# 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 4352 328564564 138045842 20100804_snps_208100_chr1_43801620 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016106 191859043 20101123_snps_183336_chr1_43801672 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564565 142523149 20100804_snps_208101_chr1_43801705 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564566 145971265 20100804_snps_208102_chr1_43801789 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016107 184623493 20101123_snps_183337_chr1_43801825 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DEVINE_LAB 4352 NG_007525.1:g.3491_3492ins3;NT_032977.9:g.13773883_13773884ins3 100831724 67970477 INDEL_GP36_2008a_2865261_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NG_007525.1:g.3491_3492ins3;NT_032977.9:g.13773883_13773884ins3 101942292 67970477 INDEL_GP36_2008a_945647_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NG_007525.1:g.3491_3492ins3;NT_032977.9:g.13773883_13773884ins3 101942294 67970477 INDEL_GP36_2008a_945647_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 132 1000GENOMES 4352 454016108 188211569 20101123_snps_183338_chr1_43802033 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564567 138590938 20100804_snps_208103_chr1_43802143 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 HGSV 4352 NG_007525.1:g.3725C>A;NT_032977.9:g.13774117C>A 81796569 57135725 Cor18956_SNV_20070510.chr1_43471292 2007.12.01 2007.12.01 2007.12.14 2011.07.08 132 1000GENOMES 4352 NG_007525.1:g.3882T>G;NT_032977.9:g.13774274T>G 328564568 3754228 20100804_snps_208104_chr1_43802356 2.74e-03 2011.03.22 2011.03.22 2002.08.28 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.3882T>G;NT_032977.9:g.13774274T>G 75145440 3754228 ILMN_Human_1M_rs3754228 2.74e-03 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.3882T>G;NT_032977.9:g.13774274T>G 173625112 3754228 Human1M-Duov3_B_rs3754228-107_T_R_1514103338 2.74e-03 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 KRIBB_YJKIM 4352 NG_007525.1:g.3882T>G;NT_032977.9:g.13774274T>G 119460116 3754228 KHS1622363 2.74e-03 2009.02.04 2009.02.04 2002.08.28 2011.09.09 132 YUSUKE 4352 NG_007525.1:g.3882T>G;NT_032977.9:g.13774274T>G 4940259 3754228 IMS-JST107214 2.74e-03 2002.08.01 2006.10.25 2002.08.28 2011.09.09 132 1000GENOMES 4352 328564569 150715346 20100804_snps_208105_chr1_43802388 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564570 139425898 20100804_snps_208106_chr1_43802456 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016109 192502408 20101123_snps_183339_chr1_43802534 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NG_007525.1:g.4140C>T;NT_032977.9:g.13774532C>T 218349673 75744657 pilot_1_YRI_159356_chr1_43575201 2.10e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 4352 328564572 147316743 20100804_snps_208108_chr1_43802732 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4303T>A;NT_032977.9:g.13774695T>A 328564573 12062240 20100804_snps_208109_chr1_43802777 2.29e-03 2011.03.22 2011.03.22 2004.02.28 2011.10.06 132 SC_SNP 4352 NG_007525.1:g.4303T>A;NT_032977.9:g.13774695T>A 18145399 12062240 SC-CHR1_NA17109-200402.chr1.NT_032977.6_5409224 2.29e-03 2004.02.20 2004.03.04 2004.02.28 2011.10.06 132 1000GENOMES 4352 328564574 144774849 20100804_snps_208110_chr1_43802786 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564575 147915833 20100804_snps_208111_chr1_43802976 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564576 148952267 20100804_snps_208112_chr1_43802995 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016110 184424095 20101123_snps_183340_chr1_43803116 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 110359185 839993 NA19240_2008_12_16_51512_chr1_43575707 2.84e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 210449943 839993 CEU.trio.3.2010_2934_chr1_43575707 2.84e-01 2010.03.29 2010.03.29 2000.10.05 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 218349674 839993 pilot_1_YRI_159357_chr1_43575707 2.84e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 230509341 839993 pilot_1_CEU_113970_chr1_43575707 2.84e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 238208548 839993 pilot_1_CHB+JPT_93625_chr1_43575707 2.84e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 41157762 839993 hCV1770464 2.84e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 BCM-HGSC-SUB 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 205326011 839993 BCM_CMT_1011-142506 2.84e-01 2010.03.15 2010.03.15 2000.10.05 2011.09.09 132 BGI 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 106563016 839993 BGI_rs839993 2.84e-01 2008.09.16 2009.06.16 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 163323281 839993 NA19240_36_chr1_43575707 2.84e-01 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 164182255 839993 NA07022_36_chr1_43575707 2.84e-01 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 CSHL-HAPMAP 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 16420927 839993 CSHL-HuAA-200402.chr1.NT_032977.6_5409567 2.84e-01 2004.02.17 2004.03.04 2000.10.05 2011.09.09 132 CSHL-HAPMAP 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 19123120 839993 CSHL-HuDD-200402.chr1.NT_032977.6_5409567 2.84e-01 2004.02.20 2004.03.04 2000.10.05 2011.09.09 132 ENSEMBL 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 161253826 839993 ENSSNP223146 2.84e-01 2009.09.24 2009.09.24 2000.10.05 2011.09.09 132 HGSV 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 77374919 839993 Cor12156_SNV_20070510.chr1_43472213 2.84e-01 2007.10.10 2007.10.12 2000.10.05 2011.09.09 132 HGSV 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 78264331 839993 Cor12878_SNV_20070510.chr1_43472213 2.84e-01 2007.10.18 2007.10.18 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 65753898 839993 Human1-rs839993 2.84e-01 2006.10.10 2006.10.10 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 68020879 839993 HumanHap650Yv1.0_rs839993 2.84e-01 2006.11.15 2006.11.15 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 71585503 839993 HumanHap650Yv3.0_rs839993 2.84e-01 2007.04.23 2007.04.23 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 75339291 839993 ILMN_Human_1M_rs839993 2.84e-01 2007.08.29 2007.08.29 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 160956916 839993 HumanOmni1-Quad_v1-0_B_rs839993-128_B_R_1502394172 2.84e-01 2009.08.07 2009.10.05 2000.10.05 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 174745150 839993 Human1M-Duov3_B_rs839993-128_B_R_1502394172 2.84e-01 2009.10.05 2009.10.05 2000.10.05 2011.09.09 132 KRIBB_YJKIM 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 119369933 839993 KHS1532180 2.84e-01 2009.02.04 2009.02.04 2000.10.05 2011.09.09 132 KWOK 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 1179299 839993 OVLP-000804-582761 2.84e-01 2000.09.02 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 1706845 839993 OVLP-000925-545252 2.84e-01 2000.10.05 2006.10.25 2000.10.05 2011.09.09 132 PJP 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 290814203 839993 SNP_320561_chr1_43575707 2.84e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 SC_JCM 4352 NG_007525.1:g.4646C>A;NT_032977.9:g.13775038C>A 2614514 839993 AL354972.6_15442 2.84e-01 2000.11.03 2004.04.07 2000.10.05 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4686G>A;NT_032977.9:g.13775078G>A 218349675 112430569 pilot_1_YRI_159358_chr1_43575747 1.05e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 132 BUSHMAN 4352 NG_007525.1:g.4686G>A;NT_032977.9:g.13775078G>A 198369433 112430569 BUSHMAN-chr1-43575746 1.05e-02 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 NT_032977.9:g.13775085T>C 238208549 118091889 pilot_1_CHB+JPT_93626_chr1_43575754 5.94e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 454016111 189353354 20101123_snps_183341_chr1_43803176 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016112 181724591 20101123_snps_183342_chr1_43803192 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 108156352 710252 CEU.trio.12.15.2008_54135_chr1_43575809 2.55e-01 2008.12.15 2008.12.15 2000.10.04 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 218349676 710252 pilot_1_YRI_159359_chr1_43575809 2.55e-01 2010.04.22 2010.04.22 2000.10.04 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 230509342 710252 pilot_1_CEU_113971_chr1_43575809 2.55e-01 2010.05.01 2010.05.01 2000.10.04 2011.09.09 132 1000GENOMES 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 238208550 710252 pilot_1_CHB+JPT_93627_chr1_43575809 2.55e-01 2010.05.01 2010.05.01 2000.10.04 2011.09.09 132 ABI 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 41221100 710252 hCV1770463 2.55e-01 2005.07.17 2005.07.17 2000.10.04 2011.09.09 132 BCM-HGSC-SUB 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 205240864 710252 BCM_CMT_1011-100169 2.55e-01 2010.03.15 2010.03.15 2000.10.04 2011.09.09 132 BGI 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 106563017 710252 BGI_rs710252 2.55e-01 2008.09.16 2009.06.16 2000.10.04 2011.09.09 132 BUSHMAN 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 198369439 710252 BUSHMAN-chr1-43575808 2.55e-01 2010.03.06 2010.03.06 2000.10.04 2011.09.09 132 COMPLETE_GENOMICS 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 164182271 710252 NA07022_36_chr1_43575809 2.55e-01 2009.09.29 2009.09.29 2000.10.04 2011.09.09 132 CSHL-HAPMAP 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 16400780 710252 CSHL-HuAA-200402.chr1.NT_032977.6_5409669 2.55e-01 2004.02.17 2004.04.07 2000.10.04 2011.09.09 132 CSHL-HAPMAP 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 19108040 710252 CSHL-HuDD-200402.chr1.NT_032977.6_5409669 2.55e-01 2004.02.20 2004.03.04 2000.10.04 2011.09.09 132 ENSEMBL 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 161253828 710252 ENSSNP223147 2.55e-01 2009.09.24 2009.09.24 2000.10.04 2011.09.09 132 HGSV 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 77736176 710252 Cor12156_SNV_20070510.chr1_43472315 2.55e-01 2007.10.14 2007.10.14 2000.10.04 2011.09.09 132 HGSV 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 78663506 710252 Cor12878_SNV_20070510.chr1_43472315 2.55e-01 2007.10.20 2007.10.20 2000.10.04 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 65753167 710252 Human1-rs710252 2.55e-01 2006.10.10 2006.10.10 2000.10.04 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 74974227 710252 ILMN_Human_1M_rs710252 2.55e-01 2007.08.29 2007.08.29 2000.10.04 2011.09.09 132 ILLUMINA 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 174241660 710252 Human1M-Duov3_B_rs710252-128_B_R_1513945994 2.55e-01 2009.10.04 2009.10.04 2000.10.04 2011.09.09 132 KRIBB_YJKIM 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 119363956 710252 KHS1526203 2.55e-01 2009.02.04 2009.02.04 2000.10.04 2011.09.09 132 KWOK 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 1179300 710252 OVLP-000804-582762 2.55e-01 2000.09.02 2003.10.10 2000.10.04 2011.09.09 132 KWOK 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 1706846 710252 OVLP-000925-545253 2.55e-01 2000.10.05 2003.10.10 2000.10.04 2011.09.09 132 PERLEGEN 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 24262533 710252 afd0701272 2.55e-01 2004.08.21 2004.09.13 2000.10.04 2011.09.09 132 PJP 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 290814204 710252 SNP_320562_chr1_43575809 2.55e-01 2011.01.21 2011.01.21 2000.10.04 2011.09.09 132 SC_JCM 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 2598423 710252 AL139289.6_18481 2.55e-01 2000.11.03 2003.10.10 2000.10.04 2011.09.09 132 SI_EXO 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 71642694 710252 NT_032977.8_13775140 2.55e-01 2007.05.07 2008.03.31 2000.10.04 2011.09.09 132 TSC-CSHL 4352 NG_007525.1:g.4748G>A;NT_032977.9:g.13775140G>A 1350081 710252 TSC0199028 2.55e-01 2000.09.06 2003.10.10 2000.10.04 2011.09.09 132 1000GENOMES 4352 454016113 184408905 20101123_snps_183343_chr1_43803299 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NT_032977.9:g.13775283C>T 218349677 116691358 pilot_1_YRI_159360_chr1_43575952 5.48e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 328564577 142826341 20100804_snps_208113_chr1_43803413 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 4352 NG_007525.1:g.4987T>C;NT_032977.9:g.13775379T>C 198369443 111248552 BUSHMAN-chr1-43576047 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 454016114 188798468 20101123_snps_183344_chr1_43803524 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 4352 341959086 148327872 ESP2500-chr1-43803591 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959088 146249964 ESP2500-chr1-43803600 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.79+72G>C;NG_007525.1:g.5196G>C;NM_005373.2:c.79+72G>C;NT_032977.9:g.13775588G>C 218349678 762694 pilot_1_YRI_159361_chr1_43576257 5.48e-03 2010.04.22 2010.04.22 2000.10.05 2011.10.29 132 TSC-CSHL 4352 NM_005373.2:c.79+72G>C;NG_007525.1:g.5196G>C;NM_005373.2:c.79+72G>C;NT_032977.9:g.13775588G>C 136536 762694 TSC0116572 5.48e-03 2000.09.06 2003.10.10 2000.10.05 2011.10.29 132 1000GENOMES 4352 328564578 151030242 20100804_snps_208114_chr1_43803691 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564579 140919197 20100804_snps_208115_chr1_43803712 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.80-36G>A;NG_007525.1:g.5260G>A;NM_005373.2:c.80-36G>A;NT_032977.9:g.13775652G>A 198369448 113836314 BUSHMAN-chr1-43576320 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 4352 341959090 142697469 ESP2500-chr1-43803801 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 218349679 17292650 pilot_1_YRI_159362_chr1_43576394 1.14e-02 Germline probable-pathogenic 2010.04.22 2010.04.22 2004.09.20 2011.07.08 132 APPLERA_GI 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 48421157 17292650 hCV25599109 1.14e-02 Germline probable-pathogenic 2005.11.30 2006.11.03 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 74908412 17292650 ILMN_Human_1M_rs17292650 1.14e-02 Germline probable-pathogenic 2007.08.29 2007.08.29 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 160438366 17292650 HumanOmni1-Quad_v1-0_B_rs17292650-128_T_R_1513929314 1.14e-02 Germline probable-pathogenic 2009.08.06 2009.10.02 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 172803312 17292650 Human1M-Duov3_B_rs17292650-128_T_R_1513929314 1.14e-02 Germline probable-pathogenic 2009.10.02 2009.10.02 2004.09.20 2011.07.08 132 ILLUMINA-UK 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 118650865 17292650 NA18507_000049868_NCBI36.1_chr1_43576394 1.14e-02 Germline probable-pathogenic 2009.01.21 2009.01.21 2004.09.20 2011.07.08 132 KRIBB_YJKIM 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 119884135 17292650 KHS1897908 1.14e-02 Germline probable-pathogenic 2009.02.05 2009.02.05 2004.09.20 2011.07.08 132 MPDHOPKINS 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 24779593 17292650 SNP-1 1.14e-02 Germline probable-pathogenic 2004.06.10 2004.06.10 2004.09.20 2011.07.08 132 NHLBI-ESP 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 341959093 17292650 ESP2500-chr1-43803807 1.14e-02 Germline probable-pathogenic 2011.03.25 2011.03.25 2004.09.20 2011.07.08 132 OMICIA 4352 NC_000001.9:g.43576394G>T NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 169651542 17292650 2009_August_001_175_MPL_159530_0009 1.14e-02 Germline probable-pathogenic 2009.10.01 2009.11.05 2004.09.20 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NM_005373.2:c.117G>T NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 275515545 17292650 4173 1.14e-02 Germline probable-pathogenic 2010.11.24 2010.11.24 2004.09.20 2011.07.08 132 PERLEGEN 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 68764725 17292650 PGP17792404 1.14e-02 Germline probable-pathogenic 2007.01.30 2008.03.31 2004.09.20 2011.07.08 132 SEATTLESEQ 4352 NM_005373.2:c.117G>T;NG_007525.1:g.5333G>T;NP_005364.1:p.Lys39Asn;NM_005373.2:c.117G>T;NT_032977.9:g.13775725G>T;NP_005364.1:p.Lys39Asn 159697264 17292650 MPL-43576394 1.14e-02 Germline probable-pathogenic 2009.07.10 2009.07.10 2004.09.20 2011.07.08 132 NHLBI-ESP 4352 341959095 148434485 ESP2500-chr1-43803817 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959097 147938568 ESP2500-chr1-43803818 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959099 145714475 ESP2500-chr1-43803824 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 238208552 6087 pilot_1_CHB+JPT_93629_chr1_43576450 1.83e-03 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 AFFY 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 74807614 6087 SNP_M-178522 1.83e-03 2007.08.09 2007.08.09 2000.09.19 2011.10.06 132 ILLUMINA 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 74892226 6087 ILMN_Human_1M_rs6087 1.83e-03 2007.08.29 2007.08.29 2000.09.19 2011.10.06 132 ILLUMINA 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 160763952 6087 HumanOmni1-Quad_v1-0_B_rs6087-128_B_F_1513906896 1.83e-03 2009.08.07 2009.10.04 2000.09.19 2011.10.06 132 ILLUMINA 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 173978216 6087 Human1M-Duov3_B_rs6087-128_B_F_1513906896 1.83e-03 2009.10.04 2009.10.04 2000.09.19 2011.10.06 132 KRIBB_YJKIM 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 119337762 6087 KHS1500009 1.83e-03 2009.02.04 2009.02.04 2000.09.19 2011.10.06 132 PERLEGEN 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 68764726 6087 PGP04245890 1.83e-03 2007.01.30 2007.01.30 2000.09.19 2011.10.06 132 WIAF-CSNP 4352 NM_005373.2:c.173C>T;NT_032977.9:g.13775781C>T;NP_005364.1:p.Ala58Val 7704 6087 WIAF-11311 1.83e-03 1999.07.15 2004.04.07 2000.09.19 2011.10.06 132 NHLBI-ESP 4352 341959101 141077413 ESP2500-chr1-43803864 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 CANCER-GENOME 4352 NM_005373.2:c.209C>T;NG_007525.1:g.5425C>T;NP_005364.1:p.Pro70Leu;NM_005373.2:c.209C>T;NT_032977.9:g.13775817C>T;NP_005364.1:p.Pro70Leu 86351437 61754776 35375 2008.01.25 2008.01.25 2008.03.23 2011.07.08 132 NHLBI-ESP 4352 NM_005373.2:c.209C>T;NG_007525.1:g.5425C>T;NP_005364.1:p.Pro70Leu;NM_005373.2:c.209C>T;NT_032977.9:g.13775817C>T;NP_005364.1:p.Pro70Leu 341959103 61754776 ESP2500-chr1-43803899 2011.03.25 2011.03.25 2008.03.23 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.210G>A;NT_032977.9:g.13775818G>A 218349680 6086 pilot_1_YRI_159363_chr1_43576487 4.57e-03 2010.04.22 2010.04.22 2000.09.19 2011.10.06 132 ILLUMINA 4352 NM_005373.2:c.210G>A;NT_032977.9:g.13775818G>A 160763864 6086 HumanOmni1-Quad_v1-0_B_rs6086-128_B_R_1562590312 4.57e-03 2009.08.07 2009.10.04 2000.09.19 2011.10.06 132 NHLBI-ESP 4352 NM_005373.2:c.210G>A;NT_032977.9:g.13775818G>A 341959105 6086 ESP2500-chr1-43803900 4.57e-03 2011.03.25 2011.03.25 2000.09.19 2011.10.06 132 SEATTLESEQ 4352 NM_005373.2:c.210G>A;NT_032977.9:g.13775818G>A 159697265 6086 MPL-43576487 4.57e-03 2009.07.10 2009.07.10 2000.09.19 2011.10.06 132 WIAF-CSNP 4352 NM_005373.2:c.210G>A;NT_032977.9:g.13775818G>A 7703 6086 WIAF-11540 4.57e-03 1999.07.15 2003.10.10 2000.09.19 2011.10.06 132 NHLBI-ESP 4352 341959107 142565191 ESP2500-chr1-43803903 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 BUSHMAN 4352 NM_005373.2:c.212+62T>C;NG_007525.1:g.5490T>C;NM_005373.2:c.212+62T>C;NT_032977.9:g.13775882T>C 198369453 112382588 BUSHMAN-chr1-43576550 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 454016115 181772854 20101123_snps_183345_chr1_43804017 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.213-52delC;NG_007525.1:g.5687delC;NM_005373.2:c.213-52delC;NT_032977.9:g.13776079delC 41143926 34793878 hCV33269688 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.213-46G>C;NG_007525.1:g.5693G>C;NM_005373.2:c.213-46G>C;NT_032977.9:g.13776085G>C 454016116 762695 20101123_snps_183346_chr1_43804167 1.37e-03 2011.07.20 2011.07.20 2000.10.05 2011.10.06 132 TSC-CSHL 4352 NM_005373.2:c.213-46G>C;NG_007525.1:g.5693G>C;NM_005373.2:c.213-46G>C;NT_032977.9:g.13776085G>C 136537 762695 TSC0116573 1.37e-03 2000.09.06 2003.10.10 2000.10.05 2011.10.06 132 TSC-CSHL 4352 NM_005373.2:c.213-45C>G;NG_007525.1:g.5694C>G;NM_005373.2:c.213-45C>G;NT_032977.9:g.13776086C>G 136538 762696 TSC0116574 2000.09.06 2003.10.10 2000.10.05 2011.07.08 132 NHLBI-ESP 4352 341959109 148276667 ESP2500-chr1-43804224 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959111 150725726 ESP2500-chr1-43804261 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 NM_005373.2:c.305G>C;NG_007525.1:g.5831G>C;NP_005364.1:p.Arg102Pro;NM_005373.2:c.305G>C;NT_032977.9:g.13776223G>C;NP_005364.1:p.Arg102Pro 341959113 28928907 ESP2500-chr1-43804305 Germline probable-pathogenic 2011.03.25 2011.03.25 2005.05.24 2011.07.08 132 OMICIA 4352 NC_000001.9:g.43576892G>C NM_005373.2:c.305G>C;NG_007525.1:g.5831G>C;NP_005364.1:p.Arg102Pro;NM_005373.2:c.305G>C;NT_032977.9:g.13776223G>C;NP_005364.1:p.Arg102Pro 169650677 28928907 2009_August_001_173_MPL_159530_0005 Germline probable-pathogenic 2009.10.01 2009.11.05 2005.05.24 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.ARG102PRO NM_005373.2:c.305G>C;NG_007525.1:g.5831G>C;NP_005364.1:p.Arg102Pro;NM_005373.2:c.305G>C;NT_032977.9:g.13776223G>C;NP_005364.1:p.Arg102Pro 275515542 28928907 4169 Germline probable-pathogenic 2010.11.24 2010.11.24 2005.05.24 2011.07.08 132 OMIMSNP 4352 NM_005373.2:c.305G>C;NG_007525.1:g.5831G>C;NP_005364.1:p.Arg102Pro;NM_005373.2:c.305G>C;NT_032977.9:g.13776223G>C;NP_005364.1:p.Arg102Pro 38341706 28928907 OMIM_159530_0005 Germline probable-pathogenic 2005.05.17 2005.05.17 2005.05.24 2011.07.08 132 NHLBI-ESP 4352 341959115 140354935 ESP2500-chr1-43804306 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959117 145313814 ESP2500-chr1-43804313 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959119 142446401 ESP2500-chr1-43804339 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 230509343 12731981 pilot_1_CEU_113972_chr1_43576927 2.19e-02 2010.05.01 2010.05.01 2004.04.05 2011.09.09 132 ABI 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 43906801 12731981 hCV1770462 2.19e-02 2005.07.18 2006.11.03 2004.04.05 2011.09.09 132 AFFY 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 74817697 12731981 SNP_M-316171 2.19e-02 2007.08.09 2007.08.09 2004.04.05 2011.09.09 132 AFFY 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 76457896 12731981 AFFY_6_1M_SNP_A-8318722 2.19e-02 2007.08.30 2007.08.30 2004.04.05 2011.09.09 132 APPLERA_GI 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 48421156 12731981 hCV1770462 2.19e-02 2005.11.30 2006.11.03 2004.04.05 2011.09.09 132 CANCER-GENOME 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 86341940 12731981 13601 2.19e-02 2008.01.25 2008.01.25 2004.04.05 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 138960227 12731981 ENSSNP223148 2.19e-02 2009.05.18 2009.10.16 2004.04.05 2011.09.09 132 HUMANGENOME_JCVI 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 97933337 12731981 1103675079787 2.19e-02 2008.03.30 2008.03.30 2004.04.05 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 74855158 12731981 ILMN_Human_1M_rs12731981 2.19e-02 2007.08.29 2007.08.29 2004.04.05 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 160297422 12731981 HumanOmni1-Quad_v1-0_B_rs12731981-128_B_R_1513888493 2.19e-02 2009.08.06 2009.10.02 2004.04.05 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 172235148 12731981 Human1M-Duov3_B_rs12731981-128_B_R_1513888493 2.19e-02 2009.10.02 2009.10.02 2004.04.05 2011.09.09 132 KRIBB_YJKIM 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 119808925 12731981 KHS1854375 2.19e-02 2009.02.05 2009.02.05 2004.04.05 2011.09.09 132 NHLBI-ESP 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 341959121 12731981 ESP2500-chr1-43804340 2.19e-02 2011.03.25 2011.03.25 2004.04.05 2011.09.09 132 PERLEGEN 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 68764727 12731981 PGP06063099 2.19e-02 2007.01.30 2008.03.31 2004.04.05 2011.09.09 132 PJP 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 290814205 12731981 SNP_320563_chr1_43576927 2.19e-02 2011.01.21 2011.01.21 2004.04.05 2011.09.09 132 SSAHASNP 4352 NM_005373.2:c.340G>A;NG_007525.1:g.5866G>A;NP_005364.1:p.Val114Met;NM_005373.2:c.340G>A;NT_032977.9:g.13776258G>A;NP_005364.1:p.Val114Met 20474648 12731981 WGSA-200403-chr1.chr1.NT_032977.6_5410787 2.19e-02 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 328564581 839994 20100804_snps_208117_chr1_43804438 4.57e-03 2011.03.22 2011.03.22 2000.10.05 2011.09.09 132 ABI 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 43953666 839994 hCV8375525 4.57e-03 2005.07.18 2005.07.18 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 1179301 839994 OVLP-000804-582763 4.57e-03 2000.09.02 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 1706847 839994 OVLP-000925-545254 4.57e-03 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 1707302 839994 OVLP-000925-550513 4.57e-03 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 2618903 839994 AL356007.8_25649 4.57e-03 2000.11.03 2003.10.10 2000.10.05 2011.09.09 132 SC_SNP 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 13018537 839994 NT_004852.15_187081 4.57e-03 2003.10.22 2003.10.31 2000.10.05 2011.09.09 132 TSC-CSHL 4352 NM_005373.2:c.391+47C>T;NG_007525.1:g.5964C>T;NM_005373.2:c.391+47C>T;NT_032977.9:g.13776356C>T 2769583 839994 TSC0910778 4.57e-03 2001.01.03 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.391+168G>A;NT_032977.9:g.13776477G>A 238208553 116960519 pilot_1_CHB+JPT_93630_chr1_43577146 5.94e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.392-274G>T;NG_007525.1:g.6194G>T;NM_005373.2:c.392-274G>T;NT_032977.9:g.13776586G>T 218349681 77612379 pilot_1_YRI_159364_chr1_43577255 5.62e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.392-274G>T;NG_007525.1:g.6194G>T;NM_005373.2:c.392-274G>T;NT_032977.9:g.13776586G>T 230509344 77612379 pilot_1_CEU_113973_chr1_43577255 5.62e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.392-274G>T;NG_007525.1:g.6194G>T;NM_005373.2:c.392-274G>T;NT_032977.9:g.13776586G>T 238208554 77612379 pilot_1_CHB+JPT_93631_chr1_43577255 5.62e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 BUSHMAN 4352 NM_005373.2:c.392-274G>T;NG_007525.1:g.6194G>T;NM_005373.2:c.392-274G>T;NT_032977.9:g.13776586G>T 198369458 77612379 BUSHMAN-chr1-43577254 5.62e-02 2010.03.06 2010.03.06 2009.12.01 2011.07.08 132 TSC-CSHL 4352 NM_005373.2:c.392-148C>T;NG_007525.1:g.6320C>T;NM_005373.2:c.392-148C>T;NT_032977.9:g.13776712C>T 136539 2009719 TSC0116575 2002.09.21 2003.10.10 2001.01.23 2011.07.08 132 TSC-CSHL 4352 NM_005373.2:c.392-148C>T;NG_007525.1:g.6320C>T;NM_005373.2:c.392-148C>T;NT_032977.9:g.13776712C>T 2893937 2009719 TSC0081531 2001.01.03 2003.10.10 2001.01.23 2011.07.08 132 TSC-CSHL 4352 NM_005373.2:c.392-147T>C;NG_007525.1:g.6321T>C;NM_005373.2:c.392-147T>C;NT_032977.9:g.13776713T>C 136540 2009722 TSC0116576 2002.09.21 2003.10.10 2001.01.23 2011.07.08 132 TSC-CSHL 4352 NM_005373.2:c.392-147T>C;NG_007525.1:g.6321T>C;NM_005373.2:c.392-147T>C;NT_032977.9:g.13776713T>C 2893938 2009722 TSC0081532 2001.01.03 2003.10.10 2001.01.23 2011.07.08 132 NHLBI-ESP 4352 341959123 146579984 ESP2500-chr1-43804958 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959125 150145932 ESP2500-chr1-43805030 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.502G>A;NG_007525.1:g.6578G>A;NP_005364.1:p.Glu168Lys;NM_005373.2:c.502G>A;NT_032977.9:g.13776970G>A;NP_005364.1:p.Glu168Lys 74882811 6088 ILMN_Human_1M_rs6088 2007.08.29 2007.08.29 2000.09.19 2011.10.06 132 ILLUMINA 4352 NM_005373.2:c.502G>A;NG_007525.1:g.6578G>A;NP_005364.1:p.Glu168Lys;NM_005373.2:c.502G>A;NT_032977.9:g.13776970G>A;NP_005364.1:p.Glu168Lys 173978451 6088 Human1M-Duov3_B_rs6088-128_T_F_1513906902 2009.10.04 2009.10.04 2000.09.19 2011.10.06 132 KRIBB_YJKIM 4352 NM_005373.2:c.502G>A;NG_007525.1:g.6578G>A;NP_005364.1:p.Glu168Lys;NM_005373.2:c.502G>A;NT_032977.9:g.13776970G>A;NP_005364.1:p.Glu168Lys 119337763 6088 KHS1500010 2009.02.04 2009.02.04 2000.09.19 2011.10.06 132 WIAF-CSNP 4352 NM_005373.2:c.502G>A;NG_007525.1:g.6578G>A;NP_005364.1:p.Glu168Lys;NM_005373.2:c.502G>A;NT_032977.9:g.13776970G>A;NP_005364.1:p.Glu168Lys 7705 6088 WIAF-11243 1999.07.15 2004.04.07 2000.09.19 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 110359193 17572791 NA19240_2008_12_16_51513_chr1_43577680 3.20e-03 2008.12.17 2008.12.17 2004.09.20 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 218349682 17572791 pilot_1_YRI_159365_chr1_43577680 3.20e-03 2010.04.22 2010.04.22 2004.09.20 2011.07.08 132 APPLERA_GI 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 48421159 17572791 hCV25599119 3.20e-03 2005.11.30 2006.11.03 2004.09.20 2011.07.08 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 163323286 17572791 NA19240_36_chr1_43577680 3.20e-03 2009.09.29 2009.09.29 2004.09.20 2011.07.08 132 NHLBI-ESP 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 341959127 17572791 ESP2500-chr1-43805093 3.20e-03 2011.03.25 2011.03.25 2004.09.20 2011.07.08 132 PERLEGEN 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 24262548 17572791 afd0701274 3.20e-03 2004.08.21 2004.09.13 2004.09.20 2011.07.08 132 SEATTLESEQ 4352 NM_005373.2:c.543T>C;NG_007525.1:g.6619T>C;NM_005373.2:c.543T>C;NT_032977.9:g.13777011T>C 159697266 17572791 MPL-43577680 3.20e-03 2009.07.10 2009.07.10 2004.09.20 2011.07.08 132 NHLBI-ESP 4352 341959129 137952228 ESP2500-chr1-43805098 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959131 147130173 ESP2500-chr1-43805099 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.GLN186TER 275515539 121913610 4165 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 BUSHMAN 4352 NM_005373.2:c.622C>A;NG_007525.1:g.6698C>A;NP_005364.1:p.Gln208Lys;NM_005373.2:c.622C>A;NT_032977.9:g.13777090C>A;NP_005364.1:p.Gln208Lys 198369463 111460954 BUSHMAN-chr1-43577758 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 4352 341959133 142737453 ESP2500-chr1-43805205 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 328564582 141063159 20100804_snps_208118_chr1_43805227 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959135 141063159 ESP2500-chr1-43805227 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 218349683 16830693 pilot_1_YRI_159366_chr1_43577827 5.62e-02 2010.04.22 2010.04.22 2004.09.20 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 230509345 16830693 pilot_1_CEU_113974_chr1_43577827 5.62e-02 2010.05.01 2010.05.01 2004.09.20 2011.07.08 132 APPLERA_GI 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 48421160 16830693 hCV25599120 5.62e-02 2005.11.30 2006.11.03 2004.09.20 2011.07.08 132 BUSHMAN 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 198369468 16830693 BUSHMAN-chr1-43577826 5.62e-02 2010.03.06 2010.03.06 2004.09.20 2011.07.08 132 CANCER-GENOME 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 86341941 16830693 13605 5.62e-02 2008.01.25 2008.01.25 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 75059709 16830693 ILMN_Human_1M_rs16830693 5.62e-02 2007.08.29 2007.08.29 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 160384107 16830693 HumanOmni1-Quad_v1-0_B_rs16830693-128_B_R_1514032078 5.62e-02 2009.08.06 2009.10.02 2004.09.20 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 172620387 16830693 Human1M-Duov3_B_rs16830693-128_B_R_1514032078 5.62e-02 2009.10.02 2009.10.02 2004.09.20 2011.07.08 132 KRIBB_YJKIM 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 119841739 16830693 KHS1872727 5.62e-02 2009.02.05 2009.02.05 2004.09.20 2011.07.08 132 NHLBI-ESP 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 341959137 16830693 ESP2500-chr1-43805240 5.62e-02 2011.03.25 2011.03.25 2004.09.20 2011.07.08 132 PERLEGEN 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 23184580 16830693 afd0701275 5.62e-02 2004.08.20 2004.09.13 2004.09.20 2011.07.08 132 SI_EXO 4352 NM_005373.2:c.690A>G;NG_007525.1:g.6766A>G;NM_005373.2:c.690A>G;NT_032977.9:g.13777158A>G 52071838 16830693 NT_004511.17_13777158 5.62e-02 2006.03.29 2006.03.29 2004.09.20 2011.07.08 132 1000GENOMES 4352 328564583 144769485 20100804_snps_208119_chr1_43805251 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564584 138549219 20100804_snps_208120_chr1_43805359 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.690+135C>T;NG_007525.1:g.6901C>T;NM_005373.2:c.690+135C>T;NT_032977.9:g.13777293C>T 218349684 2840287 pilot_1_YRI_159367_chr1_43577962 1.14e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 132 ILLUMINA-UK 4352 NM_005373.2:c.690+135C>T;NG_007525.1:g.6901C>T;NM_005373.2:c.690+135C>T;NT_032977.9:g.13777293C>T 118650870 2840287 NA18507_000049869_NCBI36.1_chr1_43577962 1.14e-02 2009.01.21 2009.01.21 2001.09.28 2011.09.09 132 TSC-CSHL 4352 NM_005373.2:c.690+135C>T;NG_007525.1:g.6901C>T;NM_005373.2:c.690+135C>T;NT_032977.9:g.13777293C>T 4021703 2840287 TSC1231091 1.14e-02 2001.09.26 2003.10.10 2001.09.28 2011.09.09 132 TSC-CSHL 4352 NM_005373.2:c.690+135C>T;NG_007525.1:g.6901C>T;NM_005373.2:c.690+135C>T;NT_032977.9:g.13777293C>T 5235087 2840287 TSC1226510 1.14e-02 2002.09.20 2003.10.10 2001.09.28 2011.09.09 132 ABI 4352 NM_005373.2:c.690+194G>A;NG_007525.1:g.6960G>A;NM_005373.2:c.690+194G>A;NT_032977.9:g.13777352G>A 43825124 35661092 hCV1770461 2005.07.18 2005.07.18 2006.03.15 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.690+194G>A;NG_007525.1:g.6960G>A;NM_005373.2:c.690+194G>A;NT_032977.9:g.13777352G>A 161253832 35661092 ENSSNP223150 2009.09.24 2009.09.24 2006.03.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.691-178C>T;NG_007525.1:g.6983C>T;NM_005373.2:c.691-178C>T;NT_032977.9:g.13777375C>T 218349685 79089983 pilot_1_YRI_159368_chr1_43578044 1.83e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 NHLBI-ESP 4352 341959139 144210383 ESP2500-chr1-43805656 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959141 141311765 ESP2500-chr1-43805698 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959143 121913611 ESP2500-chr1-43805713 Germline probable-pathogenic 2011.03.25 2011.03.25 2010.11.24 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.ARG257CYS 275515540 121913611 4167 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.793C>T;NT_032977.9:g.13777655C>T;NP_005364.1:p.Leu265Phe 238208555 117656396 pilot_1_CHB+JPT_93632_chr1_43578324 3.66e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 OMICIA 4352 NC_000001.9:g.43578354C>A NM_005373.2:c.823C>A;NG_007525.1:g.7293C>A;NP_005364.1:p.Pro275Thr;NM_005373.2:c.823C>A;NT_032977.9:g.13777685C>A;NP_005364.1:p.Pro275Thr 169651110 28928908 2009_August_001_174_MPL_159530_0008 Germline probable-pathogenic 2009.10.01 2009.11.05 2005.05.24 2011.09.09 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.PRO275THR NM_005373.2:c.823C>A;NG_007525.1:g.7293C>A;NP_005364.1:p.Pro275Thr;NM_005373.2:c.823C>A;NT_032977.9:g.13777685C>A;NP_005364.1:p.Pro275Thr 275515544 28928908 4172 Germline probable-pathogenic 2010.11.24 2010.11.24 2005.05.24 2011.09.09 132 OMIMSNP 4352 NM_005373.2:c.823C>A;NG_007525.1:g.7293C>A;NP_005364.1:p.Pro275Thr;NM_005373.2:c.823C>A;NT_032977.9:g.13777685C>A;NP_005364.1:p.Pro275Thr 38341707 28928908 OMIM_159530_0008 Germline probable-pathogenic 2005.05.17 2005.05.17 2005.05.24 2011.09.09 132 1000GENOMES 4352 454016117 191411075 20101123_snps_183347_chr1_43805841 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016118 181036123 20101123_snps_183348_chr1_43805950 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.854-96T>C;NG_007525.1:g.7488T>C;NM_005373.2:c.854-96T>C;NT_032977.9:g.13777880T>C 41304734 35112753 hCV33269686 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 BUSHMAN 4352 NM_005373.2:c.884A>G;NG_007525.1:g.7614A>G;NP_005364.1:p.Asp295Gly;NM_005373.2:c.884A>G;NT_032977.9:g.13778006A>G;NP_005364.1:p.Asp295Gly 198369473 113696793 BUSHMAN-chr1-43578674 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 4352 341959145 150338376 ESP2500-chr1-43806125 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 328564585 149265851 20100804_snps_208121_chr1_43806166 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959147 149265851 ESP2500-chr1-43806166 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959149 138636505 ESP2500-chr1-43806167 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 454016119 185927820 20101123_snps_183349_chr1_43806226 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564586 143484210 20100804_snps_208122_chr1_43806280 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564587 147985645 20100804_snps_208123_chr1_43806562 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+464C>T;NT_032977.9:g.13778566C>T 230509346 115530314 pilot_1_CEU_113975_chr1_43579235 1.83e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 4352 454016120 191050923 20101123_snps_183350_chr1_43806672 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+557T>C;NT_032977.9:g.13778659T>C 238208556 117068273 pilot_1_CHB+JPT_93633_chr1_43579328 7.31e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 454016121 183288408 20101123_snps_183351_chr1_43806933 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+821T>C;NT_032977.9:g.13778923T>C 238208557 117392460 pilot_1_CHB+JPT_93634_chr1_43579592 9.60e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 328564588 141608313 20100804_snps_208124_chr1_43807028 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016122 187578234 20101123_snps_183352_chr1_43807057 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 328564589 1749959 20100804_snps_208125_chr1_43807075 2.63e-01 2011.03.22 2011.03.22 2000.11.09 2011.09.09 132 ABI 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 41098079 1749959 hCV33269685 2.63e-01 2005.07.17 2005.07.17 2000.11.09 2011.09.09 132 BCM-HGSC-SUB 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 205527769 1749959 BCM_CMT_1011-242793 2.63e-01 2010.03.16 2010.03.16 2000.11.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 198369478 1749959 BUSHMAN-chr1-43579661 2.63e-01 2010.03.06 2010.03.06 2000.11.09 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 164182282 1749959 NA07022_36_chr1_43579662 2.63e-01 2009.09.29 2009.09.29 2000.11.09 2011.09.09 132 HGSV 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 77647734 1749959 Cor12156_SNV_20070510.chr1_43476168 2.63e-01 2007.10.14 2007.10.14 2000.11.09 2011.09.09 132 HGSV 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 78512804 1749959 Cor12878_SNV_20070510.chr1_43476168 2.63e-01 2007.10.19 2007.10.19 2000.11.09 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.980+891C>T;NG_007525.1:g.8601C>T;NM_005373.2:c.980+891C>T;NT_032977.9:g.13778993C>T 2598424 1749959 AL139289.6_22334 2.63e-01 2000.11.03 2003.10.10 2000.11.09 2011.09.09 132 1000GENOMES 4352 454016123 190784887 20101123_snps_183353_chr1_43807179 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+1275G>A;NG_007525.1:g.8985G>A;NM_005373.2:c.980+1275G>A;NT_032977.9:g.13779377G>A 328564591 80268792 20100804_snps_208127_chr1_43807459 1.83e-03 2011.03.22 2011.03.22 2009.12.01 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+1330T>C;NT_032977.9:g.13779432T>C 218349686 116161713 pilot_1_YRI_159369_chr1_43580101 1.37e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 108156360 35732878 CEU.trio.12.15.2008_54137_chr1_43580126 2.55e-01 2008.12.15 2008.12.15 2006.03.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 218349687 35732878 pilot_1_YRI_159370_chr1_43580126 2.55e-01 2010.04.22 2010.04.22 2006.03.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 230509347 35732878 pilot_1_CEU_113976_chr1_43580126 2.55e-01 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 238208558 35732878 pilot_1_CHB+JPT_93635_chr1_43580126 2.55e-01 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 ABI 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 41186279 35732878 hCV33269684 2.55e-01 2005.07.17 2005.07.17 2006.03.15 2011.09.09 132 BCM-HGSC-SUB 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 205231613 35732878 BCM_CMT_1011-95548 2.55e-01 2010.03.15 2010.03.15 2006.03.15 2011.09.09 132 BGI 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 106563018 35732878 BGI_rs35732878 2.55e-01 2008.09.16 2009.06.16 2006.03.15 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 164182293 35732878 NA07022_36_chr1_43580126 2.55e-01 2009.09.29 2009.09.29 2006.03.15 2011.09.09 132 HGSV 4352 NM_005373.2:c.980+1355C>T;NG_007525.1:g.9065C>T;NM_005373.2:c.980+1355C>T;NT_032977.9:g.13779457C>T 77137465 35732878 Cor12156_SNV_20070510.chr1_43476632 2.55e-01 2007.10.09 2007.10.11 2006.03.15 2011.09.09 132 ABI 4352 NM_005373.2:c.980+1478C>A;NG_007525.1:g.9188C>A;NM_005373.2:c.980+1478C>A;NT_032977.9:g.13779580C>A 41094667 36119134 hCV33269683 2005.07.17 2005.07.17 2006.03.16 2011.07.08 132 1000GENOMES 4352 454016124 183587491 20101123_snps_183354_chr1_43807699 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564592 147506060 20100804_snps_208128_chr1_43807800 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564593 139320251 20100804_snps_208129_chr1_43807812 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 SSAHASNP 4352 NM_005373.2:c.980+1642A>G;NG_007525.1:g.9352A>G;NM_005373.2:c.980+1642A>G;NT_032977.9:g.13779744A>G 20491008 12735530 WGSA-200403-chr1.chr1.NT_032977.6_5414273 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 4352 NM_005373.2:c.980+1644T>G;NG_007525.1:g.9354T>G;NM_005373.2:c.980+1644T>G;NT_032977.9:g.13779746T>G 20510819 12739672 WGSA-200403-chr1.chr1.NT_032977.6_5414275 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 4352 NM_005373.2:c.980+1652T>A;NG_007525.1:g.9362T>A;NM_005373.2:c.980+1652T>A;NT_032977.9:g.13779754T>A 20510846 12739676 WGSA-200403-chr1.chr1.NT_032977.6_5414283 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 4352 328564594 150014994 20100804_snps_208130_chr1_43807856 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 SSAHASNP 4352 NM_005373.2:c.980+1680G>C;NG_007525.1:g.9390G>C;NM_005373.2:c.980+1680G>C;NT_032977.9:g.13779782G>C 20575370 12753161 WGSA-200403-chr1.chr1.NT_032977.6_5414311 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 4352 NM_005373.2:c.980+1686C>T;NG_007525.1:g.9396C>T;NM_005373.2:c.980+1686C>T;NT_032977.9:g.13779788C>T 20580921 12754307 WGSA-200403-chr1.chr1.NT_032977.6_5414317 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 4352 NM_005373.2:c.980+1692C>T;NG_007525.1:g.9402C>T;NM_005373.2:c.980+1692C>T;NT_032977.9:g.13779794C>T 20580945 12754310 WGSA-200403-chr1.chr1.NT_032977.6_5414323 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 4352 454016125 188130997 20101123_snps_183355_chr1_43807884 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 SSAHASNP 4352 NM_005373.2:c.980+1710T>G;NG_007525.1:g.9420T>G;NM_005373.2:c.980+1710T>G;NT_032977.9:g.13779812T>G 20511533 12739819 WGSA-200403-chr1.chr1.NT_032977.6_5414341 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 SSAHASNP 4352 NM_005373.2:c.980+1719C>T;NG_007525.1:g.9429C>T;NM_005373.2:c.980+1719C>T;NT_032977.9:g.13779821C>T 20581006 12754321 WGSA-200403-chr1.chr1.NT_032977.6_5414350 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 4352 328564595 145228154 20100804_snps_208131_chr1_43807930 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1873C>T;NT_032977.9:g.13779975C>T 218349688 115160250 pilot_1_YRI_159371_chr1_43580644 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+1914C>T;NT_032977.9:g.13780016C>T 218349689 114179414 pilot_1_YRI_159372_chr1_43580685 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 454016126 192827640 20101123_snps_183356_chr1_43808123 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 326036676 141038376 YRI_chr1_43580818_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.980+2048C>A;NG_007525.1:g.9758C>A;NM_005373.2:c.980+2048C>A;NT_032977.9:g.13780150C>A 198369483 111424466 BUSHMAN-chr1-43580818 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 454016127 184353714 20101123_snps_183357_chr1_43808253 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 210513896 12065677 YRI.trio.3.2010_22250_chr1_43580876 3.66e-03 2010.03.29 2010.03.29 2004.02.28 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 218349690 12065677 pilot_1_YRI_159373_chr1_43580876 3.66e-03 2010.04.22 2010.04.22 2004.02.28 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 74878747 12065677 ILMN_Human_1M_rs12065677 3.66e-03 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 160030591 12065677 HumanOmni1-Quad_v1-0_B_rs12065677-128_T_F_1513887042 3.66e-03 2009.08.05 2009.10.01 2004.02.28 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 171829063 12065677 Human1M-Duov3_B_rs12065677-128_T_F_1513887042 3.66e-03 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 119746521 12065677 KHS1830820 3.66e-03 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 SC_SNP 4352 NM_005373.2:c.980+2105G>A;NG_007525.1:g.9815G>A;NM_005373.2:c.980+2105G>A;NT_032977.9:g.13780207G>A 18151781 12065677 SC-CHR1_NA17109-200402.chr1.NT_032977.6_5414736 3.66e-03 2004.02.20 2006.10.26 2004.02.28 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+2336G>A;NG_007525.1:g.10046G>A;NM_005373.2:c.980+2336G>A;NT_032977.9:g.13780438G>A 230509348 111888775 pilot_1_CEU_113977_chr1_43581107 2.61e-01 2010.05.01 2010.05.01 2010.07.04 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.980+2336G>A;NG_007525.1:g.10046G>A;NM_005373.2:c.980+2336G>A;NT_032977.9:g.13780438G>A 238208559 111888775 pilot_1_CHB+JPT_93636_chr1_43581107 2.61e-01 2010.05.01 2010.05.01 2010.07.04 2011.09.09 132 BCM-HGSC-SUB 4352 NM_005373.2:c.980+2336G>A;NG_007525.1:g.10046G>A;NM_005373.2:c.980+2336G>A;NT_032977.9:g.13780438G>A 205523672 111888775 BCM_CMT_1011-240728 2.61e-01 2010.03.16 2010.03.16 2010.07.04 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.980+2336G>A;NG_007525.1:g.10046G>A;NM_005373.2:c.980+2336G>A;NT_032977.9:g.13780438G>A 164182303 111888775 NA07022_36_chr1_43581107 2.61e-01 2009.09.29 2009.09.29 2010.07.04 2011.09.09 132 1000GENOMES 4352 454016128 186555874 20101123_snps_183358_chr1_43808588 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.980+2486G>C;NG_007525.1:g.10196G>C;NM_005373.2:c.980+2486G>C;NT_032977.9:g.13780588G>C 328564596 11210837 20100804_snps_208132_chr1_43808670 4.57e-04 2011.03.22 2011.03.22 2004.02.27 2011.10.06 132 SC_SNP 4352 NM_005373.2:c.980+2486G>C;NG_007525.1:g.10196G>C;NM_005373.2:c.980+2486G>C;NT_032977.9:g.13780588G>C 15397093 11210837 NT_032977.6_5415117 4.57e-04 2003.11.14 2003.11.22 2004.02.27 2011.10.06 132 SC_SNP 4352 NM_005373.2:c.980+2486G>C;NG_007525.1:g.10196G>C;NM_005373.2:c.980+2486G>C;NT_032977.9:g.13780588G>C 18154060 11210837 SC-CHR1_NA17109-200402.chr1.NT_032977.6_5415117 4.57e-04 2004.02.20 2004.03.04 2004.02.27 2011.10.06 132 BL 4352 253057997 142354501 SNP48744_1_43581294 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 1000GENOMES 4352 454016129 192558693 20101123_snps_183359_chr1_43808720 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 326036679 143065104 YRI_chr1_43581313_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.980+2543A>T;NG_007525.1:g.10253A>T;NM_005373.2:c.980+2543A>T;NT_032977.9:g.13780645A>T 198369488 72880205 BUSHMAN-chr1-43581313 2010.03.06 2010.03.06 2009.02.14 2011.09.09 132 ILLUMINA-UK 4352 NM_005373.2:c.980+2543A>T;NG_007525.1:g.10253A>T;NM_005373.2:c.980+2543A>T;NT_032977.9:g.13780645A>T 118650873 72880205 NA18507_000049870_NCBI36.1_chr1_43581314 2009.01.21 2009.01.21 2009.02.14 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.980+2558G>T;NG_007525.1:g.10268G>T;NM_005373.2:c.980+2558G>T;NT_032977.9:g.13780660G>T 137907599 75159184 ENSSNP11525729 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 4352 328564597 143588963 20100804_snps_208133_chr1_43809756 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564598 146530506 20100804_snps_208134_chr1_43809858 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016130 184819725 20101123_snps_183360_chr1_43809916 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ENSEMBL 4352 NM_005373.2:c.981-2130C>G;NG_007525.1:g.11512C>G;NM_005373.2:c.981-2130C>G;NT_032977.9:g.13781904C>G 137907602 79323933 ENSSNP11525730 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-2099G>A;NT_032977.9:g.13781935G>A 218349692 114073866 pilot_1_YRI_159375_chr1_43582604 4.57e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 454016131 189236986 20101123_snps_183361_chr1_43810023 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016132 181902839 20101123_snps_183362_chr1_43810160 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016133 185247229 20101123_snps_183363_chr1_43810426 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564599 141101332 20100804_snps_208135_chr1_43810619 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016134 189614290 20101123_snps_183364_chr1_43810625 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016135 181105998 20101123_snps_183365_chr1_43810636 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564601 151201602 20100804_snps_208137_chr1_43810654 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-1288G>A;NT_032977.9:g.13782746G>A 218349693 116471452 pilot_1_YRI_159376_chr1_43583415 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 454016136 185407263 20101123_snps_183366_chr1_43810835 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016137 188157730 20101123_snps_183367_chr1_43810933 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016138 180830897 20101123_snps_183368_chr1_43811012 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.981-1051T>A;NT_032977.9:g.13782983T>A 218349694 115863500 pilot_1_YRI_159377_chr1_43583652 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 4352 328564602 140263908 20100804_snps_208138_chr1_43811258 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 108156368 1199036 CEU.trio.12.15.2008_54139_chr1_43583992 2.84e-01 2008.12.15 2008.12.15 2000.10.18 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 110359212 1199036 NA19240_2008_12_16_51515_chr1_43583992 2.84e-01 2008.12.17 2008.12.17 2000.10.18 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 218349695 1199036 pilot_1_YRI_159378_chr1_43583992 2.84e-01 2010.04.22 2010.04.22 2000.10.18 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 230509349 1199036 pilot_1_CEU_113978_chr1_43583992 2.84e-01 2010.05.01 2010.05.01 2000.10.18 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 238208560 1199036 pilot_1_CHB+JPT_93637_chr1_43583992 2.84e-01 2010.05.01 2010.05.01 2000.10.18 2011.09.09 132 ABI 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 41314697 1199036 hCV9032627 2.84e-01 2005.07.17 2005.07.17 2000.10.18 2011.09.09 132 BCM-HGSC-SUB 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 205114230 1199036 BCM_CMT_1011-37029 2.84e-01 2010.03.15 2010.03.15 2000.10.18 2011.09.09 132 BGI 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 106563019 1199036 BGI_rs1199036 2.84e-01 2008.09.16 2009.06.16 2000.10.18 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 198369493 1199036 BUSHMAN-chr1-43583991 2.84e-01 2010.03.06 2010.03.06 2000.10.18 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 163323291 1199036 NA19240_36_chr1_43583992 2.84e-01 2009.09.29 2009.09.29 2000.10.18 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 164182310 1199036 NA07022_36_chr1_43583992 2.84e-01 2009.09.29 2009.09.29 2000.10.18 2011.09.09 132 CSHL-HAPMAP 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 16408488 1199036 CSHL-HuAA-200402.chr1.NT_032977.6_5417852 2.84e-01 2004.02.17 2004.03.04 2000.10.18 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 161253836 1199036 ENSSNP223153 2.84e-01 2009.09.24 2009.09.24 2000.10.18 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 160024000 1199036 HumanOmni1-Quad_v1-0_B_rs1199036-128_T_F_1572766278 2.84e-01 2009.08.05 2009.10.01 2000.10.18 2011.09.09 132 KWOK 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 1706851 1199036 OVLP-000925-545260 2.84e-01 2000.10.05 2003.10.10 2000.10.18 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.981-711G>A;NG_007525.1:g.12931G>A;NM_005373.2:c.981-711G>A;NT_032977.9:g.13783323G>A 2598425 1199036 AL139289.6_26664 2.84e-01 2000.11.03 2003.10.10 2000.10.18 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-631C>A;NG_007525.1:g.13011C>A;NM_005373.2:c.981-631C>A;NT_032977.9:g.13783403C>A 230509350 76750931 pilot_1_CEU_113979_chr1_43584072 1.37e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 4352 328564603 150326171 20100804_snps_208139_chr1_43811675 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564604 137958631 20100804_snps_208140_chr1_43811878 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564605 143466943 20100804_snps_208141_chr1_43811915 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 4352 NM_005373.2:c.981-150_981-149insG;NG_007525.1:g.13492_13493insG;NM_005373.2:c.981-150_981-149insG;NT_032977.9:g.13783884_13783885insG 41079971 35220979 hCV33269682 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 4352 454016139 186532043 20101123_snps_183369_chr1_43812027 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.981-63_981-62insG;NG_007525.1:g.13579_13580insG;NM_005373.2:c.981-63_981-62insG;NT_032977.9:g.13783971_13783972insG 41316288 35033306 hCV33269681 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 108156372 1760670 CEU.trio.12.15.2008_54140_chr1_43584662 2.66e-01 2008.12.15 2008.12.15 2000.11.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 110359223 1760670 NA19240_2008_12_16_51516_chr1_43584662 2.66e-01 2008.12.17 2008.12.17 2000.11.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 218349696 1760670 pilot_1_YRI_159379_chr1_43584662 2.66e-01 2010.04.22 2010.04.22 2000.11.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 230509351 1760670 pilot_1_CEU_113980_chr1_43584662 2.66e-01 2010.05.01 2010.05.01 2000.11.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 238208561 1760670 pilot_1_CHB+JPT_93638_chr1_43584662 2.66e-01 2010.05.01 2010.05.01 2000.11.09 2011.09.09 132 ABI 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 43906721 1760670 hCV8375535 2.66e-01 2005.07.18 2006.11.03 2000.11.09 2011.09.09 132 BCM-HGSC-SUB 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 205392976 1760670 BCM_CMT_1011-175615 2.66e-01 2010.03.15 2010.03.15 2000.11.09 2011.09.09 132 BGI 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 106563020 1760670 BGI_rs1760670 2.66e-01 2008.09.16 2009.06.16 2000.11.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 198369498 1760670 BUSHMAN-chr1-43584661 2.66e-01 2010.03.06 2010.03.06 2000.11.09 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 163323297 1760670 NA19240_36_chr1_43584662 2.66e-01 2009.09.29 2009.09.29 2000.11.09 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 164182323 1760670 NA07022_36_chr1_43584662 2.66e-01 2009.09.29 2009.09.29 2000.11.09 2011.09.09 132 CSHL-HAPMAP 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 68365324 1760670 sanger:assay:441872:1 2.66e-01 2007.01.11 2007.01.16 2000.11.09 2011.09.09 132 HGSV 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 83375659 1760670 Cor19240_SNV_20070510.chr1_43481168 2.66e-01 2007.12.04 2007.12.04 2000.11.09 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 65716612 1760670 Human1-rs1760670 2.66e-01 2006.10.10 2006.10.10 2000.11.09 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 74908683 1760670 ILMN_Human_1M_rs1760670 2.66e-01 2007.08.29 2007.08.29 2000.11.09 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 160449453 1760670 HumanOmni1-Quad_v1-0_B_rs1760670-128_T_R_1513929585 2.66e-01 2009.08.06 2009.10.02 2000.11.09 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 172858649 1760670 Human1M-Duov3_B_rs1760670-128_T_R_1513929585 2.66e-01 2009.10.02 2009.10.02 2000.11.09 2011.09.09 132 KRIBB_YJKIM 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 119402936 1760670 KHS1565183 2.66e-01 2009.02.04 2009.02.04 2000.11.09 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 2614518 1760670 AL354972.6_32482 2.66e-01 2000.11.03 2004.04.07 2000.11.09 2011.09.09 132 SI_EXO 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 76888242 1760670 NT_032977.8_13783993 2.66e-01 2007.09.20 2007.09.20 2000.11.09 2011.09.09 132 WI_SSAHASNP 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 6416157 1760670 NT_004852.13_4390295 2.66e-01 2003.02.12 2003.10.10 2000.11.09 2011.09.09 132 YUSUKE 4352 NM_005373.2:c.981-41G>A;NG_007525.1:g.13601G>A;NM_005373.2:c.981-41G>A;NT_032977.9:g.13783993G>A 4954093 1760670 IMS-JST122632 2.66e-01 2002.08.07 2003.10.10 2000.11.09 2011.09.09 132 NHLBI-ESP 4352 341959151 144491350 ESP2500-chr1-43812122 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447535 66678971 INDEL_GP36_2008a_2745713_0 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447537 66678971 INDEL_GP36_2008a_2745713_1 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447540 66678971 INDEL_GP36_2008a_2745713_2 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447543 66678971 INDEL_GP36_2008a_2745713_3 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447546 66678971 INDEL_GP36_2008a_2745713_4 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447549 66678971 INDEL_GP36_2008a_2745713_5 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447553 66678971 INDEL_GP36_2008a_2745713_6 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447556 66678971 INDEL_GP36_2008a_2745713_7 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.988_989insC;NG_007525.1:g.13649_13650insC;NM_005373.2:c.988_989insC;NT_032977.9:g.13784041_13784042insC 100447558 66678971 INDEL_GP36_2008a_2745713_8 2008.05.16 2008.05.16 2009.02.04 2011.07.08 132 NHLBI-ESP 4352 341959153 141526418 ESP2500-chr1-43812137 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959155 139770726 ESP2500-chr1-43812138 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 BCMHGSC_JDW 4352 NM_005373.2:c.1040C>A;NG_007525.1:g.13701C>A;NP_005364.1:p.Pro347Gln;NM_005373.2:c.1040C>A;NT_032977.9:g.13784093C>A;NP_005364.1:p.Pro347Gln 87390595 61769040 JWB-2724612 2008.02.26 2008.02.26 2008.03.23 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.1040C>A;NG_007525.1:g.13701C>A;NP_005364.1:p.Pro347Gln;NM_005373.2:c.1040C>A;NT_032977.9:g.13784093C>A;NP_005364.1:p.Pro347Gln 137907605 61769040 ENSSNP11525731 2009.05.16 2009.05.16 2008.03.23 2011.09.09 132 NHLBI-ESP 4352 341959157 146071368 ESP2500-chr1-43812178 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959159 149810307 ESP2500-chr1-43812237 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 454016140 190983971 20101123_snps_183370_chr1_43812255 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 IBCM 4352 469103850 190983971 WDMPL-1 2011.07.22 2011.07.22 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016141 183457400 20101123_snps_183371_chr1_43812346 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.1165+76A>G;NT_032977.9:g.13784294A>G 238208562 117064599 pilot_1_CHB+JPT_93639_chr1_43584963 5.94e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 328564606 145757401 20100804_snps_208142_chr1_43812394 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564607 139383298 20100804_snps_208143_chr1_43812411 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 4352 341959161 148945299 ESP2500-chr1-43812494 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959163 147608148 ESP2500-chr1-43812501 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 APPLERA_GI 4352 NM_005373.2:c.1266T>C;NG_007525.1:g.14089T>C;NM_005373.2:c.1266T>C;NT_032977.9:g.13784481T>C 48421158 34928544 hCV25599118 2005.11.30 2006.11.03 2006.03.14 2011.09.09 132 1000GENOMES 4352 328564608 143292386 20100804_snps_208144_chr1_43812704 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1308+110A>G;NT_032977.9:g.13784633A>G 238208563 117374492 pilot_1_CHB+JPT_93640_chr1_43585302 4.11e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 328564609 144824031 20100804_snps_208145_chr1_43812773 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1308+274G>A;NT_032977.9:g.13784797G>A 230509352 114338202 pilot_1_CEU_113981_chr1_43585466 1.28e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 4352 454016142 186773022 20101123_snps_183372_chr1_43813101 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016143 191262536 20101123_snps_183373_chr1_43813103 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016144 183127979 20101123_snps_183374_chr1_43813264 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564610 148563263 20100804_snps_208146_chr1_43813636 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564611 141922193 20100804_snps_208147_chr1_43813653 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564612 150654011 20100804_snps_208148_chr1_43813864 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016145 186944771 20101123_snps_183375_chr1_43813918 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.1309-592_1309-591insA;NG_007525.1:g.15448_15449insA;NM_005373.2:c.1309-592_1309-591insA;NT_032977.9:g.13785840_13785841insA 41344296 35643365 hCV33269679 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1309-447T>C;NT_032977.9:g.13785985T>C 238208564 117652506 pilot_1_CHB+JPT_93641_chr1_43586654 4.11e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 328564613 139769046 20100804_snps_208149_chr1_43814137 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1309-181G>A;NT_032977.9:g.13786251G>A 218349697 115813067 pilot_1_YRI_159380_chr1_43586920 2.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996919 68132470 INDEL_GP36_2008a_2653773_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996922 68132470 INDEL_GP36_2008a_2653773_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996925 68132470 INDEL_GP36_2008a_2653773_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996928 68132470 INDEL_GP36_2008a_2653773_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996932 68132470 INDEL_GP36_2008a_2653773_4 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996933 68132470 INDEL_GP36_2008a_2653773_5 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996938 68132470 INDEL_GP36_2008a_2653773_6 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996939 68132470 INDEL_GP36_2008a_2653773_7 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996941 68132470 INDEL_GP36_2008a_2653773_8 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996945 68132470 INDEL_GP36_2008a_2653773_9 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996948 68132470 INDEL_GP36_2008a_2653773_10 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996952 68132470 INDEL_GP36_2008a_2653773_11 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996953 68132470 INDEL_GP36_2008a_2653773_12 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996957 68132470 INDEL_GP36_2008a_2653773_13 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996959 68132470 INDEL_GP36_2008a_2653773_14 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996963 68132470 INDEL_GP36_2008a_2653773_15 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996967 68132470 INDEL_GP36_2008a_2653773_16 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996970 68132470 INDEL_GP36_2008a_2653773_17 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996972 68132470 INDEL_GP36_2008a_2653773_18 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996974 68132470 INDEL_GP36_2008a_2653773_19 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996978 68132470 INDEL_GP36_2008a_2653773_20 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996979 68132470 INDEL_GP36_2008a_2653773_21 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996982 68132470 INDEL_GP36_2008a_2653773_22 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996986 68132470 INDEL_GP36_2008a_2653773_23 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996989 68132470 INDEL_GP36_2008a_2653773_24 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996993 68132470 INDEL_GP36_2008a_2653773_25 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996995 68132470 INDEL_GP36_2008a_2653773_26 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100996999 68132470 INDEL_GP36_2008a_2653773_27 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997002 68132470 INDEL_GP36_2008a_2653773_28 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997004 68132470 INDEL_GP36_2008a_2653773_29 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997008 68132470 INDEL_GP36_2008a_2653773_30 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997009 68132470 INDEL_GP36_2008a_2653773_31 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997013 68132470 INDEL_GP36_2008a_2653773_32 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997016 68132470 INDEL_GP36_2008a_2653773_33 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997019 68132470 INDEL_GP36_2008a_2653773_34 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997023 68132470 INDEL_GP36_2008a_2653773_35 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997025 68132470 INDEL_GP36_2008a_2653773_36 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997028 68132470 INDEL_GP36_2008a_2653773_37 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997031 68132470 INDEL_GP36_2008a_2653773_38 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997033 68132470 INDEL_GP36_2008a_2653773_39 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997036 68132470 INDEL_GP36_2008a_2653773_40 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997039 68132470 INDEL_GP36_2008a_2653773_41 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997041 68132470 INDEL_GP36_2008a_2653773_42 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997045 68132470 INDEL_GP36_2008a_2653773_43 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997047 68132470 INDEL_GP36_2008a_2653773_44 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997050 68132470 INDEL_GP36_2008a_2653773_45 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997052 68132470 INDEL_GP36_2008a_2653773_46 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997056 68132470 INDEL_GP36_2008a_2653773_47 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997058 68132470 INDEL_GP36_2008a_2653773_48 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997061 68132470 INDEL_GP36_2008a_2653773_49 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997065 68132470 INDEL_GP36_2008a_2653773_50 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997068 68132470 INDEL_GP36_2008a_2653773_51 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997071 68132470 INDEL_GP36_2008a_2653773_52 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997075 68132470 INDEL_GP36_2008a_2653773_53 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997078 68132470 INDEL_GP36_2008a_2653773_54 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997083 68132470 INDEL_GP36_2008a_2653773_55 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997085 68132470 INDEL_GP36_2008a_2653773_56 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997088 68132470 INDEL_GP36_2008a_2653773_57 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997091 68132470 INDEL_GP36_2008a_2653773_58 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997094 68132470 INDEL_GP36_2008a_2653773_59 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997096 68132470 INDEL_GP36_2008a_2653773_60 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997099 68132470 INDEL_GP36_2008a_2653773_61 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997102 68132470 INDEL_GP36_2008a_2653773_62 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997105 68132470 INDEL_GP36_2008a_2653773_63 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997108 68132470 INDEL_GP36_2008a_2653773_64 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997109 68132470 INDEL_GP36_2008a_2653773_65 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997113 68132470 INDEL_GP36_2008a_2653773_66 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997117 68132470 INDEL_GP36_2008a_2653773_67 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997119 68132470 INDEL_GP36_2008a_2653773_68 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997123 68132470 INDEL_GP36_2008a_2653773_69 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997125 68132470 INDEL_GP36_2008a_2653773_70 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997128 68132470 INDEL_GP36_2008a_2653773_71 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1309-101delA;NG_007525.1:g.15939delA;NM_005373.2:c.1309-101delA;NT_032977.9:g.13786331delA 100997130 68132470 INDEL_GP36_2008a_2653773_72 2008.05.17 2008.05.17 2009.02.06 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1309-61T>C;NG_007525.1:g.15979T>C;NM_005373.2:c.1309-61T>C;NT_032977.9:g.13786371T>C 328564615 111245827 20100804_snps_208151_chr1_43814453 1.05e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.1309-61T>C;NG_007525.1:g.15979T>C;NM_005373.2:c.1309-61T>C;NT_032977.9:g.13786371T>C 198369503 111245827 BUSHMAN-chr1-43587039 1.05e-02 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 328564616 139486615 20100804_snps_208152_chr1_43814504 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016146 191392918 20101123_snps_183376_chr1_43814534 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 4352 341959165 146120160 ESP2500-chr1-43814604 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 328564617 143501322 20100804_snps_208153_chr1_43814725 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016147 182191253 20101123_snps_183377_chr1_43814755 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 SSAHASNP 4352 NM_005373.2:c.1469-92G>T;NG_007525.1:g.16368G>T;NM_005373.2:c.1469-92G>T;NT_032977.9:g.13786760G>T 20435020 12723924 WGSA-200403-chr1.chr1.NT_032977.6_5421289 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 218349698 839995 pilot_1_YRI_159381_chr1_43587451 2.61e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 230509353 839995 pilot_1_CEU_113982_chr1_43587451 2.61e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 238208565 839995 pilot_1_CHB+JPT_93642_chr1_43587451 2.61e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 41133072 839995 hCV8375536 2.61e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 BGI 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 106563021 839995 BGI_rs839995 2.61e-01 2008.09.16 2009.06.16 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 164182332 839995 NA07022_36_chr1_43587451 2.61e-01 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 1179302 839995 OVLP-000804-582764 2.61e-01 2000.09.02 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 1706852 839995 OVLP-000925-545261 2.61e-01 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 1707301 839995 OVLP-000925-550510 2.61e-01 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 2618905 839995 AL356007.8_59174 2.61e-01 2000.11.03 2003.10.10 2000.10.05 2011.09.09 132 SEQUENOM 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 24809680 839995 sqnm190997 2.61e-01 2004.06.18 2004.06.18 2000.10.05 2011.09.09 132 SI_EXO 4352 NM_005373.2:c.1469-70T>C;NG_007525.1:g.16390T>C;NM_005373.2:c.1469-70T>C;NT_032977.9:g.13786782T>C 76898588 839995 NT_032977.8_13786782 2.61e-01 2007.09.20 2007.09.20 2000.10.05 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.1469-49C>A;NG_007525.1:g.16411C>A;NM_005373.2:c.1469-49C>A;NT_032977.9:g.13786803C>A 160297114 12725188 HumanOmni1-Quad_v1-0_B_rs12725188-128_B_R_1572789005 2009.08.06 2009.10.02 2004.04.05 2011.09.09 132 SSAHASNP 4352 NM_005373.2:c.1469-49C>A;NG_007525.1:g.16411C>A;NM_005373.2:c.1469-49C>A;NT_032977.9:g.13786803C>A 20441255 12725188 WGSA-200403-chr1.chr1.NT_032977.6_5421332 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 OMIM-CURATED-RECORDS 4352 NM_005373.2:c.1473G>A 275515543 121913613 4170 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 NHLBI-ESP 4352 341959167 140091584 ESP2500-chr1-43814953 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.SER505ASN 275515546 121913614 4174 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 NHLBI-ESP 4352 341959169 137990502 ESP2500-chr1-43815001 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NM_005373.2:c.1543_1544delinsAA 275515548 121913616 4176 probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.TRP515LEU 275515547 121913615 4175 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1565+5C>T;NG_007525.1:g.16561C>T;NM_005373.2:c.1565+5C>T;NT_032977.9:g.13786953C>T 230509354 41269541 pilot_1_CEU_113983_chr1_43587622 2.29e-03 2010.05.01 2010.05.01 2006.10.18 2011.07.08 132 SI_EXO 4352 NM_005373.2:c.1565+5C>T;NG_007525.1:g.16561C>T;NM_005373.2:c.1565+5C>T;NT_032977.9:g.13786953C>T 52053349 41269541 NT_004511.17_13786953 2.29e-03 2006.03.29 2006.03.29 2006.10.18 2011.07.08 132 1000GENOMES 4352 454016148 187919391 20101123_snps_183378_chr1_43815146 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.1565+129delC;NG_007525.1:g.16685delC;NM_005373.2:c.1565+129delC;NT_032977.9:g.13787077delC 41134907 34504552 hCV33269678 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 4352 454016149 193213663 20101123_snps_183379_chr1_43815338 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016150 185188198 20101123_snps_183380_chr1_43815408 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564618 145596604 20100804_snps_208154_chr1_43815491 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016151 190134295 20101123_snps_183381_chr1_43815532 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564619 148877686 20100804_snps_208155_chr1_43815534 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564620 143549194 20100804_snps_208156_chr1_43815673 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564621 150968238 20100804_snps_208157_chr1_43815863 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1565+1007C>G;NG_007525.1:g.17563C>G;NM_005373.2:c.1565+1007C>G;NT_032977.9:g.13787955C>G 110359229 72880212 NA19240_2008_12_16_51517_chr1_43588624 4.11e-03 2008.12.17 2008.12.17 2009.02.14 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.1565+1007C>G;NG_007525.1:g.17563C>G;NM_005373.2:c.1565+1007C>G;NT_032977.9:g.13787955C>G 218349699 72880212 pilot_1_YRI_159382_chr1_43588624 4.11e-03 2010.04.22 2010.04.22 2009.02.14 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.1565+1007C>G;NG_007525.1:g.17563C>G;NM_005373.2:c.1565+1007C>G;NT_032977.9:g.13787955C>G 163323304 72880212 NA19240_36_chr1_43588624 4.11e-03 2009.09.29 2009.09.29 2009.02.14 2011.09.09 132 1000GENOMES 4352 328564622 142046328 20100804_snps_208158_chr1_43816123 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016152 192740407 20101123_snps_183382_chr1_43816257 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.1565+1266C>T;NG_007525.1:g.17822C>T;NM_005373.2:c.1565+1266C>T;NT_032977.9:g.13788214C>T 43983476 34317846 hCV1770426 2005.07.18 2005.07.18 2006.03.13 2011.09.09 132 HUMANGENOME_JCVI 4352 NM_005373.2:c.1565+1266C>T;NG_007525.1:g.17822C>T;NM_005373.2:c.1565+1266C>T;NT_032977.9:g.13788214C>T 99203763 34317846 1103675079791 2008.04.03 2008.04.03 2006.03.13 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.1565+1266C>T;NG_007525.1:g.17822C>T;NM_005373.2:c.1565+1266C>T;NT_032977.9:g.13788214C>T 75040828 34317846 ILMN_Human_1M_rs34317846 2007.08.29 2007.08.29 2006.03.13 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.1565+1266C>T;NG_007525.1:g.17822C>T;NM_005373.2:c.1565+1266C>T;NT_032977.9:g.13788214C>T 173587715 34317846 Human1M-Duov3_B_rs34317846-128_B_F_1514003838 2009.10.04 2009.10.04 2006.03.13 2011.09.09 132 KRIBB_YJKIM 4352 NM_005373.2:c.1565+1266C>T;NG_007525.1:g.17822C>T;NM_005373.2:c.1565+1266C>T;NT_032977.9:g.13788214C>T 119910009 34317846 KHS1913198 2009.02.05 2009.02.05 2006.03.13 2011.09.09 132 1000GENOMES 4352 328564623 145796188 20100804_snps_208159_chr1_43816355 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016153 184301095 20101123_snps_183383_chr1_43816402 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 328564624 839996 20100804_snps_208160_chr1_43816532 2.53e-01 2011.03.22 2011.03.22 2000.10.05 2011.09.09 132 ABI 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 41134184 839996 hCV26468284 2.53e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 164182342 839996 NA07022_36_chr1_43589119 2.53e-01 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 1179303 839996 OVLP-000804-582765 2.53e-01 2000.09.02 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 1706853 839996 OVLP-000925-545262 2.53e-01 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 KWOK 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 1752284 839996 OVLP-000925-550511 2.53e-01 2000.10.05 2003.10.10 2000.10.05 2011.09.09 132 SC_JCM 4352 NM_005373.2:c.1566-1355T>C;NG_007525.1:g.18058T>C;NM_005373.2:c.1566-1355T>C;NT_032977.9:g.13788450T>C 2614517 839996 AL354972.6_28025 2.53e-01 2000.11.03 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 4352 454016154 188602653 20101123_snps_183384_chr1_43816635 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 326027563 145016924 JPTCHB_chr1_43589268_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 4352 326028008 148699569 CEU_chr1_43589268_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 4352 193099402 67968107 BUSHMAN-chr1-43589268-43589273 2010.02.16 2010.02.16 2009.02.06 2011.09.09 132 DEVINE_LAB 4352 99354269 67968107 INDEL_GP36_2007a_888589_0 2008.05.05 2008.05.05 2009.02.06 2011.09.09 132 DEVINE_LAB 4352 100496619 67968107 INDEL_GP36_2008a_888589_1 2008.05.16 2008.05.16 2009.02.06 2011.09.09 132 PJP 4352 294576242 67968107 DIP_13946_chr1_43589269 2011.01.21 2011.01.21 2009.02.06 2011.09.09 132 DEVINE_LAB 4352 NM_005373.2:c.1566-1197_1566-1193del5;NG_007525.1:g.18216_18220del5;NM_005373.2:c.1566-1197_1566-1193del5;NT_032977.9:g.13788608_13788612del5 99799820 71820888 INDEL_GP36_2007a_916779_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 4352 NM_005373.2:c.1566-1197A>C;NG_007525.1:g.18216A>C;NM_005373.2:c.1566-1197A>C;NT_032977.9:g.13788608A>C 99203764 71654285 1103675079789 2008.04.03 2008.04.03 2009.02.13 2011.09.09 132 DEVINE_LAB 4352 99394230 66824256 INDEL_GP36_2007a_901708_0 2008.05.05 2008.05.05 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 100950221 66824256 INDEL_GP36_2008a_901708_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1566-1177_1566-1173del5;NG_007525.1:g.18236_18240del5;NM_005373.2:c.1566-1177_1566-1173del5;NT_032977.9:g.13788628_13788632del5 100819604 72033652 INDEL_GP36_2008a_2467212_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1566-1176_1566-1172del5;NG_007525.1:g.18237_18241del5;NM_005373.2:c.1566-1176_1566-1172del5;NT_032977.9:g.13788629_13788633del5 99335925 71649356 INDEL_GP36_2007a_944104_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 BCMHGSC_JDW 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 103481189 59776175 JWB-4002695 2008.06.06 2009.05.11 2007.12.15 2011.10.06 132 BL 4352 253058001 147010030 SNP48745_1_43589306 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 102093714 59776175 INDEL_GP36_2008a_1088891_0 2008.05.18 2008.05.18 2007.12.15 2011.10.06 132 HGSV 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 80713633 59776175 Cor12878_DIV_20070510.chr1_43485811-43485817_1 2007.11.26 2007.11.26 2007.12.15 2011.10.06 132 HGSV 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 83765973 59776175 Cor18517_DIV_20070510.chr1_43485811-43485817_1 2007.12.05 2007.12.05 2007.12.15 2011.10.06 132 HUMANGENOME_JCVI 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 95227602 59776175 1104685509911 2008.03.21 2008.12.02 2007.12.15 2011.10.06 132 PJP 4352 NM_005373.2:c.1566-1168_1566-1164del5;NG_007525.1:g.18245_18249del5;NM_005373.2:c.1566-1168_1566-1164del5;NT_032977.9:g.13788637_13788641del5 294576243 59776175 DIP_13947_chr1_43589306 2011.01.21 2011.01.21 2007.12.15 2011.10.06 132 1000GENOMES 4352 454016155 181076098 20101123_snps_183385_chr1_43817026 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 4352 NM_005373.2:c.1566-787delT;NG_007525.1:g.18626delT;NM_005373.2:c.1566-787delT;NT_032977.9:g.13789018delT 41256956 35407653 hCV33269677 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1566-771C>T;NG_007525.1:g.18642C>T;NM_005373.2:c.1566-771C>T;NT_032977.9:g.13789034C>T 218349700 79424964 pilot_1_YRI_159383_chr1_43589703 7.31e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 4352 454016156 185141548 20101123_snps_183386_chr1_43817267 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HGSV 4352 NM_005373.2:c.1566-612A>G;NG_007525.1:g.18801A>G;NM_005373.2:c.1566-612A>G;NT_032977.9:g.13789193A>G 77211481 55837069 Cor12156_SNV_20070510.chr1_43486368 2007.10.09 2007.10.11 2007.12.06 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.1566-534A>G;NG_007525.1:g.18879A>G;NM_005373.2:c.1566-534A>G;NT_032977.9:g.13789271A>G 230509356 75554321 pilot_1_CEU_113985_chr1_43589940 2.47e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 COMPLETE_GENOMICS 4352 NM_005373.2:c.1566-534A>G;NG_007525.1:g.18879A>G;NM_005373.2:c.1566-534A>G;NT_032977.9:g.13789271A>G 164182353 75554321 NA07022_36_chr1_43589940 2.47e-02 2009.09.29 2009.09.29 2009.12.01 2011.09.09 132 1000GENOMES 4352 328564625 141086162 20100804_snps_208161_chr1_43817552 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564626 150484721 20100804_snps_208162_chr1_43817739 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564627 138300178 20100804_snps_208163_chr1_43817761 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 4352 NM_005373.2:c.1566-90C>T;NG_007525.1:g.19323C>T;NM_005373.2:c.1566-90C>T;NT_032977.9:g.13789715C>T 198369508 112801644 BUSHMAN-chr1-43590383 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 4352 454016157 146372205 20101123_snps_183387_chr1_43817891 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 4352 341959171 146372205 ESP2500-chr1-43817891 2011.03.25 2011.03.25 2011.05.09 2011.10.06 132 NHLBI-ESP 4352 341959173 143100182 ESP2500-chr1-43817894 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959175 148784027 ESP2500-chr1-43817930 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ILLUMINA 4352 NM_005373.2:c.1610G>A;NG_007525.1:g.19457G>A;NP_005364.1:p.Arg537Gln;NM_005373.2:c.1610G>A;NT_032977.9:g.13789849G>A;NP_005364.1:p.Arg537Gln 74877335 3820551 ILMN_Human_1M_rs3820551 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 4352 NM_005373.2:c.1610G>A;NG_007525.1:g.19457G>A;NP_005364.1:p.Arg537Gln;NM_005373.2:c.1610G>A;NT_032977.9:g.13789849G>A;NP_005364.1:p.Arg537Gln 173654484 3820551 Human1M-Duov3_B_rs3820551-107_B_R_1513902610 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 KRIBB_YJKIM 4352 NM_005373.2:c.1610G>A;NG_007525.1:g.19457G>A;NP_005364.1:p.Arg537Gln;NM_005373.2:c.1610G>A;NT_032977.9:g.13789849G>A;NP_005364.1:p.Arg537Gln 119465826 3820551 KHS1628073 2009.02.04 2009.02.04 2002.08.28 2011.09.09 132 YUSUKE 4352 NM_005373.2:c.1610G>A;NG_007525.1:g.19457G>A;NP_005364.1:p.Arg537Gln;NM_005373.2:c.1610G>A;NT_032977.9:g.13789849G>A;NP_005364.1:p.Arg537Gln 5006971 3820551 IMS-JST181234 2002.08.12 2003.10.10 2002.08.28 2011.09.09 132 NHLBI-ESP 4352 341959177 150816330 ESP2500-chr1-43817950 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 4352 328564628 149625825 20100804_snps_208164_chr1_43817977 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 WIAF-CSNP 4352 NM_005373.2:c.1654-21G>A;NG_007525.1:g.19694G>A;NM_005373.2:c.1654-21G>A;NT_032977.9:g.13790086G>A 7702 6085 WIAF-11525 1999.07.15 2003.10.10 2000.09.19 2011.10.06 132 1000GENOMES 4352 454016158 150004498 20101123_snps_183388_chr1_43818201 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 4352 341959179 150004498 ESP2500-chr1-43818201 2011.03.25 2011.03.25 2011.05.09 2011.10.06 132 NHLBI-ESP 4352 341959181 142161843 ESP2500-chr1-43818204 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959183 147851301 ESP2500-chr1-43818274 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959185 143457144 ESP2500-chr1-43818329 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959187 140794721 ESP2500-chr1-43818338 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 4352 341959189 138450235 ESP2500-chr1-43818376 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1893delT;NG_007525.1:g.19954delT;NP_005364.1:p.Tyr631fx;NM_005373.2:c.1893delT;NT_032977.9:g.13790346delT;NP_005364.1:p.Tyr631fx 100330145 67746978 INDEL_GP36_2008a_2653838_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1893delT;NG_007525.1:g.19954delT;NP_005364.1:p.Tyr631fx;NM_005373.2:c.1893delT;NT_032977.9:g.13790346delT;NP_005364.1:p.Tyr631fx 100330149 67746978 INDEL_GP36_2008a_2653838_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.1893delT;NG_007525.1:g.19954delT;NP_005364.1:p.Tyr631fx;NM_005373.2:c.1893delT;NT_032977.9:g.13790346delT;NP_005364.1:p.Tyr631fx 100330152 67746978 INDEL_GP36_2008a_2653838_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 132 OMIM-CURATED-RECORDS 4352 NP_005364.1:p.PRO635LEU 275515541 121913612 4168 Germline probable-pathogenic 2010.11.24 2010.11.24 2010.11.24 2011.07.08 132 1000GENOMES 4352 NM_005373.2:c.*94C>A;NG_007525.1:g.20063C>A;NM_005373.2:c.*94C>A;NT_032977.9:g.13790455C>A 238208567 77858532 pilot_1_CHB+JPT_93644_chr1_43591124 5.48e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 4352 454016159 186807040 20101123_snps_183389_chr1_43818554 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DEVINE_LAB 4352 NM_005373.2:c.*154delT;NG_007525.1:g.20123delT;NM_005373.2:c.*154delT;NT_032977.9:g.13790515delT 100140400 67416726 INDEL_GP36_2008a_2745964_0 2008.05.16 2008.05.16 2009.02.05 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.*154delT;NG_007525.1:g.20123delT;NM_005373.2:c.*154delT;NT_032977.9:g.13790515delT 100140403 67416726 INDEL_GP36_2008a_2745964_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.*154delT;NG_007525.1:g.20123delT;NM_005373.2:c.*154delT;NT_032977.9:g.13790515delT 100140404 67416726 INDEL_GP36_2008a_2745964_2 2008.05.16 2008.05.16 2009.02.05 2011.07.08 132 DEVINE_LAB 4352 NM_005373.2:c.*154delT;NG_007525.1:g.20123delT;NM_005373.2:c.*154delT;NT_032977.9:g.13790515delT 100140407 67416726 INDEL_GP36_2008a_2745964_3 2008.05.16 2008.05.16 2009.02.05 2011.07.08 132 1000GENOMES 4352 328564629 144331455 20100804_snps_208165_chr1_43818714 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564630 138892634 20100804_snps_208166_chr1_43818807 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016160 192016153 20101123_snps_183390_chr1_43819016 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016161 182807417 20101123_snps_183391_chr1_43819068 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NM_005373.2:c.*662C>T;NG_007525.1:g.20631C>T;NM_005373.2:c.*662C>T;NT_032977.9:g.13791023C>T 328564631 1763698 20100804_snps_208167_chr1_43819105 1.51e-02 2011.03.22 2011.03.22 2000.11.09 2011.10.06 132 SC_JCM 4352 NM_005373.2:c.*662C>T;NG_007525.1:g.20631C>T;NM_005373.2:c.*662C>T;NT_032977.9:g.13791023C>T 2618904 1763698 AL356007.8_54943 1.51e-02 2000.11.03 2003.10.10 2000.11.09 2011.10.06 132 SC_SNP 4352 NM_005373.2:c.*662C>T;NG_007525.1:g.20631C>T;NM_005373.2:c.*662C>T;NT_032977.9:g.13791023C>T 13018993 1763698 NT_004852.15_201748 1.51e-02 2003.10.22 2003.10.31 2000.11.09 2011.10.06 132 ENSEMBL 4352 NM_005373.2:c.*672C>G;NG_007525.1:g.20641C>G;NM_005373.2:c.*672C>G;NT_032977.9:g.13791033C>G 161253843 75425122 ENSSNP223156 2009.09.24 2010.03.07 2009.12.01 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.*674A>T;NG_007525.1:g.20643A>T;NM_005373.2:c.*674A>T;NT_032977.9:g.13791035A>T 137907607 77858547 ENSSNP11525732 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 ENSEMBL 4352 NM_005373.2:c.*677T>A;NG_007525.1:g.20646T>A;NM_005373.2:c.*677T>A;NT_032977.9:g.13791038T>A 137907611 79736278 ENSSNP11525733 2009.05.16 2009.05.16 2009.12.01 2011.07.08 132 DEVINE_LAB 4352 14993466 10572898 INDEL_GP34_WGS_74616 2003.11.13 2003.11.22 2003.12.05 2011.07.08 132 DEVINE_LAB 4352 14993467 10572899 INDEL_GP34_WGS_74617 2003.11.13 2003.11.22 2003.12.05 2011.07.08 132 HUMANGENOME_JCVI 4352 NM_005373.2:c.*705_*706ins4;NG_007525.1:g.20674_20675ins4;NM_005373.2:c.*705_*706ins4;NT_032977.9:g.13791066_13791067ins4 95966583 71307654 1104754628381 2008.03.24 2008.07.02 2009.02.13 2011.09.09 132 1000GENOMES 4352 454016162 185654501 20101123_snps_183392_chr1_43819152 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016163 190071085 20101123_snps_183393_chr1_43819191 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016164 182233357 20101123_snps_183394_chr1_43819223 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 454016165 186474263 20101123_snps_183395_chr1_43819357 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564632 146322472 20100804_snps_208168_chr1_43819400 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 328564633 139528456 20100804_snps_208169_chr1_43819497 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 4352 NM_005373.2:c.*1079_*1080insC;NG_007525.1:g.21048_21049insC;NM_005373.2:c.*1079_*1080insC;NT_032977.9:g.13791440_13791441insC 41286429 35225340 hCV33269674 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 4352 328564634 144177827 20100804_snps_208170_chr1_43819559 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.*1180G>A;NT_032977.9:g.13791541G>A 238208568 117166528 pilot_1_CHB+JPT_93645_chr1_43592210 7.31e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.*1220C>T;NG_007525.1:g.21189C>T;NM_005373.2:c.*1220C>T;NT_032977.9:g.13791581C>T 328564635 6689207 20100804_snps_208171_chr1_43819663 5.94e-03 2011.03.22 2011.03.22 2003.07.11 2011.09.09 132 BCM_SSAHASNP 4352 NM_005373.2:c.*1220C>T;NG_007525.1:g.21189C>T;NM_005373.2:c.*1220C>T;NT_032977.9:g.13791581C>T 9875168 6689207 chr1.NT_004852.15_202306 5.94e-03 2003.06.28 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 4352 454016166 193122067 20101123_snps_183396_chr1_43819704 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564636 139194573 20100804_snps_208172_chr1_43819895 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016167 183926045 20101123_snps_183397_chr1_43819915 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564637 149940158 20100804_snps_208173_chr1_43819929 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 NM_005373.2:c.*1506G>A;NT_032977.9:g.13791867G>A 230509357 115780311 pilot_1_CEU_113986_chr1_43592536 3.66e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 4352 328564638 144988440 20100804_snps_208174_chr1_43819968 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 4352 454016168 188722111 20101123_snps_183398_chr1_43820031 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 328564639 142139493 20100804_snps_208175_chr1_43820046 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 4352 NG_007525.1:g.21663delA;NT_032977.9:g.13792055delA 41210521 35728788 hCV33269920 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 4352 454016169 193185201 20101123_snps_183399_chr1_43820192 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 4352 NG_007525.1:g.21719G>A;NT_032977.9:g.13792111G>A 230509359 79064184 pilot_1_CEU_113988_chr1_43592780 2.47e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 COMPLETE_GENOMICS 4352 NG_007525.1:g.21719G>A;NT_032977.9:g.13792111G>A 164182365 79064184 NA07022_36_chr1_43592780 2.47e-02 2009.09.29 2009.09.29 2009.12.01 2011.09.09 132 # Report date: 2012.1.24, Gene: MPL (4352), ss count: 635, rs count: 298.