# 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 1893 NG_012062.1:g.3053_3055del3;NM_025150.3:c.2008+358_2008+360del3;NT_004487.19:g.1967181_1967183del3 326084262 10581555 JPTCHB_chr1_148745162_indel 2011.03.11 2011.04.01 2003.12.05 2011.10.06 132 1000GENOMES 1893 NG_012062.1:g.3053_3055del3;NM_025150.3:c.2008+358_2008+360del3;NT_004487.19:g.1967181_1967183del3 326114252 10581555 YRI_chr1_148745162_indel 2011.03.11 2011.04.01 2003.12.05 2011.10.06 132 DEVINE_LAB 1893 NG_012062.1:g.3053_3055del3;NM_025150.3:c.2008+358_2008+360del3;NT_004487.19:g.1967181_1967183del3 15003307 10581555 INDEL_GP34_WGS_85849 2003.11.13 2003.11.22 2003.12.05 2011.10.06 132 DEVINE_LAB 1893 NG_012062.1:g.3053_3055del3;NM_025150.3:c.2008+358_2008+360del3;NT_004487.19:g.1967181_1967183del3 50276889 10581555 INDEL_GP35_WGS_532204 2006.01.24 2006.01.24 2003.12.05 2011.10.06 132 DEVINE_LAB 1893 NG_012062.1:g.3053_3055del3;NM_025150.3:c.2008+358_2008+360del3;NT_004487.19:g.1967181_1967183del3 99874426 10581555 INDEL_GP36_2007a_276156_0 2008.05.06 2008.05.06 2003.12.05 2011.10.06 132 YUSUKE 1893 5020596 3834087 IMS-JST107199 2002.08.12 2003.10.10 2002.08.28 2011.07.08 132 1000GENOMES 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 108579949 3754214 CEU.trio.12.15.2008_157695_chr1_148745247 4.79e-01 2008.12.16 2008.12.16 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 111116421 3754214 NA19240_2008_12_16_144085_chr1_148745247 4.79e-01 2008.12.17 2008.12.17 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 218638378 3754214 pilot_1_YRI_448061_chr1_148745247 4.79e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 230723248 3754214 pilot_1_CEU_327877_chr1_148745247 4.79e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 238372772 3754214 pilot_1_CHB+JPT_257849_chr1_148745247 4.79e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 ABI 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 44038766 3754214 hCV1743960 4.79e-01 2005.07.18 2006.11.03 2002.08.28 2011.09.09 132 BCMHGSC_JDW 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 87815746 3754214 JWB-0124783 4.79e-01 2008.02.26 2008.02.26 2002.08.28 2011.09.09 132 BL 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 253488857 3754214 SNP137892_1_148745247 4.79e-01 2010.08.18 2010.08.18 2002.08.28 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 199053093 3754214 BUSHMAN-chr1-148745246 4.79e-01 2010.03.06 2010.03.06 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 164064321 3754214 NA19240_36_chr1_148745247 4.79e-01 2009.09.29 2009.09.29 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 167101806 3754214 NA20431_36_chr1_148745247 4.79e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 CSHL-HAPMAP 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 16408221 3754214 CSHL-HuAA-200402.chr1.NT_032962.5_968978 4.79e-01 2004.02.17 2004.03.04 2002.08.28 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 138078840 3754214 ENSSNP11629568 4.79e-01 2009.05.16 2009.05.16 2002.08.28 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 143832908 3754214 ENSSNP62179 4.79e-01 2009.06.06 2010.03.07 2002.08.28 2011.09.09 132 GMI 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 155720181 3754214 GMI_SNP_72222953 4.79e-01 2009.06.24 2009.06.24 2002.08.28 2011.09.09 132 HUMANGENOME_JCVI 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 99248774 3754214 1103675221637 4.79e-01 2008.04.03 2008.04.03 2002.08.28 2011.09.09 132 ILLUMINA 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 160636960 3754214 HumanOmni1-Quad_v1-0_B_rs3754214-128_B_F_1569359883 4.79e-01 2009.08.06 2009.10.04 2002.08.28 2011.09.09 132 ILLUMINA-UK 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 119019147 3754214 NA18507_000143555_NCBI36.1_chr1_148745247 4.79e-01 2009.01.22 2009.01.22 2002.08.28 2011.09.09 132 PERLEGEN 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 23203121 3754214 afd1106999 4.79e-01 2004.08.20 2004.09.13 2002.08.28 2011.09.09 132 PJP 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 290632146 3754214 SNP_138504_chr1_148745247 4.79e-01 2011.01.21 2011.01.21 2002.08.28 2011.09.09 132 WI_SSAHASNP 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 6880576 3754214 NT_037496.1_33409 4.79e-01 2003.02.14 2003.10.10 2002.08.28 2011.09.09 132 YUSUKE 1893 NG_012062.1:g.3137T>C;NM_025150.3:c.2008+442T>C;NT_004487.19:g.1967265T>C 4940245 3754214 IMS-JST107200 4.79e-01 2002.08.01 2003.10.10 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3162A>G;NM_025150.3:c.2008+467A>G;NT_004487.19:g.1967290A>G 218638379 74805130 pilot_1_YRI_448062_chr1_148745272 1.19e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 1893 328933614 145238596 20100804_snps_577150_chr1_150478838 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933615 149175704 20100804_snps_577151_chr1_150478905 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 SC_SNP 1893 NG_012062.1:g.3474G>A;NM_025150.3:c.2009-432G>A;NT_004487.19:g.1967602G>A 18148156 12063698 SC-CHR1_NA17109-200402.chr1.NT_032962.5_969315 2004.02.20 2004.03.04 2004.02.28 2011.07.08 132 ABI 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 41195579 12063699 hCV26673147 2005.07.17 2005.07.17 2004.02.28 2011.09.09 132 BL 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 253488862 12063699 SNP137893_1_148745586 2010.08.18 2010.08.18 2004.02.28 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 199053095 12063699 BUSHMAN-chr1-148745585 2010.03.06 2010.03.06 2004.02.28 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 139217209 12063699 ENSSNP62180 2009.05.18 2009.10.16 2004.02.28 2011.09.09 132 GMI 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 155720189 12063699 GMI_SNP_237594890 2009.06.24 2009.06.24 2004.02.28 2011.09.09 132 HUMANGENOME_JCVI 1893 98586412 71585880 1104754582297 2008.04.01 2008.04.01 2009.02.13 2011.09.09 132 SC_SNP 1893 NG_012062.1:g.3476G>A;NM_025150.3:c.2009-430G>A;NT_004487.19:g.1967604G>A 18148157 12063699 SC-CHR1_NA17109-200402.chr1.NT_032962.5_969317 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 DEVINE_LAB 1893 NG_012062.1:g.3477_3478del2;NM_025150.3:c.2009-429_2009-428del2;NT_004487.19:g.1967605_1967606del2 101109861 72105525 INDEL_GP36_2008a_1716974_0 2008.05.17 2008.05.17 2009.02.13 2011.09.17 132 PJP 1893 NG_012062.1:g.3477_3478del2;NM_025150.3:c.2009-429_2009-428del2;NT_004487.19:g.1967605_1967606del2 294603449 72105525 DIP_41153_chr1_148745587 2011.01.21 2011.01.21 2009.02.13 2011.09.17 132 DEVINE_LAB 1893 NG_012062.1:g.3494_3495del2;NM_025150.3:c.2009-412_2009-411del2;NT_004487.19:g.1967622_1967623del2 50043021 33947970 INDEL_GP35_WGS_230421 2006.01.24 2006.01.24 2006.03.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3494_3495del2;NM_025150.3:c.2009-412_2009-411del2;NT_004487.19:g.1967622_1967623del2 50290185 33947970 INDEL_GP35_WGS_549428 2006.01.24 2006.01.24 2006.03.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3494_3495del2;NM_025150.3:c.2009-412_2009-411del2;NT_004487.19:g.1967622_1967623del2 99879060 33947970 INDEL_GP36_2007a_278053_0 2008.05.06 2008.05.06 2006.03.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3494_3495del2;NM_025150.3:c.2009-412_2009-411del2;NT_004487.19:g.1967622_1967623del2 100956901 33947970 INDEL_GP36_2008a_278053_1 2008.05.17 2008.05.17 2006.03.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3494_3495del2;NM_025150.3:c.2009-412_2009-411del2;NT_004487.19:g.1967622_1967623del2 100956904 33947970 INDEL_GP36_2008a_278053_2 2008.05.17 2008.05.17 2006.03.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3495_3496del2;NM_025150.3:c.2009-411_2009-410del2;NT_004487.19:g.1967623_1967624del2 15003534 10581752 INDEL_GP34_WGS_86081 2003.11.13 2003.11.22 2003.12.05 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3496_3497del2;NM_025150.3:c.2009-410_2009-409del2;NT_004487.19:g.1967624_1967625del2 99342599 71659653 INDEL_GP36_2007a_898023_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 101420993 56159219 INDEL_GP36_2008a_2553369_0 2008.05.17 2008.05.17 2007.12.07 2011.10.06 132 HGSV 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 77993497 56159219 Cor12156_DIV_20070510.chr1_147292063-147292066_1 2007.10.16 2007.10.16 2007.12.07 2011.10.06 132 HGSV 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 81625937 56159219 Cor18555_DIV_20070510.chr1_147292063-147292066_1 2007.12.01 2007.12.01 2007.12.07 2011.10.06 132 HGSV 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 81793839 56159219 Cor18555_DIV_20070510.chr1_147292063-147292066_2 2007.12.01 2007.12.01 2007.12.07 2011.10.06 132 HUMANGENOME_JCVI 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 95242603 56159219 1104685490360 2008.03.21 2008.12.02 2007.12.07 2011.10.06 132 PJP 1893 NG_012062.1:g.3505_3506del2;NM_025150.3:c.2009-401_2009-400del2;NT_004487.19:g.1967633_1967634del2 294603450 56159219 DIP_41154_chr1_148745615 2011.01.21 2011.01.21 2007.12.07 2011.10.06 132 HGSV 1893 NG_012062.1:g.3506_3507ins4;NM_025150.3:c.2009-400_2009-399ins4;NT_004487.19:g.1967634_1967635ins4 81668608 56830975 Cor19129_DIV_20070510.chr1_147292065-147292066_1 2007.12.01 2007.12.01 2007.12.14 2011.07.08 132 DEVINE_LAB 1893 NG_012062.1:g.3507_3508ins4;NM_025150.3:c.2009-399_2009-398ins4;NT_004487.19:g.1967635_1967636ins4 100499645 71949664 INDEL_GP36_2008a_2859653_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 132 SSAHASNP 1893 NG_012062.1:g.3515C>G;NM_025150.3:c.2009-391C>G;NT_004487.19:g.1967643C>G 20433257 12723541 WGSA-200403-chr1.chr1.NT_032962.5_969356 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 1000GENOMES 1893 326084265 142997002 JPTCHB_chr1_148745674_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1893 326087237 142997002 CEU_chr1_148745674_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.3565_3570del6;NM_025150.3:c.2009-341_2009-336del6;NT_004487.19:g.1967693_1967698del6 326114256 111359310 YRI_chr1_148745674_indel 2011.03.11 2011.04.01 2010.07.04 2011.10.06 132 BUSHMAN 1893 NG_012062.1:g.3565_3570del6;NM_025150.3:c.2009-341_2009-336del6;NT_004487.19:g.1967693_1967698del6 193127872 111359310 BUSHMAN-chr1-148745674-148745680 2010.02.16 2010.02.16 2010.07.04 2011.10.06 132 DEVINE_LAB 1893 NG_012062.1:g.3574_3579del6;NM_025150.3:c.2009-332_2009-327del6;NT_004487.19:g.1967702_1967707del6 101046467 72088318 INDEL_GP36_2008a_2859654_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 132 HGSV 1893 NG_012062.1:g.3592_3597del6;NM_025150.3:c.2009-314_2009-309del6;NT_004487.19:g.1967720_1967725del6 81668617 59687878 Cor19129_DIV_20070510.chr1_147292150-147292157_1 2007.12.01 2007.12.01 2007.12.15 2011.07.08 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.3620G>T;NM_025150.3:c.2009-286G>T;NT_004487.19:g.1967748G>T 167101814 113114236 NA20431_36_chr1_148745730 6.86e-03 2009.09.30 2009.09.30 2010.07.04 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.3638T>C;NM_025150.3:c.2009-268T>C;NT_004487.19:g.1967766T>C 199053101 112334802 BUSHMAN-chr1-148745747 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 BGI 1893 NG_012062.1:g.3949G>C;NM_025150.3:c.2052G>C;NT_004487.19:g.1968077G>C 102783308 74443150 BGI_YHSNP0143479 2008.06.04 2009.06.16 2009.12.01 2011.07.08 132 1000GENOMES 1893 NM_025150.3:c.2103G>A;NT_004487.19:g.1968128G>A 217407382 114661327 pilot_3_LWK_270_chr1_148746110 3.66e-03 2010.04.09 2010.04.09 2010.07.14 2011.07.08 132 1000GENOMES 1893 NM_025150.3:c.2103G>A;NT_004487.19:g.1968128G>A 217412423 114661327 pilot_3_YRI_265_chr1_148746110 3.66e-03 2010.04.09 2010.04.09 2010.07.14 2011.07.08 132 1000GENOMES 1893 NM_025150.3:c.2103G>A;NT_004487.19:g.1968128G>A 218638381 114661327 pilot_1_YRI_448064_chr1_148746110 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.07.08 132 NHLBI-ESP 1893 NM_025150.3:c.2103G>A;NT_004487.19:g.1968128G>A 341989206 114661327 ESP2500-chr1-150479486 3.66e-03 2011.03.25 2011.03.25 2010.07.14 2011.07.08 132 1000GENOMES 1893 NM_025150.3:c.*65C>T;NT_004487.19:g.1968247C>T 230723249 114293104 pilot_1_CEU_327878_chr1_148746229 9.14e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.4209C>T;NM_025150.3:c.*155C>T;NT_004487.19:g.1968337C>T 199053105 113190214 BUSHMAN-chr1-148746318 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1893 326114258 147034374 YRI_chr1_148746371_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 DEVINE_LAB 1893 NG_012062.1:g.4270_4271insA;NT_004487.19:g.1968398_1968399insA;NM_025150.3:c.*216->A 101181611 72121396 INDEL_GP36_2008a_2723121_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 132 1000GENOMES 1893 328933617 138986385 20100804_snps_577153_chr1_150479842 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 454372691 182507817 20101123_snps_539921_chr1_150479849 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 1893 NG_012062.1:g.4365C>T;NT_004487.19:g.1968493C>T 199053110 112650803 BUSHMAN-chr1-148746474 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 328933618 1815544 20100804_snps_577154_chr1_150479901 2.44e-01 2011.03.22 2011.03.22 2001.01.12 2011.09.09 132 ABI 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 41133953 1815544 hCV26673146 2.44e-01 2005.07.17 2005.07.17 2001.01.12 2011.09.09 132 CGAP-GAI 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 16255161 1815544 1510099 2.44e-01 2003.11.18 2003.11.22 2001.01.12 2011.09.09 132 GMI 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 155720197 1815544 GMI_SNP_197933793 2.44e-01 2009.06.24 2009.06.24 2001.01.12 2011.09.09 132 TSC-CSHL 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 2681211 1815544 TSC0369032 2.44e-01 2001.01.02 2003.10.10 2001.01.12 2011.09.09 132 YUSUKE 1893 NG_012062.1:g.4415C>T;NT_004487.19:g.1968543C>T 4940246 1815544 IMS-JST107201 2.44e-01 2002.08.01 2003.10.10 2001.01.12 2011.09.09 132 1000GENOMES 1893 328933619 146086499 20100804_snps_577155_chr1_150479914 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 454372692 187497780 20101123_snps_539922_chr1_150479917 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 454372693 191905591 20101123_snps_539923_chr1_150479970 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 328933620 1815545 20100804_snps_577156_chr1_150479977 4.83e-01 2011.03.22 2011.03.22 2001.01.12 2011.09.09 132 ABI 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 41301779 1815545 hCV11845597 4.83e-01 2005.07.17 2005.07.17 2001.01.12 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 199053111 1815545 BUSHMAN-chr1-148746600 4.83e-01 2010.03.06 2010.03.06 2001.01.12 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 164064334 1815545 NA19240_36_chr1_148746601 4.83e-01 2009.09.29 2009.09.29 2001.01.12 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 167101822 1815545 NA20431_36_chr1_148746601 4.83e-01 2009.09.30 2009.09.30 2001.01.12 2011.09.09 132 CSHL-HAPMAP 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 17332542 1815545 CSHL-HuCC-200402.chr1.NT_032962.5_970332 4.83e-01 2004.02.19 2004.03.04 2001.01.12 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 143983977 1815545 ENSSNP62181 4.83e-01 2009.06.06 2009.10.17 2001.01.12 2011.09.09 132 GMI 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 155720205 1815545 GMI_SNP_238715579 4.83e-01 2009.06.24 2009.06.24 2001.01.12 2011.09.09 132 HGSV 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 78087080 1815545 Cor12878_SNV_20070510.chr1_147293050 4.83e-01 2007.10.17 2007.10.17 2001.01.12 2011.09.09 132 HUMANGENOME_JCVI 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 99248775 1815545 1103675221640 4.83e-01 2008.04.03 2008.04.03 2001.01.12 2011.09.09 132 PJP 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 290632147 1815545 SNP_138505_chr1_148746601 4.83e-01 2011.01.21 2011.01.21 2001.01.12 2011.09.09 132 TSC-CSHL 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 2681212 1815545 TSC0369033 4.83e-01 2001.01.02 2004.04.07 2001.01.12 2011.09.09 132 YUSUKE 1893 NG_012062.1:g.4491A>G;NT_004487.19:g.1968619A>G 4940247 1815545 IMS-JST107202 4.83e-01 2002.08.01 2003.10.10 2001.01.12 2011.09.09 132 1000GENOMES 1893 326114262 148064747 YRI_chr1_148746666_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 DEVINE_LAB 1893 NG_012062.1:g.4574_4575ins8;NT_004487.19:g.1968702_1968703ins8 101788594 72275648 INDEL_GP36_2008a_1542925_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 1893 NG_012062.1:g.4582_4583ins8;NT_004487.19:g.1968710_1968711ins8 95242604 71086517 1104685490361 2008.03.21 2008.12.02 2009.02.13 2011.07.08 132 1000GENOMES 1893 454372694 183323891 20101123_snps_539924_chr1_150480312 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 108579957 3754217 CEU.trio.12.15.2008_157697_chr1_148746997 4.54e-01 2008.12.16 2008.12.16 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 210635755 3754217 YRI.trio.3.2010_63760_chr1_148746997 4.54e-01 2010.03.29 2010.03.29 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 218638382 3754217 pilot_1_YRI_448065_chr1_148746997 4.54e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 230723250 3754217 pilot_1_CEU_327879_chr1_148746997 4.54e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 238372773 3754217 pilot_1_CHB+JPT_257850_chr1_148746997 4.54e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 BCMHGSC_JDW 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 87815749 3754217 JWB-0124784 4.54e-01 2008.02.26 2008.02.26 2002.08.28 2011.09.09 132 BUSHMAN 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 199053117 3754217 BUSHMAN-chr1-148746996 4.54e-01 2010.03.06 2010.03.06 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 164064349 3754217 NA19240_36_chr1_148746997 4.54e-01 2009.09.29 2009.09.29 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 167101831 3754217 NA20431_36_chr1_148746997 4.54e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 138078841 3754217 ENSSNP6650845 4.54e-01 2009.05.16 2009.05.16 2002.08.28 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 143220359 3754217 ENSSNP9584145 4.54e-01 2009.06.06 2009.10.17 2002.08.28 2011.09.09 132 GMI 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 155720213 3754217 GMI_SNP_36523426 4.54e-01 2009.06.24 2009.06.24 2002.08.28 2011.09.09 132 HGSV 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 82668295 3754217 Cor18956_SNV_20070510.chr1_147293446 4.54e-01 2007.12.03 2007.12.03 2002.08.28 2011.09.09 132 HUMANGENOME_JCVI 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 99248776 3754217 1103675221642 4.54e-01 2008.04.03 2008.04.03 2002.08.28 2011.09.09 132 ILLUMINA 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 75141446 3754217 ILMN_Human_1M_rs3754217 4.54e-01 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 173625109 3754217 Human1M-Duov3_B_rs3754217-128_T_R_1514103337 4.54e-01 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 ILLUMINA-UK 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 119019150 3754217 NA18507_000143556_NCBI36.1_chr1_148746997 4.54e-01 2009.01.22 2009.01.22 2002.08.28 2011.09.09 132 KRIBB_YJKIM 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 119460115 3754217 KHS1622362 4.54e-01 2009.02.04 2009.02.04 2002.08.28 2011.09.09 132 KYUGEN 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 35075604 3754217 QH13230 4.54e-01 2005.03.04 2006.11.02 2002.08.28 2011.09.09 132 KYUGEN 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 35075605 3754217 QH13307 4.54e-01 2005.03.04 2006.11.02 2002.08.28 2011.09.09 132 PERLEGEN 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 24275637 3754217 afd1107002 4.54e-01 2004.08.21 2004.09.13 2002.08.28 2011.09.09 132 PJP 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 290632148 3754217 SNP_138506_chr1_148746997 4.54e-01 2011.01.21 2011.01.21 2002.08.28 2011.09.09 132 WI_SSAHASNP 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 6880636 3754217 NT_037496.1_35159 4.54e-01 2003.02.14 2004.05.28 2002.08.28 2011.09.09 132 YUSUKE 1893 NG_012062.1:g.4887G>T;NT_004487.19:g.1969015G>T 4940248 3754217 IMS-JST107203 4.54e-01 2002.08.01 2003.10.10 2002.08.28 2011.09.09 132 1000GENOMES 1893 328933621 141248191 20100804_snps_577157_chr1_150480473 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.-187G>T;NT_004487.19:g.1969141G>T;NM_022664.2:c.-187G>T;NT_004487.19:g.1969141G>T 218638383 114886536 pilot_1_YRI_448066_chr1_148747123 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 218638384 12724450 pilot_1_YRI_448067_chr1_148747195 5.71e-02 2010.04.22 2010.04.22 2004.04.05 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 230723251 12724450 pilot_1_CEU_327880_chr1_148747195 5.71e-02 2010.05.01 2010.05.01 2004.04.05 2011.10.06 132 ABI 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 44034202 12724450 hCV25951682 5.71e-02 2005.07.18 2006.11.03 2004.04.05 2011.10.06 132 AFFY 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 74833009 12724450 SNP_M-590057 5.71e-02 2007.08.09 2007.08.09 2004.04.05 2011.10.06 132 AFFY 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 76471088 12724450 AFFY_6_1M_SNP_A-8331914 5.71e-02 2007.08.30 2007.08.30 2004.04.05 2011.10.06 132 BL 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 253488866 12724450 SNP137894_1_148747195 5.71e-02 2010.08.18 2010.08.18 2004.04.05 2011.10.06 132 BUSHMAN 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 199053121 12724450 BUSHMAN-chr1-148747194 5.71e-02 2010.03.06 2010.03.06 2004.04.05 2011.10.06 132 ENSEMBL 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 143558386 12724450 ENSSNP8533170 5.71e-02 2009.06.06 2009.10.19 2004.04.05 2011.10.06 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 99248777 12724450 1103675221643 5.71e-02 2008.04.03 2008.04.03 2004.04.05 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 75061229 12724450 ILMN_Human_1M_rs12724450 5.71e-02 2007.08.29 2007.08.29 2004.04.05 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 160297068 12724450 HumanOmni1-Quad_v1-0_B_rs12724450-128_T_F_1514029283 5.71e-02 2009.08.06 2009.10.02 2004.04.05 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 172233584 12724450 Human1M-Duov3_B_rs12724450-128_T_F_1514029283 5.71e-02 2009.10.02 2009.10.02 2004.04.05 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 410901880 12724450 Cardio-Metabo_Chip_11395247_A_rs12724450 5.71e-02 2011.06.07 2011.06.07 2004.04.05 2011.10.06 132 KRIBB_YJKIM 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 119808574 12724450 KHS1854187 5.71e-02 2009.02.05 2009.02.05 2004.04.05 2011.10.06 132 PERLEGEN 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 68780008 12724450 PGP07379354 5.71e-02 2007.01.30 2008.03.31 2004.04.05 2011.10.06 132 SSAHASNP 1893 NM_004425.3:c.-115G>A;NG_012062.1:g.5085G>A;NM_004425.3:c.-115G>A;NT_004487.19:g.1969213G>A;NM_022664.2:c.-115G>A;NT_004487.19:g.1969213G>A 20437489 12724450 WGSA-200403-chr1.chr1.NT_032962.5_970926 5.71e-02 2004.03.18 2004.03.18 2004.04.05 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.-97G>A;NT_004487.19:g.1969231G>A;NM_022664.2:c.-97G>A;NT_004487.19:g.1969231G>A 218638385 116220997 pilot_1_YRI_448068_chr1_148747213 2.65e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 LEE 1893 NM_004425.3:c.-65C>G;NG_012062.1:g.5135C>G;NM_004425.3:c.-65C>G;NT_004487.19:g.1969263C>G;NM_022664.2:c.-65C>G;NT_004487.19:g.1969263C>G 1525888 1050867 427228 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 BUSHMAN 1893 NM_004425.3:c.70+44T>C;NG_012062.1:g.5313T>C;NM_004425.3:c.70+44T>C;NT_004487.19:g.1969441T>C;NM_022664.2:c.70+44T>C;NT_004487.19:g.1969441T>C 199053123 111652079 BUSHMAN-chr1-148747422 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1893 328933622 150781054 20100804_snps_577158_chr1_150480830 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 454372695 189125874 20101123_snps_539925_chr1_150480840 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 454372696 193075745 20101123_snps_539926_chr1_150480856 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HGSV 1893 NM_004425.3:c.70+345G>T;NG_012062.1:g.5614G>T;NM_004425.3:c.70+345G>T;NT_004487.19:g.1969742G>T;NM_022664.2:c.70+345G>T;NT_004487.19:g.1969742G>T 78413232 56173948 Cor12878_SNV_20070510.chr1_147294173 2007.10.19 2007.10.19 2007.12.07 2011.07.08 132 1000GENOMES 1893 454372697 183902011 20101123_snps_539927_chr1_150481406 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 1893 NM_004425.3:c.71-570_71-569insC;NG_012062.1:g.5951_5952insC;NM_004425.3:c.71-570_71-569insC;NT_004487.19:g.1970079_1970080insC;NM_022664.2:c.71-570_71-569insC;NT_004487.19:g.1970079_1970080insC 41343858 36057921 hCV33598260 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 1893 454372698 186784190 20101123_snps_539928_chr1_150481556 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 1893 NM_004425.3:c.71-435_71-434insC;NG_012062.1:g.6086_6087insC;NM_004425.3:c.71-435_71-434insC;NT_004487.19:g.1970214_1970215insC;NM_022664.2:c.71-435_71-434insC;NT_004487.19:g.1970214_1970215insC 41076120 34468797 hCV33598259 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 1893 328933623 137979214 20100804_snps_577159_chr1_150481576 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 1893 NM_004425.3:c.71-402G>A;NG_012062.1:g.6119G>A;NM_004425.3:c.71-402G>A;NT_004487.19:g.1970247G>A;NM_022664.2:c.71-402G>A;NT_004487.19:g.1970247G>A 43913933 35269826 hCV7997080 2005.07.18 2005.07.18 2006.03.15 2011.07.08 132 DEVINE_LAB 1893 NM_004425.3:c.71-303T>G;NG_012062.1:g.6218T>G;NM_004425.3:c.71-303T>G;NT_004487.19:g.1970346T>G;NM_022664.2:c.71-303T>G;NT_004487.19:g.1970346T>G 7865829 4995236 DB_1_129506 2003.03.16 2003.10.10 2003.03.31 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.71-303T>G;NG_012062.1:g.6218T>G;NM_004425.3:c.71-303T>G;NT_004487.19:g.1970346T>G;NM_022664.2:c.71-303T>G;NT_004487.19:g.1970346T>G 160736119 4995236 HumanOmni1-Quad_v1-0_B_rs4995236-128_T_R_1572723162 2009.08.07 2009.10.04 2003.03.31 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.71-275C>T;NG_012062.1:g.6246C>T;NM_004425.3:c.71-275C>T;NT_004487.19:g.1970374C>T;NM_022664.2:c.71-275C>T;NT_004487.19:g.1970374C>T 218638386 79438522 pilot_1_YRI_448069_chr1_148748356 6.86e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 108579961 11205386 CEU.trio.12.15.2008_157698_chr1_148748362 8.64e-02 2008.12.16 2008.12.16 2004.02.27 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 230723252 11205386 pilot_1_CEU_327881_chr1_148748362 8.64e-02 2010.05.01 2010.05.01 2004.02.27 2011.09.09 132 ABI 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 44045696 11205386 hCV7997079 8.64e-02 2005.07.18 2006.11.03 2004.02.27 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 167101839 11205386 NA20431_36_chr1_148748362 8.64e-02 2009.09.30 2009.09.30 2004.02.27 2011.09.09 132 CSHL-HAPMAP 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 16397574 11205386 CSHL-HuAA-200402.chr1.NT_032962.5_972093 8.64e-02 2004.02.17 2004.03.04 2004.02.27 2011.09.09 132 HGSV 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 78478988 11205386 Cor12878_SNV_20070510.chr1_147294811 8.64e-02 2007.10.19 2007.10.19 2004.02.27 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 159969706 11205386 HumanOmni1-Quad_v1-0_B_rs11205386-128_T_R_1572717874 8.64e-02 2009.08.04 2009.10.01 2004.02.27 2011.09.09 132 SC_SNP 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 18252426 11205386 SC-CHR1_NA07340-200402.chr1.NT_032962.5_972093 8.64e-02 2004.02.20 2004.03.04 2004.02.27 2011.09.09 132 SI_EXO 1893 NM_004425.3:c.71-269C>T;NG_012062.1:g.6252C>T;NM_004425.3:c.71-269C>T;NT_004487.19:g.1970380C>T;NM_022664.2:c.71-269C>T;NT_004487.19:g.1970380C>T 71648171 11205386 NT_004487.18_972093 8.64e-02 2007.05.07 2008.03.31 2004.02.27 2011.09.09 132 PERLEGEN 1893 NM_004425.3:c.71-195C>T;NG_012062.1:g.6326C>T;NM_004425.3:c.71-195C>T;NT_004487.19:g.1970454C>T;NM_022664.2:c.71-195C>T;NT_004487.19:g.1970454C>T 23203141 16837292 afd1107003 2004.08.20 2004.08.20 2004.09.20 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.71-111C>T;NT_004487.19:g.1970538C>T;NM_022664.2:c.71-111C>T;NT_004487.19:g.1970538C>T 218638387 116804526 pilot_1_YRI_448070_chr1_148748520 2.51e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1893 454372699 191917056 20101123_snps_539929_chr1_150481912 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.71-25C>T;NG_012062.1:g.6496C>T;NM_004425.3:c.71-25C>T;NT_004487.19:g.1970624C>T;NM_022664.2:c.71-25C>T;NT_004487.19:g.1970624C>T 230723253 75772057 pilot_1_CEU_327882_chr1_148748606 1.51e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 NHLBI-ESP 1893 341989208 139236527 ESP2500-chr1-150482013 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.121+20G>A;NG_012062.1:g.6591G>A;NM_004425.3:c.121+20G>A;NT_004487.19:g.1970719G>A;NM_022664.2:c.121+20G>A;NT_004487.19:g.1970719G>A 328933624 74127651 20100804_snps_577160_chr1_150482077 9.60e-03 2011.03.22 2011.03.22 2009.02.15 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.121+20G>A;NG_012062.1:g.6591G>A;NM_004425.3:c.121+20G>A;NT_004487.19:g.1970719G>A;NM_022664.2:c.121+20G>A;NT_004487.19:g.1970719G>A 119019153 74127651 NA18507_000143557_NCBI36.1_chr1_148748701 9.60e-03 2009.01.22 2009.01.22 2009.02.15 2011.09.09 132 1000GENOMES 1893 328933625 145971597 20100804_snps_577161_chr1_150482145 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989210 145971597 ESP2500-chr1-150482145 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 454372700 184213225 20101123_snps_539930_chr1_150482159 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 OMIM-CURATED-RECORDS 1893 NP_004416.2:p.ARG53TER NM_004425.3:c.157C>T;NG_012062.1:g.6686C>T;NP_004416.2:p.Arg53X;NM_004425.3:c.157C>T;NT_004487.19:g.1970814C>T;NP_004416.2:p.Arg53X;NM_022664.2:c.157C>T;NT_004487.19:g.1970814C>T;NP_073155.2:p.Arg53X 263193556 121909115 10831 Germline probable-pathogenic 2010.10.28 2010.10.28 2010.10.28 2011.07.08 132 NHLBI-ESP 1893 341989211 149177710 ESP2500-chr1-150482173 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.223+17A>G;NG_012062.1:g.6769A>G;NM_004425.3:c.223+17A>G;NT_004487.19:g.1970897A>G;NM_022664.2:c.223+17A>G;NT_004487.19:g.1970897A>G 108579965 41264469 CEU.trio.12.15.2008_157699_chr1_148748879 7.18e-02 2008.12.16 2008.12.16 2006.10.18 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.223+17A>G;NG_012062.1:g.6769A>G;NM_004425.3:c.223+17A>G;NT_004487.19:g.1970897A>G;NM_022664.2:c.223+17A>G;NT_004487.19:g.1970897A>G 230723254 41264469 pilot_1_CEU_327883_chr1_148748879 7.18e-02 2010.05.01 2010.05.01 2006.10.18 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.223+17A>G;NG_012062.1:g.6769A>G;NM_004425.3:c.223+17A>G;NT_004487.19:g.1970897A>G;NM_022664.2:c.223+17A>G;NT_004487.19:g.1970897A>G 167101847 41264469 NA20431_36_chr1_148748879 7.18e-02 2009.09.30 2009.09.30 2006.10.18 2011.09.09 132 SI_EXO 1893 NM_004425.3:c.223+17A>G;NG_012062.1:g.6769A>G;NM_004425.3:c.223+17A>G;NT_004487.19:g.1970897A>G;NM_022664.2:c.223+17A>G;NT_004487.19:g.1970897A>G 52053234 41264469 NT_004487.17_972610 7.18e-02 2006.03.29 2006.03.29 2006.10.18 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.223+40G>T;NT_004487.19:g.1970920G>T;NM_022664.2:c.223+40G>T;NT_004487.19:g.1970920G>T 218638388 114699131 pilot_1_YRI_448071_chr1_148748902 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 ABI 1893 NM_004425.3:c.224-13delC;NG_012062.1:g.6899delC;NM_004425.3:c.224-13delC;NT_004487.19:g.1971027delC;NM_022664.2:c.224-13delC;NT_004487.19:g.1971027delC 41327851 35528649 hCV33598256 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.231C>T;NT_004487.19:g.1971047C>T;NM_022664.2:c.231C>T;NT_004487.19:g.1971047C>T 218638389 115614690 pilot_1_YRI_448072_chr1_148749029 9.14e-03 2010.04.22 2010.04.22 2010.07.14 2011.07.08 132 NHLBI-ESP 1893 NM_004425.3:c.231C>T;NT_004487.19:g.1971047C>T;NM_022664.2:c.231C>T;NT_004487.19:g.1971047C>T 341989213 115614690 ESP2500-chr1-150482405 9.14e-03 2011.03.25 2011.03.25 2010.07.14 2011.07.08 132 1000GENOMES 1893 454372701 189389940 20101123_snps_539931_chr1_150482428 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 1893 341989216 148170920 ESP2500-chr1-150482451 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ABI 1893 NM_004425.3:c.296delA;NG_012062.1:g.6984delA;NP_004416.2:p.Glu99fx;NM_004425.3:c.296delA;NT_004487.19:g.1971112delA;NP_004416.2:p.Glu99fx;NM_022664.2:c.296delA;NT_004487.19:g.1971112delA;NP_073155.2:p.Glu99fx 41292252 34875812 hCV33598255 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.366C>T;NG_012062.1:g.7153C>T;NM_004425.3:c.366C>T;NT_004487.19:g.1971281C>T;NM_022664.2:c.366C>T;NT_004487.19:g.1971281C>T 218638390 74352693 pilot_1_YRI_448073_chr1_148749263 1.14e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 NHLBI-ESP 1893 NM_004425.3:c.366C>T;NG_012062.1:g.7153C>T;NM_004425.3:c.366C>T;NT_004487.19:g.1971281C>T;NM_022664.2:c.366C>T;NT_004487.19:g.1971281C>T 341989218 74352693 ESP2500-chr1-150482639 1.14e-02 2011.03.25 2011.03.25 2009.12.01 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 108579969 11205387 CEU.trio.12.15.2008_157700_chr1_148749362 2.78e-01 2008.12.16 2008.12.16 2004.02.27 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 111116437 11205387 NA19240_2008_12_16_144087_chr1_148749362 2.78e-01 2008.12.17 2008.12.17 2004.02.27 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 218638391 11205387 pilot_1_YRI_448074_chr1_148749362 2.78e-01 2010.04.22 2010.04.22 2004.02.27 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 230723255 11205387 pilot_1_CEU_327884_chr1_148749362 2.78e-01 2010.05.01 2010.05.01 2004.02.27 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 238372774 11205387 pilot_1_CHB+JPT_257851_chr1_148749362 2.78e-01 2010.05.01 2010.05.01 2004.02.27 2011.09.09 132 ABI 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 41314644 11205387 hCV1743965 2.78e-01 2005.07.17 2006.11.03 2004.02.27 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 199053130 11205387 BUSHMAN-chr1-148749361 2.78e-01 2010.03.06 2010.03.06 2004.02.27 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 164064356 11205387 NA19240_36_chr1_148749362 2.78e-01 2009.09.29 2009.09.29 2004.02.27 2011.09.09 132 CSHL-HAPMAP 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 16392612 11205387 CSHL-HuAA-200402.chr1.NT_032962.5_973093 2.78e-01 2004.02.17 2004.03.04 2004.02.27 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 161173231 11205387 ENSSNP62182 2.78e-01 2009.09.24 2010.03.07 2004.02.27 2011.09.09 132 GMI 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 155720221 11205387 GMI_SNP_36577912 2.78e-01 2009.06.24 2009.06.24 2004.02.27 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 75029634 11205387 ILMN_Human_1M_rs11205387 2.78e-01 2007.08.29 2007.08.29 2004.02.27 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 159969707 11205387 HumanOmni1-Quad_v1-0_B_rs11205387-128_B_R_1513986229 2.78e-01 2009.08.04 2009.10.01 2004.02.27 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 171162564 11205387 Human1M-Duov3_B_rs11205387-128_B_R_1513986229 2.78e-01 2009.10.01 2009.10.01 2004.02.27 2011.09.09 132 KRIBB_YJKIM 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 119677796 11205387 KHS1804956 2.78e-01 2009.02.05 2009.02.05 2004.02.27 2011.09.09 132 PERLEGEN 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 68780009 11205387 PGP07512019 2.78e-01 2007.01.30 2008.03.31 2004.02.27 2011.09.09 132 SC_SNP 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 18075438 11205387 SC-CHR1_NA11321-200402.chr1.NT_032962.5_973093 2.78e-01 2004.02.20 2004.03.04 2004.02.27 2011.09.09 132 SI_EXO 1893 NM_004425.3:c.385+80G>A;NG_012062.1:g.7252G>A;NM_004425.3:c.385+80G>A;NT_004487.19:g.1971380G>A;NM_022664.2:c.385+80G>A;NT_004487.19:g.1971380G>A 52068839 11205387 NT_004487.17_973093 2.78e-01 2006.03.29 2008.03.31 2004.02.27 2011.09.09 132 1000GENOMES 1893 454372702 182061872 20101123_snps_539932_chr1_150482809 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 328933626 139793095 20100804_snps_577162_chr1_150482847 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933627 143187187 20100804_snps_577163_chr1_150483006 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.386-184C>G;NG_012062.1:g.7682C>G;NM_004425.3:c.386-184C>G;NT_004487.19:g.1971810C>G;NM_022664.2:c.386-184C>G;NT_004487.19:g.1971810C>G 138078842 77923375 ENSSNP11629570 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 108579973 9661040 CEU.trio.12.15.2008_157701_chr1_148749860 4.52e-01 2008.12.16 2008.12.16 2003.12.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 111116445 9661040 NA19240_2008_12_16_144088_chr1_148749860 4.52e-01 2008.12.17 2008.12.17 2003.12.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 218638392 9661040 pilot_1_YRI_448075_chr1_148749860 4.52e-01 2010.04.22 2010.04.22 2003.12.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 230723256 9661040 pilot_1_CEU_327885_chr1_148749860 4.52e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 238372775 9661040 pilot_1_CHB+JPT_257852_chr1_148749860 4.52e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 ABI 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 44019315 9661040 hCV1743966 4.52e-01 2005.07.18 2008.03.31 2003.12.05 2011.09.09 132 AFFY 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 66289303 9661040 SNP_A-1818513 4.52e-01 2006.10.29 2008.03.31 2003.12.05 2011.09.09 132 AFFY 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 75952621 9661040 AFFY_6_1M_SNP_A-1818513 4.52e-01 2007.08.29 2010.03.07 2003.12.05 2011.09.09 132 AFFY 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 169600460 9661040 GenomeWideSNP_5_SNP_A-1818513 4.52e-01 2009.10.01 2009.10.01 2003.12.05 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 87815751 9661040 JWB-0124785 4.52e-01 2008.02.26 2008.02.26 2003.12.05 2011.09.09 132 BL 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 253488870 9661040 SNP137895_1_148749860 4.52e-01 2010.08.18 2010.08.18 2003.12.05 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 199053132 9661040 BUSHMAN-chr1-148749859 4.52e-01 2010.03.06 2010.03.06 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 164064366 9661040 NA19240_36_chr1_148749860 4.52e-01 2009.09.29 2009.09.29 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 167101855 9661040 NA20431_36_chr1_148749860 4.52e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 139217206 9661040 ENSSNP62183 4.52e-01 2009.05.18 2009.10.16 2003.12.05 2011.09.09 132 GMI 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 155720229 9661040 GMI_SNP_72098198 4.52e-01 2009.06.24 2009.06.24 2003.12.05 2011.09.09 132 HGSV 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 78080964 9661040 Cor12878_SNV_20070510.chr1_147296309 4.52e-01 2007.10.17 2007.10.17 2003.12.05 2011.09.09 132 HGSV 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 81476835 9661040 Cor18555_SNV_20070510.chr1_147296309 4.52e-01 2007.11.30 2007.11.30 2003.12.05 2011.09.09 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 99248778 9661040 1103675221644 4.52e-01 2008.04.03 2008.04.03 2003.12.05 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 119019156 9661040 NA18507_000143558_NCBI36.1_chr1_148749860 4.52e-01 2009.01.22 2009.01.22 2003.12.05 2011.09.09 132 KRIBB_YJKIM 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 82607530 9661040 KHS291765 4.52e-01 2007.12.03 2007.12.03 2003.12.05 2011.09.09 132 PJP 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 290632149 9661040 SNP_138507_chr1_148749860 4.52e-01 2011.01.21 2011.01.21 2003.12.05 2011.09.09 132 SSAHASNP 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 20437530 9661040 WGSA-200403-chr1.chr1.NT_032962.5_973591 4.52e-01 2004.03.18 2004.03.18 2003.12.05 2011.09.09 132 WI_SSAHASNP 1893 NM_004425.3:c.386-116A>C;NG_012062.1:g.7750A>C;NM_004425.3:c.386-116A>C;NT_004487.19:g.1971878A>C;NM_022664.2:c.386-116A>C;NT_004487.19:g.1971878A>C 13456115 9661040 chr1.NT_032962.5_973591 4.52e-01 2003.10.31 2003.11.10 2003.12.05 2011.09.09 132 1000GENOMES 1893 328933628 146386548 20100804_snps_577164_chr1_150483239 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 108579977 3737240 CEU.trio.12.15.2008_157702_chr1_148749979 2.45e-01 2008.12.16 2008.12.16 2002.08.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 218638393 3737240 pilot_1_YRI_448076_chr1_148749979 2.45e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 230723257 3737240 pilot_1_CEU_327886_chr1_148749979 2.45e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 238372776 3737240 pilot_1_CHB+JPT_257853_chr1_148749979 2.45e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 87815754 3737240 JWB-0124786 2.45e-01 2008.02.26 2008.02.26 2002.08.28 2011.09.09 132 CGAP-GAI 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 16230376 3737240 1468882 2.45e-01 2003.11.18 2003.11.22 2002.08.28 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 138078843 3737240 ENSSNP6534728 2.45e-01 2009.05.16 2009.05.16 2002.08.28 2011.09.09 132 GMI 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 155720237 3737240 GMI_SNP_132956184 2.45e-01 2009.06.24 2009.06.24 2002.08.28 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 74866662 3737240 ILMN_Human_1M_rs3737240 2.45e-01 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 161040690 3737240 HumanOmni1-Quad_v1-0_B_SNP1-148749979-0_T_R_1588067866 2.45e-01 2009.08.07 2009.10.05 2002.08.28 2011.09.09 132 MGC_GENOME_DIFF 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 28506443 3737240 BC023505x37546839-C973710T 2.45e-01 2004.08.25 2006.11.02 2002.08.28 2011.09.09 132 NHLBI-ESP 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 341989221 3737240 ESP2500-chr1-150483355 2.45e-01 2011.03.25 2011.03.25 2002.08.28 2011.09.09 132 PERLEGEN 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 68780010 3737240 PGP01107008 2.45e-01 2007.01.30 2008.03.31 2002.08.28 2011.09.09 132 SEATTLESEQ 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 159698616 3737240 ECM1-148749979 2.45e-01 2009.07.10 2009.07.10 2002.08.28 2011.09.09 132 SI_EXO 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 76885170 3737240 NT_004487.18_973710 2.45e-01 2007.09.20 2007.09.20 2002.08.28 2011.09.09 132 YUSUKE 1893 NM_004425.3:c.389C>T;NG_012062.1:g.7869C>T;NP_004416.2:p.Thr130Met;NM_004425.3:c.389C>T;NT_004487.19:g.1971997C>T;NP_004416.2:p.Thr130Met;NM_022664.2:c.389C>T;NT_004487.19:g.1971997C>T;NP_073155.2:p.Thr130Met 4923239 3737240 IMS-JST082283 2.45e-01 2002.07.24 2003.10.10 2002.08.28 2011.09.09 132 LEE 1893 NM_004425.3:c.492G>C;NG_012062.1:g.7972G>C;NM_004425.3:c.492G>C;NT_004487.19:g.1972100G>C;NM_022664.2:c.492G>C;NT_004487.19:g.1972100G>C 1525897 1050874 427398 2000.09.13 2004.05.16 2000.10.05 2011.07.08 132 LEE 1893 NM_004425.3:c.492G>C;NG_012062.1:g.7972G>C;NM_004425.3:c.492G>C;NT_004487.19:g.1972100G>C;NM_022664.2:c.492G>C;NT_004487.19:g.1972100G>C 4416397 1050874 e427405 2002.04.26 2003.10.10 2000.10.05 2011.07.08 132 OMIM-CURATED-RECORDS 1893 NP_004416.2:p.PHE167ILE NM_004425.3:c.499T>A;NG_012062.1:g.7979T>A;NP_004416.2:p.Phe167Ile;NM_004425.3:c.499T>A;NT_004487.19:g.1972107T>A;NP_004416.2:p.Phe167Ile;NM_022664.2:c.499T>A;NT_004487.19:g.1972107T>A;NP_073155.2:p.Phe167Ile 263193557 121909116 10832 Germline probable-pathogenic 2010.10.28 2010.10.28 2010.10.28 2011.07.08 132 NHLBI-ESP 1893 NM_004425.3:c.505C>G;NG_012062.1:g.7985C>G;NP_004416.2:p.Pro169Ala;NM_004425.3:c.505C>G;NT_004487.19:g.1972113C>G;NP_004416.2:p.Pro169Ala;NM_022664.2:c.505C>G;NT_004487.19:g.1972113C>G;NP_073155.2:p.Pro169Ala 341989222 41264471 ESP2500-chr1-150483471 2011.03.25 2011.03.25 2006.10.18 2011.07.08 132 SI_EXO 1893 NM_004425.3:c.505C>G;NG_012062.1:g.7985C>G;NP_004416.2:p.Pro169Ala;NM_004425.3:c.505C>G;NT_004487.19:g.1972113C>G;NP_004416.2:p.Pro169Ala;NM_022664.2:c.505C>G;NT_004487.19:g.1972113C>G;NP_073155.2:p.Pro169Ala 52053235 41264471 NT_004487.17_973826 2006.03.29 2006.03.29 2006.10.18 2011.07.08 132 BCMHGSC_JDW 1893 NM_004425.3:c.508G>C;NG_012062.1:g.7988G>C;NP_004416.2:p.Gly170Arg;NM_004425.3:c.508G>C;NT_004487.19:g.1972116G>C;NP_004416.2:p.Gly170Arg;NM_022664.2:c.508G>C;NT_004487.19:g.1972116G>C;NP_073155.2:p.Gly170Arg 87815755 61819390 JWB-2743171 2008.02.26 2008.02.26 2008.03.24 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.508G>C;NG_012062.1:g.7988G>C;NP_004416.2:p.Gly170Arg;NM_004425.3:c.508G>C;NT_004487.19:g.1972116G>C;NP_004416.2:p.Gly170Arg;NM_022664.2:c.508G>C;NT_004487.19:g.1972116G>C;NP_073155.2:p.Gly170Arg 138078844 61819390 ENSSNP11629572 2009.05.16 2009.05.16 2008.03.24 2011.09.09 132 NHLBI-ESP 1893 341989224 144580171 ESP2500-chr1-150483492 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989227 150625690 ESP2500-chr1-150483519 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 BUSHMAN 1893 NM_004425.3:c.578G>A;NG_012062.1:g.8058G>A;NP_004416.2:p.Trp193X;NM_004425.3:c.578G>A;NT_004487.19:g.1972186G>A;NP_004416.2:p.Trp193X;NM_022664.2:c.578G>A;NT_004487.19:g.1972186G>A;NP_073155.2:p.Trp193X 199053137 111360684 BUSHMAN-chr1-148750167 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 1893 341989228 139761206 ESP2500-chr1-150483569 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989230 147909184 ESP2500-chr1-150483580 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989233 145380604 ESP2500-chr1-150483620 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 454372703 185031855 20101123_snps_539933_chr1_150483622 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HGSV 1893 NM_004425.3:c.674G>A;NG_012062.1:g.8154G>A;NP_004416.2:p.Ser225Asn;NM_004425.3:c.674G>A;NT_004487.19:g.1972282G>A;NP_004416.2:p.Ser225Asn;NM_022664.2:c.674G>A;NT_004487.19:g.1972282G>A;NP_073155.2:p.Ser225Asn 84888213 61343114 Cor19240_SNV_20070510.chr1_147296713 2007.12.08 2007.12.08 2007.12.16 2011.07.08 132 1000GENOMES 1893 454372704 190769895 20101123_snps_539934_chr1_150483652 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 454372705 181802476 20101123_snps_539935_chr1_150483697 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 454372706 185246960 20101123_snps_539936_chr1_150483706 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.708+65G>A;NT_004487.19:g.1972381G>A;NM_022664.2:c.708+65G>A;NT_004487.19:g.1972381G>A 238372777 117808418 pilot_1_CHB+JPT_257854_chr1_148750363 8.68e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 108579981 4970979 CEU.trio.12.15.2008_157703_chr1_148750464 4.84e-01 2008.12.16 2008.12.16 2003.02.20 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 111116453 4970979 NA19240_2008_12_16_144089_chr1_148750464 4.84e-01 2008.12.17 2008.12.17 2003.02.20 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 218638395 4970979 pilot_1_YRI_448078_chr1_148750464 4.84e-01 2010.04.22 2010.04.22 2003.02.20 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 230723258 4970979 pilot_1_CEU_327887_chr1_148750464 4.84e-01 2010.05.01 2010.05.01 2003.02.20 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 238372778 4970979 pilot_1_CHB+JPT_257855_chr1_148750464 4.84e-01 2010.05.01 2010.05.01 2003.02.20 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 87815757 4970979 JWB-0124787 4.84e-01 2008.02.26 2008.02.26 2003.02.20 2011.09.09 132 BL 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 253488875 4970979 SNP137896_1_148750464 4.84e-01 2010.08.18 2010.08.18 2003.02.20 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 199053141 4970979 BUSHMAN-chr1-148750463 4.84e-01 2010.03.06 2010.03.06 2003.02.20 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 164064376 4970979 NA19240_36_chr1_148750464 4.84e-01 2009.09.29 2009.09.29 2003.02.20 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 167101862 4970979 NA20431_36_chr1_148750464 4.84e-01 2009.09.30 2009.09.30 2003.02.20 2011.09.09 132 CSHL-HAPMAP 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 17337457 4970979 CSHL-HuCC-200402.chr1.NT_032962.5_974195 4.84e-01 2004.02.19 2004.03.04 2003.02.20 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 138078845 4970979 ENSSNP11629573 4.84e-01 2009.05.16 2009.05.16 2003.02.20 2011.09.09 132 GMI 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 155720245 4970979 GMI_SNP_36636543 4.84e-01 2009.06.24 2009.06.24 2003.02.20 2011.09.09 132 HGSV 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 81033236 4970979 Cor18555_SNV_20070510.chr1_147296913 4.84e-01 2007.11.27 2007.11.27 2003.02.20 2011.09.09 132 HGSV 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 81490226 4970979 Cor18956_SNV_20070510.chr1_147296913 4.84e-01 2007.11.30 2007.11.30 2003.02.20 2011.09.09 132 HGSV 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 84093878 4970979 Cor19129_SNV_20070510.chr1_147296913 4.84e-01 2007.12.06 2007.12.06 2003.02.20 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 119019161 4970979 NA18507_000143559_NCBI36.1_chr1_148750464 4.84e-01 2009.01.22 2009.01.22 2003.02.20 2011.09.09 132 PJP 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 290632150 4970979 SNP_138508_chr1_148750464 4.84e-01 2011.01.21 2011.01.21 2003.02.20 2011.09.09 132 SI_EXO 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 52079657 4970979 NT_004487.17_974195 4.84e-01 2006.03.29 2006.03.29 2003.02.20 2011.09.09 132 WI_SSAHASNP 1893 NM_004425.3:c.709-93C>T;NG_012062.1:g.8354C>T;NM_004425.3:c.709-93C>T;NT_004487.19:g.1972482C>T;NM_022664.2:c.708+166C>T;NT_004487.19:g.1972482C>T 6880638 4970979 NT_037496.1_38626 4.84e-01 2003.02.14 2003.10.10 2003.02.20 2011.09.09 132 NHLBI-ESP 1893 341989234 149230481 ESP2500-chr1-150483939 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989236 150939666 ESP2500-chr1-150483951 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989238 144641352 ESP2500-chr1-150484001 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 210635758 11801190 YRI.trio.3.2010_63761_chr1_148750628 9.64e-02 2010.03.29 2010.03.29 2004.02.28 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 218638396 11801190 pilot_1_YRI_448079_chr1_148750628 9.64e-02 2010.04.22 2010.04.22 2004.02.28 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 230723259 11801190 pilot_1_CEU_327888_chr1_148750628 9.64e-02 2010.05.01 2010.05.01 2004.02.28 2011.07.08 132 ABI 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 43886496 11801190 hCV11845598 9.64e-02 2005.07.18 2005.07.18 2004.02.28 2011.07.08 132 BL 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 253488880 11801190 SNP137897_1_148750628 9.64e-02 2010.08.18 2010.08.18 2004.02.28 2011.07.08 132 BUSHMAN 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 199053146 11801190 BUSHMAN-chr1-148750627 9.64e-02 2010.03.06 2010.03.06 2004.02.28 2011.07.08 132 CSHL-HAPMAP 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 17332191 11801190 CSHL-HuCC-200402.chr1.NT_032962.5_974359 9.64e-02 2004.02.19 2004.03.04 2004.02.28 2011.07.08 132 ENSEMBL 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 161173232 11801190 ENSSNP62184 9.64e-02 2009.09.24 2009.09.24 2004.02.28 2011.07.08 132 ILLUMINA 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 160005746 11801190 HumanOmni1-Quad_v1-0_B_rs11801190-128_T_F_1562617477 9.64e-02 2009.08.05 2009.10.01 2004.02.28 2011.07.08 132 ILLUMINA-UK 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 119019165 11801190 NA18507_000143560_NCBI36.1_chr1_148750628 9.64e-02 2009.01.22 2009.01.22 2004.02.28 2011.07.08 132 NHLBI-ESP 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 341989241 11801190 ESP2500-chr1-150484004 9.64e-02 2011.03.25 2011.03.25 2004.02.28 2011.07.08 132 SEATTLESEQ 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 159698617 11801190 ECM1-148750628 9.64e-02 2009.07.10 2009.07.10 2004.02.28 2011.07.08 132 SI_EXO 1893 NM_004425.3:c.780G>A;NG_012062.1:g.8518G>A;NM_004425.3:c.780G>A;NT_004487.19:g.1972646G>A;NM_022664.2:c.708+330G>A;NT_004487.19:g.1972646G>A 52069598 11801190 NT_004487.17_974359 9.64e-02 2006.03.29 2006.03.29 2004.02.28 2011.07.08 132 NHLBI-ESP 1893 341989242 138083168 ESP2500-chr1-150484006 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.792G>A;NG_012062.1:g.8530G>A;NM_004425.3:c.792G>A;NT_004487.19:g.1972658G>A;NM_022664.2:c.708+342G>A;NT_004487.19:g.1972658G>A 218638397 78194273 pilot_1_YRI_448080_chr1_148750640 1.14e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 NHLBI-ESP 1893 NM_004425.3:c.792G>A;NG_012062.1:g.8530G>A;NM_004425.3:c.792G>A;NT_004487.19:g.1972658G>A;NM_022664.2:c.708+342G>A;NT_004487.19:g.1972658G>A 341989245 78194273 ESP2500-chr1-150484016 1.14e-02 2011.03.25 2011.03.25 2009.12.01 2011.07.08 132 ILLUMINA 1893 NM_004425.3:c.820G>C;NG_012062.1:g.8558G>C;NP_004416.2:p.Ala274Pro;NM_004425.3:c.820G>C;NT_004487.19:g.1972686G>C;NP_004416.2:p.Ala274Pro;NM_022664.2:c.708+370G>C;NT_004487.19:g.1972686G>C 161040691 80339946 HumanOmni1-Quad_v1-0_B_SNP1-148750668-128_B_R_1587208253 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2011.07.08 132 NHLBI-ESP 1893 341989246 143016855 ESP2500-chr1-150484069 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 GMI 1893 NM_004425.3:c.893delC;NG_012062.1:g.8631delC;NP_004416.2:p.Pro298fx;NM_004425.3:c.893delC;NT_004487.19:g.1972759delC;NP_004416.2:p.Pro298fx;NM_022664.2:c.708+443delC;NT_004487.19:g.1972759delC 154574348 78332481 GMI_INDEL-7041 2009.06.24 2009.06.24 2009.12.01 2011.07.08 132 NHLBI-ESP 1893 341989248 139981276 ESP2500-chr1-150484180 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 328933629 148594423 20100804_snps_577165_chr1_150484191 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 1893 341989251 139967544 ESP2500-chr1-150484257 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 1893 NP_004416.2:p.GLN346TER NM_004425.3:c.1036C>T;NG_012062.1:g.8774C>T;NP_004416.2:p.Gln346X;NM_004425.3:c.1036C>T;NT_004487.19:g.1972902C>T;NP_004416.2:p.Gln346X;NM_022664.2:c.709-568C>T;NT_004487.19:g.1972902C>T 263193555 121909114 10828 Germline probable-pathogenic 2010.10.28 2010.10.28 2010.10.28 2011.07.08 132 NHLBI-ESP 1893 341989252 149844916 ESP2500-chr1-150484273 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989255 144607263 ESP2500-chr1-150484307 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.1083+10C>T;NG_012062.1:g.8831C>T;NM_004425.3:c.1083+10C>T;NT_004487.19:g.1972959C>T;NM_022664.2:c.709-511C>T;NT_004487.19:g.1972959C>T 328933630 55770822 20100804_snps_577166_chr1_150484317 2.74e-03 2011.03.22 2011.03.22 2007.12.06 2011.10.06 132 SI_EXO 1893 NM_004425.3:c.1083+10C>T;NG_012062.1:g.8831C>T;NM_004425.3:c.1083+10C>T;NT_004487.19:g.1972959C>T;NM_022664.2:c.709-511C>T;NT_004487.19:g.1972959C>T 76889483 55770822 NT_004487.18_974672 2.74e-03 2007.09.20 2007.09.20 2007.12.06 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.1083+54C>T;NG_012062.1:g.8875C>T;NM_004425.3:c.1083+54C>T;NT_004487.19:g.1973003C>T;NM_022664.2:c.709-467C>T;NT_004487.19:g.1973003C>T 218638398 76435761 pilot_1_YRI_448081_chr1_148750985 1.83e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 1893 326084268 149815479 JPTCHB_chr1_148751019_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1893 326087240 149815479 CEU_chr1_148751019_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1893 326114265 149815479 YRI_chr1_148751019_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BL 1893 255944280 149815479 SNP9325_1_148751019 2010.08.20 2010.08.20 2011.05.09 2011.09.09 132 BUSHMAN 1893 193127874 71580308 BUSHMAN-chr1-148751019-148751021 2010.02.16 2010.02.16 2009.02.13 2011.09.09 132 GMI 1893 154574358 71580308 GMI_INDEL-7042 2009.06.24 2009.06.24 2009.02.13 2011.09.09 132 GMI 1893 287680797 71580308 GMI_NA10851_INDEL_13397 2010.12.18 2010.12.20 2009.02.13 2011.09.09 132 HUMANGENOME_JCVI 1893 98576434 71580308 1103675221647 2008.04.01 2008.04.01 2009.02.13 2011.09.09 132 PJP 1893 294603451 71580308 DIP_41155_chr1_148751020 2011.01.21 2011.01.21 2009.02.13 2011.09.09 132 TSC-CSHL 1893 4296457 3065117 TSC1710176 2001.11.09 2003.10.10 2002.01.05 2011.07.08 132 ABI 1893 41168359 3835666 hCV33598253 2005.07.17 2005.07.17 2002.08.28 2011.09.09 132 BUSHMAN 1893 193127876 3835666 BUSHMAN-chr1-148751024-148751026 2010.02.16 2010.02.16 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 8035547 3835666 INDEL_GP31_36103 2003.04.16 2003.10.10 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 14967662 3835666 INDEL_GP34_WGS_47724 2003.11.13 2003.11.22 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 49884368 3835666 INDEL_GP35_TSC_62839 2006.01.23 2006.01.23 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 49917029 3835666 INDEL_GP35_TSC_106479 2006.01.23 2006.01.23 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 49938973 3835666 INDEL_GP35_TSC_136480 2006.01.23 2006.01.23 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 50164374 3835666 INDEL_GP35_WGS_386962 2006.01.24 2006.01.24 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 94575787 3835666 INDEL_GP36_2008a_142306_1 2008.03.06 2008.05.17 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 94575789 3835666 INDEL_GP36_2008a_142306_2 2008.03.06 2008.05.17 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 94575793 3835666 INDEL_GP36_2008a_142306_3 2008.03.06 2008.05.17 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 94575796 3835666 INDEL_GP36_2008a_142306_4 2008.03.06 2008.05.17 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 94575799 3835666 INDEL_GP36_2008a_142306_5 2008.03.06 2008.05.17 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 99406664 3835666 INDEL_GP36_2007a_142306_0 2008.05.05 2008.05.05 2002.08.28 2011.09.09 132 DEVINE_LAB 1893 101088467 3835666 INDEL_GP36_2008a_142306_6 2008.05.17 2008.05.17 2002.08.28 2011.09.09 132 YUSUKE 1893 5022178 3835666 IMS-JST122601 2002.08.12 2003.10.10 2002.08.28 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1083+212T>G;NG_012062.1:g.9033T>G;NM_004425.3:c.1083+212T>G;NT_004487.19:g.1973161T>G;NM_022664.2:c.709-309T>G;NT_004487.19:g.1973161T>G 138078846 76667605 ENSSNP11629574 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 1893 454372707 189670538 20101123_snps_539937_chr1_150484554 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 108579985 875514 CEU.trio.12.15.2008_157704_chr1_148751179 4.84e-01 2008.12.16 2008.12.16 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 111116461 875514 NA19240_2008_12_16_144090_chr1_148751179 4.84e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 218638399 875514 pilot_1_YRI_448082_chr1_148751179 4.84e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 230723261 875514 pilot_1_CEU_327890_chr1_148751179 4.84e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 238372780 875514 pilot_1_CHB+JPT_257857_chr1_148751179 4.84e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 41057968 875514 hCV8690828 4.84e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 199053150 875514 BUSHMAN-chr1-148751178 4.84e-01 2010.03.06 2010.03.06 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 164064389 875514 NA19240_36_chr1_148751179 4.84e-01 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 167101868 875514 NA20431_36_chr1_148751179 4.84e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 GMI 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 155720253 875514 GMI_SNP_36508709 4.84e-01 2009.06.24 2009.06.24 2000.10.05 2011.09.09 132 HGSV 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 78103180 875514 Cor12878_SNV_20070510.chr1_147297628 4.84e-01 2007.10.17 2007.10.17 2000.10.05 2011.09.09 132 HGSV 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 81627568 875514 Cor18555_SNV_20070510.chr1_147297628 4.84e-01 2007.12.01 2007.12.01 2000.10.05 2011.09.09 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 99248779 875514 1103675221648 4.84e-01 2008.04.03 2008.04.03 2000.10.05 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 119019167 875514 NA18507_000143561_NCBI36.1_chr1_148751179 4.84e-01 2009.01.22 2009.01.22 2000.10.05 2011.09.09 132 PJP 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 290632151 875514 SNP_138509_chr1_148751179 4.84e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 TSC-CSHL 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 1299991 875514 TSC0206727 4.84e-01 2000.09.06 2004.04.07 2000.10.05 2011.09.09 132 WI_SSAHASNP 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 13607834 875514 chr1.NT_032962.5_974910 4.84e-01 2003.11.05 2003.11.22 2000.10.05 2011.09.09 132 YUSUKE 1893 NM_004425.3:c.1083+248C>G;NG_012062.1:g.9069C>G;NM_004425.3:c.1083+248C>G;NT_004487.19:g.1973197C>G;NM_022664.2:c.709-273C>G;NT_004487.19:g.1973197C>G 4954065 875514 IMS-JST122602 4.84e-01 2002.08.07 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1084-219C>T;NG_012062.1:g.9123C>T;NM_004425.3:c.1084-219C>T;NT_004487.19:g.1973251C>T;NM_022664.2:c.709-219C>T;NT_004487.19:g.1973251C>T 218638400 58138129 pilot_1_YRI_448083_chr1_148751233 4.57e-04 2010.04.22 2010.04.22 2007.12.15 2011.09.09 132 HGSV 1893 NM_004425.3:c.1084-219C>T;NG_012062.1:g.9123C>T;NM_004425.3:c.1084-219C>T;NT_004487.19:g.1973251C>T;NM_022664.2:c.709-219C>T;NT_004487.19:g.1973251C>T 84913609 58138129 Cor19129_SNV_20070510.chr1_147297682 4.57e-04 2007.12.08 2007.12.08 2007.12.15 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1084-197C>A;NT_004487.19:g.1973273C>A;NM_022664.2:c.709-197C>A;NT_004487.19:g.1973273C>A 218638401 116708032 pilot_1_YRI_448084_chr1_148751255 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1084-183G>A;NG_012062.1:g.9159G>A;NM_004425.3:c.1084-183G>A;NT_004487.19:g.1973287G>A;NM_022664.2:c.709-183G>A;NT_004487.19:g.1973287G>A 218638403 12064628 pilot_1_YRI_448086_chr1_148751269 5.03e-03 2010.04.22 2010.04.22 2004.02.28 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1084-183G>A;NG_012062.1:g.9159G>A;NM_004425.3:c.1084-183G>A;NT_004487.19:g.1973287G>A;NM_022664.2:c.709-183G>A;NT_004487.19:g.1973287G>A 199053154 12064628 BUSHMAN-chr1-148751268 5.03e-03 2010.03.06 2010.03.06 2004.02.28 2011.09.09 132 SC_SNP 1893 NM_004425.3:c.1084-183G>A;NG_012062.1:g.9159G>A;NM_004425.3:c.1084-183G>A;NT_004487.19:g.1973287G>A;NM_022664.2:c.709-183G>A;NT_004487.19:g.1973287G>A 18149849 12064628 SC-CHR1_NA17109-200402.chr1.NT_032962.5_975000 5.03e-03 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 1000GENOMES 1893 454372708 180697076 20101123_snps_539938_chr1_150484792 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 328933631 151102225 20100804_snps_577167_chr1_150484844 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989256 151102225 ESP2500-chr1-150484844 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989258 143543113 ESP2500-chr1-150484887 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989261 150157900 ESP2500-chr1-150484897 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989262 138937498 ESP2500-chr1-150484969 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 108579989 13294 CEU.trio.12.15.2008_157705_chr1_148751611 2.85e-01 2008.12.16 2008.12.16 2000.09.19 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 218638404 13294 pilot_1_YRI_448087_chr1_148751611 2.85e-01 2010.04.22 2010.04.22 2000.09.19 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 230723262 13294 pilot_1_CEU_327891_chr1_148751611 2.85e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 238372781 13294 pilot_1_CHB+JPT_257858_chr1_148751611 2.85e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 BCMHGSC_JDW 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 87815759 13294 JWB-0124788 2.85e-01 2008.02.26 2008.02.26 2000.09.19 2011.10.06 132 BUSHMAN 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 199053157 13294 BUSHMAN-chr1-148751610 2.85e-01 2010.03.06 2010.03.06 2000.09.19 2011.10.06 132 CGAP-GAI 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 15619 13294 60714 2.85e-01 1999.08.23 2004.04.07 2000.09.19 2011.10.06 132 CGAP-GAI 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 16230375 13294 1468881 2.85e-01 2003.11.18 2003.11.22 2000.09.19 2011.10.06 132 ENSEMBL 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 138078847 13294 ENSSNP6396344 2.85e-01 2009.05.16 2009.05.16 2000.09.19 2011.10.06 132 GMI 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 155720261 13294 GMI_SNP_37588443 2.85e-01 2009.06.24 2009.06.24 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 65725578 13294 Human1-rs13294 2.85e-01 2006.10.10 2006.10.10 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 66541105 13294 HumanHap300v1.1_rs13294 2.85e-01 2006.11.09 2006.11.09 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 67071549 13294 HumanHap550v1.1_rs13294 2.85e-01 2006.11.14 2006.11.14 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 67400855 13294 HumanHap650Yv1.0_rs13294 2.85e-01 2006.11.14 2006.11.14 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 70422286 13294 HumanHap300v2.0_rs13294 2.85e-01 2007.04.18 2007.11.18 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 70601370 13294 HumanHap550v3.0__rs13294 2.85e-01 2007.04.20 2008.03.30 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 71146555 13294 HumanHap650Yv3.0_rs13294 2.85e-01 2007.04.23 2007.04.23 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 74943949 13294 ILMN_Human_1M_rs13294 2.85e-01 2007.08.29 2007.08.29 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 121636827 13294 HumanCNV370v1_C_rs13294 2.85e-01 2009.04.14 2009.04.14 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 153352130 13294 Human610_Quadv1_B_rs13294-128_T_F_1501659214 2.85e-01 2009.06.18 2009.06.19 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 159252787 13294 Human660W-Quad_v1_A_rs13294-128_T_F_1501659214 2.85e-01 2009.07.06 2009.07.06 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 160329182 13294 HumanOmni1-Quad_v1-0_B_rs13294-128_T_F_1501659214 2.85e-01 2009.08.06 2009.10.02 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 170345233 13294 HumanCNV370-Quadv3_C_rs13294-128_T_F_1501659214 2.85e-01 2009.10.01 2009.10.03 2000.09.19 2011.10.06 132 ILLUMINA 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 172381766 13294 Human1M-Duov3_B_rs13294-128_T_F_1501659214 2.85e-01 2009.10.02 2009.10.02 2000.09.19 2011.10.06 132 KRIBB_YJKIM 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 83350584 13294 KHS440899 2.85e-01 2007.12.04 2007.12.04 2000.09.19 2011.10.06 132 LEE 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 1525900 13294 427511 2.85e-01 2000.09.13 2003.10.10 2000.09.19 2011.10.06 132 LEE 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 4394709 13294 ge427511 2.85e-01 2002.04.25 2003.10.10 2000.09.19 2011.10.06 132 LEE 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 4416399 13294 e427511 2.85e-01 2002.04.26 2003.10.10 2000.09.19 2011.10.06 132 MGC_GENOME_DIFF 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 28510990 13294 BC023505x37546839-G975342A 2.85e-01 2004.08.25 2004.08.25 2000.09.19 2011.10.06 132 NHLBI-ESP 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 341989265 13294 ESP2500-chr1-150484987 2.85e-01 2011.03.25 2011.03.25 2000.09.19 2011.10.06 132 PERLEGEN 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 24275658 13294 afd1107012 2.85e-01 2004.08.21 2004.09.13 2000.09.19 2011.10.06 132 PERLEGEN 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 68780011 13294 PGP01107012 2.85e-01 2007.01.30 2007.08.14 2000.09.19 2011.10.06 132 PJP 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 290632152 13294 SNP_138510_chr1_148751611 2.85e-01 2011.01.21 2011.01.21 2000.09.19 2011.10.06 132 SEATTLESEQ 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 159698618 13294 ECM1-148751611 2.85e-01 2009.07.10 2009.07.10 2000.09.19 2011.10.06 132 SEQUENOM 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 24791822 13294 sqnm103784 2.85e-01 2004.06.18 2006.11.02 2000.09.19 2011.10.06 132 TSC-CSHL 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 4057396 13294 TSC1710175 2.85e-01 2001.10.02 2004.05.16 2000.09.19 2011.10.06 132 YUSUKE 1893 NM_004425.3:c.1243G>A;NG_012062.1:g.9501G>A;NP_004416.2:p.Gly415Ser;NM_004425.3:c.1243G>A;NT_004487.19:g.1973629G>A;NP_004416.2:p.Gly415Ser;NM_022664.2:c.868G>A;NT_004487.19:g.1973629G>A;NP_073155.2:p.Gly290Ser 3242326 13294 IMS-JST052411 2.85e-01 2001.09.05 2003.10.10 2000.09.19 2011.10.06 132 NHLBI-ESP 1893 341989267 144325366 ESP2500-chr1-150484991 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1893 326114267 146177795 YRI_chr1_148751677_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1304+6_1304+7ins2;NG_012062.1:g.9568_9569ins2;NM_004425.3:c.1304+6_1304+7ins2;NT_004487.19:g.1973696_1973697ins2;NM_022664.2:c.929+6_929+7ins2;NT_004487.19:g.1973696_1973697ins2 193127878 111691690 BUSHMAN-chr1-148751678-148751678 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 1000GENOMES 1893 328933632 141045340 20100804_snps_577168_chr1_150485087 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1305-67C>T;NG_012062.1:g.9648C>T;NM_004425.3:c.1305-67C>T;NT_004487.19:g.1973776C>T;NM_022664.2:c.930-67C>T;NT_004487.19:g.1973776C>T 218638405 79387366 pilot_1_YRI_448088_chr1_148751758 4.57e-04 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 BUSHMAN 1893 NM_004425.3:c.1305-67C>T;NG_012062.1:g.9648C>T;NM_004425.3:c.1305-67C>T;NT_004487.19:g.1973776C>T;NM_022664.2:c.930-67C>T;NT_004487.19:g.1973776C>T 199053162 79387366 BUSHMAN-chr1-148751757 4.57e-04 2010.03.06 2010.03.06 2009.12.01 2011.07.08 132 1000GENOMES 1893 NM_004425.3:c.1305-25C>T;NG_012062.1:g.9690C>T;NM_004425.3:c.1305-25C>T;NT_004487.19:g.1973818C>T;NM_022664.2:c.930-25C>T;NT_004487.19:g.1973818C>T 218638406 78751287 pilot_1_YRI_448089_chr1_148751800 1.14e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 1893 328933633 144678642 20100804_snps_577169_chr1_150485187 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933634 147907925 20100804_snps_577170_chr1_150485239 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1392+206C>T;NG_012062.1:g.10008C>T;NM_004425.3:c.1392+206C>T;NT_004487.19:g.1974136C>T;NM_022664.2:c.1017+206C>T;NT_004487.19:g.1974136C>T 328933635 113188273 20100804_snps_577171_chr1_150485494 2.29e-03 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1392+206C>T;NG_012062.1:g.10008C>T;NM_004425.3:c.1392+206C>T;NT_004487.19:g.1974136C>T;NM_022664.2:c.1017+206C>T;NT_004487.19:g.1974136C>T 199053165 113188273 BUSHMAN-chr1-148752117 2.29e-03 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 108579993 945715 CEU.trio.12.15.2008_157706_chr1_148752155 2.01e-02 2008.12.16 2008.12.16 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 210635761 945715 YRI.trio.3.2010_63762_chr1_148752155 2.01e-02 2010.03.29 2010.03.29 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 218638407 945715 pilot_1_YRI_448090_chr1_148752155 2.01e-02 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 230723263 945715 pilot_1_CEU_327892_chr1_148752155 2.01e-02 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 238372782 945715 pilot_1_CHB+JPT_257859_chr1_148752155 2.01e-02 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 BCM-HGSC-SUB 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 205457815 945715 BCM_CMT_1011-207954 2.01e-02 2010.03.16 2010.03.16 2000.10.05 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 87815761 945715 JWB-0124789 2.01e-02 2008.02.26 2008.02.26 2000.10.05 2011.09.09 132 BGI 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 106600402 945715 BGI_rs945715 2.01e-02 2008.09.17 2009.06.16 2000.10.05 2011.09.09 132 BL 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 253488885 945715 SNP137898_1_148752155 2.01e-02 2010.08.18 2010.08.18 2000.10.05 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 199053170 945715 BUSHMAN-chr1-148752154 2.01e-02 2010.03.06 2010.03.06 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 164064399 945715 NA19240_36_chr1_148752155 2.01e-02 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 165183064 945715 NA07022_36_chr1_148752155 2.01e-02 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 167101876 945715 NA20431_36_chr1_148752155 2.01e-02 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 138078848 945715 ENSSNP6006306 2.01e-02 2009.05.16 2009.05.16 2000.10.05 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 139217203 945715 ENSSNP62185 2.01e-02 2009.05.18 2009.10.16 2000.10.05 2011.09.09 132 GMI 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 155720269 945715 GMI_SNP_37708151 2.01e-02 2009.06.24 2009.06.24 2000.10.05 2011.09.09 132 HGSV 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 77291186 945715 Cor12156_SNV_20070510.chr1_147298604 2.01e-02 2007.10.10 2007.10.12 2000.10.05 2011.09.09 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 97973683 945715 1103675221655 2.01e-02 2008.03.30 2008.03.30 2000.10.05 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 119019172 945715 NA18507_000143562_NCBI36.1_chr1_148752155 2.01e-02 2009.01.22 2009.01.22 2000.10.05 2011.09.09 132 PJP 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 290632153 945715 SNP_138511_chr1_148752155 2.01e-02 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 SSAHASNP 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 20514911 945715 WGSA-200403-chr1.chr1.NT_032962.5_975886 2.01e-02 2004.03.18 2004.03.18 2000.10.05 2011.09.09 132 TSC-CSHL 1893 NM_004425.3:c.1393-182T>C;NG_012062.1:g.10045T>C;NM_004425.3:c.1393-182T>C;NT_004487.19:g.1974173T>C;NM_022664.2:c.1018-182T>C;NT_004487.19:g.1974173T>C 1387413 945715 TSC0369031 2.01e-02 2000.09.06 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 108579997 12031973 CEU.trio.12.15.2008_157707_chr1_148752190 4.51e-01 2008.12.16 2008.12.16 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 210635764 12031973 YRI.trio.3.2010_63763_chr1_148752190 4.51e-01 2010.03.29 2010.03.29 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 218638408 12031973 pilot_1_YRI_448091_chr1_148752190 4.51e-01 2010.04.22 2010.04.22 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 230723264 12031973 pilot_1_CEU_327893_chr1_148752190 4.51e-01 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 238372783 12031973 pilot_1_CHB+JPT_257860_chr1_148752190 4.51e-01 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 ABI 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 43823292 12031973 hCV11845599 4.51e-01 2005.07.18 2005.07.18 2004.02.28 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 87815763 12031973 JWB-0124790 4.51e-01 2008.02.26 2008.02.26 2004.02.28 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 199053172 12031973 BUSHMAN-chr1-148752189 4.51e-01 2010.03.06 2010.03.06 2004.02.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 164064410 12031973 NA19240_36_chr1_148752190 4.51e-01 2009.09.29 2009.09.29 2004.02.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 167101885 12031973 NA20431_36_chr1_148752190 4.51e-01 2009.09.30 2009.09.30 2004.02.28 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 131692375 12031973 ENSSNP62186 4.51e-01 2009.05.11 2009.10.14 2004.02.28 2011.09.09 132 GMI 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 155720277 12031973 GMI_SNP_35975896 4.51e-01 2009.06.24 2009.06.24 2004.02.28 2011.09.09 132 HGSV 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 82621224 12031973 Cor18956_SNV_20070510.chr1_147298639 4.51e-01 2007.12.03 2007.12.03 2004.02.28 2011.09.09 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 99248780 12031973 1103675221650 4.51e-01 2008.04.03 2008.04.03 2004.02.28 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 119019175 12031973 NA18507_000143563_NCBI36.1_chr1_148752190 4.51e-01 2009.01.22 2009.01.22 2004.02.28 2011.09.09 132 SC_SNP 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 18089567 12031973 SC-CHR1_NA11321-200402.chr1.NT_032962.5_975921 4.51e-01 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 SSAHASNP 1893 NM_004425.3:c.1393-147T>G;NG_012062.1:g.10080T>G;NM_004425.3:c.1393-147T>G;NT_004487.19:g.1974208T>G;NM_022664.2:c.1018-147T>G;NT_004487.19:g.1974208T>G 20515523 12031973 WGSA-200403-chr1.chr1.NT_032962.5_975921 4.51e-01 2004.03.18 2004.03.18 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 108580002 12031974 CEU.trio.12.15.2008_157708_chr1_148752195 2.29e-03 2008.12.16 2008.12.16 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 111116469 12031974 NA19240_2008_12_16_144091_chr1_148752195 2.29e-03 2008.12.17 2008.12.17 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 218638409 12031974 pilot_1_YRI_448092_chr1_148752195 2.29e-03 2010.04.22 2010.04.22 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 230723265 12031974 pilot_1_CEU_327894_chr1_148752195 2.29e-03 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 238372784 12031974 pilot_1_CHB+JPT_257861_chr1_148752195 2.29e-03 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 BCM-HGSC-SUB 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 205474849 12031974 BCM_CMT_1011-216507 2.29e-03 2010.03.16 2010.03.16 2004.02.28 2011.09.09 132 BCMHGSC_JDW 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 87815765 12031974 JWB-0124791 2.29e-03 2008.02.26 2008.02.26 2004.02.28 2011.09.09 132 BGI 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 106600403 12031974 BGI_rs12031974 2.29e-03 2008.09.17 2009.06.16 2004.02.28 2011.09.09 132 BL 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 253488890 12031974 SNP137899_1_148752195 2.29e-03 2010.08.18 2010.08.18 2004.02.28 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 199053175 12031974 BUSHMAN-chr1-148752194 2.29e-03 2010.03.06 2010.03.06 2004.02.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 165183076 12031974 NA07022_36_chr1_148752195 2.29e-03 2009.09.30 2009.09.30 2004.02.28 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 167101893 12031974 NA20431_36_chr1_148752195 2.29e-03 2009.09.30 2009.09.30 2004.02.28 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 131692378 12031974 ENSSNP62187 2.29e-03 2009.05.11 2009.10.14 2004.02.28 2011.09.09 132 ENSEMBL 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 138078849 12031974 ENSSNP6264763 2.29e-03 2009.05.16 2009.05.16 2004.02.28 2011.09.09 132 GMI 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 155720285 12031974 GMI_SNP_36786473 2.29e-03 2009.06.24 2009.06.24 2004.02.28 2011.09.09 132 HGSV 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 77483125 12031974 Cor12156_SNV_20070510.chr1_147298644 2.29e-03 2007.10.13 2007.10.13 2004.02.28 2011.09.09 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 97973684 12031974 1103675221656 2.29e-03 2008.03.30 2008.03.30 2004.02.28 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 160027530 12031974 HumanOmni1-Quad_v1-0_B_rs12031974-128_B_F_1572723169 2.29e-03 2009.08.05 2009.10.01 2004.02.28 2011.09.09 132 ILLUMINA-UK 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 119019179 12031974 NA18507_000143564_NCBI36.1_chr1_148752195 2.29e-03 2009.01.22 2009.01.22 2004.02.28 2011.09.09 132 PJP 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 290632154 12031974 SNP_138512_chr1_148752195 2.29e-03 2011.01.21 2011.01.21 2004.02.28 2011.09.09 132 SC_SNP 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 18089568 12031974 SC-CHR1_NA11321-200402.chr1.NT_032962.5_975926 2.29e-03 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 SSAHASNP 1893 NM_004425.3:c.1393-142T>C;NG_012062.1:g.10085T>C;NM_004425.3:c.1393-142T>C;NT_004487.19:g.1974213T>C;NM_022664.2:c.1018-142T>C;NT_004487.19:g.1974213T>C 20515527 12031974 WGSA-200403-chr1.chr1.NT_032962.5_975926 2.29e-03 2004.03.18 2004.03.18 2004.02.28 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-114G>A;NG_012062.1:g.10113G>A;NM_004425.3:c.1393-114G>A;NT_004487.19:g.1974241G>A;NM_022664.2:c.1018-114G>A;NT_004487.19:g.1974241G>A 111116477 73019054 NA19240_2008_12_16_144092_chr1_148752223 3.84e-02 2008.12.17 2008.12.17 2009.02.14 2011.09.09 132 1000GENOMES 1893 NM_004425.3:c.1393-114G>A;NG_012062.1:g.10113G>A;NM_004425.3:c.1393-114G>A;NT_004487.19:g.1974241G>A;NM_022664.2:c.1018-114G>A;NT_004487.19:g.1974241G>A 218638410 73019054 pilot_1_YRI_448093_chr1_148752223 3.84e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 132 COMPLETE_GENOMICS 1893 NM_004425.3:c.1393-114G>A;NG_012062.1:g.10113G>A;NM_004425.3:c.1393-114G>A;NT_004487.19:g.1974241G>A;NM_022664.2:c.1018-114G>A;NT_004487.19:g.1974241G>A 164064421 73019054 NA19240_36_chr1_148752223 3.84e-02 2009.09.29 2009.09.29 2009.02.14 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.1393-82G>A;NG_012062.1:g.10145G>A;NM_004425.3:c.1393-82G>A;NT_004487.19:g.1974273G>A;NM_022664.2:c.1018-82G>A;NT_004487.19:g.1974273G>A 199053182 112952724 BUSHMAN-chr1-148752254 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 1893 341989268 148761953 ESP2500-chr1-150485730 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989270 146864659 ESP2500-chr1-150485749 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989273 146676314 ESP2500-chr1-150485832 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1893 341989274 140277137 ESP2500-chr1-150485869 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 HGBASE 1893 NM_004425.3:c.1569G>T;NG_012062.1:g.10403G>T;NP_004416.2:p.Gln523His;NM_004425.3:c.1569G>T;NT_004487.19:g.1974531G>T;NP_004416.2:p.Gln523His;NM_022664.2:c.1194G>T;NT_004487.19:g.1974531G>T;NP_073155.2:p.Gln398His 2425499 1804696 SNP000013160 2000.11.07 2003.10.10 2000.11.14 2011.07.08 132 HGBASE 1893 NM_004425.3:c.1582G>A;NG_012062.1:g.10416G>A;NP_004416.2:p.Gly528Arg;NM_004425.3:c.1582G>A;NT_004487.19:g.1974544G>A;NP_004416.2:p.Gly528Arg;NM_022664.2:c.1207G>A;NT_004487.19:g.1974544G>A;NP_073155.2:p.Gly403Arg 2425500 1050901 SNP000013161 2000.11.07 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1582G>A;NG_012062.1:g.10416G>A;NP_004416.2:p.Gly528Arg;NM_004425.3:c.1582G>A;NT_004487.19:g.1974544G>A;NP_004416.2:p.Gly528Arg;NM_022664.2:c.1207G>A;NT_004487.19:g.1974544G>A;NP_073155.2:p.Gly403Arg 1525934 1050901 428368 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1582G>A;NG_012062.1:g.10416G>A;NP_004416.2:p.Gly528Arg;NM_004425.3:c.1582G>A;NT_004487.19:g.1974544G>A;NP_004416.2:p.Gly528Arg;NM_022664.2:c.1207G>A;NT_004487.19:g.1974544G>A;NP_073155.2:p.Gly403Arg 4394713 1050901 ge428368 2002.04.25 2003.10.10 2000.10.05 2011.09.09 132 HGBASE 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 2425501 1050904 SNP000013162 2000.11.07 2003.10.10 2000.10.05 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 74891526 1050904 ILMN_Human_1M_rs1050904 2007.08.29 2007.08.29 2000.10.05 2011.09.09 132 ILLUMINA 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 170288952 1050904 Human1M-Duov3_B_rs1050904-106_T_R_1513883380 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 KRIBB_YJKIM 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 119380423 1050904 KHS1542670 2009.02.04 2009.02.04 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 1525940 1050904 428490 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 4394714 1050904 ge428490 2002.04.25 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 4416427 1050904 e428490 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.1604C>T;NG_012062.1:g.10438C>T;NP_004416.2:p.Ser535Phe;NM_004425.3:c.1604C>T;NT_004487.19:g.1974566C>T;NP_004416.2:p.Ser535Phe;NM_022664.2:c.1229C>T;NT_004487.19:g.1974566C>T;NP_073155.2:p.Ser410Phe 4440354 1050904 e1824797 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 NHLBI-ESP 1893 341989276 144955346 ESP2500-chr1-150485944 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 HUMANGENOME_JCVI 1893 NM_004425.3:c.*28_*29insG;NG_012062.1:g.10485_10486insG;NM_004425.3:c.*28_*29insG;NT_004487.19:g.1974613_1974614insG;NM_022664.2:c.*28_*29insG;NT_004487.19:g.1974613_1974614insG 98576435 71580309 1103675221651 2008.04.01 2008.04.01 2009.02.13 2011.09.09 132 ABI 1893 NM_004425.3:c.*34_*35insG;NG_012062.1:g.10491_10492insG;NM_004425.3:c.*34_*35insG;NT_004487.19:g.1974619_1974620insG;NM_022664.2:c.*34_*35insG;NT_004487.19:g.1974619_1974620insG 41278251 35682341 hCV33598252 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 LEE 1893 NM_004425.3:c.*57C>T;NG_012062.1:g.10514C>T;NM_004425.3:c.*57C>T;NT_004487.19:g.1974642C>T;NM_022664.2:c.*57C>T;NT_004487.19:g.1974642C>T 1525949 1050911 428659 2000.09.13 2004.05.16 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.*57C>T;NG_012062.1:g.10514C>T;NM_004425.3:c.*57C>T;NT_004487.19:g.1974642C>T;NM_022664.2:c.*57C>T;NT_004487.19:g.1974642C>T 1550950 1050911 1205718 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.*57C>T;NG_012062.1:g.10514C>T;NM_004425.3:c.*57C>T;NT_004487.19:g.1974642C>T;NM_022664.2:c.*57C>T;NT_004487.19:g.1974642C>T 4394715 1050911 ge428659 2002.04.25 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.*57C>T;NG_012062.1:g.10514C>T;NM_004425.3:c.*57C>T;NT_004487.19:g.1974642C>T;NM_022664.2:c.*57C>T;NT_004487.19:g.1974642C>T 4416431 1050911 e428659 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 LEE 1893 NM_004425.3:c.*57C>T;NG_012062.1:g.10514C>T;NM_004425.3:c.*57C>T;NT_004487.19:g.1974642C>T;NM_022664.2:c.*57C>T;NT_004487.19:g.1974642C>T 4440355 1050911 e1824807 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.*97C>T;NG_012062.1:g.10554C>T;NM_004425.3:c.*97C>T;NT_004487.19:g.1974682C>T;NM_022664.2:c.*97C>T;NT_004487.19:g.1974682C>T 199053185 113099347 BUSHMAN-chr1-148752663 2010.03.06 2010.03.06 2010.07.04 2011.07.08 132 1000GENOMES 1893 454372709 186657409 20101123_snps_539939_chr1_150486086 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 454372710 191053640 20101123_snps_539940_chr1_150486133 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1893 NM_004425.3:c.*296C>G;NG_012062.1:g.10753C>G;NM_004425.3:c.*296C>G;NT_004487.19:g.1974881C>G;NM_022664.2:c.*296C>G;NT_004487.19:g.1974881C>G 328933636 112603952 20100804_snps_577172_chr1_150486239 3.38e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 1893 NM_004425.3:c.*296C>G;NG_012062.1:g.10753C>G;NM_004425.3:c.*296C>G;NT_004487.19:g.1974881C>G;NM_022664.2:c.*296C>G;NT_004487.19:g.1974881C>G 199053190 112603952 BUSHMAN-chr1-148752862 3.38e-02 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1893 NG_012062.1:g.10895G>C;NT_004487.19:g.1975023G>C 108580006 6704384 CEU.trio.12.15.2008_157709_chr1_148753005 9.00e-02 2008.12.16 2008.12.16 2003.07.11 2011.07.08 132 1000GENOMES 1893 NG_012062.1:g.10895G>C;NT_004487.19:g.1975023G>C 230723267 6704384 pilot_1_CEU_327896_chr1_148753005 9.00e-02 2010.05.01 2010.05.01 2003.07.11 2011.07.08 132 1000GENOMES 1893 NG_012062.1:g.10895G>C;NT_004487.19:g.1975023G>C 238372785 6704384 pilot_1_CHB+JPT_257862_chr1_148753005 9.00e-02 2010.05.01 2010.05.01 2003.07.11 2011.07.08 132 BCM_SSAHASNP 1893 NG_012062.1:g.10895G>C;NT_004487.19:g.1975023G>C 9906397 6704384 chr1.NT_032962.4_908377 9.00e-02 2003.06.28 2003.10.10 2003.07.11 2011.07.08 132 GMI 1893 NG_012062.1:g.10895G>C;NT_004487.19:g.1975023G>C 155720293 6704384 GMI_SNP_118042481 9.00e-02 2009.06.24 2009.06.24 2003.07.11 2011.07.08 132 1000GENOMES 1893 454372711 183810605 20101123_snps_539941_chr1_150486418 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ENSEMBL 1893 NG_012062.1:g.10975T>C;NT_004487.19:g.1975103T>C 138078850 74520877 ENSSNP11629578 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 ENSEMBL 1893 NG_012062.1:g.10976T>C;NT_004487.19:g.1975104T>C 138078851 75470877 ENSSNP11629579 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 1893 328933637 138636989 20100804_snps_577173_chr1_150486479 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933638 148914344 20100804_snps_577174_chr1_150486535 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933639 143551091 20100804_snps_577175_chr1_150486573 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1893 328933640 148022743 20100804_snps_577176_chr1_150486686 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 1893 NG_012062.1:g.11227_11228insC;NT_004487.19:g.1975355_1975356insC 41309044 34905209 hCV33598251 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 # Report date: 2012.1.24, Gene: ECM1 (1893), ss count: 541, rs count: 175.