# 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 80324 NC_000012.11:g.132411773C>G;NG_013039.1:g.3029C>G;NM_001002020.2:c.-2163C>G 463214694 181726656 20101123_snps_9381924_chr12_132411773 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132411795G>A;NG_013039.1:g.3051G>A;NM_001002020.2:c.-2141G>A 337720924 146229820 20100804_snps_9364465_chr12_132411795 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 5154798 3923718 TSC0080421 4.84e-01 2002.09.19 2003.10.10 2002.10.10 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 6871667 3923718 NT_035243.2_102201 4.84e-01 2003.02.14 2003.10.10 2002.10.10 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 16563422 3923718 CSHL-HuAA-200402.chr12.NT_035243.4_381592 4.84e-01 2004.02.17 2004.03.04 2002.10.10 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 97265578 3923718 1103649579648 4.84e-01 2008.03.28 2008.03.28 2002.10.10 2012.11.28 137 BGI 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 103097607 3923718 BGI_rs3923718 4.84e-01 2008.06.05 2009.06.17 2002.10.10 2012.11.28 137 GMI 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 158081486 3923718 GMI_SNP_114888302 4.84e-01 2009.06.25 2009.06.25 2002.10.10 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 161500002 3923718 ENSSNP698450 4.84e-01 2009.09.25 2010.03.07 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 168799327 3923718 NA07022_36_chr12_130977759 4.84e-01 2009.10.01 2009.10.01 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 171209218 3923718 NA19240_36_chr12_130977759 4.84e-01 2009.10.01 2009.10.01 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 175316033 3923718 NA20431_36_chr12_130977759 4.84e-01 2009.10.05 2009.10.05 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 226048912 3923718 pilot_1_YRI_7858595_chr12_130977759 4.84e-01 2010.04.22 2010.04.22 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 236151395 3923718 pilot_1_CEU_5756024_chr12_130977759 4.84e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 242667676 3923718 pilot_1_CHB+JPT_4552753_chr12_130977759 4.84e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 BL 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 255400687 3923718 SNP145205_12_130977759 4.84e-01 2010.08.20 2010.08.20 2002.10.10 2012.11.28 137 GMI 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 281611119 3923718 GMI_AK_SNP_5931508 4.84e-01 2010.12.16 2010.12.16 2002.10.10 2012.11.28 137 PJP 80324 NC_000012.11:g.132411806G>A;NG_013039.1:g.3062G>A;NM_001002019.2:c.-2154G>A;NM_001002020.2:c.-2130G>A 291375305 3923718 SNP_881663_chr12_130977759 4.84e-01 2011.01.21 2011.01.21 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411877C>G;NG_013039.1:g.3133C>G;NM_001002019.2:c.-2083C>G;NM_001002020.2:c.-2059C>G;NM_025215.5:c.-2391C>G 337720925 139315699 20100804_snps_9364466_chr12_132411877 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 12223593 7978708 chr12.NT_035243.4_381690 2.33e-01 2003.07.04 2008.03.31 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 19241601 7978708 CSHL-HuDD-200402.chr12.NT_035243.4_381690 2.33e-01 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 20959170 7978708 WGSA-200403-chr12.chr12.NT_035243.4_381690 2.33e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 ABI 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 40103859 7978708 hCV30691008 2.33e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 AFFY 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 66085426 7978708 SNP_A-1928417 2.33e-01 2006.10.27 2008.03.31 2003.07.11 2012.11.28 137 PERLEGEN 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 69126279 7978708 PGP08154734 2.33e-01 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 75068697 7978708 ILMN_Human_1M_rs7978708 2.33e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 AFFY 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 76032496 7978708 AFFY_6_1M_SNP_A-1928417 2.33e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 82527428 7978708 KHS272682 2.33e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 84328585 7978708 Cor19129_SNV_20070510.chr12_131078134 2.33e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 89487575 7978708 JWB-0631274 2.33e-01 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 112566284 7978708 CEU.trio.12.15.2008_2843574_chr12_130977857 2.33e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 114328695 7978708 NA19240_2008_12_16_2558327_chr12_130977857 2.33e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 119802647 7978708 NA18507_000164976_NCBI36.1_chr12_130977857 2.33e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 133445651 7978708 ENSSNP10705307 2.33e-01 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 160935680 7978708 HumanOmni1-Quad_v1-0_B_rs7978708-128_T_R_1514052912 2.33e-01 2009.08.07 2009.10.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 161500004 7978708 ENSSNP698451 2.33e-01 2009.09.25 2010.03.07 2003.07.11 2012.11.28 137 AFFY 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 170645232 7978708 GenomeWideSNP_5_SNP_A-1928417 2.33e-01 2009.10.01 2009.10.02 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 171209229 7978708 NA19240_36_chr12_130977857 2.33e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 174650852 7978708 Human1M-Duov3_B_rs7978708-128_T_R_1514052912 2.33e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 198895481 7978708 BUSHMAN-chr12-130977856 2.33e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 226048913 7978708 pilot_1_YRI_7858596_chr12_130977857 2.33e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 236151396 7978708 pilot_1_CEU_5756025_chr12_130977857 2.33e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 242667677 7978708 pilot_1_CHB+JPT_4552754_chr12_130977857 2.33e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 281611120 7978708 GMI_AK_SNP_5931509 2.33e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 291375306 7978708 SNP_881664_chr12_130977857 2.33e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 481739175 7978708 HumanOmni2.5-4v1_B_rs7978708-128_T_R_1772866968 2.33e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 481770892 7978708 HumanOmniExpress-12v1_C_rs7978708-131_T_R_1857444412 2.33e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 482735661 7978708 HumanOmni1-Quad_v1-0_C_rs7978708-131_T_R_1865665356 2.33e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132411904T>C;NG_013039.1:g.3160T>C;NM_001002019.2:c.-2056T>C;NM_001002020.2:c.-2032T>C;NM_025215.5:c.-2364T>C 485664329 7978708 HumanOmni2.5-4v1_D_rs7978708-131_T_R_1857444412 2.33e-01 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132411927G>T;NG_013039.1:g.3183G>T;NM_001002019.2:c.-2033G>T;NM_001002020.2:c.-2009G>T;NM_025215.5:c.-2341G>T 89487579 61942437 JWB-2839738 2008.02.28 2008.02.28 2008.03.24 2011.09.09 137 ENSEMBL 80324 NC_000012.11:g.132411927G>T;NG_013039.1:g.3183G>T;NM_001002019.2:c.-2033G>T;NM_001002020.2:c.-2009G>T;NM_025215.5:c.-2341G>T 133445654 61942437 ENSSNP10705308 2009.05.12 2009.05.14 2008.03.24 2011.09.09 137 ILLUMINA-UK 80324 NC_000012.11:g.132411972G>T;NG_013039.1:g.3228G>T;NM_001002019.2:c.-1988G>T;NM_001002020.2:c.-1964G>T;NM_025215.5:c.-2296G>T 119802650 76885032 NA18507_000164977_NCBI36.1_chr12_130977925 2.30e-03 2009.02.05 2009.02.05 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132411972G>T;NG_013039.1:g.3228G>T;NM_001002019.2:c.-1988G>T;NM_001002020.2:c.-1964G>T;NM_025215.5:c.-2296G>T 337720926 76885032 20100804_snps_9364467_chr12_132411972 2.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412058G>A;NG_013039.1:g.3314G>A;NM_001002019.2:c.-1902G>A;NM_001002020.2:c.-1878G>A;NM_025215.5:c.-2210G>A 337720927 150582893 20100804_snps_9364468_chr12_132412058 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 5154797 3923717 TSC0080420 4.83e-01 2002.09.19 2003.10.10 2002.10.10 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 6871666 3923717 NT_035243.2_101874 4.83e-01 2003.02.14 2003.10.10 2002.10.10 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 12186214 3923717 chr12.NT_035243.4_381919 4.83e-01 2003.07.04 2003.10.10 2002.10.10 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 20911957 3923717 WGSA-200403-chr12.chr12.NT_035243.4_381919 4.83e-01 2004.03.19 2004.03.19 2002.10.10 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 83509868 3923717 Cor18956_SNV_20070510.chr12_131078363 4.83e-01 2007.12.05 2007.12.05 2002.10.10 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 97265579 3923717 1103649579649 4.83e-01 2008.03.28 2008.03.28 2002.10.10 2012.11.28 137 BGI 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 103097608 3923717 BGI_rs3923717 4.83e-01 2008.06.05 2009.06.17 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 112566288 3923717 CEU.trio.12.15.2008_2843575_chr12_130978086 4.83e-01 2008.12.17 2008.12.17 2002.10.10 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 142714309 3923717 ENSSNP9370640 4.83e-01 2009.06.05 2009.10.16 2002.10.10 2012.11.28 137 GMI 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 158081492 3923717 GMI_SNP_114610314 4.83e-01 2009.06.25 2009.06.25 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 168799328 3923717 NA07022_36_chr12_130978086 4.83e-01 2009.10.01 2009.10.01 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 171209244 3923717 NA19240_36_chr12_130978086 4.83e-01 2009.10.01 2009.10.01 2002.10.10 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 208403755 3923717 BCM_CMT_1011-2429385 4.83e-01 2010.03.19 2010.03.19 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 211365277 3923717 YRI.trio.3.2010_1143044_chr12_130978086 4.83e-01 2010.03.30 2010.03.30 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 226048914 3923717 pilot_1_YRI_7858597_chr12_130978086 4.83e-01 2010.04.22 2010.04.22 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 236151397 3923717 pilot_1_CEU_5756026_chr12_130978086 4.83e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 242667678 3923717 pilot_1_CHB+JPT_4552755_chr12_130978086 4.83e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 BL 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 255400689 3923717 SNP145206_12_130978086 4.83e-01 2010.08.20 2010.08.20 2002.10.10 2012.11.28 137 GMI 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 281611121 3923717 GMI_AK_SNP_5931510 4.83e-01 2010.12.16 2010.12.16 2002.10.10 2012.11.28 137 PJP 80324 NC_000012.11:g.132412133G>A;NG_013039.1:g.3389G>A;NM_001002019.2:c.-1827G>A;NM_001002020.2:c.-1803G>A;NM_025215.5:c.-2135G>A 291375307 3923717 SNP_881665_chr12_130978086 4.83e-01 2011.01.21 2011.01.21 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412141C>T;NG_013039.1:g.3397C>T;NM_001002019.2:c.-1819C>T;NM_001002020.2:c.-1795C>T;NM_025215.5:c.-2127C>T 463214695 184369032 20101123_snps_9381925_chr12_132412141 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132412157G>A;NG_013039.1:g.3413G>A;NM_001002019.2:c.-1803G>A;NM_001002020.2:c.-1779G>A;NM_025215.5:c.-2111G>A 463214696 188729069 20101123_snps_9381926_chr12_132412157 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 8062050 5801963 INDEL_GP31_117755 4.86e-01 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 15278156 5801963 INDEL_GP34_WGS_417100 4.86e-01 2003.11.13 2003.11.22 2003.04.21 2012.11.28 137 ABI 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 40214185 5801963 hCV32452302 4.86e-01 2005.07.16 2005.07.16 2003.04.21 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 81071431 5801963 Cor18956_DIV_20070510.chr12_131078417-131078418_1 4.86e-01 2007.11.27 2007.11.27 2003.04.21 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 95612259 5801963 1104685318204 4.86e-01 2008.03.22 2008.12.03 2003.04.21 2012.11.28 137 BL 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 256143007 5801963 SNP9046_12_130978140 4.86e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 287900254 5801963 GMI_NA10851_INDEL_233495 4.86e-01 2010.12.20 2010.12.22 2003.04.21 2012.11.28 137 GMI 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 289161973 5801963 GMI_AK_INDEL_835499 4.86e-01 2010.12.28 2011.12.28 2003.04.21 2012.11.28 137 PJP 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 294783810 5801963 DIP_221514_chr12_130978140 4.86e-01 2011.01.22 2011.01.22 2003.04.21 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 327498396 5801963 JPTCHB_chr12_130978140_indel 4.86e-01 2011.03.12 2011.04.03 2003.04.21 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 327597893 5801963 CEU_chr12_130978140_indel 4.86e-01 2011.03.12 2011.04.03 2003.04.21 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 328047586 5801963 YRI_chr12_130978140_indel 4.86e-01 2011.03.13 2011.04.03 2003.04.21 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412187_132412188insG;NG_013039.1:g.3443_3444insG;NM_001002019.2:c.-1773_-1772insG;NM_001002020.2:c.-1749_-1748insG;NM_025215.5:c.-2081_-2080insG 499906920 5801963 20110316_indels_chr12_132412187_132412188 4.86e-01 2012.03.20 2012.03.20 2003.04.21 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 49974598 33953743 INDEL_GP35_TSC_184279 2006.01.23 2006.01.23 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 50265150 33953743 INDEL_GP35_WGS_517012 2006.01.24 2006.01.24 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675904 33953743 INDEL_GP36_2008a_205146_1 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675906 33953743 INDEL_GP36_2008a_205146_2 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675908 33953743 INDEL_GP36_2008a_205146_3 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675910 33953743 INDEL_GP36_2008a_205146_4 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675913 33953743 INDEL_GP36_2008a_205146_5 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675914 33953743 INDEL_GP36_2008a_205146_6 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675916 33953743 INDEL_GP36_2008a_205146_7 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 94675918 33953743 INDEL_GP36_2008a_205146_8 2008.03.07 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 99395091 33953743 INDEL_GP36_2007a_205146_0 2008.05.05 2008.05.05 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960521 33953743 INDEL_GP36_2008a_205146_9 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960524 33953743 INDEL_GP36_2008a_205146_10 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960527 33953743 INDEL_GP36_2008a_205146_11 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960530 33953743 INDEL_GP36_2008a_205146_12 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960533 33953743 INDEL_GP36_2008a_205146_13 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 DEVINE_LAB 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 100960538 33953743 INDEL_GP36_2008a_205146_14 2008.05.17 2008.05.17 2006.03.13 2011.09.17 137 PJP 80324 NC_000012.11:g.132412188_132412189insG;NG_013039.1:g.3444_3445insG;NM_001002019.2:c.-1772_-1771insG;NM_001002020.2:c.-1748_-1747insG;NM_025215.5:c.-2080_-2079insG 294783811 33953743 DIP_221515_chr12_130978141 2011.01.22 2011.01.22 2006.03.13 2011.09.17 137 TSC-CSHL 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 5154796 3923716 TSC0080419 2.30e-01 2002.09.19 2004.04.07 2002.10.10 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 12212503 3923716 chr12.NT_035243.4_382046 2.30e-01 2003.07.04 2003.10.10 2002.10.10 2012.11.28 137 ABI 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 38973876 3923716 hCV28959057 2.30e-01 2005.07.16 2005.07.16 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 66810545 3923716 HumanHap300v1.1_rs3923716 2.30e-01 2006.11.09 2006.11.09 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 67311500 3923716 HumanHap550v1.1_rs3923716 2.30e-01 2006.11.14 2006.11.14 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 67717356 3923716 HumanHap650Yv1.0_rs3923716 2.30e-01 2006.11.14 2006.11.14 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 70790155 3923716 HumanHap550v3.0__rs3923716 2.30e-01 2007.04.20 2008.03.30 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 71367543 3923716 HumanHap650Yv3.0_rs3923716 2.30e-01 2007.04.23 2007.04.23 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 75828963 3923716 ILMN_Human_1M_rs3923716 2.30e-01 2007.08.29 2007.08.29 2002.10.10 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 77738050 3923716 Cor12156_SNV_20070510.chr12_131078490 2.30e-01 2007.10.14 2007.10.14 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 79173018 3923716 HumanHap300v2.0_rs3923716 2.30e-01 2007.11.18 2007.11.18 2002.10.10 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 80913400 3923716 Cor18507_SNV_20070510.chr12_131078490 2.30e-01 2007.11.27 2007.11.27 2002.10.10 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 84217112 3923716 KHS660322 2.30e-01 2007.12.06 2007.12.06 2002.10.10 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 85808798 3923716 Cor19129_SNV_20070510.chr12_131078490 2.30e-01 2007.12.10 2007.12.10 2002.10.10 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 89487583 3923716 JWB-0631275 2.30e-01 2008.02.28 2008.02.28 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 112566292 3923716 CEU.trio.12.15.2008_2843576_chr12_130978213 2.30e-01 2008.12.17 2008.12.17 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 114328698 3923716 NA19240_2008_12_16_2558328_chr12_130978213 2.30e-01 2008.12.18 2008.12.18 2002.10.10 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 119802654 3923716 NA18507_000164978_NCBI36.1_chr12_130978213 2.30e-01 2009.02.05 2009.02.05 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 122257057 3923716 HumanCNV370v1_C_rs3923716 2.30e-01 2009.04.15 2009.04.15 2002.10.10 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 133445657 3923716 ENSSNP6253658 2.30e-01 2009.05.12 2009.05.14 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 154278288 3923716 Human610_Quadv1_B_rs3923716-127_B_F_1501768692 2.30e-01 2009.06.20 2009.06.20 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 159454928 3923716 Human660W-Quad_v1_A_rs3923716-128_B_F_1501768692 2.30e-01 2009.07.07 2009.07.07 2002.10.10 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 171209257 3923716 NA19240_36_chr12_130978213 2.30e-01 2009.10.01 2009.10.01 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 171715064 3923716 HumanCNV370-Quadv3_C_rs3923716-127_B_F_1501768692 2.30e-01 2009.10.01 2009.10.04 2002.10.10 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 173674076 3923716 Human1M-Duov3_B_rs3923716-127_B_F_1501768692 2.30e-01 2009.10.04 2009.10.04 2002.10.10 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 198895485 3923716 BUSHMAN-chr12-130978212 2.30e-01 2010.03.06 2010.03.06 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 226048915 3923716 pilot_1_YRI_7858598_chr12_130978213 2.30e-01 2010.04.22 2010.04.22 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 236151398 3923716 pilot_1_CEU_5756027_chr12_130978213 2.30e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 242667679 3923716 pilot_1_CHB+JPT_4552756_chr12_130978213 2.30e-01 2010.05.01 2010.05.01 2002.10.10 2012.11.28 137 GMI 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 281611122 3923716 GMI_AK_SNP_5931511 2.30e-01 2010.12.16 2010.12.16 2002.10.10 2012.11.28 137 PJP 80324 NC_000012.11:g.132412260C>A;NG_013039.1:g.3516C>A;NM_001002019.2:c.-1700C>A;NM_001002020.2:c.-1676C>A;NM_025215.5:c.-2008C>A 291375308 3923716 SNP_881666_chr12_130978213 2.30e-01 2011.01.21 2011.01.21 2002.10.10 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132412292delC;NG_013039.1:g.3548delC;NM_001002019.2:c.-1668delC;NM_001002020.2:c.-1644delC;NM_025215.5:c.-1976delC 8062049 5801962 INDEL_GP31_108076 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 ABI 80324 NC_000012.11:g.132412292delC;NG_013039.1:g.3548delC;NM_001002019.2:c.-1668delC;NM_001002020.2:c.-1644delC;NM_025215.5:c.-1976delC 40088133 5801962 hCV32452303 2005.07.16 2005.07.16 2003.04.21 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132412320C>T;NG_013039.1:g.3576C>T;NM_001002019.2:c.-1640C>T;NM_001002020.2:c.-1616C>T;NM_025215.5:c.-1948C>T 463214697 181160609 20101123_snps_9381927_chr12_132412320 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132412381C>A;NG_013039.1:g.3637C>A;NM_001002019.2:c.-1579C>A;NM_001002020.2:c.-1555C>A;NM_025215.5:c.-1887C>A 337720928 139652121 20100804_snps_9364469_chr12_132412381 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 6871665 4964913 NT_035243.2_101519 2.60e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 12212969 4964913 chr12.NT_035243.4_382274 2.60e-01 2003.07.04 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 17459989 4964913 CSHL-HuCC-200402.chr12.NT_035243.4_382274 2.60e-01 2004.02.19 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 20913529 4964913 WGSA-200403-chr12.chr12.NT_035243.4_382274 2.60e-01 2004.03.19 2004.03.19 2003.02.20 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 77739976 4964913 Cor12156_SNV_20070510.chr12_131078718 2.60e-01 2007.10.14 2007.10.14 2003.02.20 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 78669834 4964913 Cor12878_SNV_20070510.chr12_131078718 2.60e-01 2007.10.20 2007.10.20 2003.02.20 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 84893898 4964913 Cor19240_SNV_20070510.chr12_131078718 2.60e-01 2007.12.08 2007.12.08 2003.02.20 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 85811835 4964913 Cor19129_SNV_20070510.chr12_131078718 2.60e-01 2007.12.10 2007.12.10 2003.02.20 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 89487587 4964913 JWB-0631276 2.60e-01 2008.02.28 2008.02.28 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 97265580 4964913 1103649579650 2.60e-01 2008.03.28 2008.03.28 2003.02.20 2012.11.28 137 BGI 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 103097609 4964913 BGI_rs4964913 2.60e-01 2008.06.05 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 112566296 4964913 CEU.trio.12.15.2008_2843577_chr12_130978441 2.60e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 114328710 4964913 NA19240_2008_12_16_2558329_chr12_130978441 2.60e-01 2008.12.18 2008.12.18 2003.02.20 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 119802655 4964913 NA18507_000164979_NCBI36.1_chr12_130978441 2.60e-01 2009.02.05 2009.02.05 2003.02.20 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 137530593 4964913 ENSSNP698452 2.60e-01 2009.05.16 2009.10.15 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 158081500 4964913 GMI_SNP_114529933 2.60e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 168799333 4964913 NA07022_36_chr12_130978441 2.60e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 171209262 4964913 NA19240_36_chr12_130978441 2.60e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 175316034 4964913 NA20431_36_chr12_130978441 2.60e-01 2009.10.05 2009.10.05 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 208440815 4964913 BCM_CMT_1011-2441879 2.60e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 226048916 4964913 pilot_1_YRI_7858599_chr12_130978441 2.60e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 236151399 4964913 pilot_1_CEU_5756028_chr12_130978441 2.60e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 242667680 4964913 pilot_1_CHB+JPT_4552757_chr12_130978441 2.60e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 255400692 4964913 SNP145207_12_130978441 2.60e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 281611123 4964913 GMI_AK_SNP_5931512 2.60e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 80324 NC_000012.11:g.132412488C>A;NG_013039.1:g.3744C>A;NM_001002019.2:c.-1472C>A;NM_001002020.2:c.-1448C>A;NM_025215.5:c.-1780C>A 291375309 4964913 SNP_881667_chr12_130978441 2.60e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 12213202 7973178 chr12.NT_035243.4_382383 2.32e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 15677317 7973178 NT_035243.4_382383 2.32e-01 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 17460059 7973178 CSHL-HuCC-200402.chr12.NT_035243.4_382383 2.32e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 ABI 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 40141175 7973178 hCV30691009 2.32e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 83199534 7973178 Cor18956_SNV_20070510.chr12_131078827 2.32e-01 2007.12.04 2007.12.04 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 89487591 7973178 JWB-0631277 2.32e-01 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 112566300 7973178 CEU.trio.12.15.2008_2843578_chr12_130978550 2.32e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 114328718 7973178 NA19240_2008_12_16_2558330_chr12_130978550 2.32e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 119802658 7973178 NA18507_000164980_NCBI36.1_chr12_130978550 2.32e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 171209273 7973178 NA19240_36_chr12_130978550 2.32e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 198895488 7973178 BUSHMAN-chr12-130978549 2.32e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 226048917 7973178 pilot_1_YRI_7858600_chr12_130978550 2.32e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 236151400 7973178 pilot_1_CEU_5756029_chr12_130978550 2.32e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 242667681 7973178 pilot_1_CHB+JPT_4552758_chr12_130978550 2.32e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132412597C>G;NG_013039.1:g.3853C>G;NM_001002019.2:c.-1363C>G;NM_001002020.2:c.-1339C>G;NM_025215.5:c.-1671C>G 281611124 7973178 GMI_AK_SNP_5931513 2.32e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132412621G>T;NG_013039.1:g.3877G>T;NM_001002019.2:c.-1339G>T;NM_001002020.2:c.-1315G>T;NM_025215.5:c.-1647G>T 337720929 149663403 20100804_snps_9364470_chr12_132412621 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132412771G>C;NG_013039.1:g.4027G>C;NM_001002019.2:c.-1189G>C;NM_001002020.2:c.-1165G>C;NM_025215.5:c.-1497G>C 463214698 185423093 20101123_snps_9381928_chr12_132412771 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132412836G>C;NG_013039.1:g.4092G>C;NM_001002019.2:c.-1124G>C;NM_001002020.2:c.-1100G>C;NM_025215.5:c.-1432G>C 226048918 116834601 pilot_1_YRI_7858601_chr12_130978789 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132412865C>G;NG_013039.1:g.4121C>G;NM_001002019.2:c.-1095C>G;NM_001002020.2:c.-1071C>G;NM_025215.5:c.-1403C>G 463214699 190714202 20101123_snps_9381929_chr12_132412865 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 80324 NC_000012.11:g.132412901_132412902insAA;NG_013039.1:g.4157_4158insAA;NM_001002019.2:c.-1059_-1058insAA;NM_001002020.2:c.-1035_-1034insAA;NM_025215.5:c.-1367_-1366insAA 40177883 34111708 hCV32452304 2005.07.16 2005.07.16 2006.03.13 2011.07.08 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 15097174 10664656 INDEL_GP34_WGS_187793 2003.11.13 2003.11.22 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 50136458 10664656 INDEL_GP35_WGS_351027 2006.01.24 2006.01.24 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 94513250 10664656 INDEL_GP36_2008a_113049_1 2008.03.06 2008.05.17 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 94513253 10664656 INDEL_GP36_2008a_113049_2 2008.03.06 2008.05.17 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 99313068 10664656 INDEL_GP36_2007a_205560_0 2008.05.04 2008.05.04 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 99428311 10664656 INDEL_GP36_2007a_2934507_0 2008.05.05 2008.05.05 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 99432495 10664656 INDEL_GP36_2007a_113049_0 2008.05.05 2008.05.05 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 99585221 10664656 INDEL_GP36_2007a_205685_0 2008.05.05 2008.05.05 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 100181916 10664656 INDEL_GP36_2008a_2208363_0 2008.05.16 2008.05.16 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 100181919 10664656 INDEL_GP36_2008a_2208363_1 2008.05.16 2008.05.16 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 100726984 10664656 INDEL_GP36_2008a_1285744_0 2008.05.17 2008.05.17 2003.12.05 2012.08.01 137 DEVINE_LAB 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 102535681 10664656 INDEL_GP36_2008a_2245367_0 2008.05.18 2008.05.18 2003.12.05 2012.08.01 137 BCMHGSC_JDW 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 103542199 10664656 JWB-4032727 2008.06.06 2009.05.11 2003.12.05 2012.08.01 137 PJP 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 294783812 10664656 DIP_221516_chr12_130978855 2011.01.22 2011.01.22 2003.12.05 2012.08.01 137 PJP 80324 NC_000012.11:g.132412902_132412903insA;NC_000012.11:g.132412902_132412903insAA;NC_000012.11:g.132412902_132412903insAAAA;NG_013039.1:g.4158_4159insA;NG_013039.1:g.4158_4159insAA;NG_013039.1:g.4158_4159insAAAA;NM_001002019.2:c.-1058_-1057insA;NM_001002019.2:c.-1058_-1057insAA;NM_001002019.2:c.-1058_-1057insAAAA;NM_001002020.2:c.-1034_-1033insA;NM_001002020.2:c.-1034_-1033insAA;NM_001002020.2:c.-1034_-1033insAAAA;NM_025215.5:c.-1366_-1365insA;NM_025215.5:c.-1366_-1365insAA;NM_025215.5:c.-1366_-1365insAAAA 294783813 10664656 DIP_221517_chr12_130978872 2011.01.22 2011.01.22 2003.12.05 2012.08.01 137 HGSV 80324 NC_000012.11:g.132412920_132412921insA;NC_000012.11:g.132412920_132412921insAA;NC_000012.11:g.132412920_132412921insAAAA;NG_013039.1:g.4176_4177insA;NG_013039.1:g.4176_4177insAA;NG_013039.1:g.4176_4177insAAAA;NM_001002019.2:c.-1040_-1039insA;NM_001002019.2:c.-1040_-1039insAA;NM_001002019.2:c.-1040_-1039insAAAA;NM_001002020.2:c.-1016_-1015insA;NM_001002020.2:c.-1016_-1015insAA;NM_001002020.2:c.-1016_-1015insAAAA;NM_025215.5:c.-1348_-1347insA;NM_025215.5:c.-1348_-1347insAA;NM_025215.5:c.-1348_-1347insAAAA 81869156 56727915 Cor18956_DIV_20070510.chr12_131079150-131079151_1 2007.12.01 2007.12.01 2007.12.14 2012.05.16 137 HGSV 80324 NC_000012.11:g.132412920_132412921insA;NC_000012.11:g.132412920_132412921insAA;NC_000012.11:g.132412920_132412921insAAAA;NG_013039.1:g.4176_4177insA;NG_013039.1:g.4176_4177insAA;NG_013039.1:g.4176_4177insAAAA;NM_001002019.2:c.-1040_-1039insA;NM_001002019.2:c.-1040_-1039insAA;NM_001002019.2:c.-1040_-1039insAAAA;NM_001002020.2:c.-1016_-1015insA;NM_001002020.2:c.-1016_-1015insAA;NM_001002020.2:c.-1016_-1015insAAAA;NM_025215.5:c.-1348_-1347insA;NM_025215.5:c.-1348_-1347insAA;NM_025215.5:c.-1348_-1347insAAAA 82055792 56727915 Cor19129_DIV_20070510.chr12_131079150-131079151_1 2007.12.02 2007.12.02 2007.12.14 2012.05.16 137 HGSV 80324 NC_000012.11:g.132412920_132412921insA;NC_000012.11:g.132412920_132412921insAA;NC_000012.11:g.132412920_132412921insAAAA;NG_013039.1:g.4176_4177insA;NG_013039.1:g.4176_4177insAA;NG_013039.1:g.4176_4177insAAAA;NM_001002019.2:c.-1040_-1039insA;NM_001002019.2:c.-1040_-1039insAA;NM_001002019.2:c.-1040_-1039insAAAA;NM_001002020.2:c.-1016_-1015insA;NM_001002020.2:c.-1016_-1015insAA;NM_001002020.2:c.-1016_-1015insAAAA;NM_025215.5:c.-1348_-1347insA;NM_025215.5:c.-1348_-1347insAA;NM_025215.5:c.-1348_-1347insAAAA 82393125 56727915 Cor19240_DIV_20070510.chr12_131079150-131079151_1 2007.12.02 2007.12.02 2007.12.14 2012.05.16 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132412920_132412921insA;NC_000012.11:g.132412920_132412921insAA;NC_000012.11:g.132412920_132412921insAAAA;NG_013039.1:g.4176_4177insA;NG_013039.1:g.4176_4177insAA;NG_013039.1:g.4176_4177insAAAA;NM_001002019.2:c.-1040_-1039insA;NM_001002019.2:c.-1040_-1039insAA;NM_001002019.2:c.-1040_-1039insAAAA;NM_001002020.2:c.-1016_-1015insA;NM_001002020.2:c.-1016_-1015insAA;NM_001002020.2:c.-1016_-1015insAAAA;NM_025215.5:c.-1348_-1347insA;NM_025215.5:c.-1348_-1347insAA;NM_025215.5:c.-1348_-1347insAAAA 95612260 56727915 1104685318203 2008.03.22 2008.12.03 2007.12.14 2012.05.16 137 1000GENOMES 80324 NC_000012.11:g.132412978G>C;NG_013039.1:g.4234G>C;NM_001002019.2:c.-982G>C;NM_001002020.2:c.-958G>C;NM_025215.5:c.-1290G>C 463214700 182558850 20101123_snps_9381930_chr12_132412978 1.19e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132412998G>C;NG_013039.1:g.4254G>C;NM_001002019.2:c.-962G>C;NM_001002020.2:c.-938G>C;NM_025215.5:c.-1270G>C 337720930 144465666 20100804_snps_9364471_chr12_132412998 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132413193T>C;NG_013039.1:g.4449T>C;NM_001002019.2:c.-767T>C;NM_001002020.2:c.-743T>C;NM_025215.5:c.-1075T>C 463214701 187194951 20101123_snps_9381931_chr12_132413193 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132413485G>A;NG_013039.1:g.4741G>A;NM_001002019.2:c.-475G>A;NM_001002020.2:c.-451G>A;NM_025215.5:c.-783G>A 463214702 192129469 20101123_snps_9381932_chr12_132413485 2.61e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 80324 NC_000012.11:g.132413598A>C;NG_013039.1:g.4854A>C;NM_001002019.2:c.-362A>C;NM_001002020.2:c.-338A>C;NM_025215.5:c.-670A>C 133445660 78255464 ENSSNP7375953 2.38e-01 2009.05.12 2009.05.14 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132413598A>C;NG_013039.1:g.4854A>C;NM_001002019.2:c.-362A>C;NM_001002020.2:c.-338A>C;NM_025215.5:c.-670A>C 208441700 78255464 BCM_CMT_1011-2442175 2.38e-01 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413598A>C;NG_013039.1:g.4854A>C;NM_001002019.2:c.-362A>C;NM_001002020.2:c.-338A>C;NM_025215.5:c.-670A>C 242667683 78255464 pilot_1_CHB+JPT_4552760_chr12_130979551 2.38e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132413646T>C;NG_013039.1:g.4902T>C;NM_001002019.2:c.-314T>C;NM_001002020.2:c.-290T>C;NM_025215.5:c.-622T>C 133445663 78310719 ENSSNP10705311 1.89e-01 2009.05.12 2009.05.14 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413646T>C;NG_013039.1:g.4902T>C;NM_001002019.2:c.-314T>C;NM_001002020.2:c.-290T>C;NM_025215.5:c.-622T>C 463214703 78310719 20101123_snps_9381933_chr12_132413646 1.89e-01 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132413655T>C;NG_013039.1:g.4911T>C;NM_001002019.2:c.-305T>C;NM_001002020.2:c.-281T>C;NM_025215.5:c.-613T>C 133445666 75987361 ENSSNP10705312 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 ENSEMBL 80324 NC_000012.11:g.132413687G>A;NG_013039.1:g.4943G>A;NM_001002019.2:c.-273G>A;NM_001002020.2:c.-249G>A;NM_025215.5:c.-581G>A 133445669 75594148 ENSSNP10705313 2.47e-01 2009.05.12 2009.05.14 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132413687G>A;NG_013039.1:g.4943G>A;NM_001002019.2:c.-273G>A;NM_001002020.2:c.-249G>A;NM_025215.5:c.-581G>A 208444264 75594148 BCM_CMT_1011-2443039 2.47e-01 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413687G>A;NG_013039.1:g.4943G>A;NM_001002019.2:c.-273G>A;NM_001002020.2:c.-249G>A;NM_025215.5:c.-581G>A 236151401 75594148 pilot_1_CEU_5756030_chr12_130979640 2.47e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 80324 NC_000012.11:g.132413687G>A;NG_013039.1:g.4943G>A;NM_001002019.2:c.-273G>A;NM_001002020.2:c.-249G>A;NM_025215.5:c.-581G>A 281611125 75594148 GMI_AK_SNP_5931514 2.47e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132413710C>G;NG_013039.1:g.4966C>G;NM_001002019.2:c.-250C>G;NM_001002020.2:c.-226C>G;NM_025215.5:c.-558C>G 18977217 12369083 SC-CHR9-12_NA07340-200402.chr12.NT_035243.4_383496 2.56e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132413710C>G;NG_013039.1:g.4966C>G;NM_001002019.2:c.-250C>G;NM_001002020.2:c.-226C>G;NM_025215.5:c.-558C>G 133445673 12369083 ENSSNP10705314 2.56e-01 2009.05.12 2009.05.14 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132413710C>G;NG_013039.1:g.4966C>G;NM_001002019.2:c.-250C>G;NM_001002020.2:c.-226C>G;NM_025215.5:c.-558C>G 208412790 12369083 BCM_CMT_1011-2432437 2.56e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413710C>G;NG_013039.1:g.4966C>G;NM_001002019.2:c.-250C>G;NM_001002020.2:c.-226C>G;NM_025215.5:c.-558C>G 236151402 12369083 pilot_1_CEU_5756031_chr12_130979663 2.56e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132413710C>G;NG_013039.1:g.4966C>G;NM_001002019.2:c.-250C>G;NM_001002020.2:c.-226C>G;NM_025215.5:c.-558C>G 281611126 12369083 GMI_AK_SNP_5931515 2.56e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 18761038 12307678 SC-CHR9-12_NA17119-200402.chr12.NT_035243.4_383505 4.85e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 20948992 12307678 WGSA-200403-chr12.chr12.NT_035243.4_383505 4.85e-01 2004.03.19 2004.03.19 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 74967261 12307678 ILMN_Human_1M_rs12307678 4.85e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HGSV 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 83607916 12307678 Cor18956_SNV_20070510.chr12_131079949 4.85e-01 2007.12.05 2007.12.05 2004.02.28 2012.11.28 137 HGSV 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 84064032 12307678 Cor19240_SNV_20070510.chr12_131079949 4.85e-01 2007.12.06 2007.12.06 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 97265581 12307678 1103649579655 4.85e-01 2008.03.28 2008.03.28 2004.02.28 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 119768838 12307678 KHS1839312 4.85e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 142487190 12307678 ENSSNP4634224 4.85e-01 2009.06.05 2009.10.16 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 158081506 12307678 GMI_SNP_114780895 4.85e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 160049039 12307678 HumanOmni1-Quad_v1-0_B_rs12307678-128_T_R_1513923754 4.85e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 171995075 12307678 Human1M-Duov3_B_rs12307678-121_T_R_1513923754 4.85e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 208333095 12307678 BCM_CMT_1011-2405478 4.85e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 226048919 12307678 pilot_1_YRI_7858602_chr12_130979672 4.85e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 236151403 12307678 pilot_1_CEU_5756032_chr12_130979672 4.85e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 281611127 12307678 GMI_AK_SNP_5931516 4.85e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 291375310 12307678 SNP_881668_chr12_130979672 4.85e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 479712561 12307678 HumanOmni2.5-4v1_B_rs12307678-128_T_R_1513923754 4.85e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 479718515 12307678 HumanOmniExpress-12v1_C_rs12307678-131_T_R_1857404198 4.85e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 480261603 12307678 HumanOmni1-Quad_v1-0_C_rs12307678-131_T_R_1857404198 4.85e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132413719C>T;NG_013039.1:g.4975C>T;NM_001002019.2:c.-241C>T;NM_001002020.2:c.-217C>T;NM_025215.5:c.-549C>T 484654748 12307678 HumanOmni2.5-4v1_D_rs12307678-131_T_R_1857404198 4.85e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 89487594 61942438 JWB-2839739 1.18e-01 2008.02.28 2008.02.28 2008.03.24 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 119802661 61942438 NA18507_000164981_NCBI36.1_chr12_130980039 1.18e-01 2009.02.05 2009.02.05 2008.03.24 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 133445675 61942438 ENSSNP10705315 1.18e-01 2009.05.12 2009.05.14 2008.03.24 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 226048920 61942438 pilot_1_YRI_7858603_chr12_130980039 1.18e-01 2010.04.22 2010.04.22 2008.03.24 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 236151404 61942438 pilot_1_CEU_5756033_chr12_130980039 1.18e-01 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 242667684 61942438 pilot_1_CHB+JPT_4552761_chr12_130980039 1.18e-01 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 479577243 61942438 HumanOmni2.5-4v1_D_kgp11140594-0_B_F_1804608188 1.18e-01 2012.01.30 2012.01.30 2008.03.24 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414086C>T;NG_013039.1:g.5342C>T;NM_001002019.2:c.-11+137C>T;NM_001002020.2:c.-11+161C>T;NM_025215.5:c.-182C>T 483025967 61942438 HumanOmni2.5-4v1_B_SNP12-130980039-0_B_F_1643305377 1.18e-01 2012.02.02 2012.02.02 2008.03.24 2012.11.28 137 PJP 80324 NC_000012.11:g.132414107G>A;NG_013039.1:g.5363G>A;NM_001002019.2:c.-11+158G>A;NM_001002020.2:c.-11+182G>A;NM_025215.5:c.-161G>A 291375311 143038324 SNP_881669_chr12_130980060 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132414273C>A;NG_013039.1:g.5529C>A;NM_001002019.2:c.-10-179C>A;NM_001002020.2:c.-10-179C>A;NM_025215.5:c.6C>A;NP_079491.2:p.Gly2= 342371516 150826376 ESP2500-chr12-132414273 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132414289C>T;NG_013039.1:g.5545C>T;NM_001002019.2:c.-10-163C>T;NM_001002020.2:c.-10-163C>T;NM_025215.5:c.22C>T;NP_079491.2:p.Leu8= 342371517 139227671 ESP2500-chr12-132414289 3.20e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414289C>T;NG_013039.1:g.5545C>T;NM_001002019.2:c.-10-163C>T;NM_001002020.2:c.-10-163C>T;NM_025215.5:c.22C>T;NP_079491.2:p.Leu8= 489011179 139227671 20110521_exome_180737_chr12_132414289 3.20e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132414290T>C;NG_013039.1:g.5546T>C;NM_001002019.2:c.-10-162T>C;NM_001002020.2:c.-10-162T>C;NM_025215.5:c.23T>C;NP_079491.2:p.Leu8Pro 342371518 144200090 ESP2500-chr12-132414290 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132414308G>A;NG_013039.1:g.5564G>A;NM_001002019.2:c.-10-144G>A;NM_001002020.2:c.-10-144G>A;NM_025215.5:c.41G>A;NP_079491.2:p.Arg14Gln 342371519 146103500 ESP2500-chr12-132414308 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132414349C>T;NG_013039.1:g.5605C>T;NM_001002019.2:c.-10-103C>T;NM_001002020.2:c.-10-103C>T;NM_025215.5:c.74+8C>T 489011181 200495537 20110521_exome_180738_chr12_132414349 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414375C>G;NG_013039.1:g.5631C>G;NM_001002019.2:c.-10-77C>G;NM_001002020.2:c.-10-77C>G;NM_025215.5:c.74+34C>G 463214704 187278496 20101123_snps_9381934_chr12_132414375 3.30e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414375C>G;NG_013039.1:g.5631C>G;NM_001002019.2:c.-10-77C>G;NM_001002020.2:c.-10-77C>G;NM_025215.5:c.74+34C>G 491055601 187278496 20110521_exome_563399_chr12_132414375 3.30e-02 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414493G>A;NG_013039.1:g.5749G>A;NM_001002019.2:c.32G>A;NM_001002020.2:c.32G>A;NM_025215.5:c.116G>A;NP_001002019.1:p.Gly11Glu;NP_001002020.1:p.Gly11Glu;NP_079491.2:p.Gly39Glu 489011183 199950927 20110521_exome_180739_chr12_132414493 5.00e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132414584C>G;NG_013039.1:g.5840C>G;NM_001002019.2:c.123C>G;NM_001002020.2:c.123C>G;NM_025215.5:c.207C>G;NP_001002019.1:p.Leu41=;NP_001002020.1:p.Leu41=;NP_079491.2:p.Leu69= 342371520 140067992 ESP2500-chr12-132414584 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132414592G>A;NG_013039.1:g.5848G>A;NM_001002019.2:c.131G>A;NM_001002020.2:c.131G>A;NM_025215.5:c.215G>A;NP_001002019.1:p.Gly44Asp;NP_001002020.1:p.Gly44Asp;NP_079491.2:p.Gly72Asp 489011185 201886236 20110521_exome_180740_chr12_132414592 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CGAP-GAI 80324 NC_000012.11:g.132414607G>T;NG_013039.1:g.5863G>T;NM_001002019.2:c.146G>T;NM_001002020.2:c.146G>T;NM_025215.5:c.230G>T;NP_001002019.1:p.Arg49Leu;NP_001002020.1:p.Arg49Leu;NP_079491.2:p.Arg77Leu 16257486 11554175 1515062 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132414664G>A;NG_013039.1:g.5920G>A;NM_001002019.2:c.203G>A;NM_001002020.2:c.203G>A;NM_025215.5:c.287G>A;NP_001002019.1:p.Gly68Asp;NP_001002020.1:p.Gly68Asp;NP_079491.2:p.Gly96Asp 342371521 143828069 ESP2500-chr12-132414664 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 SC_SNP 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 18515183 10902480 SC-CHR9-12_NA11321-200402.chr12.NT_035243.4_384555 2.49e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 18753213 10902480 SC-CHR9-12_NA17119-200402.chr12.NT_035243.4_384555 2.49e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 19236633 10902480 CSHL-HuDD-200402.chr12.NT_035243.4_384555 2.49e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 20890512 10902480 WGSA-200403-chr12.chr12.NT_035243.4_384555 2.49e-01 2004.03.19 2004.03.19 2004.02.27 2012.11.28 137 ABI 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 38969931 10902480 hCV11268472 2.49e-01 2005.07.16 2006.11.02 2004.02.27 2012.11.28 137 HGSV 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 77558990 10902480 Cor12156_SNV_20070510.chr12_131080999 2.49e-01 2007.10.13 2007.10.13 2004.02.27 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 89487599 10902480 JWB-0631278 2.49e-01 2008.02.28 2008.02.28 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 97265582 10902480 1103649579656 2.49e-01 2008.03.28 2008.03.28 2004.02.27 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 119802664 10902480 NA18507_000164982_NCBI36.1_chr12_130980722 2.49e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 137530589 10902480 ENSSNP698453 2.49e-01 2009.05.16 2009.10.15 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 158081510 10902480 GMI_SNP_233827354 2.49e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 159936278 10902480 HumanOmni1-Quad_v1-0_B_rs10902480-128_T_R_1572947412 2.49e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 168799336 10902480 NA07022_36_chr12_130980722 2.49e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 175316037 10902480 NA20431_36_chr12_130980722 2.49e-01 2009.10.05 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 198895492 10902480 BUSHMAN-chr12-130980721 2.49e-01 2010.03.06 2010.03.06 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 208378617 10902480 BCM_CMT_1011-2420976 2.49e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 226048921 10902480 pilot_1_YRI_7858604_chr12_130980722 2.49e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 236151405 10902480 pilot_1_CEU_5756034_chr12_130980722 2.49e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 242667685 10902480 pilot_1_CHB+JPT_4552762_chr12_130980722 2.49e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 255400693 10902480 SNP145208_12_130980722 2.49e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 281611128 10902480 GMI_AK_SNP_5931517 2.49e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 291375312 10902480 SNP_881670_chr12_130980722 2.49e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414769G>T;NG_013039.1:g.6025G>T;NM_001002019.2:c.219+89G>T;NM_001002020.2:c.219+89G>T;NM_025215.5:c.303+89G>T 479811150 10902480 HumanOmni1-Quad_v1-0_C_rs10902480-131_T_R_1863259434 2.49e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414903C>G;NG_013039.1:g.6159C>G;NM_001002019.2:c.219+223C>G;NM_001002020.2:c.219+223C>G;NM_025215.5:c.303+223C>G 463214705 190225061 20101123_snps_9381935_chr12_132414903 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132414926G>A;NG_013039.1:g.6182G>A;NM_001002019.2:c.219+246G>A;NM_001002020.2:c.219+246G>A;NM_025215.5:c.303+246G>A 463214706 182483444 20101123_snps_9381936_chr12_132414926 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132414930C>T;NG_013039.1:g.6186C>T;NM_001002019.2:c.219+250C>T;NM_001002020.2:c.219+250C>T;NM_025215.5:c.303+250C>T 463214707 188034384 20101123_snps_9381937_chr12_132414930 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132414986A>G;NG_013039.1:g.6242A>G;NM_001002019.2:c.219+306A>G;NM_001002020.2:c.219+306A>G;NM_025215.5:c.303+306A>G 211365279 115886447 YRI.trio.3.2010_1143045_chr12_130980939 1.56e-02 2010.03.30 2010.03.30 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414986A>G;NG_013039.1:g.6242A>G;NM_001002019.2:c.219+306A>G;NM_001002020.2:c.219+306A>G;NM_025215.5:c.303+306A>G 226048922 115886447 pilot_1_YRI_7858605_chr12_130980939 1.56e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414986A>G;NG_013039.1:g.6242A>G;NM_001002019.2:c.219+306A>G;NM_001002020.2:c.219+306A>G;NM_025215.5:c.303+306A>G 481823130 115886447 HumanOmni2.5-4v1_D_kgp19144948-0_T_F_1830933743 1.56e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132414986A>G;NG_013039.1:g.6242A>G;NM_001002019.2:c.219+306A>G;NM_001002020.2:c.219+306A>G;NM_025215.5:c.303+306A>G 483025970 115886447 HumanOmni2.5-4v1_B_SNP12-130980939-0_T_F_1637031813 1.56e-02 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132414999G>A;NG_013039.1:g.6255G>A;NM_001002019.2:c.219+319G>A;NM_001002020.2:c.219+319G>A;NM_025215.5:c.303+319G>A 337720933 147711131 20100804_snps_9364474_chr12_132414999 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132415037G>A;NG_013039.1:g.6293G>A;NM_001002019.2:c.219+357G>A;NM_001002020.2:c.219+357G>A;NM_025215.5:c.303+357G>A 198895497 113596841 BUSHMAN-chr12-130980989 2.30e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415037G>A;NG_013039.1:g.6293G>A;NM_001002019.2:c.219+357G>A;NM_001002020.2:c.219+357G>A;NM_025215.5:c.303+357G>A 463214708 113596841 20101123_snps_9381938_chr12_132415037 2.30e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415188G>C;NG_013039.1:g.6444G>C;NM_001002019.2:c.219+508G>C;NM_001002020.2:c.219+508G>C;NM_025215.5:c.303+508G>C 242667686 80100905 pilot_1_CHB+JPT_4552763_chr12_130981141 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132415200T>C;NG_013039.1:g.6456T>C;NM_001002019.2:c.219+520T>C;NM_001002020.2:c.219+520T>C;NM_025215.5:c.303+520T>C 337720934 142561884 20100804_snps_9364475_chr12_132415200 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132415445C>T;NG_013039.1:g.6701C>T;NM_001002019.2:c.219+765C>T;NM_001002020.2:c.219+765C>T;NM_025215.5:c.303+765C>T 13610016 9788158 chr12.NT_035243.4_385231 5.27e-02 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 HGSV 80324 NC_000012.11:g.132415445C>T;NG_013039.1:g.6701C>T;NM_001002019.2:c.219+765C>T;NM_001002020.2:c.219+765C>T;NM_025215.5:c.303+765C>T 85902715 9788158 Cor19129_SNV_20070510.chr12_131081675 5.27e-02 2007.12.10 2007.12.10 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415445C>T;NG_013039.1:g.6701C>T;NM_001002019.2:c.219+765C>T;NM_001002020.2:c.219+765C>T;NM_025215.5:c.303+765C>T 226048923 9788158 pilot_1_YRI_7858606_chr12_130981398 5.27e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415445C>T;NG_013039.1:g.6701C>T;NM_001002019.2:c.219+765C>T;NM_001002020.2:c.219+765C>T;NM_025215.5:c.303+765C>T 236151406 9788158 pilot_1_CEU_5756035_chr12_130981398 5.27e-02 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415556C>T;NG_013039.1:g.6812C>T;NM_001002019.2:c.219+876C>T;NM_001002020.2:c.219+876C>T;NM_025215.5:c.303+876C>T 226048924 115525081 pilot_1_YRI_7858607_chr12_130981509 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 13609897 9788099 chr12.NT_035243.4_385343 2.29e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 HGSV 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 78642906 9788099 Cor18507_SNV_20070510.chr12_131081787 2.29e-01 2007.10.20 2007.10.20 2003.12.05 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 89487603 9788099 JWB-0631279 2.29e-01 2008.02.28 2008.02.28 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 112566304 9788099 CEU.trio.12.15.2008_2843579_chr12_130981510 2.29e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 114328743 9788099 NA19240_2008_12_16_2558333_chr12_130981510 2.29e-01 2008.12.18 2008.12.18 2003.12.05 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 119802667 9788099 NA18507_000164983_NCBI36.1_chr12_130981510 2.29e-01 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 133445678 9788099 ENSSNP10705316 2.29e-01 2009.05.12 2009.05.14 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 171209284 9788099 NA19240_36_chr12_130981510 2.29e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 198895500 9788099 BUSHMAN-chr12-130981509 2.29e-01 2010.03.06 2010.03.06 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 226048925 9788099 pilot_1_YRI_7858608_chr12_130981510 2.29e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 236151407 9788099 pilot_1_CEU_5756036_chr12_130981510 2.29e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 242667687 9788099 pilot_1_CHB+JPT_4552764_chr12_130981510 2.29e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 GMI 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 281611129 9788099 GMI_AK_SNP_5931518 2.29e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 80324 NC_000012.11:g.132415557G>A;NG_013039.1:g.6813G>A;NM_001002019.2:c.219+877G>A;NM_001002020.2:c.219+877G>A;NM_025215.5:c.303+877G>A 291375313 9788099 SNP_881671_chr12_130981510 2.29e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132415582T>C;NG_013039.1:g.6838T>C;NM_001002019.2:c.219+902T>C;NM_001002020.2:c.219+902T>C;NM_025215.5:c.303+902T>C 463214709 184250873 20101123_snps_9381939_chr12_132415582 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132415616C>T;NG_013039.1:g.6872C>T;NM_001002019.2:c.219+936C>T;NM_001002020.2:c.219+936C>T;NM_025215.5:c.303+936C>T 463214710 188805048 20101123_snps_9381940_chr12_132415616 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 80324 NC_000012.11:g.132415720T>G;NG_013039.1:g.6976T>G;NM_001002019.2:c.220-1000T>G;NM_001002020.2:c.220-1000T>G;NM_025215.5:c.304-1000T>G 133445681 79869772 ENSSNP10705317 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132415742C>T;NG_013039.1:g.6998C>T;NM_001002019.2:c.220-978C>T;NM_001002020.2:c.220-978C>T;NM_025215.5:c.304-978C>T 463214711 193216618 20101123_snps_9381941_chr12_132415742 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 80324 NC_000012.11:g.132415773G>T;NG_013039.1:g.7029G>T;NM_001002019.2:c.220-947G>T;NM_001002020.2:c.220-947G>T;NM_025215.5:c.304-947G>T 81874669 57207698 Cor18956_SNV_20070510.chr12_131082003 2007.12.01 2007.12.01 2007.12.14 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132415941G>T;NG_013039.1:g.7197G>T;NM_001002019.2:c.220-779G>T;NM_001002020.2:c.220-779G>T;NM_025215.5:c.304-779G>T 226048926 115634555 pilot_1_YRI_7858609_chr12_130981894 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416065T>G;NG_013039.1:g.7321T>G;NM_001002019.2:c.220-655T>G;NM_001002020.2:c.220-655T>G;NM_025215.5:c.304-655T>G 337720935 144854420 20100804_snps_9364476_chr12_132416065 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416131C>T;NG_013039.1:g.7387C>T;NM_001002019.2:c.220-589C>T;NM_001002020.2:c.220-589C>T;NM_025215.5:c.304-589C>T 463214712 184608289 20101123_snps_9381942_chr12_132416131 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132416148G>A;NG_013039.1:g.7404G>A;NM_001002019.2:c.220-572G>A;NM_001002020.2:c.220-572G>A;NM_025215.5:c.304-572G>A 463214713 188984154 20101123_snps_9381943_chr12_132416148 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 80324 NC_000012.11:g.132416170G>A;NG_013039.1:g.7426G>A;NM_001002019.2:c.220-550G>A;NM_001002020.2:c.220-550G>A;NM_025215.5:c.304-550G>A 198895505 111903147 BUSHMAN-chr12-130982122 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416188T>C;NG_013039.1:g.7444T>C;NM_001002019.2:c.220-532T>C;NM_001002020.2:c.220-532T>C;NM_025215.5:c.304-532T>C 463214714 181384564 20101123_snps_9381944_chr12_132416188 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132416225G>A;NG_013039.1:g.7481G>A;NM_001002019.2:c.220-495G>A;NM_001002020.2:c.220-495G>A;NM_025215.5:c.304-495G>A 337720936 151322892 20100804_snps_9364477_chr12_132416225 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416316T>C;NG_013039.1:g.7572T>C;NM_001002019.2:c.220-404T>C;NM_001002020.2:c.220-404T>C;NM_025215.5:c.304-404T>C 463214715 184135791 20101123_snps_9381945_chr12_132416316 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132416398delT;NG_013039.1:g.7654delT;NM_001002019.2:c.220-322delT;NM_001002020.2:c.220-322delT;NM_025215.5:c.304-322delT 499906924 199628563 20110316_indels_chr12_132416397_132416397 1.56e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132416490_132416491insC;NG_013039.1:g.7746_7747insC;NM_001002019.2:c.220-230_220-229insC;NM_001002020.2:c.220-230_220-229insC;NM_025215.5:c.304-230_304-229insC 95612261 71076406 1104685318202 2008.03.22 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132416633C>T;NG_013039.1:g.7889C>T;NM_001002019.2:c.220-87C>T;NM_001002020.2:c.220-87C>T;NM_025215.5:c.304-87C>T 242667689 118123901 pilot_1_CHB+JPT_4552766_chr12_130982586 8.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416635G>A;NG_013039.1:g.7891G>A;NM_001002019.2:c.220-85G>A;NM_001002020.2:c.220-85G>A;NM_025215.5:c.304-85G>A 463214716 189640847 20101123_snps_9381946_chr12_132416635 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132416680T>A;NG_013039.1:g.7936T>A;NM_001002019.2:c.220-40T>A;NM_001002020.2:c.220-40T>A;NM_025215.5:c.304-40T>A 489011187 201146754 20110521_exome_180741_chr12_132416680 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132416761C>T;NG_013039.1:g.8017C>T;NM_001002019.2:c.261C>T;NM_001002020.2:c.261C>T;NM_025215.5:c.345C>T;NP_001002019.1:p.Asp87=;NP_001002020.1:p.Asp87=;NP_079491.2:p.Asp115= 342371522 145798848 ESP2500-chr12-132416761 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416761C>T;NG_013039.1:g.8017C>T;NM_001002019.2:c.261C>T;NM_001002020.2:c.261C>T;NM_025215.5:c.345C>T;NP_001002019.1:p.Asp87=;NP_001002020.1:p.Asp87=;NP_079491.2:p.Asp115= 489011189 145798848 20110521_exome_180742_chr12_132416761 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132416762T>C;NG_013039.1:g.8018T>C;NM_001002019.2:c.262T>C;NM_001002020.2:c.262T>C;NM_025215.5:c.346T>C;NP_001002019.1:p.Leu88=;NP_001002020.1:p.Leu88=;NP_079491.2:p.Leu116= 342371523 149011160 ESP2500-chr12-132416762 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GMI 80324 NC_000012.11:g.132416780C>A;NG_013039.1:g.8036C>A;NM_001002019.2:c.280C>A;NM_001002020.2:c.280C>A;NM_025215.5:c.364C>A;NP_001002019.1:p.Arg94=;NP_001002020.1:p.Arg94=;NP_079491.2:p.Arg122= 281611131 142954643 GMI_AK_SNP_5931520 1.01e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132416780C>A;NG_013039.1:g.8036C>A;NM_001002019.2:c.280C>A;NM_001002020.2:c.280C>A;NM_025215.5:c.364C>A;NP_001002019.1:p.Arg94=;NP_001002020.1:p.Arg94=;NP_079491.2:p.Arg122= 342371524 142954643 ESP2500-chr12-132416780 1.01e-02 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416780C>A;NG_013039.1:g.8036C>A;NM_001002019.2:c.280C>A;NM_001002020.2:c.280C>A;NM_025215.5:c.364C>A;NP_001002019.1:p.Arg94=;NP_001002020.1:p.Arg94=;NP_079491.2:p.Arg122= 463214717 142954643 20101123_snps_9381947_chr12_132416780 1.01e-02 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416780C>A;NG_013039.1:g.8036C>A;NM_001002019.2:c.280C>A;NM_001002020.2:c.280C>A;NM_025215.5:c.364C>A;NP_001002019.1:p.Arg94=;NP_001002020.1:p.Arg94=;NP_079491.2:p.Arg122= 491055602 142954643 20110521_exome_563400_chr12_132416780 1.01e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132416780C>A;NG_013039.1:g.8036C>A;NM_001002019.2:c.280C>A;NM_001002020.2:c.280C>A;NM_025215.5:c.364C>A;NP_001002019.1:p.Arg94=;NP_001002020.1:p.Arg94=;NP_079491.2:p.Arg122= 491675834 142954643 SNV-chr12-130982733 1.01e-02 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132416781G>A;NG_013039.1:g.8037G>A;NM_001002019.2:c.281G>A;NM_001002020.2:c.281G>A;NM_025215.5:c.365G>A;NP_001002019.1:p.Arg94Gln;NP_001002020.1:p.Arg94Gln;NP_079491.2:p.Arg122Gln 491476161 199863621 nonsyn_192387_chr_12_132416781 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 80324 NC_000012.11:g.132416804C>G;NG_013039.1:g.8060C>G;NM_001002019.2:c.304C>G;NM_001002020.2:c.304C>G;NM_025215.5:c.388C>G;NP_001002019.1:p.His102Asp;NP_001002020.1:p.His102Asp;NP_079491.2:p.His130Asp 489011191 201691654 20110521_exome_180743_chr12_132416804 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 161045177 76655496 HumanOmni1-Quad_v1-0_B_SNP12-130982766-128_T_F_1588003796 8.70e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 242667690 76655496 pilot_1_CHB+JPT_4552767_chr12_130982766 8.70e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 342371525 76655496 ESP2500-chr12-132416813 8.70e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 479449674 76655496 HumanOmni1-Quad_v1-0_C_kgp8610623-0_T_F_1804866485 8.70e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 483025974 76655496 HumanOmni2.5-4v1_B_SNP12-130982766-0_T_F_1624109513 8.70e-03 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 484121382 76655496 HumanOmni2.5-4v1_D_kgp8610623-0_T_F_1804866485 8.70e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 491055603 76655496 20110521_exome_563401_chr12_132416813 8.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 491476162 76655496 nonsyn_192388_chr_12_132416813 8.70e-03 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132416813G>A;NG_013039.1:g.8069G>A;NM_001002019.2:c.313G>A;NM_001002020.2:c.313G>A;NM_025215.5:c.397G>A;NP_001002019.1:p.Asp105Asn;NP_001002020.1:p.Asp105Asn;NP_079491.2:p.Asp133Asn 491675835 76655496 SNV-chr12-130982766 8.70e-03 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 GOLDSTEINLAB 80324 ARRAY(0xa0aad8f0) 507876021 76655496 12_130982766_A 8.70e-03 2012.04.06 2012.04.06 2009.12.01 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132416837C>T;NG_013039.1:g.8093C>T;NM_001002019.2:c.337C>T;NM_001002020.2:c.337C>T;NM_025215.5:c.421C>T;NP_001002019.1:p.Arg113Cys;NP_001002020.1:p.Arg113Cys;NP_079491.2:p.Arg141Cys 342371526 141178477 ESP2500-chr12-132416837 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416837C>T;NG_013039.1:g.8093C>T;NM_001002019.2:c.337C>T;NM_001002020.2:c.337C>T;NM_025215.5:c.421C>T;NP_001002019.1:p.Arg113Cys;NP_001002020.1:p.Arg113Cys;NP_079491.2:p.Arg141Cys 489011193 141178477 20110521_exome_180744_chr12_132416837 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 OMICIA 80324 NC_000012.10:g.130982799C>T NC_000012.11:g.132416846C>T;NG_013039.1:g.8102C>T;NM_001002019.2:c.346C>T;NM_001002020.2:c.346C>T;NM_025215.5:c.430C>T;NP_001002019.1:p.Arg116Trp;NP_001002020.1:p.Arg116Trp;NP_079491.2:p.Arg144Trp 244239172 104894371 2010_April_001_110_PUS1_608109_0001 germline probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 80324 NP_001002020.1:p.ARG116TRP NC_000012.11:g.132416846C>T;NG_013039.1:g.8102C>T;NM_001002019.2:c.346C>T;NM_001002020.2:c.346C>T;NM_025215.5:c.430C>T;NP_001002019.1:p.Arg116Trp;NP_001002020.1:p.Arg116Trp;NP_079491.2:p.Arg144Trp 253285659 104894371 15518 germline probable-pathogenic 2010.08.18 2010.08.18 2010.05.28 2012.09.29 137 NHLBI-ESP 80324 NC_000012.11:g.132416850C>T;NG_013039.1:g.8106C>T;NM_001002019.2:c.350C>T;NM_001002020.2:c.350C>T;NM_025215.5:c.434C>T;NP_001002019.1:p.Thr117Ile;NP_001002020.1:p.Thr117Ile;NP_079491.2:p.Thr145Ile 342371527 146929071 ESP2500-chr12-132416850 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 80324 NC_000012.11:g.132416851A>G;NG_013039.1:g.8107A>G;NM_001002019.2:c.351A>G;NM_001002020.2:c.351A>G;NM_025215.5:c.435A>G;NP_001002019.1:p.Thr117=;NP_001002020.1:p.Thr117=;NP_079491.2:p.Thr145= 198895508 111777451 BUSHMAN-chr12-130982803 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132416860G>A;NG_013039.1:g.8116G>A;NM_001002019.2:c.357+3G>A;NM_001002020.2:c.357+3G>A;NM_025215.5:c.441+3G>A 198895512 112532816 BUSHMAN-chr12-130982812 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132416887C>T;NG_013039.1:g.8143C>T;NM_001002019.2:c.357+30C>T;NM_001002020.2:c.357+30C>T;NM_025215.5:c.441+30C>T 489011195 200217196 20110521_exome_180745_chr12_132416887 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416965G>A;NG_013039.1:g.8221G>A;NM_001002019.2:c.357+108G>A;NM_001002020.2:c.357+108G>A;NM_025215.5:c.441+108G>A 481755489 201240699 HumanOmni2.5-4v1_D_kgp18888320-0_T_F_1829420549 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416965G>A;NG_013039.1:g.8221G>A;NM_001002019.2:c.357+108G>A;NM_001002020.2:c.357+108G>A;NM_025215.5:c.441+108G>A 483025977 201240699 HumanOmni2.5-4v1_B_SNP12-130982918-0_T_F_1638588010 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132416967A>G;NG_013039.1:g.8223A>G;NM_001002019.2:c.357+110A>G;NM_001002020.2:c.357+110A>G;NM_025215.5:c.441+110A>G 226048928 114910568 pilot_1_YRI_7858611_chr12_130982920 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416967A>G;NG_013039.1:g.8223A>G;NM_001002019.2:c.357+110A>G;NM_001002020.2:c.357+110A>G;NM_025215.5:c.441+110A>G 481712793 114910568 HumanOmni2.5-4v1_D_kgp18725790-0_B_R_1829095497 2.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132416967A>G;NG_013039.1:g.8223A>G;NM_001002019.2:c.357+110A>G;NM_001002020.2:c.357+110A>G;NM_025215.5:c.441+110A>G 483025980 114910568 HumanOmni2.5-4v1_B_SNP12-130982920-0_B_R_1639167665 2.70e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417091C>G;NG_013039.1:g.8347C>G;NM_001002019.2:c.357+234C>G;NM_001002020.2:c.357+234C>G;NM_025215.5:c.441+234C>G 337720937 140645028 20100804_snps_9364478_chr12_132417091 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132417172A>G;NG_013039.1:g.8428A>G;NM_001002019.2:c.357+315A>G;NM_001002020.2:c.357+315A>G;NM_025215.5:c.441+315A>G 337720938 150402079 20100804_snps_9364479_chr12_132417172 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132417246_132417247insTCTT;NG_013039.1:g.8502_8503insTCTT;NM_001002019.2:c.357+389_357+390insTCTT;NM_001002020.2:c.357+389_357+390insTCTT;NM_025215.5:c.441+389_441+390insTCTT 193306813 113445540 BUSHMAN-chr12-130983199-130983199 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 BUSHMAN 80324 NC_000012.11:g.132417373G>A;NG_013039.1:g.8629G>A;NM_001002019.2:c.357+516G>A;NM_001002020.2:c.357+516G>A;NM_025215.5:c.441+516G>A 198895516 111307739 BUSHMAN-chr12-130983325 1.80e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417373G>A;NG_013039.1:g.8629G>A;NM_001002019.2:c.357+516G>A;NM_001002020.2:c.357+516G>A;NM_025215.5:c.441+516G>A 337720939 111307739 20100804_snps_9364480_chr12_132417373 1.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132417387A>G;NG_013039.1:g.8643A>G;NM_001002019.2:c.357+530A>G;NM_001002020.2:c.357+530A>G;NM_025215.5:c.441+530A>G 198895519 111645841 BUSHMAN-chr12-130983339 1.33e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417387A>G;NG_013039.1:g.8643A>G;NM_001002019.2:c.357+530A>G;NM_001002020.2:c.357+530A>G;NM_025215.5:c.441+530A>G 226048929 111645841 pilot_1_YRI_7858612_chr12_130983340 1.33e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417391G>A;NG_013039.1:g.8647G>A;NM_001002019.2:c.357+534G>A;NM_001002020.2:c.357+534G>A;NM_025215.5:c.441+534G>A 463214718 185952619 20101123_snps_9381948_chr12_132417391 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 80324 NC_000012.11:g.132417410T>G;NG_013039.1:g.8666T>G;NM_001002019.2:c.357+553T>G;NM_001002020.2:c.357+553T>G;NM_025215.5:c.441+553T>G 198895525 111593623 BUSHMAN-chr12-130983362 1.80e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417410T>G;NG_013039.1:g.8666T>G;NM_001002019.2:c.357+553T>G;NM_001002020.2:c.357+553T>G;NM_025215.5:c.441+553T>G 337720940 111593623 20100804_snps_9364481_chr12_132417410 1.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132417439T>G;NG_013039.1:g.8695T>G;NM_001002019.2:c.357+582T>G;NM_001002020.2:c.357+582T>G;NM_025215.5:c.441+582T>G 198895528 111960406 BUSHMAN-chr12-130983391 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132417451G>A;NG_013039.1:g.8707G>A;NM_001002019.2:c.357+594G>A;NM_001002020.2:c.357+594G>A;NM_025215.5:c.441+594G>A 175316038 113696185 NA20431_36_chr12_130983404 6.68e-02 2009.10.05 2009.10.05 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417451G>A;NG_013039.1:g.8707G>A;NM_001002019.2:c.357+594G>A;NM_001002020.2:c.357+594G>A;NM_025215.5:c.441+594G>A 236151408 113696185 pilot_1_CEU_5756037_chr12_130983404 6.68e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132417505C>T;NG_013039.1:g.8761C>T;NM_001002019.2:c.357+648C>T;NM_001002020.2:c.357+648C>T;NM_025215.5:c.441+648C>T 463214719 192034683 20101123_snps_9381949_chr12_132417505 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132417609G>A;NG_013039.1:g.8865G>A;NM_001002019.2:c.357+752G>A;NM_001002020.2:c.357+752G>A;NM_025215.5:c.441+752G>A 463214720 181812565 20101123_snps_9381950_chr12_132417609 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132417613C>T;NG_013039.1:g.8869C>T;NM_001002019.2:c.357+756C>T;NM_001002020.2:c.357+756C>T;NM_025215.5:c.441+756C>T 463214721 186011708 20101123_snps_9381951_chr12_132417613 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 40151251 34546409 hCV32423025 2005.07.16 2005.07.16 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 95612262 34546409 1104685318201 2008.03.22 2008.12.03 2006.03.14 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 101238488 34546409 INDEL_GP36_2008a_1976286_0 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 101421800 34546409 INDEL_GP36_2008a_1521894_0 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 PJP 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 294783814 34546409 DIP_221518_chr12_130983694 2011.01.22 2011.01.22 2006.03.14 2012.11.28 137 PJP 80324 NC_000012.11:g.132417741delT;NG_013039.1:g.8997delT;NM_001002019.2:c.357+884delT;NM_001002020.2:c.357+884delT;NM_025215.5:c.441+884delT 294783815 34546409 DIP_221519_chr12_130983714 2011.01.22 2011.01.22 2006.03.14 2012.11.28 137 PJP 80324 NC_000012.11:g.132417767_132417768insG;NG_013039.1:g.9023_9024insG;NM_001002019.2:c.357+910_357+911insG;NM_001002020.2:c.357+910_357+911insG;NM_025215.5:c.441+910_441+911insG 294783816 146942895 DIP_221520_chr12_130983720 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132417842C>G;NG_013039.1:g.9098C>G;NM_001002019.2:c.357+985C>G;NM_001002020.2:c.357+985C>G;NM_025215.5:c.441+985C>G 242667691 117404516 pilot_1_CHB+JPT_4552768_chr12_130983795 8.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132417863C>T;NG_013039.1:g.9119C>T;NM_001002019.2:c.357+1006C>T;NM_001002020.2:c.357+1006C>T;NM_025215.5:c.441+1006C>T 463214722 190468500 20101123_snps_9381952_chr12_132417863 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132417961C>T;NG_013039.1:g.9217C>T;NM_001002019.2:c.357+1104C>T;NM_001002020.2:c.357+1104C>T;NM_025215.5:c.441+1104C>T 463214723 182708505 20101123_snps_9381953_chr12_132417961 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132418188C>T;NG_013039.1:g.9444C>T;NM_001002019.2:c.357+1331C>T;NM_001002020.2:c.357+1331C>T;NM_025215.5:c.441+1331C>T 463214724 186351996 20101123_snps_9381954_chr12_132418188 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132418267C>T;NG_013039.1:g.9523C>T;NM_001002019.2:c.357+1410C>T;NM_001002020.2:c.357+1410C>T;NM_025215.5:c.441+1410C>T 463214725 191255272 20101123_snps_9381955_chr12_132418267 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PJP 80324 NC_000012.11:g.132418302_132418303insG;NG_013039.1:g.9558_9559insG;NM_001002019.2:c.357+1445_357+1446insG;NM_001002020.2:c.357+1445_357+1446insG;NM_025215.5:c.441+1445_441+1446insG 294783817 145401747 DIP_221521_chr12_130984257 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 BL 80324 NC_000012.11:g.132418360C>T;NG_013039.1:g.9616C>T;NM_001002019.2:c.357+1503C>T;NM_001002020.2:c.357+1503C>T;NM_025215.5:c.441+1503C>T 255400696 138089070 SNP145209_12_130984313 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 PJP 80324 NC_000012.11:g.132418411_132418412insC;NG_013039.1:g.9667_9668insC;NM_001002019.2:c.357+1554_357+1555insC;NM_001002020.2:c.357+1554_357+1555insC;NM_025215.5:c.441+1554_441+1555insC 294783818 149220344 DIP_221522_chr12_130984365 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 CSHL-HAPMAP 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 19245817 12425240 CSHL-HuDD-200402.chr12.NT_035243.4_388207 8.79e-02 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ABI 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 40113435 12425240 hCV45992 8.79e-02 2005.07.16 2005.07.16 2004.02.28 2011.09.09 137 ILLUMINA 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 74970047 12425240 ILMN_Human_1M_rs12425240 8.79e-02 2007.08.29 2007.08.29 2004.02.28 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 114328747 12425240 NA19240_2008_12_16_2558334_chr12_130984374 8.79e-02 2008.12.18 2008.12.18 2004.02.28 2011.09.09 137 KRIBB_YJKIM 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 119779157 12425240 KHS1843042 8.79e-02 2009.02.05 2009.02.05 2004.02.28 2011.09.09 137 ILLUMINA-UK 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 119802669 12425240 NA18507_000164984_NCBI36.1_chr12_130984374 8.79e-02 2009.02.05 2009.02.05 2004.02.28 2011.09.09 137 ENSEMBL 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 161500006 12425240 ENSSNP698454 8.79e-02 2009.09.25 2010.03.07 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 171209302 12425240 NA19240_36_chr12_130984374 8.79e-02 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 ILLUMINA 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 172067395 12425240 Human1M-Duov3_B_rs12425240-126_B_R_1513924083 8.79e-02 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 226048930 12425240 pilot_1_YRI_7858613_chr12_130984374 8.79e-02 2010.04.22 2010.04.22 2004.02.28 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418421G>A;NG_013039.1:g.9677G>A;NM_001002019.2:c.357+1564G>A;NM_001002020.2:c.357+1564G>A;NM_025215.5:c.441+1564G>A 236151409 12425240 pilot_1_CEU_5756038_chr12_130984374 8.79e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418423A>G;NG_013039.1:g.9679A>G;NM_001002019.2:c.357+1566A>G;NM_001002020.2:c.357+1566A>G;NM_025215.5:c.441+1566A>G 242667693 117223633 pilot_1_CHB+JPT_4552770_chr12_130984376 8.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418451G>A;NG_013039.1:g.9707G>A;NM_001002019.2:c.357+1594G>A;NM_001002020.2:c.357+1594G>A;NM_025215.5:c.441+1594G>A 337720941 145065784 20100804_snps_9364482_chr12_132418451 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418483A>T;NG_013039.1:g.9739A>T;NM_001002019.2:c.357+1626A>T;NM_001002020.2:c.357+1626A>T;NM_025215.5:c.441+1626A>T 242667694 80287264 pilot_1_CHB+JPT_4552771_chr12_130984436 2.30e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BUSHMAN 80324 NC_000012.11:g.132418498T>C;NG_013039.1:g.9754T>C;NM_001002019.2:c.357+1641T>C;NM_001002020.2:c.357+1641T>C;NM_025215.5:c.441+1641T>C 198895531 113480759 BUSHMAN-chr12-130984450 1.28e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418498T>C;NG_013039.1:g.9754T>C;NM_001002019.2:c.357+1641T>C;NM_001002020.2:c.357+1641T>C;NM_025215.5:c.441+1641T>C 226048931 113480759 pilot_1_YRI_7858614_chr12_130984451 1.28e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418581G>A;NG_013039.1:g.9837G>A;NM_001002019.2:c.357+1724G>A;NM_001002020.2:c.357+1724G>A;NM_025215.5:c.441+1724G>A 463214726 182623642 20101123_snps_9381956_chr12_132418581 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 80324 NC_000012.11:g.132418642_132418643insT;NG_013039.1:g.9898_9899insT;NM_001002019.2:c.357+1785_357+1786insT;NM_001002020.2:c.357+1785_357+1786insT;NM_025215.5:c.441+1785_441+1786insT 80810067 59052126 Cor12878_DIV_20070510.chr12_131084874-131084875_1 2007.11.26 2007.11.26 2007.12.15 2011.07.08 137 GMI 80324 NC_000012.11:g.132418648A>G;NG_013039.1:g.9904A>G;NM_001002019.2:c.357+1791A>G;NM_001002020.2:c.357+1791A>G;NM_025215.5:c.441+1791A>G 281611135 142543940 GMI_AK_SNP_5931524 9.20e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418648A>G;NG_013039.1:g.9904A>G;NM_001002019.2:c.357+1791A>G;NM_001002020.2:c.357+1791A>G;NM_025215.5:c.441+1791A>G 337720943 142543940 20100804_snps_9364484_chr12_132418648 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418715G>C;NG_013039.1:g.9971G>C;NM_001002019.2:c.357+1858G>C;NM_001002020.2:c.357+1858G>C;NM_025215.5:c.441+1858G>C 337720944 144081085 20100804_snps_9364485_chr12_132418715 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418774C>T;NG_013039.1:g.10030C>T;NM_001002019.2:c.357+1917C>T;NM_001002020.2:c.357+1917C>T;NM_025215.5:c.441+1917C>T 226048932 115935443 pilot_1_YRI_7858615_chr12_130984727 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132418895G>A;NG_013039.1:g.10151G>A;NM_001002019.2:c.357+2038G>A;NM_001002020.2:c.357+2038G>A;NM_025215.5:c.441+2038G>A 337720945 148271339 20100804_snps_9364486_chr12_132418895 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132418902C>T;NG_013039.1:g.10158C>T;NM_001002019.2:c.357+2045C>T;NM_001002020.2:c.357+2045C>T;NM_025215.5:c.441+2045C>T 198895535 112543652 BUSHMAN-chr12-130984854 1.33e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418902C>T;NG_013039.1:g.10158C>T;NM_001002019.2:c.357+2045C>T;NM_001002020.2:c.357+2045C>T;NM_025215.5:c.441+2045C>T 226048933 112543652 pilot_1_YRI_7858616_chr12_130984855 1.33e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132418956C>T;NG_013039.1:g.10212C>T;NM_001002019.2:c.357+2099C>T;NM_001002020.2:c.357+2099C>T;NM_025215.5:c.441+2099C>T 463214727 187750804 20101123_snps_9381957_chr12_132418956 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132419123T>C;NG_013039.1:g.10379T>C;NM_001002019.2:c.357+2266T>C;NM_001002020.2:c.357+2266T>C;NM_025215.5:c.441+2266T>C 463214728 192603121 20101123_snps_9381958_chr12_132419123 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132419144A>G;NG_013039.1:g.10400A>G;NM_001002019.2:c.357+2287A>G;NM_001002020.2:c.357+2287A>G;NM_025215.5:c.441+2287A>G 226048934 116436596 pilot_1_YRI_7858617_chr12_130985097 1.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 12206467 7969545 chr12.NT_035243.4_388943 2.43e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 16011261 7969545 NT_035243.4_388943 2.43e-01 2003.11.18 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 17474821 7969545 CSHL-HuCC-200402.chr12.NT_035243.4_388943 2.43e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 20885302 7969545 WGSA-200403-chr12.chr12.NT_035243.4_388943 2.43e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 82107015 7969545 Cor18555_SNV_20070510.chr12_131085387 2.43e-01 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 89487606 7969545 JWB-0631280 2.43e-01 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 97265583 7969545 1103649579661 2.43e-01 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 103097610 7969545 BGI_rs7969545 2.43e-01 2008.06.05 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 112566308 7969545 CEU.trio.12.15.2008_2843580_chr12_130985110 2.43e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 114328757 7969545 NA19240_2008_12_16_2558335_chr12_130985110 2.43e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 119802672 7969545 NA18507_000164985_NCBI36.1_chr12_130985110 2.43e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 133445684 7969545 ENSSNP6933741 2.43e-01 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 137530586 7969545 ENSSNP698455 2.43e-01 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 158081517 7969545 GMI_SNP_146128547 2.43e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 171209313 7969545 NA19240_36_chr12_130985110 2.43e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 208245008 7969545 BCM_CMT_1011-2373787 2.43e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 226048935 7969545 pilot_1_YRI_7858618_chr12_130985110 2.43e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 236151410 7969545 pilot_1_CEU_5756039_chr12_130985110 2.43e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 242667695 7969545 pilot_1_CHB+JPT_4552772_chr12_130985110 2.43e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 255400697 7969545 SNP145210_12_130985110 2.43e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 281611136 7969545 GMI_AK_SNP_5931525 2.43e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132419157C>T;NG_013039.1:g.10413C>T;NM_001002019.2:c.357+2300C>T;NM_001002020.2:c.357+2300C>T;NM_025215.5:c.441+2300C>T 291375314 7969545 SNP_881672_chr12_130985110 2.43e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419201G>T;NG_013039.1:g.10457G>T;NM_001002019.2:c.357+2344G>T;NM_001002020.2:c.357+2344G>T;NM_025215.5:c.441+2344G>T 337720946 141348917 20100804_snps_9364487_chr12_132419201 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132419301G>A;NG_013039.1:g.10557G>A;NM_001002019.2:c.357+2444G>A;NM_001002020.2:c.357+2444G>A;NM_025215.5:c.441+2444G>A 463214729 183317148 20101123_snps_9381959_chr12_132419301 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132419322G>T;NG_013039.1:g.10578G>T;NM_001002019.2:c.357+2465G>T;NM_001002020.2:c.357+2465G>T;NM_025215.5:c.441+2465G>T 337720947 150707630 20100804_snps_9364488_chr12_132419322 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132419409A>G;NG_013039.1:g.10665A>G;NM_001002019.2:c.357+2552A>G;NM_001002020.2:c.357+2552A>G;NM_025215.5:c.441+2552A>G 463214730 187647573 20101123_snps_9381960_chr12_132419409 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132419485delA;NG_013039.1:g.10741delA;NM_001002019.2:c.357+2628delA;NM_001002020.2:c.357+2628delA;NM_025215.5:c.441+2628delA 327498399 149426481 JPTCHB_chr12_130985437_indel 8.70e-03 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419485delA;NG_013039.1:g.10741delA;NM_001002019.2:c.357+2628delA;NM_001002020.2:c.357+2628delA;NM_025215.5:c.441+2628delA 499906928 149426481 20110316_indels_chr12_132419484_132419484 8.70e-03 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 15942607 10794448 NT_035243.4_389294 4.84e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 16600531 10794448 CSHL-HuAA-200402.chr12.NT_035243.4_389294 4.84e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 18547349 10794448 SC-CHR9-12_NA11321-200402.chr12.NT_035243.4_389294 4.84e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 19003322 10794448 SC-CHR9-12_NA07340-200402.chr12.NT_035243.4_389294 4.84e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 83533575 10794448 Cor18956_SNV_20070510.chr12_131085738 4.84e-01 2007.12.05 2007.12.05 2004.02.27 2012.11.28 137 HGSV 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 84004339 10794448 Cor19240_SNV_20070510.chr12_131085738 4.84e-01 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 97265584 10794448 1103649579662 4.84e-01 2008.03.28 2008.03.28 2004.02.27 2012.11.28 137 BGI 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 103097611 10794448 BGI_rs10794448 4.84e-01 2008.06.05 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 112566312 10794448 CEU.trio.12.15.2008_2843581_chr12_130985461 4.84e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 114328766 10794448 NA19240_2008_12_16_2558336_chr12_130985461 4.84e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 137530584 10794448 ENSSNP698456 4.84e-01 2009.05.16 2009.10.15 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 158081524 10794448 GMI_SNP_68833147 4.84e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 159921785 10794448 HumanOmni1-Quad_v1-0_B_rs10794448-128_B_F_1579683589 4.84e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 168799339 10794448 NA07022_36_chr12_130985461 4.84e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 171209319 10794448 NA19240_36_chr12_130985461 4.84e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 175316040 10794448 NA20431_36_chr12_130985461 4.84e-01 2009.10.05 2009.10.05 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 208234831 10794448 BCM_CMT_1011-2370060 4.84e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 226048937 10794448 pilot_1_YRI_7858620_chr12_130985461 4.84e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 236151411 10794448 pilot_1_CEU_5756040_chr12_130985461 4.84e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 242667696 10794448 pilot_1_CHB+JPT_4552773_chr12_130985461 4.84e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 255400700 10794448 SNP145211_12_130985461 4.84e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 281611137 10794448 GMI_AK_SNP_5931526 4.84e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 291375315 10794448 SNP_881673_chr12_130985461 4.84e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419508A>T;NG_013039.1:g.10764A>T;NM_001002019.2:c.357+2651A>T;NM_001002020.2:c.357+2651A>T;NM_025215.5:c.441+2651A>T 479753130 10794448 HumanOmni1-Quad_v1-0_C_rs10794448-131_B_F_1863285096 4.84e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 6871772 4965006 NT_035243.2_93857 2.29e-01 2003.02.14 2006.10.25 2003.02.20 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 16278742 4965006 NT_035243.4_389319 2.29e-01 2003.11.18 2003.11.22 2003.02.20 2012.11.28 137 AFFY 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 66049259 4965006 SNP_A-1818122 2.29e-01 2006.10.27 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 66620761 4965006 HumanHap300v1.1_rs4965006 2.29e-01 2006.11.09 2006.11.09 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 67405740 4965006 HumanHap550v1.1_rs4965006 2.29e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 67772993 4965006 HumanHap650Yv1.0_rs4965006 2.29e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 PERLEGEN 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 69126280 4965006 PGP10920710 2.29e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 70839631 4965006 HumanHap550v3.0__rs4965006 2.29e-01 2007.04.20 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 71423339 4965006 HumanHap650Yv3.0_rs4965006 2.29e-01 2007.04.23 2007.04.23 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 75460669 4965006 ILMN_Human_1M_rs4965006 2.29e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 75952384 4965006 AFFY_6_1M_SNP_A-1818122 2.29e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 79204787 4965006 HumanHap300v2.0_rs4965006 2.29e-01 2007.11.18 2007.11.18 2003.02.20 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 84412917 4965006 KHS705101 2.29e-01 2007.12.07 2007.12.07 2003.02.20 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 89487611 4965006 JWB-0631281 2.29e-01 2008.02.28 2008.02.28 2003.02.20 2012.11.28 137 BGI 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 103097612 4965006 BGI_rs4965006 2.29e-01 2008.06.05 2009.06.17 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 122444632 4965006 HumanCNV370v1_C_rs4965006 2.29e-01 2009.04.15 2009.04.15 2003.02.20 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 133445687 4965006 ENSSNP10705319 2.29e-01 2009.05.12 2009.05.14 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 154332801 4965006 Human610_Quadv1_B_rs4965006-127_B_R_1501784563 2.29e-01 2009.06.20 2009.06.20 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 158081530 4965006 GMI_SNP_68888632 2.29e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 159509282 4965006 Human660W-Quad_v1_A_rs4965006-128_B_R_1501784563 2.29e-01 2009.07.07 2009.07.07 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 160733373 4965006 HumanOmni1-Quad_v1-0_B_rs4965006-128_B_R_1501784563 2.29e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 AFFY 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 169597086 4965006 GenomeWideSNP_5_SNP_A-1818122 2.29e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 171997389 4965006 HumanCNV370-Quadv3_C_rs4965006-127_B_R_1501784563 2.29e-01 2009.10.01 2009.10.04 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 173894582 4965006 Human1M-Duov3_B_rs4965006-127_B_R_1501784563 2.29e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 226048938 4965006 pilot_1_YRI_7858621_chr12_130985486 2.29e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 236151412 4965006 pilot_1_CEU_5756041_chr12_130985486 2.29e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 242667697 4965006 pilot_1_CHB+JPT_4552774_chr12_130985486 2.29e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 281611138 4965006 GMI_AK_SNP_5931527 2.29e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 291375316 4965006 SNP_881674_chr12_130985486 2.29e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 481118267 4965006 HumanOmni2.5-4v1_B_rs4965006-128_B_R_1771551559 2.29e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 481140343 4965006 HumanOmniExpress-12v1_C_rs4965006-131_B_R_1857736167 2.29e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 482129817 4965006 HumanOmni1-Quad_v1-0_C_rs4965006-131_B_R_1865630889 2.29e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132419533C>T;NG_013039.1:g.10789C>T;NM_001002019.2:c.357+2676C>T;NM_001002020.2:c.357+2676C>T;NM_025215.5:c.441+2676C>T 485354211 4965006 HumanOmni2.5-4v1_D_rs4965006-131_B_R_1857736167 2.29e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419543_132419544insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NG_013039.1:g.10799_10800insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002019.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002020.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_025215.5:c.441+2686_441+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT 94676000 62719760 INDEL_GP36_2008a_205182_1 2008.03.07 2008.05.18 2008.05.23 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419543_132419544insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NG_013039.1:g.10799_10800insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002019.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002020.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_025215.5:c.441+2686_441+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT 94676002 62719760 INDEL_GP36_2008a_205182_2 2008.03.07 2008.05.18 2008.05.23 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419543_132419544insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NG_013039.1:g.10799_10800insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002019.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002020.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_025215.5:c.441+2686_441+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT 94676004 62719760 INDEL_GP36_2008a_205182_3 2008.03.07 2008.05.18 2008.05.23 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419543_132419544insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NG_013039.1:g.10799_10800insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002019.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002020.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_025215.5:c.441+2686_441+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT 94676007 62719760 INDEL_GP36_2008a_205182_4 2008.03.07 2008.05.18 2008.05.23 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419543_132419544insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NG_013039.1:g.10799_10800insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002019.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_001002020.2:c.357+2686_357+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT;NM_025215.5:c.441+2686_441+2687insGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT 99771352 62719760 INDEL_GP36_2007a_205182_0 2008.05.06 2008.05.06 2008.05.23 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132419749_132419750insAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGTG;NG_013039.1:g.11005_11006insAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGTG;NM_001002019.2:c.357+2892_357+2893insAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGTG;NM_001002020.2:c.357+2892_357+2893insAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGTG;NM_025215.5:c.441+2892_441+2893insAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGTG 99414462 71672371 INDEL_GP36_2007a_204718_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132419749G>C;NG_013039.1:g.11005G>C;NM_001002019.2:c.357+2892G>C;NM_001002020.2:c.357+2892G>C;NM_025215.5:c.441+2892G>C 337720948 139469594 20100804_snps_9364489_chr12_132419749 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 13609704 9787985 chr12.NT_035243.4_389789 6.00e-03 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 16278743 9787985 NT_035243.4_389789 6.00e-03 2003.11.18 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 16560278 9787985 CSHL-HuAA-200402.chr12.NT_035243.4_389789 6.00e-03 2004.02.17 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 19227385 9787985 CSHL-HuDD-200402.chr12.NT_035243.4_389789 6.00e-03 2004.02.20 2004.03.04 2003.12.05 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 20874941 9787985 WGSA-200403-chr12.chr12.NT_035243.4_389789 6.00e-03 2004.03.19 2004.03.19 2003.12.05 2012.11.28 137 HGSV 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 80576382 9787985 Cor18507_SNV_20070510.chr12_131086233 6.00e-03 2007.11.26 2007.11.26 2003.12.05 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 89487612 9787985 JWB-0631282 6.00e-03 2008.02.28 2008.02.28 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 97265585 9787985 1103649579663 6.00e-03 2008.03.28 2008.03.28 2003.12.05 2012.11.28 137 BGI 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 105143383 9787985 BGI_rs9787985 6.00e-03 2008.08.06 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 112566316 9787985 CEU.trio.12.15.2008_2843582_chr12_130985956 6.00e-03 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 114328774 9787985 NA19240_2008_12_16_2558337_chr12_130985956 6.00e-03 2008.12.18 2008.12.18 2003.12.05 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 119802675 9787985 NA18507_000164986_NCBI36.1_chr12_130985956 6.00e-03 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 133445690 9787985 ENSSNP7149066 6.00e-03 2009.05.12 2009.05.14 2003.12.05 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 143653005 9787985 ENSSNP4233224 6.00e-03 2009.06.06 2009.10.19 2003.12.05 2012.11.28 137 GMI 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 158081536 9787985 GMI_SNP_31082466 6.00e-03 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 168799340 9787985 NA07022_36_chr12_130985956 6.00e-03 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 171209328 9787985 NA19240_36_chr12_130985956 6.00e-03 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 175316043 9787985 NA20431_36_chr12_130985956 6.00e-03 2009.10.05 2009.10.05 2003.12.05 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 198895541 9787985 BUSHMAN-chr12-130985955 6.00e-03 2010.03.06 2010.03.06 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 208115554 9787985 BCM_CMT_1011-2328965 6.00e-03 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 226048939 9787985 pilot_1_YRI_7858622_chr12_130985956 6.00e-03 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 236151413 9787985 pilot_1_CEU_5756042_chr12_130985956 6.00e-03 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 255400701 9787985 SNP145212_12_130985956 6.00e-03 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 281611139 9787985 GMI_AK_SNP_5931528 6.00e-03 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 80324 NC_000012.11:g.132420003T>G;NG_013039.1:g.11259T>G;NM_001002019.2:c.357+3146T>G;NM_001002020.2:c.357+3146T>G;NM_025215.5:c.441+3146T>G 291375317 9787985 SNP_881675_chr12_130985956 6.00e-03 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 16588228 11613559 CSHL-HuAA-200402.chr12.NT_035243.4_389795 4.83e-01 2004.02.17 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 20940462 11613559 WGSA-200403-chr12.chr12.NT_035243.4_389795 4.83e-01 2004.03.19 2004.03.19 2004.02.28 2012.11.28 137 ABI 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 38900733 11613559 hCV26016346 4.83e-01 2005.07.16 2005.07.16 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 97265586 11613559 1103649579664 4.83e-01 2008.03.28 2008.03.28 2004.02.28 2012.11.28 137 BGI 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 103097613 11613559 BGI_rs11613559 4.83e-01 2008.06.05 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 112566320 11613559 CEU.trio.12.15.2008_2843583_chr12_130985962 4.83e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 143555641 11613559 ENSSNP5266518 4.83e-01 2009.06.06 2009.10.17 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 168799344 11613559 NA07022_36_chr12_130985962 4.83e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 171209339 11613559 NA19240_36_chr12_130985962 4.83e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 175316045 11613559 NA20431_36_chr12_130985962 4.83e-01 2009.10.05 2009.10.05 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 208259846 11613559 BCM_CMT_1011-2379245 4.83e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 211365281 11613559 YRI.trio.3.2010_1143046_chr12_130985962 4.83e-01 2010.03.30 2010.03.30 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 226048940 11613559 pilot_1_YRI_7858623_chr12_130985962 4.83e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 236151414 11613559 pilot_1_CEU_5756043_chr12_130985962 4.83e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 242667698 11613559 pilot_1_CHB+JPT_4552775_chr12_130985962 4.83e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 255400704 11613559 SNP145213_12_130985962 4.83e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132420009G>A;NG_013039.1:g.11265G>A;NM_001002019.2:c.357+3152G>A;NM_001002020.2:c.357+3152G>A;NM_025215.5:c.441+3152G>A 281611140 11613559 GMI_AK_SNP_5931529 4.83e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420078T>G;NG_013039.1:g.11334T>G;NM_001002019.2:c.357+3221T>G;NM_001002020.2:c.357+3221T>G;NM_025215.5:c.441+3221T>G 337720949 145103347 20100804_snps_9364490_chr12_132420078 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 80324 NC_000012.11:g.132420101C>T;NG_013039.1:g.11357C>T;NM_001002019.2:c.357+3244C>T;NM_001002020.2:c.357+3244C>T;NM_025215.5:c.441+3244C>T 281611141 147161258 GMI_AK_SNP_5931530 8.70e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420101C>T;NG_013039.1:g.11357C>T;NM_001002019.2:c.357+3244C>T;NM_001002020.2:c.357+3244C>T;NM_025215.5:c.441+3244C>T 337720950 147161258 20100804_snps_9364491_chr12_132420101 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420134C>T;NG_013039.1:g.11390C>T;NM_001002019.2:c.357+3277C>T;NM_001002020.2:c.357+3277C>T;NM_025215.5:c.441+3277C>T 463214731 192139460 20101123_snps_9381961_chr12_132420134 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132420141G>A;NG_013039.1:g.11397G>A;NM_001002019.2:c.357+3284G>A;NM_001002020.2:c.357+3284G>A;NM_025215.5:c.441+3284G>A 337720951 140439216 20100804_snps_9364492_chr12_132420141 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 13610097 9788193 chr12.NT_035243.4_390015 2.98e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 16589924 9788193 CSHL-HuAA-200402.chr12.NT_035243.4_390015 2.98e-01 2004.02.17 2004.03.04 2003.12.05 2012.11.28 137 HGSV 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 80273441 9788193 Cor18507_SNV_20070510.chr12_131086459 2.98e-01 2007.11.25 2007.11.25 2003.12.05 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 89487617 9788193 JWB-0631283 2.98e-01 2008.02.28 2008.02.28 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 97265587 9788193 1103649579667 2.98e-01 2008.03.28 2008.03.28 2003.12.05 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 133445693 9788193 ENSSNP10705321 2.98e-01 2009.05.12 2009.05.14 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 168799346 9788193 NA07022_36_chr12_130986182 2.98e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 171209352 9788193 NA19240_36_chr12_130986182 2.98e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 175316047 9788193 NA20431_36_chr12_130986182 2.98e-01 2009.10.05 2009.10.05 2003.12.05 2012.11.28 137 BL 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 255400706 9788193 SNP145214_12_130986182 2.98e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 281611142 9788193 GMI_AK_SNP_5931531 2.98e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 291375318 9788193 SNP_881676_chr12_130986182 2.98e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420229T>C;NG_013039.1:g.11485T>C;NM_001002019.2:c.357+3372T>C;NM_001002020.2:c.357+3372T>C;NM_025215.5:c.441+3372T>C 337720952 9788193 20100804_snps_9364493_chr12_132420229 2.98e-01 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420303C>G;NG_013039.1:g.11559C>G;NM_001002019.2:c.358-3415C>G;NM_001002020.2:c.358-3415C>G;NM_025215.5:c.442-3415C>G 463214732 185123551 20101123_snps_9381962_chr12_132420303 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BL 80324 NC_000012.11:g.132420379A>G;NG_013039.1:g.11635A>G;NM_001002019.2:c.358-3339A>G;NM_001002020.2:c.358-3339A>G;NM_025215.5:c.442-3339A>G 255400708 148975037 SNP145215_12_130986332 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132420397T>C;NG_013039.1:g.11653T>C;NM_001002019.2:c.358-3321T>C;NM_001002020.2:c.358-3321T>C;NM_025215.5:c.442-3321T>C 463214733 189649978 20101123_snps_9381963_chr12_132420397 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 80324 NC_000012.11:g.132420404_132420411delTTCTGCTG;NG_013039.1:g.11660_11667delTTCTGCTG;NM_001002019.2:c.358-3314_358-3307delTTCTGCTG;NM_001002020.2:c.358-3314_358-3307delTTCTGCTG;NM_025215.5:c.442-3314_442-3307delTTCTGCTG 289161974 145330439 GMI_AK_INDEL_835500 2.52e-02 2010.12.28 2011.12.28 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420404_132420411delTTCTGCTG;NG_013039.1:g.11660_11667delTTCTGCTG;NM_001002019.2:c.358-3314_358-3307delTTCTGCTG;NM_001002020.2:c.358-3314_358-3307delTTCTGCTG;NM_025215.5:c.442-3314_442-3307delTTCTGCTG 327498402 145330439 JPTCHB_chr12_130986356_indel 2.52e-02 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420404_132420411delTTCTGCTG;NG_013039.1:g.11660_11667delTTCTGCTG;NM_001002019.2:c.358-3314_358-3307delTTCTGCTG;NM_001002020.2:c.358-3314_358-3307delTTCTGCTG;NM_025215.5:c.442-3314_442-3307delTTCTGCTG 499906931 145330439 20110316_indels_chr12_132420403_132420410 2.52e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132420440T>A;NG_013039.1:g.11696T>A;NM_001002019.2:c.358-3278T>A;NM_001002020.2:c.358-3278T>A;NM_025215.5:c.442-3278T>A 13610102 9788197 chr12.NT_035243.4_390226 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132420526C>T;NG_013039.1:g.11782C>T;NM_001002019.2:c.358-3192C>T;NM_001002020.2:c.358-3192C>T;NM_025215.5:c.442-3192C>T 463214734 192857695 20101123_snps_9381964_chr12_132420526 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132420790C>T;NG_013039.1:g.12046C>T;NM_001002019.2:c.358-2928C>T;NM_001002020.2:c.358-2928C>T;NM_025215.5:c.442-2928C>T 211365283 114339110 YRI.trio.3.2010_1143047_chr12_130986743 1.79e-02 2010.03.30 2010.03.30 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132420790C>T;NG_013039.1:g.12046C>T;NM_001002019.2:c.358-2928C>T;NM_001002020.2:c.358-2928C>T;NM_025215.5:c.442-2928C>T 226048941 114339110 pilot_1_YRI_7858624_chr12_130986743 1.79e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132420808A>G;NG_013039.1:g.12064A>G;NM_001002019.2:c.358-2910A>G;NM_001002020.2:c.358-2910A>G;NM_025215.5:c.442-2910A>G 198895545 113389443 BUSHMAN-chr12-130986760 1.33e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420808A>G;NG_013039.1:g.12064A>G;NM_001002019.2:c.358-2910A>G;NM_001002020.2:c.358-2910A>G;NM_025215.5:c.442-2910A>G 226048942 113389443 pilot_1_YRI_7858625_chr12_130986761 1.33e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 18532702 12230188 SC-CHR9-12_NA11321-200402.chr12.NT_035243.4_390644 2.28e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 160043156 12230188 HumanOmni1-Quad_v1-0_B_rs12230188-128_T_F_1579650478 2.28e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 208426468 12230188 BCM_CMT_1011-2436995 2.28e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 281611143 12230188 GMI_AK_SNP_5931532 2.28e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 337720953 12230188 20100804_snps_9364494_chr12_132420858 2.28e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132420858A>G;NG_013039.1:g.12114A>G;NM_001002019.2:c.358-2860A>G;NM_001002020.2:c.358-2860A>G;NM_025215.5:c.442-2860A>G 480238179 12230188 HumanOmni1-Quad_v1-0_C_rs12230188-131_T_F_1863533089 2.28e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132420926G>A;NG_013039.1:g.12182G>A;NM_001002019.2:c.358-2792G>A;NM_001002020.2:c.358-2792G>A;NM_025215.5:c.442-2792G>A 337720954 148995099 20100804_snps_9364495_chr12_132420926 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 80324 NC_000012.11:g.132420978_132420979insACGCCTGT;NG_013039.1:g.12234_12235insACGCCTGT;NM_001002019.2:c.358-2740_358-2739insACGCCTGT;NM_001002020.2:c.358-2740_358-2739insACGCCTGT;NM_025215.5:c.442-2740_442-2739insACGCCTGT 256143011 142140451 SNP9047_12_130986931 2010.08.20 2010.08.20 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132420978_132420979insACGCCTGT;NG_013039.1:g.12234_12235insACGCCTGT;NM_001002019.2:c.358-2740_358-2739insACGCCTGT;NM_001002020.2:c.358-2740_358-2739insACGCCTGT;NM_025215.5:c.442-2740_442-2739insACGCCTGT 327498405 142140451 JPTCHB_chr12_130986931_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132420978_132420979insACGCCTGT;NG_013039.1:g.12234_12235insACGCCTGT;NM_001002019.2:c.358-2740_358-2739insACGCCTGT;NM_001002020.2:c.358-2740_358-2739insACGCCTGT;NM_025215.5:c.442-2740_442-2739insACGCCTGT 327597896 142140451 CEU_chr12_130986931_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132420978_132420979insACGCCTGT;NG_013039.1:g.12234_12235insACGCCTGT;NM_001002019.2:c.358-2740_358-2739insACGCCTGT;NM_001002020.2:c.358-2740_358-2739insACGCCTGT;NM_025215.5:c.442-2740_442-2739insACGCCTGT 328047587 142140451 YRI_chr12_130986931_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 PJP 80324 NC_000012.11:g.132420979_132420980insACGCCTGT;NG_013039.1:g.12235_12236insACGCCTGT;NM_001002019.2:c.358-2739_358-2738insACGCCTGT;NM_001002020.2:c.358-2739_358-2738insACGCCTGT;NM_025215.5:c.442-2739_442-2738insACGCCTGT 294783819 143316329 DIP_221523_chr12_130986932 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 BCMHGSC_JDW 80324 NC_000012.11:g.132420980_132420981insACCTGTAC;NC_000012.11:g.132420980_132420981insCGCCTGTA;NG_013039.1:g.12236_12237insACCTGTAC;NG_013039.1:g.12236_12237insCGCCTGTA;NM_001002019.2:c.358-2738_358-2737insACCTGTAC;NM_001002019.2:c.358-2738_358-2737insCGCCTGTA;NM_001002020.2:c.358-2738_358-2737insACCTGTAC;NM_001002020.2:c.358-2738_358-2737insCGCCTGTA;NM_025215.5:c.442-2738_442-2737insACCTGTAC;NM_025215.5:c.442-2738_442-2737insCGCCTGTA 103821981 78948396 JWB-4169756 2008.06.07 2009.05.12 2009.12.01 2012.05.16 137 PJP 80324 NC_000012.11:g.132420980_132420981insACCTGTAC;NC_000012.11:g.132420980_132420981insCGCCTGTA;NG_013039.1:g.12236_12237insACCTGTAC;NG_013039.1:g.12236_12237insCGCCTGTA;NM_001002019.2:c.358-2738_358-2737insACCTGTAC;NM_001002019.2:c.358-2738_358-2737insCGCCTGTA;NM_001002020.2:c.358-2738_358-2737insACCTGTAC;NM_001002020.2:c.358-2738_358-2737insCGCCTGTA;NM_025215.5:c.442-2738_442-2737insACCTGTAC;NM_025215.5:c.442-2738_442-2737insCGCCTGTA 294783820 78948396 DIP_221524_chr12_130986933 2011.01.22 2011.01.22 2009.12.01 2012.05.16 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132420987_132420988insCGCCTGTA;NG_013039.1:g.12243_12244insCGCCTGTA;NM_001002019.2:c.358-2731_358-2730insCGCCTGTA;NM_001002020.2:c.358-2731_358-2730insCGCCTGTA;NM_025215.5:c.442-2731_442-2730insCGCCTGTA 95612263 71076407 1104685318196 2008.03.22 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132421062C>T;NG_013039.1:g.12318C>T;NM_001002019.2:c.358-2656C>T;NM_001002020.2:c.358-2656C>T;NM_025215.5:c.442-2656C>T 463214735 184466304 20101123_snps_9381965_chr12_132421062 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132421072T>C;NG_013039.1:g.12328T>C;NM_001002019.2:c.358-2646T>C;NM_001002020.2:c.358-2646T>C;NM_025215.5:c.442-2646T>C 208385193 112112092 BCM_CMT_1011-2423174 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132421074C>T;NG_013039.1:g.12330C>T;NM_001002019.2:c.358-2644C>T;NM_001002020.2:c.358-2644C>T;NM_025215.5:c.442-2644C>T 337720955 142980202 20100804_snps_9364496_chr12_132421074 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132421080C>T;NG_013039.1:g.12336C>T;NM_001002019.2:c.358-2638C>T;NM_001002020.2:c.358-2638C>T;NM_025215.5:c.442-2638C>T 337720956 146537564 20100804_snps_9364497_chr12_132421080 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 80324 NC_000012.11:g.132421111_132421115delAAAAC;NG_013039.1:g.12367_12371delAAAAC;NM_001002019.2:c.358-2607_358-2603delAAAAC;NM_001002020.2:c.358-2607_358-2603delAAAAC;NM_025215.5:c.442-2607_442-2603delAAAAC 289161975 144138843 GMI_AK_INDEL_835501 2.13e-01 2010.12.28 2011.12.28 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421111_132421115delAAAAC;NG_013039.1:g.12367_12371delAAAAC;NM_001002019.2:c.358-2607_358-2603delAAAAC;NM_001002020.2:c.358-2607_358-2603delAAAAC;NM_025215.5:c.442-2607_442-2603delAAAAC 327498408 144138843 JPTCHB_chr12_130987063_indel 2.13e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421111_132421115delAAAAC;NG_013039.1:g.12367_12371delAAAAC;NM_001002019.2:c.358-2607_358-2603delAAAAC;NM_001002020.2:c.358-2607_358-2603delAAAAC;NM_025215.5:c.442-2607_442-2603delAAAAC 328047589 144138843 YRI_chr12_130987063_indel 2.13e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421111_132421115delAAAAC;NG_013039.1:g.12367_12371delAAAAC;NM_001002019.2:c.358-2607_358-2603delAAAAC;NM_001002020.2:c.358-2607_358-2603delAAAAC;NM_025215.5:c.442-2607_442-2603delAAAAC 499906935 144138843 20110316_indels_chr12_132421110_132421114 2.13e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421167C>T;NG_013039.1:g.12423C>T;NM_001002019.2:c.358-2551C>T;NM_001002020.2:c.358-2551C>T;NM_025215.5:c.442-2551C>T 337720957 141195082 20100804_snps_9364498_chr12_132421167 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132421195A>G;NG_013039.1:g.12451A>G;NM_001002019.2:c.358-2523A>G;NM_001002020.2:c.358-2523A>G;NM_025215.5:c.442-2523A>G 463214736 189404763 20101123_snps_9381966_chr12_132421195 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132421208C>T;NG_013039.1:g.12464C>T;NM_001002019.2:c.358-2510C>T;NM_001002020.2:c.358-2510C>T;NM_025215.5:c.442-2510C>T 337720958 145018960 20100804_snps_9364499_chr12_132421208 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132421232G>A;NG_013039.1:g.12488G>A;NM_001002019.2:c.358-2486G>A;NM_001002020.2:c.358-2486G>A;NM_025215.5:c.442-2486G>A 208410175 112900682 BCM_CMT_1011-2431548 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 SC_SNP 80324 NC_000012.11:g.132421279C>A;NG_013039.1:g.12535C>A;NM_001002019.2:c.358-2439C>A;NM_001002020.2:c.358-2439C>A;NM_025215.5:c.442-2439C>A 18772284 12312585 SC-CHR9-12_NA17119-200402.chr12.NT_035243.4_391065 1.15e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132421279C>A;NG_013039.1:g.12535C>A;NM_001002019.2:c.358-2439C>A;NM_001002020.2:c.358-2439C>A;NM_025215.5:c.442-2439C>A 119802678 12312585 NA18507_000164987_NCBI36.1_chr12_130987232 1.15e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421279C>A;NG_013039.1:g.12535C>A;NM_001002019.2:c.358-2439C>A;NM_001002020.2:c.358-2439C>A;NM_025215.5:c.442-2439C>A 226048943 12312585 pilot_1_YRI_7858626_chr12_130987232 1.15e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421279C>A;NG_013039.1:g.12535C>A;NM_001002019.2:c.358-2439C>A;NM_001002020.2:c.358-2439C>A;NM_025215.5:c.442-2439C>A 236151415 12312585 pilot_1_CEU_5756044_chr12_130987232 1.15e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132421279C>A;NG_013039.1:g.12535C>A;NM_001002019.2:c.358-2439C>A;NM_001002020.2:c.358-2439C>A;NM_025215.5:c.442-2439C>A 281611145 12312585 GMI_AK_SNP_5931534 1.15e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 12219604 7976578 chr12.NT_035243.4_391127 6.40e-03 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 15838494 7976578 NT_035243.4_391127 6.40e-03 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 82107411 7976578 Cor19240_SNV_20070510.chr12_131087571 6.40e-03 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 84499498 7976578 Cor18517_SNV_20070510.chr12_131087571 6.40e-03 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 89487621 7976578 JWB-0631284 6.40e-03 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 97265588 7976578 1103649579669 6.40e-03 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 105143384 7976578 BGI_rs7976578 6.40e-03 2008.08.06 2009.06.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 119802682 7976578 NA18507_000164988_NCBI36.1_chr12_130987294 6.40e-03 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 133445696 7976578 ENSSNP5608868 6.40e-03 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 158081542 7976578 GMI_SNP_114405539 6.40e-03 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 168799349 7976578 NA07022_36_chr12_130987294 6.40e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 171209364 7976578 NA19240_36_chr12_130987294 6.40e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 175316049 7976578 NA20431_36_chr12_130987294 6.40e-03 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 198895549 7976578 BUSHMAN-chr12-130987293 6.40e-03 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 208314309 7976578 BCM_CMT_1011-2398860 6.40e-03 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 236151416 7976578 pilot_1_CEU_5756045_chr12_130987294 6.40e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 255400710 7976578 SNP145216_12_130987294 6.40e-03 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 281611146 7976578 GMI_AK_SNP_5931535 6.40e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132421341G>C;NG_013039.1:g.12597G>C;NM_001002019.2:c.358-2377G>C;NM_001002020.2:c.358-2377G>C;NM_025215.5:c.442-2377G>C 291375319 7976578 SNP_881677_chr12_130987294 6.40e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 12187632 7959555 chr12.NT_035243.4_391151 2.13e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 112566324 7959555 CEU.trio.12.15.2008_2843584_chr12_130987318 2.13e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 114328799 7959555 NA19240_2008_12_16_2558340_chr12_130987318 2.13e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 119802685 7959555 NA18507_000164989_NCBI36.1_chr12_130987318 2.13e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 133445699 7959555 ENSSNP10705323 2.13e-01 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 171209372 7959555 NA19240_36_chr12_130987318 2.13e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 226048944 7959555 pilot_1_YRI_7858627_chr12_130987318 2.13e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 236151417 7959555 pilot_1_CEU_5756046_chr12_130987318 2.13e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 242667699 7959555 pilot_1_CHB+JPT_4552776_chr12_130987318 2.13e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132421365C>T;NG_013039.1:g.12621C>T;NM_001002019.2:c.358-2353C>T;NM_001002020.2:c.358-2353C>T;NM_025215.5:c.442-2353C>T 281611147 7959555 GMI_AK_SNP_5931536 2.13e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421382C>T;NG_013039.1:g.12638C>T;NM_001002019.2:c.358-2336C>T;NM_001002020.2:c.358-2336C>T;NM_025215.5:c.442-2336C>T 337720959 138861592 20100804_snps_9364500_chr12_132421382 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132421411_132421412insA;NG_013039.1:g.12667_12668insA;NM_001002019.2:c.358-2307_358-2306insA;NM_001002020.2:c.358-2307_358-2306insA;NM_025215.5:c.442-2307_442-2306insA 193306815 113924882 BUSHMAN-chr12-130987364-130987364 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 DEVINE_LAB 80324 NC_000012.11:g.132421412delA;NG_013039.1:g.12668delA;NM_001002019.2:c.358-2306delA;NM_001002020.2:c.358-2306delA;NM_025215.5:c.442-2306delA 15205829 11327372 INDEL_GP34_WGS_322896 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132421436T>C;NG_013039.1:g.12692T>C;NM_001002019.2:c.358-2282T>C;NM_001002020.2:c.358-2282T>C;NM_025215.5:c.442-2282T>C 463214737 182020686 20101123_snps_9381967_chr12_132421436 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132421487A>G;NG_013039.1:g.12743A>G;NM_001002019.2:c.358-2231A>G;NM_001002020.2:c.358-2231A>G;NM_025215.5:c.442-2231A>G 337720960 140635695 20100804_snps_9364501_chr12_132421487 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132421527_132421528insC;NG_013039.1:g.12783_12784insC;NM_001002019.2:c.358-2191_358-2190insC;NM_001002020.2:c.358-2191_358-2190insC;NM_025215.5:c.442-2191_442-2190insC 499906939 199842522 20110316_indels_chr12_132421527_132421528 8.70e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421664C>T;NG_013039.1:g.12920C>T;NM_001002019.2:c.358-2054C>T;NM_001002020.2:c.358-2054C>T;NM_025215.5:c.442-2054C>T 337720961 150127468 20100804_snps_9364502_chr12_132421664 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 12220322 7976962 chr12.NT_035243.4_391456 2.15e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 112566328 7976962 CEU.trio.12.15.2008_2843585_chr12_130987623 2.15e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 114328808 7976962 NA19240_2008_12_16_2558341_chr12_130987623 2.15e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 119802688 7976962 NA18507_000164990_NCBI36.1_chr12_130987623 2.15e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 171209386 7976962 NA19240_36_chr12_130987623 2.15e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 226048945 7976962 pilot_1_YRI_7858628_chr12_130987623 2.15e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 236151418 7976962 pilot_1_CEU_5756047_chr12_130987623 2.15e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 242667700 7976962 pilot_1_CHB+JPT_4552777_chr12_130987623 2.15e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 281611148 7976962 GMI_AK_SNP_5931537 2.15e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 479670004 7976962 HumanOmni2.5-4v1_D_kgp11390926-0_B_R_1802938180 2.15e-01 2012.01.30 2012.01.30 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132421670G>A;NG_013039.1:g.12926G>A;NM_001002019.2:c.358-2048G>A;NM_001002020.2:c.358-2048G>A;NM_025215.5:c.442-2048G>A 483025983 7976962 HumanOmni2.5-4v1_B_SNP12-130987623-0_B_R_1626901368 2.15e-01 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132421684C>T;NG_013039.1:g.12940C>T;NM_001002019.2:c.358-2034C>T;NM_001002020.2:c.358-2034C>T;NM_025215.5:c.442-2034C>T 463214738 186251169 20101123_snps_9381968_chr12_132421684 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132421713C>T;NG_013039.1:g.12969C>T;NM_001002019.2:c.358-2005C>T;NM_001002020.2:c.358-2005C>T;NM_025215.5:c.442-2005C>T 463214739 189153903 20101123_snps_9381969_chr12_132421713 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132421723G>A;NG_013039.1:g.12979G>A;NM_001002019.2:c.358-1995G>A;NM_001002020.2:c.358-1995G>A;NM_025215.5:c.442-1995G>A 463214740 181571569 20101123_snps_9381970_chr12_132421723 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 80324 NC_000012.11:g.132421905T>G;NG_013039.1:g.13161T>G;NM_001002019.2:c.358-1813T>G;NM_001002020.2:c.358-1813T>G;NM_025215.5:c.442-1813T>G 84672619 57454123 Cor19129_SNV_20070510.chr12_131088135 2007.12.07 2007.12.07 2007.12.14 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132422141G>A;NG_013039.1:g.13397G>A;NM_001002019.2:c.358-1577G>A;NM_001002020.2:c.358-1577G>A;NM_025215.5:c.442-1577G>A 337720962 138591762 20100804_snps_9364503_chr12_132422141 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132422148C>T;NG_013039.1:g.13404C>T;NM_001002019.2:c.358-1570C>T;NM_001002020.2:c.358-1570C>T;NM_025215.5:c.442-1570C>T 337720963 149314504 20100804_snps_9364504_chr12_132422148 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 15677318 10794449 NT_035243.4_392030 4.78e-01 2003.11.17 2004.05.17 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 18542316 10794449 SC-CHR9-12_NA11321-200402.chr12.NT_035243.4_392030 4.78e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 18786442 10794449 SC-CHR9-12_NA17119-200402.chr12.NT_035243.4_392030 4.78e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 18997985 10794449 SC-CHR9-12_NA07340-200402.chr12.NT_035243.4_392030 4.78e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 66550069 10794449 HumanHap300v1.1_rs10794449 4.78e-01 2006.11.09 2006.11.09 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 66900530 10794449 HumanHap550v1.1_rs10794449 4.78e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 67018780 10794449 HumanHap650Yv1.0_rs10794449 4.78e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 70379789 10794449 HumanHap300v2.0_rs10794449 4.78e-01 2007.04.18 2007.11.18 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 70497946 10794449 HumanHap550v3.0__rs10794449 4.78e-01 2007.04.20 2008.03.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 71023459 10794449 HumanHap650Yv3.0_rs10794449 4.78e-01 2007.04.23 2007.04.23 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 75019346 10794449 ILMN_Human_1M_rs10794449 4.78e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 84999629 10794449 KHS870680 4.78e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 97265589 10794449 1103649579670 4.78e-01 2008.03.28 2008.03.28 2004.02.27 2012.11.28 137 BGI 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 103097614 10794449 BGI_rs10794449 4.78e-01 2008.06.05 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 112566335 10794449 CEU.trio.12.15.2008_2843587_chr12_130988197 4.78e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 114328814 10794449 NA19240_2008_12_16_2558342_chr12_130988197 4.78e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 121389185 10794449 HumanCNV370v1_C_rs10794449 4.78e-01 2009.04.14 2009.04.14 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 137530581 10794449 ENSSNP698457 4.78e-01 2009.05.16 2009.10.15 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 152824356 10794449 Human610_Quadv1_B_rs10794449-127_B_F_1501612253 4.78e-01 2009.06.18 2009.06.19 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 158081545 10794449 GMI_SNP_30911091 4.78e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 159142833 10794449 Human660W-Quad_v1_A_rs10794449-128_B_F_1501612253 4.78e-01 2009.07.06 2009.07.06 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 159921786 10794449 HumanOmni1-Quad_v1-0_B_rs10794449-128_B_F_1501612253 4.78e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 168799353 10794449 NA07022_36_chr12_130988197 4.78e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 169620493 10794449 HumanCNV370-Quadv3_C_rs10794449-127_B_F_1501612253 4.78e-01 2009.10.01 2009.10.02 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 170540119 10794449 Human1M-Duov3_B_rs10794449-127_B_F_1501612253 4.78e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 171209394 10794449 NA19240_36_chr12_130988197 4.78e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 175316051 10794449 NA20431_36_chr12_130988197 4.78e-01 2009.10.05 2009.10.05 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 208227337 10794449 BCM_CMT_1011-2367311 4.78e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 226048947 10794449 pilot_1_YRI_7858630_chr12_130988197 4.78e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 236151419 10794449 pilot_1_CEU_5756048_chr12_130988197 4.78e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 242667701 10794449 pilot_1_CHB+JPT_4552778_chr12_130988197 4.78e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 255400711 10794449 SNP145217_12_130988197 4.78e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 281611149 10794449 GMI_AK_SNP_5931538 4.78e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 291375320 10794449 SNP_881678_chr12_130988197 4.78e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 479352055 10794449 HumanOmni2.5-4v1_B_rs10794449-128_B_F_1782888711 4.78e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 479355121 10794449 HumanOmniExpress-12v1_C_rs10794449-131_B_F_1857147813 4.78e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 479753134 10794449 HumanOmni1-Quad_v1-0_C_rs10794449-131_B_F_1865168558 4.78e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422244T>G;NG_013039.1:g.13500T>G;NM_001002019.2:c.358-1474T>G;NM_001002020.2:c.358-1474T>G;NM_025215.5:c.442-1474T>G 484476203 10794449 HumanOmni2.5-4v1_D_rs10794449-131_B_F_1857147813 4.78e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422328C>T;NG_013039.1:g.13584C>T;NM_001002019.2:c.358-1390C>T;NM_001002020.2:c.358-1390C>T;NM_025215.5:c.442-1390C>T 337720964 143615559 20100804_snps_9364505_chr12_132422328 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132422432A>G;NG_013039.1:g.13688A>G;NM_001002019.2:c.358-1286A>G;NM_001002020.2:c.358-1286A>G;NM_025215.5:c.442-1286A>G 463214741 186831465 20101123_snps_9381971_chr12_132422432 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132422434A>G;NG_013039.1:g.13690A>G;NM_001002019.2:c.358-1284A>G;NM_001002020.2:c.358-1284A>G;NM_025215.5:c.442-1284A>G 337720966 143405929 20100804_snps_9364507_chr12_132422434 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132422499A>G;NG_013039.1:g.13755A>G;NM_001002019.2:c.358-1219A>G;NM_001002020.2:c.358-1219A>G;NM_025215.5:c.442-1219A>G 463214742 191260400 20101123_snps_9381972_chr12_132422499 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132422555C>G;NG_013039.1:g.13811C>G;NM_001002019.2:c.358-1163C>G;NM_001002020.2:c.358-1163C>G;NM_025215.5:c.442-1163C>G 463214743 183174229 20101123_snps_9381973_chr12_132422555 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 80324 NC_000012.11:g.132422632G>T;NG_013039.1:g.13888G>T;NM_001002019.2:c.358-1086G>T;NM_001002020.2:c.358-1086G>T;NM_025215.5:c.442-1086G>T 198895552 112625996 BUSHMAN-chr12-130988584 2.30e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422632G>T;NG_013039.1:g.13888G>T;NM_001002019.2:c.358-1086G>T;NM_001002020.2:c.358-1086G>T;NM_025215.5:c.442-1086G>T 337720967 112625996 20100804_snps_9364508_chr12_132422632 2.30e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 6871771 4965005 NT_035243.2_90672 4.85e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 12227953 4965005 chr12.NT_035243.4_392504 4.85e-01 2003.07.04 2008.03.31 2003.02.20 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 16206180 4965005 NT_035243.4_392504 4.85e-01 2003.11.18 2003.11.22 2003.02.20 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 16580966 4965005 CSHL-HuAA-200402.chr12.NT_035243.4_392504 4.85e-01 2004.02.17 2004.03.04 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 75009435 4965005 ILMN_Human_1M_rs4965005 4.85e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 76641603 4965005 AFFY_6_1M_SNP_A-8502881 4.85e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 77601463 4965005 Cor12156_SNV_20070510.chr12_131088948 4.85e-01 2007.10.13 2007.10.13 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 97265590 4965005 1103649579671 4.85e-01 2008.03.28 2008.03.28 2003.02.20 2012.11.28 137 BGI 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 103097615 4965005 BGI_rs4965005 4.85e-01 2008.06.05 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 112566340 4965005 CEU.trio.12.15.2008_2843588_chr12_130988671 4.85e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 114328822 4965005 NA19240_2008_12_16_2558343_chr12_130988671 4.85e-01 2008.12.18 2008.12.18 2003.02.20 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 119496183 4965005 KHS1658430 4.85e-01 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 137530578 4965005 ENSSNP698458 4.85e-01 2009.05.16 2009.10.15 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 168799357 4965005 NA07022_36_chr12_130988671 4.85e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 171209405 4965005 NA19240_36_chr12_130988671 4.85e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 173894579 4965005 Human1M-Duov3_B_rs4965005-127_T_R_1513979938 4.85e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 175316053 4965005 NA20431_36_chr12_130988671 4.85e-01 2009.10.05 2009.10.05 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 208293270 4965005 BCM_CMT_1011-2391274 4.85e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 226048948 4965005 pilot_1_YRI_7858631_chr12_130988671 4.85e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 236151420 4965005 pilot_1_CEU_5756049_chr12_130988671 4.85e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 242667702 4965005 pilot_1_CHB+JPT_4552779_chr12_130988671 4.85e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 255400713 4965005 SNP145218_12_130988671 4.85e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 281611150 4965005 GMI_AK_SNP_5931539 4.85e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 80324 NC_000012.11:g.132422718G>A;NG_013039.1:g.13974G>A;NM_001002019.2:c.358-1000G>A;NM_001002020.2:c.358-1000G>A;NM_025215.5:c.442-1000G>A 291375321 4965005 SNP_881679_chr12_130988671 4.85e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132422719T>C;NG_013039.1:g.13975T>C;NM_001002019.2:c.358-999T>C;NM_001002020.2:c.358-999T>C;NM_025215.5:c.442-999T>C 337720969 141205525 20100804_snps_9364510_chr12_132422719 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132422835T>A;NG_013039.1:g.14091T>A;NM_001002019.2:c.358-883T>A;NM_001002020.2:c.358-883T>A;NM_025215.5:c.442-883T>A 226048949 115624790 pilot_1_YRI_7858632_chr12_130988788 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423059G>A;NG_013039.1:g.14315G>A;NM_001002019.2:c.358-659G>A;NM_001002020.2:c.358-659G>A;NM_025215.5:c.442-659G>A 463214744 186088033 20101123_snps_9381974_chr12_132423059 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 15165064 11289903 INDEL_GP34_WGS_267751 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 15238362 11289903 INDEL_GP34_WGS_369216 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 50240883 11289903 INDEL_GP35_WGS_485617 2006.01.24 2006.01.24 2004.02.28 2012.11.28 137 HGSV 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 81559980 11289903 Cor18555_DIV_20070510.chr12_131089508-131089510_1 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676079 11289903 INDEL_GP36_2008a_205220_1 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676081 11289903 INDEL_GP36_2008a_205220_2 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676083 11289903 INDEL_GP36_2008a_205220_3 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676085 11289903 INDEL_GP36_2008a_205220_4 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676087 11289903 INDEL_GP36_2008a_205220_5 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 94676089 11289903 INDEL_GP36_2008a_205220_6 2008.03.07 2008.05.18 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 95612264 11289903 1104685318195 2008.03.22 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99547016 11289903 INDEL_GP36_2007a_2935608_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99631725 11289903 INDEL_GP36_2007a_444594_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99739386 11289903 INDEL_GP36_2007a_205220_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99759049 11289903 INDEL_GP36_2007a_204543_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99898278 11289903 INDEL_GP36_2007a_205710_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 99929926 11289903 INDEL_GP36_2007a_205539_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 101544136 11289903 INDEL_GP36_2008a_205539_1 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 101544139 11289903 INDEL_GP36_2008a_205539_2 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 102117662 11289903 INDEL_GP36_2008a_205220_7 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 102117664 11289903 INDEL_GP36_2008a_205220_8 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 102341237 11289903 INDEL_GP36_2008a_204543_1 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 102600273 11289903 INDEL_GP36_2008a_2935608_1 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 BL 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 256143018 11289903 SNP9048_12_130989214 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 PJP 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 294783821 11289903 DIP_221525_chr12_130989215 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 PJP 80324 NC_000012.11:g.132423262delT;NG_013039.1:g.14518delT;NM_001002019.2:c.358-456delT;NM_001002020.2:c.358-456delT;NM_025215.5:c.442-456delT 294783822 11289903 DIP_221526_chr12_130989232 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423411C>T;NG_013039.1:g.14667C>T;NM_001002019.2:c.358-307C>T;NM_001002020.2:c.358-307C>T;NM_025215.5:c.442-307C>T 337720970 150867359 20100804_snps_9364511_chr12_132423411 1.74e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132423464A>T;NG_013039.1:g.14720A>T;NM_001002019.2:c.358-254A>T;NM_001002020.2:c.358-254A>T;NM_025215.5:c.442-254A>T 463214745 189809654 20101123_snps_9381975_chr12_132423464 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132423522G>A;NG_013039.1:g.14778G>A;NM_001002019.2:c.358-196G>A;NM_001002020.2:c.358-196G>A;NM_025215.5:c.442-196G>A 337720971 139367682 20100804_snps_9364512_chr12_132423522 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132423548A>G;NG_013039.1:g.14804A>G;NM_001002019.2:c.358-170A>G;NM_001002020.2:c.358-170A>G;NM_025215.5:c.442-170A>G 337720972 150042743 20100804_snps_9364513_chr12_132423548 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132423641T>A;NG_013039.1:g.14897T>A;NM_001002019.2:c.358-77T>A;NM_001002020.2:c.358-77T>A;NM_025215.5:c.442-77T>A 112566342 73162965 CEU.trio.12.15.2008_2843589_chr12_130989594 5.50e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423641T>A;NG_013039.1:g.14897T>A;NM_001002019.2:c.358-77T>A;NM_001002020.2:c.358-77T>A;NM_025215.5:c.442-77T>A 226048951 73162965 pilot_1_YRI_7858634_chr12_130989594 5.50e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423672G>A;NG_013039.1:g.14928G>A;NM_001002019.2:c.358-46G>A;NM_001002020.2:c.358-46G>A;NM_025215.5:c.442-46G>A 463214746 183554230 20101123_snps_9381976_chr12_132423672 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423672G>A;NG_013039.1:g.14928G>A;NM_001002019.2:c.358-46G>A;NM_001002020.2:c.358-46G>A;NM_025215.5:c.442-46G>A 491055604 183554230 20110521_exome_563402_chr12_132423672 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132423726C>T;NG_013039.1:g.14982C>T;NM_001002019.2:c.366C>T;NM_001002020.2:c.366C>T;NM_025215.5:c.450C>T;NP_001002019.1:p.Ser122=;NP_001002020.1:p.Ser122=;NP_079491.2:p.Ser150= 342371528 138050795 ESP2500-chr12-132423726 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 WI_SSAHASNP 80324 NC_000012.11:g.132423778G>A;NG_013039.1:g.15034G>A;NM_001002019.2:c.418G>A;NM_001002020.2:c.418G>A;NM_025215.5:c.502G>A;NP_001002019.1:p.Glu140Lys;NP_001002020.1:p.Glu140Lys;NP_079491.2:p.Glu168Lys 6871664 4964912 NT_035243.2_89612 2003.02.14 2003.10.10 2003.02.20 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132423893T>C;NG_013039.1:g.15149T>C;NM_001002019.2:c.460+73T>C;NM_001002020.2:c.460+73T>C;NM_025215.5:c.544+73T>C 242667704 116950634 pilot_1_CHB+JPT_4552781_chr12_130989846 8.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132423918T>C;NG_013039.1:g.15174T>C;NM_001002019.2:c.460+98T>C;NM_001002020.2:c.460+98T>C;NM_025215.5:c.544+98T>C 112566346 73162967 CEU.trio.12.15.2008_2843590_chr12_130989871 2.70e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423918T>C;NG_013039.1:g.15174T>C;NM_001002019.2:c.460+98T>C;NM_001002020.2:c.460+98T>C;NM_025215.5:c.544+98T>C 337720973 73162967 20100804_snps_9364514_chr12_132423918 2.70e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 GMI 80324 NC_000012.11:g.132423927G>T;NG_013039.1:g.15183G>T;NM_001002019.2:c.460+107G>T;NM_001002020.2:c.460+107G>T;NM_025215.5:c.544+107G>T 281611152 140201887 GMI_AK_SNP_5931541 1.10e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132423927G>T;NG_013039.1:g.15183G>T;NM_001002019.2:c.460+107G>T;NM_001002020.2:c.460+107G>T;NM_025215.5:c.544+107G>T 337720974 140201887 20100804_snps_9364515_chr12_132423927 1.10e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132424073T>G;NG_013039.1:g.15329T>G;NM_001002019.2:c.460+253T>G;NM_001002020.2:c.460+253T>G;NM_025215.5:c.544+253T>G 19257299 12427093 CSHL-HuDD-200402.chr12.NT_035243.4_393859 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ILLUMINA 80324 NC_000012.11:g.132424073T>G;NG_013039.1:g.15329T>G;NM_001002019.2:c.460+253T>G;NM_001002020.2:c.460+253T>G;NM_025215.5:c.544+253T>G 74986023 12427093 ILMN_Human_1M_rs12427093 2007.08.29 2007.08.29 2004.02.28 2011.09.09 137 KRIBB_YJKIM 80324 NC_000012.11:g.132424073T>G;NG_013039.1:g.15329T>G;NM_001002019.2:c.460+253T>G;NM_001002020.2:c.460+253T>G;NM_025215.5:c.544+253T>G 119779336 12427093 KHS1843104 2009.02.05 2009.02.05 2004.02.28 2011.09.09 137 ILLUMINA 80324 NC_000012.11:g.132424073T>G;NG_013039.1:g.15329T>G;NM_001002019.2:c.460+253T>G;NM_001002020.2:c.460+253T>G;NM_025215.5:c.544+253T>G 172068886 12427093 Human1M-Duov3_B_rs12427093-120_B_F_1513960150 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132424243A>G;NG_013039.1:g.15499A>G;NM_001002019.2:c.460+423A>G;NM_001002020.2:c.460+423A>G;NM_025215.5:c.544+423A>G 463214747 187904591 20101123_snps_9381977_chr12_132424243 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132424273C>T;NG_013039.1:g.15529C>T;NM_001002019.2:c.460+453C>T;NM_001002020.2:c.460+453C>T;NM_025215.5:c.544+453C>T 463214748 192410406 20101123_snps_9381978_chr12_132424273 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 12189172 7960397 chr12.NT_035243.4_394172 2.15e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 78491587 7960397 Cor18507_SNV_20070510.chr12_131090616 2.15e-01 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 89487625 7960397 JWB-0631285 2.15e-01 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 119802692 7960397 NA18507_000164991_NCBI36.1_chr12_130990339 2.15e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 133445702 7960397 ENSSNP10705324 2.15e-01 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 171209420 7960397 NA19240_36_chr12_130990339 2.15e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 236151422 7960397 pilot_1_CEU_5756051_chr12_130990339 2.15e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 281611153 7960397 GMI_AK_SNP_5931542 2.15e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132424386G>T;NG_013039.1:g.15642G>T;NM_001002019.2:c.460+566G>T;NM_001002020.2:c.460+566G>T;NM_025215.5:c.544+566G>T 291375322 7960397 SNP_881680_chr12_130990339 2.15e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424496G>A;NG_013039.1:g.15752G>A;NM_001002019.2:c.460+676G>A;NM_001002020.2:c.460+676G>A;NM_025215.5:c.544+676G>A 463214749 183532078 20101123_snps_9381979_chr12_132424496 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 15531134 10902481 NT_035243.4_394303 4.86e-01 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 19005438 10902481 SC-CHR9-12_NA07340-200402.chr12.NT_035243.4_394303 4.86e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 19957350 10902481 CSHL-HuFF-200402.chr12.NT_035243.4_394303 4.86e-01 2004.02.21 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 20977831 10902481 WGSA-200403-chr12.chr12.NT_035243.4_394303 4.86e-01 2004.03.19 2004.03.19 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 74970831 10902481 ILMN_Human_1M_rs10902481 4.86e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 83921815 10902481 Cor18555_SNV_20070510.chr12_131090747 4.86e-01 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 97265591 10902481 1103649579676 4.86e-01 2008.03.28 2008.03.28 2004.02.27 2012.11.28 137 BGI 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 103097616 10902481 BGI_rs10902481 4.86e-01 2008.06.05 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 112566354 10902481 CEU.trio.12.15.2008_2843592_chr12_130990470 4.86e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 114328829 10902481 NA19240_2008_12_16_2558344_chr12_130990470 4.86e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 119649245 10902481 KHS1794351 4.86e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 137530575 10902481 ENSSNP698459 4.86e-01 2009.05.16 2009.10.15 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 158081554 10902481 GMI_SNP_114962866 4.86e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 159936279 10902481 HumanOmni1-Quad_v1-0_B_rs10902481-128_T_R_1513919216 4.86e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 168799358 10902481 NA07022_36_chr12_130990470 4.86e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 170728157 10902481 Human1M-Duov3_B_rs10902481-121_T_R_1513919216 4.86e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 171209433 10902481 NA19240_36_chr12_130990470 4.86e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 175316055 10902481 NA20431_36_chr12_130990470 4.86e-01 2009.10.05 2009.10.05 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 208231647 10902481 BCM_CMT_1011-2368885 4.86e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 226048952 10902481 pilot_1_YRI_7858635_chr12_130990470 4.86e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 236151423 10902481 pilot_1_CEU_5756052_chr12_130990470 4.86e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 242667705 10902481 pilot_1_CHB+JPT_4552782_chr12_130990470 4.86e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 255400715 10902481 SNP145219_12_130990470 4.86e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 281611154 10902481 GMI_AK_SNP_5931543 4.86e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 291375323 10902481 SNP_881681_chr12_130990470 4.86e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 479397397 10902481 HumanOmni2.5-4v1_B_rs10902481-128_T_R_1513919216 4.86e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 479400644 10902481 HumanOmniExpress-12v1_C_rs10902481-131_T_R_1857176301 4.86e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 479811154 10902481 HumanOmni1-Quad_v1-0_C_rs10902481-131_T_R_1857176301 4.86e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424517T>C;NG_013039.1:g.15773T>C;NM_001002019.2:c.460+697T>C;NM_001002020.2:c.460+697T>C;NM_025215.5:c.544+697T>C 484498691 10902481 HumanOmni2.5-4v1_D_rs10902481-131_T_R_1857176301 4.86e-01 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424561G>A;NG_013039.1:g.15817G>A;NM_001002019.2:c.460+741G>A;NM_001002020.2:c.460+741G>A;NM_025215.5:c.544+741G>A 236151424 77752007 pilot_1_CEU_5756053_chr12_130990514 1.97e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132424637G>A;NG_013039.1:g.15893G>A;NM_001002019.2:c.460+817G>A;NM_001002020.2:c.460+817G>A;NM_025215.5:c.544+817G>A 463214750 188574215 20101123_snps_9381980_chr12_132424637 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 6871770 4965004 NT_035243.2_88690 2.29e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 16278744 4965004 NT_035243.4_394486 2.29e-01 2003.11.18 2003.11.22 2003.02.20 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 89487629 4965004 JWB-0631286 2.29e-01 2008.02.28 2008.02.28 2003.02.20 2012.11.28 137 BGI 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 103097617 4965004 BGI_rs4965004 2.29e-01 2008.06.05 2009.06.17 2003.02.20 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 133445706 4965004 ENSSNP6825609 2.29e-01 2009.05.12 2009.05.14 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 158081557 4965004 GMI_SNP_96597509 2.29e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 208372041 4965004 BCM_CMT_1011-2418770 2.29e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 226048953 4965004 pilot_1_YRI_7858636_chr12_130990653 2.29e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 236151425 4965004 pilot_1_CEU_5756054_chr12_130990653 2.29e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 242667706 4965004 pilot_1_CHB+JPT_4552783_chr12_130990653 2.29e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 281611155 4965004 GMI_AK_SNP_5931544 2.29e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 80324 NC_000012.11:g.132424700A>G;NG_013039.1:g.15956A>G;NM_001002019.2:c.460+880A>G;NM_001002020.2:c.460+880A>G;NM_025215.5:c.544+880A>G 291375324 4965004 SNP_881682_chr12_130990653 2.29e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424734C>T;NG_013039.1:g.15990C>T;NM_001002019.2:c.460+914C>T;NM_001002020.2:c.460+914C>T;NM_025215.5:c.544+914C>T 337720976 146787374 20100804_snps_9364517_chr12_132424734 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PJP 80324 NC_000012.11:g.132424836delA;NG_013039.1:g.16092delA;NM_001002019.2:c.461-1001delA;NM_001002020.2:c.461-1001delA;NM_025215.5:c.545-1001delA 294783823 138351707 DIP_221527_chr12_130990789 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 SC_SNP 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 15677319 10902482 NT_035243.4_394730 1.15e-01 2003.11.17 2008.03.31 2004.02.27 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 17447970 10902482 CSHL-HuCC-200402.chr12.NT_035243.4_394730 1.15e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 18734634 10902482 SC-CHR9-12_NA17119-200402.chr12.NT_035243.4_394730 1.15e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 40196738 10902482 hCV319432 1.15e-01 2005.07.16 2005.07.16 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 74975969 10902482 ILMN_Human_1M_rs10902482 1.15e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 AFFY 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 76824865 10902482 AFFY_6_1M_SNP_A-8686423 1.15e-01 2007.08.30 2007.08.30 2004.02.27 2012.11.28 137 HGSV 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 85674965 10902482 Cor18517_SNV_20070510.chr12_131091174 1.15e-01 2007.12.09 2007.12.09 2004.02.27 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 89487633 10902482 JWB-0631287 1.15e-01 2008.02.28 2008.02.28 2004.02.27 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 119649248 10902482 KHS1794352 1.15e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 119802695 10902482 NA18507_000164992_NCBI36.1_chr12_130990897 1.15e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 133445708 10902482 ENSSNP6428291 1.15e-01 2009.05.12 2009.05.14 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 159936280 10902482 HumanOmni1-Quad_v1-0_B_rs10902482-128_B_F_1513919217 1.15e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 161500009 10902482 ENSSNP698460 1.15e-01 2009.09.25 2010.03.07 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 170728166 10902482 Human1M-Duov3_B_rs10902482-127_B_F_1513919217 1.15e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 226048954 10902482 pilot_1_YRI_7858637_chr12_130990897 1.15e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 236151426 10902482 pilot_1_CEU_5756055_chr12_130990897 1.15e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 242667707 10902482 pilot_1_CHB+JPT_4552784_chr12_130990897 1.15e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 281611156 10902482 GMI_AK_SNP_5931545 1.15e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 291375325 10902482 SNP_881683_chr12_130990897 1.15e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 479397401 10902482 HumanOmni2.5-4v1_B_rs10902482-128_B_F_1772866970 1.15e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 479400648 10902482 HumanOmniExpress-12v1_C_rs10902482-131_B_F_1857176302 1.15e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 479811158 10902482 HumanOmni1-Quad_v1-0_C_rs10902482-131_B_F_1865276282 1.15e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132424944T>C;NG_013039.1:g.16200T>C;NM_001002019.2:c.461-893T>C;NM_001002020.2:c.461-893T>C;NM_025215.5:c.545-893T>C 484498693 10902482 HumanOmni2.5-4v1_D_rs10902482-131_B_F_1857176302 1.15e-01 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132424946C>T;NG_013039.1:g.16202C>T;NM_001002019.2:c.461-891C>T;NM_001002020.2:c.461-891C>T;NM_025215.5:c.545-891C>T 242667708 117290471 pilot_1_CHB+JPT_4552785_chr12_130990899 1.28e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132425164C>T;NG_013039.1:g.16420C>T;NM_001002019.2:c.461-673C>T;NM_001002020.2:c.461-673C>T;NM_025215.5:c.545-673C>T 337720978 143717259 20100804_snps_9364519_chr12_132425164 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132425414G>A;NG_013039.1:g.16670G>A;NM_001002019.2:c.461-423G>A;NM_001002020.2:c.461-423G>A;NM_025215.5:c.545-423G>A 463214751 192774869 20101123_snps_9381981_chr12_132425414 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 10706245 6598176 chr12.NT_035243.4_395234 2.63e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 12175277 6598176 chr12.NT_035243.4_395234 2.63e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 15677320 6598176 NT_035243.4_395234 2.63e-01 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 16559262 6598176 CSHL-HuAA-200402.chr12.NT_035243.4_395234 2.63e-01 2004.02.17 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 17447891 6598176 CSHL-HuCC-200402.chr12.NT_035243.4_395234 2.63e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 19226640 6598176 CSHL-HuDD-200402.chr12.NT_035243.4_395234 2.63e-01 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 20864235 6598176 WGSA-200403-chr12.chr12.NT_035243.4_395234 2.63e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 77799536 6598176 Cor12156_SNV_20070510.chr12_131091678 2.63e-01 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 85153232 6598176 Cor19240_SNV_20070510.chr12_131091678 2.63e-01 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 86155517 6598176 Cor18517_SNV_20070510.chr12_131091678 2.63e-01 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 89487637 6598176 JWB-0631288 2.63e-01 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 97265592 6598176 1103649579677 2.63e-01 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 103097618 6598176 BGI_rs6598176 2.63e-01 2008.06.05 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 112566358 6598176 CEU.trio.12.15.2008_2843593_chr12_130991401 2.63e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 114328834 6598176 NA19240_2008_12_16_2558345_chr12_130991401 2.63e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 119802698 6598176 NA18507_000164993_NCBI36.1_chr12_130991401 2.63e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 133445711 6598176 ENSSNP6472478 2.63e-01 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 137530572 6598176 ENSSNP698461 2.63e-01 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 158081564 6598176 GMI_SNP_31462974 2.63e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 168799363 6598176 NA07022_36_chr12_130991401 2.63e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 171209443 6598176 NA19240_36_chr12_130991401 2.63e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 208257902 6598176 BCM_CMT_1011-2378514 2.63e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 226048955 6598176 pilot_1_YRI_7858638_chr12_130991401 2.63e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 236151427 6598176 pilot_1_CEU_5756056_chr12_130991401 2.63e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 242667709 6598176 pilot_1_CHB+JPT_4552786_chr12_130991401 2.63e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 255400717 6598176 SNP145220_12_130991401 2.63e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 281611157 6598176 GMI_AK_SNP_5931546 2.63e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132425448A>G;NG_013039.1:g.16704A>G;NM_001002019.2:c.461-389A>G;NM_001002020.2:c.461-389A>G;NM_025215.5:c.545-389A>G 291375326 6598176 SNP_881684_chr12_130991401 2.63e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132425508C>A;NG_013039.1:g.16764C>A;NM_001002019.2:c.461-329C>A;NM_001002020.2:c.461-329C>A;NM_025215.5:c.545-329C>A 104926755 72553049 KHS1319078 2008.07.10 2008.07.10 2009.02.14 2011.07.08 137 BCM_SSAHASNP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 10706290 6598177 chr12.NT_035243.4_395295 2.75e-02 2003.06.30 2004.05.17 2003.07.11 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 12175321 6598177 chr12.NT_035243.4_395295 2.75e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 15677321 6598177 NT_035243.4_395295 2.75e-02 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 16559279 6598177 CSHL-HuAA-200402.chr12.NT_035243.4_395295 2.75e-02 2004.02.17 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 17447905 6598177 CSHL-HuCC-200402.chr12.NT_035243.4_395295 2.75e-02 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 19226650 6598177 CSHL-HuDD-200402.chr12.NT_035243.4_395295 2.75e-02 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 20864419 6598177 WGSA-200403-chr12.chr12.NT_035243.4_395295 2.75e-02 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 PERLEGEN 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 46550711 6598177 PS04141605 2.75e-02 2005.08.01 2005.08.01 2003.07.11 2012.11.28 137 AFFY 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 76488561 6598177 AFFY_6_1M_SNP_A-8349524 2.75e-02 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 77764126 6598177 Cor12156_SNV_20070510.chr12_131091739 2.75e-02 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 78711159 6598177 Cor12878_SNV_20070510.chr12_131091739 2.75e-02 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 85000128 6598177 Cor19240_SNV_20070510.chr12_131091739 2.75e-02 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 86087441 6598177 Cor18517_SNV_20070510.chr12_131091739 2.75e-02 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 89487641 6598177 JWB-0631289 2.75e-02 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 97265593 6598177 1103649579678 2.75e-02 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 105143387 6598177 BGI_rs6598177 2.75e-02 2008.08.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 112566362 6598177 CEU.trio.12.15.2008_2843594_chr12_130991462 2.75e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 119802700 6598177 NA18507_000164994_NCBI36.1_chr12_130991462 2.75e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 133445714 6598177 ENSSNP10705328 2.75e-02 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 137530569 6598177 ENSSNP698462 2.75e-02 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 158081572 6598177 GMI_SNP_30874095 2.75e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 168799364 6598177 NA07022_36_chr12_130991462 2.75e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 171209454 6598177 NA19240_36_chr12_130991462 2.75e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 175316057 6598177 NA20431_36_chr12_130991462 2.75e-02 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 198895555 6598177 BUSHMAN-chr12-130991461 2.75e-02 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 211365284 6598177 YRI.trio.3.2010_1143048_chr12_130991462 2.75e-02 2010.03.30 2010.03.30 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 226048956 6598177 pilot_1_YRI_7858639_chr12_130991462 2.75e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 236151428 6598177 pilot_1_CEU_5756057_chr12_130991462 2.75e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 242667710 6598177 pilot_1_CHB+JPT_4552787_chr12_130991462 2.75e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 255400719 6598177 SNP145221_12_130991462 2.75e-02 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 281611158 6598177 GMI_AK_SNP_5931547 2.75e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 291375327 6598177 SNP_881685_chr12_130991462 2.75e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 483025989 6598177 HumanOmni2.5-4v1_B_SNP12-130991462-0_T_F_1619942024 2.75e-02 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132425509A>C;NG_013039.1:g.16765A>C;NM_001002019.2:c.461-328A>C;NM_001002020.2:c.461-328A>C;NM_025215.5:c.545-328A>C 483987836 6598177 HumanOmni2.5-4v1_D_kgp787478-0_T_F_1804747263 2.75e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425595C>G;NG_013039.1:g.16851C>G;NM_001002019.2:c.461-242C>G;NM_001002020.2:c.461-242C>G;NM_025215.5:c.545-242C>G 337720979 151187817 20100804_snps_9364520_chr12_132425595 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132425761G>A;NG_013039.1:g.17017G>A;NM_001002019.2:c.461-76G>A;NM_001002020.2:c.461-76G>A;NM_025215.5:c.545-76G>A 226048957 114879565 pilot_1_YRI_7858640_chr12_130991714 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132425788C>T;NG_013039.1:g.17044C>T;NM_001002019.2:c.461-49C>T;NM_001002020.2:c.461-49C>T;NM_025215.5:c.545-49C>T 489011197 199643265 20110521_exome_180746_chr12_132425788 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 HGSV 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 80084293 57283875 Cor18507_SNV_20070510.chr12_131092020 5.45e-02 2007.11.24 2007.11.24 2007.12.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 114328846 57283875 NA19240_2008_12_16_2558346_chr12_130991743 5.45e-02 2008.12.18 2008.12.18 2007.12.14 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 119802703 57283875 NA18507_000164995_NCBI36.1_chr12_130991743 5.45e-02 2009.02.05 2009.02.05 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 171209460 57283875 NA19240_36_chr12_130991743 5.45e-02 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 198895559 57283875 BUSHMAN-chr12-130991742 5.45e-02 2010.03.06 2010.03.06 2007.12.14 2012.11.28 137 GMI 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 281611159 57283875 GMI_AK_SNP_5931548 5.45e-02 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 463214752 57283875 20101123_snps_9381982_chr12_132425790 5.45e-02 2011.07.20 2011.07.20 2007.12.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425790A>G;NG_013039.1:g.17046A>G;NM_001002019.2:c.461-47A>G;NM_001002020.2:c.461-47A>G;NM_025215.5:c.545-47A>G 491055605 57283875 20110521_exome_563403_chr12_132425790 5.45e-02 2012.02.22 2012.02.22 2007.12.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425793_132425794insA;NG_013039.1:g.17049_17050insA;NM_001002019.2:c.461-44_461-43insA;NM_001002020.2:c.461-44_461-43insA;NM_025215.5:c.545-44_545-43insA 328047591 139609840 YRI_chr12_130991746_indel 2.11e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425793_132425794insA;NG_013039.1:g.17049_17050insA;NM_001002019.2:c.461-44_461-43insA;NM_001002020.2:c.461-44_461-43insA;NM_025215.5:c.545-44_545-43insA 499906943 139609840 20110316_indels_chr12_132425793_132425794 2.11e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425830C>T;NG_013039.1:g.17086C>T;NM_001002019.2:c.461-7C>T;NM_001002020.2:c.461-7C>T;NM_025215.5:c.545-7C>T 489011199 201541270 20110521_exome_180747_chr12_132425830 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132425913G>A;NG_013039.1:g.17169G>A;NM_001002019.2:c.537G>A;NM_001002020.2:c.537G>A;NM_025215.5:c.621G>A;NP_001002019.1:p.Thr179=;NP_001002020.1:p.Thr179=;NP_079491.2:p.Thr207= 342371529 142044204 ESP2500-chr12-132425913 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425913G>A;NG_013039.1:g.17169G>A;NM_001002019.2:c.537G>A;NM_001002020.2:c.537G>A;NM_025215.5:c.621G>A;NP_001002019.1:p.Thr179=;NP_001002020.1:p.Thr179=;NP_079491.2:p.Thr207= 463214753 142044204 20101123_snps_9381983_chr12_132425913 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425913G>A;NG_013039.1:g.17169G>A;NM_001002019.2:c.537G>A;NM_001002020.2:c.537G>A;NM_025215.5:c.621G>A;NP_001002019.1:p.Thr179=;NP_001002020.1:p.Thr179=;NP_079491.2:p.Thr207= 491055606 142044204 20110521_exome_563404_chr12_132425913 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132425941G>A;NG_013039.1:g.17197G>A;NM_001002019.2:c.565G>A;NM_001002020.2:c.565G>A;NM_025215.5:c.649G>A;NP_001002019.1:p.Val189Ile;NP_001002020.1:p.Val189Ile;NP_079491.2:p.Val217Ile 489011201 200591614 20110521_exome_180748_chr12_132425941 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 OMICIA 80324 NC_000012.10:g.130991903G>T NC_000012.11:g.132425950G>T;NG_013039.1:g.17206G>T;NM_001002019.2:c.574G>T;NM_001002020.2:c.574G>T;NM_025215.5:c.658G>T;NP_001002019.1:p.Glu192Ter;NP_001002020.1:p.Glu192Ter;NP_079491.2:p.Glu220Ter 244239173 104894372 2010_April_001_111_PUS1_608109_0002 germline probable-pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 80324 NP_079491.2:p.GLU220TER NC_000012.11:g.132425950G>T;NG_013039.1:g.17206G>T;NM_001002019.2:c.574G>T;NM_001002020.2:c.574G>T;NM_025215.5:c.658G>T;NP_001002019.1:p.Glu192Ter;NP_001002020.1:p.Glu192Ter;NP_079491.2:p.Glu220Ter 253285665 104894372 15519 germline probable-pathogenic 2010.08.18 2010.08.18 2010.05.28 2012.09.29 137 1000GENOMES 80324 NC_000012.11:g.132425958C>T;NG_013039.1:g.17214C>T;NM_001002019.2:c.582C>T;NM_001002020.2:c.582C>T;NM_025215.5:c.666C>T;NP_001002019.1:p.Tyr194=;NP_001002020.1:p.Tyr194=;NP_079491.2:p.Tyr222= 489011203 200130591 20110521_exome_180749_chr12_132425958 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132425971G>A;NG_013039.1:g.17227G>A;NM_001002019.2:c.595G>A;NM_001002020.2:c.595G>A;NM_025215.5:c.679G>A;NP_001002019.1:p.Glu199Lys;NP_001002020.1:p.Glu199Lys;NP_079491.2:p.Glu227Lys 342371530 150144035 ESP2500-chr12-132425971 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132425971G>A;NG_013039.1:g.17227G>A;NM_001002019.2:c.595G>A;NM_001002020.2:c.595G>A;NM_025215.5:c.679G>A;NP_001002019.1:p.Glu199Lys;NP_001002020.1:p.Glu199Lys;NP_079491.2:p.Glu227Lys 491476163 150144035 nonsyn_192389_chr_12_132425971 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426042G>A;NG_013039.1:g.17298G>A;NM_001002019.2:c.666G>A;NM_001002020.2:c.666G>A;NM_025215.5:c.750G>A;NP_001002019.1:p.Ser222=;NP_001002020.1:p.Ser222=;NP_079491.2:p.Ser250= 489011205 201884452 20110521_exome_180750_chr12_132426042 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426049G>C;NG_013039.1:g.17305G>C;NM_001002019.2:c.673G>C;NM_001002020.2:c.673G>C;NM_025215.5:c.757G>C;NP_001002019.1:p.Gly225Arg;NP_001002020.1:p.Gly225Arg;NP_079491.2:p.Gly253Arg 463214754 191299863 20101123_snps_9381984_chr12_132426049 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426049G>C;NG_013039.1:g.17305G>C;NM_001002019.2:c.673G>C;NM_001002020.2:c.673G>C;NM_025215.5:c.757G>C;NP_001002019.1:p.Gly225Arg;NP_001002020.1:p.Gly225Arg;NP_079491.2:p.Gly253Arg 491055607 191299863 20110521_exome_563405_chr12_132426049 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426096C>T;NG_013039.1:g.17352C>T;NM_001002019.2:c.720C>T;NM_001002020.2:c.720C>T;NM_025215.5:c.804C>T;NP_001002019.1:p.Cys240=;NP_001002020.1:p.Cys240=;NP_079491.2:p.Cys268= 489011207 200925842 20110521_exome_180751_chr12_132426096 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426113G>A;NG_013039.1:g.17369G>A;NM_001002019.2:c.737G>A;NM_001002020.2:c.737G>A;NM_025215.5:c.821G>A;NP_001002019.1:p.Arg246Gln;NP_001002020.1:p.Arg246Gln;NP_079491.2:p.Arg274Gln 342371531 138561555 ESP2500-chr12-132426113 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426121C>A;NG_013039.1:g.17377C>A;NM_001002019.2:c.745C>A;NM_001002020.2:c.745C>A;NM_025215.5:c.829C>A;NP_001002019.1:p.Leu249Met;NP_001002020.1:p.Leu249Met;NP_079491.2:p.Leu277Met 342371532 149324363 ESP2500-chr12-132426121 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426121C>A;NG_013039.1:g.17377C>A;NM_001002019.2:c.745C>A;NM_001002020.2:c.745C>A;NM_025215.5:c.829C>A;NP_001002019.1:p.Leu249Met;NP_001002020.1:p.Leu249Met;NP_079491.2:p.Leu277Met 463214755 149324363 20101123_snps_9381985_chr12_132426121 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426121C>A;NG_013039.1:g.17377C>A;NM_001002019.2:c.745C>A;NM_001002020.2:c.745C>A;NM_025215.5:c.829C>A;NP_001002019.1:p.Leu249Met;NP_001002020.1:p.Leu249Met;NP_079491.2:p.Leu277Met 491055608 149324363 20110521_exome_563406_chr12_132426121 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426121C>A;NG_013039.1:g.17377C>A;NM_001002019.2:c.745C>A;NM_001002020.2:c.745C>A;NM_025215.5:c.829C>A;NP_001002019.1:p.Leu249Met;NP_001002020.1:p.Leu249Met;NP_079491.2:p.Leu277Met 491476164 149324363 nonsyn_192390_chr_12_132426121 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426147G>A;NG_013039.1:g.17403G>A;NM_001002019.2:c.771G>A;NM_001002020.2:c.771G>A;NM_025215.5:c.855G>A;NP_001002019.1:p.Lys257=;NP_001002020.1:p.Lys257=;NP_079491.2:p.Lys285= 342371533 144648926 ESP2500-chr12-132426147 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426186C>T;NG_013039.1:g.17442C>T;NM_001002019.2:c.810C>T;NM_001002020.2:c.810C>T;NM_025215.5:c.894C>T;NP_001002019.1:p.Val270=;NP_001002020.1:p.Val270=;NP_079491.2:p.Val298= 491675836 201908893 SNV-chr12-130992139 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426196G>C;NG_013039.1:g.17452G>C;NM_001002019.2:c.820G>C;NM_001002020.2:c.820G>C;NM_025215.5:c.904G>C;NP_001002019.1:p.Val274Leu;NP_001002020.1:p.Val274Leu;NP_079491.2:p.Val302Leu 342371534 148057665 ESP2500-chr12-132426196 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132426218C>T;NG_013039.1:g.17474C>T;NM_001002019.2:c.842C>T;NM_001002020.2:c.842C>T;NM_025215.5:c.926C>T;NP_001002019.1:p.Ala281Val;NP_001002020.1:p.Ala281Val;NP_079491.2:p.Ala309Val 337720980 140275952 20100804_snps_9364521_chr12_132426218 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426218C>T;NG_013039.1:g.17474C>T;NM_001002019.2:c.842C>T;NM_001002020.2:c.842C>T;NM_025215.5:c.926C>T;NP_001002019.1:p.Ala281Val;NP_001002020.1:p.Ala281Val;NP_079491.2:p.Ala309Val 342371535 140275952 ESP2500-chr12-132426218 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426218C>T;NG_013039.1:g.17474C>T;NM_001002019.2:c.842C>T;NM_001002020.2:c.842C>T;NM_025215.5:c.926C>T;NP_001002019.1:p.Ala281Val;NP_001002020.1:p.Ala281Val;NP_079491.2:p.Ala309Val 491055609 140275952 20110521_exome_563407_chr12_132426218 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426218C>T;NG_013039.1:g.17474C>T;NM_001002019.2:c.842C>T;NM_001002020.2:c.842C>T;NM_025215.5:c.926C>T;NP_001002019.1:p.Ala281Val;NP_001002020.1:p.Ala281Val;NP_079491.2:p.Ala309Val 491476165 140275952 nonsyn_192391_chr_12_132426218 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426220C>T;NG_013039.1:g.17476C>T;NM_001002019.2:c.844C>T;NM_001002020.2:c.844C>T;NM_025215.5:c.928C>T;NP_001002019.1:p.Pro282Ser;NP_001002020.1:p.Pro282Ser;NP_079491.2:p.Pro310Ser 342371536 146053653 ESP2500-chr12-132426220 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426220C>T;NG_013039.1:g.17476C>T;NM_001002019.2:c.844C>T;NM_001002020.2:c.844C>T;NM_025215.5:c.928C>T;NP_001002019.1:p.Pro282Ser;NP_001002020.1:p.Pro282Ser;NP_079491.2:p.Pro310Ser 491476166 146053653 nonsyn_192392_chr_12_132426220 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426229G>A;NG_013039.1:g.17485G>A;NM_001002019.2:c.853G>A;NM_001002020.2:c.853G>A;NM_025215.5:c.937G>A;NP_001002019.1:p.Val285Met;NP_001002020.1:p.Val285Met;NP_079491.2:p.Val313Met 342371537 140088613 ESP2500-chr12-132426229 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426229G>A;NG_013039.1:g.17485G>A;NM_001002019.2:c.853G>A;NM_001002020.2:c.853G>A;NM_025215.5:c.937G>A;NP_001002019.1:p.Val285Met;NP_001002020.1:p.Val285Met;NP_079491.2:p.Val313Met 491476167 140088613 nonsyn_192393_chr_12_132426229 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426264C>T;NG_013039.1:g.17520C>T;NM_001002019.2:c.888C>T;NM_001002020.2:c.888C>T;NM_025215.5:c.972C>T;NP_001002019.1:p.Asp296=;NP_001002020.1:p.Asp296=;NP_079491.2:p.Asp324= 491675837 200065515 SNV-chr12-130992217 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426276G>A;NG_013039.1:g.17532G>A;NM_001002019.2:c.900G>A;NM_001002020.2:c.900G>A;NM_025215.5:c.984G>A;NP_001002019.1:p.Ala300=;NP_001002020.1:p.Ala300=;NP_079491.2:p.Ala328= 342371538 143660941 ESP2500-chr12-132426276 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426279C>T;NG_013039.1:g.17535C>T;NM_001002019.2:c.903C>T;NM_001002020.2:c.903C>T;NM_025215.5:c.987C>T;NP_001002019.1:p.Pro301=;NP_001002020.1:p.Pro301=;NP_079491.2:p.Pro329= 342371539 150880557 ESP2500-chr12-132426279 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426285C>T;NG_013039.1:g.17541C>T;NM_001002019.2:c.909C>T;NM_001002020.2:c.909C>T;NM_025215.5:c.993C>T;NP_001002019.1:p.Leu303=;NP_001002020.1:p.Leu303=;NP_079491.2:p.Leu331= 342371540 139335343 ESP2500-chr12-132426285 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426291G>C;NG_013039.1:g.17547G>C;NM_001002019.2:c.915G>C;NM_001002020.2:c.915G>C;NM_025215.5:c.999G>C;NP_001002019.1:p.Leu305=;NP_001002020.1:p.Leu305=;NP_079491.2:p.Leu333= 342371541 150359622 ESP2500-chr12-132426291 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426291G>C;NG_013039.1:g.17547G>C;NM_001002019.2:c.915G>C;NM_001002020.2:c.915G>C;NM_025215.5:c.999G>C;NP_001002019.1:p.Leu305=;NP_001002020.1:p.Leu305=;NP_079491.2:p.Leu333= 489011209 150359622 20110521_exome_180752_chr12_132426291 1.80e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426291G>C;NG_013039.1:g.17547G>C;NM_001002019.2:c.915G>C;NM_001002020.2:c.915G>C;NM_025215.5:c.999G>C;NP_001002019.1:p.Leu305=;NP_001002020.1:p.Leu305=;NP_079491.2:p.Leu333= 491675838 150359622 SNV-chr12-130992244 1.80e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426300G>A;NG_013039.1:g.17556G>A;NM_001002019.2:c.924G>A;NM_001002020.2:c.924G>A;NM_025215.5:c.1008G>A;NP_001002019.1:p.Glu308=;NP_001002020.1:p.Glu308=;NP_079491.2:p.Glu336= 342371542 145430883 ESP2500-chr12-132426300 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426300G>A;NG_013039.1:g.17556G>A;NM_001002019.2:c.924G>A;NM_001002020.2:c.924G>A;NM_025215.5:c.1008G>A;NP_001002019.1:p.Glu308=;NP_001002020.1:p.Glu308=;NP_079491.2:p.Glu336= 491675839 145430883 SNV-chr12-130992253 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426312C>T;NG_013039.1:g.17568C>T;NM_001002019.2:c.936C>T;NM_001002020.2:c.936C>T;NM_025215.5:c.1020C>T;NP_001002019.1:p.Phe312=;NP_001002020.1:p.Phe312=;NP_079491.2:p.Phe340= 489011211 202059921 20110521_exome_180753_chr12_132426312 1.80e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426313G>A;NG_013039.1:g.17569G>A;NM_001002019.2:c.937G>A;NM_001002020.2:c.937G>A;NM_025215.5:c.1021G>A;NP_001002019.1:p.Glu313Lys;NP_001002020.1:p.Glu313Lys;NP_079491.2:p.Glu341Lys 342371543 142624501 ESP2500-chr12-132426313 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426338A>G;NG_013039.1:g.17594A>G;NM_001002019.2:c.962A>G;NM_001002020.2:c.962A>G;NM_025215.5:c.1046A>G;NP_001002019.1:p.Asn321Ser;NP_001002020.1:p.Asn321Ser;NP_079491.2:p.Asn349Ser 491675840 200116696 SNV-chr12-130992291 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426339C>T;NG_013039.1:g.17595C>T;NM_001002019.2:c.963C>T;NM_001002020.2:c.963C>T;NM_025215.5:c.1047C>T;NP_001002019.1:p.Asn321=;NP_001002020.1:p.Asn321=;NP_079491.2:p.Asn349= 342371544 145061048 ESP2500-chr12-132426339 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132426346C>G;NG_013039.1:g.17602C>G;NM_001002019.2:c.970C>G;NM_001002020.2:c.970C>G;NM_025215.5:c.1054C>G;NP_001002019.1:p.Leu324Val;NP_001002020.1:p.Leu324Val;NP_079491.2:p.Leu352Val 489011213 201603339 20110521_exome_180754_chr12_132426346 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426357G>A;NC_000012.11:g.132426357G>T;NG_013039.1:g.17613G>A;NG_013039.1:g.17613G>T;NM_001002019.2:c.981G>A;NM_001002019.2:c.981G>T;NM_001002020.2:c.981G>A;NM_001002020.2:c.981G>T;NM_025215.5:c.1065G>A;NM_025215.5:c.1065G>T;NP_001002019.1:p.Pro327=;NP_001002020.1:p.Pro327=;NP_079491.2:p.Pro355= 342371545 147555676 ESP2500-chr12-132426357 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426357G>A;NC_000012.11:g.132426357G>T;NG_013039.1:g.17613G>A;NG_013039.1:g.17613G>T;NM_001002019.2:c.981G>A;NM_001002019.2:c.981G>T;NM_001002020.2:c.981G>A;NM_001002020.2:c.981G>T;NM_025215.5:c.1065G>A;NM_025215.5:c.1065G>T;NP_001002019.1:p.Pro327=;NP_001002020.1:p.Pro327=;NP_079491.2:p.Pro355= 491675841 147555676 SNV-chr12-130992310 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426360G>A;NG_013039.1:g.17616G>A;NM_001002019.2:c.984G>A;NM_001002020.2:c.984G>A;NM_025215.5:c.1068G>A;NP_001002019.1:p.Leu328=;NP_001002020.1:p.Leu328=;NP_079491.2:p.Leu356= 491675842 201753270 SNV-chr12-130992313 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426368C>T;NG_013039.1:g.17624C>T;NM_001002019.2:c.992C>T;NM_001002020.2:c.992C>T;NM_025215.5:c.1076C>T;NP_001002019.1:p.Ala331Val;NP_001002020.1:p.Ala331Val;NP_079491.2:p.Ala359Val 342371546 142072030 ESP2500-chr12-132426368 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426368C>T;NG_013039.1:g.17624C>T;NM_001002019.2:c.992C>T;NM_001002020.2:c.992C>T;NM_025215.5:c.1076C>T;NP_001002019.1:p.Ala331Val;NP_001002020.1:p.Ala331Val;NP_079491.2:p.Ala359Val 463214756 142072030 20101123_snps_9381986_chr12_132426368 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426368C>T;NG_013039.1:g.17624C>T;NM_001002019.2:c.992C>T;NM_001002020.2:c.992C>T;NM_025215.5:c.1076C>T;NP_001002019.1:p.Ala331Val;NP_001002020.1:p.Ala331Val;NP_079491.2:p.Ala359Val 491055610 142072030 20110521_exome_563408_chr12_132426368 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426368C>T;NG_013039.1:g.17624C>T;NM_001002019.2:c.992C>T;NM_001002020.2:c.992C>T;NM_025215.5:c.1076C>T;NP_001002019.1:p.Ala331Val;NP_001002020.1:p.Ala331Val;NP_079491.2:p.Ala359Val 491476168 142072030 nonsyn_192394_chr_12_132426368 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426369G>T;NG_013039.1:g.17625G>T;NM_001002019.2:c.993G>T;NM_001002020.2:c.993G>T;NM_025215.5:c.1077G>T;NP_001002019.1:p.Ala331=;NP_001002020.1:p.Ala331=;NP_079491.2:p.Ala359= 342371547 143053373 ESP2500-chr12-132426369 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426388G>A;NG_013039.1:g.17644G>A;NM_001002019.2:c.1012G>A;NM_001002020.2:c.1012G>A;NM_025215.5:c.1096G>A;NP_001002019.1:p.Ala338Thr;NP_001002020.1:p.Ala338Thr;NP_079491.2:p.Ala366Thr 342371548 148218985 ESP2500-chr12-132426388 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426409A>G;NG_013039.1:g.17665A>G;NM_001002019.2:c.1033A>G;NM_001002020.2:c.1033A>G;NM_025215.5:c.1117A>G;NP_001002019.1:p.Ile345Val;NP_001002020.1:p.Ile345Val;NP_079491.2:p.Ile373Val 342371549 140337752 ESP2500-chr12-132426409 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132426421A>G;NG_013039.1:g.17677A>G;NM_001002019.2:c.1045A>G;NM_001002020.2:c.1045A>G;NM_025215.5:c.1129A>G;NP_001002019.1:p.Ile349Val;NP_001002020.1:p.Ile349Val;NP_079491.2:p.Ile377Val 489011215 200292016 20110521_exome_180755_chr12_132426421 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426432C>T;NG_013039.1:g.17688C>T;NM_001002019.2:c.1056C>T;NM_001002020.2:c.1056C>T;NM_025215.5:c.1140C>T;NP_001002019.1:p.Thr352=;NP_001002020.1:p.Thr352=;NP_079491.2:p.Thr380= 337720982 138198591 20100804_snps_9364523_chr12_132426432 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426432C>T;NG_013039.1:g.17688C>T;NM_001002019.2:c.1056C>T;NM_001002020.2:c.1056C>T;NM_025215.5:c.1140C>T;NP_001002019.1:p.Thr352=;NP_001002020.1:p.Thr352=;NP_079491.2:p.Thr380= 342371550 138198591 ESP2500-chr12-132426432 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426432C>T;NG_013039.1:g.17688C>T;NM_001002019.2:c.1056C>T;NM_001002020.2:c.1056C>T;NM_025215.5:c.1140C>T;NP_001002019.1:p.Thr352=;NP_001002020.1:p.Thr352=;NP_079491.2:p.Thr380= 491055611 138198591 20110521_exome_563409_chr12_132426432 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426432C>T;NG_013039.1:g.17688C>T;NM_001002019.2:c.1056C>T;NM_001002020.2:c.1056C>T;NM_025215.5:c.1140C>T;NP_001002019.1:p.Thr352=;NP_001002020.1:p.Thr352=;NP_079491.2:p.Thr380= 491675843 138198591 SNV-chr12-130992385 1.40e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426442G>A;NG_013039.1:g.17698G>A;NM_001002019.2:c.1066G>A;NM_001002020.2:c.1066G>A;NM_025215.5:c.1150G>A;NP_001002019.1:p.Glu356Lys;NP_001002020.1:p.Glu356Lys;NP_079491.2:p.Glu384Lys 342371551 138150733 ESP2500-chr12-132426442 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426465G>A;NG_013039.1:g.17721G>A;NM_001002019.2:c.1089G>A;NM_001002020.2:c.1089G>A;NM_025215.5:c.1173G>A;NP_001002019.1:p.Leu363=;NP_001002020.1:p.Leu363=;NP_079491.2:p.Leu391= 342371552 142637371 ESP2500-chr12-132426465 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 APPLERA_GI 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 48411116 35461276 hCV25953392 5.00e-04 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 75004163 35461276 ILMN_Human_1M_rs35461276 5.00e-04 2007.08.29 2007.08.29 2006.03.15 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 119916813 35461276 KHS1916596 5.00e-04 2009.02.05 2009.02.05 2006.03.15 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 173601020 35461276 Human1M-Duov3_B_rs35461276-126_B_F_1513975396 5.00e-04 2009.10.04 2009.10.04 2006.03.15 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 337720983 35461276 20100804_snps_9364524_chr12_132426489 5.00e-04 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 342371553 35461276 ESP2500-chr12-132426489 5.00e-04 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426489C>T;NG_013039.1:g.17745C>T;NM_001002019.2:c.1113C>T;NM_001002020.2:c.1113C>T;NM_025215.5:c.1197C>T;NP_001002019.1:p.Phe371=;NP_001002020.1:p.Phe371=;NP_079491.2:p.Phe399= 491675844 35461276 SNV-chr12-130992442 5.00e-04 2012.03.06 2012.03.12 2006.03.15 2012.11.28 137 NHLBI-ESP 80324 NC_000012.11:g.132426498C>T;NG_013039.1:g.17754C>T;NM_001002019.2:c.1122C>T;NM_001002020.2:c.1122C>T;NM_025215.5:c.1206C>T;NP_001002019.1:p.Thr374=;NP_001002020.1:p.Thr374=;NP_079491.2:p.Thr402= 342371554 138791193 ESP2500-chr12-132426498 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 80324 NC_000012.11:g.132426506C>T;NG_013039.1:g.17762C>T;NM_001002019.2:c.1130C>T;NM_001002020.2:c.1130C>T;NM_025215.5:c.1214C>T;NP_001002019.1:p.Thr377Met;NP_001002020.1:p.Thr377Met;NP_079491.2:p.Thr405Met 342371555 149378338 ESP2500-chr12-132426506 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426506C>T;NG_013039.1:g.17762C>T;NM_001002019.2:c.1130C>T;NM_001002020.2:c.1130C>T;NM_025215.5:c.1214C>T;NP_001002019.1:p.Thr377Met;NP_001002020.1:p.Thr377Met;NP_079491.2:p.Thr405Met 463214757 149378338 20101123_snps_9381987_chr12_132426506 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426506C>T;NG_013039.1:g.17762C>T;NM_001002019.2:c.1130C>T;NM_001002020.2:c.1130C>T;NM_025215.5:c.1214C>T;NP_001002019.1:p.Thr377Met;NP_001002020.1:p.Thr377Met;NP_079491.2:p.Thr405Met 491055612 149378338 20110521_exome_563410_chr12_132426506 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 80324 NC_000012.11:g.132426506C>T;NG_013039.1:g.17762C>T;NM_001002019.2:c.1130C>T;NM_001002020.2:c.1130C>T;NM_025215.5:c.1214C>T;NP_001002019.1:p.Thr377Met;NP_001002020.1:p.Thr377Met;NP_079491.2:p.Thr405Met 491476169 149378338 nonsyn_192395_chr_12_132426506 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132426506C>T;NG_013039.1:g.17762C>T;NM_001002019.2:c.1130C>T;NM_001002020.2:c.1130C>T;NM_025215.5:c.1214C>T;NP_001002019.1:p.Thr377Met;NP_001002020.1:p.Thr377Met;NP_079491.2:p.Thr405Met 491675845 149378338 SNV-chr12-130992459 1.40e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426550T>G;NG_013039.1:g.17806T>G;NM_001002019.2:c.1152+22T>G;NM_001002020.2:c.1152+22T>G;NM_025215.5:c.1236+22T>G 226048959 116218101 pilot_1_YRI_7858642_chr12_130992503 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426550T>G;NG_013039.1:g.17806T>G;NM_001002019.2:c.1152+22T>G;NM_001002020.2:c.1152+22T>G;NM_025215.5:c.1236+22T>G 491055613 116218101 20110521_exome_563411_chr12_132426550 1.40e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426599G>C;NG_013039.1:g.17855G>C;NM_001002019.2:c.1152+71G>C;NM_001002020.2:c.1152+71G>C;NM_025215.5:c.1236+71G>C 463214758 186871900 20101123_snps_9381988_chr12_132426599 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132426613A>G;NG_013039.1:g.17869A>G;NM_001002019.2:c.1152+85A>G;NM_001002020.2:c.1152+85A>G;NM_025215.5:c.1236+85A>G 337720984 145718482 20100804_snps_9364525_chr12_132426613 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 80324 NC_000012.11:g.132426625_132426626insC;NG_013039.1:g.17881_17882insC;NM_001002019.2:c.1152+97_1152+98insC;NM_001002020.2:c.1152+97_1152+98insC;NM_025215.5:c.1236+97_1236+98insC 40235928 34642568 hCV32422792 2005.07.16 2005.07.16 2006.03.14 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132426630G>A;NG_013039.1:g.17886G>A;NM_001002019.2:c.1152+102G>A;NM_001002020.2:c.1152+102G>A;NM_025215.5:c.1236+102G>A 337720985 138670684 20100804_snps_9364526_chr12_132426630 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132426631C>A;NG_013039.1:g.17887C>A;NM_001002019.2:c.1152+103C>A;NM_001002020.2:c.1152+103C>A;NM_025215.5:c.1236+103C>A 226048960 115537571 pilot_1_YRI_7858643_chr12_130992584 1.56e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BL 80324 NC_000012.11:g.132426631C>A;NG_013039.1:g.17887C>A;NM_001002019.2:c.1152+103C>A;NM_001002020.2:c.1152+103C>A;NM_025215.5:c.1236+103C>A 255400721 115537571 SNP145222_12_130992584 1.56e-02 2010.08.20 2010.08.20 2010.07.14 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132426708T>G;NG_013039.1:g.17964T>G;NM_001002019.2:c.1152+180T>G;NM_001002020.2:c.1152+180T>G;NM_025215.5:c.1236+180T>G 337720986 149262561 20100804_snps_9364527_chr12_132426708 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 80324 NC_000012.11:g.132426732G>C;NG_013039.1:g.17988G>C;NM_001002019.2:c.1152+204G>C;NM_001002020.2:c.1152+204G>C;NM_025215.5:c.1236+204G>C 198895563 113658598 BUSHMAN-chr12-130992684 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132426840C>T;NG_013039.1:g.18096C>T;NM_001002019.2:c.1152+312C>T;NM_001002020.2:c.1152+312C>T;NM_025215.5:c.1236+312C>T 463214759 190176117 20101123_snps_9381989_chr12_132426840 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132426949_132426950insT;NG_013039.1:g.18205_18206insT;NM_001002019.2:c.1152+421_1152+422insT;NM_001002020.2:c.1152+421_1152+422insT;NM_025215.5:c.1236+421_1236+422insT 328047593 143876811 YRI_chr12_130992905_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 ILLUMINA 80324 NC_000012.11:g.132426963G>T;NG_013039.1:g.18219G>T;NM_001002019.2:c.1152+435G>T;NM_001002020.2:c.1152+435G>T;NM_025215.5:c.1236+435G>T 481746159 199975735 HumanOmni2.5-4v1_D_kgp18853223-0_B_F_1829350358 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132426963G>T;NG_013039.1:g.18219G>T;NM_001002019.2:c.1152+435G>T;NM_001002020.2:c.1152+435G>T;NM_025215.5:c.1236+435G>T 483025992 199975735 HumanOmni2.5-4v1_B_SNP12-130992916-0_B_F_1624095682 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132426986C>G;NG_013039.1:g.18242C>G;NM_001002019.2:c.1152+458C>G;NM_001002020.2:c.1152+458C>G;NM_025215.5:c.1236+458C>G 463214760 181429391 20101123_snps_9381990_chr12_132426986 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427012C>T;NG_013039.1:g.18268C>T;NM_001002019.2:c.1152+484C>T;NM_001002020.2:c.1152+484C>T;NM_025215.5:c.1236+484C>T 337720987 144507935 20100804_snps_9364528_chr12_132427012 1.60e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 12226665 7980377 chr12.NT_035243.4_396886 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 15677322 7980377 NT_035243.4_396886 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 20972809 7980377 WGSA-200403-chr12.chr12.NT_035243.4_396886 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 77306270 7980377 Cor12156_SNV_20070510.chr12_131093330 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 82535363 7980377 Cor18956_SNV_20070510.chr12_131093330 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 84824500 7980377 Cor19129_SNV_20070510.chr12_131093330 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 89487645 7980377 JWB-0631290 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 133445717 7980377 ENSSNP10705329 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 137530566 7980377 ENSSNP698464 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132427100C>T;NG_013039.1:g.18356C>T;NM_001002019.2:c.1152+572C>T;NM_001002020.2:c.1152+572C>T;NM_025215.5:c.1236+572C>T 291375328 7980377 SNP_881686_chr12_130993053 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 WI_SSAHASNP 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 12184124 7957652 chr12.NT_035243.4_396887 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 15677323 7957652 NT_035243.4_396887 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 20903046 7957652 WGSA-200403-chr12.chr12.NT_035243.4_396887 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 77583613 7957652 Cor12156_SNV_20070510.chr12_131093331 2007.10.13 2007.10.13 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 83658552 7957652 Cor18956_SNV_20070510.chr12_131093331 2007.12.05 2007.12.05 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 85550866 7957652 Cor19129_SNV_20070510.chr12_131093331 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 89487649 7957652 JWB-0631291 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132427101delAinsCA;NC_000012.11:g.132427101delAinsTG;NG_013039.1:g.18357delAinsCA;NG_013039.1:g.18357delAinsTG;NM_001002019.2:c.1152+573delAinsCA;NM_001002019.2:c.1152+573delAinsTG;NM_001002020.2:c.1152+573delAinsCA;NM_001002020.2:c.1152+573delAinsTG;NM_025215.5:c.1236+573delAinsCA;NM_025215.5:c.1236+573delAinsTG 97198280 71433385 1103649579679 2008.03.28 2008.03.28 2009.02.13 2011.07.08 137 ENSEMBL 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 133445721 7957652 ENSSNP10705330 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 137530563 7957652 ENSSNP698465 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 291375329 7957652 SNP_881687_chr12_130993054 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132427101A>G;NG_013039.1:g.18357A>G;NM_001002019.2:c.1152+573A>G;NM_001002020.2:c.1152+573A>G;NM_025215.5:c.1236+573A>G 475789752 7957652 GMI_AK_SNP_8458250 2011.11.24 2011.11.24 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427141T>C;NG_013039.1:g.18397T>C;NM_001002019.2:c.1152+613T>C;NM_001002020.2:c.1152+613T>C;NM_025215.5:c.1236+613T>C 337720988 148437933 20100804_snps_9364529_chr12_132427141 1.14e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132427146T>G;NG_013039.1:g.18402T>G;NM_001002019.2:c.1152+618T>G;NM_001002020.2:c.1152+618T>G;NM_025215.5:c.1236+618T>G 463214761 186534753 20101123_snps_9381991_chr12_132427146 1.16e-01 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427153A>G;NG_013039.1:g.18409A>G;NM_001002019.2:c.1152+625A>G;NM_001002020.2:c.1152+625A>G;NM_025215.5:c.1236+625A>G 337720989 141940441 20100804_snps_9364530_chr12_132427153 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132427172T>C;NG_013039.1:g.18428T>C;NM_001002019.2:c.1152+644T>C;NM_001002020.2:c.1152+644T>C;NM_025215.5:c.1236+644T>C 337720990 146137058 20100804_snps_9364531_chr12_132427172 1.65e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132427193C>T;NG_013039.1:g.18449C>T;NM_001002019.2:c.1152+665C>T;NM_001002020.2:c.1152+665C>T;NM_025215.5:c.1236+665C>T 463214762 190056988 20101123_snps_9381992_chr12_132427193 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427197C>T;NG_013039.1:g.18453C>T;NM_001002019.2:c.1152+669C>T;NM_001002020.2:c.1152+669C>T;NM_025215.5:c.1236+669C>T 463214763 180931117 20101123_snps_9381993_chr12_132427197 1.05e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427202T>C;NG_013039.1:g.18458T>C;NM_001002019.2:c.1152+674T>C;NM_001002020.2:c.1152+674T>C;NM_025215.5:c.1236+674T>C 463214764 185203983 20101123_snps_9381994_chr12_132427202 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427225A>G;NG_013039.1:g.18481A>G;NM_001002019.2:c.1152+697A>G;NM_001002020.2:c.1152+697A>G;NM_025215.5:c.1236+697A>G 463214765 191153292 20101123_snps_9381995_chr12_132427225 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BL 80324 NC_000012.11:g.132427229T>G;NG_013039.1:g.18485T>G;NM_001002019.2:c.1152+701T>G;NM_001002020.2:c.1152+701T>G;NM_025215.5:c.1236+701T>G 255400724 150903555 SNP145223_12_130993182 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132427261C>T;NG_013039.1:g.18517C>T;NM_001002019.2:c.1152+733C>T;NM_001002020.2:c.1152+733C>T;NM_025215.5:c.1236+733C>T 463214766 183999904 20101123_snps_9381996_chr12_132427261 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132427408G>A;NG_013039.1:g.18664G>A;NM_001002019.2:c.1153-676G>A;NM_001002020.2:c.1153-676G>A;NM_025215.5:c.1237-676G>A 337720991 140157555 20100804_snps_9364532_chr12_132427408 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PJP 80324 NC_000012.11:g.132427711G>A;NG_013039.1:g.18967G>A;NM_001002019.2:c.1153-373G>A;NM_001002020.2:c.1153-373G>A;NM_025215.5:c.1237-373G>A 291375330 140233251 SNP_881688_chr12_130993664 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 WI_SSAHASNP 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 12180462 7955695 chr12.NT_035243.4_397521 2.01e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 15942608 7955695 NT_035243.4_397521 2.01e-02 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 16561383 7955695 CSHL-HuAA-200402.chr12.NT_035243.4_397521 2.01e-02 2004.02.17 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 20886861 7955695 WGSA-200403-chr12.chr12.NT_035243.4_397521 2.01e-02 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 77747805 7955695 Cor12156_SNV_20070510.chr12_131093965 2.01e-02 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 78682930 7955695 Cor12878_SNV_20070510.chr12_131093965 2.01e-02 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 86055067 7955695 Cor18956_SNV_20070510.chr12_131093965 2.01e-02 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 86056250 7955695 Cor18517_SNV_20070510.chr12_131093965 2.01e-02 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 89487652 7955695 JWB-0631292 2.01e-02 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 97265594 7955695 1103649579680 2.01e-02 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 105143388 7955695 BGI_rs7955695 2.01e-02 2008.08.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 112566366 7955695 CEU.trio.12.15.2008_2843595_chr12_130993688 2.01e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 114328851 7955695 NA19240_2008_12_16_2558347_chr12_130993688 2.01e-02 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 119802706 7955695 NA18507_000164996_NCBI36.1_chr12_130993688 2.01e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 133445723 7955695 ENSSNP6601070 2.01e-02 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 137530559 7955695 ENSSNP698466 2.01e-02 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 158081576 7955695 GMI_SNP_68640575 2.01e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 168799367 7955695 NA07022_36_chr12_130993688 2.01e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 171209472 7955695 NA19240_36_chr12_130993688 2.01e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 175316059 7955695 NA20431_36_chr12_130993688 2.01e-02 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 198895567 7955695 BUSHMAN-chr12-130993687 2.01e-02 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 208335626 7955695 BCM_CMT_1011-2406363 2.01e-02 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 226048963 7955695 pilot_1_YRI_7858646_chr12_130993688 2.01e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 236151429 7955695 pilot_1_CEU_5756058_chr12_130993688 2.01e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 242667712 7955695 pilot_1_CHB+JPT_4552789_chr12_130993688 2.01e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 255400726 7955695 SNP145224_12_130993688 2.01e-02 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 281611161 7955695 GMI_AK_SNP_5931550 2.01e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 291375331 7955695 SNP_881689_chr12_130993688 2.01e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 483025995 7955695 HumanOmni2.5-4v1_B_SNP12-130993688-0_T_R_1626818509 2.01e-02 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427735C>T;NG_013039.1:g.18991C>T;NM_001002019.2:c.1153-349C>T;NM_001002020.2:c.1153-349C>T;NM_025215.5:c.1237-349C>T 483974337 7955695 HumanOmni2.5-4v1_D_kgp7800171-0_T_R_1804780783 2.01e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 17476789 11837013 CSHL-HuCC-200402.chr12.NT_035243.4_397627 1.19e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 38902905 11837013 hCV315041 1.19e-01 2005.07.16 2006.11.02 2004.02.28 2012.11.28 137 AFFY 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 76768718 11837013 AFFY_6_1M_SNP_A-8630212 1.19e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 78462487 11837013 Cor12878_SNV_20070510.chr12_131094071 1.19e-01 2007.10.19 2007.10.19 2004.02.28 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 85768664 11837013 Cor18517_SNV_20070510.chr12_131094071 1.19e-01 2007.12.10 2007.12.10 2004.02.28 2012.11.28 137 KRIBB_YJKIM 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 105037388 11837013 KHS1429711 1.19e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 119802708 11837013 NA18507_000164997_NCBI36.1_chr12_130993794 1.19e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 160008950 11837013 HumanOmni1-Quad_v1-0_B_rs11837013-128_T_F_1572953024 1.19e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 161500012 11837013 ENSSNP698467 1.19e-01 2009.09.25 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 210832164 11837013 CEU.trio.3.2010_126116_chr12_130993794 1.19e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 226048964 11837013 pilot_1_YRI_7858647_chr12_130993794 1.19e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 236151430 11837013 pilot_1_CEU_5756059_chr12_130993794 1.19e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 242667713 11837013 pilot_1_CHB+JPT_4552790_chr12_130993794 1.19e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 281611162 11837013 GMI_AK_SNP_5931551 1.19e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 291375332 11837013 SNP_881690_chr12_130993794 1.19e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 480101568 11837013 HumanOmni1-Quad_v1-0_C_rs11837013-131_T_F_1863511453 1.19e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 483025998 11837013 HumanOmni2.5-4v1_B_SNP12-130993794-0_T_F_1619687314 1.19e-01 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132427841G>A;NG_013039.1:g.19097G>A;NM_001002019.2:c.1153-243G>A;NM_001002020.2:c.1153-243G>A;NM_025215.5:c.1237-243G>A 483594269 11837013 HumanOmni2.5-4v1_D_kgp5730336-0_T_F_1803146718 1.19e-01 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427873G>A;NG_013039.1:g.19129G>A;NM_001002019.2:c.1153-211G>A;NM_001002020.2:c.1153-211G>A;NM_025215.5:c.1237-211G>A 337720992 143908224 20100804_snps_9364533_chr12_132427873 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 12191102 7961398 chr12.NT_035243.4_397695 6.00e-03 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 15942609 7961398 NT_035243.4_397695 6.00e-03 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 16565831 7961398 CSHL-HuAA-200402.chr12.NT_035243.4_397695 6.00e-03 2004.02.17 2006.10.26 2003.07.11 2012.11.28 137 CSHL-HAPMAP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 17453058 7961398 CSHL-HuCC-200402.chr12.NT_035243.4_397695 6.00e-03 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 20933580 7961398 WGSA-200403-chr12.chr12.NT_035243.4_397695 6.00e-03 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 78729498 7961398 Cor12878_SNV_20070510.chr12_131094139 6.00e-03 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 84211539 7961398 Cor18555_SNV_20070510.chr12_131094139 6.00e-03 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 85870690 7961398 Cor19129_SNV_20070510.chr12_131094139 6.00e-03 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 86104100 7961398 Cor18956_SNV_20070510.chr12_131094139 6.00e-03 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 HGSV 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 86108019 7961398 Cor18517_SNV_20070510.chr12_131094139 6.00e-03 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 BCMHGSC_JDW 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 89487656 7961398 JWB-0631293 6.00e-03 2008.02.28 2008.02.28 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 97265595 7961398 1103649579681 6.00e-03 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 105143389 7961398 BGI_rs7961398 6.00e-03 2008.08.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 112566370 7961398 CEU.trio.12.15.2008_2843596_chr12_130993862 6.00e-03 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 114328857 7961398 NA19240_2008_12_16_2558348_chr12_130993862 6.00e-03 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 119802710 7961398 NA18507_000164998_NCBI36.1_chr12_130993862 6.00e-03 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 133445726 7961398 ENSSNP10705332 6.00e-03 2009.05.12 2009.05.14 2003.07.11 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 137530556 7961398 ENSSNP698468 6.00e-03 2009.05.16 2009.10.15 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 158081582 7961398 GMI_SNP_68636419 6.00e-03 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 168799372 7961398 NA07022_36_chr12_130993862 6.00e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 171209488 7961398 NA19240_36_chr12_130993862 6.00e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 198895572 7961398 BUSHMAN-chr12-130993861 6.00e-03 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 208359616 7961398 BCM_CMT_1011-2414582 6.00e-03 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 226048965 7961398 pilot_1_YRI_7858648_chr12_130993862 6.00e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 236151431 7961398 pilot_1_CEU_5756060_chr12_130993862 6.00e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 242667714 7961398 pilot_1_CHB+JPT_4552791_chr12_130993862 6.00e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 255400729 7961398 SNP145225_12_130993862 6.00e-03 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 281611163 7961398 GMI_AK_SNP_5931552 6.00e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 80324 NC_000012.11:g.132427909A>G;NG_013039.1:g.19165A>G;NM_001002019.2:c.1153-175A>G;NM_001002020.2:c.1153-175A>G;NM_025215.5:c.1237-175A>G 291375333 7961398 SNP_881691_chr12_130993862 6.00e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427939C>G;NG_013039.1:g.19195C>G;NM_001002019.2:c.1153-145C>G;NM_001002020.2:c.1153-145C>G;NM_025215.5:c.1237-145C>G 226048966 115682456 pilot_1_YRI_7858649_chr12_130993892 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132427992C>T;NG_013039.1:g.19248C>T;NM_001002019.2:c.1153-92C>T;NM_001002020.2:c.1153-92C>T;NM_025215.5:c.1237-92C>T 337720993 146775577 20100804_snps_9364534_chr12_132427992 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 80324 NC_000012.11:g.132428056T>C;NG_013039.1:g.19312T>C;NM_001002019.2:c.1153-28T>C;NM_001002020.2:c.1153-28T>C;NM_025215.5:c.1237-28T>C 491675846 200520936 SNV-chr12-130994009 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132428113G>A;NG_013039.1:g.19369G>A;NM_001002019.2:c.1182G>A;NM_001002020.2:c.1182G>A;NM_025215.5:c.1266G>A;NP_001002019.1:p.Gly394=;NP_001002020.1:p.Gly394=;NP_079491.2:p.Gly422= 491675847 201441662 SNV-chr12-130994066 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CLINSEQ_SNP 80324 NC_000012.11:g.132428135G>A;NG_013039.1:g.19391G>A;NM_001002019.2:c.*4G>A;NM_001002020.2:c.*4G>A;NM_025215.5:c.*4G>A 491675848 199498952 SNV-chr12-130994088 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428147C>T;NG_013039.1:g.19403C>T;NM_001002019.2:c.*16C>T;NM_001002020.2:c.*16C>T;NM_025215.5:c.*16C>T 226048967 116003934 pilot_1_YRI_7858650_chr12_130994100 1.56e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132428147C>T;NG_013039.1:g.19403C>T;NM_001002019.2:c.*16C>T;NM_001002020.2:c.*16C>T;NM_025215.5:c.*16C>T 481776983 116003934 HumanOmni2.5-4v1_D_kgp18970482-0_B_F_1829584869 1.56e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132428147C>T;NG_013039.1:g.19403C>T;NM_001002019.2:c.*16C>T;NM_001002020.2:c.*16C>T;NM_025215.5:c.*16C>T 483026001 116003934 HumanOmni2.5-4v1_B_SNP12-130994100-0_B_F_1643838193 1.56e-02 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428147C>T;NG_013039.1:g.19403C>T;NM_001002019.2:c.*16C>T;NM_001002020.2:c.*16C>T;NM_025215.5:c.*16C>T 491055614 116003934 20110521_exome_563412_chr12_132428147 1.56e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428250C>T;NG_013039.1:g.19506C>T;NM_001002019.2:c.*119C>T;NM_001002020.2:c.*119C>T;NM_025215.5:c.*119C>T 242667715 117705819 pilot_1_CHB+JPT_4552792_chr12_130994203 9.20e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132428250C>T;NG_013039.1:g.19506C>T;NM_001002019.2:c.*119C>T;NM_001002020.2:c.*119C>T;NM_025215.5:c.*119C>T 479761461 117705819 HumanOmni2.5-4v1_D_kgp11638161-0_T_R_1802740320 9.20e-03 2012.01.31 2012.01.31 2010.07.15 2012.11.28 137 ILLUMINA 80324 NC_000012.11:g.132428250C>T;NG_013039.1:g.19506C>T;NM_001002019.2:c.*119C>T;NM_001002020.2:c.*119C>T;NM_025215.5:c.*119C>T 483026004 117705819 HumanOmni2.5-4v1_B_SNP12-130994203-0_T_R_1629826883 9.20e-03 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428283A>T;NG_013039.1:g.19539A>T;NM_001002019.2:c.*152A>T;NM_001002020.2:c.*152A>T;NM_025215.5:c.*152A>T 463214767 188546423 20101123_snps_9381997_chr12_132428283 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 80324 NC_000012.11:g.132428299_132428300insT;NG_013039.1:g.19555_19556insT;NM_001002019.2:c.*168_*169insT;NM_001002020.2:c.*168_*169insT;NM_025215.5:c.*168_*169insT 99691696 71747211 INDEL_GP36_2007a_95253_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132428302G>A;NG_013039.1:g.19558G>A;NM_001002019.2:c.*171G>A;NM_001002020.2:c.*171G>A;NM_025215.5:c.*171G>A 337720994 139264390 20100804_snps_9364535_chr12_132428302 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132428331C>T;NG_013039.1:g.19587C>T;NM_001002019.2:c.*200C>T;NM_001002020.2:c.*200C>T;NM_025215.5:c.*200C>T 463214768 191843237 20101123_snps_9381998_chr12_132428331 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BL 80324 NC_000012.11:g.132428339T>C;NG_013039.1:g.19595T>C;NM_001002019.2:c.*208T>C;NM_001002020.2:c.*208T>C;NM_025215.5:c.*208T>C 255400731 148927836 SNP145226_12_130994292 3.70e-03 2010.08.20 2010.08.20 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132428339T>C;NG_013039.1:g.19595T>C;NM_001002019.2:c.*208T>C;NM_001002020.2:c.*208T>C;NM_025215.5:c.*208T>C 337720995 148927836 20100804_snps_9364536_chr12_132428339 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 80324 NC_000012.11:g.132428345G>T;NG_013039.1:g.19601G>T;NM_001002019.2:c.*214G>T;NM_001002020.2:c.*214G>T;NM_025215.5:c.*214G>T 337720996 145240480 20100804_snps_9364537_chr12_132428345 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 80324 NC_000012.11:g.132428384G>C;NG_013039.1:g.19640G>C;NM_001002019.2:c.*253G>C;NM_001002020.2:c.*253G>C;NM_025215.5:c.*253G>C 81573882 59879353 Cor18555_SNV_20070510.chr12_131094614 8.20e-03 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428384G>C;NG_013039.1:g.19640G>C;NM_001002019.2:c.*253G>C;NM_001002020.2:c.*253G>C;NM_025215.5:c.*253G>C 337720997 59879353 20100804_snps_9364538_chr12_132428384 8.20e-03 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428645A>G;NG_013039.1:g.19901A>G;NM_001002019.2:c.*514A>G;NM_001002020.2:c.*514A>G;NM_025215.5:c.*514A>G 463214769 183247384 20101123_snps_9381999_chr12_132428645 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132428707G>A;NG_013039.1:g.19963G>A;NM_001002019.2:c.*576G>A;NM_001002020.2:c.*576G>A;NM_025215.5:c.*576G>A 337720998 146983600 20100804_snps_9364539_chr12_132428707 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 80324 NC_000012.11:g.132428756A>C;NG_013039.1:g.20012A>C;NM_001002019.2:c.*625A>C;NM_001002020.2:c.*625A>C;NM_025215.5:c.*625A>C 133445729 78403507 ENSSNP10705333 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 GMI 80324 NC_000012.11:g.132428764A>C;NG_013039.1:g.20020A>C;NM_001002019.2:c.*633A>C;NM_001002020.2:c.*633A>C;NM_025215.5:c.*633A>C 281611165 200708915 GMI_AK_SNP_5931554 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 80324 NC_000012.11:g.132428813C>T;NG_013039.1:g.20069C>T;NM_001002019.2:c.*682C>T;NM_001002020.2:c.*682C>T;NM_025215.5:c.*682C>T 463214770 187053395 20101123_snps_9382000_chr12_132428813 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 80324 NC_000012.11:g.132428825G>C;NG_013039.1:g.20081G>C;NM_001002019.2:c.*694G>C;NM_001002020.2:c.*694G>C;NM_025215.5:c.*694G>C 463214771 191528818 20101123_snps_9382001_chr12_132428825 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 80324 NC_000012.11:g.132428855T>C;NG_013039.1:g.20111T>C;NM_001002019.2:c.*724T>C;NM_001002020.2:c.*724T>C;NM_025215.5:c.*724T>C 89487661 61942451 JWB-2839740 2.79e-02 2008.02.28 2008.02.28 2008.03.24 2012.11.28 137 ENSEMBL 80324 NC_000012.11:g.132428855T>C;NG_013039.1:g.20111T>C;NM_001002019.2:c.*724T>C;NM_001002020.2:c.*724T>C;NM_025215.5:c.*724T>C 133445732 61942451 ENSSNP10705334 2.79e-02 2009.05.12 2009.05.14 2008.03.24 2012.11.28 137 BCM-HGSC-SUB 80324 NC_000012.11:g.132428855T>C;NG_013039.1:g.20111T>C;NM_001002019.2:c.*724T>C;NM_001002020.2:c.*724T>C;NM_025215.5:c.*724T>C 208409007 61942451 BCM_CMT_1011-2431154 2.79e-02 2010.03.19 2010.03.19 2008.03.24 2012.11.28 137 1000GENOMES 80324 NC_000012.11:g.132428855T>C;NG_013039.1:g.20111T>C;NM_001002019.2:c.*724T>C;NM_001002020.2:c.*724T>C;NM_025215.5:c.*724T>C 337721000 61942451 20100804_snps_9364541_chr12_132428855 2.79e-02 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 PJP 80324 NC_000012.11:g.132428877_132428878insG;NG_013039.1:g.20133_20134insG;NM_001002019.2:c.*746_*747insG;NM_001002020.2:c.*746_*747insG;NM_025215.5:c.*746_*747insG 294783824 142762823 DIP_221528_chr12_130994830 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 80324 NC_000012.11:g.132428898A>C;NG_013039.1:g.20154A>C;NM_001002019.2:c.*767A>C;NM_001002020.2:c.*767A>C;NM_025215.5:c.*767A>C 337721001 146197755 20100804_snps_9364542_chr12_132428898 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 # Report date: 2013.2.9, Gene: PUS1 (80324), ss count: 1192, rs count: 330.