duov3_B_rs2249959-128_B_F_1501716931 4.17e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 204013975 2249959 BUSHMAN-chr21-37019090 4.17e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 208799251 2249959 BCM_CMT_1011-3254684 4.17e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 228558727 2249959 pilot_1_YRI_10368410_chr21_37019091 4.17e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 237978089 2249959 pilot_1_CEU_7582718_chr21_37019091 4.17e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 244117298 2249959 pilot_1_CHB+JPT_6002375_chr21_37019091 4.17e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 283537678 2249959 GMI_AK_SNP_7858099 4.17e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 292708639 2249959 SNP_2214997_chr21_37019091 4.17e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 480486083 2249959 HumanOmni2.5-4v1_B_rs2249959-128_B_F_1782890890 4.17e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38097221T>C;NG_029519.1:g.30231T>C;NM_005069.3:c.544-1199T>C;NM_009586.2:c.544-1199T>C 481302245 2249959 HumanOmni1-Quad_v1-0_C_rs2249959-131_B_F_1857171055 4.17e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38097231G>A;NG_029519.1:g.30241G>A;NM_005069.3:c.544-1189G>A;NM_009586.2:c.544-1189G>A 466052644 182879304 20101123_snps_12219874_chr21_38097231 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38097248T>C;NG_029519.1:g.30258T>C;NM_005069.3:c.544-1172T>C;NM_009586.2:c.544-1172T>C 341012587 147667007 20100804_snps_12656128_chr21_38097248 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38097330A>C;NG_029519.1:g.30340A>C;NM_005069.3:c.544-1090A>C;NM_009586.2:c.544-1090A>C 16915474 11702408 CSHL-HuAA-200402.chr21.NT_011512.9_23757726 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097379A>T;NG_029519.1:g.30389A>T;NM_005069.3:c.544-1041A>T;NM_009586.2:c.544-1041A>T 466052645 185807763 20101123_snps_12219875_chr21_38097379 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38097398G>C;NG_029519.1:g.30408G>C;NM_005069.3:c.544-1022G>C;NM_009586.2:c.544-1022G>C 228558728 116184572 pilot_1_YRI_10368411_chr21_37019268 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097418delG;NG_029519.1:g.30428delG;NM_005069.3:c.544-1002delG;NM_009586.2:c.544-1002delG 328091396 149629239 CEU_chr21_37019287_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38097489A>C;NG_029519.1:g.30499A>C;NM_005069.3:c.544-931A>C;NM_009586.2:c.544-931A>C 4035533 2850098 AP001726.1_282918 9.43e-02 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38097489A>C;NG_029519.1:g.30499A>C;NM_005069.3:c.544-931A>C;NM_009586.2:c.544-931A>C 10993717 2850098 chr21.NT_011512.8_23757884 9.43e-02 2003.07.01 2003.10.10 2001.09.28 2011.09.09 137 WI_SSAHASNP 6493 NC_000021.8:g.38097489A>C;NG_029519.1:g.30499A>C;NM_005069.3:c.544-931A>C;NM_009586.2:c.544-931A>C 12518485 2850098 chr21.NT_011512.8_23757884 9.43e-02 2003.07.04 2003.10.10 2001.09.28 2011.09.09 137 ABI 6493 NC_000021.8:g.38097489A>C;NG_029519.1:g.30499A>C;NM_005069.3:c.544-931A>C;NM_009586.2:c.544-931A>C 41490225 2850098 hCV16106295 9.43e-02 2005.07.17 2005.07.17 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097489A>C;NG_029519.1:g.30499A>C;NM_005069.3:c.544-931A>C;NM_009586.2:c.544-931A>C 228558729 2850098 pilot_1_YRI_10368412_chr21_37019359 9.43e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38097501A>G;NG_029519.1:g.30511A>G;NM_005069.3:c.544-919A>G;NM_009586.2:c.544-919A>G 4040786 2854045 D85922.1_37017 9.43e-02 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38097501A>G;NG_029519.1:g.30511A>G;NM_005069.3:c.544-919A>G;NM_009586.2:c.544-919A>G 10993725 2854045 chr21.NT_011512.8_23757896 9.43e-02 2003.07.01 2003.10.10 2001.09.28 2011.09.09 137 WI_SSAHASNP 6493 NC_000021.8:g.38097501A>G;NG_029519.1:g.30511A>G;NM_005069.3:c.544-919A>G;NM_009586.2:c.544-919A>G 12518493 2854045 chr21.NT_011512.8_23757896 9.43e-02 2003.07.04 2003.10.10 2001.09.28 2011.09.09 137 ABI 6493 NC_000021.8:g.38097501A>G;NG_029519.1:g.30511A>G;NM_005069.3:c.544-919A>G;NM_009586.2:c.544-919A>G 41446338 2854045 hCV32360412 9.43e-02 2005.07.17 2005.07.17 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097501A>G;NG_029519.1:g.30511A>G;NM_005069.3:c.544-919A>G;NM_009586.2:c.544-919A>G 228558730 2854045 pilot_1_YRI_10368413_chr21_37019371 9.43e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097660C>T;NG_029519.1:g.30670C>T;NM_005069.3:c.544-760C>T;NM_009586.2:c.544-760C>T 341012588 140847077 20100804_snps_12656129_chr21_38097660 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38097690G>A;NG_029519.1:g.30700G>A;NM_005069.3:c.544-730G>A;NM_009586.2:c.544-730G>A 466052646 191501368 20101123_snps_12219876_chr21_38097690 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38097825A>G;NG_029519.1:g.30835A>G;NM_005069.3:c.544-595A>G;NM_009586.2:c.544-595A>G 341012589 144685565 20100804_snps_12656130_chr21_38097825 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38098007G>A;NG_029519.1:g.31017G>A;NM_005069.3:c.544-413G>A;NM_009586.2:c.544-413G>A 341012590 151200964 20100804_snps_12656131_chr21_38098007 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 112461723 73210775 CEU.trio.12.15.2008_3763652_chr21_37019948 1.71e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 172013999 73210775 NA20431_36_chr21_37019948 1.71e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 204013976 73210775 BUSHMAN-chr21-37019947 1.71e-01 2010.03.10 2010.03.10 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 237978090 73210775 pilot_1_CEU_7582719_chr21_37019948 1.71e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 244117300 73210775 pilot_1_CHB+JPT_6002377_chr21_37019948 1.71e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6493 NC_000021.8:g.38098078T>C;NG_029519.1:g.31088T>C;NM_005069.3:c.544-342T>C;NM_009586.2:c.544-342T>C 283537679 73210775 GMI_AK_SNP_7858100 1.71e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098082C>T;NG_029519.1:g.31092C>T;NM_005069.3:c.544-338C>T;NM_009586.2:c.544-338C>T 341012591 140251004 20100804_snps_12656132_chr21_38098082 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38098115T>A;NG_029519.1:g.31125T>A;NM_005069.3:c.544-305T>A;NM_009586.2:c.544-305T>A 244117301 117851930 pilot_1_CHB+JPT_6002378_chr21_37019985 1.80e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38098118C>T;NG_029519.1:g.31128C>T;NM_005069.3:c.544-302C>T;NM_009586.2:c.544-302C>T 341012592 150378669 20100804_snps_12656133_chr21_38098118 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38098265G>T;NG_029519.1:g.31275G>T;NM_005069.3:c.544-155G>T;NM_009586.2:c.544-155G>T 86106460 59115852 Cor18956_SNV_20070510.chr21_37020135 9.00e-04 2007.12.11 2007.12.11 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098265G>T;NG_029519.1:g.31275G>T;NM_005069.3:c.544-155G>T;NM_009586.2:c.544-155G>T 341012593 59115852 20100804_snps_12656134_chr21_38098265 9.00e-04 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098274C>T;NG_029519.1:g.31284C>T;NM_005069.3:c.544-146C>T;NM_009586.2:c.544-146C>T 466052647 182459188 20101123_snps_12219877_chr21_38098274 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6493 NC_000021.8:g.38098279C>T;NG_029519.1:g.31289C>T;NM_005069.3:c.544-141C>T;NM_009586.2:c.544-141C>T 20131361 12626325 CSHL-HuFF-200402.chr21.NT_011512.9_23758675 5.00e-04 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098279C>T;NG_029519.1:g.31289C>T;NM_005069.3:c.544-141C>T;NM_009586.2:c.544-141C>T 466052648 12626325 20101123_snps_12219878_chr21_38098279 5.00e-04 2011.07.20 2011.07.20 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098302A>G;NG_029519.1:g.31312A>G;NM_005069.3:c.544-118A>G;NM_009586.2:c.544-118A>G 244117302 117960068 pilot_1_CHB+JPT_6002379_chr21_37020172 1.40e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 ABI 6493 NC_000021.8:g.38098331_38098332insA;NG_029519.1:g.31341_31342insA;NM_005069.3:c.544-89_544-88insA;NM_009586.2:c.544-89_544-88insA 41446666 34951461 hCV33801735 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38098399C>A;NG_029519.1:g.31409C>A;NM_005069.3:c.544-21C>A;NM_009586.2:c.544-21C>A 341012594 141108467 20100804_snps_12656135_chr21_38098399 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098399C>A;NG_029519.1:g.31409C>A;NM_005069.3:c.544-21C>A;NM_009586.2:c.544-21C>A 491184258 141108467 20110521_exome_692056_chr21_38098399 7.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098411C>T;NG_029519.1:g.31421C>T;NM_005069.3:c.544-9C>T;NM_009586.2:c.544-9C>T 489203525 202180912 20110521_exome_275047_chr21_38098411 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098456T>C;NG_029519.1:g.31466T>C;NM_005069.3:c.580T>C;NM_009586.2:c.580T>C;NP_005060.1:p.Tyr194His;NP_033664.2:p.Tyr194His 489203527 201356831 20110521_exome_275048_chr21_38098456 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38098479C>T;NG_029519.1:g.31489C>T;NM_005069.3:c.603C>T;NM_009586.2:c.603C>T;NP_005060.1:p.Tyr201=;NP_033664.2:p.Tyr201= 491815752 201184834 SNV-chr21-37020349 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098512C>T;NG_029519.1:g.31522C>T;NM_005069.3:c.636C>T;NM_009586.2:c.636C>T;NP_005060.1:p.Ala212=;NP_033664.2:p.Ala212= 489203529 200875464 20110521_exome_275049_chr21_38098512 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38098524G>A;NG_029519.1:g.31534G>A;NM_005069.3:c.648G>A;NM_009586.2:c.648G>A;NP_005060.1:p.Ser216=;NP_033664.2:p.Ser216= 204013977 112429649 BUSHMAN-chr21-37020393 4.60e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098524G>A;NG_029519.1:g.31534G>A;NM_005069.3:c.648G>A;NM_009586.2:c.648G>A;NP_005060.1:p.Ser216=;NP_033664.2:p.Ser216= 341012595 112429649 20100804_snps_12656136_chr21_38098524 4.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38098524G>A;NG_029519.1:g.31534G>A;NM_005069.3:c.648G>A;NM_009586.2:c.648G>A;NP_005060.1:p.Ser216=;NP_033664.2:p.Ser216= 342531778 112429649 ESP2500-chr21-38098524 4.60e-03 2011.03.27 2011.03.27 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098524G>A;NG_029519.1:g.31534G>A;NM_005069.3:c.648G>A;NM_009586.2:c.648G>A;NP_005060.1:p.Ser216=;NP_033664.2:p.Ser216= 491184259 112429649 20110521_exome_692057_chr21_38098524 4.60e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38098524G>A;NG_029519.1:g.31534G>A;NM_005069.3:c.648G>A;NM_009586.2:c.648G>A;NP_005060.1:p.Ser216=;NP_033664.2:p.Ser216= 491815753 112429649 SNV-chr21-37020394 4.60e-03 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38098602G>T;NG_029519.1:g.31612G>T;NM_005069.3:c.726G>T;NM_009586.2:c.726G>T;NP_005060.1:p.Leu242=;NP_033664.2:p.Leu242= 342531779 150678635 ESP2500-chr21-38098602 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6493 NC_000021.8:g.38098631A>C;NG_029519.1:g.31641A>C;NM_005069.3:c.743+12A>C;NM_009586.2:c.743+12A>C 491815754 200372257 SNV-chr21-37020501 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098793C>T;NG_029519.1:g.31803C>T;NM_005069.3:c.743+174C>T;NM_009586.2:c.743+174C>T 228558731 75397463 pilot_1_YRI_10368414_chr21_37020663 9.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38098912A>G;NG_029519.1:g.31922A>G;NM_005069.3:c.743+293A>G;NM_009586.2:c.743+293A>G 341012596 138519264 20100804_snps_12656137_chr21_38098912 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6493 NC_000021.8:g.38098954delT;NG_029519.1:g.31964delT;NM_005069.3:c.743+335delT;NM_009586.2:c.743+335delT 41490564 34047022 hCV33801734 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38098975A>G;NG_029519.1:g.31985A>G;NM_005069.3:c.743+356A>G;NM_009586.2:c.743+356A>G 466052649 190472876 20101123_snps_12219879_chr21_38098975 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6493 NC_000021.8:g.38099051G>C;NG_029519.1:g.32061G>C;NM_005069.3:c.743+432G>C;NM_009586.2:c.743+432G>C 85020116 58509072 Cor19240_SNV_20070510.chr21_37020921 2.70e-02 2007.12.08 2007.12.08 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099051G>C;NG_029519.1:g.32061G>C;NM_005069.3:c.743+432G>C;NM_009586.2:c.743+432G>C 113877143 58509072 NA19240_2008_12_16_3401869_chr21_37020921 2.70e-02 2008.12.18 2008.12.18 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38099051G>C;NG_029519.1:g.32061G>C;NM_005069.3:c.743+432G>C;NM_009586.2:c.743+432G>C 169456528 58509072 NA19240_36_chr21_37020921 2.70e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099051G>C;NG_029519.1:g.32061G>C;NM_005069.3:c.743+432G>C;NM_009586.2:c.743+432G>C 228558732 58509072 pilot_1_YRI_10368415_chr21_37020921 2.70e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099211G>A;NG_029519.1:g.32221G>A;NM_005069.3:c.743+592G>A;NM_009586.2:c.743+592G>A 341012598 143484369 20100804_snps_12656139_chr21_38099211 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 4040787 2854046 D85922.1_38730 1.74e-01 2001.09.26 2006.10.25 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 78624531 2854046 Cor18507_SNV_20070510.chr21_37021084 1.74e-01 2007.10.20 2007.10.20 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 82155167 2854046 Cor19240_SNV_20070510.chr21_37021084 1.74e-01 2007.12.02 2007.12.02 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 113877155 2854046 NA19240_2008_12_16_3401870_chr21_37021084 1.74e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 117520789 2854046 NA18507_000036545_NCBI36.1_chr21_37021084 1.74e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 169456547 2854046 NA19240_36_chr21_37021084 1.74e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 204013978 2854046 BUSHMAN-chr21-37021083 1.74e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 228558733 2854046 pilot_1_YRI_10368416_chr21_37021084 1.74e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099214T>G;NG_029519.1:g.32224T>G;NM_005069.3:c.743+595T>G;NM_009586.2:c.743+595T>G 237978091 2854046 pilot_1_CEU_7582720_chr21_37021084 1.74e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38099283T>A;NG_029519.1:g.32293T>A;NM_005069.3:c.743+664T>A;NM_009586.2:c.743+664T>A 138314884 79952252 ENSSNP11885118 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38099287T>A;NG_029519.1:g.32297T>A;NM_005069.3:c.743+668T>A;NM_009586.2:c.743+668T>A 341012599 148352344 20100804_snps_12656140_chr21_38099287 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38099402G>A;NG_029519.1:g.32412G>A;NM_005069.3:c.743+783G>A;NM_009586.2:c.743+783G>A 208808444 112084443 BCM_CMT_1011-3263879 8.70e-03 2010.03.20 2010.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099402G>A;NG_029519.1:g.32412G>A;NM_005069.3:c.743+783G>A;NM_009586.2:c.743+783G>A 466052650 112084443 20101123_snps_12219880_chr21_38099402 8.70e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38099441C>T;NG_029519.1:g.32451C>T;NM_005069.3:c.743+822C>T;NM_009586.2:c.743+822C>T 16910250 11701368 CSHL-HuAA-200402.chr21.NT_011512.9_23759837 1.80e-03 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 ABI 6493 NC_000021.8:g.38099441C>T;NG_029519.1:g.32451C>T;NM_005069.3:c.743+822C>T;NM_009586.2:c.743+822C>T 41449841 11701368 hCV2990383 1.80e-03 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38099441C>T;NG_029519.1:g.32451C>T;NM_005069.3:c.743+822C>T;NM_009586.2:c.743+822C>T 161360976 11701368 ENSSNP1974382 1.80e-03 2009.09.24 2010.03.07 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38099441C>T;NG_029519.1:g.32451C>T;NM_005069.3:c.743+822C>T;NM_009586.2:c.743+822C>T 341012600 11701368 20100804_snps_12656141_chr21_38099441 1.80e-03 2011.03.22 2011.03.22 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38099463G>C;NG_029519.1:g.32473G>C;NM_005069.3:c.743+844G>C;NM_009586.2:c.743+844G>C 466052651 189068291 20101123_snps_12219881_chr21_38099463 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38099591C>T;NG_029519.1:g.32601C>T;NM_005069.3:c.743+972C>T;NM_009586.2:c.743+972C>T 204013979 111749083 BUSHMAN-chr21-37021460 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38099637delA;NG_029519.1:g.32647delA;NM_005069.3:c.743+1018delA;NM_009586.2:c.743+1018delA 193633792 112302386 BUSHMAN-chr21-37021506-37021507 9.07e-02 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099637delA;NG_029519.1:g.32647delA;NM_005069.3:c.743+1018delA;NM_009586.2:c.743+1018delA 328316695 112302386 YRI_chr21_37021506_indel 9.07e-02 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099637delA;NG_029519.1:g.32647delA;NM_005069.3:c.743+1018delA;NM_009586.2:c.743+1018delA 499804917 112302386 20110316_indels_chr21_38099636_38099636 9.07e-02 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099691T>G;NG_029519.1:g.32701T>G;NM_005069.3:c.743+1072T>G;NM_009586.2:c.743+1072T>G 228558734 75935901 pilot_1_YRI_10368417_chr21_37021561 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 SC_JCM 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 4035534 2850099 AP001726.1_285138 5.17e-02 2001.09.26 2006.10.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 160589338 2850099 HumanOmni1-Quad_v1-0_B_rs2850099-128_T_R_1569368872 5.17e-02 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 204013980 2850099 BUSHMAN-chr21-37021578 5.17e-02 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 228558735 2850099 pilot_1_YRI_10368418_chr21_37021579 5.17e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 481571785 2850099 HumanOmni1-Quad_v1-0_C_rs2850099-131_T_R_1863321672 5.17e-02 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 484093458 2850099 HumanOmni2.5-4v1_D_kgp8453836-0_T_R_1820105503 5.17e-02 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38099709G>T;NG_029519.1:g.32719G>T;NM_005069.3:c.743+1090G>T;NM_009586.2:c.743+1090G>T 484267496 2850099 HumanOmni2.5-4v1_B_SNP21-37021579-0_T_R_1630120021 5.17e-02 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38099742G>T;NG_029519.1:g.32752G>T;NM_005069.3:c.743+1123G>T;NM_009586.2:c.743+1123G>T 466052652 193021792 20101123_snps_12219882_chr21_38099742 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38099777delA;NG_029519.1:g.32787delA;NM_005069.3:c.743+1158delA;NM_009586.2:c.743+1158delA 41500618 35661802 hCV33801733 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38099871G>A;NG_029519.1:g.32881G>A;NM_005069.3:c.743+1252G>A;NM_009586.2:c.743+1252G>A 466052653 184540231 20101123_snps_12219883_chr21_38099871 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38099877A>C;NG_029519.1:g.32887A>C;NM_005069.3:c.743+1258A>C;NM_009586.2:c.743+1258A>C 341012602 140242084 20100804_snps_12656143_chr21_38099877 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38099896C>T;NG_029519.1:g.32906C>T;NM_005069.3:c.743+1277C>T;NM_009586.2:c.743+1277C>T 341012603 144072188 20100804_snps_12656144_chr21_38099896 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38099953G>A;NG_029519.1:g.32963G>A;NM_005069.3:c.743+1334G>A;NM_009586.2:c.743+1334G>A 228558736 115379855 pilot_1_YRI_10368419_chr21_37021823 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38100002G>A;NG_029519.1:g.33012G>A;NM_005069.3:c.743+1383G>A;NM_009586.2:c.743+1383G>A 341012604 147254941 20100804_snps_12656145_chr21_38100002 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38100016G>C;NG_029519.1:g.33026G>C;NM_005069.3:c.743+1397G>C;NM_009586.2:c.743+1397G>C 466052654 187513985 20101123_snps_12219884_chr21_38100016 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38100070G>A;NG_029519.1:g.33080G>A;NM_005069.3:c.743+1451G>A;NM_009586.2:c.743+1451G>A 341012605 140683102 20100804_snps_12656146_chr21_38100070 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38100172delC;NG_029519.1:g.33182delC;NM_005069.3:c.743+1553delC;NM_009586.2:c.743+1553delC 328316696 139872964 YRI_chr21_37022041_indel 3.57e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100172C>A;NG_029519.1:g.33182C>A;NM_005069.3:c.743+1553C>A;NM_009586.2:c.743+1553C>A 466052655 192978192 20101123_snps_12219885_chr21_38100172 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38100172delC;NG_029519.1:g.33182delC;NM_005069.3:c.743+1553delC;NM_009586.2:c.743+1553delC 499804920 139872964 20110316_indels_chr21_38100171_38100171 3.57e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100224G>C;NG_029519.1:g.33234G>C;NM_005069.3:c.743+1605G>C;NM_009586.2:c.743+1605G>C 212084215 76025723 YRI.trio.3.2010_1500831_chr21_37022094 3.20e-03 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38100224G>C;NG_029519.1:g.33234G>C;NM_005069.3:c.743+1605G>C;NM_009586.2:c.743+1605G>C 228558737 76025723 pilot_1_YRI_10368420_chr21_37022094 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38100285G>T;NG_029519.1:g.33295G>T;NM_005069.3:c.743+1666G>T;NM_009586.2:c.743+1666G>T 204013981 113161332 BUSHMAN-chr21-37022154 1.92e-02 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100285G>T;NG_029519.1:g.33295G>T;NM_005069.3:c.743+1666G>T;NM_009586.2:c.743+1666G>T 228558738 113161332 pilot_1_YRI_10368421_chr21_37022155 1.92e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38100307C>G;NG_029519.1:g.33317C>G;NM_005069.3:c.743+1688C>G;NM_009586.2:c.743+1688C>G 4029203 2845787 AP000697.1_101429 5.17e-02 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38100307C>G;NG_029519.1:g.33317C>G;NM_005069.3:c.743+1688C>G;NM_009586.2:c.743+1688C>G 10987533 2845787 chr21.NT_011512.8_23760702 5.17e-02 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38100307C>G;NG_029519.1:g.33317C>G;NM_005069.3:c.743+1688C>G;NM_009586.2:c.743+1688C>G 204013982 2845787 BUSHMAN-chr21-37022176 5.17e-02 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100307C>G;NG_029519.1:g.33317C>G;NM_005069.3:c.743+1688C>G;NM_009586.2:c.743+1688C>G 228558739 2845787 pilot_1_YRI_10368422_chr21_37022177 5.17e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100356G>A;NG_029519.1:g.33366G>A;NM_005069.3:c.743+1737G>A;NM_009586.2:c.743+1737G>A 466052656 184136095 20101123_snps_12219886_chr21_38100356 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 4035535 2850100 AP001726.1_285936 5.49e-02 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 44244804 2850100 hCV16106303 5.49e-02 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 204013983 2850100 BUSHMAN-chr21-37022376 5.49e-02 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 212084217 2850100 YRI.trio.3.2010_1500832_chr21_37022377 5.49e-02 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 228558740 2850100 pilot_1_YRI_10368423_chr21_37022377 5.49e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 479237240 2850100 HumanOmni2.5-4v1_D_kgp10228231-0_B_R_1820125705 5.49e-02 2012.01.30 2012.01.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38100507G>A;NG_029519.1:g.33517G>A;NM_005069.3:c.743+1888G>A;NM_009586.2:c.743+1888G>A 484267498 2850100 HumanOmni2.5-4v1_B_SNP21-37022377-0_B_R_1630127109 5.49e-02 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100733C>G;NG_029519.1:g.33743C>G;NM_005069.3:c.743+2114C>G;NM_009586.2:c.743+2114C>G 237978092 118018960 pilot_1_CEU_7582721_chr21_37022603 1.19e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 ABI 6493 NC_000021.8:g.38100764delG;NG_029519.1:g.33774delG;NM_005069.3:c.743+2145delG;NM_009586.2:c.743+2145delG 41486191 35586172 hCV33801732 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 1372149 933144 TSC0259797 5.49e-02 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 4035537 933144 AP001726.1_286235 5.49e-02 2001.09.26 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 10977563 933144 chr21.NT_011512.8_23761201 5.49e-02 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 23802455 933144 afd4248852 5.49e-02 2004.08.20 2004.09.13 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 44247912 933144 hCV9527104 5.49e-02 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 66114056 933144 SNP_A-2018912 5.49e-02 2006.10.27 2007.08.14 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 76098387 933144 AFFY_6_1M_SNP_A-2018912 5.49e-02 2007.08.30 2007.08.30 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 81445698 933144 KHS71883 5.49e-02 2007.11.30 2007.11.30 2000.10.05 2012.11.28 137 AFFY 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 172498267 933144 GenomeWideSNP_5_SNP_A-2018912 5.49e-02 2009.10.02 2009.10.02 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 204013984 933144 BUSHMAN-chr21-37022675 5.49e-02 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 212084219 933144 YRI.trio.3.2010_1500833_chr21_37022676 5.49e-02 2010.03.31 2010.03.31 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100806G>A;NG_029519.1:g.33816G>A;NM_005069.3:c.743+2187G>A;NM_009586.2:c.743+2187G>A 228558741 933144 pilot_1_YRI_10368424_chr21_37022676 5.49e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 4029204 2845788 AP000697.1_102090 0 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 10977090 2845788 chr21.NT_011512.8_23761363 0 2003.07.01 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 16910464 2845788 CSHL-HuAA-200402.chr21.NT_011512.9_23761364 0 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 21831787 2845788 WGSA-200403-chr21.chr21.NT_011512.9_23761364 0 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 80886617 2845788 Cor18507_SNV_20070510.chr21_37022838 0 2007.11.27 2007.11.27 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 83960063 2845788 Cor18555_SNV_20070510.chr21_37022838 0 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 85783372 2845788 Cor19129_SNV_20070510.chr21_37022838 0 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 86008417 2845788 Cor18956_SNV_20070510.chr21_37022838 0 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 91834682 2845788 JWB-1494574 0 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 96147484 2845788 1103643115895 0 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 106212815 2845788 BGI_rs2845788 0 2008.09.14 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 112461727 2845788 CEU.trio.12.15.2008_3763653_chr21_37022838 0 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 113877163 2845788 NA19240_2008_12_16_3401871_chr21_37022838 0 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 117520791 2845788 NA18507_000036546_NCBI36.1_chr21_37022838 0 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 135607459 2845788 ENSSNP1974383 0 2009.05.14 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 138314885 2845788 ENSSNP6962894 0 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 156891616 2845788 GMI_SNP_72472615 0 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 168000954 2845788 NA07022_36_chr21_37022838 0 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 169456562 2845788 NA19240_36_chr21_37022838 0 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 172014007 2845788 NA20431_36_chr21_37022838 0 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 204013985 2845788 BUSHMAN-chr21-37022837 0 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 208777151 2845788 BCM_CMT_1011-3232584 0 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 228558742 2845788 pilot_1_YRI_10368425_chr21_37022838 0 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 237978093 2845788 pilot_1_CEU_7582722_chr21_37022838 0 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 244117303 2845788 pilot_1_CHB+JPT_6002380_chr21_37022838 0 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 255945863 2845788 SNP32849_21_37022838 0 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 283537680 2845788 GMI_AK_SNP_7858101 0 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38100968A>G;NG_029519.1:g.33978A>G;NM_005069.3:c.743+2349A>G;NM_009586.2:c.743+2349A>G 292708640 2845788 SNP_2214998_chr21_37022838 0 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38101092A>G;NG_029519.1:g.34102A>G;NM_005069.3:c.744-2254A>G;NM_009586.2:c.744-2254A>G 10977478 7276794 chr21.NT_011512.8_23761487 2.47e-02 2003.07.01 2006.10.25 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38101092A>G;NG_029519.1:g.34102A>G;NM_005069.3:c.744-2254A>G;NM_009586.2:c.744-2254A>G 228558743 7276794 pilot_1_YRI_10368426_chr21_37022962 2.47e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38101177C>T;NG_029519.1:g.34187C>T;NM_005069.3:c.744-2169C>T;NM_009586.2:c.744-2169C>T 466052657 189255396 20101123_snps_12219887_chr21_38101177 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38101262C>T;NG_029519.1:g.34272C>T;NM_005069.3:c.744-2084C>T;NM_009586.2:c.744-2084C>T 341012607 80028463 20100804_snps_12656148_chr21_38101262 1.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38101266T>C;NG_029519.1:g.34276T>C;NM_005069.3:c.744-2080T>C;NM_009586.2:c.744-2080T>C 341012608 148531643 20100804_snps_12656149_chr21_38101266 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38101532T>C;NG_029519.1:g.34542T>C;NM_005069.3:c.744-1814T>C;NM_009586.2:c.744-1814T>C 466052658 181607658 20101123_snps_12219888_chr21_38101532 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38101562C>T;NG_029519.1:g.34572C>T;NM_005069.3:c.744-1784C>T;NM_009586.2:c.744-1784C>T 228558745 116115501 pilot_1_YRI_10368428_chr21_37023432 1.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38101603G>A;NG_029519.1:g.34613G>A;NM_005069.3:c.744-1743G>A;NM_009586.2:c.744-1743G>A 113877168 73398103 NA19240_2008_12_16_3401872_chr21_37023473 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38101603G>A;NG_029519.1:g.34613G>A;NM_005069.3:c.744-1743G>A;NM_009586.2:c.744-1743G>A 169456576 73398103 NA19240_36_chr21_37023473 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38101642C>G;NG_029519.1:g.34652C>G;NM_005069.3:c.744-1704C>G;NM_009586.2:c.744-1704C>G 341012609 142640010 20100804_snps_12656150_chr21_38101642 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38101668G>T;NG_029519.1:g.34678G>T;NM_005069.3:c.744-1678G>T;NM_009586.2:c.744-1678G>T 228558746 116370860 pilot_1_YRI_10368429_chr21_37023538 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38101693C>T;NG_029519.1:g.34703C>T;NM_005069.3:c.744-1653C>T;NM_009586.2:c.744-1653C>T 466052659 184369078 20101123_snps_12219889_chr21_38101693 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38101951G>A;NG_029519.1:g.34961G>A;NM_005069.3:c.744-1395G>A;NM_009586.2:c.744-1395G>A 341012610 146479563 20100804_snps_12656151_chr21_38101951 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102019T>G;NG_029519.1:g.35029T>G;NM_005069.3:c.744-1327T>G;NM_009586.2:c.744-1327T>G 341012611 141147268 20100804_snps_12656152_chr21_38102019 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102078C>T;NG_029519.1:g.35088C>T;NM_005069.3:c.744-1268C>T;NM_009586.2:c.744-1268C>T 341012612 143449538 20100804_snps_12656153_chr21_38102078 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102079G>A;NG_029519.1:g.35089G>A;NM_005069.3:c.744-1267G>A;NM_009586.2:c.744-1267G>A 341012613 146672723 20100804_snps_12656154_chr21_38102079 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102118G>A;NG_029519.1:g.35128G>A;NM_005069.3:c.744-1228G>A;NM_009586.2:c.744-1228G>A 212084220 76947070 YRI.trio.3.2010_1500834_chr21_37023988 3.70e-03 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38102118G>A;NG_029519.1:g.35128G>A;NM_005069.3:c.744-1228G>A;NM_009586.2:c.744-1228G>A 228558747 76947070 pilot_1_YRI_10368430_chr21_37023988 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38102121C>T;NG_029519.1:g.35131C>T;NM_005069.3:c.744-1225C>T;NM_009586.2:c.744-1225C>T 341012614 140210699 20100804_snps_12656155_chr21_38102121 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102134C>T;NG_029519.1:g.35144C>T;NM_005069.3:c.744-1212C>T;NM_009586.2:c.744-1212C>T 466052660 190687195 20101123_snps_12219890_chr21_38102134 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38102155G>A;NG_029519.1:g.35165G>A;NM_005069.3:c.744-1191G>A;NM_009586.2:c.744-1191G>A 228558748 116156156 pilot_1_YRI_10368431_chr21_37024025 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38102272G>A;NG_029519.1:g.35282G>A;NM_005069.3:c.744-1074G>A;NM_009586.2:c.744-1074G>A 21820584 13049457 WGSA-200403-chr21.chr21.NT_011512.9_23762668 9.20e-03 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38102272G>A;NG_029519.1:g.35282G>A;NM_005069.3:c.744-1074G>A;NM_009586.2:c.744-1074G>A 44241127 13049457 hCV2990384 9.20e-03 2005.07.18 2006.11.03 2004.04.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38102272G>A;NG_029519.1:g.35282G>A;NM_005069.3:c.744-1074G>A;NM_009586.2:c.744-1074G>A 135607456 13049457 ENSSNP1974384 9.20e-03 2009.05.14 2009.10.14 2004.04.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38102272G>A;NG_029519.1:g.35282G>A;NM_005069.3:c.744-1074G>A;NM_009586.2:c.744-1074G>A 292708641 13049457 SNP_2214999_chr21_37024142 9.20e-03 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102272G>A;NG_029519.1:g.35282G>A;NM_005069.3:c.744-1074G>A;NM_009586.2:c.744-1074G>A 341012615 13049457 20100804_snps_12656156_chr21_38102272 9.20e-03 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102360A>G;NG_029519.1:g.35370A>G;NM_005069.3:c.744-986A>G;NM_009586.2:c.744-986A>G 466052661 181980219 20101123_snps_12219891_chr21_38102360 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38102490T>C;NG_029519.1:g.35500T>C;NM_005069.3:c.744-856T>C;NM_009586.2:c.744-856T>C 341012616 138003348 20100804_snps_12656157_chr21_38102490 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102500C>T;NG_029519.1:g.35510C>T;NM_005069.3:c.744-846C>T;NM_009586.2:c.744-846C>T 228558749 78951603 pilot_1_YRI_10368432_chr21_37024370 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102506C>T;NG_029519.1:g.35516C>T;NM_005069.3:c.744-840C>T;NM_009586.2:c.744-840C>T 341012617 149058580 20100804_snps_12656158_chr21_38102506 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102545G>A;NG_029519.1:g.35555G>A;NM_005069.3:c.744-801G>A;NM_009586.2:c.744-801G>A 466052662 186191519 20101123_snps_12219892_chr21_38102545 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38102611G>A;NG_029519.1:g.35621G>A;NM_005069.3:c.744-735G>A;NM_009586.2:c.744-735G>A 228558750 78980165 pilot_1_YRI_10368433_chr21_37024481 9.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38102668G>A;NG_029519.1:g.35678G>A;NM_005069.3:c.744-678G>A;NM_009586.2:c.744-678G>A 341012618 143779673 20100804_snps_12656159_chr21_38102668 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38102719C>T;NG_029519.1:g.35729C>T;NM_005069.3:c.744-627C>T;NM_009586.2:c.744-627C>T 341012619 74715410 20100804_snps_12656160_chr21_38102719 9.20e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38102786G>A;NG_029519.1:g.35796G>A;NM_005069.3:c.744-560G>A;NM_009586.2:c.744-560G>A 208807964 112796717 BCM_CMT_1011-3263399 5.00e-04 2010.03.20 2010.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102786G>A;NG_029519.1:g.35796G>A;NM_005069.3:c.744-560G>A;NM_009586.2:c.744-560G>A 466052663 112796717 20101123_snps_12219893_chr21_38102786 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102825T>C;NG_029519.1:g.35835T>C;NM_005069.3:c.744-521T>C;NM_009586.2:c.744-521T>C 466052664 181328345 20101123_snps_12219894_chr21_38102825 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38102867C>T;NG_029519.1:g.35877C>T;NM_005069.3:c.744-479C>T;NM_009586.2:c.744-479C>T 228558751 77189072 pilot_1_YRI_10368434_chr21_37024737 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38102878C>T;NG_029519.1:g.35888C>T;NM_005069.3:c.744-468C>T;NM_009586.2:c.744-468C>T 341012620 144118189 20100804_snps_12656161_chr21_38102878 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38102959A>T;NG_029519.1:g.35969A>T;NM_005069.3:c.744-387A>T;NM_009586.2:c.744-387A>T 283537681 147313121 GMI_AK_SNP_7858102 5.00e-04 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38102959A>T;NG_029519.1:g.35969A>T;NM_005069.3:c.744-387A>T;NM_009586.2:c.744-387A>T 341012621 147313121 20100804_snps_12656162_chr21_38102959 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103080A>G;NG_029519.1:g.36090A>G;NM_005069.3:c.744-266A>G;NM_009586.2:c.744-266A>G 466052665 185461238 20101123_snps_12219895_chr21_38103080 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38103143_38103144insC;NG_029519.1:g.36153_36154insC;NM_005069.3:c.744-203_744-202insC;NM_009586.2:c.744-203_744-202insC 41489123 34185074 hCV33801731 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38103144C>A;NG_029519.1:g.36154C>A;NM_005069.3:c.744-202C>A;NM_009586.2:c.744-202C>A 341012622 139045403 20100804_snps_12656163_chr21_38103144 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38103166C>T;NG_029519.1:g.36176C>T;NM_005069.3:c.744-180C>T;NM_009586.2:c.744-180C>T 341012623 141437102 20100804_snps_12656164_chr21_38103166 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38103307C>T;NG_029519.1:g.36317C>T;NM_005069.3:c.744-39C>T;NM_009586.2:c.744-39C>T 466052666 189923799 20101123_snps_12219896_chr21_38103307 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103307C>T;NG_029519.1:g.36317C>T;NM_005069.3:c.744-39C>T;NM_009586.2:c.744-39C>T 491184260 189923799 20110521_exome_692058_chr21_38103307 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103406C>T;NG_029519.1:g.36416C>T;NM_005069.3:c.804C>T;NM_009586.2:c.804C>T;NP_005060.1:p.His268=;NP_033664.2:p.His268= 341012624 150823127 20100804_snps_12656165_chr21_38103406 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38103406C>T;NG_029519.1:g.36416C>T;NM_005069.3:c.804C>T;NM_009586.2:c.804C>T;NP_005060.1:p.His268=;NP_033664.2:p.His268= 342531780 150823127 ESP2500-chr21-38103406 3.20e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103406C>T;NG_029519.1:g.36416C>T;NM_005069.3:c.804C>T;NM_009586.2:c.804C>T;NP_005060.1:p.His268=;NP_033664.2:p.His268= 491184261 150823127 20110521_exome_692059_chr21_38103406 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38103412C>T;NG_029519.1:g.36422C>T;NM_005069.3:c.810C>T;NM_009586.2:c.810C>T;NP_005060.1:p.His270=;NP_033664.2:p.His270= 342531781 149786959 ESP2500-chr21-38103412 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38103421C>T;NG_029519.1:g.36431C>T;NM_005069.3:c.819C>T;NM_009586.2:c.819C>T;NP_005060.1:p.Asp273=;NP_033664.2:p.Asp273= 341012625 139320055 20100804_snps_12656166_chr21_38103421 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103421C>T;NG_029519.1:g.36431C>T;NM_005069.3:c.819C>T;NM_009586.2:c.819C>T;NP_005060.1:p.Asp273=;NP_033664.2:p.Asp273= 491184262 139320055 20110521_exome_692060_chr21_38103421 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103435G>A;NG_029519.1:g.36445G>A;NM_005069.3:c.833G>A;NM_009586.2:c.833G>A;NP_005060.1:p.Arg278His;NP_033664.2:p.Arg278His 489203531 199502401 20110521_exome_275050_chr21_38103435 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38103439C>T;NG_029519.1:g.36449C>T;NM_005069.3:c.837C>T;NM_009586.2:c.837C>T;NP_005060.1:p.Tyr279=;NP_033664.2:p.Tyr279= 342531782 147904157 ESP2500-chr21-38103439 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38103452C>T;NG_029519.1:g.36462C>T;NM_005069.3:c.850C>T;NM_009586.2:c.850C>T;NP_005060.1:p.Leu284=;NP_033664.2:p.Leu284= 342531783 139841287 ESP2500-chr21-38103452 1.42e-02 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103452C>T;NG_029519.1:g.36462C>T;NM_005069.3:c.850C>T;NM_009586.2:c.850C>T;NP_005060.1:p.Leu284=;NP_033664.2:p.Leu284= 489203533 139841287 20110521_exome_275051_chr21_38103452 1.42e-02 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38103452C>T;NG_029519.1:g.36462C>T;NM_005069.3:c.850C>T;NM_009586.2:c.850C>T;NP_005060.1:p.Leu284=;NP_033664.2:p.Leu284= 491565618 139841287 splice_281844_chr_21_38103452 1.42e-02 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103467C>T;NG_029519.1:g.36477C>T;NM_005069.3:c.850+15C>T;NM_009586.2:c.850+15C>T 341012626 150004951 20100804_snps_12656167_chr21_38103467 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103467C>T;NG_029519.1:g.36477C>T;NM_005069.3:c.850+15C>T;NM_009586.2:c.850+15C>T 491184263 150004951 20110521_exome_692061_chr21_38103467 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103527G>A;NG_029519.1:g.36537G>A;NM_005069.3:c.850+75G>A;NM_009586.2:c.850+75G>A 341012627 146003844 20100804_snps_12656168_chr21_38103527 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38103581C>A;NG_029519.1:g.36591C>A;NM_005069.3:c.850+129C>A;NM_009586.2:c.850+129C>A 466052667 182926138 20101123_snps_12219897_chr21_38103581 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38103582C>T;NG_029519.1:g.36592C>T;NM_005069.3:c.850+130C>T;NM_009586.2:c.850+130C>T 228558752 114671311 pilot_1_YRI_10368435_chr21_37025452 3.07e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103582C>T;NG_029519.1:g.36592C>T;NM_005069.3:c.850+130C>T;NM_009586.2:c.850+130C>T 480268156 114671311 HumanOmni2.5-4v1_D_kgp13193325-0_B_F_1825978347 3.07e-02 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103582C>T;NG_029519.1:g.36592C>T;NM_005069.3:c.850+130C>T;NM_009586.2:c.850+130C>T 484267500 114671311 HumanOmni2.5-4v1_B_SNP21-37025452-0_B_F_1624825039 3.07e-02 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103602C>T;NG_029519.1:g.36612C>T;NM_005069.3:c.850+150C>T;NM_009586.2:c.850+150C>T 228558753 116591818 pilot_1_YRI_10368436_chr21_37025472 3.07e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38103616C>T;NG_029519.1:g.36626C>T;NM_005069.3:c.850+164C>T;NM_009586.2:c.850+164C>T 466052668 188248879 20101123_snps_12219898_chr21_38103616 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KRIBB_YJKIM 6493 NC_000021.8:g.38103629_38103630delTCinsC;NC_000021.8:g.38103629_38103630delTCinsT;NG_029519.1:g.36639_36640delTCinsC;NG_029519.1:g.36639_36640delTCinsT;NM_005069.3:c.850+177_850+178delTCinsC;NM_005069.3:c.850+177_850+178delTCinsT;NM_009586.2:c.850+177_850+178delTCinsC;NM_009586.2:c.850+177_850+178delTCinsT 119424372 77905268 KHS1586619 2009.02.04 2009.02.04 2009.12.01 2011.07.08 137 YUSUKE 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 3203187 2250702 IMS-JST023271 2.68e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 4015119 2250702 P00222557 2.68e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 14435068 2250702 chr21.NT_011512.9_23764026 2.68e-01 2003.11.07 2004.05.17 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 17705524 2250702 CSHL-HuCC-200402.chr21.NT_011512.9_23764026 2.68e-01 2004.02.19 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 24219670 2250702 afd0075638 2.68e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 44263427 2250702 hCV2990385 2.68e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 65786287 2250702 Human1-rs2250702 2.68e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 69253514 2250702 PGP00075638 2.68e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 74875130 2250702 ILMN_Human_1M_rs2250702 2.68e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 103822076 2250702 BGI_rs2250702 2.68e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 112461731 2250702 CEU.trio.12.15.2008_3763654_chr21_37025500 2.68e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 161360978 2250702 ENSSNP1974385 2.68e-01 2009.09.24 2009.09.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 172014014 2250702 NA20431_36_chr21_37025500 2.68e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 173216601 2250702 Human1M-Duov3_B_rs2250702-128_T_R_1513895805 2.68e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 204013986 2250702 BUSHMAN-chr21-37025499 2.68e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 228558754 2250702 pilot_1_YRI_10368437_chr21_37025500 2.68e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 237978094 2250702 pilot_1_CEU_7582723_chr21_37025500 2.68e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 244117304 2250702 pilot_1_CHB+JPT_6002381_chr21_37025500 2.68e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 283537682 2250702 GMI_AK_SNP_7858103 2.68e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 483237825 2250702 HumanOmni2.5-4v1_D_kgp3798852-0_T_R_1820122895 2.68e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38103630C>T;NG_029519.1:g.36640C>T;NM_005069.3:c.850+178C>T;NM_009586.2:c.850+178C>T 484267502 2250702 HumanOmni2.5-4v1_B_SNP21-37025500-0_T_R_1634432782 2.68e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38103709T>G;NG_029519.1:g.36719T>G;NM_005069.3:c.850+257T>G;NM_009586.2:c.850+257T>G 208801036 113634109 BCM_CMT_1011-3256469 5.00e-04 2010.03.20 2010.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103709T>G;NG_029519.1:g.36719T>G;NM_005069.3:c.850+257T>G;NM_009586.2:c.850+257T>G 466052669 113634109 20101123_snps_12219899_chr21_38103709 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103740G>A;NG_029519.1:g.36750G>A;NM_005069.3:c.850+288G>A;NM_009586.2:c.850+288G>A 341012628 139904776 20100804_snps_12656169_chr21_38103740 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6493 NC_000021.8:g.38103846_38103847insG;NG_029519.1:g.36856_36857insG;NM_005069.3:c.850+394_850+395insG;NM_009586.2:c.850+394_850+395insG 41464572 36007022 hCV33801730 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38103944C>T;NG_029519.1:g.36954C>T;NM_005069.3:c.850+492C>T;NM_009586.2:c.850+492C>T 228558755 116466281 pilot_1_YRI_10368438_chr21_37025814 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38103994C>G;NG_029519.1:g.37004C>G;NM_005069.3:c.850+542C>G;NM_009586.2:c.850+542C>G 117520793 73902717 NA18507_000036547_NCBI36.1_chr21_37025864 8.20e-03 2009.01.19 2009.01.19 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38103994C>G;NG_029519.1:g.37004C>G;NM_005069.3:c.850+542C>G;NM_009586.2:c.850+542C>G 228558756 73902717 pilot_1_YRI_10368439_chr21_37025864 8.20e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104033C>T;NG_029519.1:g.37043C>T;NM_005069.3:c.850+581C>T;NM_009586.2:c.850+581C>T 228558757 116249188 pilot_1_YRI_10368440_chr21_37025903 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38104056C>T;NG_029519.1:g.37066C>T;NM_005069.3:c.850+604C>T;NM_009586.2:c.850+604C>T 12516723 8134109 chr21.NT_011512.8_23764451 3.07e-02 2003.07.04 2006.10.25 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38104056C>T;NG_029519.1:g.37066C>T;NM_005069.3:c.850+604C>T;NM_009586.2:c.850+604C>T 160952611 8134109 HumanOmni1-Quad_v1-0_B_rs8134109-128_T_R_1580123684 3.07e-02 2009.08.07 2009.10.05 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104056C>T;NG_029519.1:g.37066C>T;NM_005069.3:c.850+604C>T;NM_009586.2:c.850+604C>T 228558758 8134109 pilot_1_YRI_10368441_chr21_37025926 3.07e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38104056C>T;NG_029519.1:g.37066C>T;NM_005069.3:c.850+604C>T;NM_009586.2:c.850+604C>T 482786480 8134109 HumanOmni1-Quad_v1-0_C_rs8134109-131_T_R_1863401940 3.07e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104073A>G;NG_029519.1:g.37083A>G;NM_005069.3:c.850+621A>G;NM_009586.2:c.850+621A>G 341012629 143490056 20100804_snps_12656170_chr21_38104073 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104088C>T;NG_029519.1:g.37098C>T;NM_005069.3:c.850+636C>T;NM_009586.2:c.850+636C>T 341012630 146744689 20100804_snps_12656171_chr21_38104088 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104111G>A;NG_029519.1:g.37121G>A;NM_005069.3:c.850+659G>A;NM_009586.2:c.850+659G>A 341012631 148901311 20100804_snps_12656172_chr21_38104111 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104115T>A;NG_029519.1:g.37125T>A;NM_005069.3:c.850+663T>A;NM_009586.2:c.850+663T>A 466052670 183789469 20101123_snps_12219900_chr21_38104115 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 6493 NC_000021.8:g.38104194A>T;NG_029519.1:g.37204A>T;NM_005069.3:c.850+742A>T;NM_009586.2:c.850+742A>T 138314886 79405334 ENSSNP11885120 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104421T>C;NG_029519.1:g.37431T>C;NM_005069.3:c.850+969T>C;NM_009586.2:c.850+969T>C 341012632 142535463 20100804_snps_12656173_chr21_38104421 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38104551C>T;NG_029519.1:g.37561C>T;NM_005069.3:c.850+1099C>T;NM_009586.2:c.850+1099C>T 136462 762644 TSC0116424 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104582G>C;NG_029519.1:g.37592G>C;NM_005069.3:c.850+1130G>C;NM_009586.2:c.850+1130G>C 466052671 188020195 20101123_snps_12219901_chr21_38104582 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38104590T>A;NG_029519.1:g.37600T>A;NM_005069.3:c.850+1138T>A;NM_009586.2:c.850+1138T>A 466052672 191405475 20101123_snps_12219902_chr21_38104590 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38104612T>G;NG_029519.1:g.37622T>G;NM_005069.3:c.850+1160T>G;NM_009586.2:c.850+1160T>G 466052673 183597186 20101123_snps_12219903_chr21_38104612 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 99717 748709 TSC0129785 3.67e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 6651736 748709 NT_011512.7_23765174 3.67e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 12507483 748709 chr21.NT_011512.8_23765133 3.67e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 13444521 748709 NT_011512.8_23765133 3.67e-01 2003.10.23 2003.10.31 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 17708856 748709 CSHL-HuCC-200402.chr21.NT_011512.9_23765134 3.67e-01 2004.02.19 2004.03.04 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 20134826 748709 CSHL-HuFF-200402.chr21.NT_011512.9_23765134 3.67e-01 2004.02.22 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 21806557 748709 WGSA-200403-chr21.chr21.NT_011512.9_23765134 3.67e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 44261259 748709 hCV2990386 3.67e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 77252735 748709 Cor12156_SNV_20070510.chr21_37026608 3.67e-01 2007.10.10 2007.10.12 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 84637301 748709 Cor19129_SNV_20070510.chr21_37026608 3.67e-01 2007.12.07 2007.12.07 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 96168126 748709 1103643115886 3.67e-01 2008.03.25 2008.03.25 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 103822078 748709 BGI_rs748709 3.67e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 135607454 748709 ENSSNP1974386 3.67e-01 2009.05.14 2009.10.14 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 172014022 748709 NA20431_36_chr21_37026608 3.67e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 204013987 748709 BUSHMAN-chr21-37026607 3.67e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 210968743 748709 CEU.trio.3.2010_169827_chr21_37026608 3.67e-01 2010.03.29 2010.03.29 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 212084222 748709 YRI.trio.3.2010_1500835_chr21_37026608 3.67e-01 2010.03.31 2010.03.31 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 228558759 748709 pilot_1_YRI_10368442_chr21_37026608 3.67e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 237978095 748709 pilot_1_CEU_7582724_chr21_37026608 3.67e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 244117305 748709 pilot_1_CHB+JPT_6002382_chr21_37026608 3.67e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 283537683 748709 GMI_AK_SNP_7858104 3.67e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 292708642 748709 SNP_2215000_chr21_37026608 3.67e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 483522384 748709 HumanOmni2.5-4v1_D_kgp5340386-0_T_R_1820170505 3.67e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38104738C>T;NG_029519.1:g.37748C>T;NM_005069.3:c.850+1286C>T;NM_009586.2:c.850+1286C>T 484267504 748709 HumanOmni2.5-4v1_B_SNP21-37026608-0_T_R_1613065787 3.67e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104821G>A;NG_029519.1:g.37831G>A;NM_005069.3:c.850+1369G>A;NM_009586.2:c.850+1369G>A 112461735 73210777 CEU.trio.12.15.2008_3763655_chr21_37026691 4.21e-02 2008.12.17 2008.12.17 2009.02.14 2011.09.09 137 CHURCH_CG54K 6493 NC_000021.8:g.38104821G>A;NG_029519.1:g.37831G>A;NM_005069.3:c.850+1369G>A;NM_009586.2:c.850+1369G>A 120034054 73210777 chr21.37026690_27 4.21e-02 2009.02.24 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104821G>A;NG_029519.1:g.37831G>A;NM_005069.3:c.850+1369G>A;NM_009586.2:c.850+1369G>A 237978096 73210777 pilot_1_CEU_7582725_chr21_37026691 4.21e-02 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 92547 743427 TSC0115557 4.08e-02 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 5659896 743427 NT_011512.6_23682247 4.08e-02 2003.01.10 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 6651737 743427 NT_011512.7_23765279 4.08e-02 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 12507558 743427 chr21.NT_011512.8_23765238 4.08e-02 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 13444522 743427 NT_011512.8_23765238 4.08e-02 2003.10.23 2003.10.31 2000.10.05 2012.11.28 137 SC_SNP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 14808213 743427 NT_011512.9_23765239 4.08e-02 2003.11.12 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 17708875 743427 CSHL-HuCC-200402.chr21.NT_011512.9_23765239 4.08e-02 2004.02.19 2004.03.04 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 20134839 743427 CSHL-HuFF-200402.chr21.NT_011512.9_23765239 4.08e-02 2004.02.22 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 21806660 743427 WGSA-200403-chr21.chr21.NT_011512.9_23765239 4.08e-02 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 44257449 743427 hCV599943 4.08e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 85791006 743427 Cor19129_SNV_20070510.chr21_37026713 4.08e-02 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 86017769 743427 Cor18517_SNV_20070510.chr21_37026713 4.08e-02 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 86018541 743427 Cor18956_SNV_20070510.chr21_37026713 4.08e-02 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 91834684 743427 JWB-1494575 4.08e-02 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 96147485 743427 1103643115896 4.08e-02 2008.03.25 2008.03.25 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 103822080 743427 BGI_rs743427 4.08e-02 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 112461739 743427 CEU.trio.12.15.2008_3763656_chr21_37026713 4.08e-02 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 113877179 743427 NA19240_2008_12_16_3401873_chr21_37026713 4.08e-02 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 117520795 743427 NA18507_000036548_NCBI36.1_chr21_37026713 4.08e-02 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 135607451 743427 ENSSNP1974387 4.08e-02 2009.05.14 2009.10.14 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 156891624 743427 GMI_SNP_133759212 4.08e-02 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 168000966 743427 NA07022_36_chr21_37026713 4.08e-02 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 169456592 743427 NA19240_36_chr21_37026713 4.08e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 172014030 743427 NA20431_36_chr21_37026713 4.08e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 204013988 743427 BUSHMAN-chr21-37026712 4.08e-02 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 208775983 743427 BCM_CMT_1011-3231416 4.08e-02 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 228558760 743427 pilot_1_YRI_10368443_chr21_37026713 4.08e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 237978097 743427 pilot_1_CEU_7582726_chr21_37026713 4.08e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 244117306 743427 pilot_1_CHB+JPT_6002383_chr21_37026713 4.08e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 255945869 743427 SNP32850_21_37026713 4.08e-02 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 283537684 743427 GMI_AK_SNP_7858105 4.08e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38104843A>G;NG_029519.1:g.37853A>G;NM_005069.3:c.850+1391A>G;NM_009586.2:c.850+1391A>G 292708643 743427 SNP_2215001_chr21_37026713 4.08e-02 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38104898C>T;NG_029519.1:g.37908C>T;NM_005069.3:c.850+1446C>T;NM_009586.2:c.850+1446C>T 341012633 150925745 20100804_snps_12656174_chr21_38104898 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38104936G>C;NG_029519.1:g.37946G>C;NM_005069.3:c.850+1484G>C;NM_009586.2:c.850+1484G>C 341012634 140795189 20100804_snps_12656175_chr21_38104936 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105154C>G;NG_029519.1:g.38164C>G;NM_005069.3:c.850+1702C>G;NM_009586.2:c.850+1702C>G 341012635 150105602 20100804_snps_12656176_chr21_38105154 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105159G>A;NG_029519.1:g.38169G>A;NM_005069.3:c.850+1707G>A;NM_009586.2:c.850+1707G>A 466052674 187204411 20101123_snps_12219904_chr21_38105159 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38105188G>A;NG_029519.1:g.38198G>A;NM_005069.3:c.850+1736G>A;NM_009586.2:c.850+1736G>A 341012636 138477955 20100804_snps_12656177_chr21_38105188 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105329C>T;NG_029519.1:g.38339C>T;NM_005069.3:c.850+1877C>T;NM_009586.2:c.850+1877C>T 341012637 142495142 20100804_snps_12656178_chr21_38105329 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105372G>A;NG_029519.1:g.38382G>A;NM_005069.3:c.850+1920G>A;NM_009586.2:c.850+1920G>A 341012638 146748387 20100804_snps_12656179_chr21_38105372 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105384C>A;NG_029519.1:g.38394C>A;NM_005069.3:c.850+1932C>A;NM_009586.2:c.850+1932C>A 341012639 139399216 20100804_snps_12656180_chr21_38105384 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105468G>A;NG_029519.1:g.38478G>A;NM_005069.3:c.850+2016G>A;NM_009586.2:c.850+2016G>A 341012640 149424247 20100804_snps_12656181_chr21_38105468 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105542A>G;NG_029519.1:g.38552A>G;NM_005069.3:c.850+2090A>G;NM_009586.2:c.850+2090A>G 466052675 191662237 20101123_snps_12219905_chr21_38105542 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38105559T>C;NG_029519.1:g.38569T>C;NM_005069.3:c.850+2107T>C;NM_009586.2:c.850+2107T>C 341012641 144695640 20100804_snps_12656182_chr21_38105559 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 MPI_MOLGEN 6493 NC_000021.8:g.38105635C>A;NG_029519.1:g.38645C>A;NM_005069.3:c.850+2183C>A;NM_009586.2:c.850+2183C>A 469266698 186519177 Chromosome21_37027505 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 CSHL-HAPMAP 6493 NC_000021.8:g.38105644G>T;NG_029519.1:g.38654G>T;NM_005069.3:c.850+2192G>T;NM_009586.2:c.850+2192G>T 16915592 11702429 CSHL-HuAA-200402.chr21.NT_011512.9_23766040 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 ABI 6493 NC_000021.8:g.38105644G>T;NG_029519.1:g.38654G>T;NM_005069.3:c.850+2192G>T;NM_009586.2:c.850+2192G>T 41492127 11702429 hCV2990387 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 HGSV 6493 NC_000021.8:g.38105862delT;NC_000021.8:g.38105862delTinsTT;NG_029519.1:g.38872delT;NG_029519.1:g.38872delTinsTT;NM_005069.3:c.850+2410delT;NM_005069.3:c.850+2410delTinsTT;NM_009586.2:c.850+2410delT;NM_009586.2:c.850+2410delTinsTT 82024583 60888276 Cor18555_DIV_20070510.chr21_37027746-37027749_1 2007.12.02 2007.12.02 2007.12.16 2011.07.08 137 BCMHGSC_JDW 6493 NC_000021.8:g.38105876_38105877insCT;NG_029519.1:g.38886_38887insCT;NM_005069.3:c.850+2424_850+2425insCT;NM_009586.2:c.850+2424_850+2425insCT 103864904 75810017 JWB-4191222 2008.06.07 2009.05.12 2009.12.01 2011.07.08 137 ENSEMBL 6493 NC_000021.8:g.38105877T>C;NG_029519.1:g.38887T>C;NM_005069.3:c.850+2425T>C;NM_009586.2:c.850+2425T>C 138314887 76952367 ENSSNP11885121 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38105930G>A;NG_029519.1:g.38940G>A;NM_005069.3:c.850+2478G>A;NM_009586.2:c.850+2478G>A 466052676 185368019 20101123_snps_12219906_chr21_38105930 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38106013A>C;NG_029519.1:g.39023A>C;NM_005069.3:c.850+2561A>C;NM_009586.2:c.850+2561A>C 466052677 189897428 20101123_snps_12219907_chr21_38106013 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 6651738 4817818 NT_011512.7_23766498 3.53e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 14447062 4817818 chr21.NT_011512.9_23766458 3.53e-01 2003.11.07 2003.11.22 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 16915859 4817818 CSHL-HuAA-200402.chr21.NT_011512.9_23766458 3.53e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 ABI 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 41452443 4817818 hCV26794119 3.53e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 96168127 4817818 1103643115889 3.53e-01 2008.03.25 2008.03.25 2003.02.20 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 161360979 4817818 ENSSNP1974388 3.53e-01 2009.09.24 2009.09.24 2003.02.20 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 204013989 4817818 BUSHMAN-chr21-37027931 3.53e-01 2010.03.10 2010.03.10 2003.02.20 2012.11.28 137 GMI 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 283537686 4817818 GMI_AK_SNP_7858107 3.53e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 292708644 4817818 SNP_2215002_chr21_37027932 3.53e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106062C>T;NG_029519.1:g.39072C>T;NM_005069.3:c.850+2610C>T;NM_009586.2:c.850+2610C>T 341012642 4817818 20100804_snps_12656183_chr21_38106062 3.53e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106164A>C;NG_029519.1:g.39174A>C;NM_005069.3:c.850+2712A>C;NM_009586.2:c.850+2712A>C 341012643 141904330 20100804_snps_12656184_chr21_38106164 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 4015120 2835449 P00222558 2.19e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 6651739 2835449 NT_011512.7_23766645 2.19e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 14447367 2835449 chr21.NT_011512.9_23766605 2.19e-01 2003.11.07 2004.04.07 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 16916025 2835449 CSHL-HuAA-200402.chr21.NT_011512.9_23766605 2.19e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 21828258 2835449 WGSA-200403-chr21.chr21.NT_011512.9_23766605 2.19e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 24712382 2835449 afd0075639 2.19e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 44251983 2835449 hCV2990389 2.19e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 66647107 2835449 HumanHap300v1.1_rs2835449 2.19e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 67277461 2835449 HumanHap550v1.1_rs2835449 2.19e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 67679112 2835449 HumanHap650Yv1.0_rs2835449 2.19e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 70755971 2835449 HumanHap550v3.0__rs2835449 2.19e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 71329174 2835449 HumanHap650Yv3.0_rs2835449 2.19e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 75521784 2835449 ILMN_Human_1M_rs2835449 2.19e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 79149936 2835449 HumanHap300v2.0_rs2835449 2.19e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 84100653 2835449 KHS635175 2.19e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 96168128 2835449 1103643115888 2.19e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 103822081 2835449 BGI_rs2835449 2.19e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 112461743 2835449 CEU.trio.12.15.2008_3763657_chr21_37028079 2.19e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 122121468 2835449 HumanCNV370v1_C_rs2835449 2.19e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 133094336 2835449 ENSSNP1974389 2.19e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 154238742 2835449 Human610_Quadv1_B_rs2835449-128_B_F_1501742935 2.19e-01 2009.06.20 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 159415133 2835449 Human660W-Quad_v1_A_rs2835449-128_B_F_1501742935 2.19e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 160585297 2835449 HumanOmni1-Quad_v1-0_B_rs2835449-128_B_F_1501742935 2.19e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 171417764 2835449 HumanCNV370-Quadv3_C_rs2835449-128_B_F_1501742935 2.19e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 172014040 2835449 NA20431_36_chr21_37028079 2.19e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 173485091 2835449 Human1M-Duov3_B_rs2835449-128_B_F_1501742935 2.19e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 204013990 2835449 BUSHMAN-chr21-37028078 2.19e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 228558761 2835449 pilot_1_YRI_10368444_chr21_37028079 2.19e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 237978099 2835449 pilot_1_CEU_7582728_chr21_37028079 2.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 244117307 2835449 pilot_1_CHB+JPT_6002384_chr21_37028079 2.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 283537687 2835449 GMI_AK_SNP_7858108 2.19e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 292708645 2835449 SNP_2215003_chr21_37028079 2.19e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 480698542 2835449 HumanOmniExpress-12v1_C_rs2835449-131_B_F_1858601652 2.19e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106209C>T;NG_029519.1:g.39219C>T;NM_005069.3:c.850+2757C>T;NM_009586.2:c.850+2757C>T 481555436 2835449 HumanOmni1-Quad_v1-0_C_rs2835449-131_B_F_1858601652 2.19e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106231C>T;NG_029519.1:g.39241C>T;NM_005069.3:c.850+2779C>T;NM_009586.2:c.850+2779C>T 466052678 182540705 20101123_snps_12219908_chr21_38106231 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 3203188 2269192 IMS-JST023272 3.44e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 14447853 2269192 chr21.NT_011512.9_23766708 3.44e-01 2003.11.07 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 65786323 2269192 Human1-rs2269192 3.44e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 74905026 2269192 ILMN_Human_1M_rs2269192 3.44e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 85195937 2269192 Cor19240_SNV_20070510.chr21_37028182 3.44e-01 2007.12.08 2007.12.08 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 91834687 2269192 JWB-1494576 3.44e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 112461747 2269192 CEU.trio.12.15.2008_3763658_chr21_37028182 3.44e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 113877187 2269192 NA19240_2008_12_16_3401874_chr21_37028182 3.44e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 119425176 2269192 KHS1587423 3.44e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 138314888 2269192 ENSSNP11885122 3.44e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 156891628 2269192 GMI_SNP_238985993 3.44e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 160524356 2269192 HumanOmni1-Quad_v1-0_B_rs2269192-128_T_R_1513932605 3.44e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 168000978 2269192 NA07022_36_chr21_37028182 3.44e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 169456608 2269192 NA19240_36_chr21_37028182 3.44e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 173228129 2269192 Human1M-Duov3_B_rs2269192-128_T_R_1513932605 3.44e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 208801472 2269192 BCM_CMT_1011-3256905 3.44e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 228558762 2269192 pilot_1_YRI_10368445_chr21_37028182 3.44e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 237978100 2269192 pilot_1_CEU_7582729_chr21_37028182 3.44e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 244117308 2269192 pilot_1_CHB+JPT_6002385_chr21_37028182 3.44e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 255945873 2269192 SNP32851_21_37028182 3.44e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 283537688 2269192 GMI_AK_SNP_7858109 3.44e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 292708646 2269192 SNP_2215004_chr21_37028182 3.44e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 480493632 2269192 HumanOmni2.5-4v1_B_rs2269192-128_T_R_1772084712 3.44e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 480507970 2269192 HumanOmniExpress-12v1_C_rs2269192-131_T_R_1857178064 3.44e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 481311719 2269192 HumanOmni1-Quad_v1-0_C_rs2269192-131_T_R_1865273043 3.44e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106312G>T;NG_029519.1:g.39322G>T;NM_005069.3:c.850+2860G>T;NM_009586.2:c.850+2860G>T 485044323 2269192 HumanOmni2.5-4v1_D_rs2269192-131_T_R_1857178064 3.44e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106345_38106346delAG;NG_029519.1:g.39355_39356delAG;NM_005069.3:c.850+2893_850+2894delAG;NM_009586.2:c.850+2893_850+2894delAG 289434414 147416365 GMI_AK_INDEL_1111894 3.85e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106345_38106346delAG;NG_029519.1:g.39355_39356delAG;NM_005069.3:c.850+2893_850+2894delAG;NM_009586.2:c.850+2893_850+2894delAG 327986073 147416365 JPTCHB_chr21_37028214_indel 3.85e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106345_38106346delAG;NG_029519.1:g.39355_39356delAG;NM_005069.3:c.850+2893_850+2894delAG;NM_009586.2:c.850+2893_850+2894delAG 499804924 147416365 20110316_indels_chr21_38106344_38106345 3.85e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38106422C>G;NG_029519.1:g.39432C>G;NM_005069.3:c.850+2970C>G;NM_009586.2:c.850+2970C>G 96168129 71332547 1103643115891 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38106492A>G;NG_029519.1:g.39502A>G;NM_005069.3:c.850+3040A>G;NM_009586.2:c.850+3040A>G 466052679 185522519 20101123_snps_12219909_chr21_38106492 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 3203189 2269193 IMS-JST023273 2.93e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 14447775 2269193 chr21.NT_011512.9_23766939 2.93e-01 2003.11.07 2006.10.25 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 16916281 2269193 CSHL-HuAA-200402.chr21.NT_011512.9_23766939 2.93e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 17712826 2269193 CSHL-HuCC-200402.chr21.NT_011512.9_23766939 2.93e-01 2004.02.19 2004.03.04 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 19492896 2269193 CSHL-HuDD-200402.chr21.NT_011512.9_23766939 2.93e-01 2004.02.21 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 21829538 2269193 WGSA-200403-chr21.chr21.NT_011512.9_23766939 2.93e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 44241179 2269193 hCV2990390 2.93e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 66676951 2269193 HumanHap300v1.1_rs2269193 2.93e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 67239541 2269193 HumanHap550v1.1_rs2269193 2.93e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 67636113 2269193 HumanHap650Yv1.0_rs2269193 2.93e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 70717879 2269193 HumanHap550v3.0__rs2269193 2.93e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 71286032 2269193 HumanHap650Yv3.0_rs2269193 2.93e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 75576522 2269193 ILMN_Human_1M_rs2269193 2.93e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 78527140 2269193 Cor18507_SNV_20070510.chr21_37028413 2.93e-01 2007.10.19 2007.10.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 79124538 2269193 HumanHap300v2.0_rs2269193 2.93e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 84013587 2269193 KHS601881 2.93e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 84228034 2269193 Cor19129_SNV_20070510.chr21_37028413 2.93e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 96168130 2269193 1103643115892 2.93e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 103822084 2269193 BGI_rs2269193 2.93e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 112461751 2269193 CEU.trio.12.15.2008_3763659_chr21_37028413 2.93e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 113877197 2269193 NA19240_2008_12_16_3401875_chr21_37028413 2.93e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 117520797 2269193 NA18507_000036549_NCBI36.1_chr21_37028413 2.93e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 121973656 2269193 HumanCNV370v1_C_rs2269193 2.93e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 133094340 2269193 ENSSNP1974390 2.93e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 153896563 2269193 Human610_Quadv1_B_rs2269193-128_B_R_1501717586 2.93e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 156891637 2269193 GMI_SNP_37972000 2.93e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 159374405 2269193 Human660W-Quad_v1_A_rs2269193-128_B_R_1501717586 2.93e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 160524357 2269193 HumanOmni1-Quad_v1-0_B_rs2269193-128_B_R_1501717586 2.93e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 168000991 2269193 NA07022_36_chr21_37028413 2.93e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 169456624 2269193 NA19240_36_chr21_37028413 2.93e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 171137545 2269193 HumanCNV370-Quadv3_C_rs2269193-128_B_R_1501717586 2.93e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 172014049 2269193 NA20431_36_chr21_37028413 2.93e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 173228132 2269193 Human1M-Duov3_B_rs2269193-128_B_R_1501717586 2.93e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 204013991 2269193 BUSHMAN-chr21-37028412 2.93e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 208786091 2269193 BCM_CMT_1011-3241524 2.93e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 228558763 2269193 pilot_1_YRI_10368446_chr21_37028413 2.93e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 237978101 2269193 pilot_1_CEU_7582730_chr21_37028413 2.93e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 244117309 2269193 pilot_1_CHB+JPT_6002386_chr21_37028413 2.93e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 255945878 2269193 SNP32852_21_37028413 2.93e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 283537689 2269193 GMI_AK_SNP_7858110 2.93e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 292708647 2269193 SNP_2215005_chr21_37028413 2.93e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 410921219 2269193 Cardio-Metabo_Chip_11395247_A_rs2269193 2.93e-01 2011.06.07 2011.06.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 480493636 2269193 HumanOmni2.5-4v1_B_rs2269193-128_B_R_1775049711 2.93e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 480507975 2269193 HumanOmniExpress-12v1_C_rs2269193-131_B_R_1857178066 2.93e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 481311723 2269193 HumanOmni1-Quad_v1-0_C_rs2269193-131_B_R_1865318345 2.93e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106543A>C;NG_029519.1:g.39553A>C;NM_005069.3:c.850+3091A>C;NM_009586.2:c.850+3091A>C 485044325 2269193 HumanOmni2.5-4v1_D_rs2269193-131_B_R_1857178066 2.93e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38106549delG;NG_029519.1:g.39559delG;NM_005069.3:c.850+3097delG;NM_009586.2:c.850+3097delG 41457826 35893337 hCV33801729 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38106591A>G;NG_029519.1:g.39601A>G;NM_005069.3:c.850+3139A>G;NM_009586.2:c.850+3139A>G 244117310 116849186 pilot_1_CHB+JPT_6002387_chr21_37028461 0 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106617C>A;NG_029519.1:g.39627C>A;NM_005069.3:c.850+3165C>A;NM_009586.2:c.850+3165C>A 341012644 146078393 20100804_snps_12656185_chr21_38106617 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38106666G>A;NG_029519.1:g.39676G>A;NM_005069.3:c.850+3214G>A;NM_009586.2:c.850+3214G>A 212084224 78987641 YRI.trio.3.2010_1500836_chr21_37028536 1.28e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106666G>A;NG_029519.1:g.39676G>A;NM_005069.3:c.850+3214G>A;NM_009586.2:c.850+3214G>A 228558764 78987641 pilot_1_YRI_10368447_chr21_37028536 1.28e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106666G>A;NG_029519.1:g.39676G>A;NM_005069.3:c.850+3214G>A;NM_009586.2:c.850+3214G>A 480274885 78987641 HumanOmni2.5-4v1_D_kgp13221535-0_T_F_1826034762 1.28e-02 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106666G>A;NG_029519.1:g.39676G>A;NM_005069.3:c.850+3214G>A;NM_009586.2:c.850+3214G>A 484267506 78987641 HumanOmni2.5-4v1_B_SNP21-37028536-0_T_F_1624823648 1.28e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106676A>G;NG_029519.1:g.39686A>G;NM_005069.3:c.850+3224A>G;NM_009586.2:c.850+3224A>G 228558765 75244267 pilot_1_YRI_10368448_chr21_37028546 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106676A>G;NG_029519.1:g.39686A>G;NM_005069.3:c.850+3224A>G;NM_009586.2:c.850+3224A>G 480262911 75244267 HumanOmni2.5-4v1_D_kgp13171218-0_B_R_1825934146 7.30e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38106676A>G;NG_029519.1:g.39686A>G;NM_005069.3:c.850+3224A>G;NM_009586.2:c.850+3224A>G 484267508 75244267 HumanOmni2.5-4v1_B_SNP21-37028546-0_B_R_1630097142 7.30e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106737A>G;NG_029519.1:g.39747A>G;NM_005069.3:c.850+3285A>G;NM_009586.2:c.850+3285A>G 466052680 189646633 20101123_snps_12219910_chr21_38106737 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38106793C>A;NG_029519.1:g.39803C>A;NM_005069.3:c.850+3341C>A;NM_009586.2:c.850+3341C>A 341012645 139925579 20100804_snps_12656186_chr21_38106793 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6493 NC_000021.8:g.38106824_38106825insA;NG_029519.1:g.39834_39835insA;NM_005069.3:c.850+3372_850+3373insA;NM_009586.2:c.850+3372_850+3373insA 41467590 34141331 hCV33801728 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38106851_38106852insG;NG_029519.1:g.39861_39862insG;NM_005069.3:c.850+3399_850+3400insG;NM_009586.2:c.850+3399_850+3400insG 193633794 111790960 BUSHMAN-chr21-37028721-37028721 4.49e-02 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106851_38106852insG;NG_029519.1:g.39861_39862insG;NM_005069.3:c.850+3399_850+3400insG;NM_009586.2:c.850+3399_850+3400insG 328091398 111790960 CEU_chr21_37028721_indel 4.49e-02 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106851_38106852insG;NG_029519.1:g.39861_39862insG;NM_005069.3:c.850+3399_850+3400insG;NM_009586.2:c.850+3399_850+3400insG 328316697 111790960 YRI_chr21_37028721_indel 4.49e-02 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106851_38106852insG;NG_029519.1:g.39861_39862insG;NM_005069.3:c.850+3399_850+3400insG;NM_009586.2:c.850+3399_850+3400insG 499804928 111790960 20110316_indels_chr21_38106851_38106852 4.49e-02 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38106891C>A;NG_029519.1:g.39901C>A;NM_005069.3:c.850+3439C>A;NM_009586.2:c.850+3439C>A 341012646 141792130 20100804_snps_12656187_chr21_38106891 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38107017C>T;NG_029519.1:g.40027C>T;NM_005069.3:c.850+3565C>T;NM_009586.2:c.850+3565C>T 466052681 180852488 20101123_snps_12219911_chr21_38107017 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38107122C>T;NG_029519.1:g.40132C>T;NM_005069.3:c.850+3670C>T;NM_009586.2:c.850+3670C>T 466052682 184930027 20101123_snps_12219912_chr21_38107122 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6493 NC_000021.8:g.38107222C>A;NG_029519.1:g.40232C>A;NM_005069.3:c.850+3770C>A;NM_009586.2:c.850+3770C>A 156891643 75636758 GMI_SNP_509391222 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38107222C>A;NG_029519.1:g.40232C>A;NM_005069.3:c.850+3770C>A;NM_009586.2:c.850+3770C>A 283537690 75636758 GMI_AK_SNP_7858111 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38107223T>G;NG_029519.1:g.40233T>G;NM_005069.3:c.850+3771T>G;NM_009586.2:c.850+3771T>G 156891653 80116219 GMI_SNP_509660136 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38107223T>G;NG_029519.1:g.40233T>G;NM_005069.3:c.850+3771T>G;NM_009586.2:c.850+3771T>G 283537691 80116219 GMI_AK_SNP_7858112 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38107224G>A;NG_029519.1:g.40234G>A;NM_005069.3:c.850+3772G>A;NM_009586.2:c.850+3772G>A 156891661 76690512 GMI_SNP_118925432 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38107224G>A;NG_029519.1:g.40234G>A;NM_005069.3:c.850+3772G>A;NM_009586.2:c.850+3772G>A 283537692 76690512 GMI_AK_SNP_7858113 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107277G>A;NG_029519.1:g.40287G>A;NM_005069.3:c.850+3825G>A;NM_009586.2:c.850+3825G>A 237978102 117786026 pilot_1_CEU_7582731_chr21_37029147 2.30e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 10987249 7281117 chr21.NT_011512.8_23767701 3.60e-01 2003.07.01 2003.10.10 2003.07.11 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 14433466 7281117 chr21.NT_011512.9_23767702 3.60e-01 2003.11.07 2003.11.22 2003.07.11 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 82444587 7281117 Cor19240_SNV_20070510.chr21_37029176 3.60e-01 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 112461755 7281117 CEU.trio.12.15.2008_3763660_chr21_37029176 3.60e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 113877201 7281117 NA19240_2008_12_16_3401876_chr21_37029176 3.60e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 117520799 7281117 NA18507_000036550_NCBI36.1_chr21_37029176 3.60e-01 2009.01.19 2009.01.19 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 168001002 7281117 NA07022_36_chr21_37029176 3.60e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 169456640 7281117 NA19240_36_chr21_37029176 3.60e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 208799642 7281117 BCM_CMT_1011-3255075 3.60e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 228558766 7281117 pilot_1_YRI_10368449_chr21_37029176 3.60e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 237978103 7281117 pilot_1_CEU_7582732_chr21_37029176 3.60e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 244117311 7281117 pilot_1_CHB+JPT_6002388_chr21_37029176 3.60e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 255945882 7281117 SNP32853_21_37029176 3.60e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 283537693 7281117 GMI_AK_SNP_7858114 3.60e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6493 NC_000021.8:g.38107306G>C;NG_029519.1:g.40316G>C;NM_005069.3:c.850+3854G>C;NM_009586.2:c.850+3854G>C 292708648 7281117 SNP_2215006_chr21_37029176 3.60e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107310G>C;NG_029519.1:g.40320G>C;NM_005069.3:c.850+3858G>C;NM_009586.2:c.850+3858G>C 466052683 190175611 20101123_snps_12219913_chr21_38107310 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38107358C>T;NG_029519.1:g.40368C>T;NM_005069.3:c.850+3906C>T;NM_009586.2:c.850+3906C>T 466052684 181099213 20101123_snps_12219914_chr21_38107358 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38107371C>T;NG_029519.1:g.40381C>T;NM_005069.3:c.850+3919C>T;NM_009586.2:c.850+3919C>T 341012647 146242115 20100804_snps_12656188_chr21_38107371 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107378C>T;NG_029519.1:g.40388C>T;NM_005069.3:c.850+3926C>T;NM_009586.2:c.850+3926C>T 172014057 113087316 NA20431_36_chr21_37029248 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 ABI 6493 NC_000021.8:g.38107481delG;NG_029519.1:g.40491delG;NM_005069.3:c.850+4029delG;NM_009586.2:c.850+4029delG 41477064 36016758 hCV33801727 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38107503A>G;NG_029519.1:g.40513A>G;NM_005069.3:c.850+4051A>G;NM_009586.2:c.850+4051A>G 341012648 139215445 20100804_snps_12656189_chr21_38107503 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 2934695 2026260 TSC1073473 0 2001.01.26 2003.10.10 2001.04.12 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 10975989 2026260 chr21.NT_011512.8_23768012 0 2003.07.01 2003.10.10 2001.04.12 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 12501765 2026260 chr21.NT_011512.8_23768012 0 2003.07.04 2003.10.10 2001.04.12 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 14437911 2026260 chr21.NT_011512.9_23768013 0 2003.11.07 2003.11.22 2001.04.12 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 19487505 2026260 CSHL-HuDD-200402.chr21.NT_011512.9_23768013 0 2004.02.21 2004.03.04 2001.04.12 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 21830111 2026260 WGSA-200403-chr21.chr21.NT_011512.9_23768013 0 2004.03.20 2004.03.20 2001.04.12 2012.11.28 137 ABI 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 44283732 2026260 hCV11960077 0 2005.07.18 2005.07.18 2001.04.12 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 77282384 2026260 Cor12156_SNV_20070510.chr21_37029487 0 2007.10.10 2007.10.12 2001.04.12 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 91834688 2026260 JWB-1494577 0 2008.03.02 2008.03.02 2001.04.12 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 96147486 2026260 1103643115897 0 2008.03.25 2008.03.25 2001.04.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 106212816 2026260 BGI_rs2026260 0 2008.09.14 2009.06.18 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 112461759 2026260 CEU.trio.12.15.2008_3763661_chr21_37029487 0 2008.12.17 2008.12.17 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 113877210 2026260 NA19240_2008_12_16_3401877_chr21_37029487 0 2008.12.18 2008.12.18 2001.04.12 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 117520801 2026260 NA18507_000036551_NCBI36.1_chr21_37029487 0 2009.01.19 2009.01.19 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 135607447 2026260 ENSSNP1974391 0 2009.05.14 2009.10.14 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 138314889 2026260 ENSSNP7198357 0 2009.05.17 2009.05.17 2001.04.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 156891668 2026260 GMI_SNP_72446424 0 2009.06.25 2009.06.25 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 168001015 2026260 NA07022_36_chr21_37029487 0 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 169456657 2026260 NA19240_36_chr21_37029487 0 2009.10.01 2009.10.01 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 172014064 2026260 NA20431_36_chr21_37029487 0 2009.10.01 2009.10.01 2001.04.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 204013992 2026260 BUSHMAN-chr21-37029486 0 2010.03.10 2010.03.10 2001.04.12 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 208785105 2026260 BCM_CMT_1011-3240538 0 2010.03.20 2010.03.20 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 237978104 2026260 pilot_1_CEU_7582733_chr21_37029487 0 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 244117312 2026260 pilot_1_CHB+JPT_6002389_chr21_37029487 0 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 BL 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 255945891 2026260 SNP32854_21_37029487 0 2010.08.20 2010.08.20 2001.04.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 283537694 2026260 GMI_AK_SNP_7858115 0 2010.12.16 2010.12.16 2001.04.12 2012.11.28 137 PJP 6493 NC_000021.8:g.38107617G>C;NG_029519.1:g.40627G>C;NM_005069.3:c.850+4165G>C;NM_009586.2:c.850+4165G>C 292708649 2026260 SNP_2215007_chr21_37029487 0 2011.01.21 2011.01.21 2001.04.12 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 2934696 2026261 TSC1073474 0 2001.01.26 2003.10.10 2001.04.12 2012.11.28 137 BCM_SSAHASNP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 10977932 2026261 chr21.NT_011512.8_23768060 0 2003.07.01 2003.10.10 2001.04.12 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 12503635 2026261 chr21.NT_011512.8_23768060 0 2003.07.04 2003.10.10 2001.04.12 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 14438836 2026261 chr21.NT_011512.9_23768061 0 2003.11.07 2003.11.22 2001.04.12 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 19488013 2026261 CSHL-HuDD-200402.chr21.NT_011512.9_23768061 0 2004.02.21 2004.03.04 2001.04.12 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 21833214 2026261 WGSA-200403-chr21.chr21.NT_011512.9_23768061 0 2004.03.20 2004.03.20 2001.04.12 2012.11.28 137 ABI 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 44267404 2026261 hCV11960078 0 2005.07.18 2005.07.18 2001.04.12 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 77743545 2026261 Cor12156_SNV_20070510.chr21_37029535 0 2007.10.14 2007.10.14 2001.04.12 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 91834690 2026261 JWB-1494578 0 2008.03.02 2008.03.02 2001.04.12 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 96147487 2026261 1103643115898 0 2008.03.25 2008.03.25 2001.04.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 106212817 2026261 BGI_rs2026261 0 2008.09.14 2009.06.18 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 112461763 2026261 CEU.trio.12.15.2008_3763662_chr21_37029535 0 2008.12.17 2008.12.17 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 113877220 2026261 NA19240_2008_12_16_3401878_chr21_37029535 0 2008.12.18 2008.12.18 2001.04.12 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 117520803 2026261 NA18507_000036552_NCBI36.1_chr21_37029535 0 2009.01.19 2009.01.19 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 135607445 2026261 ENSSNP1974392 0 2009.05.14 2009.10.14 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 138314890 2026261 ENSSNP5978806 0 2009.05.17 2009.05.17 2001.04.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 156891675 2026261 GMI_SNP_38061022 0 2009.06.25 2009.06.25 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 168001029 2026261 NA07022_36_chr21_37029535 0 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 169456670 2026261 NA19240_36_chr21_37029535 0 2009.10.01 2009.10.01 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 172014073 2026261 NA20431_36_chr21_37029535 0 2009.10.01 2009.10.01 2001.04.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 204013993 2026261 BUSHMAN-chr21-37029534 0 2010.03.10 2010.03.10 2001.04.12 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 208769199 2026261 BCM_CMT_1011-3224632 0 2010.03.20 2010.03.20 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 228558767 2026261 pilot_1_YRI_10368450_chr21_37029535 0 2010.04.22 2010.04.22 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 237978105 2026261 pilot_1_CEU_7582734_chr21_37029535 0 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 244117313 2026261 pilot_1_CHB+JPT_6002390_chr21_37029535 0 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 BL 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 255945894 2026261 SNP32855_21_37029535 0 2010.08.20 2010.08.20 2001.04.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 283537695 2026261 GMI_AK_SNP_7858116 0 2010.12.16 2010.12.16 2001.04.12 2012.11.28 137 PJP 6493 NC_000021.8:g.38107665T>C;NG_029519.1:g.40675T>C;NM_005069.3:c.850+4213T>C;NM_009586.2:c.850+4213T>C 292708650 2026261 SNP_2215008_chr21_37029535 0 2011.01.21 2011.01.21 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107681C>T;NG_029519.1:g.40691C>T;NM_005069.3:c.850+4229C>T;NM_009586.2:c.850+4229C>T 341012649 149953618 20100804_snps_12656190_chr21_38107681 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38107699G>A;NG_029519.1:g.40709G>A;NM_005069.3:c.850+4247G>A;NM_009586.2:c.850+4247G>A 341012650 144901860 20100804_snps_12656191_chr21_38107699 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 10978227 6517379 chr21.NT_011512.8_23768100 1.93e-01 2003.07.01 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 12503932 6517379 chr21.NT_011512.8_23768100 1.93e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 14438974 6517379 chr21.NT_011512.9_23768101 1.93e-01 2003.11.07 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 19488094 6517379 CSHL-HuDD-200402.chr21.NT_011512.9_23768101 1.93e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 21833639 6517379 WGSA-200403-chr21.chr21.NT_011512.9_23768101 1.93e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 44255845 6517379 hCV26794118 1.93e-01 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 77744672 6517379 Cor12156_SNV_20070510.chr21_37029575 1.93e-01 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 91834692 6517379 JWB-1494579 1.93e-01 2008.03.02 2008.03.02 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 96168131 6517379 1103643115893 1.93e-01 2008.03.25 2008.03.25 2003.07.11 2012.11.28 137 BGI 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 103822085 6517379 BGI_rs6517379 1.93e-01 2008.06.07 2009.06.18 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 112461767 6517379 CEU.trio.12.15.2008_3763663_chr21_37029575 1.93e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 113877227 6517379 NA19240_2008_12_16_3401879_chr21_37029575 1.93e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 117520806 6517379 NA18507_000036553_NCBI36.1_chr21_37029575 1.93e-01 2009.01.19 2009.01.19 2003.07.11 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 133094342 6517379 ENSSNP1974393 1.93e-01 2009.05.12 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 138314891 6517379 ENSSNP11885125 1.93e-01 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 GMI 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 156891680 6517379 GMI_SNP_118984283 1.93e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 168001040 6517379 NA07022_36_chr21_37029575 1.93e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 169456686 6517379 NA19240_36_chr21_37029575 1.93e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 172014081 6517379 NA20431_36_chr21_37029575 1.93e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 204013994 6517379 BUSHMAN-chr21-37029574 1.93e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 208798969 6517379 BCM_CMT_1011-3254402 1.93e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 228558768 6517379 pilot_1_YRI_10368451_chr21_37029575 1.93e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 237978106 6517379 pilot_1_CEU_7582735_chr21_37029575 1.93e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 244117314 6517379 pilot_1_CHB+JPT_6002391_chr21_37029575 1.93e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 255945904 6517379 SNP32856_21_37029575 1.93e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 283537696 6517379 GMI_AK_SNP_7858117 1.93e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6493 NC_000021.8:g.38107705T>C;NG_029519.1:g.40715T>C;NM_005069.3:c.850+4253T>C;NM_009586.2:c.850+4253T>C 292708651 6517379 SNP_2215009_chr21_37029575 1.93e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107714T>C;NG_029519.1:g.40724T>C;NM_005069.3:c.850+4262T>C;NM_009586.2:c.850+4262T>C 466052685 187094933 20101123_snps_12219915_chr21_38107714 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38107775G>A;NG_029519.1:g.40785G>A;NM_005069.3:c.850+4323G>A;NM_009586.2:c.850+4323G>A 466052686 191535216 20101123_snps_12219916_chr21_38107775 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 4015121 2835450 P00222559 2.95e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 6649257 2835450 NT_011512.7_23768295 2.95e-01 2003.02.13 2006.10.25 2001.09.28 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 12504312 2835450 chr21.NT_011512.8_23768254 2.95e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 14439166 2835450 chr21.NT_011512.9_23768255 2.95e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 21834300 2835450 WGSA-200403-chr21.chr21.NT_011512.9_23768255 2.95e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 24712383 2835450 afd0075642 2.95e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 44250461 2835450 hCV2990391 2.95e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 66558299 2835450 HumanHap300v1.1_rs2835450 2.95e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 67277462 2835450 HumanHap550v1.1_rs2835450 2.95e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 67679113 2835450 HumanHap650Yv1.0_rs2835450 2.95e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 70755972 2835450 HumanHap550v3.0__rs2835450 2.95e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 71329175 2835450 HumanHap650Yv3.0_rs2835450 2.95e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 75743106 2835450 ILMN_Human_1M_rs2835450 2.95e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 77713622 2835450 Cor12156_SNV_20070510.chr21_37029729 2.95e-01 2007.10.14 2007.10.14 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 79149937 2835450 HumanHap300v2.0_rs2835450 2.95e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 84100656 2835450 KHS635176 2.95e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 96168132 2835450 1103643115894 2.95e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 103822087 2835450 BGI_rs2835450 2.95e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 122121474 2835450 HumanCNV370v1_C_rs2835450 2.95e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 133094346 2835450 ENSSNP1974394 2.95e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 154238743 2835450 Human610_Quadv1_B_rs2835450-128_T_R_1501743827 2.95e-01 2009.06.20 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 159415134 2835450 Human660W-Quad_v1_A_rs2835450-128_T_R_1501743827 2.95e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 160585298 2835450 HumanOmni1-Quad_v1-0_B_rs2835450-128_T_R_1501743827 2.95e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 171417776 2835450 HumanCNV370-Quadv3_C_rs2835450-128_T_R_1501743827 2.95e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 172014088 2835450 NA20431_36_chr21_37029729 2.95e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 173485094 2835450 Human1M-Duov3_B_rs2835450-128_T_R_1501743827 2.95e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 204013995 2835450 BUSHMAN-chr21-37029728 2.95e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 210968746 2835450 CEU.trio.3.2010_169828_chr21_37029729 2.95e-01 2010.03.29 2010.03.29 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 228558769 2835450 pilot_1_YRI_10368452_chr21_37029729 2.95e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 237978107 2835450 pilot_1_CEU_7582736_chr21_37029729 2.95e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 244117315 2835450 pilot_1_CHB+JPT_6002392_chr21_37029729 2.95e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 292708652 2835450 SNP_2215010_chr21_37029729 2.95e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 480683020 2835450 HumanOmni2.5-4v1_B_rs2835450-128_T_R_1778442746 2.95e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 480698546 2835450 HumanOmniExpress-12v1_C_rs2835450-131_T_R_1857944243 2.95e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 481555440 2835450 HumanOmni1-Quad_v1-0_C_rs2835450-131_T_R_1865637782 2.95e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38107859T>C;NG_029519.1:g.40869T>C;NM_005069.3:c.850+4407T>C;NM_009586.2:c.850+4407T>C 485136349 2835450 HumanOmni2.5-4v1_D_rs2835450-131_T_R_1857944243 2.95e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 15274835 11391010 INDEL_GP34_WGS_413546 7.80e-03 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 104735586 11391010 BGI_rs11392360 7.80e-03 2008.06.09 2008.06.09 2004.02.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 105500990 11391010 BGI_YHIndelrs11392360 7.80e-03 2008.09.10 2009.06.16 2004.02.28 2012.11.28 137 BL 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 256199751 11391010 SNP2562_21_37029745 7.80e-03 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 288549457 11391010 GMI_NA10851_INDEL_308461 7.80e-03 2010.12.22 2010.12.22 2004.02.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 289434415 11391010 GMI_AK_INDEL_1111895 7.80e-03 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 327986076 11391010 JPTCHB_chr21_37029745_indel 7.80e-03 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 328091400 11391010 CEU_chr21_37029745_indel 7.80e-03 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 328316698 11391010 YRI_chr21_37029745_indel 7.80e-03 2011.03.13 2011.04.04 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107875_38107876insC;NG_029519.1:g.40885_40886insC;NM_005069.3:c.850+4423_850+4424insC;NM_009586.2:c.850+4423_850+4424insC 499804932 11391010 20110316_indels_chr21_38107875_38107876 7.80e-03 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 15276264 11392360 INDEL_GP34_WGS_415083 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 50191007 11392360 INDEL_GP35_WGS_421201 2006.01.24 2006.01.24 2004.02.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 77940085 11392360 Cor12156_DIV_20070510.chr21_37029746-37029747_1 2007.10.16 2007.10.16 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 95751153 11392360 1104685581949 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 99493617 11392360 INDEL_GP36_2007a_397483_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 99661122 11392360 INDEL_GP36_2007a_520978_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 101231804 11392360 INDEL_GP36_2008a_520978_1 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 101231807 11392360 INDEL_GP36_2008a_520978_2 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 101231811 11392360 INDEL_GP36_2008a_520978_3 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 101231815 11392360 INDEL_GP36_2008a_520978_4 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 102084924 11392360 INDEL_GP36_2008a_397483_1 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 102084928 11392360 INDEL_GP36_2008a_397483_2 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 102084932 11392360 INDEL_GP36_2008a_397483_3 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 102084933 11392360 INDEL_GP36_2008a_397483_4 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 102084937 11392360 INDEL_GP36_2008a_397483_5 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 155827203 11392360 GMI_INDEL-163181 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38107876_38107877insC;NG_029519.1:g.40886_40887insC;NM_005069.3:c.850+4424_850+4425insC;NM_009586.2:c.850+4424_850+4425insC 295067587 11392360 DIP_505291_chr21_37029746 2011.01.23 2011.01.23 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38107898C>T;NG_029519.1:g.40908C>T;NM_005069.3:c.850+4446C>T;NM_009586.2:c.850+4446C>T 341012651 148599079 20100804_snps_12656192_chr21_38107898 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38107963T>C;NG_029519.1:g.40973T>C;NM_005069.3:c.850+4511T>C;NM_009586.2:c.850+4511T>C 204013996 111707354 BUSHMAN-chr21-37029832 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38108027C>T;NG_029519.1:g.41037C>T;NM_005069.3:c.850+4575C>T;NM_009586.2:c.850+4575C>T 341012652 144315501 20100804_snps_12656193_chr21_38108027 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38108102G>A;NG_029519.1:g.41112G>A;NM_005069.3:c.850+4650G>A;NM_009586.2:c.850+4650G>A 466052687 184229785 20101123_snps_12219917_chr21_38108102 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108122G>A;NG_029519.1:g.41132G>A;NM_005069.3:c.850+4670G>A;NM_009586.2:c.850+4670G>A 341012653 147808346 20100804_snps_12656194_chr21_38108122 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38108192C>G;NG_029519.1:g.41202C>G;NM_005069.3:c.850+4740C>G;NM_009586.2:c.850+4740C>G 204013997 112452342 BUSHMAN-chr21-37030061 4.35e-02 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108192C>G;NG_029519.1:g.41202C>G;NM_005069.3:c.850+4740C>G;NM_009586.2:c.850+4740C>G 228558770 112452342 pilot_1_YRI_10368453_chr21_37030062 4.35e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108192C>G;NG_029519.1:g.41202C>G;NM_005069.3:c.850+4740C>G;NM_009586.2:c.850+4740C>G 237978108 112452342 pilot_1_CEU_7582737_chr21_37030062 4.35e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108192C>G;NG_029519.1:g.41202C>G;NM_005069.3:c.850+4740C>G;NM_009586.2:c.850+4740C>G 483699767 112452342 HumanOmni2.5-4v1_D_kgp6303192-0_B_F_1819938208 4.35e-02 2012.02.03 2012.02.03 2010.07.04 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108192C>G;NG_029519.1:g.41202C>G;NM_005069.3:c.850+4740C>G;NM_009586.2:c.850+4740C>G 484267510 112452342 HumanOmni2.5-4v1_B_SNP21-37030062-0_B_F_1618991427 4.35e-02 2012.02.03 2012.02.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108201C>T;NG_029519.1:g.41211C>T;NM_005069.3:c.850+4749C>T;NM_009586.2:c.850+4749C>T 466052688 187184853 20101123_snps_12219918_chr21_38108201 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108205C>T;NG_029519.1:g.41215C>T;NM_005069.3:c.850+4753C>T;NM_009586.2:c.850+4753C>T 466052689 190859746 20101123_snps_12219919_chr21_38108205 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108279G>A;NG_029519.1:g.41289G>A;NM_005069.3:c.850+4827G>A;NM_009586.2:c.850+4827G>A 466052690 182347758 20101123_snps_12219920_chr21_38108279 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 2774276 1892910 TSC0919111 3.62e-02 2001.01.03 2006.10.25 2001.01.12 2012.11.28 137 WI_SSAHASNP 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 12503632 1892910 chr21.NT_011512.8_23768751 3.62e-02 2003.07.04 2003.10.10 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 228558771 1892910 pilot_1_YRI_10368454_chr21_37030226 3.62e-02 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 237978109 1892910 pilot_1_CEU_7582738_chr21_37030226 3.62e-02 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 483378263 1892910 HumanOmni2.5-4v1_D_kgp4556039-0_T_R_1819869487 3.62e-02 2012.02.02 2012.02.02 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108356C>T;NG_029519.1:g.41366C>T;NM_005069.3:c.850+4904C>T;NM_009586.2:c.850+4904C>T 484267512 1892910 HumanOmni2.5-4v1_B_SNP21-37030226-0_T_R_1631677704 3.62e-02 2012.02.03 2012.02.03 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108375C>T;NG_029519.1:g.41385C>T;NM_005069.3:c.850+4923C>T;NM_009586.2:c.850+4923C>T 341012654 141225778 20100804_snps_12656195_chr21_38108375 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38108418A>G;NG_029519.1:g.41428A>G;NM_005069.3:c.850+4966A>G;NM_009586.2:c.850+4966A>G 466052691 186676399 20101123_snps_12219921_chr21_38108418 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 2774277 1892911 TSC0919112 1.39e-01 2001.01.03 2004.05.16 2001.01.12 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 14439003 1892911 chr21.NT_011512.9_23768859 1.39e-01 2003.11.07 2003.11.22 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 75037076 1892911 ILMN_Human_1M_rs1892911 1.39e-01 2007.08.29 2007.08.29 2001.01.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 103822090 1892911 BGI_rs1892911 1.39e-01 2008.06.07 2009.06.18 2001.01.12 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 119407444 1892911 KHS1569691 1.39e-01 2009.02.04 2009.02.04 2001.01.12 2012.11.28 137 CHURCH_CG54K 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 120034055 1892911 chr21.37030329_30 1.39e-01 2009.02.24 2009.02.24 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 160473546 1892911 HumanOmni1-Quad_v1-0_B_rs1892911-128_B_F_1513998145 1.39e-01 2009.08.06 2009.10.02 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 172971919 1892911 Human1M-Duov3_B_rs1892911-128_B_F_1513998145 1.39e-01 2009.10.02 2009.10.02 2001.01.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 204013998 1892911 BUSHMAN-chr21-37030332 1.39e-01 2010.03.10 2010.03.10 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 228558773 1892911 pilot_1_YRI_10368456_chr21_37030333 1.39e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 237978110 1892911 pilot_1_CEU_7582739_chr21_37030333 1.39e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 244117316 1892911 pilot_1_CHB+JPT_6002393_chr21_37030333 1.39e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 255945906 1892911 SNP32857_21_37030333 1.39e-01 2010.08.20 2010.08.20 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 480333580 1892911 HumanOmni2.5-4v1_B_rs1892911-128_B_F_1772084713 1.39e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 480345228 1892911 HumanOmniExpress-12v1_C_rs1892911-131_B_F_1857040832 1.39e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 481109690 1892911 HumanOmni1-Quad_v1-0_C_rs1892911-131_B_F_1865564850 1.39e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38108463C>T;NG_029519.1:g.41473C>T;NM_005069.3:c.850+5011C>T;NM_009586.2:c.850+5011C>T 484964478 1892911 HumanOmni2.5-4v1_D_rs1892911-131_B_F_1857040832 1.39e-01 2012.02.04 2012.02.04 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108487T>C;NG_029519.1:g.41497T>C;NM_005069.3:c.850+5035T>C;NM_009586.2:c.850+5035T>C 212084226 115533643 YRI.trio.3.2010_1500837_chr21_37030357 8.20e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108487T>C;NG_029519.1:g.41497T>C;NM_005069.3:c.850+5035T>C;NM_009586.2:c.850+5035T>C 341012655 115533643 20100804_snps_12656196_chr21_38108487 8.20e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108531C>A;NG_029519.1:g.41541C>A;NM_005069.3:c.850+5079C>A;NM_009586.2:c.850+5079C>A 341012656 151295612 20100804_snps_12656197_chr21_38108531 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38108620C>T;NG_029519.1:g.41630C>T;NM_005069.3:c.850+5168C>T;NM_009586.2:c.850+5168C>T 466052692 191868416 20101123_snps_12219922_chr21_38108620 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38108688G>T;NG_029519.1:g.41698G>T;NM_005069.3:c.850+5236G>T;NM_009586.2:c.850+5236G>T 44250929 34668077 hCV11392375 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 ENSEMBL 6493 NC_000021.8:g.38108688G>T;NG_029519.1:g.41698G>T;NM_005069.3:c.850+5236G>T;NM_009586.2:c.850+5236G>T 161360981 34668077 ENSSNP1974395 2009.09.24 2009.09.24 2006.03.14 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 13824489 9981697 chr21.NT_011512.9_23769103 2.78e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 112461771 9981697 CEU.trio.12.15.2008_3763664_chr21_37030577 2.78e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 168001052 9981697 NA07022_36_chr21_37030577 2.78e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 208806151 9981697 BCM_CMT_1011-3261586 2.78e-01 2010.03.20 2010.03.20 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 228558774 9981697 pilot_1_YRI_10368457_chr21_37030577 2.78e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 237978111 9981697 pilot_1_CEU_7582740_chr21_37030577 2.78e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 244117317 9981697 pilot_1_CHB+JPT_6002394_chr21_37030577 2.78e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 255945916 9981697 SNP32858_21_37030577 2.78e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38108707G>A;NG_029519.1:g.41717G>A;NM_005069.3:c.850+5255G>A;NM_009586.2:c.850+5255G>A 283537697 9981697 GMI_AK_SNP_7858118 2.78e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38108708C>T;NG_029519.1:g.41718C>T;NM_005069.3:c.850+5256C>T;NM_009586.2:c.850+5256C>T 86054912 61433874 Cor18517_SNV_20070510.chr21_37030578 1.47e-02 2007.12.11 2007.12.11 2007.12.16 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108708C>T;NG_029519.1:g.41718C>T;NM_005069.3:c.850+5256C>T;NM_009586.2:c.850+5256C>T 228558775 61433874 pilot_1_YRI_10368458_chr21_37030578 1.47e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108718C>T;NG_029519.1:g.41728C>T;NM_005069.3:c.850+5266C>T;NM_009586.2:c.850+5266C>T 466052693 182916122 20101123_snps_12219923_chr21_38108718 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108729A>C;NG_029519.1:g.41739A>C;NM_005069.3:c.850+5277A>C;NM_009586.2:c.850+5277A>C 244117318 118177399 pilot_1_CHB+JPT_6002395_chr21_37030599 3.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38108729A>C;NG_029519.1:g.41739A>C;NM_005069.3:c.850+5277A>C;NM_009586.2:c.850+5277A>C 283537698 118177399 GMI_AK_SNP_7858119 3.70e-03 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108733G>A;NG_029519.1:g.41743G>A;NM_005069.3:c.850+5281G>A;NM_009586.2:c.850+5281G>A 341012659 138150087 20100804_snps_12656200_chr21_38108733 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38108774G>A;NG_029519.1:g.41784G>A;NM_005069.3:c.851-5244G>A;NM_009586.2:c.851-5244G>A 228558776 115813922 pilot_1_YRI_10368459_chr21_37030644 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ILLUMINA-UK 6493 NC_000021.8:g.38108776G>A;NG_029519.1:g.41786G>A;NM_005069.3:c.851-5242G>A;NM_009586.2:c.851-5242G>A 117520808 73902718 NA18507_000036554_NCBI36.1_chr21_37030646 6.90e-03 2009.01.19 2009.01.19 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108776G>A;NG_029519.1:g.41786G>A;NM_005069.3:c.851-5242G>A;NM_009586.2:c.851-5242G>A 228558777 73902718 pilot_1_YRI_10368460_chr21_37030646 6.90e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38108832G>A;NG_029519.1:g.41842G>A;NM_005069.3:c.851-5186G>A;NM_009586.2:c.851-5186G>A 466052694 188825165 20101123_snps_12219924_chr21_38108832 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108905C>T;NG_029519.1:g.41915C>T;NM_005069.3:c.851-5113C>T;NM_009586.2:c.851-5113C>T 466052695 192898455 20101123_snps_12219925_chr21_38108905 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108935C>T;NG_029519.1:g.41945C>T;NM_005069.3:c.851-5083C>T;NM_009586.2:c.851-5083C>T 466052696 185096440 20101123_snps_12219926_chr21_38108935 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38108936G>A;NG_029519.1:g.41946G>A;NM_005069.3:c.851-5082G>A;NM_009586.2:c.851-5082G>A 341012660 149552562 20100804_snps_12656201_chr21_38108936 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38108993A>C;NG_029519.1:g.42003A>C;NM_005069.3:c.851-5025A>C;NM_009586.2:c.851-5025A>C 19490679 12483108 CSHL-HuDD-200402.chr21.NT_011512.9_23769389 2004.02.21 2004.03.04 2004.02.28 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38109032_38109033insCCTTC;NG_029519.1:g.42042_42043insCCTTC;NM_005069.3:c.851-4986_851-4985insCCTTC;NM_009586.2:c.851-4986_851-4985insCCTTC 193633796 113175049 BUSHMAN-chr21-37030902-37030902 2010.02.17 2010.02.17 2010.07.04 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38109032_38109033insCCTTC;NG_029519.1:g.42042_42043insCCTTC;NM_005069.3:c.851-4986_851-4985insCCTTC;NM_009586.2:c.851-4986_851-4985insCCTTC 328316699 113175049 YRI_chr21_37030902_indel 2011.03.13 2011.04.04 2010.07.04 2011.10.06 137 PJP 6493 NC_000021.8:g.38109033_38109034insCCTTC;NG_029519.1:g.42043_42044insCCTTC;NM_005069.3:c.851-4985_851-4984insCCTTC;NM_009586.2:c.851-4985_851-4984insCCTTC 295067588 142363727 DIP_505292_chr21_37030903 2011.01.23 2011.01.23 2011.05.09 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38109037_38109038insCCCTT;NG_029519.1:g.42047_42048insCCCTT;NM_005069.3:c.851-4981_851-4980insCCCTT;NM_009586.2:c.851-4981_851-4980insCCCTT 99465486 71709470 INDEL_GP36_2007a_580577_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109046_38109047insCCCTT;NG_029519.1:g.42056_42057insCCCTT;NM_005069.3:c.851-4972_851-4971insCCCTT;NM_009586.2:c.851-4972_851-4971insCCCTT 95751154 71198835 1104685581950 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 GMI 6493 NC_000021.8:g.38109046_38109047insCCCTT;NG_029519.1:g.42056_42057insCCCTT;NM_005069.3:c.851-4972_851-4971insCCCTT;NM_009586.2:c.851-4972_851-4971insCCCTT 289434416 71198835 GMI_AK_INDEL_1111896 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 HGSV 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 83671441 58268868 Cor19240_SNV_20070510.chr21_37030917 1.27e-01 2007.12.05 2007.12.05 2007.12.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 135607441 58268868 ENSSNP1974396 1.27e-01 2009.05.14 2009.10.14 2007.12.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 204013999 58268868 BUSHMAN-chr21-37030916 1.27e-01 2010.03.10 2010.03.10 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 212084229 58268868 YRI.trio.3.2010_1500838_chr21_37030917 1.27e-01 2010.03.31 2010.03.31 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 228558778 58268868 pilot_1_YRI_10368461_chr21_37030917 1.27e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 237978112 58268868 pilot_1_CEU_7582741_chr21_37030917 1.27e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 244117319 58268868 pilot_1_CHB+JPT_6002396_chr21_37030917 1.27e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38109047T>C;NG_029519.1:g.42057T>C;NM_005069.3:c.851-4971T>C;NM_009586.2:c.851-4971T>C 283537699 58268868 GMI_AK_SNP_7858120 1.27e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109053_38109056delCCTC;NG_029519.1:g.42063_42066delCCTC;NM_005069.3:c.851-4965_851-4962delCCTC;NM_009586.2:c.851-4965_851-4962delCCTC 499804936 200622905 20110316_indels_chr21_38109052_38109055 4.95e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109071_38109074delTTCT;NG_029519.1:g.42081_42084delTTCT;NM_005069.3:c.851-4947_851-4944delTTCT;NM_009586.2:c.851-4947_851-4944delTTCT 327986081 144390243 JPTCHB_chr21_37030940_indel 4.41e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109071_38109074delTTCT;NG_029519.1:g.42081_42084delTTCT;NM_005069.3:c.851-4947_851-4944delTTCT;NM_009586.2:c.851-4947_851-4944delTTCT 499804940 144390243 20110316_indels_chr21_38109070_38109073 4.41e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109081delCinsCTT;NC_000021.8:g.38109081delCinsTCC;NG_029519.1:g.42091delCinsCTT;NG_029519.1:g.42091delCinsTCC;NM_005069.3:c.851-4937delCinsCTT;NM_005069.3:c.851-4937delCinsTCC;NM_009586.2:c.851-4937delCinsCTT;NM_009586.2:c.851-4937delCinsTCC 95218312 70940558 1103643115900 2008.03.21 2008.03.21 2009.02.13 2011.07.08 137 GMI 6493 NC_000021.8:g.38109081C>T;NG_029519.1:g.42091C>T;NM_005069.3:c.851-4937C>T;NM_009586.2:c.851-4937C>T 475855877 200780717 GMI_AK_SNP_8524375 2011.11.24 2011.11.24 2012.05.04 2012.05.04 137 GMI 6493 NC_000021.8:g.38109082T>C;NG_029519.1:g.42092T>C;NM_005069.3:c.851-4936T>C;NM_009586.2:c.851-4936T>C 475855878 202052930 GMI_AK_SNP_8524376 2011.11.24 2011.11.24 2012.05.04 2012.05.04 137 GMI 6493 NC_000021.8:g.38109083T>C;NG_029519.1:g.42093T>C;NM_005069.3:c.851-4935T>C;NM_009586.2:c.851-4935T>C 475855879 199863185 GMI_AK_SNP_8524377 2011.11.24 2011.11.24 2012.05.04 2012.05.04 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109087C>T;NG_029519.1:g.42097C>T;NM_005069.3:c.851-4931C>T;NM_009586.2:c.851-4931C>T 96147488 71314200 1103643115901 2008.03.25 2008.03.25 2009.02.13 2012.11.28 137 GMI 6493 NC_000021.8:g.38109087C>T;NG_029519.1:g.42097C>T;NM_005069.3:c.851-4931C>T;NM_009586.2:c.851-4931C>T 475855880 71314200 GMI_AK_SNP_8524378 2011.11.24 2011.11.24 2009.02.13 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38109096T>C;NG_029519.1:g.42106T>C;NM_005069.3:c.851-4922T>C;NM_009586.2:c.851-4922T>C 21821138 13049561 WGSA-200403-chr21.chr21.NT_011512.9_23769492 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109096T>C;NG_029519.1:g.42106T>C;NM_005069.3:c.851-4922T>C;NM_009586.2:c.851-4922T>C 96147489 13049561 1103643115902 2008.03.25 2008.03.25 2004.04.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38109096T>C;NG_029519.1:g.42106T>C;NM_005069.3:c.851-4922T>C;NM_009586.2:c.851-4922T>C 283537700 13049561 GMI_AK_SNP_7858121 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38109098T>C;NG_029519.1:g.42108T>C;NM_005069.3:c.851-4920T>C;NM_009586.2:c.851-4920T>C 208805537 113920582 BCM_CMT_1011-3260972 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38109135T>C;NG_029519.1:g.42145T>C;NM_005069.3:c.851-4883T>C;NM_009586.2:c.851-4883T>C 466052697 189361201 20101123_snps_12219927_chr21_38109135 1.10e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6493 NC_000021.8:g.38109147delT;NC_000021.8:g.38109147delTinsTTTTCTTTCTTTCT;NG_029519.1:g.42157delT;NG_029519.1:g.42157delTinsTTTTCTTTCTTTCT;NM_005069.3:c.851-4871delT;NM_005069.3:c.851-4871delTinsTTTTCTTTCTTTCT;NM_009586.2:c.851-4871delT;NM_009586.2:c.851-4871delTinsTTTTCTTTCTTTCT 288549459 148282880 GMI_NA10851_INDEL_308462 2010.12.22 2010.12.22 2011.05.09 2011.07.08 137 GMI 6493 NC_000021.8:g.38109147_38109160delTTTTCTTTCTTTCT;NG_029519.1:g.42157_42170delTTTTCTTTCTTTCT;NM_005069.3:c.851-4871_851-4858delTTTTCTTTCTTTCT;NM_009586.2:c.851-4871_851-4858delTTTTCTTTCTTTCT 289434417 145377687 GMI_AK_INDEL_1111897 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109147_38109160delTTTTCTTTCTTTCT;NG_029519.1:g.42157_42170delTTTTCTTTCTTTCT;NM_005069.3:c.851-4871_851-4858delTTTTCTTTCTTTCT;NM_009586.2:c.851-4871_851-4858delTTTTCTTTCTTTCT 327986082 145377687 JPTCHB_chr21_37031016_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109147_38109160delTTTTCTTTCTTTCT;NG_029519.1:g.42157_42170delTTTTCTTTCTTTCT;NM_005069.3:c.851-4871_851-4858delTTTTCTTTCTTTCT;NM_009586.2:c.851-4871_851-4858delTTTTCTTTCTTTCT 328091403 145377687 CEU_chr21_37031016_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109147_38109160delTTTTCTTTCTTTCT;NG_029519.1:g.42157_42170delTTTTCTTTCTTTCT;NM_005069.3:c.851-4871_851-4858delTTTTCTTTCTTTCT;NM_009586.2:c.851-4871_851-4858delTTTTCTTTCTTTCT 328316700 145377687 YRI_chr21_37031016_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109149_38109162delTTCTTTCTTTCTTT;NG_029519.1:g.42159_42172delTTCTTTCTTTCTTT;NM_005069.3:c.851-4869_851-4856delTTCTTTCTTTCTTT;NM_009586.2:c.851-4869_851-4856delTTCTTTCTTTCTTT 95751155 67713621 1104685581951 2008.03.23 2008.12.03 2009.02.06 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38109149_38109162delTTCTTTCTTTCTTT;NG_029519.1:g.42159_42172delTTCTTTCTTTCTTT;NM_005069.3:c.851-4869_851-4856delTTCTTTCTTTCTTT;NM_009586.2:c.851-4869_851-4856delTTCTTTCTTTCTTT 99551461 67713621 INDEL_GP36_2007a_580578_0 2008.05.05 2008.05.05 2009.02.06 2011.09.09 137 GMI 6493 NC_000021.8:g.38109160T>C;NG_029519.1:g.42170T>C;NM_005069.3:c.851-4858T>C;NM_009586.2:c.851-4858T>C 283537701 200155511 GMI_AK_SNP_7858122 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SSAHASNP 6493 NC_000021.8:g.38109197T>G;NG_029519.1:g.42207T>G;NM_005069.3:c.851-4821T>G;NM_009586.2:c.851-4821T>G 21821676 13049670 WGSA-200403-chr21.chr21.NT_011512.9_23769593 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 ILLUMINA-UK 6493 NC_000021.8:g.38109198T>G;NG_029519.1:g.42208T>G;NM_005069.3:c.851-4820T>G;NM_009586.2:c.851-4820T>G 117520810 74988630 NA18507_000036555_NCBI36.1_chr21_37031068 2.29e-02 2009.01.19 2009.01.19 2009.12.01 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38109198T>G;NG_029519.1:g.42208T>G;NM_005069.3:c.851-4820T>G;NM_009586.2:c.851-4820T>G 204014000 74988630 BUSHMAN-chr21-37031067 2.29e-02 2010.03.10 2010.03.10 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38109198T>G;NG_029519.1:g.42208T>G;NM_005069.3:c.851-4820T>G;NM_009586.2:c.851-4820T>G 228558781 74988630 pilot_1_YRI_10368464_chr21_37031068 2.29e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 SSAHASNP 6493 NC_000021.8:g.38109204T>C;NG_029519.1:g.42214T>C;NM_005069.3:c.851-4814T>C;NM_009586.2:c.851-4814T>C 21822098 13049756 WGSA-200403-chr21.chr21.NT_011512.9_23769600 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6493 NC_000021.8:g.38109211G>A;NC_000021.8:g.38109211G>T;NG_029519.1:g.42221G>A;NG_029519.1:g.42221G>T;NM_005069.3:c.851-4807G>A;NM_005069.3:c.851-4807G>T;NM_009586.2:c.851-4807G>A;NM_009586.2:c.851-4807G>T 21819093 13049128 WGSA-200403-chr21.chr21.NT_011512.9_23769607 1.69e-02 2004.03.20 2004.03.20 2004.04.05 2012.05.16 137 BCMHGSC_JDW 6493 NC_000021.8:g.38109211G>A;NC_000021.8:g.38109211G>T;NG_029519.1:g.42221G>A;NG_029519.1:g.42221G>T;NM_005069.3:c.851-4807G>A;NM_005069.3:c.851-4807G>T;NM_009586.2:c.851-4807G>A;NM_009586.2:c.851-4807G>T 91834694 13049128 JWB-1494580 1.69e-02 2008.03.02 2008.03.02 2004.04.05 2012.05.16 137 1000GENOMES 6493 NC_000021.8:g.38109211G>A;NC_000021.8:g.38109211G>T;NG_029519.1:g.42221G>A;NG_029519.1:g.42221G>T;NM_005069.3:c.851-4807G>A;NM_005069.3:c.851-4807G>T;NM_009586.2:c.851-4807G>A;NM_009586.2:c.851-4807G>T 237978117 13049128 pilot_1_CEU_7582746_chr21_37031081 1.69e-02 2010.05.01 2010.05.01 2004.04.05 2012.05.16 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38109280T>C;NG_029519.1:g.42290T>C;NM_005069.3:c.851-4738T>C;NM_009586.2:c.851-4738T>C 169456702 112972188 NA19240_36_chr21_37031150 4.95e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109280T>C;NG_029519.1:g.42290T>C;NM_005069.3:c.851-4738T>C;NM_009586.2:c.851-4738T>C 237978118 112972188 pilot_1_CEU_7582747_chr21_37031150 4.95e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109288C>T;NG_029519.1:g.42298C>T;NM_005069.3:c.851-4730C>T;NM_009586.2:c.851-4730C>T 113877235 73398115 NA19240_2008_12_16_3401880_chr21_37031158 4.95e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38109288C>T;NG_029519.1:g.42298C>T;NM_005069.3:c.851-4730C>T;NM_009586.2:c.851-4730C>T 169456718 73398115 NA19240_36_chr21_37031158 4.95e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109288C>T;NG_029519.1:g.42298C>T;NM_005069.3:c.851-4730C>T;NM_009586.2:c.851-4730C>T 237978119 73398115 pilot_1_CEU_7582748_chr21_37031158 4.95e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109298G>A;NG_029519.1:g.42308G>A;NM_005069.3:c.851-4720G>A;NM_009586.2:c.851-4720G>A 237978120 117082665 pilot_1_CEU_7582749_chr21_37031168 4.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109403T>C;NG_029519.1:g.42413T>C;NM_005069.3:c.851-4615T>C;NM_009586.2:c.851-4615T>C 341012662 138915891 20100804_snps_12656203_chr21_38109403 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38109455C>T;NG_029519.1:g.42465C>T;NM_005069.3:c.851-4563C>T;NM_009586.2:c.851-4563C>T 341012663 142018806 20100804_snps_12656204_chr21_38109455 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38109478T>C;NG_029519.1:g.42488T>C;NM_005069.3:c.851-4540T>C;NM_009586.2:c.851-4540T>C 341012664 146253639 20100804_snps_12656205_chr21_38109478 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38109484C>T;NG_029519.1:g.42494C>T;NM_005069.3:c.851-4534C>T;NM_009586.2:c.851-4534C>T 78816714 55976667 Cor18507_SNV_20070510.chr21_37031354 9.60e-03 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109484C>T;NG_029519.1:g.42494C>T;NM_005069.3:c.851-4534C>T;NM_009586.2:c.851-4534C>T 341012665 55976667 20100804_snps_12656206_chr21_38109484 9.60e-03 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38109544A>G;NG_029519.1:g.42554A>G;NM_005069.3:c.851-4474A>G;NM_009586.2:c.851-4474A>G 16914421 11702173 CSHL-HuAA-200402.chr21.NT_011512.9_23769940 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38109552G>A;NG_029519.1:g.42562G>A;NM_005069.3:c.851-4466G>A;NM_009586.2:c.851-4466G>A 466052698 192371605 20101123_snps_12219928_chr21_38109552 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38109557C>T;NG_029519.1:g.42567C>T;NM_005069.3:c.851-4461C>T;NM_009586.2:c.851-4461C>T 341012666 141800019 20100804_snps_12656207_chr21_38109557 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38109680C>T;NG_029519.1:g.42690C>T;NM_005069.3:c.851-4338C>T;NM_009586.2:c.851-4338C>T 237978121 75697022 pilot_1_CEU_7582750_chr21_37031550 4.21e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38109682G>C;NG_029519.1:g.42692G>C;NM_005069.3:c.851-4336G>C;NM_009586.2:c.851-4336G>C 466052699 183708070 20101123_snps_12219929_chr21_38109682 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38109699T>C;NG_029519.1:g.42709T>C;NM_005069.3:c.851-4319T>C;NM_009586.2:c.851-4319T>C 168001067 112340981 NA07022_36_chr21_37031569 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 PJP 6493 NC_000021.8:g.38109709delT;NG_029519.1:g.42719delT;NM_005069.3:c.851-4309delT;NM_009586.2:c.851-4309delT 295067589 151239841 DIP_505293_chr21_37031583 2011.01.23 2011.01.23 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38109748T>A;NG_029519.1:g.42758T>A;NM_005069.3:c.851-4270T>A;NM_009586.2:c.851-4270T>A 466052700 188074905 20101123_snps_12219930_chr21_38109748 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38109757C>G;NG_029519.1:g.42767C>G;NM_005069.3:c.851-4261C>G;NM_009586.2:c.851-4261C>G 341012667 150577907 20100804_snps_12656208_chr21_38109757 0 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38109769G>A;NG_029519.1:g.42779G>A;NM_005069.3:c.851-4249G>A;NM_009586.2:c.851-4249G>A 204014001 78549407 BUSHMAN-chr21-37031638 8.20e-03 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109769G>A;NG_029519.1:g.42779G>A;NM_005069.3:c.851-4249G>A;NM_009586.2:c.851-4249G>A 212084231 78549407 YRI.trio.3.2010_1500839_chr21_37031639 8.20e-03 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109769G>A;NG_029519.1:g.42779G>A;NM_005069.3:c.851-4249G>A;NM_009586.2:c.851-4249G>A 228558782 78549407 pilot_1_YRI_10368465_chr21_37031639 8.20e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109773G>T;NG_029519.1:g.42783G>T;NM_005069.3:c.851-4245G>T;NM_009586.2:c.851-4245G>T 237978122 76653593 pilot_1_CEU_7582751_chr21_37031643 1.47e-02 2010.05.01 2010.05.01 2009.12.01 2011.10.29 137 1000GENOMES 6493 NC_000021.8:g.38109826G>C;NG_029519.1:g.42836G>C;NM_005069.3:c.851-4192G>C;NM_009586.2:c.851-4192G>C 466052701 181312779 20101123_snps_12219931_chr21_38109826 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38109962G>C;NG_029519.1:g.42972G>C;NM_005069.3:c.851-4056G>C;NM_009586.2:c.851-4056G>C 466052702 186330374 20101123_snps_12219932_chr21_38109962 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6493 NC_000021.8:g.38109966A>C;NG_029519.1:g.42976A>C;NM_005069.3:c.851-4052A>C;NM_009586.2:c.851-4052A>C 16911027 11701519 CSHL-HuAA-200402.chr21.NT_011512.9_23770362 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38109966A>C;NG_029519.1:g.42976A>C;NM_005069.3:c.851-4052A>C;NM_009586.2:c.851-4052A>C 161360984 11701519 ENSSNP1974399 2009.09.24 2009.09.24 2004.02.28 2011.09.09 137 GMI 6493 NC_000021.8:g.38109985T>C;NG_029519.1:g.42995T>C;NM_005069.3:c.851-4033T>C;NM_009586.2:c.851-4033T>C 283537702 79431348 GMI_AK_SNP_7858123 1.14e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109985T>C;NG_029519.1:g.42995T>C;NM_005069.3:c.851-4033T>C;NM_009586.2:c.851-4033T>C 341012668 79431348 20100804_snps_12656209_chr21_38109985 1.14e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 16911034 11701520 CSHL-HuAA-200402.chr21.NT_011512.9_23770390 1.91e-01 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 21835023 11701520 WGSA-200403-chr21.chr21.NT_011512.9_23770390 1.91e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 41490351 11701520 hCV2990393 1.91e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 91834696 11701520 JWB-1494581 1.91e-01 2008.03.02 2008.03.02 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 96168133 11701520 1103643115903 1.91e-01 2008.03.25 2008.03.25 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 112461779 11701520 CEU.trio.12.15.2008_3763666_chr21_37031864 1.91e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 133094349 11701520 ENSSNP1974400 1.91e-01 2009.05.12 2010.03.07 2004.02.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 138314892 11701520 ENSSNP11885126 1.91e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 159995514 11701520 HumanOmni1-Quad_v1-0_B_rs11701520-128_T_F_1580089162 1.91e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 172014094 11701520 NA20431_36_chr21_37031864 1.91e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 204014002 11701520 BUSHMAN-chr21-37031863 1.91e-01 2010.03.10 2010.03.10 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 208806112 11701520 BCM_CMT_1011-3261547 1.91e-01 2010.03.20 2010.03.20 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 228558783 11701520 pilot_1_YRI_10368466_chr21_37031864 1.91e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 237978123 11701520 pilot_1_CEU_7582752_chr21_37031864 1.91e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 292708653 11701520 SNP_2215011_chr21_37031864 1.91e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 480047739 11701520 HumanOmni1-Quad_v1-0_C_rs11701520-131_T_F_1863275892 1.91e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 483961685 11701520 HumanOmni2.5-4v1_D_kgp7729741-0_T_F_1819988638 1.91e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38109994A>G;NG_029519.1:g.43004A>G;NM_005069.3:c.851-4024A>G;NM_009586.2:c.851-4024A>G 484267514 11701520 HumanOmni2.5-4v1_B_SNP21-37031864-0_T_F_1618984645 1.91e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110035C>T;NG_029519.1:g.43045C>T;NM_005069.3:c.851-3983C>T;NM_009586.2:c.851-3983C>T 466052703 189659633 20101123_snps_12219933_chr21_38110035 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38110070G>A;NG_029519.1:g.43080G>A;NM_005069.3:c.851-3948G>A;NM_009586.2:c.851-3948G>A 341012669 144250716 20100804_snps_12656210_chr21_38110070 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38110094C>T;NG_029519.1:g.43104C>T;NM_005069.3:c.851-3924C>T;NM_009586.2:c.851-3924C>T 96168134 71332548 1103643115904 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38110118C>T;NG_029519.1:g.43128C>T;NM_005069.3:c.851-3900C>T;NM_009586.2:c.851-3900C>T 237978124 117454683 pilot_1_CEU_7582753_chr21_37031988 6.90e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38110118C>T;NG_029519.1:g.43128C>T;NM_005069.3:c.851-3900C>T;NM_009586.2:c.851-3900C>T 475855881 117454683 GMI_AK_SNP_8524379 6.90e-03 2011.11.24 2011.11.24 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110161C>T;NG_029519.1:g.43171C>T;NM_005069.3:c.851-3857C>T;NM_009586.2:c.851-3857C>T 341012670 147765743 20100804_snps_12656211_chr21_38110161 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 2923450 2018878 TSC0115558 2.52e-01 2001.01.03 2003.10.10 2001.01.23 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 19488740 2018878 CSHL-HuDD-200402.chr21.NT_011512.9_23770566 2.52e-01 2004.02.21 2004.03.04 2001.01.23 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 168001078 2018878 NA07022_36_chr21_37032040 2.52e-01 2009.09.30 2009.09.30 2001.01.23 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 204014003 2018878 BUSHMAN-chr21-37032039 2.52e-01 2010.03.10 2010.03.10 2001.01.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 228558784 2018878 pilot_1_YRI_10368467_chr21_37032040 2.52e-01 2010.04.22 2010.04.22 2001.01.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 237978125 2018878 pilot_1_CEU_7582754_chr21_37032040 2.52e-01 2010.05.01 2010.05.01 2001.01.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 244117322 2018878 pilot_1_CHB+JPT_6002399_chr21_37032040 2.52e-01 2010.05.01 2010.05.01 2001.01.23 2012.11.28 137 BL 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 255945922 2018878 SNP32859_21_37032040 2.52e-01 2010.08.20 2010.08.20 2001.01.23 2012.11.28 137 GMI 6493 NC_000021.8:g.38110170G>T;NG_029519.1:g.43180G>T;NM_005069.3:c.851-3848G>T;NM_009586.2:c.851-3848G>T 283537703 2018878 GMI_AK_SNP_7858124 2.52e-01 2010.12.16 2010.12.16 2001.01.23 2012.11.28 137 HGSV 6493 NC_000021.8:g.38110179C>T;NG_029519.1:g.43189C>T;NM_005069.3:c.851-3839C>T;NM_009586.2:c.851-3839C>T 83503927 61693249 Cor18555_SNV_20070510.chr21_37032049 2007.12.05 2007.12.05 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38110262_38110263insAAAAAAAAAAAA;NG_029519.1:g.43272_43273insAAAAAAAAAAAA;NM_005069.3:c.851-3756_851-3755insAAAAAAAAAAAA;NM_009586.2:c.851-3756_851-3755insAAAAAAAAAAAA 96178027 71326698 1103643115905 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38110267A>C;NG_029519.1:g.43277A>C;NM_005069.3:c.851-3751A>C;NM_009586.2:c.851-3751A>C 138314893 80097566 ENSSNP11885127 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 HGSV 6493 NC_000021.8:g.38110283_38110284insAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA 80190128 61252184 Cor18507_DIV_20070510.chr21_37032153-37032154_1 2007.11.24 2007.11.24 2007.12.16 2012.05.16 137 HGSV 6493 NC_000021.8:g.38110283_38110284insAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA 83669334 61252184 Cor18517_DIV_20070510.chr21_37032153-37032154_1 2007.12.05 2007.12.05 2007.12.16 2012.05.16 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38110283_38110284insAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAA;NC_000021.8:g.38110283_38110284insAAAAAAAAAAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAA;NG_029519.1:g.43293_43294insAAAAAAAAAAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAA;NM_005069.3:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAA;NM_009586.2:c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAA 95751156 61252184 1104685581952 2008.03.23 2008.12.03 2007.12.16 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38110284_38110285insAAAAAAAAAAAAAAAAAAA;NC_000021.8:g.38110284_38110285insGC;NG_029519.1:g.43294_43295insAAAAAAAAAAAAAAAAAAA;NG_029519.1:g.43294_43295insGC;NM_005069.3:c.851-3734_851-3733insAAAAAAAAAAAAAAAAAAA;NM_005069.3:c.851-3734_851-3733insGC;NM_009586.2:c.851-3734_851-3733insAAAAAAAAAAAAAAAAAAA;NM_009586.2:c.851-3734_851-3733insGC 101224362 72133905 INDEL_GP36_2008a_2912611_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 BL 6493 NC_000021.8:g.38110284G>A;NG_029519.1:g.43294G>A;NM_005069.3:c.851-3734G>A;NM_009586.2:c.851-3734G>A 255945927 151024402 SNP32860_21_37032154 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38110284_38110285insAAAAAAAAAAAAAAAAAAA;NC_000021.8:g.38110284_38110285insGC;NG_029519.1:g.43294_43295insAAAAAAAAAAAAAAAAAAA;NG_029519.1:g.43294_43295insGC;NM_005069.3:c.851-3734_851-3733insAAAAAAAAAAAAAAAAAAA;NM_005069.3:c.851-3734_851-3733insGC;NM_009586.2:c.851-3734_851-3733insAAAAAAAAAAAAAAAAAAA;NM_009586.2:c.851-3734_851-3733insGC 328316701 72133905 YRI_chr21_37032153_indel 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38110285_38110286insA;NG_029519.1:g.43295_43296insA;NM_005069.3:c.851-3733_851-3732insA;NM_009586.2:c.851-3733_851-3732insA 96178028 71326699 1103643115907 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 BL 6493 NC_000021.8:g.38110285C>A;NG_029519.1:g.43295C>A;NM_005069.3:c.851-3733C>A;NM_009586.2:c.851-3733C>A 255945932 146243192 SNP32861_21_37032155 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38110286_38110287insA;NG_029519.1:g.43296_43297insA;NM_005069.3:c.851-3732_851-3731insA;NM_009586.2:c.851-3732_851-3731insA 100297303 67832821 INDEL_GP36_2008a_584386_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38110286_38110287insA;NG_029519.1:g.43296_43297insA;NM_005069.3:c.851-3732_851-3731insA;NM_009586.2:c.851-3732_851-3731insA 100297307 67832821 INDEL_GP36_2008a_584386_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 BL 6493 NC_000021.8:g.38110295G>A;NG_029519.1:g.43305G>A;NM_005069.3:c.851-3723G>A;NM_009586.2:c.851-3723G>A 255945940 143790827 SNP32862_21_37032165 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 BL 6493 NC_000021.8:g.38110296C>A;NG_029519.1:g.43306C>A;NM_005069.3:c.851-3722C>A;NM_009586.2:c.851-3722C>A 255945942 139412382 SNP32863_21_37032166 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 BL 6493 NC_000021.8:g.38110302G>A;NG_029519.1:g.43312G>A;NM_005069.3:c.851-3716G>A;NM_009586.2:c.851-3716G>A 255945952 150371450 SNP32864_21_37032172 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38110303A>C;NG_029519.1:g.43313A>C;NM_005069.3:c.851-3715A>C;NM_009586.2:c.851-3715A>C 228558785 115458802 pilot_1_YRI_10368468_chr21_37032173 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38110319A>C;NG_029519.1:g.43329A>C;NM_005069.3:c.851-3699A>C;NM_009586.2:c.851-3699A>C 341012671 139592033 20100804_snps_12656212_chr21_38110319 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38110340G>C;NG_029519.1:g.43350G>C;NM_005069.3:c.851-3678G>C;NM_009586.2:c.851-3678G>C 80035342 60866168 Cor18507_SNV_20070510.chr21_37032210 2.43e-02 2007.11.24 2007.11.24 2007.12.16 2011.09.09 137 ILLUMINA-UK 6493 NC_000021.8:g.38110340G>C;NG_029519.1:g.43350G>C;NM_005069.3:c.851-3678G>C;NM_009586.2:c.851-3678G>C 117520812 60866168 NA18507_000036556_NCBI36.1_chr21_37032210 2.43e-02 2009.01.19 2009.01.19 2007.12.16 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38110340G>C;NG_029519.1:g.43350G>C;NM_005069.3:c.851-3678G>C;NM_009586.2:c.851-3678G>C 204014004 60866168 BUSHMAN-chr21-37032209 2.43e-02 2010.03.10 2010.03.10 2007.12.16 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38110340G>C;NG_029519.1:g.43350G>C;NM_005069.3:c.851-3678G>C;NM_009586.2:c.851-3678G>C 228558786 60866168 pilot_1_YRI_10368469_chr21_37032210 2.43e-02 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110355G>A;NG_029519.1:g.43365G>A;NM_005069.3:c.851-3663G>A;NM_009586.2:c.851-3663G>A 13822451 9979828 chr21.NT_011512.9_23770751 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38110406G>C;NG_029519.1:g.43416G>C;NM_005069.3:c.851-3612G>C;NM_009586.2:c.851-3612G>C 466052704 181745325 20101123_snps_12219934_chr21_38110406 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110531G>A;NG_029519.1:g.43541G>A;NM_005069.3:c.851-3487G>A;NM_009586.2:c.851-3487G>A 13822692 9980055 chr21.NT_011512.9_23770927 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38110536G>A;NG_029519.1:g.43546G>A;NM_005069.3:c.851-3482G>A;NM_009586.2:c.851-3482G>A 341012672 145093001 20100804_snps_12656213_chr21_38110536 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38110546G>A;NG_029519.1:g.43556G>A;NM_005069.3:c.851-3472G>A;NM_009586.2:c.851-3472G>A 466052705 186836104 20101123_snps_12219935_chr21_38110546 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110559G>A;NG_029519.1:g.43569G>A;NM_005069.3:c.851-3459G>A;NM_009586.2:c.851-3459G>A 13822700 9980062 chr21.NT_011512.9_23770955 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110584G>A;NG_029519.1:g.43594G>A;NM_005069.3:c.851-3434G>A;NM_009586.2:c.851-3434G>A 13822706 9980068 chr21.NT_011512.9_23770980 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38110631C>A;NG_029519.1:g.43641C>A;NM_005069.3:c.851-3387C>A;NM_009586.2:c.851-3387C>A 466052706 191117563 20101123_snps_12219936_chr21_38110631 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38110634C>T;NG_029519.1:g.43644C>T;NM_005069.3:c.851-3384C>T;NM_009586.2:c.851-3384C>T 466052707 183297589 20101123_snps_12219937_chr21_38110634 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6493 NC_000021.8:g.38110662C>T;NG_029519.1:g.43672C>T;NM_005069.3:c.851-3356C>T;NM_009586.2:c.851-3356C>T 283537704 200736985 GMI_AK_SNP_7858125 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110716G>A;NG_029519.1:g.43726G>A;NM_005069.3:c.851-3302G>A;NM_009586.2:c.851-3302G>A 13825304 9982444 chr21.NT_011512.9_23771112 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 BCMHGSC_JDW 6493 NC_000021.8:g.38110787C>A;NG_029519.1:g.43797C>A;NM_005069.3:c.851-3231C>A;NM_009586.2:c.851-3231C>A 91834698 62222859 JWB-3043595 2008.03.02 2008.03.02 2008.03.24 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38110796G>A;NG_029519.1:g.43806G>A;NM_005069.3:c.851-3222G>A;NM_009586.2:c.851-3222G>A 13825335 9982472 chr21.NT_011512.9_23771192 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38110859C>T;NG_029519.1:g.43869C>T;NM_005069.3:c.851-3159C>T;NM_009586.2:c.851-3159C>T 466052708 185443413 20101123_snps_12219938_chr21_38110859 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38111112T>C;NG_029519.1:g.44122T>C;NM_005069.3:c.851-2906T>C;NM_009586.2:c.851-2906T>C 466052709 189816191 20101123_snps_12219939_chr21_38111112 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 3224926 2254456 IMS-JST035010 4.81e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 4015122 2254456 P00222560 4.81e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 14445834 2254456 chr21.NT_011512.9_23771534 4.81e-01 2003.11.07 2006.10.25 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 21823163 2254456 WGSA-200403-chr21.chr21.NT_011512.9_23771534 4.81e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 44242142 2254456 hCV2990394 4.81e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 91834701 2254456 JWB-1494582 4.81e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 96147490 2254456 1103643115910 4.81e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 103822093 2254456 BGI_rs2254456 4.81e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 112461783 2254456 CEU.trio.12.15.2008_3763667_chr21_37033008 4.81e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 117520814 2254456 NA18507_000036557_NCBI36.1_chr21_37033008 4.81e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 133094352 2254456 ENSSNP1974401 4.81e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 138314894 2254456 ENSSNP11885128 4.81e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 168001093 2254456 NA07022_36_chr21_37033008 4.81e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 172014104 2254456 NA20431_36_chr21_37033008 4.81e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 204014005 2254456 BUSHMAN-chr21-37033007 4.81e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 208784290 2254456 BCM_CMT_1011-3239723 4.81e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 212084233 2254456 YRI.trio.3.2010_1500840_chr21_37033008 4.81e-01 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 228558787 2254456 pilot_1_YRI_10368470_chr21_37033008 4.81e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 237978126 2254456 pilot_1_CEU_7582755_chr21_37033008 4.81e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 244117323 2254456 pilot_1_CHB+JPT_6002400_chr21_37033008 4.81e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 255945958 2254456 SNP32865_21_37033008 4.81e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 283537705 2254456 GMI_AK_SNP_7858126 4.81e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38111138G>C;NG_029519.1:g.44148G>C;NM_005069.3:c.851-2880G>C;NM_009586.2:c.851-2880G>C 292708654 2254456 SNP_2215012_chr21_37033008 4.81e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111161G>T;NG_029519.1:g.44171G>T;NM_005069.3:c.851-2857G>T;NM_009586.2:c.851-2857G>T 466052710 183456388 20101123_snps_12219940_chr21_38111161 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38111211_38111212insGAGA;NG_029519.1:g.44221_44222insGAGA;NM_005069.3:c.851-2807_851-2806insGAGA;NM_009586.2:c.851-2807_851-2806insGAGA 328316702 140892787 YRI_chr21_37033081_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38111243G>A;NG_029519.1:g.44253G>A;NM_005069.3:c.851-2775G>A;NM_009586.2:c.851-2775G>A 466052711 187995796 20101123_snps_12219941_chr21_38111243 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38111254C>T;NG_029519.1:g.44264C>T;NM_005069.3:c.851-2764C>T;NM_009586.2:c.851-2764C>T 341012673 145824071 20100804_snps_12656214_chr21_38111254 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38111284G>T;NG_029519.1:g.44294G>T;NM_005069.3:c.851-2734G>T;NM_009586.2:c.851-2734G>T 237978128 118169112 pilot_1_CEU_7582757_chr21_37033154 1.10e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38111284G>T;NG_029519.1:g.44294G>T;NM_005069.3:c.851-2734G>T;NM_009586.2:c.851-2734G>T 479704064 118169112 HumanOmni2.5-4v1_D_kgp11483001-0_B_F_1819808447 1.10e-02 2012.01.30 2012.01.30 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38111284G>T;NG_029519.1:g.44294G>T;NM_005069.3:c.851-2734G>T;NM_009586.2:c.851-2734G>T 484267516 118169112 HumanOmni2.5-4v1_B_SNP21-37033154-0_B_F_1618970973 1.10e-02 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38111379_38111381delCCT;NG_029519.1:g.44389_44391delCCT;NM_005069.3:c.851-2639_851-2637delCCT;NM_009586.2:c.851-2639_851-2637delCCT 96178029 71326700 1103643115908 2008.03.25 2008.03.25 2009.02.13 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38111379delC;NC_000021.8:g.38111379delCinsCCT;NG_029519.1:g.44389delC;NG_029519.1:g.44389delCinsCCT;NM_005069.3:c.851-2639delC;NM_005069.3:c.851-2639delCinsCCT;NM_009586.2:c.851-2639delC;NM_009586.2:c.851-2639delCinsCCT 101642401 72238816 INDEL_GP36_2008a_1286879_0 2008.05.17 2008.05.17 2009.02.13 2011.09.09 137 GMI 6493 NC_000021.8:g.38111379delC;NC_000021.8:g.38111379delCinsCCT;NG_029519.1:g.44389delC;NG_029519.1:g.44389delCinsCCT;NM_005069.3:c.851-2639delC;NM_005069.3:c.851-2639delCinsCCT;NM_009586.2:c.851-2639delC;NM_009586.2:c.851-2639delCinsCCT 288549461 72238816 GMI_NA10851_INDEL_308463 2010.12.22 2010.12.22 2009.02.13 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38111379_38111381delCCT;NG_029519.1:g.44389_44391delCCT;NM_005069.3:c.851-2639_851-2637delCCT;NM_009586.2:c.851-2639_851-2637delCCT 328091404 71326700 CEU_chr21_37033248_indel 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111379_38111381delCCT;NG_029519.1:g.44389_44391delCCT;NM_005069.3:c.851-2639_851-2637delCCT;NM_009586.2:c.851-2639_851-2637delCCT 328316703 71326700 YRI_chr21_37033248_indel 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111379_38111381delCCT;NG_029519.1:g.44389_44391delCCT;NM_005069.3:c.851-2639_851-2637delCCT;NM_009586.2:c.851-2639_851-2637delCCT 499804944 71326700 20110316_indels_chr21_38111378_38111380 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38111380_38111382delCTC;NG_029519.1:g.44390_44392delCTC;NM_005069.3:c.851-2638_851-2636delCTC;NM_009586.2:c.851-2638_851-2636delCTC 103656578 76796809 JWB-4086107 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 ABI 6493 NC_000021.8:g.38111385delC;NG_029519.1:g.44395delC;NM_005069.3:c.851-2633delC;NM_009586.2:c.851-2633delC 41472956 34914374 hCV26794117 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 6493 NC_000021.8:g.38111387delT;NG_029519.1:g.44397delT;NM_005069.3:c.851-2631delT;NM_009586.2:c.851-2631delT 41498086 35145856 hCV26794116 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 6493 NC_000021.8:g.38111388delC;NG_029519.1:g.44398delC;NM_005069.3:c.851-2630delC;NM_009586.2:c.851-2630delC 41473703 35177112 hCV26794115 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38111434A>G;NG_029519.1:g.44444A>G;NM_005069.3:c.851-2584A>G;NM_009586.2:c.851-2584A>G 466052712 192833661 20101123_snps_12219942_chr21_38111434 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38111470A>G;NG_029519.1:g.44480A>G;NM_005069.3:c.851-2548A>G;NM_009586.2:c.851-2548A>G 341012674 148969368 20100804_snps_12656215_chr21_38111470 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38111527T>G;NG_029519.1:g.44537T>G;NM_005069.3:c.851-2491T>G;NM_009586.2:c.851-2491T>G 204014006 112696654 BUSHMAN-chr21-37033396 1.01e-02 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111527T>G;NG_029519.1:g.44537T>G;NM_005069.3:c.851-2491T>G;NM_009586.2:c.851-2491T>G 228558788 112696654 pilot_1_YRI_10368471_chr21_37033397 1.01e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38111592T>C;NG_029519.1:g.44602T>C;NM_005069.3:c.851-2426T>C;NM_009586.2:c.851-2426T>C 341012675 143824774 20100804_snps_12656216_chr21_38111592 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6493 NC_000021.8:g.38111610_38111611insC;NG_029519.1:g.44620_44621insC;NM_005069.3:c.851-2408_851-2407insC;NM_009586.2:c.851-2408_851-2407insC 41499587 35475189 hCV33801724 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38111743T>A;NG_029519.1:g.44753T>A;NM_005069.3:c.851-2275T>A;NM_009586.2:c.851-2275T>A 466052713 183517947 20101123_snps_12219943_chr21_38111743 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38112096T>C;NG_029519.1:g.45106T>C;NM_005069.3:c.851-1922T>C;NM_009586.2:c.851-1922T>C 466052714 187283720 20101123_snps_12219944_chr21_38112096 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38112129T>C;NG_029519.1:g.45139T>C;NM_005069.3:c.851-1889T>C;NM_009586.2:c.851-1889T>C 204014007 113304508 BUSHMAN-chr21-37033998 9.60e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112129T>C;NG_029519.1:g.45139T>C;NM_005069.3:c.851-1889T>C;NM_009586.2:c.851-1889T>C 341012676 113304508 20100804_snps_12656217_chr21_38112129 9.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 193633798 112528824 BUSHMAN-chr21-37034077-37034077 4.31e-01 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 BL 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 256199755 112528824 SNP2563_21_37034077 4.31e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 289434418 112528824 GMI_AK_INDEL_1111898 4.31e-01 2010.12.30 2011.12.30 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 328091406 112528824 CEU_chr21_37034077_indel 4.31e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 328316704 112528824 YRI_chr21_37034077_indel 4.31e-01 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112207_38112208insAG;NG_029519.1:g.45217_45218insAG;NM_005069.3:c.851-1811_851-1810insAG;NM_009586.2:c.851-1811_851-1810insAG 499804948 112528824 20110316_indels_chr21_38112207_38112208 4.31e-01 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 41481975 35580430 hCV33801723 2005.07.17 2005.07.17 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 99568468 35580430 INDEL_GP36_2007a_583971_0 2008.05.05 2008.05.05 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 100183567 35580430 INDEL_GP36_2008a_583971_1 2008.05.16 2008.05.16 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 100183570 35580430 INDEL_GP36_2008a_583971_2 2008.05.16 2008.05.16 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 100183574 35580430 INDEL_GP36_2008a_583971_3 2008.05.16 2008.05.16 2006.03.15 2012.05.16 137 PJP 6493 NC_000021.8:g.38112208_38112209insAG;NC_000021.8:g.38112208_38112209insGA;NG_029519.1:g.45218_45219insAG;NG_029519.1:g.45218_45219insGA;NM_005069.3:c.851-1810_851-1809insAG;NM_005069.3:c.851-1810_851-1809insGA;NM_009586.2:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insGA 295067590 35580430 DIP_505294_chr21_37034078 2011.01.23 2011.01.23 2006.03.15 2012.05.16 137 HGSV 6493 NC_000021.8:g.38112209_38112210insAG;NG_029519.1:g.45219_45220insAG;NM_005069.3:c.851-1809_851-1808insAG;NM_009586.2:c.851-1809_851-1808insAG 77883871 56296412 Cor12156_DIV_20070510.chr21_37034079-37034080_1 2007.10.15 2007.10.15 2007.12.07 2011.09.09 137 HGSV 6493 NC_000021.8:g.38112209_38112210insAG;NG_029519.1:g.45219_45220insAG;NM_005069.3:c.851-1809_851-1808insAG;NM_009586.2:c.851-1809_851-1808insAG 83326688 56296412 Cor18517_DIV_20070510.chr21_37034079-37034080_1 2007.12.04 2007.12.04 2007.12.07 2011.09.09 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38112209_38112210insAG;NG_029519.1:g.45219_45220insAG;NM_005069.3:c.851-1809_851-1808insAG;NM_009586.2:c.851-1809_851-1808insAG 95751157 56296412 1104685581953 2008.03.23 2008.12.03 2007.12.07 2011.09.09 137 BCMHGSC_JDW 6493 NC_000021.8:g.38112209_38112210insAG;NG_029519.1:g.45219_45220insAG;NM_005069.3:c.851-1809_851-1808insAG;NM_009586.2:c.851-1809_851-1808insAG 103864906 56296412 JWB-4191223 2008.06.07 2009.05.12 2007.12.07 2011.09.09 137 GMI 6493 NC_000021.8:g.38112209_38112210insAG;NG_029519.1:g.45219_45220insAG;NM_005069.3:c.851-1809_851-1808insAG;NM_009586.2:c.851-1809_851-1808insAG 288549463 56296412 GMI_NA10851_INDEL_308464 2010.12.22 2010.12.22 2007.12.07 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NG_029519.1:g.45218_45219insAG;NM_005069.3:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insAG 101700252 67824931 INDEL_GP36_2008a_1527006_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38112208_38112209insAG;NG_029519.1:g.45218_45219insAG;NM_005069.3:c.851-1810_851-1809insAG;NM_009586.2:c.851-1810_851-1809insAG 101700253 67824931 INDEL_GP36_2008a_1527006_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 13816947 9974795 chr21.NT_011512.9_23772616 2.45e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 41497671 9974795 hCV26794114 2.45e-01 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 86066024 9974795 Cor18956_SNV_20070510.chr21_37034090 2.45e-01 2007.12.11 2007.12.11 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 96168135 9974795 1103643115911 2.45e-01 2008.03.25 2008.03.25 2003.12.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 103822095 9974795 BGI_rs9974795 2.45e-01 2008.06.07 2009.06.18 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 142537758 9974795 ENSSNP9304930 2.45e-01 2009.06.05 2009.10.16 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 168001105 9974795 NA07022_36_chr21_37034090 2.45e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 237978129 9974795 pilot_1_CEU_7582758_chr21_37034090 2.45e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 244117324 9974795 pilot_1_CHB+JPT_6002401_chr21_37034090 2.45e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 255945964 9974795 SNP32866_21_37034090 2.45e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 283537706 9974795 GMI_AK_SNP_7858127 2.45e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38112220G>A;NG_029519.1:g.45230G>A;NM_005069.3:c.851-1798G>A;NM_009586.2:c.851-1798G>A 292708655 9974795 SNP_2215013_chr21_37034090 2.45e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38112282delG;NG_029519.1:g.45292delG;NM_005069.3:c.851-1736delG;NM_009586.2:c.851-1736delG 77883870 55881667 Cor12156_DIV_20070510.chr21_37034151-37034153_1 2007.10.15 2007.10.15 2007.12.06 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38112284G>C;NG_029519.1:g.45294G>C;NM_005069.3:c.851-1734G>C;NM_009586.2:c.851-1734G>C 341012677 141427054 20100804_snps_12656218_chr21_38112284 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38112285_38112286delAA;NG_029519.1:g.45295_45296delAA;NM_005069.3:c.851-1733_851-1732delAA;NM_009586.2:c.851-1733_851-1732delAA 77883869 56260559 Cor12156_DIV_20070510.chr21_37034155-37034158_1 2007.10.15 2007.10.15 2007.12.07 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112291delG;NG_029519.1:g.45301delG;NM_005069.3:c.851-1727delG;NM_009586.2:c.851-1727delG 77883868 56309823 Cor12156_DIV_20070510.chr21_37034160-37034162_1 2007.10.15 2007.10.15 2007.12.07 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112297_38112298delAA;NG_029519.1:g.45307_45308delAA;NM_005069.3:c.851-1721_851-1720delAA;NM_009586.2:c.851-1721_851-1720delAA 77883867 55907981 Cor12156_DIV_20070510.chr21_37034167-37034170_1 2007.10.15 2007.10.15 2007.12.06 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112301delA;NG_029519.1:g.45311delA;NM_005069.3:c.851-1717delA;NM_009586.2:c.851-1717delA 77883866 55974930 Cor12156_DIV_20070510.chr21_37034172-37034174_1 2007.10.15 2007.10.15 2007.12.07 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112310delG;NC_000021.8:g.38112310delGinsGAGA;NG_029519.1:g.45320delG;NG_029519.1:g.45320delGinsGAGA;NM_005069.3:c.851-1708delG;NM_005069.3:c.851-1708delGinsGAGA;NM_009586.2:c.851-1708delG;NM_009586.2:c.851-1708delGinsGAGA 77883865 55821320 Cor12156_DIV_20070510.chr21_37034179-37034184_1 2007.10.15 2007.10.15 2007.12.06 2011.07.08 137 BL 6493 NC_000021.8:g.38112310G>A;NG_029519.1:g.45320G>A;NM_005069.3:c.851-1708G>A;NM_009586.2:c.851-1708G>A 255945970 146515134 SNP32867_21_37034180 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 6493 NC_000021.8:g.38112310G>A;NG_029519.1:g.45320G>A;NM_005069.3:c.851-1708G>A;NM_009586.2:c.851-1708G>A 283537707 146515134 GMI_AK_SNP_7858128 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38112311_38112314delAGAA;NG_029519.1:g.45321_45324delAGAA;NM_005069.3:c.851-1707_851-1704delAGAA;NM_009586.2:c.851-1707_851-1704delAGAA 100044256 71840582 INDEL_GP36_2008a_1437882_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 GMI 6493 NC_000021.8:g.38112311_38112318delAGAAAGAA;NG_029519.1:g.45321_45328delAGAAAGAA;NM_005069.3:c.851-1707_851-1700delAGAAAGAA;NM_009586.2:c.851-1707_851-1700delAGAAAGAA 289434419 201184174 GMI_AK_INDEL_1111899 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 DEVINE_LAB 6493 NC_000021.8:g.38112313_38112314insAAAGAAAG;NG_029519.1:g.45323_45324insAAAGAAAG;NM_005069.3:c.851-1705_851-1704insAAAGAAAG;NM_009586.2:c.851-1705_851-1704insAAAGAAAG 101108701 72099975 INDEL_GP36_2008a_1718024_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38112315_38112322delAGAAAGAA;NG_029519.1:g.45325_45332delAGAAAGAA;NM_005069.3:c.851-1703_851-1696delAGAAAGAA;NM_009586.2:c.851-1703_851-1696delAGAAAGAA 102363396 67341209 INDEL_GP36_2008a_1249169_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38112315_38112322delAGAAAGAA;NG_029519.1:g.45325_45332delAGAAAGAA;NM_005069.3:c.851-1703_851-1696delAGAAAGAA;NM_009586.2:c.851-1703_851-1696delAGAAAGAA 102363400 67341209 INDEL_GP36_2008a_1249169_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38112318delA;NC_000021.8:g.38112318delAinsAAGAAAGA;NG_029519.1:g.45328delA;NG_029519.1:g.45328delAinsAAGAAAGA;NM_005069.3:c.851-1700delA;NM_005069.3:c.851-1700delAinsAAGAAAGA;NM_009586.2:c.851-1700delA;NM_009586.2:c.851-1700delAinsAAGAAAGA 100561334 67664219 INDEL_GP36_2008a_1249170_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38112318delA;NC_000021.8:g.38112318delAinsAAGAAAGA;NG_029519.1:g.45328delA;NG_029519.1:g.45328delAinsAAGAAAGA;NM_005069.3:c.851-1700delA;NM_005069.3:c.851-1700delAinsAAGAAAGA;NM_009586.2:c.851-1700delA;NM_009586.2:c.851-1700delAinsAAGAAAGA 100561335 67664219 INDEL_GP36_2008a_1249170_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112321_38112322delAA;NG_029519.1:g.45331_45332delAA;NM_005069.3:c.851-1697_851-1696delAA;NM_009586.2:c.851-1697_851-1696delAA 77883864 56110972 Cor12156_DIV_20070510.chr21_37034191-37034194_1 2007.10.15 2007.10.15 2007.12.07 2011.07.08 137 HGSV 6493 NC_000021.8:g.38112325_38112326delAA;NG_029519.1:g.45335_45336delAA;NM_005069.3:c.851-1693_851-1692delAA;NM_009586.2:c.851-1693_851-1692delAA 77883863 55757322 Cor12156_DIV_20070510.chr21_37034195-37034198_1 2007.10.15 2007.10.15 2007.12.06 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38112334A>G;NG_029519.1:g.45344A>G;NM_005069.3:c.851-1684A>G;NM_009586.2:c.851-1684A>G 466052715 192626035 20101123_snps_12219945_chr21_38112334 9.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6493 NC_000021.8:g.38112357A>G;NG_029519.1:g.45367A>G;NM_005069.3:c.851-1661A>G;NM_009586.2:c.851-1661A>G 283537708 201759573 GMI_AK_SNP_7858129 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6493 NC_000021.8:g.38112357_38112358delAA;NG_029519.1:g.45367_45368delAA;NM_005069.3:c.851-1661_851-1660delAA;NM_009586.2:c.851-1661_851-1660delAA 289434420 201529447 GMI_AK_INDEL_1111900 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38112358_38112359insAG;NG_029519.1:g.45368_45369insAG;NM_005069.3:c.851-1660_851-1659insAG;NM_009586.2:c.851-1660_851-1659insAG 327986085 151240705 JPTCHB_chr21_37034228_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112358_38112359insAG;NG_029519.1:g.45368_45369insAG;NM_005069.3:c.851-1660_851-1659insAG;NM_009586.2:c.851-1660_851-1659insAG 328316705 151240705 YRI_chr21_37034228_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38112361_38112362insAAGAGA;NG_029519.1:g.45371_45372insAAGAGA;NM_005069.3:c.851-1657_851-1656insAAGAGA;NM_009586.2:c.851-1657_851-1656insAAGAGA 289434421 200133499 GMI_AK_INDEL_1111901 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38112384T>C;NG_029519.1:g.45394T>C;NM_005069.3:c.851-1634T>C;NM_009586.2:c.851-1634T>C 228558789 116343607 pilot_1_YRI_10368472_chr21_37034254 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112547C>A;NG_029519.1:g.45557C>A;NM_005069.3:c.851-1471C>A;NM_009586.2:c.851-1471C>A 341012682 138039447 20100804_snps_12656223_chr21_38112547 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112554G>A;NG_029519.1:g.45564G>A;NM_005069.3:c.851-1464G>A;NM_009586.2:c.851-1464G>A 466052716 184653128 20101123_snps_12219946_chr21_38112554 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38112613G>A;NG_029519.1:g.45623G>A;NM_005069.3:c.851-1405G>A;NM_009586.2:c.851-1405G>A 466052717 188330245 20101123_snps_12219947_chr21_38112613 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 13819931 9977504 chr21.NT_011512.9_23773177 2.04e-01 2003.11.05 2003.11.22 2003.12.05 2011.09.09 137 ABI 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 44277223 9977504 hCV2990395 2.04e-01 2005.07.18 2005.07.18 2003.12.05 2011.09.09 137 BCMHGSC_JDW 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 91834702 9977504 JWB-1494583 2.04e-01 2008.03.02 2008.03.02 2003.12.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 112461787 9977504 CEU.trio.12.15.2008_3763668_chr21_37034651 2.04e-01 2008.12.17 2008.12.17 2003.12.05 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 138314895 9977504 ENSSNP11885129 2.04e-01 2009.05.17 2009.05.17 2003.12.05 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 161360986 9977504 ENSSNP1974402 2.04e-01 2009.09.24 2010.03.07 2003.12.05 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 172014112 9977504 NA20431_36_chr21_37034651 2.04e-01 2009.10.01 2009.10.01 2003.12.05 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 204014008 9977504 BUSHMAN-chr21-37034650 2.04e-01 2010.03.10 2010.03.10 2003.12.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 212084235 9977504 YRI.trio.3.2010_1500841_chr21_37034651 2.04e-01 2010.03.31 2010.03.31 2003.12.05 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38112781G>C;NG_029519.1:g.45791G>C;NM_005069.3:c.851-1237G>C;NM_009586.2:c.851-1237G>C 237978130 9977504 pilot_1_CEU_7582759_chr21_37034651 2.04e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 137 MPI_MOLGEN 6493 NC_000021.8:g.38112851A>C;NG_029519.1:g.45861A>C;NM_005069.3:c.851-1167A>C;NM_009586.2:c.851-1167A>C 469266699 189727627 Chromosome21_37034721 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 1000GENOMES 6493 NC_000021.8:g.38113076C>T;NG_029519.1:g.46086C>T;NM_005069.3:c.851-942C>T;NM_009586.2:c.851-942C>T 341012683 149520676 20100804_snps_12656224_chr21_38113076 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113084T>C;NG_029519.1:g.46094T>C;NM_005069.3:c.851-934T>C;NM_009586.2:c.851-934T>C 466052718 192323957 20101123_snps_12219948_chr21_38113084 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38113283C>T;NG_029519.1:g.46293C>T;NM_005069.3:c.851-735C>T;NM_009586.2:c.851-735C>T 341012684 144034308 20100804_snps_12656225_chr21_38113283 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113514A>G;NG_029519.1:g.46524A>G;NM_005069.3:c.851-504A>G;NM_009586.2:c.851-504A>G 466052719 184274105 20101123_snps_12219949_chr21_38113514 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38113515A>G;NG_029519.1:g.46525A>G;NM_005069.3:c.851-503A>G;NM_009586.2:c.851-503A>G 466052720 189631421 20101123_snps_12219950_chr21_38113515 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38113665A>G;NG_029519.1:g.46675A>G;NM_005069.3:c.851-353A>G;NM_009586.2:c.851-353A>G 341012685 148280274 20100804_snps_12656226_chr21_38113665 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113675T>C;NG_029519.1:g.46685T>C;NM_005069.3:c.851-343T>C;NM_009586.2:c.851-343T>C 466052721 181177166 20101123_snps_12219951_chr21_38113675 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38113697T>G;NG_029519.1:g.46707T>G;NM_005069.3:c.851-321T>G;NM_009586.2:c.851-321T>G 341012686 142873507 20100804_snps_12656227_chr21_38113697 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113839C>T;NG_029519.1:g.46849C>T;NM_005069.3:c.851-179C>T;NM_009586.2:c.851-179C>T 466052722 186199590 20101123_snps_12219952_chr21_38113839 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38113842_38113843delGT;NG_029519.1:g.46852_46853delGT;NM_005069.3:c.851-176_851-175delGT;NM_009586.2:c.851-176_851-175delGT 328091408 146974238 CEU_chr21_37035711_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113842_38113843delGT;NG_029519.1:g.46852_46853delGT;NM_005069.3:c.851-176_851-175delGT;NM_009586.2:c.851-176_851-175delGT 328316706 146974238 YRI_chr21_37035711_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38113843_38113844delTG;NG_029519.1:g.46853_46854delTG;NM_005069.3:c.851-175_851-174delTG;NM_009586.2:c.851-175_851-174delTG 193633800 112124266 BUSHMAN-chr21-37035722-37035724 2010.02.17 2010.02.17 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113882C>T;NG_029519.1:g.46892C>T;NM_005069.3:c.851-136C>T;NM_009586.2:c.851-136C>T 341012687 147355828 20100804_snps_12656228_chr21_38113882 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113886C>T;NG_029519.1:g.46896C>T;NM_005069.3:c.851-132C>T;NM_009586.2:c.851-132C>T 466052723 189006951 20101123_snps_12219953_chr21_38113886 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38113890C>T;NG_029519.1:g.46900C>T;NM_005069.3:c.851-128C>T;NM_009586.2:c.851-128C>T 204014009 113795373 BUSHMAN-chr21-37035759 1.83e-02 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113890C>T;NG_029519.1:g.46900C>T;NM_005069.3:c.851-128C>T;NM_009586.2:c.851-128C>T 228558790 113795373 pilot_1_YRI_10368473_chr21_37035760 1.83e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113902G>A;NG_029519.1:g.46912G>A;NM_005069.3:c.851-116G>A;NM_009586.2:c.851-116G>A 228558791 77621239 pilot_1_YRI_10368474_chr21_37035772 4.60e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38113948C>T;NG_029519.1:g.46958C>T;NM_005069.3:c.851-70C>T;NM_009586.2:c.851-70C>T 341012688 139423541 20100804_snps_12656229_chr21_38113948 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38113949G>A;NG_029519.1:g.46959G>A;NM_005069.3:c.851-69G>A;NM_009586.2:c.851-69G>A 466052724 182049014 20101123_snps_12219954_chr21_38113949 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 2983785 2070519 IMS-JST005392 4.79e-01 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 3185653 2070519 SNP000571237 4.79e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 21811004 2070519 WGSA-200403-chr21.chr21.NT_011512.9_23774394 4.79e-01 2004.03.20 2006.10.26 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 44271623 2070519 hCV15867371 4.79e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 65758251 2070519 Human1-rs2070519 4.79e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 66675565 2070519 HumanHap300v1.1_rs2070519 4.79e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 67221928 2070519 HumanHap550v1.1_rs2070519 4.79e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 67616348 2070519 HumanHap650Yv1.0_rs2070519 4.79e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 69253515 2070519 PGP09630694 4.79e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 70700218 2070519 HumanHap550v3.0__rs2070519 4.79e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 71266242 2070519 HumanHap650Yv3.0_rs2070519 4.79e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 75598054 2070519 ILMN_Human_1M_rs2070519 4.79e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 79112206 2070519 HumanHap300v2.0_rs2070519 4.79e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 83964142 2070519 KHS586051 4.79e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 103822098 2070519 BGI_rs2070519 4.79e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 112461791 2070519 CEU.trio.12.15.2008_3763669_chr21_37035868 4.79e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 117520816 2070519 NA18507_000036558_NCBI36.1_chr21_37035868 4.79e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 121907793 2070519 HumanCNV370v1_C_rs2070519 4.79e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 133094355 2070519 ENSSNP1974403 4.79e-01 2009.05.12 2009.10.15 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 153843069 2070519 Human610_Quadv1_B_rs2070519-128_B_R_1501707416 4.79e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 159355770 2070519 Human660W-Quad_v1_A_rs2070519-128_B_R_1501707416 4.79e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 160497591 2070519 HumanOmni1-Quad_v1-0_B_rs2070519-128_B_R_1501707416 4.79e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 168001120 2070519 NA07022_36_chr21_37035868 4.79e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 170996461 2070519 HumanCNV370-Quadv3_C_rs2070519-128_B_R_1501707416 4.79e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 172014121 2070519 NA20431_36_chr21_37035868 4.79e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 173095064 2070519 Human1M-Duov3_B_rs2070519-128_B_R_1501707416 4.79e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 204014010 2070519 BUSHMAN-chr21-37035867 4.79e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 208801840 2070519 BCM_CMT_1011-3257273 4.79e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 212084237 2070519 YRI.trio.3.2010_1500842_chr21_37035868 4.79e-01 2010.03.31 2010.03.31 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 228558792 2070519 pilot_1_YRI_10368475_chr21_37035868 4.79e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 237978131 2070519 pilot_1_CEU_7582760_chr21_37035868 4.79e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 244117325 2070519 pilot_1_CHB+JPT_6002402_chr21_37035868 4.79e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 255945976 2070519 SNP32868_21_37035868 4.79e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 283537709 2070519 GMI_AK_SNP_7858130 4.79e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 480409486 2070519 HumanOmni2.5-4v1_B_rs2070519-128_B_R_1776826355 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 480422773 2070519 HumanOmniExpress-12v1_C_rs2070519-131_B_R_1857104353 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 481205027 2070519 HumanOmni1-Quad_v1-0_C_rs2070519-131_B_R_1865648735 4.79e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 485002282 2070519 HumanOmni2.5-4v1_D_rs2070519-131_B_R_1857104353 4.79e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 491184264 2070519 20110521_exome_692062_chr21_38113998 4.79e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38113998C>A;NG_029519.1:g.47008C>A;NM_005069.3:c.851-20C>A;NM_009586.2:c.851-20C>A 491815755 2070519 SNV-chr21-37035868 4.79e-01 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38114099C>T;NG_029519.1:g.47109C>T;NM_005069.3:c.932C>T;NM_009586.2:c.932C>T;NP_005060.1:p.Ala311Val;NP_033664.2:p.Ala311Val 491815756 201982331 SNV-chr21-37035969 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38114103C>T;NG_029519.1:g.47113C>T;NM_005069.3:c.936C>T;NM_009586.2:c.936C>T;NP_005060.1:p.Thr312=;NP_033664.2:p.Thr312= 342531784 145360261 ESP2500-chr21-38114103 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38114114A>G;NG_029519.1:g.47124A>G;NM_005069.3:c.947A>G;NM_009586.2:c.947A>G;NP_005060.1:p.Asn316Ser;NP_033664.2:p.Asn316Ser 342531785 78651590 ESP2500-chr21-38114114 variation has been flagged as failed by submitter 2011.03.27 2011.03.27 2009.12.01 2011.10.29 137 1000GENOMES 6493 NC_000021.8:g.38114149G>T;NG_029519.1:g.47159G>T;NM_005069.3:c.982G>T;NM_009586.2:c.982G>T;NP_005060.1:p.Val328Phe;NP_033664.2:p.Val328Phe 489203535 200483038 20110521_exome_275052_chr21_38114149 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114210C>G;NG_029519.1:g.47220C>G;NM_005069.3:c.998+45C>G;NM_009586.2:c.998+45C>G 228558794 75177446 pilot_1_YRI_10368477_chr21_37036080 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114210C>G;NG_029519.1:g.47220C>G;NM_005069.3:c.998+45C>G;NM_009586.2:c.998+45C>G 480260865 75177446 HumanOmni2.5-4v1_D_kgp13162577-0_B_F_1825916868 4.10e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114210C>G;NG_029519.1:g.47220C>G;NM_005069.3:c.998+45C>G;NM_009586.2:c.998+45C>G 484267518 75177446 HumanOmni2.5-4v1_B_SNP21-37036080-0_B_F_1624818531 4.10e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114210C>G;NG_029519.1:g.47220C>G;NM_005069.3:c.998+45C>G;NM_009586.2:c.998+45C>G 491184265 75177446 20110521_exome_692063_chr21_38114210 4.10e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114260C>T;NG_029519.1:g.47270C>T;NM_005069.3:c.998+95C>T;NM_009586.2:c.998+95C>T 341012689 145133721 20100804_snps_12656230_chr21_38114260 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6493 NC_000021.8:g.38114303_38114304insT;NG_029519.1:g.47313_47314insT;NM_005069.3:c.998+138_998+139insT;NM_009586.2:c.998+138_998+139insT 80508138 56795144 Cor18507_DIV_20070510.chr21_37036184-37036185_1 2007.11.25 2007.11.25 2007.12.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38114426C>T;NG_029519.1:g.47436C>T;NM_005069.3:c.998+261C>T;NM_009586.2:c.998+261C>T 466052725 186434002 20101123_snps_12219955_chr21_38114426 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 2983786 2070520 IMS-JST005394 2.71e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 3185654 2070520 SNP000571238 2.71e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 66579649 2070520 HumanHap300v1.1_rs2070520 2.71e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 67221929 2070520 HumanHap550v1.1_rs2070520 2.71e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 67616349 2070520 HumanHap650Yv1.0_rs2070520 2.71e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 69253516 2070520 PGP09630025 2.71e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 70700219 2070520 HumanHap550v3.0__rs2070520 2.71e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 71266243 2070520 HumanHap650Yv3.0_rs2070520 2.71e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 74915388 2070520 ILMN_Human_1M_rs2070520 2.71e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 79112207 2070520 HumanHap300v2.0_rs2070520 2.71e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 HGSV 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 81180469 2070520 Cor18507_SNV_20070510.chr21_37036312 2.71e-01 2007.11.28 2007.11.28 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 83964145 2070520 KHS586052 2.71e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 103822100 2070520 BGI_rs2070520 2.71e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 117520818 2070520 NA18507_000036559_NCBI36.1_chr21_37036312 2.71e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 121907796 2070520 HumanCNV370v1_C_rs2070520 2.71e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 153843073 2070520 Human610_Quadv1_B_rs2070520-128_B_R_1501702072 2.71e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 159355771 2070520 Human660W-Quad_v1_A_rs2070520-128_B_R_1501702072 2.71e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 168001133 2070520 NA07022_36_chr21_37036312 2.71e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 170996473 2070520 HumanCNV370-Quadv3_C_rs2070520-128_B_R_1501702072 2.71e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 173095067 2070520 Human1M-Duov3_B_rs2070520-128_B_R_1501702072 2.71e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 204014011 2070520 BUSHMAN-chr21-37036311 2.71e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 208801652 2070520 BCM_CMT_1011-3257085 2.71e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 212084239 2070520 YRI.trio.3.2010_1500843_chr21_37036312 2.71e-01 2010.03.31 2010.03.31 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 228558795 2070520 pilot_1_YRI_10368478_chr21_37036312 2.71e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 237978133 2070520 pilot_1_CEU_7582762_chr21_37036312 2.71e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 244117327 2070520 pilot_1_CHB+JPT_6002404_chr21_37036312 2.71e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 255945982 2070520 SNP32869_21_37036312 2.71e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 283537710 2070520 GMI_AK_SNP_7858131 2.71e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 483150514 2070520 HumanOmni2.5-4v1_D_kgp3326026-0_B_R_1820133725 2.71e-01 2012.02.02 2012.02.02 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38114442A>G;NG_029519.1:g.47452A>G;NM_005069.3:c.998+277A>G;NM_009586.2:c.998+277A>G 484267520 2070520 HumanOmni2.5-4v1_B_SNP21-37036312-0_B_R_1631678199 2.71e-01 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114517A>G;NG_029519.1:g.47527A>G;NM_005069.3:c.998+352A>G;NM_009586.2:c.998+352A>G 341012690 150525797 20100804_snps_12656231_chr21_38114517 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 6493 NC_000021.8:g.38114679G>T;NG_029519.1:g.47689G>T;NM_005069.3:c.998+514G>T;NM_009586.2:c.998+514G>T 91834704 62226260 JWB-3043596 2008.03.02 2008.03.02 2008.03.24 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38114679G>T;NG_029519.1:g.47689G>T;NM_005069.3:c.998+514G>T;NM_009586.2:c.998+514G>T 138314896 62226260 ENSSNP7091001 2009.05.17 2009.05.17 2008.03.24 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38114702T>C;NG_029519.1:g.47712T>C;NM_005069.3:c.998+537T>C;NM_009586.2:c.998+537T>C 138314897 74607002 ENSSNP11885132 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38114702_38114703insT;NG_029519.1:g.47712_47713insT;NM_005069.3:c.998+537_998+538insT;NM_009586.2:c.998+537_998+538insT 100665087 72024595 INDEL_GP36_2008a_2845559_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38114720_38114721insA;NG_029519.1:g.47730_47731insA;NM_005069.3:c.998+555_998+556insA;NM_009586.2:c.998+555_998+556insA 101662106 72277316 INDEL_GP36_2008a_2845560_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38114740A>G;NG_029519.1:g.47750A>G;NM_005069.3:c.998+575A>G;NM_009586.2:c.998+575A>G 341012692 150048079 20100804_snps_12656233_chr21_38114740 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38114768_38114769delGA;NC_000021.8:g.38114768_38114769delGAinsAG;NG_029519.1:g.47778_47779delGA;NG_029519.1:g.47778_47779delGAinsAG;NM_005069.3:c.998+603_998+604delGA;NM_005069.3:c.998+603_998+604delGAinsAG;NM_009586.2:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGAinsAG 101987879 72339999 INDEL_GP36_2008a_2032772_0 2008.05.18 2008.05.18 2009.02.13 2012.05.16 137 BGI 6493 NC_000021.8:g.38114768_38114769delGA;NC_000021.8:g.38114768_38114769delGAinsAG;NG_029519.1:g.47778_47779delGA;NG_029519.1:g.47778_47779delGAinsAG;NM_005069.3:c.998+603_998+604delGA;NM_005069.3:c.998+603_998+604delGAinsAG;NM_009586.2:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGAinsAG 104735587 72339999 BGI_YHIndel43902 2008.06.09 2009.06.16 2009.02.13 2012.05.16 137 BUSHMAN 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 193633802 113343321 BUSHMAN-chr21-37036637-37036639 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 BL 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 256199759 113343321 SNP2564_21_37036637 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 288549465 113343321 GMI_NA10851_INDEL_308465 2010.12.22 2010.12.22 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 289434422 113343321 GMI_AK_INDEL_1111902 2010.12.30 2011.12.30 2010.07.04 2012.11.28 137 PJP 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 295067591 113343321 DIP_505295_chr21_37036638 2011.01.23 2011.01.23 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 327986088 113343321 JPTCHB_chr21_37036637_indel 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 328091410 113343321 CEU_chr21_37036637_indel 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 328316707 113343321 YRI_chr21_37036637_indel 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114768_38114769delGA;NG_029519.1:g.47778_47779delGA;NM_005069.3:c.998+603_998+604delGA;NM_009586.2:c.998+603_998+604delGA 499804952 113343321 20110316_indels_chr21_38114767_38114768 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 HGSV 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 80172644 58733407 Cor18507_DIV_20070510.chr21_37036638-37036641_1 2007.11.24 2007.11.24 2007.12.15 2011.10.06 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 95751158 58733407 1104685581955 2008.03.23 2008.12.03 2007.12.15 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 100639051 58733407 INDEL_GP36_2008a_1428625_0 2008.05.17 2008.05.17 2007.12.15 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 100639054 58733407 INDEL_GP36_2008a_1428625_1 2008.05.17 2008.05.17 2007.12.15 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 100639057 58733407 INDEL_GP36_2008a_1428625_2 2008.05.17 2008.05.17 2007.12.15 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 100639059 58733407 INDEL_GP36_2008a_1428625_3 2008.05.17 2008.05.17 2007.12.15 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 100639060 58733407 INDEL_GP36_2008a_1428625_4 2008.05.17 2008.05.17 2007.12.15 2011.10.06 137 BCMHGSC_JDW 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 103656580 58733407 JWB-4086108 2008.06.06 2009.05.11 2007.12.15 2011.10.06 137 BGI 6493 NC_000021.8:g.38114769A>C;NC_000021.8:g.38114769A>G;NG_029519.1:g.47779A>C;NG_029519.1:g.47779A>G;NM_005069.3:c.998+604A>C;NM_005069.3:c.998+604A>G;NM_009586.2:c.998+604A>C;NM_009586.2:c.998+604A>G 103822102 76203348 BGI_YHSNP0165404 2008.06.07 2009.06.18 2009.12.01 2011.07.08 137 PJP 6493 NC_000021.8:g.38114769_38114770delAG;NG_029519.1:g.47779_47780delAG;NM_005069.3:c.998+604_998+605delAG;NM_009586.2:c.998+604_998+605delAG 295067592 58733407 DIP_505296_chr21_37036639 2011.01.23 2011.01.23 2007.12.15 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38114769delA;NG_029519.1:g.47779delA;NM_005069.3:c.998+604delA;NM_009586.2:c.998+604delA 499804956 200676483 20110316_indels_chr21_38114768_38114768 6.90e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114843G>A;NG_029519.1:g.47853G>A;NM_005069.3:c.998+678G>A;NM_009586.2:c.998+678G>A 466052726 190851599 20101123_snps_12219956_chr21_38114843 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38114848G>A;NG_029519.1:g.47858G>A;NM_005069.3:c.998+683G>A;NM_009586.2:c.998+683G>A 341012693 145326898 20100804_snps_12656234_chr21_38114848 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38114888A>C;NG_029519.1:g.47898A>C;NM_005069.3:c.998+723A>C;NM_009586.2:c.998+723A>C 341012694 141465475 20100804_snps_12656235_chr21_38114888 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38114919T>C;NG_029519.1:g.47929T>C;NM_005069.3:c.998+754T>C;NM_009586.2:c.998+754T>C 228558796 75576810 pilot_1_YRI_10368479_chr21_37036789 1.19e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38114940A>C;NG_029519.1:g.47950A>C;NM_005069.3:c.999-748A>C;NM_009586.2:c.999-748A>C 466052727 180897151 20101123_snps_12219957_chr21_38114940 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 4015123 2835451 P00222561 4.07e-01 2001.09.26 2004.04.07 2001.09.28 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 4974108 2835451 IMS-JST144614 4.07e-01 2002.08.12 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 14448122 2835451 chr21.NT_011512.9_23775366 4.07e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 16916513 2835451 CSHL-HuAA-200402.chr21.NT_011512.9_23775366 4.07e-01 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 21830709 2835451 WGSA-200403-chr21.chr21.NT_011512.9_23775366 4.07e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 44273358 2835451 hCV2990396 4.07e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 82860654 2835451 Cor19240_SNV_20070510.chr21_37036840 4.07e-01 2007.12.03 2007.12.03 2001.09.28 2012.11.28 137 HGSV 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 84892963 2835451 Cor19129_SNV_20070510.chr21_37036840 4.07e-01 2007.12.08 2007.12.08 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 91834706 2835451 JWB-1494584 4.07e-01 2008.03.02 2008.03.02 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 96147491 2835451 1103643115916 4.07e-01 2008.03.25 2008.03.25 2001.09.28 2012.11.28 137 BGI 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 103822104 2835451 BGI_rs2835451 4.07e-01 2008.06.07 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 112461795 2835451 CEU.trio.12.15.2008_3763670_chr21_37036840 4.07e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 113877239 2835451 NA19240_2008_12_16_3401881_chr21_37036840 4.07e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 117520820 2835451 NA18507_000036560_NCBI36.1_chr21_37036840 4.07e-01 2009.01.19 2009.01.19 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 135607433 2835451 ENSSNP1974404 4.07e-01 2009.05.14 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 138314898 2835451 ENSSNP6811333 4.07e-01 2009.05.17 2009.05.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 168001145 2835451 NA07022_36_chr21_37036840 4.07e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 169456734 2835451 NA19240_36_chr21_37036840 4.07e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 172014128 2835451 NA20431_36_chr21_37036840 4.07e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 204014012 2835451 BUSHMAN-chr21-37036839 4.07e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 208782003 2835451 BCM_CMT_1011-3237436 4.07e-01 2010.03.20 2010.03.20 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 228558797 2835451 pilot_1_YRI_10368480_chr21_37036840 4.07e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 237978134 2835451 pilot_1_CEU_7582763_chr21_37036840 4.07e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 244117328 2835451 pilot_1_CHB+JPT_6002405_chr21_37036840 4.07e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 255945988 2835451 SNP32870_21_37036840 4.07e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 283537711 2835451 GMI_AK_SNP_7858132 4.07e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6493 NC_000021.8:g.38114970G>C;NG_029519.1:g.47980G>C;NM_005069.3:c.999-718G>C;NM_009586.2:c.999-718G>C 292708656 2835451 SNP_2215014_chr21_37036840 4.07e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115149A>G;NG_029519.1:g.48159A>G;NM_005069.3:c.999-539A>G;NM_009586.2:c.999-539A>G 466052728 185948525 20101123_snps_12219958_chr21_38115149 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38115249C>T;NG_029519.1:g.48259C>T;NM_005069.3:c.999-439C>T;NM_009586.2:c.999-439C>T 466052729 191282505 20101123_snps_12219959_chr21_38115249 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38115266C>T;NG_029519.1:g.48276C>T;NM_005069.3:c.999-422C>T;NM_009586.2:c.999-422C>T 466052730 183191979 20101123_snps_12219960_chr21_38115266 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38115278T>C;NG_029519.1:g.48288T>C;NM_005069.3:c.999-410T>C;NM_009586.2:c.999-410T>C 341012695 143869151 20100804_snps_12656236_chr21_38115278 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38115514A>G;NG_029519.1:g.48524A>G;NM_005069.3:c.999-174A>G;NM_009586.2:c.999-174A>G 341012696 146794308 20100804_snps_12656237_chr21_38115514 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38115572C>T;NG_029519.1:g.48582C>T;NM_005069.3:c.999-116C>T;NM_009586.2:c.999-116C>T 466052731 187492900 20101123_snps_12219961_chr21_38115572 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38115668G>A;NG_029519.1:g.48678G>A;NM_005069.3:c.999-20G>A;NM_009586.2:c.999-20G>A 341012697 140462434 20100804_snps_12656238_chr21_38115668 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115668G>A;NG_029519.1:g.48678G>A;NM_005069.3:c.999-20G>A;NM_009586.2:c.999-20G>A 491184266 140462434 20110521_exome_692064_chr21_38115668 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115676C>G;NG_029519.1:g.48686C>G;NM_005069.3:c.999-12C>G;NM_009586.2:c.999-12C>G 489203537 199980367 20110521_exome_275053_chr21_38115676 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115678C>T;NG_029519.1:g.48688C>T;NM_005069.3:c.999-10C>T;NM_009586.2:c.999-10C>T 489203539 201838382 20110521_exome_275054_chr21_38115678 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115689G>A;NG_029519.1:g.48699G>A;NM_005069.3:c.1000G>A;NM_009586.2:c.1000G>A;NP_005060.1:p.Glu334Lys;NP_033664.2:p.Glu334Lys 341012698 143650216 20100804_snps_12656239_chr21_38115689 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38115689G>A;NG_029519.1:g.48699G>A;NM_005069.3:c.1000G>A;NM_009586.2:c.1000G>A;NP_005060.1:p.Glu334Lys;NP_033664.2:p.Glu334Lys 342531786 143650216 ESP2500-chr21-38115689 5.00e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115689G>A;NG_029519.1:g.48699G>A;NM_005069.3:c.1000G>A;NM_009586.2:c.1000G>A;NP_005060.1:p.Glu334Lys;NP_033664.2:p.Glu334Lys 491184267 143650216 20110521_exome_692065_chr21_38115689 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38115689G>A;NG_029519.1:g.48699G>A;NM_005069.3:c.1000G>A;NM_009586.2:c.1000G>A;NP_005060.1:p.Glu334Lys;NP_033664.2:p.Glu334Lys 491565619 143650216 splice_281845_chr_21_38115689 5.00e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38115763C>G;NG_029519.1:g.48773C>G;NM_005069.3:c.1074C>G;NM_009586.2:c.1074C>G;NP_005060.1:p.Thr358=;NP_033664.2:p.Thr358= 204014013 111561480 BUSHMAN-chr21-37037632 3.20e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115763C>G;NG_029519.1:g.48773C>G;NM_005069.3:c.1074C>G;NM_009586.2:c.1074C>G;NP_005060.1:p.Thr358=;NP_033664.2:p.Thr358= 341012699 111561480 20100804_snps_12656240_chr21_38115763 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38115763C>G;NG_029519.1:g.48773C>G;NM_005069.3:c.1074C>G;NM_009586.2:c.1074C>G;NP_005060.1:p.Thr358=;NP_033664.2:p.Thr358= 342531787 111561480 ESP2500-chr21-38115763 3.20e-03 2011.03.27 2011.03.27 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115763C>G;NG_029519.1:g.48773C>G;NM_005069.3:c.1074C>G;NM_009586.2:c.1074C>G;NP_005060.1:p.Thr358=;NP_033664.2:p.Thr358= 491184268 111561480 20110521_exome_692066_chr21_38115763 3.20e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115827A>G;NG_029519.1:g.48837A>G;NM_005069.3:c.1138A>G;NM_009586.2:c.1138A>G;NP_005060.1:p.Lys380Glu;NP_033664.2:p.Lys380Glu 341012700 140977260 20100804_snps_12656241_chr21_38115827 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38115827A>G;NG_029519.1:g.48837A>G;NM_005069.3:c.1138A>G;NM_009586.2:c.1138A>G;NP_005060.1:p.Lys380Glu;NP_033664.2:p.Lys380Glu 491184269 140977260 20110521_exome_692067_chr21_38115827 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38115861C>T;NG_029519.1:g.48871C>T;NM_005069.3:c.1167+5C>T;NM_009586.2:c.1167+5C>T 204014014 113607866 BUSHMAN-chr21-37037730 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38115864G>A;NG_029519.1:g.48874G>A;NM_005069.3:c.1167+8G>A;NM_009586.2:c.1167+8G>A 341012701 150148817 20100804_snps_12656242_chr21_38115864 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116021G>A;NG_029519.1:g.49031G>A;NM_005069.3:c.1167+165G>A;NM_009586.2:c.1167+165G>A 341012702 138791805 20100804_snps_12656243_chr21_38116021 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116038C>T;NG_029519.1:g.49048C>T;NM_005069.3:c.1167+182C>T;NM_009586.2:c.1167+182C>T 466052732 190470625 20101123_snps_12219962_chr21_38116038 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38116109G>A;NG_029519.1:g.49119G>A;NM_005069.3:c.1167+253G>A;NM_009586.2:c.1167+253G>A 228558798 116436402 pilot_1_YRI_10368481_chr21_37037979 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116266T>A;NG_029519.1:g.49276T>A;NM_005069.3:c.1167+410T>A;NM_009586.2:c.1167+410T>A 466052733 182717098 20101123_snps_12219963_chr21_38116266 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38116267C>T;NG_029519.1:g.49277C>T;NM_005069.3:c.1167+411C>T;NM_009586.2:c.1167+411C>T 237978136 117768567 pilot_1_CEU_7582765_chr21_37038137 4.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38116267C>T;NG_029519.1:g.49277C>T;NM_005069.3:c.1167+411C>T;NM_009586.2:c.1167+411C>T 479411813 117768567 HumanOmni2.5-4v1_D_kgp1069568-0_B_F_1819901751 4.60e-03 2012.01.30 2012.01.30 2010.07.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38116267C>T;NG_029519.1:g.49277C>T;NM_005069.3:c.1167+411C>T;NM_009586.2:c.1167+411C>T 484267522 117768567 HumanOmni2.5-4v1_B_SNP21-37038137-0_B_F_1641347443 4.60e-03 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38116272G>A;NG_029519.1:g.49282G>A;NM_005069.3:c.1167+416G>A;NM_009586.2:c.1167+416G>A 103822106 74388934 BGI_YHSNP0165405 6.59e-02 2008.06.07 2009.06.18 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38116272G>A;NG_029519.1:g.49282G>A;NM_005069.3:c.1167+416G>A;NM_009586.2:c.1167+416G>A 208803964 74388934 BCM_CMT_1011-3259397 6.59e-02 2010.03.20 2010.03.20 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116272G>A;NG_029519.1:g.49282G>A;NM_005069.3:c.1167+416G>A;NM_009586.2:c.1167+416G>A 237978137 74388934 pilot_1_CEU_7582766_chr21_37038142 6.59e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116272G>A;NG_029519.1:g.49282G>A;NM_005069.3:c.1167+416G>A;NM_009586.2:c.1167+416G>A 244117329 74388934 pilot_1_CHB+JPT_6002406_chr21_37038142 6.59e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38116272G>A;NG_029519.1:g.49282G>A;NM_005069.3:c.1167+416G>A;NM_009586.2:c.1167+416G>A 283537712 74388934 GMI_AK_SNP_7858133 6.59e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116476T>C;NG_029519.1:g.49486T>C;NM_005069.3:c.1168-553T>C;NM_009586.2:c.1168-553T>C 341012703 142915091 20100804_snps_12656244_chr21_38116476 1.10e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116486C>G;NG_029519.1:g.49496C>G;NM_005069.3:c.1168-543C>G;NM_009586.2:c.1168-543C>G 466052734 187785352 20101123_snps_12219964_chr21_38116486 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6493 NC_000021.8:g.38116560A>G;NG_029519.1:g.49570A>G;NM_005069.3:c.1168-469A>G;NM_009586.2:c.1168-469A>G 4015124 2835452 P00222562 2001.09.26 2004.04.07 2001.09.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116578A>G;NG_029519.1:g.49588A>G;NM_005069.3:c.1168-451A>G;NM_009586.2:c.1168-451A>G 341012704 147418572 20100804_snps_12656245_chr21_38116578 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116611_38116612insC;NG_029519.1:g.49621_49622insC;NM_005069.3:c.1168-418_1168-417insC;NM_009586.2:c.1168-418_1168-417insC 499804960 202072218 20110316_indels_chr21_38116611_38116612 2.44e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 ABI 6493 NC_000021.8:g.38116612_38116613insC;NG_029519.1:g.49622_49623insC;NM_005069.3:c.1168-417_1168-416insC;NM_009586.2:c.1168-417_1168-416insC 41473827 35690458 hCV33801722 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38116612delC;NG_029519.1:g.49622delC;NM_005069.3:c.1168-417delC;NM_009586.2:c.1168-417delC 96178030 71326701 1103643115915 2008.03.25 2008.03.25 2009.02.13 2011.09.09 137 PJP 6493 NC_000021.8:g.38116612delC;NG_029519.1:g.49622delC;NM_005069.3:c.1168-417delC;NM_009586.2:c.1168-417delC 295067593 71326701 DIP_505297_chr21_37038482 2011.01.23 2011.01.23 2009.02.13 2011.09.09 137 HGSV 6493 NC_000021.8:g.38116613delA;NG_029519.1:g.49623delA;NM_005069.3:c.1168-416delA;NM_009586.2:c.1168-416delA 80936908 60354140 Cor12878_DIV_20070510.chr21_37038498-37038500_1 2007.11.27 2007.11.27 2007.12.15 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38116613_38116614insA;NG_029519.1:g.49623_49624insA;NM_005069.3:c.1168-416_1168-415insA;NM_009586.2:c.1168-416_1168-415insA 100966591 68156903 INDEL_GP36_2008a_1610998_0 2008.05.17 2008.05.17 2009.02.07 2011.07.08 137 DEVINE_LAB 6493 NC_000021.8:g.38116613_38116614insA;NG_029519.1:g.49623_49624insA;NM_005069.3:c.1168-416_1168-415insA;NM_009586.2:c.1168-416_1168-415insA 100966596 68156903 INDEL_GP36_2008a_1610998_1 2008.05.17 2008.05.17 2009.02.07 2011.07.08 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38116613A>C;NG_029519.1:g.49623A>C;NM_005069.3:c.1168-416A>C;NM_009586.2:c.1168-416A>C 168001159 112709241 NA07022_36_chr21_37038483 1.68e-01 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38116613A>C;NG_029519.1:g.49623A>C;NM_005069.3:c.1168-416A>C;NM_009586.2:c.1168-416A>C 283537713 112709241 GMI_AK_SNP_7858134 1.68e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116613A>C;NG_029519.1:g.49623A>C;NM_005069.3:c.1168-416A>C;NM_009586.2:c.1168-416A>C 466052735 112709241 20101123_snps_12219965_chr21_38116613 1.68e-01 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 MPI_MOLGEN 6493 NC_000021.8:g.38116613A>C;NG_029519.1:g.49623A>C;NM_005069.3:c.1168-416A>C;NM_009586.2:c.1168-416A>C 469266700 112709241 Chromosome21_37038483 1.68e-01 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116676G>A;NG_029519.1:g.49686G>A;NM_005069.3:c.1168-353G>A;NM_009586.2:c.1168-353G>A 466052736 184423736 20101123_snps_12219966_chr21_38116676 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6493 NC_000021.8:g.38116713_38116714insG;NG_029519.1:g.49723_49724insG;NM_005069.3:c.1168-316_1168-315insG;NM_009586.2:c.1168-316_1168-315insG 41477989 36172767 hCV33801721 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 CSHL-HAPMAP 6493 NC_000021.8:g.38116721T>G;NG_029519.1:g.49731T>G;NM_005069.3:c.1168-308T>G;NM_009586.2:c.1168-308T>G 19488617 12482727 CSHL-HuDD-200402.chr21.NT_011512.9_23777117 2004.02.21 2004.03.04 2004.02.28 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38116725G>T;NG_029519.1:g.49735G>T;NM_005069.3:c.1168-304G>T;NM_009586.2:c.1168-304G>T 19488127 12482640 CSHL-HuDD-200402.chr21.NT_011512.9_23777121 2004.02.21 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38116726_38116739delAAAGAAAGAAAAAC;NG_029519.1:g.49736_49749delAAAGAAAGAAAAAC;NM_005069.3:c.1168-303_1168-290delAAAGAAAGAAAAAC;NM_009586.2:c.1168-303_1168-290delAAAGAAAGAAAAAC 327986091 138051499 JPTCHB_chr21_37038595_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38116737A>G;NG_029519.1:g.49747A>G;NM_005069.3:c.1168-292A>G;NM_009586.2:c.1168-292A>G 13821243 9978719 chr21.NT_011512.9_23777133 2003.11.05 2003.11.22 2003.12.05 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38116737A>G;NG_029519.1:g.49747A>G;NM_005069.3:c.1168-292A>G;NM_009586.2:c.1168-292A>G 19487889 9978719 CSHL-HuDD-200402.chr21.NT_011512.9_23777133 2004.02.21 2004.03.04 2003.12.05 2011.09.09 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38116743G>C;NG_029519.1:g.49753G>C;NM_005069.3:c.1168-286G>C;NM_009586.2:c.1168-286G>C 13821518 9978974 chr21.NT_011512.9_23777139 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38116753G>A;NG_029519.1:g.49763G>A;NM_005069.3:c.1168-276G>A;NM_009586.2:c.1168-276G>A 13821523 9978979 chr21.NT_011512.9_23777149 2003.11.05 2003.11.22 2003.12.05 2011.09.09 137 CSHL-HAPMAP 6493 NC_000021.8:g.38116753G>A;NG_029519.1:g.49763G>A;NM_005069.3:c.1168-276G>A;NM_009586.2:c.1168-276G>A 19488131 9978979 CSHL-HuDD-200402.chr21.NT_011512.9_23777149 2004.02.21 2004.03.04 2003.12.05 2011.09.09 137 DEVINE_LAB 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 102291393 72405909 INDEL_GP36_2008a_1608843_0 4.75e-01 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 193633805 72405909 BUSHMAN-chr21-37038637-37038641 4.75e-01 2010.02.17 2010.02.17 2009.02.13 2012.11.28 137 GMI 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 289434423 72405909 GMI_AK_INDEL_1111903 4.75e-01 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 PJP 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 295067594 72405909 DIP_505298_chr21_37038646 4.75e-01 2011.01.23 2011.01.23 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 327986094 72405909 JPTCHB_chr21_37038637_indel 4.75e-01 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 328091412 72405909 CEU_chr21_37038637_indel 4.75e-01 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 328316708 72405909 YRI_chr21_37038637_indel 4.75e-01 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38116768_38116771delAGAA;NG_029519.1:g.49778_49781delAGAA;NM_005069.3:c.1168-261_1168-258delAGAA;NM_009586.2:c.1168-261_1168-258delAGAA 499804964 72405909 20110316_indels_chr21_38116767_38116770 4.75e-01 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 DEVINE_LAB 6493 NC_000021.8:g.38116771delA;NC_000021.8:g.38116771delAinsAAGA;NG_029519.1:g.49781delA;NG_029519.1:g.49781delAinsAAGA;NM_005069.3:c.1168-258delA;NM_005069.3:c.1168-258delAinsAAGA;NM_009586.2:c.1168-258delA;NM_009586.2:c.1168-258delAinsAAGA 102016915 72325229 INDEL_GP36_2008a_2246596_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 PJP 6493 NC_000021.8:g.38116771delA;NC_000021.8:g.38116771delAinsAAGA;NG_029519.1:g.49781delA;NG_029519.1:g.49781delAinsAAGA;NM_005069.3:c.1168-258delA;NM_005069.3:c.1168-258delAinsAAGA;NM_009586.2:c.1168-258delA;NM_009586.2:c.1168-258delAinsAAGA 295067595 72325229 DIP_505299_chr21_37038649 2011.01.23 2011.01.23 2009.02.13 2011.07.08 137 ABI 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 41452970 35829364 hCV33801720 2005.07.17 2005.07.17 2006.03.15 2012.05.16 137 HGSV 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 82416717 35829364 Cor19240_DIV_20070510.chr21_37038656-37038661_1 2007.12.02 2007.12.02 2006.03.15 2012.05.16 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 95751159 35829364 1104685581956 2008.03.23 2008.12.03 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 101802038 35829364 INDEL_GP36_2008a_1156697_0 2008.05.18 2008.05.18 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 101802042 35829364 INDEL_GP36_2008a_1156697_1 2008.05.18 2008.05.18 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 101802044 35829364 INDEL_GP36_2008a_1156697_2 2008.05.18 2008.05.18 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 101802046 35829364 INDEL_GP36_2008a_1156697_3 2008.05.18 2008.05.18 2006.03.15 2012.05.16 137 DEVINE_LAB 6493 NC_000021.8:g.38116787_38116790delAAGA;NC_000021.8:g.38116787_38116790delAAGAinsAA;NG_029519.1:g.49797_49800delAAGA;NG_029519.1:g.49797_49800delAAGAinsAA;NM_005069.3:c.1168-242_1168-239delAAGA;NM_005069.3:c.1168-242_1168-239delAAGAinsAA;NM_009586.2:c.1168-242_1168-239delAAGA;NM_009586.2:c.1168-242_1168-239delAAGAinsAA 101802049 35829364 INDEL_GP36_2008a_1156697_4 2008.05.18 2008.05.18 2006.03.15 2012.05.16 137 ABI 6493 NC_000021.8:g.38116791_38116792insAG;NG_029519.1:g.49801_49802insAG;NM_005069.3:c.1168-238_1168-237insAG;NM_009586.2:c.1168-238_1168-237insAG 41457208 35142549 hCV33801719 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38116987C>T;NG_029519.1:g.49997C>T;NM_005069.3:c.1168-42C>T;NM_009586.2:c.1168-42C>T 489203541 201071179 20110521_exome_275055_chr21_38116987 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117021C>T;NG_029519.1:g.50031C>T;NM_005069.3:c.1168-8C>T;NM_009586.2:c.1168-8C>T 237978139 117655224 pilot_1_CEU_7582768_chr21_37038891 3.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117021C>T;NG_029519.1:g.50031C>T;NM_005069.3:c.1168-8C>T;NM_009586.2:c.1168-8C>T 491184270 117655224 20110521_exome_692068_chr21_38117021 3.70e-03 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38117021C>T;NG_029519.1:g.50031C>T;NM_005069.3:c.1168-8C>T;NM_009586.2:c.1168-8C>T 491815757 117655224 SNV-chr21-37038891 3.70e-03 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117039C>T;NG_029519.1:g.50049C>T;NM_005069.3:c.1178C>T;NM_009586.2:c.1178C>T;NP_005060.1:p.Ser393Leu;NP_033664.2:p.Ser393Leu 342531788 151185181 ESP2500-chr21-38117039 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38117039C>T;NG_029519.1:g.50049C>T;NM_005069.3:c.1178C>T;NM_009586.2:c.1178C>T;NP_005060.1:p.Ser393Leu;NP_033664.2:p.Ser393Leu 491565620 151185181 nonsyn_281846_chr_21_38117039 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 2987713 2073416 IMS-JST009735 2.51e-01 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 3188482 2073416 SNP000574066 2.51e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 4015125 2073416 P00222563 2.51e-01 2001.09.26 2004.04.07 2001.06.15 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 14439514 2073416 chr21.NT_011512.9_23777436 2.51e-01 2003.11.07 2006.10.25 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 19488414 2073416 CSHL-HuDD-200402.chr21.NT_011512.9_23777436 2.51e-01 2004.02.21 2004.03.04 2001.06.15 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 21835528 2073416 WGSA-200403-chr21.chr21.NT_011512.9_23777436 2.51e-01 2004.03.20 2004.03.20 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 44269796 2073416 hCV2990398 2.51e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 APPLERA_GI 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 48404089 2073416 hCV2990398 2.51e-01 2005.11.30 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 65741198 2073416 Human1-rs2073416 2.51e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 69253517 2073416 PGP00075652 2.51e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 AFFY 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 74826718 2073416 SNP_M-582915 2.51e-01 2007.08.09 2007.08.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 74909389 2073416 ILMN_Human_1M_rs2073416 2.51e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 96168136 2073416 1103643115917 2.51e-01 2008.03.25 2008.03.25 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 103822108 2073416 BGI_rs2073416 2.51e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 117520822 2073416 NA18507_000036561_NCBI36.1_chr21_37038910 2.51e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 119415585 2073416 KHS1577832 2.51e-01 2009.02.04 2009.02.04 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 144087704 2073416 ENSSNP1974405 2.51e-01 2009.06.06 2009.10.17 2001.06.15 2012.11.28 137 SEATTLESEQ 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 159743273 2073416 SIM2-37038910 2.51e-01 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 160498553 2073416 HumanOmni1-Quad_v1-0_B_rs2073416-128_T_F_1513931390 2.51e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 168001171 2073416 NA07022_36_chr21_37038910 2.51e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 173099029 2073416 Human1M-Duov3_B_rs2073416-128_T_F_1513931390 2.51e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 204014015 2073416 BUSHMAN-chr21-37038909 2.51e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 228558800 2073416 pilot_1_YRI_10368483_chr21_37038910 2.51e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 237978140 2073416 pilot_1_CEU_7582769_chr21_37038910 2.51e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 244117331 2073416 pilot_1_CHB+JPT_6002408_chr21_37038910 2.51e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 255945991 2073416 SNP32871_21_37038910 2.51e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 283537714 2073416 GMI_AK_SNP_7858135 2.51e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 292708657 2073416 SNP_2215015_chr21_37038910 2.51e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 342531789 2073416 ESP2500-chr21-38117040 2.51e-01 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 410919056 2073416 Cardio-Metabo_Chip_11395247_A_rs2073416 2.51e-01 2011.06.07 2011.06.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 480412426 2073416 HumanOmni2.5-4v1_B_rs2073416-128_T_F_1772814643 2.51e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 480425848 2073416 HumanOmniExpress-12v1_C_rs2073416-131_T_F_1857107066 2.51e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 481208870 2073416 HumanOmni1-Quad_v1-0_C_rs2073416-131_T_F_1857107066 2.51e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 485003744 2073416 HumanOmni2.5-4v1_D_rs2073416-131_T_F_1857107066 2.51e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 491184271 2073416 20110521_exome_692069_chr21_38117040 2.51e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38117040G>A;NG_029519.1:g.50050G>A;NM_005069.3:c.1179G>A;NM_009586.2:c.1179G>A;NP_005060.1:p.Ser393=;NP_033664.2:p.Ser393= 491815758 2073416 SNV-chr21-37038910 2.51e-01 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117064C>T;NG_029519.1:g.50074C>T;NM_005069.3:c.1203C>T;NM_009586.2:c.1203C>T;NP_005060.1:p.Cys401=;NP_033664.2:p.Cys401= 342531790 145321008 ESP2500-chr21-38117064 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38117161C>T;NG_029519.1:g.50171C>T;NM_005069.3:c.1300C>T;NM_009586.2:c.1300C>T;NP_005060.1:p.Pro434Ser;NP_033664.2:p.Pro434Ser 342531791 137945799 ESP2500-chr21-38117161 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38117217C>T;NG_029519.1:g.50227C>T;NM_005069.3:c.1356C>T;NM_009586.2:c.1356C>T;NP_005060.1:p.His452=;NP_033664.2:p.His452= 342531792 140786374 ESP2500-chr21-38117217 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CORNELL 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 86266605 61750768 hCV25984439 1.88e-02 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 228558801 61750768 pilot_1_YRI_10368484_chr21_37039117 1.88e-02 2010.04.22 2010.04.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 342531793 61750768 ESP2500-chr21-38117247 1.88e-02 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 480270358 61750768 HumanOmni2.5-4v1_D_kgp13202659-0_T_F_1825997015 1.88e-02 2012.01.31 2012.01.31 2008.03.23 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 484267524 61750768 HumanOmni2.5-4v1_B_SNP21-37039117-0_T_F_1624820852 1.88e-02 2012.02.03 2012.02.03 2008.03.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117247G>A;NG_029519.1:g.50257G>A;NM_005069.3:c.1386G>A;NM_009586.2:c.1386G>A;NP_005060.1:p.Pro462=;NP_033664.2:p.Pro462= 491184272 61750768 20110521_exome_692070_chr21_38117247 1.88e-02 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117257G>A;NG_029519.1:g.50267G>A;NM_005069.3:c.1396G>A;NM_009586.2:c.1396G>A;NP_005060.1:p.Gly466Arg;NP_033664.2:p.Gly466Arg 489203543 200359415 20110521_exome_275056_chr21_38117257 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 2987990 2073601 IMS-JST000029 1.73e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 3182566 2073601 SNP000568150 1.73e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 14439722 2073601 chr21.NT_011512.9_23777704 1.73e-01 2003.11.07 2006.10.25 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 16911272 2073601 CSHL-HuAA-200402.chr21.NT_011512.9_23777704 1.73e-01 2004.02.18 2004.03.04 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 44266052 2073601 hCV2990399 1.73e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 APPLERA_GI 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 48404090 2073601 hCV2990399 1.73e-01 2005.11.30 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 65730925 2073601 Human1-rs2073601 1.73e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 66542503 2073601 HumanHap300v1.1_rs2073601 1.73e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 67222511 2073601 HumanHap550v1.1_rs2073601 1.73e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 67616966 2073601 HumanHap650Yv1.0_rs2073601 1.73e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 69253518 2073601 PGP04232079 1.73e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 70700802 2073601 HumanHap550v3.0__rs2073601 1.73e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 71266861 2073601 HumanHap650Yv3.0_rs2073601 1.73e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 AFFY 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 74806777 2073601 SNP_M-176705 1.73e-01 2007.08.09 2007.08.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 75550637 2073601 ILMN_Human_1M_rs2073601 1.73e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 79112658 2073601 HumanHap300v2.0_rs2073601 1.73e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 83965940 2073601 KHS586602 1.73e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 91834708 2073601 JWB-1494585 1.73e-01 2008.03.02 2008.03.02 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 96168137 2073601 1103643115918 1.73e-01 2008.03.25 2008.03.25 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 120036305 2073601 GS0007123-OPA_Ober-rs2073601 1.73e-01 2009.02.24 2009.02.24 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 121909701 2073601 HumanCNV370v1_C_rs2073601 1.73e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 138314899 2073601 ENSSNP6609484 1.73e-01 2009.05.17 2009.05.17 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 143162125 2073601 ENSSNP1974406 1.73e-01 2009.06.06 2010.03.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 153845621 2073601 Human610_Quadv1_B_rs2073601-128_T_F_1501707235 1.73e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 159356400 2073601 Human660W-Quad_v1_A_rs2073601-128_T_F_1501707235 1.73e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 SEATTLESEQ 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 159743274 2073601 SIM2-37039178 1.73e-01 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 160498615 2073601 HumanOmni1-Quad_v1-0_B_rs2073601-128_T_F_1501707235 1.73e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 171001058 2073601 HumanCNV370-Quadv3_C_rs2073601-128_T_F_1501707235 1.73e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 173099333 2073601 Human1M-Duov3_B_rs2073601-128_T_F_1501707235 1.73e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 204014016 2073601 BUSHMAN-chr21-37039177 1.73e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 237978141 2073601 pilot_1_CEU_7582770_chr21_37039178 1.73e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 PJP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 292708658 2073601 SNP_2215016_chr21_37039178 1.73e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 342531794 2073601 ESP2500-chr21-38117308 1.73e-01 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 410919061 2073601 Cardio-Metabo_Chip_11395247_A_rs2073601 1.73e-01 2011.06.07 2011.06.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 480412635 2073601 HumanOmni2.5-4v1_B_rs2073601-128_T_F_1773548205 1.73e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 480426057 2073601 HumanOmniExpress-12v1_C_rs2073601-131_T_F_1857107123 1.73e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 481209120 2073601 HumanOmni1-Quad_v1-0_C_rs2073601-131_T_F_1865238142 1.73e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 485003843 2073601 HumanOmni2.5-4v1_D_rs2073601-131_T_F_1857107123 1.73e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 491184273 2073601 20110521_exome_692071_chr21_38117308 1.73e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 491565621 2073601 nonsyn_281847_chr_21_38117308 1.73e-01 2012.03.06 2012.03.06 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38117308C>A;NG_029519.1:g.50318C>A;NM_005069.3:c.1447C>A;NM_009586.2:c.1447C>A;NP_005060.1:p.Leu483Met;NP_033664.2:p.Leu483Met 491815759 2073601 SNV-chr21-37039178 1.73e-01 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117319C>T;NG_029519.1:g.50329C>T;NM_005069.3:c.1458C>T;NM_009586.2:c.1458C>T;NP_005060.1:p.Ser486=;NP_033664.2:p.Ser486= 489203545 201951528 20110521_exome_275057_chr21_38117319 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117320G>A;NG_029519.1:g.50330G>A;NM_005069.3:c.1459G>A;NM_009586.2:c.1459G>A;NP_005060.1:p.Gly487Ser;NP_033664.2:p.Gly487Ser 489203547 201708628 20110521_exome_275058_chr21_38117320 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117367G>A;NG_029519.1:g.50377G>A;NM_005069.3:c.1506G>A;NM_009586.2:c.1506G>A;NP_005060.1:p.Ser502=;NP_033664.2:p.Ser502= 342531795 149650483 ESP2500-chr21-38117367 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38117367G>A;NG_029519.1:g.50377G>A;NM_005069.3:c.1506G>A;NM_009586.2:c.1506G>A;NP_005060.1:p.Ser502=;NP_033664.2:p.Ser502= 491815760 149650483 SNV-chr21-37039237 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117396C>T;NG_029519.1:g.50406C>T;NM_005069.3:c.1535C>T;NM_009586.2:c.1535C>T;NP_005060.1:p.Pro512Leu;NP_033664.2:p.Pro512Leu 342531796 144394618 ESP2500-chr21-38117396 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6493 NC_000021.8:g.38117397G>A;NG_029519.1:g.50407G>A;NM_005069.3:c.1536G>A;NM_009586.2:c.1536G>A;NP_005060.1:p.Pro512=;NP_033664.2:p.Pro512= 342531797 148338000 ESP2500-chr21-38117397 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117397G>A;NG_029519.1:g.50407G>A;NM_005069.3:c.1536G>A;NM_009586.2:c.1536G>A;NP_005060.1:p.Pro512=;NP_033664.2:p.Pro512= 466052737 148338000 20101123_snps_12219967_chr21_38117397 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117397G>A;NG_029519.1:g.50407G>A;NM_005069.3:c.1536G>A;NM_009586.2:c.1536G>A;NP_005060.1:p.Pro512=;NP_033664.2:p.Pro512= 491184274 148338000 20110521_exome_692072_chr21_38117397 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6493 NC_000021.8:g.38117414A>G;NG_029519.1:g.50424A>G;NM_005069.3:c.1553A>G;NM_009586.2:c.1553A>G;NP_005060.1:p.His518Arg;NP_033664.2:p.His518Arg 491815761 201246885 SNV-chr21-37039284 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117419C>T;NG_029519.1:g.50429C>T;NM_005069.3:c.1558C>T;NM_009586.2:c.1558C>T;NP_005060.1:p.Leu520=;NP_033664.2:p.Leu520= 489203548 199788000 20110521_exome_275059_chr21_38117419 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6493 NC_000021.8:g.38117434G>A;NG_029519.1:g.50444G>A;NM_005069.3:c.1573G>A;NM_009586.2:c.1573G>A;NP_005060.1:p.Glu525Lys;NP_033664.2:p.Glu525Lys 342531798 141533294 ESP2500-chr21-38117434 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38117437G>A;NG_029519.1:g.50447G>A;NM_005069.3:c.1576G>A;NM_009586.2:c.1576G>A;NP_005060.1:p.Ala526Thr;NP_033664.2:p.Gly526Ser 489203550 201126287 20110521_exome_275060_chr21_38117437 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38117474T>A;NG_029519.1:g.50484T>A;NM_005069.3:c.1576+37T>A;NM_009586.2:c.1613T>A;NP_033664.2:p.Leu538Gln 491565622 200755165 nonsyn_281848_chr_21_38117474 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38117482G>A;NG_029519.1:g.50492G>A;NM_005069.3:c.1576+45G>A;NM_009586.2:c.1621G>A;NP_033664.2:p.Ala541Thr 489203552 200609904 20110521_exome_275061_chr21_38117482 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6493 NC_000021.8:g.38117485G>A;NG_029519.1:g.50495G>A;NM_005069.3:c.1576+48G>A;NM_009586.2:c.1624G>A;NP_033664.2:p.Gly542Arg 491565623 201454422 nonsyn_281849_chr_21_38117485 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6493 NC_000021.8:g.38117492G>A;NG_029519.1:g.50502G>A;NM_005069.3:c.1576+55G>A;NM_009586.2:c.1631G>A;NP_033664.2:p.Arg544Gln 466052738 192771022 20101123_snps_12219968_chr21_38117492 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 2987991 2073602 IMS-JST000030 2.56e-01 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 3182567 2073602 SNP000568151 2.56e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 19488719 2073602 CSHL-HuDD-200402.chr21.NT_011512.9_23777901 2.56e-01 2004.02.21 2006.10.26 2001.06.15 2012.11.28 137 ABI 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 44285751 2073602 hCV2990400 2.56e-01 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 65758329 2073602 Human1-rs2073602 2.56e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 96168138 2073602 1103643115919 2.56e-01 2008.03.25 2008.03.25 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 103822110 2073602 BGI_rs2073602 2.56e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 117520824 2073602 NA18507_000036562_NCBI36.1_chr21_37039375 2.56e-01 2009.01.19 2009.01.19 2001.06.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 135607430 2073602 ENSSNP1974407 2.56e-01 2009.05.14 2010.03.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 160498616 2073602 HumanOmni1-Quad_v1-0_B_rs2073602-128_T_R_1562490329 2.56e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 168001183 2073602 NA07022_36_chr21_37039375 2.56e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 204014017 2073602 BUSHMAN-chr21-37039374 2.56e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 208797237 2073602 BCM_CMT_1011-3252670 2.56e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 228558802 2073602 pilot_1_YRI_10368485_chr21_37039375 2.56e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 237978142 2073602 pilot_1_CEU_7582771_chr21_37039375 2.56e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 244117332 2073602 pilot_1_CHB+JPT_6002409_chr21_37039375 2.56e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 283537715 2073602 GMI_AK_SNP_7858136 2.56e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 481209124 2073602 HumanOmni1-Quad_v1-0_C_rs2073602-131_T_R_1863413459 2.56e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 483184596 2073602 HumanOmni2.5-4v1_D_kgp3508594-0_B_F_1819931455 2.56e-01 2012.02.02 2012.02.02 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 484267526 2073602 HumanOmni2.5-4v1_B_SNP21-37039375-0_B_F_1618813550 2.56e-01 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117505C>T;NG_029519.1:g.50515C>T;NM_005069.3:c.1576+68C>T;NM_009586.2:c.1644C>T;NP_033664.2:p.Gly548= 491184275 2073602 20110521_exome_692073_chr21_38117505 2.56e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117564C>T;NG_029519.1:g.50574C>T;NM_005069.3:c.1576+127C>T;NM_009586.2:c.1703C>T;NP_033664.2:p.Ala568Val 228558803 76502794 pilot_1_YRI_10368486_chr21_37039434 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 CSHL-HAPMAP 6493 NC_000021.8:g.38117582T>C;NG_029519.1:g.50592T>C;NM_005069.3:c.1576+145T>C;NM_009586.2:c.*8T>C 17709151 11910583 CSHL-HuCC-200402.chr21.NT_011512.9_23777978 1.05e-02 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 ENSEMBL 6493 NC_000021.8:g.38117582T>C;NG_029519.1:g.50592T>C;NM_005069.3:c.1576+145T>C;NM_009586.2:c.*8T>C 161360987 11910583 ENSSNP1974408 1.05e-02 2009.09.24 2010.03.07 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38117582T>C;NG_029519.1:g.50592T>C;NM_005069.3:c.1576+145T>C;NM_009586.2:c.*8T>C 168001195 11910583 NA07022_36_chr21_37039452 1.05e-02 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38117582T>C;NG_029519.1:g.50592T>C;NM_005069.3:c.1576+145T>C;NM_009586.2:c.*8T>C 237978143 11910583 pilot_1_CEU_7582772_chr21_37039452 1.05e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 2987992 2073603 IMS-JST000031 5.08e-02 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 3182568 2073603 SNP000568152 5.08e-02 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 24219671 2073603 afd0075654 5.08e-02 2004.08.21 2004.09.13 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 160498617 2073603 HumanOmni1-Quad_v1-0_B_rs2073603-128_T_R_1562490661 5.08e-02 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 244117333 2073603 pilot_1_CHB+JPT_6002410_chr21_37039612 5.08e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 283537716 2073603 GMI_AK_SNP_7858137 5.08e-02 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 480245633 2073603 HumanOmni2.5-4v1_D_kgp13100278-0_T_R_1825792300 5.08e-02 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 481209128 2073603 HumanOmni1-Quad_v1-0_C_rs2073603-131_T_R_1863413462 5.08e-02 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38117742T>G;NG_029519.1:g.50752T>G;NM_005069.3:c.1576+305T>G;NM_009586.2:c.*168T>G 484267528 2073603 HumanOmni2.5-4v1_B_SNP21-37039612-0_T_R_1635163094 5.08e-02 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38117800C>T;NG_029519.1:g.50810C>T;NM_005069.3:c.1576+363C>T;NM_009586.2:c.*226C>T 466052739 184134595 20101123_snps_12219969_chr21_38117800 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38117875T>C;NG_029519.1:g.50885T>C;NM_005069.3:c.1576+438T>C;NM_009586.2:c.*301T>C 466052740 189262306 20101123_snps_12219970_chr21_38117875 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38117888G>A;NG_029519.1:g.50898G>A;NM_005069.3:c.1576+451G>A;NM_009586.2:c.*314G>A 341012705 137919419 20100804_snps_12656246_chr21_38117888 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38117927C>A;NG_029519.1:g.50937C>A;NM_005069.3:c.1576+490C>A;NM_009586.2:c.*353C>A 341012706 143461092 20100804_snps_12656247_chr21_38117927 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38117969C>T;NG_029519.1:g.50979C>T;NM_005069.3:c.1576+532C>T;NM_009586.2:c.*395C>T 341012707 143871707 20100804_snps_12656248_chr21_38117969 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38118030A>C;NG_029519.1:g.51040A>C;NM_005069.3:c.1576+593A>C;NM_009586.2:c.*456A>C 168001208 113892921 NA07022_36_chr21_37039900 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118038G>T;NG_029519.1:g.51048G>T;NM_005069.3:c.1576+601G>T;NM_009586.2:c.*464G>T 466052741 181610667 20101123_snps_12219971_chr21_38118038 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38118040C>T;NG_029519.1:g.51050C>T;NM_005069.3:c.1576+603C>T;NM_009586.2:c.*466C>T 466052742 184380966 20101123_snps_12219972_chr21_38118040 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 13825384 9982519 chr21.NT_011512.9_23778485 1.69e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 21821263 9982519 WGSA-200403-chr21.chr21.NT_011512.9_23778485 1.69e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 44267879 9982519 hCV2990401 1.69e-01 2005.07.18 2005.07.18 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 91834711 9982519 JWB-1494586 1.69e-01 2008.03.02 2008.03.02 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 96168139 9982519 1103643115921 1.69e-01 2008.03.25 2008.03.25 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 135607426 9982519 ENSSNP1974409 1.69e-01 2009.05.14 2009.10.14 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 138314900 9982519 ENSSNP6188955 1.69e-01 2009.05.17 2009.05.17 2003.12.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 204014018 9982519 BUSHMAN-chr21-37039958 1.69e-01 2010.03.10 2010.03.10 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 228558804 9982519 pilot_1_YRI_10368487_chr21_37039959 1.69e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 237978144 9982519 pilot_1_CEU_7582773_chr21_37039959 1.69e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38118089G>C;NG_029519.1:g.51099G>C;NM_005069.3:c.1576+652G>C;NM_009586.2:c.*515G>C 292708659 9982519 SNP_2215017_chr21_37039959 1.69e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118114C>T;NG_029519.1:g.51124C>T;NM_005069.3:c.1576+677C>T;NM_009586.2:c.*540C>T 466052743 190449776 20101123_snps_12219973_chr21_38118114 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38118250C>T;NG_029519.1:g.51260C>T;NM_005069.3:c.1576+813C>T;NM_009586.2:c.*676C>T 228558805 116836020 pilot_1_YRI_10368488_chr21_37040120 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118250C>T;NG_029519.1:g.51260C>T;NM_005069.3:c.1576+813C>T;NM_009586.2:c.*676C>T 480246837 116836020 HumanOmni2.5-4v1_D_kgp13105225-0_B_F_1825802191 3.70e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118250C>T;NG_029519.1:g.51260C>T;NM_005069.3:c.1576+813C>T;NM_009586.2:c.*676C>T 484267530 116836020 HumanOmni2.5-4v1_B_SNP21-37040120-0_B_F_1624769025 3.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118393G>A;NG_029519.1:g.51403G>A;NM_005069.3:c.1576+956G>A;NM_009586.2:c.*819G>A 466052744 182283498 20101123_snps_12219974_chr21_38118393 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38118541G>A;NG_029519.1:g.51551G>A;NM_005069.3:c.1576+1104G>A;NM_009586.2:c.*967G>A 341012708 148645539 20100804_snps_12656249_chr21_38118541 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118592G>A;NG_029519.1:g.51602G>A;NM_005069.3:c.1576+1155G>A;NM_009586.2:c.*1018G>A 341012709 142108018 20100804_snps_12656250_chr21_38118592 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38118613_38118614insA;NG_029519.1:g.51623_51624insA;NM_005069.3:c.1576+1176_1576+1177insA;NM_009586.2:c.*1039_*1040insA 96178031 71326702 1103643115923 2008.03.25 2008.03.25 2009.02.13 2011.10.06 137 ENSEMBL 6493 NC_000021.8:g.38118613C>A;NG_029519.1:g.51623C>A;NM_005069.3:c.1576+1176C>A;NM_009586.2:c.*1039C>A 138314901 76751618 ENSSNP11885136 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 BL 6493 NC_000021.8:g.38118613_38118614insA;NG_029519.1:g.51623_51624insA;NM_005069.3:c.1576+1176_1576+1177insA;NM_009586.2:c.*1039_*1040insA 256199764 71326702 SNP2565_21_37040483 2010.08.20 2010.08.20 2009.02.13 2011.10.06 137 DEVINE_LAB 6493 NC_000021.8:g.38118614_38118615insA;NG_029519.1:g.51624_51625insA;NM_005069.3:c.1576+1177_1576+1178insA;NM_009586.2:c.*1040_*1041insA 100108926 71873189 INDEL_GP36_2008a_1630792_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 SSAHASNP 6493 NC_000021.8:g.38118626G>A;NG_029519.1:g.51636G>A;NM_005069.3:c.1576+1189G>A;NM_009586.2:c.*1052G>A 21804304 13046003 WGSA-200403-chr21.chr21.NT_011512.9_23779022 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 TSC-CSHL 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 2917407 2002799 TSC0210548 2.68e-01 2001.01.02 2003.10.10 2001.01.12 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 6049821 2002799 NT_011512.6_23696111 2.68e-01 2003.01.12 2003.10.10 2001.01.12 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 21837178 2002799 WGSA-200403-chr21.chr21.NT_011512.9_23779103 2.68e-01 2004.03.20 2004.03.20 2001.01.12 2012.11.28 137 ABI 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 44271633 2002799 hCV2990402 2.68e-01 2005.07.18 2006.11.03 2001.01.12 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 96168140 2002799 1103643115924 2.68e-01 2008.03.25 2008.03.25 2001.01.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 103822113 2002799 BGI_rs2002799 2.68e-01 2008.06.07 2009.06.18 2001.01.12 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 117520826 2002799 NA18507_000036563_NCBI36.1_chr21_37040577 2.68e-01 2009.01.19 2009.01.19 2001.01.12 2012.11.28 137 CHURCH_CG54K 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 120034056 2002799 chr21.37040577_26 2.68e-01 2009.02.24 2010.03.07 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 168001221 2002799 NA07022_36_chr21_37040577 2.68e-01 2009.09.30 2009.09.30 2001.01.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 204014019 2002799 BUSHMAN-chr21-37040576 2.68e-01 2010.03.10 2010.03.10 2001.01.12 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 208782553 2002799 BCM_CMT_1011-3237986 2.68e-01 2010.03.20 2010.03.20 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 212084241 2002799 YRI.trio.3.2010_1500844_chr21_37040577 2.68e-01 2010.03.31 2010.03.31 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 228558806 2002799 pilot_1_YRI_10368489_chr21_37040577 2.68e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 237978145 2002799 pilot_1_CEU_7582774_chr21_37040577 2.68e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 244117335 2002799 pilot_1_CHB+JPT_6002412_chr21_37040577 2.68e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 255946000 2002799 SNP32872_21_37040577 2.68e-01 2010.08.20 2010.08.20 2001.01.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38118707C>T;NG_029519.1:g.51717C>T;NM_005069.3:c.1577-1259C>T;NM_009586.2:c.*1133C>T 283537717 2002799 GMI_AK_SNP_7858138 2.68e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118708G>A;NG_029519.1:g.51718G>A;NM_005069.3:c.1577-1258G>A;NM_009586.2:c.*1134G>A 466052745 186075672 20101123_snps_12219975_chr21_38118708 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6493 NC_000021.8:g.38118714C>G;NG_029519.1:g.51724C>G;NM_005069.3:c.1577-1252C>G;NM_009586.2:c.*1140C>G 204014020 112539502 BUSHMAN-chr21-37040583 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38118815A>C;NG_029519.1:g.51825A>C;NM_005069.3:c.1577-1151A>C 341012710 150671809 20100804_snps_12656251_chr21_38118815 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118898G>A;NG_029519.1:g.51908G>A;NM_005069.3:c.1577-1068G>A 341012711 140116046 20100804_snps_12656252_chr21_38118898 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118928A>G;NG_029519.1:g.51938A>G;NM_005069.3:c.1577-1038A>G 341012712 143906258 20100804_snps_12656253_chr21_38118928 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118933G>C;NG_029519.1:g.51943G>C;NM_005069.3:c.1577-1033G>C 341012713 146889822 20100804_snps_12656254_chr21_38118933 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118934G>C;NG_029519.1:g.51944G>C;NM_005069.3:c.1577-1032G>C 228558807 116529406 pilot_1_YRI_10368490_chr21_37040804 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 TSC-CSHL 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 1302818 877686 TSC0210547 4.72e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 3191114 877686 IMS-JST017025 4.72e-01 2001.08.07 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 6001117 877686 NT_011512.6_23696344 4.72e-01 2003.01.12 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 14430231 877686 chr21.NT_011512.9_23779336 4.72e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 16905348 877686 CSHL-HuAA-200402.chr21.NT_011512.9_23779336 4.72e-01 2004.02.18 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 21804648 877686 WGSA-200403-chr21.chr21.NT_011512.9_23779336 4.72e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 44249363 877686 hCV9527129 4.72e-01 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 75169631 877686 ILMN_Human_1M_rs877686 4.72e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 77199687 877686 Cor12156_SNV_20070510.chr21_37040810 4.72e-01 2007.10.09 2007.10.11 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 91834715 877686 JWB-1494587 4.72e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 96147492 877686 1103643115926 4.72e-01 2008.03.25 2008.03.25 2000.10.05 2012.11.28 137 BGI 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 103822115 877686 BGI_rs877686 4.72e-01 2008.06.07 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 113877247 877686 NA19240_2008_12_16_3401882_chr21_37040810 4.72e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 117520828 877686 NA18507_000036564_NCBI36.1_chr21_37040810 4.72e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 119371439 877686 KHS1533686 4.72e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 135607425 877686 ENSSNP1974410 4.72e-01 2009.05.14 2009.10.14 2000.10.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 138314902 877686 ENSSNP11885138 4.72e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 160961344 877686 HumanOmni1-Quad_v1-0_B_rs877686-128_T_R_1514156738 4.72e-01 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 168001232 877686 NA07022_36_chr21_37040810 4.72e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 169456750 877686 NA19240_36_chr21_37040810 4.72e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 174761528 877686 Human1M-Duov3_B_rs877686-128_T_R_1514156738 4.72e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 204014021 877686 BUSHMAN-chr21-37040809 4.72e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 208805948 877686 BCM_CMT_1011-3261383 4.72e-01 2010.03.20 2010.03.20 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 228558808 877686 pilot_1_YRI_10368491_chr21_37040810 4.72e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 237978146 877686 pilot_1_CEU_7582775_chr21_37040810 4.72e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 244117336 877686 pilot_1_CHB+JPT_6002413_chr21_37040810 4.72e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 255946006 877686 SNP32873_21_37040810 4.72e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 283537718 877686 GMI_AK_SNP_7858139 4.72e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 292708660 877686 SNP_2215018_chr21_37040810 4.72e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 481820277 877686 HumanOmni2.5-4v1_B_rs877686-128_T_R_1776840037 4.72e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 481852802 877686 HumanOmniExpress-12v1_C_rs877686-131_T_R_1857541373 4.72e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 482812800 877686 HumanOmni1-Quad_v1-0_C_rs877686-131_T_R_1865242163 4.72e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38118940A>C;NG_029519.1:g.51950A>C;NM_005069.3:c.1577-1026A>C 485704731 877686 HumanOmni2.5-4v1_D_rs877686-131_T_R_1857541373 4.72e-01 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38118941C>A;NG_029519.1:g.51951C>A;NM_005069.3:c.1577-1025C>A 341012714 140714505 20100804_snps_12656255_chr21_38118941 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38118966C>T;NG_029519.1:g.51976C>T;NM_005069.3:c.1577-1000C>T 341012715 149990168 20100804_snps_12656256_chr21_38118966 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6493 NC_000021.8:g.38119328_38119331delAAAC;NG_029519.1:g.52338_52341delAAAC;NM_005069.3:c.1577-638_1577-635delAAAC 289434424 144536989 GMI_AK_INDEL_1111904 6.73e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119328_38119331delAAAC;NG_029519.1:g.52338_52341delAAAC;NM_005069.3:c.1577-638_1577-635delAAAC 327986098 144536989 JPTCHB_chr21_37041197_indel 6.73e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119328_38119331delAAAC;NG_029519.1:g.52338_52341delAAAC;NM_005069.3:c.1577-638_1577-635delAAAC 328316709 144536989 YRI_chr21_37041197_indel 6.73e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119328_38119331delAAAC;NG_029519.1:g.52338_52341delAAAC;NM_005069.3:c.1577-638_1577-635delAAAC 499804968 144536989 20110316_indels_chr21_38119327_38119330 6.73e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119357A>C;NG_029519.1:g.52367A>C;NM_005069.3:c.1577-609A>C 466052746 190976673 20101123_snps_12219976_chr21_38119357 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 96178032 71328503 1103643115925 2.67e-01 2008.03.25 2008.03.25 2009.02.13 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 193633806 71328503 BUSHMAN-chr21-37041267-37041267 2.67e-01 2010.02.17 2010.02.17 2009.02.13 2012.11.28 137 BL 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 256199771 71328503 SNP2566_21_37041267 2.67e-01 2010.08.20 2010.08.20 2009.02.13 2012.11.28 137 GMI 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 289434425 71328503 GMI_AK_INDEL_1111905 2.67e-01 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 327986100 71328503 JPTCHB_chr21_37041267_indel 2.67e-01 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 328091414 71328503 CEU_chr21_37041267_indel 2.67e-01 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 328316710 71328503 YRI_chr21_37041267_indel 2.67e-01 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38119397_38119398insG;NG_029519.1:g.52407_52408insG;NM_005069.3:c.1577-569_1577-568insG 499804971 71328503 20110316_indels_chr21_38119397_38119398 2.67e-01 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 ABI 6493 NC_000021.8:g.38119398_38119399insG;NG_029519.1:g.52408_52409insG;NM_005069.3:c.1577-568_1577-567insG 41491879 34199997 hCV33801717 2005.07.17 2005.07.17 2006.03.13 2011.09.17 137 DEVINE_LAB 6493 NC_000021.8:g.38119398_38119399insG;NG_029519.1:g.52408_52409insG;NM_005069.3:c.1577-568_1577-567insG 100262937 34199997 INDEL_GP36_2008a_1244828_0 2008.05.16 2008.05.16 2006.03.13 2011.09.17 137 DEVINE_LAB 6493 NC_000021.8:g.38119398_38119399insG;NG_029519.1:g.52408_52409insG;NM_005069.3:c.1577-568_1577-567insG 100262941 34199997 INDEL_GP36_2008a_1244828_1 2008.05.16 2008.05.16 2006.03.13 2011.09.17 137 DEVINE_LAB 6493 NC_000021.8:g.38119398_38119399insG;NG_029519.1:g.52408_52409insG;NM_005069.3:c.1577-568_1577-567insG 100262945 34199997 INDEL_GP36_2008a_1244828_2 2008.05.16 2008.05.16 2006.03.13 2011.09.17 137 PJP 6493 NC_000021.8:g.38119398_38119399insG;NG_029519.1:g.52408_52409insG;NM_005069.3:c.1577-568_1577-567insG 295067596 34199997 DIP_505300_chr21_37041268 2011.01.23 2011.01.23 2006.03.13 2011.09.17 137 1000GENOMES 6493 NC_000021.8:g.38119474G>A;NG_029519.1:g.52484G>A;NM_005069.3:c.1577-492G>A 466052747 181330154 20101123_snps_12219977_chr21_38119474 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38119531G>A;NG_029519.1:g.52541G>A;NM_005069.3:c.1577-435G>A 341012716 145177863 20100804_snps_12656257_chr21_38119531 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38119547C>T;NG_029519.1:g.52557C>T;NM_005069.3:c.1577-419C>T 237978147 117387036 pilot_1_CEU_7582776_chr21_37041417 4.10e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38119643C>A;NG_029519.1:g.52653C>A;NM_005069.3:c.1577-323C>A 138314903 74514876 ENSSNP11885139 variation has been flagged as failed by submitter 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 ENSEMBL 6493 NC_000021.8:g.38119645A>C;NG_029519.1:g.52655A>C;NM_005069.3:c.1577-321A>C 138314904 79076927 ENSSNP11885140 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38119691C>G;NG_029519.1:g.52701C>G;NM_005069.3:c.1577-275C>G 244117337 117350962 pilot_1_CHB+JPT_6002414_chr21_37041561 7.30e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38119821T>C;NG_029519.1:g.52831T>C;NM_005069.3:c.1577-145T>C 466052748 185475363 20101123_snps_12219978_chr21_38119821 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38120082G>T;NG_029519.1:g.53092G>T;NM_005069.3:c.1693G>T;NP_005060.1:p.Ala565Ser 466052749 189938535 20101123_snps_12219979_chr21_38120082 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38120126G>T;NG_029519.1:g.53136G>T;NM_005069.3:c.1737G>T;NP_005060.1:p.Glu579Asp 208813130 112352360 BCM_CMT_1011-3268565 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38120235G>C;NG_029519.1:g.53245G>C;NM_005069.3:c.1846G>C;NP_005060.1:p.Ala616Pro 208814231 111672468 BCM_CMT_1011-3269666 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 13826521 9983571 chr21.NT_011512.9_23780945 1.84e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 77172854 9983571 Cor12156_SNV_20070510.chr21_37042419 1.84e-01 2007.10.09 2007.10.11 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 91834717 9983571 JWB-1494588 1.84e-01 2008.03.02 2008.03.02 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 96147493 9983571 1103643115928 1.84e-01 2008.03.25 2008.03.25 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 138314905 9983571 ENSSNP5838038 1.84e-01 2009.05.17 2009.05.17 2003.12.05 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 144296711 9983571 ENSSNP4554150 1.84e-01 2009.06.06 2009.10.20 2003.12.05 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 237978148 9983571 pilot_1_CEU_7582777_chr21_37042419 1.84e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 PJP 6493 NC_000021.8:g.38120549C>G;NG_029519.1:g.53559C>G;NM_005069.3:c.*156C>G 292708661 9983571 SNP_2215019_chr21_37042419 1.84e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 HGSV 6493 NC_000021.8:g.38120606C>A;NG_029519.1:g.53616C>A;NM_005069.3:c.*213C>A 77526453 56101012 Cor12156_SNV_20070510.chr21_37042476 2007.10.13 2007.10.13 2007.12.07 2011.07.08 137 ILLUMINA-UK 6493 NC_000021.8:g.38120642G>A;NG_029519.1:g.53652G>A;NM_005069.3:c.*249G>A 117520830 73902719 NA18507_000036565_NCBI36.1_chr21_37042512 1.05e-02 2009.01.19 2009.01.19 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120642G>A;NG_029519.1:g.53652G>A;NM_005069.3:c.*249G>A 228558810 73902719 pilot_1_YRI_10368493_chr21_37042512 1.05e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120642G>A;NG_029519.1:g.53652G>A;NM_005069.3:c.*249G>A 480253163 73902719 HumanOmni2.5-4v1_D_kgp13131722-0_B_R_1825855165 1.05e-02 2012.01.31 2012.01.31 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120642G>A;NG_029519.1:g.53652G>A;NM_005069.3:c.*249G>A 484267532 73902719 HumanOmni2.5-4v1_B_SNP21-37042512-0_B_R_1630121064 1.05e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120649G>C;NG_029519.1:g.53659G>C;NM_005069.3:c.*256G>C 466052750 182928558 20101123_snps_12219980_chr21_38120649 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 GMI 6493 NC_000021.8:g.38120649G>C;NG_029519.1:g.53659G>C;NM_005069.3:c.*256G>C 475855882 182928558 GMI_AK_SNP_8524380 5.00e-04 2011.11.24 2011.11.24 2011.09.17 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120697A>G;NG_029519.1:g.53707A>G;NM_005069.3:c.*304A>G 341012717 149168996 20100804_snps_12656258_chr21_38120697 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 2987714 2073417 IMS-JST009736 2.63e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 3188483 2073417 SNP000574067 2.63e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 14431697 2073417 chr21.NT_011512.9_23781114 2.63e-01 2003.11.07 2004.04.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 66675612 2073417 HumanHap300v1.1_rs2073417 2.63e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 67222471 2073417 HumanHap550v1.1_rs2073417 2.63e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 67616926 2073417 HumanHap650Yv1.0_rs2073417 2.63e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 69253519 2073417 PGP04196402 2.63e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 70700761 2073417 HumanHap550v3.0__rs2073417 2.63e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 71266820 2073417 HumanHap650Yv3.0_rs2073417 2.63e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 75573804 2073417 ILMN_Human_1M_rs2073417 2.63e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 79112628 2073417 HumanHap300v2.0_rs2073417 2.63e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 83965819 2073417 KHS586566 2.63e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BGI 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 103822117 2073417 BGI_rs2073417 2.63e-01 2008.06.07 2009.06.18 2001.06.15 2012.11.28 137 CHURCH_CG54K 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 120034057 2073417 chr21.37042584_30 2.63e-01 2009.02.24 2010.03.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 121909529 2073417 HumanCNV370v1_C_rs2073417 2.63e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 153845445 2073417 Human610_Quadv1_B_rs2073417-128_B_R_1501707008 2.63e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 159356355 2073417 Human660W-Quad_v1_A_rs2073417-128_B_R_1501707008 2.63e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 160498554 2073417 HumanOmni1-Quad_v1-0_B_rs2073417-128_B_R_1501707008 2.63e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 168001242 2073417 NA07022_36_chr21_37042588 2.63e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 171000760 2073417 HumanCNV370-Quadv3_C_rs2073417-128_B_R_1501707008 2.63e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 173099031 2073417 Human1M-Duov3_B_rs2073417-128_B_R_1501707008 2.63e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 204014022 2073417 BUSHMAN-chr21-37042587 2.63e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 208784672 2073417 BCM_CMT_1011-3240105 2.63e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 228558811 2073417 pilot_1_YRI_10368494_chr21_37042588 2.63e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 237978149 2073417 pilot_1_CEU_7582778_chr21_37042588 2.63e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 244117338 2073417 pilot_1_CHB+JPT_6002415_chr21_37042588 2.63e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 255946012 2073417 SNP32874_21_37042588 2.63e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 283537719 2073417 GMI_AK_SNP_7858140 2.63e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 480412430 2073417 HumanOmni2.5-4v1_B_rs2073417-128_B_R_1776826366 2.63e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 480425852 2073417 HumanOmniExpress-12v1_C_rs2073417-131_B_R_1857107067 2.63e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 481208874 2073417 HumanOmni1-Quad_v1-0_C_rs2073417-131_B_R_1865513892 2.63e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38120718G>A;NG_029519.1:g.53728G>A;NM_005069.3:c.*325G>A 485003746 2073417 HumanOmni2.5-4v1_D_rs2073417-131_B_R_1857107067 2.63e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38120907C>T;NG_029519.1:g.53917C>T;NM_005069.3:c.*514C>T 341012718 143274551 20100804_snps_12656259_chr21_38120907 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38120917C>T;NG_029519.1:g.53927C>T;NM_005069.3:c.*524C>T 466052751 187267724 20101123_snps_12219981_chr21_38120917 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121023T>C;NG_029519.1:g.54033T>C;NM_005069.3:c.*630T>C 466052752 192052675 20101123_snps_12219982_chr21_38121023 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121132A>G;NG_029519.1:g.54142A>G;NM_005069.3:c.*739A>G 466052753 183993217 20101123_snps_12219983_chr21_38121132 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121183T>C;NG_029519.1:g.54193T>C;NM_005069.3:c.*790T>C 341012719 138830830 20100804_snps_12656260_chr21_38121183 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38121201delT;NG_029519.1:g.54211delT;NM_005069.3:c.*808delT 193633809 113733314 BUSHMAN-chr21-37043070-37043071 2010.02.17 2010.02.17 2010.07.04 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38121220C>T;NG_029519.1:g.54230C>T;NM_005069.3:c.*827C>T 466052754 187735461 20101123_snps_12219984_chr21_38121220 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121280T>C;NG_029519.1:g.54290T>C;NM_005069.3:c.*887T>C 466052755 192705578 20101123_snps_12219985_chr21_38121280 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121335T>C;NG_029519.1:g.54345T>C;NM_005069.3:c.*942T>C 341012720 141289709 20100804_snps_12656261_chr21_38121335 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38121406G>A;NG_029519.1:g.54416G>A;NM_005069.3:c.*1013G>A 341012721 146981517 20100804_snps_12656262_chr21_38121406 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38121416C>T;NG_029519.1:g.54426C>T;NM_005069.3:c.*1023C>T 466052756 183614648 20101123_snps_12219986_chr21_38121416 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 2961766 2051397 TSC1075613 4.53e-01 2001.01.29 2004.04.07 2001.04.12 2012.11.28 137 YUSUKE 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 2987715 2051397 IMS-JST009737 4.53e-01 2001.05.24 2006.10.25 2001.04.12 2012.11.28 137 HGBASE 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 3188484 2051397 SNP000574068 4.53e-01 2001.07.09 2003.10.10 2001.04.12 2012.11.28 137 WUGSC_SSAHASNP 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 14434080 2051397 chr21.NT_011512.9_23781933 4.53e-01 2003.11.07 2003.11.22 2001.04.12 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 19485451 2051397 CSHL-HuDD-200402.chr21.NT_011512.9_23781933 4.53e-01 2004.02.21 2004.03.04 2001.04.12 2012.11.28 137 SSAHASNP 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 21817173 2051397 WGSA-200403-chr21.chr21.NT_011512.9_23781933 4.53e-01 2004.03.20 2004.03.20 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 65741136 2051397 Human1-rs2051397 4.53e-01 2006.10.10 2006.10.10 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 66675398 2051397 HumanHap300v1.1_rs2051397 4.53e-01 2006.11.09 2006.11.09 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 67219591 2051397 HumanHap550v1.1_rs2051397 4.53e-01 2006.11.14 2006.11.14 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 67613727 2051397 HumanHap650Yv1.0_rs2051397 4.53e-01 2006.11.14 2006.11.14 2001.04.12 2012.11.28 137 PERLEGEN 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 69253520 2051397 PGP04196403 4.53e-01 2007.01.30 2007.08.14 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 70697883 2051397 HumanHap550v3.0__rs2051397 4.53e-01 2007.04.20 2008.03.30 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 71263624 2051397 HumanHap650Yv3.0_rs2051397 4.53e-01 2007.04.23 2007.04.23 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 75573933 2051397 ILMN_Human_1M_rs2051397 4.53e-01 2007.08.29 2007.08.29 2001.04.12 2012.11.28 137 AFFY 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 76479513 2051397 AFFY_6_1M_SNP_A-8340607 4.53e-01 2007.08.30 2007.08.30 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 79110539 2051397 HumanHap300v2.0_rs2051397 4.53e-01 2007.11.18 2007.11.18 2001.04.12 2012.11.28 137 KRIBB_YJKIM 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 83957175 2051397 KHS583902 4.53e-01 2007.12.06 2007.12.06 2001.04.12 2012.11.28 137 BCMHGSC_JDW 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 91834718 2051397 JWB-1494589 4.53e-01 2008.03.02 2008.03.02 2001.04.12 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 96147494 2051397 1103643115929 4.53e-01 2008.03.25 2008.03.25 2001.04.12 2012.11.28 137 BGI 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 103822119 2051397 BGI_rs2051397 4.53e-01 2008.06.07 2009.06.18 2001.04.12 2012.11.28 137 ILLUMINA-UK 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 117520832 2051397 NA18507_000036566_NCBI36.1_chr21_37043407 4.53e-01 2009.01.19 2009.01.19 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 121901247 2051397 HumanCNV370v1_C_rs2051397 4.53e-01 2009.04.14 2009.04.14 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 133094358 2051397 ENSSNP1974411 4.53e-01 2009.05.12 2010.03.07 2001.04.12 2012.11.28 137 ENSEMBL 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 138314906 2051397 ENSSNP11885142 4.53e-01 2009.05.17 2009.05.17 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 153833302 2051397 Human610_Quadv1_B_rs2051397-128_T_R_1501726683 4.53e-01 2009.06.19 2009.06.20 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 159353338 2051397 Human660W-Quad_v1_A_rs2051397-128_T_R_1501726683 4.53e-01 2009.07.07 2009.07.07 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 160494513 2051397 HumanOmni1-Quad_v1-0_B_rs2051397-128_T_R_1512072972 4.53e-01 2009.08.06 2009.10.02 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 168001254 2051397 NA07022_36_chr21_37043407 4.53e-01 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 170978945 2051397 HumanCNV370-Quadv3_C_rs2051397-128_T_R_1501726683 4.53e-01 2009.10.01 2009.10.03 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 173072210 2051397 Human1M-Duov3_B_rs2051397-128_T_R_1501726683 4.53e-01 2009.10.02 2009.10.02 2001.04.12 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 204014023 2051397 BUSHMAN-chr21-37043406 4.53e-01 2010.03.10 2010.03.10 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 212084243 2051397 YRI.trio.3.2010_1500845_chr21_37043407 4.53e-01 2010.03.31 2010.03.31 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 228558812 2051397 pilot_1_YRI_10368495_chr21_37043407 4.53e-01 2010.04.22 2010.04.22 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 237978150 2051397 pilot_1_CEU_7582779_chr21_37043407 4.53e-01 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 244117339 2051397 pilot_1_CHB+JPT_6002416_chr21_37043407 4.53e-01 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 BL 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 255946014 2051397 SNP32875_21_37043407 4.53e-01 2010.08.20 2010.08.20 2001.04.12 2012.11.28 137 GMI 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 283537720 2051397 GMI_AK_SNP_7858141 4.53e-01 2010.12.16 2010.12.16 2001.04.12 2012.11.28 137 PJP 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 292708662 2051397 SNP_2215020_chr21_37043407 4.53e-01 2011.01.21 2011.01.21 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 480399214 2051397 HumanOmni2.5-4v1_B_rs2051397-128_T_R_1773535150 4.53e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 480412369 2051397 HumanOmniExpress-12v1_C_rs2051397-131_T_R_1857097560 4.53e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 481192674 2051397 HumanOmni1-Quad_v1-0_C_rs2051397-131_T_R_1865299222 4.53e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121537T>C;NG_029519.1:g.54547T>C;NM_005069.3:c.*1144T>C 484997217 2051397 HumanOmni2.5-4v1_D_rs2051397-131_T_R_1857097560 4.53e-01 2012.02.04 2012.02.04 2001.04.12 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121569G>A;NG_029519.1:g.54579G>A;NM_005069.3:c.*1176G>A 466052757 187207770 20101123_snps_12219987_chr21_38121569 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121572G>A;NG_029519.1:g.54582G>A;NM_005069.3:c.*1179G>A 113877257 73398116 NA19240_2008_12_16_3401883_chr21_37043442 1.28e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38121572G>A;NG_029519.1:g.54582G>A;NM_005069.3:c.*1179G>A 169456765 73398116 NA19240_36_chr21_37043442 1.28e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121572G>A;NG_029519.1:g.54582G>A;NM_005069.3:c.*1179G>A 228558813 73398116 pilot_1_YRI_10368496_chr21_37043442 1.28e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121572G>A;NG_029519.1:g.54582G>A;NM_005069.3:c.*1179G>A 480248384 73398116 HumanOmni2.5-4v1_D_kgp13111478-0_T_F_1825814691 1.28e-02 2012.01.31 2012.01.31 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38121572G>A;NG_029519.1:g.54582G>A;NM_005069.3:c.*1179G>A 484267534 73398116 HumanOmni2.5-4v1_B_SNP21-37043442-0_T_F_1624825268 1.28e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 CSHL-HAPMAP 6493 NC_000021.8:g.38121594A>G;NG_029519.1:g.54604A>G;NM_005069.3:c.*1201A>G 17704274 11909149 CSHL-HuCC-200402.chr21.NT_011512.9_23781990 1.80e-03 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6493 NC_000021.8:g.38121594A>G;NG_029519.1:g.54604A>G;NM_005069.3:c.*1201A>G 41447471 11909149 hCV31610086 1.80e-03 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121594A>G;NG_029519.1:g.54604A>G;NM_005069.3:c.*1201A>G 228558814 11909149 pilot_1_YRI_10368497_chr21_37043464 1.80e-03 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121721C>T;NG_029519.1:g.54731C>T;NM_005069.3:c.*1328C>T 466052758 191663786 20101123_snps_12219988_chr21_38121721 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121744_38121747delACTG;NG_029519.1:g.54754_54757delACTG;NM_005069.3:c.*1351_*1354delACTG 499804975 199548863 20110316_indels_chr21_38121743_38121746 2.51e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BGI 6493 NC_000021.8:g.38121746_38121748delTGA;NC_000021.8:g.38121746_38121748delTGAinsGAC;NG_029519.1:g.54756_54758delTGA;NG_029519.1:g.54756_54758delTGAinsGAC;NM_005069.3:c.*1353_*1355delTGA;NM_005069.3:c.*1353_*1355delTGAinsGAC 104735588 76677563 BGI_YHIndel43903 2008.06.09 2009.06.16 2009.12.01 2011.07.08 137 BUSHMAN 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 193633810 113168269 BUSHMAN-chr21-37043615-37043620 2.50e-01 2010.02.17 2010.02.17 2010.07.04 2012.11.28 137 GMI 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 289434426 113168269 GMI_AK_INDEL_1111906 2.50e-01 2010.12.30 2011.12.30 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 327986104 113168269 JPTCHB_chr21_37043615_indel 2.50e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 328091416 113168269 CEU_chr21_37043615_indel 2.50e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 328316711 113168269 YRI_chr21_37043615_indel 2.50e-01 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121746_38121750delTGACT;NG_029519.1:g.54756_54760delTGACT;NM_005069.3:c.*1353_*1357delTGACT 499804979 113168269 20110316_indels_chr21_38121745_38121749 2.50e-01 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 HGSV 6493 NC_000021.8:g.38121750delT;NG_029519.1:g.54760delT;NM_005069.3:c.*1357delT 79772219 61018468 Cor18507_DIV_20070510.chr21_37043636-37043638_1 2007.11.23 2007.11.23 2007.12.16 2012.11.28 137 HUMANGENOME_JCVI 6493 NC_000021.8:g.38121750delT;NG_029519.1:g.54760delT;NM_005069.3:c.*1357delT 95751160 61018468 1104685581958 2008.03.23 2008.12.03 2007.12.16 2012.11.28 137 PJP 6493 NC_000021.8:g.38121750delT;NG_029519.1:g.54760delT;NM_005069.3:c.*1357delT 295067597 61018468 DIP_505301_chr21_37043620 2011.01.23 2011.01.23 2007.12.16 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38121906G>A;NG_029519.1:g.54916G>A;NM_005069.3:c.*1513G>A 466052759 184620015 20101123_snps_12219989_chr21_38121906 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38121978C>T;NG_029519.1:g.54988C>T;NM_005069.3:c.*1585C>T 341012722 138240522 20100804_snps_12656263_chr21_38121978 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38121982G>C;NG_029519.1:g.54992G>C;NM_005069.3:c.*1589G>C 341012723 141775967 20100804_snps_12656264_chr21_38121982 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38122158C>T;NG_029519.1:g.55168C>T;NM_005069.3:c.*1765C>T 466052760 190163767 20101123_snps_12219990_chr21_38122158 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38122171T>C;NG_029519.1:g.55181T>C;NM_005069.3:c.*1778T>C 341012724 150097027 20100804_snps_12656265_chr21_38122171 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38122235C>T;NG_029519.1:g.55245C>T;NM_005069.3:c.*1842C>T 466052761 182271018 20101123_snps_12219991_chr21_38122235 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6493 NC_000021.8:g.38122311C>T;NG_029519.1:g.55321C>T;NM_005069.3:c.*1918C>T 228558815 78649032 pilot_1_YRI_10368498_chr21_37044181 2.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6493 NC_000021.8:g.38122332C>G;NG_029519.1:g.55342C>G;NM_005069.3:c.*1939C>G 341012725 138364477 20100804_snps_12656266_chr21_38122332 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 204014024 76431889 BUSHMAN-chr21-37044283 7.14e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 228558816 76431889 pilot_1_YRI_10368499_chr21_37044284 7.14e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 244117340 76431889 pilot_1_CHB+JPT_6002417_chr21_37044284 7.14e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 283537721 76431889 GMI_AK_SNP_7858142 7.14e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 480261242 76431889 HumanOmni2.5-4v1_D_kgp13164112-0_T_R_1825919939 7.14e-02 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38122414T>G;NG_029519.1:g.55424T>G;NM_005069.3:c.*2021T>G 484267536 76431889 HumanOmni2.5-4v1_B_SNP21-37044284-0_T_R_1635157615 7.14e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122469G>A;NG_029519.1:g.55479G>A;NM_005069.3:c.*2076G>A 237978151 77891468 pilot_1_CEU_7582780_chr21_37044339 1.80e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122473C>A;NG_029519.1:g.55483C>A;NM_005069.3:c.*2080C>A 341012726 149277768 20100804_snps_12656267_chr21_38122473 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6493 ARRAY(0x4435eee0) 499804983 201993686 20110316_indels_chr21_38122528_38122528 4.10e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BUSHMAN 6493 NC_000021.8:g.38122542C>T;NG_029519.1:g.55552C>T;NM_005069.3:c.*2149C>T 204014025 113490233 BUSHMAN-chr21-37044411 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 112461799 73210779 CEU.trio.12.15.2008_3763671_chr21_37044612 9.29e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 172014136 73210779 NA20431_36_chr21_37044612 9.29e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 237978152 73210779 pilot_1_CEU_7582781_chr21_37044612 9.29e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 244117341 73210779 pilot_1_CHB+JPT_6002418_chr21_37044612 9.29e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 475855883 73210779 GMI_AK_SNP_8524381 9.29e-02 2011.11.24 2011.11.24 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 483253225 73210779 HumanOmni2.5-4v1_D_kgp3881867-0_T_F_1819965848 9.29e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 ILLUMINA 6493 NC_000021.8:g.38122742G>A;NG_029519.1:g.55752G>A;NM_005069.3:c.*2349G>A 484267538 73210779 HumanOmni2.5-4v1_B_SNP21-37044612-0_T_F_1618938182 9.29e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 # Report date: 2013.2.9, Gene: SIM2 (6493), ss count: 3699, rs count: 1037.