# 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 114548 NC_000001.10:g.247577534delT;NG_007509.2:g.3060delT;NM_001079821.2:c.-2062delT;NM_001127461.2:c.-2704delT 499190805 200253374 20110316_indels_chr1_247577533_247577533 4.10e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577580T>C;NG_007509.2:g.3106T>C;NM_001079821.2:c.-2016T>C;NM_001127461.2:c.-2658T>C 329363717 79490268 20100804_snps_1007253_chr1_247577580 1.80e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577586C>T;NG_007509.2:g.3112C>T;NM_001079821.2:c.-2010C>T;NM_001127461.2:c.-2652C>T 454808072 192727358 20101123_snps_975302_chr1_247577586 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 114548 NC_000001.10:g.247577725_247577726insT;NG_007509.2:g.3251_3252insT;NM_001079821.2:c.-1871_-1870insT;NM_001127461.2:c.-2513_-2512insT 193163314 113806275 BUSHMAN-chr1-245644349-245644349 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577725_247577726insT;NG_007509.2:g.3251_3252insT;NM_001079821.2:c.-1871_-1870insT;NM_001127461.2:c.-2513_-2512insT 326158590 113806275 JPTCHB_chr1_245644349_indel 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577725_247577726insT;NG_007509.2:g.3251_3252insT;NM_001079821.2:c.-1871_-1870insT;NM_001127461.2:c.-2513_-2512insT 326164524 113806275 CEU_chr1_245644349_indel 2011.03.11 2011.04.01 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577725_247577726insT;NG_007509.2:g.3251_3252insT;NM_001079821.2:c.-1871_-1870insT;NM_001127461.2:c.-2513_-2512insT 326215314 113806275 YRI_chr1_245644349_indel 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577725_247577726insT;NG_007509.2:g.3251_3252insT;NM_001079821.2:c.-1871_-1870insT;NM_001127461.2:c.-2513_-2512insT 499190809 113806275 20110316_indels_chr1_247577726_247577727 2012.03.19 2012.03.19 2010.07.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247577727_247577728insT;NG_007509.2:g.3253_3254insT;NM_001079821.2:c.-1869_-1868insT;NM_001127461.2:c.-2511_-2510insT 81958636 59766615 Cor19129_DIV_20070510.chr1_243903777-243903778_1 2007.12.01 2007.12.01 2007.12.15 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247577727_247577728insT;NG_007509.2:g.3253_3254insT;NM_001079821.2:c.-1869_-1868insT;NM_001127461.2:c.-2511_-2510insT 100965494 59766615 INDEL_GP36_2008a_2784096_0 2008.05.17 2008.05.17 2007.12.15 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247577727_247577728insT;NG_007509.2:g.3253_3254insT;NM_001079821.2:c.-1869_-1868insT;NM_001127461.2:c.-2511_-2510insT 100965497 59766615 INDEL_GP36_2008a_2784096_1 2008.05.17 2008.05.17 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247577727_247577728insT;NG_007509.2:g.3253_3254insT;NM_001079821.2:c.-1869_-1868insT;NM_001127461.2:c.-2511_-2510insT 287692036 59766615 GMI_NA10851_INDEL_24664 2010.12.18 2010.12.20 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247577727_247577728insT;NG_007509.2:g.3253_3254insT;NM_001079821.2:c.-1869_-1868insT;NM_001127461.2:c.-2511_-2510insT 288119517 59766615 GMI_AK_INDEL_90624 2010.12.21 2011.12.23 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577810C>T;NG_007509.2:g.3336C>T;NM_001079821.2:c.-1786C>T;NM_001127461.2:c.-2428C>T 329363718 148645104 20100804_snps_1007254_chr1_247577810 1.10e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 18095691 10925014 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12241175 3.57e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 18269822 10925014 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12241175 3.57e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 20599957 10925014 WGSA-200403-chr1.chr1.NT_004836.15_12241175 3.57e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 41057555 10925014 hCV26645995 3.57e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 78695805 10925014 Cor12878_SNV_20070510.chr1_243903852 3.57e-01 2007.10.20 2007.10.20 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 84114323 10925014 Cor18555_SNV_20070510.chr1_243903852 3.57e-01 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 88051196 10925014 JWB-0217768 3.57e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 131774246 10925014 ENSSNP197659 3.57e-01 2009.05.11 2009.10.14 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 138194225 10925014 ENSSNP11747527 3.57e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 156563768 10925014 GMI_SNP_150315457 3.57e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 167597110 10925014 NA20431_36_chr1_245644434 3.57e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 253948906 10925014 SNP242634_1_245644434 3.57e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 276310463 10925014 GMI_AK_SNP_630630 3.57e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 290789416 10925014 SNP_295774_chr1_245644434 3.57e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577811G>A;NG_007509.2:g.3337G>A;NM_001079821.2:c.-1785G>A;NM_001127461.2:c.-2427G>A 329363719 10925014 20100804_snps_1007255_chr1_247577811 3.57e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 17377405 11811863 CSHL-HuCC-200402.chr1.NT_004836.15_12241220 2.23e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 41273822 11811863 hCV26645996 2.23e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 88051199 11811863 JWB-0217769 2.23e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 102842937 11811863 BGI_rs11811863 2.23e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 138194226 11811863 ENSSNP11747528 2.23e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 161239996 11811863 ENSSNP197660 2.23e-01 2009.09.24 2010.03.07 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 165635917 11811863 NA19240_36_chr1_245644479 2.23e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 199903724 11811863 BUSHMAN-chr1-245644478 2.23e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 205394245 11811863 BCM_CMT_1011-176221 2.23e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 253948909 11811863 SNP242635_1_245644479 2.23e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 276310464 11811863 GMI_AK_SNP_630631 2.23e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 329363720 11811863 20100804_snps_1007256_chr1_247577856 2.23e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 482298328 11811863 HumanOmni2.5-4v1_B_SNP1-245644479-0_T_R_1631732651 2.23e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247577856C>T;NG_007509.2:g.3382C>T;NM_001079821.2:c.-1740C>T;NM_001127461.2:c.-2382C>T 484231038 11811863 HumanOmni2.5-4v1_D_kgp9206478-0_T_R_1821278769 2.23e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247577935_247577936insTT;NG_007509.2:g.3461_3462insTT;NM_001079821.2:c.-1661_-1660insTT;NM_001127461.2:c.-2303_-2302insTT 101597253 72220201 INDEL_GP36_2008a_2798444_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 TSC-CSHL 114548 NC_000001.10:g.247577947_247577948insTT;NC_000001.10:g.247577947_247577948insTTT;NG_007509.2:g.3473_3474insTT;NG_007509.2:g.3473_3474insTTT;NM_001079821.2:c.-1649_-1648insTT;NM_001079821.2:c.-1649_-1648insTTT;NM_001127461.2:c.-2291_-2290insTT;NM_001127461.2:c.-2291_-2290insTTT 5331445 4003422 TSC1582774 2002.09.20 2003.10.10 2002.10.10 2012.05.16 137 HGSV 114548 NC_000001.10:g.247577947_247577948insTT;NC_000001.10:g.247577947_247577948insTTT;NG_007509.2:g.3473_3474insTT;NG_007509.2:g.3473_3474insTTT;NM_001079821.2:c.-1649_-1648insTT;NM_001079821.2:c.-1649_-1648insTTT;NM_001127461.2:c.-2291_-2290insTT;NM_001127461.2:c.-2291_-2290insTTT 81958649 4003422 Cor19129_DIV_20070510.chr1_243903988-243903989_1 2007.12.01 2007.12.01 2002.10.10 2012.05.16 137 GMI 114548 NC_000001.10:g.247577947_247577948insTTT;NG_007509.2:g.3473_3474insTTT;NM_001079821.2:c.-1649_-1648insTTT;NM_001127461.2:c.-2291_-2290insTTT 288119519 200049306 GMI_AK_INDEL_90625 2010.12.21 2011.12.23 2012.05.04 2012.05.04 137 WUGSC_SSAHASNP 114548 NC_000001.10:g.247577966T>G;NG_007509.2:g.3492T>G;NM_001079821.2:c.-1630T>G;NM_001127461.2:c.-2272T>G 14018581 10157638 chr1.NT_004836.15_12241330 3.21e-02 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247577966T>G;NG_007509.2:g.3492T>G;NM_001079821.2:c.-1630T>G;NM_001127461.2:c.-2272T>G 15556587 10157638 NT_004836.15_12241330 3.21e-02 2003.11.17 2003.11.22 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247577966T>G;NG_007509.2:g.3492T>G;NM_001079821.2:c.-1630T>G;NM_001127461.2:c.-2272T>G 165635926 10157638 NA19240_36_chr1_245644589 3.21e-02 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247577966T>G;NG_007509.2:g.3492T>G;NM_001079821.2:c.-1630T>G;NM_001127461.2:c.-2272T>G 329363721 10157638 20100804_snps_1007257_chr1_247577966 3.21e-02 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578023C>T;NG_007509.2:g.3549C>T;NM_001079821.2:c.-1573C>T;NM_001127461.2:c.-2215C>T 454808073 182137006 20101123_snps_975303_chr1_247578023 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247578079C>T;NG_007509.2:g.3605C>T;NM_001079821.2:c.-1517C>T;NM_001127461.2:c.-2159C>T 454808074 186869208 20101123_snps_975304_chr1_247578079 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247578095_247578096insT;NG_007509.2:g.3621_3622insT;NM_001079821.2:c.-1501_-1500insT;NM_001127461.2:c.-2143_-2142insT 41295069 35566977 hCV33568108 2005.07.17 2005.07.17 2006.03.15 2011.10.06 137 BUSHMAN 114548 NC_000001.10:g.247578095_247578096insT;NG_007509.2:g.3621_3622insT;NM_001079821.2:c.-1501_-1500insT;NM_001127461.2:c.-2143_-2142insT 193163316 35566977 BUSHMAN-chr1-245644719-245644719 2010.02.16 2010.02.16 2006.03.15 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247578095_247578096insT;NG_007509.2:g.3621_3622insT;NM_001079821.2:c.-1501_-1500insT;NM_001127461.2:c.-2143_-2142insT 326164527 35566977 CEU_chr1_245644719_indel 2011.03.11 2011.04.01 2006.03.15 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247578095_247578096insT;NG_007509.2:g.3621_3622insT;NM_001079821.2:c.-1501_-1500insT;NM_001127461.2:c.-2143_-2142insT 326215316 35566977 YRI_chr1_245644719_indel 2011.03.11 2011.04.02 2006.03.15 2011.10.06 137 HGSV 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 81791980 56863499 Cor19129_DIV_20070510.chr1_243904146-243904147_1 2007.12.01 2007.12.01 2007.12.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 82185708 56863499 Cor19129_DIV_20070510.chr1_243904146-243904147_2 2007.12.02 2007.12.02 2007.12.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 101077449 56863499 INDEL_GP36_2008a_2784098_0 2008.05.17 2008.05.17 2007.12.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 101077452 56863499 INDEL_GP36_2008a_2784098_1 2008.05.17 2008.05.17 2007.12.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 101136325 56863499 INDEL_GP36_2008a_956833_0 2008.05.17 2008.05.17 2007.12.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 102076562 56863499 INDEL_GP36_2008a_2798445_0 2008.05.18 2008.05.18 2007.12.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247578097_247578098insT;NG_007509.2:g.3623_3624insT;NM_001079821.2:c.-1499_-1498insT;NM_001127461.2:c.-2141_-2140insT 288119521 56863499 GMI_AK_INDEL_90626 2010.12.21 2011.12.23 2007.12.14 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247578105T>A;NG_007509.2:g.3631T>A;NM_001079821.2:c.-1491T>A;NM_001127461.2:c.-2133T>A 138194227 77563288 ENSSNP11747529 7.80e-03 2009.05.17 2009.05.17 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578105T>A;NG_007509.2:g.3631T>A;NM_001079821.2:c.-1491T>A;NM_001127461.2:c.-2133T>A 454808075 77563288 20101123_snps_975305_chr1_247578105 7.80e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578286C>G;NG_007509.2:g.3812C>G;NM_001079821.2:c.-1310C>G;NM_001127461.2:c.-1952C>G 329363722 143963418 20100804_snps_1007258_chr1_247578286 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247578290A>G;NG_007509.2:g.3816A>G;NM_001079821.2:c.-1306A>G;NM_001127461.2:c.-1948A>G 329363723 146529812 20100804_snps_1007259_chr1_247578290 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247578376A>G;NG_007509.2:g.3902A>G;NM_001079821.2:c.-1220A>G;NM_001127461.2:c.-1862A>G 329363724 140882505 20100804_snps_1007260_chr1_247578376 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 2935945 2027432 TSC1086099 1.37e-01 2001.01.26 2004.04.07 2001.04.12 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 19139062 2027432 CSHL-HuDD-200402.chr1.NT_004836.15_12241805 1.37e-01 2004.02.20 2004.03.04 2001.04.12 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 20603384 2027432 WGSA-200403-chr1.chr1.NT_004836.15_12241805 1.37e-01 2004.03.18 2004.03.18 2001.04.12 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 24278314 2027432 afd3991303 1.37e-01 2004.08.21 2004.09.13 2001.04.12 2012.11.28 137 ABI 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 44123525 2027432 hCV12075895 1.37e-01 2005.07.18 2005.07.18 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 65717569 2027432 Human1-rs2027432 1.37e-01 2006.10.10 2006.10.10 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 66642656 2027432 HumanHap300v1.1_rs2027432 1.37e-01 2006.11.09 2006.11.09 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 67216551 2027432 HumanHap550v1.1_rs2027432 1.37e-01 2006.11.14 2006.11.14 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 67610355 2027432 HumanHap650Yv1.0_rs2027432 1.37e-01 2006.11.14 2006.11.14 2001.04.12 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 68800557 2027432 PGP03991303 1.37e-01 2007.01.30 2007.08.14 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 70694816 2027432 HumanHap550v3.0__rs2027432 1.37e-01 2007.04.20 2008.03.30 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 71260229 2027432 HumanHap650Yv3.0_rs2027432 1.37e-01 2007.04.23 2007.04.23 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 75541159 2027432 ILMN_Human_1M_rs2027432 1.37e-01 2007.08.29 2007.08.29 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 79108274 2027432 HumanHap300v2.0_rs2027432 1.37e-01 2007.11.18 2007.11.18 2001.04.12 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 83947925 2027432 KHS581059 1.37e-01 2007.12.06 2007.12.06 2001.04.12 2012.11.28 137 HGSV 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 85222327 2027432 Cor19129_SNV_20070510.chr1_243904482 1.37e-01 2007.12.08 2007.12.08 2001.04.12 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 88051201 2027432 JWB-0217770 1.37e-01 2008.02.27 2008.02.27 2001.04.12 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 98020123 2027432 1103675395101 1.37e-01 2008.03.30 2008.03.30 2001.04.12 2012.11.28 137 BGI 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 106647964 2027432 BGI_rs2027432 1.37e-01 2008.09.17 2009.06.17 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 109136411 2027432 CEU.trio.12.15.2008_293404_chr1_245645064 1.37e-01 2008.12.16 2008.12.16 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 112114254 2027432 NA19240_2008_12_16_266097_chr1_245645064 1.37e-01 2008.12.17 2008.12.17 2001.04.12 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 119287707 2027432 NA18507_000265577_NCBI36.1_chr1_245645064 1.37e-01 2009.01.22 2009.01.22 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 120244736 2027432 GS0006561-OPA_rs2027432-119.1_T_R_1039487 1.37e-01 2009.03.17 2009.03.17 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 121889082 2027432 HumanCNV370v1_C_rs2027432 1.37e-01 2009.04.14 2009.04.14 2001.04.12 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 138194228 2027432 ENSSNP6834013 1.37e-01 2009.05.17 2009.05.17 2001.04.12 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 138997980 2027432 ENSSNP197661 1.37e-01 2009.05.18 2009.10.16 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 153820681 2027432 Human610_Quadv1_B_rs2027432-128_T_R_1501701642 1.37e-01 2009.06.19 2009.06.20 2001.04.12 2012.11.28 137 GMI 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 156563774 2027432 GMI_SNP_36687630 1.37e-01 2009.06.25 2009.06.25 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 159350241 2027432 Human660W-Quad_v1_A_rs2027432-128_T_R_1501701642 1.37e-01 2009.07.07 2009.07.07 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 160490329 2027432 HumanOmni1-Quad_v1-0_B_rs2027432-128_T_R_1501701642 1.37e-01 2009.08.06 2009.10.02 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 165635932 2027432 NA19240_36_chr1_245645064 1.37e-01 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 165961861 2027432 NA07022_36_chr1_245645064 1.37e-01 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 167597112 2027432 NA20431_36_chr1_245645064 1.37e-01 2009.09.30 2009.09.30 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 170955534 2027432 HumanCNV370-Quadv3_C_rs2027432-128_T_R_1501701642 1.37e-01 2009.10.01 2009.10.03 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 173052679 2027432 Human1M-Duov3_B_rs2027432-128_T_R_1501701642 1.37e-01 2009.10.02 2009.10.02 2001.04.12 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 199903728 2027432 BUSHMAN-chr1-245645063 1.37e-01 2010.03.07 2010.03.07 2001.04.12 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 205116878 2027432 BCM_CMT_1011-38312 1.37e-01 2010.03.15 2010.03.15 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 219005597 2027432 pilot_1_YRI_815280_chr1_245645064 1.37e-01 2010.04.22 2010.04.22 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 230995405 2027432 pilot_1_CEU_600034_chr1_245645064 1.37e-01 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 238590398 2027432 pilot_1_CHB+JPT_475475_chr1_245645064 1.37e-01 2010.05.01 2010.05.01 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 244255633 2027432 Linkage_12_rs2027432 1.37e-01 2010.06.09 2010.06.09 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 244286296 2027432 CVDSNP55v1_A_rs2027432 1.37e-01 2010.06.10 2010.06.10 2001.04.12 2012.11.28 137 BL 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 253948911 2027432 SNP242636_1_245645064 1.37e-01 2010.08.19 2010.08.19 2001.04.12 2012.11.28 137 GMI 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 276310465 2027432 GMI_AK_SNP_630632 1.37e-01 2010.12.16 2010.12.16 2001.04.12 2012.11.28 137 PJP 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 290789417 2027432 SNP_295775_chr1_245645064 1.37e-01 2011.01.21 2011.01.21 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 410918283 2027432 Cardio-Metabo_Chip_11395247_A_rs2027432 1.37e-01 2011.06.07 2011.06.07 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 480386526 2027432 HumanOmni2.5-4v1_B_rs2027432-128_T_R_1690757383 1.37e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 480399305 2027432 HumanOmniExpress-12v1_C_rs2027432-131_T_R_1857087959 1.37e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 481176733 2027432 HumanOmni1-Quad_v1-0_C_rs2027432-131_T_R_1865178102 1.37e-01 2012.01.31 2012.01.31 2001.04.12 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578441A>G;NG_007509.2:g.3967A>G;NM_001079821.2:c.-1155A>G;NM_001127461.2:c.-1797A>G 484990862 2027432 HumanOmni2.5-4v1_D_rs2027432-131_T_R_1857087959 1.37e-01 2012.02.04 2012.02.04 2001.04.12 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578543G>T;NG_007509.2:g.4069G>T;NM_001079821.2:c.-1053G>T;NM_001127461.2:c.-1695G>T 454808076 185048468 20101123_snps_975306_chr1_247578543 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247578589T>C;NG_007509.2:g.4115T>C;NM_001079821.2:c.-1007T>C;NM_001127461.2:c.-1649T>C 329363725 149727311 20100804_snps_1007261_chr1_247578589 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HOFFMANLAB 114548 NC_000001.10:g.247578860G>A;NG_007509.2:g.4386G>A;NM_001079821.2:c.-736G>A;NM_001127461.2:c.-1378G>A 105106755 72553858 Pro SNP -3242 1.10e-02 2008.07.15 2008.07.15 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247578860G>A;NG_007509.2:g.4386G>A;NM_001079821.2:c.-736G>A;NM_001127461.2:c.-1378G>A 199903732 72553858 BUSHMAN-chr1-245645482 1.10e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578860G>A;NG_007509.2:g.4386G>A;NM_001079821.2:c.-736G>A;NM_001127461.2:c.-1378G>A 219005598 72553858 pilot_1_YRI_815281_chr1_245645483 1.10e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578860G>A;NG_007509.2:g.4386G>A;NM_001079821.2:c.-736G>A;NM_001127461.2:c.-1378G>A 480880809 72553858 HumanOmni2.5-4v1_D_kgp15550976-0_B_R_1836745799 1.10e-02 2012.01.31 2012.01.31 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247578860G>A;NG_007509.2:g.4386G>A;NM_001079821.2:c.-736G>A;NM_001127461.2:c.-1378G>A 482298331 72553858 HumanOmni2.5-4v1_B_SNP1-245645483-0_B_R_1631026584 1.10e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247578880G>T;NG_007509.2:g.4406G>T;NM_001079821.2:c.-716G>T;NM_001127461.2:c.-1358G>T 454808077 188339708 20101123_snps_975307_chr1_247578880 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247579179T>C;NG_007509.2:g.4705T>C;NM_001079821.2:c.-417T>C;NM_001127461.2:c.-1059T>C 454808078 193200295 20101123_snps_975308_chr1_247579179 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 114548 NC_000001.10:g.247579190G>T;NG_007509.2:g.4716G>T;NM_001079821.2:c.-406G>T;NM_001127461.2:c.-1048G>T 88051204 61841167 JWB-2759460 2008.02.27 2008.02.27 2008.03.24 2011.07.08 137 ENSEMBL 114548 NC_000001.10:g.247579190G>T;NG_007509.2:g.4716G>T;NM_001079821.2:c.-406G>T;NM_001127461.2:c.-1048G>T 138194229 61841167 ENSSNP6523664 2009.05.17 2009.05.17 2008.03.24 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247579209T>C;NG_007509.2:g.4735T>C;NM_001079821.2:c.-387T>C;NM_001127461.2:c.-1029T>C 454808079 185177996 20101123_snps_975309_chr1_247579209 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247579220C>T;NG_007509.2:g.4746C>T;NM_001079821.2:c.-376C>T;NM_001127461.2:c.-1018C>T 329363726 145557895 20100804_snps_1007262_chr1_247579220 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GSK-GENETICS 114548 NC_000001.10:g.247579434G>T;NG_007509.2:g.4960G>T;NM_001079821.2:c.-162G>T;NM_001127461.2:c.-804G>T;NM_001127462.2:c.-2663G>T;NM_001243133.1:c.-2669G>T;NM_004895.4:c.-2663G>T;NM_183395.2:c.-2663G>T 491237974 200352097 chr1_245646057 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 YUSUKE 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 4924448 3738448 IMS-JST084196 7.46e-02 2002.07.24 2003.10.10 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 23907882 3738448 afd4351173 7.46e-02 2004.08.21 2004.09.13 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 66585024 3738448 HumanHap300v1.1_rs3738448 7.46e-02 2006.11.09 2006.11.09 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 67298123 3738448 HumanHap550v1.1_rs3738448 7.46e-02 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 67702681 3738448 HumanHap650Yv1.0_rs3738448 7.46e-02 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 68800558 3738448 PGP04351173 7.46e-02 2007.01.30 2007.01.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 70776752 3738448 HumanHap550v3.0__rs3738448 7.46e-02 2007.04.20 2008.03.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 71352849 3738448 HumanHap650Yv3.0_rs3738448 7.46e-02 2007.04.23 2007.04.23 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 74954750 3738448 ILMN_Human_1M_rs3738448 7.46e-02 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 77421573 3738448 Cor12156_SNV_20070510.chr1_243905476 7.46e-02 2007.10.12 2007.10.12 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 79163655 3738448 HumanHap300v2.0_rs3738448 7.46e-02 2007.11.18 2007.11.18 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 80734725 3738448 KHS1008427 7.46e-02 2007.11.26 2007.11.26 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 82978180 3738448 Cor18956_SNV_20070510.chr1_243905476 7.46e-02 2007.12.04 2007.12.04 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 84161530 3738448 KHS648030 7.46e-02 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 88051206 3738448 JWB-0217771 7.46e-02 2008.02.27 2008.02.27 2002.08.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 102842938 3738448 BGI_rs3738448 7.46e-02 2008.06.04 2009.06.17 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 122201696 3738448 HumanCNV370v1_C_rs3738448 7.46e-02 2009.04.15 2009.04.15 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 154263892 3738448 Human610_Quadv1_B_rs3738448-128_T_F_1501754894 7.46e-02 2009.06.20 2009.06.20 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 156563782 3738448 GMI_SNP_35927782 7.46e-02 2009.06.25 2009.06.25 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 159440738 3738448 Human660W-Quad_v1_A_rs3738448-128_T_F_1501754894 7.46e-02 2009.07.07 2009.07.07 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 160633489 3738448 HumanOmni1-Quad_v1-0_B_rs3738448-128_T_F_1501754894 7.46e-02 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 171615806 3738448 HumanCNV370-Quadv3_C_rs3738448-128_T_F_1501754894 7.46e-02 2009.10.01 2009.10.04 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 173616337 3738448 Human1M-Duov3_B_rs3738448-128_T_F_1501754894 7.46e-02 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 205204311 3738448 BCM_CMT_1011-81896 7.46e-02 2010.03.15 2010.03.15 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 230995406 3738448 pilot_1_CEU_600035_chr1_245646058 7.46e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 238590399 3738448 pilot_1_CHB+JPT_475476_chr1_245646058 7.46e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 276310466 3738448 GMI_AK_SNP_630633 7.46e-02 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 480806170 3738448 HumanOmni2.5-4v1_B_rs3738448-128_T_F_1765469158 7.46e-02 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 480821861 3738448 HumanOmniExpress-12v1_C_rs3738448-131_T_F_1857469815 7.46e-02 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 481748829 3738448 HumanOmni1-Quad_v1-0_C_rs3738448-131_T_F_1865175355 7.46e-02 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 485197876 3738448 HumanOmni2.5-4v1_D_rs3738448-131_T_F_1857469815 7.46e-02 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579435G>T;NG_007509.2:g.4961G>T;NM_001079821.2:c.-161G>T;NM_001127461.2:c.-803G>T;NM_001127462.2:c.-2662G>T;NM_001243133.1:c.-2668G>T;NM_004895.4:c.-2662G>T;NM_183395.2:c.-2662G>T 491237975 3738448 chr1_245646058 7.46e-02 2012.03.02 2012.03.02 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579439C>G;NG_007509.2:g.4965C>G;NM_001079821.2:c.-157C>G;NM_001127461.2:c.-799C>G;NM_001127462.2:c.-2658C>G;NM_001243133.1:c.-2664C>G;NM_004895.4:c.-2658C>G;NM_183395.2:c.-2658C>G 219005599 79255773 pilot_1_YRI_815282_chr1_245646062 1.28e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579439C>G;NG_007509.2:g.4965C>G;NM_001079821.2:c.-157C>G;NM_001127461.2:c.-799C>G;NM_001127462.2:c.-2658C>G;NM_001243133.1:c.-2664C>G;NM_004895.4:c.-2658C>G;NM_183395.2:c.-2658C>G 491237976 79255773 chr1_245646062 1.28e-02 2012.03.02 2012.03.02 2009.12.01 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579456T>C;NG_007509.2:g.4982T>C;NM_001079821.2:c.-140T>C;NM_001127461.2:c.-782T>C;NM_001127462.2:c.-2641T>C;NM_001243133.1:c.-2647T>C;NM_004895.4:c.-2641T>C;NM_183395.2:c.-2641T>C 491237977 200404759 chr1_245646079 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579458G>T;NG_007509.2:g.4984G>T;NM_001079821.2:c.-138G>T;NM_001127461.2:c.-780G>T;NM_001127462.2:c.-2639G>T;NM_001243133.1:c.-2645G>T;NM_004895.4:c.-2639G>T;NM_183395.2:c.-2639G>T 491237978 201392008 chr1_245646081 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579467C>T;NG_007509.2:g.4993C>T;NM_001079821.2:c.-129C>T;NM_001127461.2:c.-771C>T;NM_001127462.2:c.-2630C>T;NM_001243133.1:c.-2636C>T;NM_004895.4:c.-2630C>T;NM_183395.2:c.-2630C>T 491237979 199692712 chr1_245646090 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579470T>C;NG_007509.2:g.4996T>C;NM_001079821.2:c.-126T>C;NM_001127461.2:c.-768T>C;NM_001127462.2:c.-2627T>C;NM_001243133.1:c.-2633T>C;NM_004895.4:c.-2627T>C;NM_183395.2:c.-2627T>C 491237980 200906879 chr1_245646093 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247579481G>C;NG_007509.2:g.5007G>C;NM_001079821.2:c.-115G>C;NM_001127461.2:c.-757G>C;NM_001127462.2:c.-2616G>C;NM_001243133.1:c.-2622G>C;NM_004895.4:c.-2616G>C;NM_183395.2:c.-2616G>C 329363727 148868175 20100804_snps_1007263_chr1_247579481 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579481G>C;NG_007509.2:g.5007G>C;NM_001079821.2:c.-115G>C;NM_001127461.2:c.-757G>C;NM_001127462.2:c.-2616G>C;NM_001243133.1:c.-2622G>C;NM_004895.4:c.-2616G>C;NM_183395.2:c.-2616G>C 491237981 148868175 chr1_245646104 4.10e-03 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 ABI 114548 NC_000001.10:g.247579483delG;NG_007509.2:g.5009delG;NM_001079821.2:c.-113delG;NM_001127461.2:c.-755delG;NM_001127462.2:c.-2614delG;NM_001243133.1:c.-2620delG;NM_004895.4:c.-2614delG;NM_183395.2:c.-2614delG 41094997 35728135 hCV33568109 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247579494G>A;NG_007509.2:g.5020G>A;NM_001079821.2:c.-102G>A;NM_001127461.2:c.-744G>A;NM_001127462.2:c.-2603G>A;NM_001243133.1:c.-2609G>A;NM_004895.4:c.-2603G>A;NM_183395.2:c.-2603G>A 491237982 199868068 chr1_245646117 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579502C>G;NG_007509.2:g.5028C>G;NM_001079821.2:c.-101+7C>G;NM_001127461.2:c.-743+7C>G;NM_001127462.2:c.-2595C>G;NM_001243133.1:c.-2601C>G;NM_004895.4:c.-2595C>G;NM_183395.2:c.-2595C>G 491237983 201038711 chr1_245646125 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579508C>A;NG_007509.2:g.5034C>A;NM_001079821.2:c.-101+13C>A;NM_001127461.2:c.-743+13C>A;NM_001127462.2:c.-2589C>A;NM_001243133.1:c.-2595C>A;NM_004895.4:c.-2589C>A;NM_183395.2:c.-2589C>A 491237984 201761538 chr1_245646131 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579509C>T;NG_007509.2:g.5035C>T;NM_001079821.2:c.-101+14C>T;NM_001127461.2:c.-743+14C>T;NM_001127462.2:c.-2588C>T;NM_001243133.1:c.-2594C>T;NM_004895.4:c.-2588C>T;NM_183395.2:c.-2588C>T 491237985 200090694 chr1_245646132 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247579510G>A;NG_007509.2:g.5036G>A;NM_001079821.2:c.-101+15G>A;NM_001127461.2:c.-743+15G>A;NM_001127462.2:c.-2587G>A;NM_001243133.1:c.-2593G>A;NM_004895.4:c.-2587G>A;NM_183395.2:c.-2587G>A 454808080 189714964 20101123_snps_975310_chr1_247579510 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GSK-GENETICS 114548 NC_000001.10:g.247579511C>T;NG_007509.2:g.5037C>T;NM_001079821.2:c.-101+16C>T;NM_001127461.2:c.-743+16C>T;NM_001127462.2:c.-2586C>T;NM_001243133.1:c.-2592C>T;NM_004895.4:c.-2586C>T;NM_183395.2:c.-2586C>T 491237986 201220690 chr1_245646134 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579520G>A;NG_007509.2:g.5046G>A;NM_001079821.2:c.-101+25G>A;NM_001127461.2:c.-743+25G>A;NM_001127462.2:c.-2577G>A;NM_001243133.1:c.-2583G>A;NM_004895.4:c.-2577G>A;NM_183395.2:c.-2577G>A 491237987 201984937 chr1_245646143 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579525C>T;NG_007509.2:g.5051C>T;NM_001079821.2:c.-101+30C>T;NM_001127461.2:c.-743+30C>T;NM_001127462.2:c.-2572C>T;NM_001243133.1:c.-2578C>T;NM_004895.4:c.-2572C>T;NM_183395.2:c.-2572C>T 491237988 200379157 chr1_245646148 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579530G>A;NG_007509.2:g.5056G>A;NM_001079821.2:c.-101+35G>A;NM_001127461.2:c.-743+35G>A;NM_001127462.2:c.-2567G>A;NM_001243133.1:c.-2573G>A;NM_004895.4:c.-2567G>A;NM_183395.2:c.-2567G>A 491237989 201255781 chr1_245646153 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579531G>A;NG_007509.2:g.5057G>A;NM_001079821.2:c.-101+36G>A;NM_001127461.2:c.-743+36G>A;NM_001127462.2:c.-2566G>A;NM_001243133.1:c.-2572G>A;NM_004895.4:c.-2566G>A;NM_183395.2:c.-2566G>A 491237990 202122802 chr1_245646154 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247579534C>A;NC_000001.10:g.247579534C>T;NG_007509.2:g.5060C>A;NG_007509.2:g.5060C>T;NM_001079821.2:c.-101+39C>A;NM_001079821.2:c.-101+39C>T;NM_001127461.2:c.-743+39C>A;NM_001127461.2:c.-743+39C>T;NM_001127462.2:c.-2563C>A;NM_001127462.2:c.-2563C>T;NM_001243133.1:c.-2569C>A;NM_001243133.1:c.-2569C>T;NM_004895.4:c.-2563C>A;NM_004895.4:c.-2563C>T;NM_183395.2:c.-2563C>A;NM_183395.2:c.-2563C>T 454808081 181355031 20101123_snps_975311_chr1_247579534 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579534C>A;NC_000001.10:g.247579534C>T;NG_007509.2:g.5060C>A;NG_007509.2:g.5060C>T;NM_001079821.2:c.-101+39C>A;NM_001079821.2:c.-101+39C>T;NM_001127461.2:c.-743+39C>A;NM_001127461.2:c.-743+39C>T;NM_001127462.2:c.-2563C>A;NM_001127462.2:c.-2563C>T;NM_001243133.1:c.-2569C>A;NM_001243133.1:c.-2569C>T;NM_004895.4:c.-2563C>A;NM_004895.4:c.-2563C>T;NM_183395.2:c.-2563C>A;NM_183395.2:c.-2563C>T 491237991 181355031 chr1_245646157 5.00e-04 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579535G>A;NG_007509.2:g.5061G>A;NM_001079821.2:c.-101+40G>A;NM_001127461.2:c.-743+40G>A;NM_001127462.2:c.-2562G>A;NM_001243133.1:c.-2568G>A;NM_004895.4:c.-2562G>A;NM_183395.2:c.-2562G>A 491237992 201077039 chr1_245646158 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247579537G>A;NG_007509.2:g.5063G>A;NM_001079821.2:c.-101+42G>A;NM_001127461.2:c.-743+42G>A;NM_001127462.2:c.-2560G>A;NM_001243133.1:c.-2566G>A;NM_004895.4:c.-2560G>A;NM_183395.2:c.-2560G>A 491237993 199699767 chr1_245646160 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247579545T>C;NG_007509.2:g.5071T>C;NM_001079821.2:c.-101+50T>C;NM_001127461.2:c.-743+50T>C;NM_001127462.2:c.-2552T>C;NM_001243133.1:c.-2558T>C;NM_004895.4:c.-2552T>C;NM_183395.2:c.-2552T>C 454808082 183561952 20101123_snps_975312_chr1_247579545 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247579545T>C;NG_007509.2:g.5071T>C;NM_001079821.2:c.-101+50T>C;NM_001127461.2:c.-743+50T>C;NM_001127462.2:c.-2552T>C;NM_001243133.1:c.-2558T>C;NM_004895.4:c.-2552T>C;NM_183395.2:c.-2552T>C 491237994 183561952 chr1_245646168 1.80e-03 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579609G>A;NG_007509.2:g.5135G>A;NM_001079821.2:c.-101+114G>A;NM_001127461.2:c.-743+114G>A;NM_001127462.2:c.-2488G>A;NM_001243133.1:c.-2494G>A;NM_004895.4:c.-2488G>A;NM_183395.2:c.-2488G>A 454808083 188289501 20101123_snps_975313_chr1_247579609 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247579701G>A;NG_007509.2:g.5227G>A;NM_001079821.2:c.-101+206G>A;NM_001127461.2:c.-743+206G>A;NM_001127462.2:c.-2396G>A;NM_001243133.1:c.-2402G>A;NM_004895.4:c.-2396G>A;NM_183395.2:c.-2396G>A 99306016 71642411 1103675395094 2008.04.03 2008.04.03 2009.02.13 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247579701G>A;NG_007509.2:g.5227G>A;NM_001079821.2:c.-101+206G>A;NM_001127461.2:c.-743+206G>A;NM_001127462.2:c.-2396G>A;NM_001243133.1:c.-2402G>A;NM_004895.4:c.-2396G>A;NM_183395.2:c.-2396G>A 142655030 71642411 ENSSNP4688857 2009.06.05 2009.10.16 2009.02.13 2011.09.09 137 BGI 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 102842939 72553859 BGI_YHSNP0155527 2.48e-01 2008.06.04 2009.06.17 2009.02.14 2012.11.28 137 HOFFMANLAB 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 105106756 72553859 Pro SNP -2392 2.48e-01 2008.07.15 2008.07.15 2009.02.14 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 119287709 72553859 NA18507_000265578_NCBI36.1_chr1_245646333 2.48e-01 2009.01.22 2009.01.22 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 165961863 72553859 NA07022_36_chr1_245646333 2.48e-01 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 205485465 72553859 BCM_CMT_1011-221830 2.48e-01 2010.03.16 2010.03.16 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 219005600 72553859 pilot_1_YRI_815283_chr1_245646333 2.48e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 230995407 72553859 pilot_1_CEU_600036_chr1_245646333 2.48e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 238590400 72553859 pilot_1_CHB+JPT_475477_chr1_245646333 2.48e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247579710C>G;NG_007509.2:g.5236C>G;NM_001079821.2:c.-101+215C>G;NM_001127461.2:c.-743+215C>G;NM_001127462.2:c.-2387C>G;NM_001243133.1:c.-2393C>G;NM_004895.4:c.-2387C>G;NM_183395.2:c.-2387C>G 276310467 72553859 GMI_AK_SNP_630634 2.48e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579723G>A;NG_007509.2:g.5249G>A;NM_001079821.2:c.-101+228G>A;NM_001127461.2:c.-743+228G>A;NM_001127462.2:c.-2374G>A;NM_001243133.1:c.-2380G>A;NM_004895.4:c.-2374G>A;NM_183395.2:c.-2374G>A 112114262 73136261 NA19240_2008_12_16_266098_chr1_245646346 1.01e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247579723G>A;NG_007509.2:g.5249G>A;NM_001079821.2:c.-101+228G>A;NM_001127461.2:c.-743+228G>A;NM_001127462.2:c.-2374G>A;NM_001243133.1:c.-2380G>A;NM_004895.4:c.-2374G>A;NM_183395.2:c.-2374G>A 165635941 73136261 NA19240_36_chr1_245646346 1.01e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579723G>A;NG_007509.2:g.5249G>A;NM_001079821.2:c.-101+228G>A;NM_001127461.2:c.-743+228G>A;NM_001127462.2:c.-2374G>A;NM_001243133.1:c.-2380G>A;NM_004895.4:c.-2374G>A;NM_183395.2:c.-2374G>A 219005601 73136261 pilot_1_YRI_815284_chr1_245646346 1.01e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 BGI 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 102842940 72553860 BGI_YHSNP0155528 2.49e-01 2008.06.04 2009.06.17 2009.02.14 2012.11.28 137 HOFFMANLAB 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 105106757 72553860 Pro SNP -2353 2.49e-01 2008.07.15 2008.07.15 2009.02.14 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 119287710 72553860 NA18507_000265579_NCBI36.1_chr1_245646372 2.49e-01 2009.01.22 2009.01.22 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 165961866 72553860 NA07022_36_chr1_245646372 2.49e-01 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 167597114 72553860 NA20431_36_chr1_245646372 2.49e-01 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 199903736 72553860 BUSHMAN-chr1-245646371 2.49e-01 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 205358093 72553860 BCM_CMT_1011-158548 2.49e-01 2010.03.15 2010.03.15 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 219005602 72553860 pilot_1_YRI_815285_chr1_245646372 2.49e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 230995408 72553860 pilot_1_CEU_600037_chr1_245646372 2.49e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 238590401 72553860 pilot_1_CHB+JPT_475478_chr1_245646372 2.49e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 276310468 72553860 GMI_AK_SNP_630635 2.49e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 482298337 72553860 HumanOmni2.5-4v1_B_SNP1-245646372-0_B_R_1632761043 2.49e-01 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579749A>G;NG_007509.2:g.5275A>G;NM_001079821.2:c.-101+254A>G;NM_001127461.2:c.-743+254A>G;NM_001127462.2:c.-2348A>G;NM_001243133.1:c.-2354A>G;NM_004895.4:c.-2348A>G;NM_183395.2:c.-2348A>G 483593464 72553860 HumanOmni2.5-4v1_D_kgp5726054-0_B_R_1817291959 2.49e-01 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579774C>A;NG_007509.2:g.5300C>A;NM_001079821.2:c.-101+279C>A;NM_001127461.2:c.-743+279C>A;NM_001127462.2:c.-2323C>A;NM_001243133.1:c.-2329C>A;NM_004895.4:c.-2323C>A;NM_183395.2:c.-2323C>A 329363728 143299932 20100804_snps_1007264_chr1_247579774 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247579818C>A;NG_007509.2:g.5344C>A;NM_001079821.2:c.-101+323C>A;NM_001127461.2:c.-743+323C>A;NM_001127462.2:c.-2279C>A;NM_001243133.1:c.-2285C>A;NM_004895.4:c.-2279C>A;NM_183395.2:c.-2279C>A 230995409 115160367 pilot_1_CEU_600038_chr1_245646441 9.00e-04 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 18179109 12079994 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12243272 1.27e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 102842941 12079994 BGI_rs12079994 1.27e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 112114270 12079994 NA19240_2008_12_16_266099_chr1_245646531 1.27e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 165635951 12079994 NA19240_36_chr1_245646531 1.27e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 199903740 12079994 BUSHMAN-chr1-245646530 1.27e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 205138585 12079994 BCM_CMT_1011-49163 1.27e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 219005603 12079994 pilot_1_YRI_815286_chr1_245646531 1.27e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 230995410 12079994 pilot_1_CEU_600039_chr1_245646531 1.27e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 238590402 12079994 pilot_1_CHB+JPT_475479_chr1_245646531 1.27e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 276310469 12079994 GMI_AK_SNP_630636 1.27e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 480552746 12079994 HumanOmni2.5-4v1_D_kgp1429004-0_T_F_1821133617 1.27e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247579908G>A;NG_007509.2:g.5434G>A;NM_001079821.2:c.-101+413G>A;NM_001127461.2:c.-743+413G>A;NM_001127462.2:c.-2189G>A;NM_001243133.1:c.-2195G>A;NM_004895.4:c.-2189G>A;NM_183395.2:c.-2189G>A 482298340 12079994 HumanOmni2.5-4v1_B_SNP1-245646531-0_T_F_1621625379 1.27e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247579939C>T;NG_007509.2:g.5465C>T;NM_001079821.2:c.-101+444C>T;NM_001127461.2:c.-743+444C>T;NM_001127462.2:c.-2158C>T;NM_001243133.1:c.-2164C>T;NM_004895.4:c.-2158C>T;NM_183395.2:c.-2158C>T 454808084 181855490 20101123_snps_975314_chr1_247579939 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247579940G>A;NG_007509.2:g.5466G>A;NM_001079821.2:c.-101+445G>A;NM_001127461.2:c.-743+445G>A;NM_001127462.2:c.-2157G>A;NM_001243133.1:c.-2163G>A;NM_004895.4:c.-2157G>A;NM_183395.2:c.-2157G>A 329363729 147890526 20100804_snps_1007265_chr1_247579940 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247580074C>T;NG_007509.2:g.5600C>T;NM_001079821.2:c.-101+579C>T;NM_001127461.2:c.-743+579C>T;NM_001127462.2:c.-2023C>T;NM_001243133.1:c.-2029C>T;NM_004895.4:c.-2023C>T;NM_183395.2:c.-2023C>T 454808085 186454093 20101123_snps_975315_chr1_247580074 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 9826373 6426246 chr1.NT_004536.14_1579733 6.90e-03 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 11358061 6426246 chr1.NT_004536.14_1579733 6.90e-03 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 15418959 6426246 NT_004836.15_12243545 6.90e-03 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 20469753 6426246 WGSA-200403-chr1.chr1.NT_004836.15_12243545 6.90e-03 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ABI 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 43906166 6426246 hCV29190932 6.90e-03 2005.07.18 2006.11.03 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 78403644 6426246 Cor12878_SNV_20070510.chr1_243906222 6.90e-03 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 88051208 6426246 JWB-0217772 6.90e-03 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 98020124 6426246 1103675395102 6.90e-03 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 106647965 6426246 BGI_rs6426246 6.90e-03 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 109136415 6426246 CEU.trio.12.15.2008_293405_chr1_245646804 6.90e-03 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 112114278 6426246 NA19240_2008_12_16_266100_chr1_245646804 6.90e-03 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 119287712 6426246 NA18507_000265580_NCBI36.1_chr1_245646804 6.90e-03 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 138194230 6426246 ENSSNP11747532 6.90e-03 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 138997977 6426246 ENSSNP197662 6.90e-03 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 156563789 6426246 GMI_SNP_36922368 6.90e-03 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 165635958 6426246 NA19240_36_chr1_245646804 6.90e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 165961869 6426246 NA07022_36_chr1_245646804 6.90e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 167597116 6426246 NA20431_36_chr1_245646804 6.90e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 199903744 6426246 BUSHMAN-chr1-245646803 6.90e-03 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 205161931 6426246 BCM_CMT_1011-60706 6.90e-03 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 219005604 6426246 pilot_1_YRI_815287_chr1_245646804 6.90e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 230995411 6426246 pilot_1_CEU_600040_chr1_245646804 6.90e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 253948913 6426246 SNP242637_1_245646804 6.90e-03 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 276310470 6426246 GMI_AK_SNP_630637 6.90e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247580181C>A;NG_007509.2:g.5707C>A;NM_001079821.2:c.-101+686C>A;NM_001127461.2:c.-743+686C>A;NM_001127462.2:c.-1916C>A;NM_001243133.1:c.-1922C>A;NM_004895.4:c.-1916C>A;NM_183395.2:c.-1916C>A 290789418 6426246 SNP_295776_chr1_245646804 6.90e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580416T>C;NG_007509.2:g.5942T>C;NM_001079821.2:c.-101+921T>C;NM_001127461.2:c.-743+921T>C;NM_001127462.2:c.-1681T>C;NM_001243133.1:c.-1687T>C;NM_004895.4:c.-1681T>C;NM_183395.2:c.-1681T>C 454808086 191981446 20101123_snps_975316_chr1_247580416 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 114548 NC_000001.10:g.247580420C>G;NG_007509.2:g.5946C>G;NM_001079821.2:c.-101+925C>G;NM_001127461.2:c.-743+925C>G;NM_001127462.2:c.-1677C>G;NM_001243133.1:c.-1683C>G;NM_004895.4:c.-1677C>G;NM_183395.2:c.-1677C>G 199903748 76945969 BUSHMAN-chr1-245647042 9.60e-03 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580420C>G;NG_007509.2:g.5946C>G;NM_001079821.2:c.-101+925C>G;NM_001127461.2:c.-743+925C>G;NM_001127462.2:c.-1677C>G;NM_001243133.1:c.-1683C>G;NM_004895.4:c.-1677C>G;NM_183395.2:c.-1677C>G 219005605 76945969 pilot_1_YRI_815288_chr1_245647043 9.60e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580460A>G;NG_007509.2:g.5986A>G;NM_001079821.2:c.-101+965A>G;NM_001127461.2:c.-742-895A>G;NM_001127462.2:c.-1637A>G;NM_001243133.1:c.-1643A>G;NM_004895.4:c.-1637A>G;NM_183395.2:c.-1637A>G 329363730 141551614 20100804_snps_1007266_chr1_247580460 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 6810136 4925648 NT_031730.6_368788 1.45e-01 2003.02.14 2006.10.25 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 68800559 4925648 PGP05160035 1.45e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 75145573 4925648 ILMN_Human_1M_rs4925648 1.45e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 119494538 4925648 KHS1656785 1.45e-01 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 160728723 4925648 HumanOmni1-Quad_v1-0_B_rs4925648-128_T_R_1514109377 1.45e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 167597118 4925648 NA20431_36_chr1_245647191 1.45e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 173877303 4925648 Human1M-Duov3_B_rs4925648-128_T_R_1514109377 1.45e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 199903752 4925648 BUSHMAN-chr1-245647190 1.45e-01 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 219005606 4925648 pilot_1_YRI_815289_chr1_245647191 1.45e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 230995412 4925648 pilot_1_CEU_600041_chr1_245647191 1.45e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 238590403 4925648 pilot_1_CHB+JPT_475480_chr1_245647191 1.45e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 244302027 4925648 CVDSNP55v1_A_rs4925648 1.45e-01 2010.06.10 2010.06.10 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 276310471 4925648 GMI_AK_SNP_630638 1.45e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 481103102 4925648 HumanOmni2.5-4v1_B_rs4925648-128_T_R_1775059373 1.45e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 481125099 4925648 HumanOmniExpress-12v1_C_rs4925648-131_T_R_1857729493 1.45e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 482115815 4925648 HumanOmni1-Quad_v1-0_C_rs4925648-131_T_R_1865734537 1.45e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247580568C>T;NG_007509.2:g.6094C>T;NM_001079821.2:c.-100-963C>T;NM_001127461.2:c.-742-787C>T;NM_001127462.2:c.-1529C>T;NM_001243133.1:c.-1535C>T;NM_004895.4:c.-1529C>T;NM_183395.2:c.-1529C>T 485346628 4925648 HumanOmni2.5-4v1_D_rs4925648-131_T_R_1857729493 1.45e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580577T>C;NG_007509.2:g.6103T>C;NM_001079821.2:c.-100-954T>C;NM_001127461.2:c.-742-778T>C;NM_001127462.2:c.-1520T>C;NM_001243133.1:c.-1526T>C;NM_004895.4:c.-1520T>C;NM_183395.2:c.-1520T>C 454808087 181639629 20101123_snps_975317_chr1_247580577 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247580709G>A;NG_007509.2:g.6235G>A;NM_001079821.2:c.-100-822G>A;NM_001127461.2:c.-742-646G>A;NM_001127462.2:c.-1388G>A;NM_001243133.1:c.-1394G>A;NM_004895.4:c.-1388G>A;NM_183395.2:c.-1388G>A 454808088 186808416 20101123_snps_975318_chr1_247580709 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HOFFMANLAB 114548 NC_000001.10:g.247580810T>C;NG_007509.2:g.6336T>C;NM_001079821.2:c.-100-721T>C;NM_001127461.2:c.-742-545T>C;NM_001127462.2:c.-1287T>C;NM_001243133.1:c.-1293T>C;NM_004895.4:c.-1287T>C;NM_183395.2:c.-1287T>C 105106758 72553861 Pro SNP -1293 1.45e-01 2008.07.15 2008.07.15 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247580810T>C;NG_007509.2:g.6336T>C;NM_001079821.2:c.-100-721T>C;NM_001127461.2:c.-742-545T>C;NM_001127462.2:c.-1287T>C;NM_001243133.1:c.-1293T>C;NM_004895.4:c.-1287T>C;NM_183395.2:c.-1287T>C 167597120 72553861 NA20431_36_chr1_245647433 1.45e-01 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247580810T>C;NG_007509.2:g.6336T>C;NM_001079821.2:c.-100-721T>C;NM_001127461.2:c.-742-545T>C;NM_001127462.2:c.-1287T>C;NM_001243133.1:c.-1293T>C;NM_004895.4:c.-1287T>C;NM_183395.2:c.-1287T>C 199903756 72553861 BUSHMAN-chr1-245647432 1.45e-01 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247580810T>C;NG_007509.2:g.6336T>C;NM_001079821.2:c.-100-721T>C;NM_001127461.2:c.-742-545T>C;NM_001127462.2:c.-1287T>C;NM_001243133.1:c.-1293T>C;NM_004895.4:c.-1287T>C;NM_183395.2:c.-1287T>C 276310472 72553861 GMI_AK_SNP_630639 1.45e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247580810T>C;NG_007509.2:g.6336T>C;NM_001079821.2:c.-100-721T>C;NM_001127461.2:c.-742-545T>C;NM_001127462.2:c.-1287T>C;NM_001243133.1:c.-1293T>C;NM_004895.4:c.-1287T>C;NM_183395.2:c.-1287T>C 329363731 72553861 20100804_snps_1007267_chr1_247580810 1.45e-01 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 ABI 114548 NC_000001.10:g.247580966_247580967insA;NG_007509.2:g.6492_6493insA;NM_001079821.2:c.-100-565_-100-564insA;NM_001127461.2:c.-742-389_-742-388insA;NM_001127462.2:c.-1131_-1130insA;NM_001243133.1:c.-1137_-1136insA;NM_004895.4:c.-1131_-1130insA;NM_183395.2:c.-1131_-1130insA 41054579 34912656 hCV33568110 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HOFFMANLAB 114548 NC_000001.10:g.247581039C>T;NG_007509.2:g.6565C>T;NM_001079821.2:c.-100-492C>T;NM_001127461.2:c.-742-316C>T;NM_001127462.2:c.-1058C>T;NM_001243133.1:c.-1064C>T;NM_004895.4:c.-1058C>T;NM_183395.2:c.-1058C>T 105106759 72553862 Pro SNP -1064 2008.07.15 2008.07.15 2009.02.14 2011.07.08 137 GMI 114548 NC_000001.10:g.247581203G>A;NG_007509.2:g.6729G>A;NM_001079821.2:c.-100-328G>A;NM_001127461.2:c.-742-152G>A;NM_001127462.2:c.-894G>A;NM_001243133.1:c.-900G>A;NM_004895.4:c.-894G>A;NM_183395.2:c.-894G>A 276310473 200673221 GMI_AK_SNP_630640 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 KRIBB_YJKIM 114548 NC_000001.10:g.247581208G>C;NC_000001.10:g.247581208G>T;NG_007509.2:g.6734G>C;NG_007509.2:g.6734G>T;NM_001079821.2:c.-100-323G>C;NM_001079821.2:c.-100-323G>T;NM_001127461.2:c.-742-147G>C;NM_001127461.2:c.-742-147G>T;NM_001127462.2:c.-889G>C;NM_001127462.2:c.-889G>T;NM_001243133.1:c.-895G>C;NM_001243133.1:c.-895G>T;NM_004895.4:c.-889G>C;NM_004895.4:c.-889G>T;NM_183395.2:c.-889G>C;NM_183395.2:c.-889G>T 119754516 75023197 KHS1834072 2009.02.05 2009.02.05 2009.12.01 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 18283273 12137901 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12244573 2.85e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 43816992 12137901 hCV26646000 2.85e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 SI_EXO 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 52070061 12137901 NT_004836.16_12338998 2.85e-01 2006.03.29 2006.03.29 2004.02.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 68800560 12137901 PGP07161706 2.85e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 75051550 12137901 ILMN_Human_1M_rs12137901 2.85e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 83372135 12137901 Cor19240_SNV_20070510.chr1_243907250 2.85e-01 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 99306017 12137901 1103675395095 2.85e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 102842942 12137901 BGI_rs12137901 2.85e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 112114286 12137901 NA19240_2008_12_16_266101_chr1_245647832 2.85e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 119287714 12137901 NA18507_000265581_NCBI36.1_chr1_245647832 2.85e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 131774249 12137901 ENSSNP197663 2.85e-01 2009.05.11 2009.10.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 160036567 12137901 HumanOmni1-Quad_v1-0_B_rs12137901-128_T_R_1513988727 2.85e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 165635970 12137901 NA19240_36_chr1_245647832 2.85e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 165961873 12137901 NA07022_36_chr1_245647832 2.85e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 167597122 12137901 NA20431_36_chr1_245647832 2.85e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 171886998 12137901 Human1M-Duov3_B_rs12137901-128_T_R_1513988727 2.85e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 199903760 12137901 BUSHMAN-chr1-245647831 2.85e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 205389609 12137901 BCM_CMT_1011-174012 2.85e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 219005607 12137901 pilot_1_YRI_815290_chr1_245647832 2.85e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 230995413 12137901 pilot_1_CEU_600042_chr1_245647832 2.85e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 238590404 12137901 pilot_1_CHB+JPT_475481_chr1_245647832 2.85e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 244275504 12137901 CVDSNP55v1_A_rs12137901 2.85e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 276310474 12137901 GMI_AK_SNP_630641 2.85e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 290789419 12137901 SNP_295777_chr1_245647832 2.85e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 479680269 12137901 HumanOmni2.5-4v1_B_rs12137901-128_T_R_1782957053 2.85e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 479685762 12137901 HumanOmniExpress-12v1_C_rs12137901-131_T_R_1857382254 2.85e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 480211934 12137901 HumanOmni1-Quad_v1-0_C_rs12137901-131_T_R_1865775107 2.85e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581209T>C;NG_007509.2:g.6735T>C;NM_001079821.2:c.-100-322T>C;NM_001127461.2:c.-742-146T>C;NM_001127462.2:c.-888T>C;NM_001243133.1:c.-894T>C;NM_004895.4:c.-888T>C;NM_183395.2:c.-888T>C 484638685 12137901 HumanOmni2.5-4v1_D_rs12137901-131_T_R_1857382254 2.85e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581305T>G;NG_007509.2:g.6831T>G;NM_001079821.2:c.-100-226T>G;NM_001127461.2:c.-742-50T>G;NM_001127462.2:c.-792T>G;NM_001243133.1:c.-798T>G;NM_004895.4:c.-792T>G;NM_183395.2:c.-792T>G 491237995 201277807 chr1_245647928 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581357G>C;NG_007509.2:g.6883G>C;NM_001079821.2:c.-100-174G>C;NM_001127461.2:c.-740G>C;NM_001127462.2:c.-740G>C;NM_001243133.1:c.-746G>C;NM_004895.4:c.-740G>C;NM_183395.2:c.-740G>C 491237996 199534127 chr1_245647980 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581365T>A;NG_007509.2:g.6891T>A;NM_001079821.2:c.-100-166T>A;NM_001127461.2:c.-732T>A;NM_001127462.2:c.-732T>A;NM_001243133.1:c.-738T>A;NM_004895.4:c.-732T>A;NM_183395.2:c.-732T>A 491237997 200664977 chr1_245647988 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581389T>A;NG_007509.2:g.6915T>A;NM_001079821.2:c.-100-142T>A;NM_001127461.2:c.-708T>A;NM_001127462.2:c.-708T>A;NM_001243133.1:c.-714T>A;NM_004895.4:c.-708T>A;NM_183395.2:c.-708T>A 491237998 201990447 chr1_245648012 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581393C>T;NG_007509.2:g.6919C>T;NM_001079821.2:c.-100-138C>T;NM_001127461.2:c.-704C>T;NM_001127462.2:c.-704C>T;NM_001243133.1:c.-710C>T;NM_004895.4:c.-704C>T;NM_183395.2:c.-704C>T 491237999 199723383 chr1_245648016 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581399T>A;NG_007509.2:g.6925T>A;NM_001079821.2:c.-100-132T>A;NM_001127461.2:c.-698T>A;NM_001127462.2:c.-698T>A;NM_001243133.1:c.-704T>A;NM_004895.4:c.-698T>A;NM_183395.2:c.-698T>A 491238000 201005443 chr1_245648022 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581405C>T;NG_007509.2:g.6931C>T;NM_001079821.2:c.-100-126C>T;NM_001127461.2:c.-692C>T;NM_001127462.2:c.-692C>T;NM_001243133.1:c.-698C>T;NM_004895.4:c.-692C>T;NM_183395.2:c.-692C>T 491238001 201665726 chr1_245648028 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581407C>T;NG_007509.2:g.6933C>T;NM_001079821.2:c.-100-124C>T;NM_001127461.2:c.-690C>T;NM_001127462.2:c.-690C>T;NM_001243133.1:c.-696C>T;NM_004895.4:c.-690C>T;NM_183395.2:c.-690C>T 491238002 199948420 chr1_245648030 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581409G>A;NG_007509.2:g.6935G>A;NM_001079821.2:c.-100-122G>A;NM_001127461.2:c.-688G>A;NM_001127462.2:c.-688G>A;NM_001243133.1:c.-694G>A;NM_004895.4:c.-688G>A;NM_183395.2:c.-688G>A 491238003 201110745 chr1_245648032 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581417C>T;NG_007509.2:g.6943C>T;NM_001079821.2:c.-100-114C>T;NM_001127461.2:c.-680C>T;NM_001127462.2:c.-680C>T;NM_001243133.1:c.-686C>T;NM_004895.4:c.-680C>T;NM_183395.2:c.-680C>T 491238004 201896158 chr1_245648040 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581423A>C;NG_007509.2:g.6949A>C;NM_001079821.2:c.-100-108A>C;NM_001127461.2:c.-674A>C;NM_001127462.2:c.-674A>C;NM_001243133.1:c.-680A>C;NM_004895.4:c.-674A>C;NM_183395.2:c.-674A>C 491238005 199862179 chr1_245648046 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581433T>C;NG_007509.2:g.6959T>C;NM_001079821.2:c.-100-98T>C;NM_001127461.2:c.-664T>C;NM_001127462.2:c.-664T>C;NM_001243133.1:c.-670T>C;NM_004895.4:c.-664T>C;NM_183395.2:c.-664T>C 491238006 201034341 chr1_245648056 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581438G>A;NG_007509.2:g.6964G>A;NM_001079821.2:c.-100-93G>A;NM_001127461.2:c.-659G>A;NM_001127462.2:c.-659G>A;NM_001243133.1:c.-665G>A;NM_004895.4:c.-659G>A;NM_183395.2:c.-659G>A 491238007 202204798 chr1_245648061 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247581456C>T;NG_007509.2:g.6982C>T;NM_001079821.2:c.-100-75C>T;NM_001127461.2:c.-641C>T;NM_001127462.2:c.-641C>T;NM_001243133.1:c.-647C>T;NM_004895.4:c.-641C>T;NM_183395.2:c.-641C>T 454808089 191304686 20101123_snps_975319_chr1_247581456 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GSK-GENETICS 114548 NC_000001.10:g.247581474C>T;NG_007509.2:g.7000C>T;NM_001079821.2:c.-100-57C>T;NM_001127461.2:c.-623C>T;NM_001127462.2:c.-623C>T;NM_001243133.1:c.-629C>T;NM_004895.4:c.-623C>T;NM_183395.2:c.-623C>T 491238008 200090360 chr1_245648097 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581475G>A;NG_007509.2:g.7001G>A;NM_001079821.2:c.-100-56G>A;NM_001127461.2:c.-622G>A;NM_001127462.2:c.-622G>A;NM_001243133.1:c.-628G>A;NM_004895.4:c.-622G>A;NM_183395.2:c.-622G>A 491238009 201019347 chr1_245648098 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581482G>A;NG_007509.2:g.7008G>A;NM_001079821.2:c.-100-49G>A;NM_001127461.2:c.-615G>A;NM_001127462.2:c.-615G>A;NM_001243133.1:c.-621G>A;NM_004895.4:c.-615G>A;NM_183395.2:c.-615G>A 491238010 201691921 chr1_245648105 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581506T>A;NG_007509.2:g.7032T>A;NM_001079821.2:c.-100-25T>A;NM_001127461.2:c.-591T>A;NM_001127462.2:c.-591T>A;NM_001243133.1:c.-597T>A;NM_004895.4:c.-591T>A;NM_183395.2:c.-591T>A 491238011 200272390 chr1_245648129 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247581522C>T;NG_007509.2:g.7048C>T;NM_001079821.2:c.-100-9C>T;NM_001127461.2:c.-575C>T;NM_001127462.2:c.-575C>T;NM_001243133.1:c.-581C>T;NM_004895.4:c.-575C>T;NM_183395.2:c.-575C>T 329363732 77264251 20100804_snps_1007268_chr1_247581522 1.80e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581526C>T;NG_007509.2:g.7052C>T;NM_001079821.2:c.-100-5C>T;NM_001127461.2:c.-571C>T;NM_001127462.2:c.-571C>T;NM_001243133.1:c.-577C>T;NM_004895.4:c.-571C>T;NM_183395.2:c.-571C>T 491238012 201172197 chr1_245648149 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 109136419 72771992 CEU.trio.12.15.2008_293406_chr1_245648165 9.11e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 199903764 72771992 BUSHMAN-chr1-245648164 9.11e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 219005608 72771992 pilot_1_YRI_815291_chr1_245648165 9.11e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 230995414 72771992 pilot_1_CEU_600043_chr1_245648165 9.11e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 482298343 72771992 HumanOmni2.5-4v1_B_SNP1-245648165-0_B_F_1617586882 9.11e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 482977997 72771992 HumanOmni2.5-4v1_D_kgp24806-0_B_F_1821135827 9.11e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581542T>G;NG_007509.2:g.7068T>G;NM_001079821.2:c.-89T>G;NM_001127461.2:c.-555T>G;NM_001127462.2:c.-555T>G;NM_001243133.1:c.-561T>G;NM_004895.4:c.-555T>G;NM_183395.2:c.-555T>G 491238013 72771992 chr1_245648165 9.11e-02 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581544C>T;NG_007509.2:g.7070C>T;NM_001079821.2:c.-87C>T;NM_001127461.2:c.-553C>T;NM_001127462.2:c.-553C>T;NM_001243133.1:c.-559C>T;NM_004895.4:c.-553C>T;NM_183395.2:c.-553C>T 491238014 200227448 chr1_245648167 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247581560A>T;NG_007509.2:g.7086A>T;NM_001079821.2:c.-71A>T;NM_001127461.2:c.-537A>T;NM_001127462.2:c.-537A>T;NM_001243133.1:c.-543A>T;NM_004895.4:c.-537A>T;NM_183395.2:c.-537A>T 230995415 116502550 pilot_1_CEU_600044_chr1_245648183 5.00e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581560A>T;NG_007509.2:g.7086A>T;NM_001079821.2:c.-71A>T;NM_001127461.2:c.-537A>T;NM_001127462.2:c.-537A>T;NM_001243133.1:c.-543A>T;NM_004895.4:c.-537A>T;NM_183395.2:c.-537A>T 491238015 116502550 chr1_245648183 5.00e-03 2012.03.02 2012.03.02 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581570C>T;NG_007509.2:g.7096C>T;NM_001079821.2:c.-61C>T;NM_001127461.2:c.-527C>T;NM_001127462.2:c.-527C>T;NM_001243133.1:c.-533C>T;NM_004895.4:c.-527C>T;NM_183395.2:c.-527C>T 329363733 141994679 20100804_snps_1007269_chr1_247581570 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581570C>T;NG_007509.2:g.7096C>T;NM_001079821.2:c.-61C>T;NM_001127461.2:c.-527C>T;NM_001127462.2:c.-527C>T;NM_001243133.1:c.-533C>T;NM_004895.4:c.-527C>T;NM_183395.2:c.-527C>T 491238016 141994679 chr1_245648193 2.70e-03 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581599A>G;NG_007509.2:g.7125A>G;NM_001079821.2:c.-39+7A>G;NM_001127461.2:c.-498A>G;NM_001127462.2:c.-498A>G;NM_001243133.1:c.-504A>G;NM_004895.4:c.-498A>G;NM_183395.2:c.-498A>G 491238017 200736896 chr1_245648222 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581604G>A;NG_007509.2:g.7130G>A;NM_001079821.2:c.-39+12G>A;NM_001127461.2:c.-493G>A;NM_001127462.2:c.-493G>A;NM_001243133.1:c.-499G>A;NM_004895.4:c.-493G>A;NM_183395.2:c.-493G>A 491238018 201532709 chr1_245648227 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 PJP 114548 NC_000001.10:g.247581610delT;NG_007509.2:g.7136delT;NM_001079821.2:c.-39+18delT;NM_001127461.2:c.-487delT;NM_001127462.2:c.-487delT;NM_001243133.1:c.-493delT;NM_004895.4:c.-487delT;NM_183395.2:c.-487delT 294636715 144128307 DIP_74419_chr1_245648244 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247581622G>A;NG_007509.2:g.7148G>A;NM_001079821.2:c.-39+30G>A;NM_001127461.2:c.-475G>A;NM_001127462.2:c.-475G>A;NM_001243133.1:c.-481G>A;NM_004895.4:c.-475G>A;NM_183395.2:c.-475G>A 491238019 199540323 chr1_245648245 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581629A>G;NG_007509.2:g.7155A>G;NM_001079821.2:c.-39+37A>G;NM_001127461.2:c.-468A>G;NM_001127462.2:c.-468A>G;NM_001243133.1:c.-474A>G;NM_004895.4:c.-468A>G;NM_183395.2:c.-468A>G 491238020 200591671 chr1_245648252 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581642C>T;NG_007509.2:g.7168C>T;NM_001079821.2:c.-39+50C>T;NM_001127461.2:c.-455C>T;NM_001127462.2:c.-455C>T;NM_001243133.1:c.-461C>T;NM_004895.4:c.-455C>T;NM_183395.2:c.-455C>T 491238021 201987078 chr1_245648265 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581643G>A;NG_007509.2:g.7169G>A;NM_001079821.2:c.-39+51G>A;NM_001127461.2:c.-454G>A;NM_001127462.2:c.-454G>A;NM_001243133.1:c.-460G>A;NM_004895.4:c.-454G>A;NM_183395.2:c.-454G>A 491238022 199475727 chr1_245648266 germline untested 2012.03.02 2012.03.02 2012.04.03 2012.11.28 137 GEH 114548 NM_001079821.2:c.-39+51G>A NC_000001.10:g.247581643G>A;NG_007509.2:g.7169G>A;NM_001079821.2:c.-39+51G>A;NM_001127461.2:c.-454G>A;NM_001127462.2:c.-454G>A;NM_001243133.1:c.-460G>A;NM_004895.4:c.-454G>A;NM_183395.2:c.-454G>A 506396346 199475727 NLRP3:-454 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247581646T>C;NG_007509.2:g.7172T>C;NM_001079821.2:c.-39+54T>C;NM_001127461.2:c.-451T>C;NM_001127462.2:c.-451T>C;NM_001243133.1:c.-457T>C;NM_004895.4:c.-451T>C;NM_183395.2:c.-451T>C 20431267 12723129 WGSA-200403-chr1.chr1.NT_004836.15_12245010 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247581658C>T;NG_007509.2:g.7184C>T;NM_001079821.2:c.-39+66C>T;NM_001127461.2:c.-439C>T;NM_001127462.2:c.-439C>T;NM_001243133.1:c.-445C>T;NM_004895.4:c.-439C>T;NM_183395.2:c.-439C>T 20517872 12741148 WGSA-200403-chr1.chr1.NT_004836.15_12245022 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247581665G>A;NG_007509.2:g.7191G>A;NM_001079821.2:c.-39+73G>A;NM_001127461.2:c.-432G>A;NM_001127462.2:c.-432G>A;NM_001243133.1:c.-438G>A;NM_004895.4:c.-432G>A;NM_183395.2:c.-432G>A 491238023 201001049 chr1_245648288 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581671T>G;NG_007509.2:g.7197T>G;NM_001079821.2:c.-39+79T>G;NM_001127461.2:c.-426T>G;NM_001127462.2:c.-426T>G;NM_001243133.1:c.-432T>G;NM_004895.4:c.-426T>G;NM_183395.2:c.-426T>G 491238024 201644164 chr1_245648294 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581674G>A;NG_007509.2:g.7200G>A;NM_001079821.2:c.-39+82G>A;NM_001127461.2:c.-423G>A;NM_001127462.2:c.-423G>A;NM_001243133.1:c.-429G>A;NM_004895.4:c.-423G>A;NM_183395.2:c.-423G>A 491238025 200029144 chr1_245648297 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581679C>T;NG_007509.2:g.7205C>T;NM_001079821.2:c.-39+87C>T;NM_001127461.2:c.-418C>T;NM_001127462.2:c.-418C>T;NM_001243133.1:c.-424C>T;NM_004895.4:c.-418C>T;NM_183395.2:c.-418C>T 491238026 200923765 chr1_245648302 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 WI_SSAHASNP 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 11364443 7523422 chr1.NT_004536.14_1581244 3.20e-03 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 15418960 7523422 NT_004836.15_12245056 3.20e-03 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 77336394 7523422 Cor12156_SNV_20070510.chr1_243907733 3.20e-03 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 88051209 7523422 JWB-0217773 3.20e-03 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 98020125 7523422 1103675395103 3.20e-03 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 106647966 7523422 BGI_rs7523422 3.20e-03 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 138194231 7523422 ENSSNP7374251 3.20e-03 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 144228884 7523422 ENSSNP5592322 3.20e-03 2009.06.06 2009.10.17 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 165635976 7523422 NA19240_36_chr1_245648315 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 165961876 7523422 NA07022_36_chr1_245648315 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 167597124 7523422 NA20431_36_chr1_245648315 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 199903768 7523422 BUSHMAN-chr1-245648314 3.20e-03 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 253948916 7523422 SNP242638_1_245648315 3.20e-03 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 276310475 7523422 GMI_AK_SNP_630642 3.20e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 290789420 7523422 SNP_295778_chr1_245648315 3.20e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 329363734 7523422 20100804_snps_1007270_chr1_247581692 3.20e-03 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581692T>C;NG_007509.2:g.7218T>C;NM_001079821.2:c.-39+100T>C;NM_001127461.2:c.-405T>C;NM_001127462.2:c.-405T>C;NM_001243133.1:c.-411T>C;NM_004895.4:c.-405T>C;NM_183395.2:c.-405T>C 491238027 7523422 chr1_245648315 3.20e-03 2012.03.02 2012.03.02 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247581696C>T;NG_007509.2:g.7222C>T;NM_001079821.2:c.-39+104C>T;NM_001127461.2:c.-401C>T;NM_001127462.2:c.-401C>T;NM_001243133.1:c.-407C>T;NM_004895.4:c.-401C>T;NM_183395.2:c.-401C>T 20517961 12741165 WGSA-200403-chr1.chr1.NT_004836.15_12245060 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247581705T>G;NG_007509.2:g.7231T>G;NM_001079821.2:c.-39+113T>G;NM_001127461.2:c.-392T>G;NM_001127462.2:c.-392T>G;NM_001243133.1:c.-398T>G;NM_004895.4:c.-392T>G;NM_183395.2:c.-392T>G 20431393 12723153 WGSA-200403-chr1.chr1.NT_004836.15_12245069 2004.03.18 2004.03.18 2004.04.05 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581705T>G;NG_007509.2:g.7231T>G;NM_001079821.2:c.-39+113T>G;NM_001127461.2:c.-392T>G;NM_001127462.2:c.-392T>G;NM_001243133.1:c.-398T>G;NM_004895.4:c.-392T>G;NM_183395.2:c.-392T>G 491238028 12723153 chr1_245648328 2012.03.02 2012.03.02 2004.04.05 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247581707A>G;NG_007509.2:g.7233A>G;NM_001079821.2:c.-39+115A>G;NM_001127461.2:c.-390A>G;NM_001127462.2:c.-390A>G;NM_001243133.1:c.-396A>G;NM_004895.4:c.-390A>G;NM_183395.2:c.-390A>G 20517314 12741038 WGSA-200403-chr1.chr1.NT_004836.15_12245071 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247581708A>G;NG_007509.2:g.7234A>G;NM_001079821.2:c.-39+116A>G;NM_001127461.2:c.-389A>G;NM_001127462.2:c.-389A>G;NM_001243133.1:c.-395A>G;NM_004895.4:c.-389A>G;NM_183395.2:c.-389A>G 491238029 200825566 chr1_245648331 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581734G>A;NG_007509.2:g.7260G>A;NM_001079821.2:c.-39+142G>A;NM_001127461.2:c.-363G>A;NM_001127462.2:c.-363G>A;NM_001243133.1:c.-369G>A;NM_004895.4:c.-363G>A;NM_183395.2:c.-363G>A 491238030 202203407 chr1_245648357 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581748C>T;NG_007509.2:g.7274C>T;NM_001079821.2:c.-39+156C>T;NM_001127461.2:c.-349C>T;NM_001127462.2:c.-349C>T;NM_001243133.1:c.-355C>T;NM_004895.4:c.-349C>T;NM_183395.2:c.-349C>T 491238031 200486349 chr1_245648371 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581749G>A;NG_007509.2:g.7275G>A;NM_001079821.2:c.-39+157G>A;NM_001127461.2:c.-348G>A;NM_001127462.2:c.-348G>A;NM_001243133.1:c.-354G>A;NM_004895.4:c.-348G>A;NM_183395.2:c.-348G>A 491238032 201763868 chr1_245648372 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581764C>T;NG_007509.2:g.7290C>T;NM_001079821.2:c.-39+172C>T;NM_001127461.2:c.-333C>T;NM_001127462.2:c.-333C>T;NM_001243133.1:c.-339C>T;NM_004895.4:c.-333C>T;NM_183395.2:c.-333C>T 491238033 201966092 chr1_245648387 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581776G>A;NG_007509.2:g.7302G>A;NM_001079821.2:c.-39+184G>A;NM_001127461.2:c.-321G>A;NM_001127462.2:c.-321G>A;NM_001243133.1:c.-327G>A;NM_004895.4:c.-321G>A;NM_183395.2:c.-321G>A 491238034 200270456 chr1_245648399 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581778A>T;NG_007509.2:g.7304A>T;NM_001079821.2:c.-39+186A>T;NM_001127461.2:c.-319A>T;NM_001127462.2:c.-319A>T;NM_001243133.1:c.-325A>T;NM_004895.4:c.-319A>T;NM_183395.2:c.-319A>T 491238035 201418864 chr1_245648401 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581794C>A;NG_007509.2:g.7320C>A;NM_001079821.2:c.-39+202C>A;NM_001127461.2:c.-303C>A;NM_001127462.2:c.-303C>A;NM_001243133.1:c.-309C>A;NM_004895.4:c.-303C>A;NM_183395.2:c.-303C>A 491238036 199768380 chr1_245648417 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581833A>G;NG_007509.2:g.7359A>G;NM_001079821.2:c.-38-226A>G;NM_001127461.2:c.-264A>G;NM_001127462.2:c.-264A>G;NM_001243133.1:c.-270A>G;NM_004895.4:c.-264A>G;NM_183395.2:c.-264A>G 491238037 200475548 chr1_245648456 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581845C>T;NG_007509.2:g.7371C>T;NM_001079821.2:c.-38-214C>T;NM_001127461.2:c.-252C>T;NM_001127462.2:c.-252C>T;NM_001243133.1:c.-258C>T;NM_004895.4:c.-252C>T;NM_183395.2:c.-252C>T 491238038 201372862 chr1_245648468 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581862T>C;NG_007509.2:g.7388T>C;NM_001079821.2:c.-38-197T>C;NM_001127461.2:c.-235T>C;NM_001127462.2:c.-235T>C;NM_001243133.1:c.-241T>C;NM_004895.4:c.-235T>C;NM_183395.2:c.-235T>C 491238039 199635656 chr1_245648485 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247581872G>A;NG_007509.2:g.7398G>A;NM_001079821.2:c.-38-187G>A;NM_001127461.2:c.-225G>A;NM_001127462.2:c.-225G>A;NM_001243133.1:c.-231G>A;NM_004895.4:c.-225G>A;NM_183395.2:c.-225G>A 329363735 138900557 20100804_snps_1007271_chr1_247581872 2.11e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581872G>A;NG_007509.2:g.7398G>A;NM_001079821.2:c.-38-187G>A;NM_001127461.2:c.-225G>A;NM_001127462.2:c.-225G>A;NM_001243133.1:c.-231G>A;NM_004895.4:c.-225G>A;NM_183395.2:c.-225G>A 491238040 138900557 chr1_245648495 2.11e-02 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581883C>T;NG_007509.2:g.7409C>T;NM_001079821.2:c.-38-176C>T;NM_001127461.2:c.-214C>T;NM_001127462.2:c.-214C>T;NM_001243133.1:c.-220C>T;NM_004895.4:c.-214C>T;NM_183395.2:c.-214C>T 491238041 202062117 chr1_245648506 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581899C>T;NG_007509.2:g.7425C>T;NM_001079821.2:c.-38-160C>T;NM_001127461.2:c.-198C>T;NM_001127462.2:c.-198C>T;NM_001243133.1:c.-204C>T;NM_004895.4:c.-198C>T;NM_183395.2:c.-198C>T 491238042 199913480 chr1_245648522 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581936T>C;NG_007509.2:g.7462T>C;NM_001079821.2:c.-38-123T>C;NM_001127461.2:c.-161T>C;NM_001127462.2:c.-161T>C;NM_001243133.1:c.-167T>C;NM_004895.4:c.-161T>C;NM_183395.2:c.-161T>C 491238043 200544436 chr1_245648559 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 BUSHMAN 114548 NC_000001.10:g.247581938G>C;NG_007509.2:g.7464G>C;NM_001079821.2:c.-38-121G>C;NM_001127461.2:c.-159G>C;NM_001127462.2:c.-159G>C;NM_001243133.1:c.-165G>C;NM_004895.4:c.-159G>C;NM_183395.2:c.-159G>C 199903770 113561993 BUSHMAN-chr1-245648560 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581938G>C;NG_007509.2:g.7464G>C;NM_001079821.2:c.-38-121G>C;NM_001127461.2:c.-159G>C;NM_001127462.2:c.-159G>C;NM_001243133.1:c.-165G>C;NM_004895.4:c.-159G>C;NM_183395.2:c.-159G>C 491238044 113561993 chr1_245648561 2012.03.02 2012.03.02 2010.07.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247581944G>A;NG_007509.2:g.7470G>A;NM_001079821.2:c.-38-115G>A;NM_001127461.2:c.-153G>A;NM_001127462.2:c.-153G>A;NM_001243133.1:c.-159G>A;NM_004895.4:c.-153G>A;NM_183395.2:c.-153G>A 491238045 200087185 chr1_245648567 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581947A>G;NG_007509.2:g.7473A>G;NM_001079821.2:c.-38-112A>G;NM_001127461.2:c.-150A>G;NM_001127462.2:c.-150A>G;NM_001243133.1:c.-156A>G;NM_004895.4:c.-150A>G;NM_183395.2:c.-150A>G 491238046 201020122 chr1_245648570 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581948T>C;NG_007509.2:g.7474T>C;NM_001079821.2:c.-38-111T>C;NM_001127461.2:c.-149T>C;NM_001127462.2:c.-149T>C;NM_001243133.1:c.-155T>C;NM_004895.4:c.-149T>C;NM_183395.2:c.-149T>C 491238047 201642169 chr1_245648571 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581955T>G;NG_007509.2:g.7481T>G;NM_001079821.2:c.-38-104T>G;NM_001127461.2:c.-142T>G;NM_001127462.2:c.-142T>G;NM_001243133.1:c.-148T>G;NM_004895.4:c.-142T>G;NM_183395.2:c.-142T>G 491238048 200027410 chr1_245648578 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581977G>T;NG_007509.2:g.7503G>T;NM_001079821.2:c.-38-82G>T;NM_001127461.2:c.-120G>T;NM_001127462.2:c.-120G>T;NM_001243133.1:c.-126G>T;NM_004895.4:c.-120G>T;NM_183395.2:c.-120G>T 491238049 201118732 chr1_245648600 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581981T>C;NG_007509.2:g.7507T>C;NM_001079821.2:c.-38-78T>C;NM_001127461.2:c.-116T>C;NM_001127462.2:c.-116T>C;NM_001243133.1:c.-122T>C;NM_004895.4:c.-116T>C;NM_183395.2:c.-116T>C 491238050 202234129 chr1_245648604 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247581998T>A;NG_007509.2:g.7524T>A;NM_001079821.2:c.-38-61T>A;NM_001127461.2:c.-99T>A;NM_001127462.2:c.-99T>A;NM_001243133.1:c.-105T>A;NM_004895.4:c.-99T>A;NM_183395.2:c.-99T>A 491238051 200156743 chr1_245648621 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582013T>C;NG_007509.2:g.7539T>C;NM_001079821.2:c.-38-46T>C;NM_001127461.2:c.-84T>C;NM_001127462.2:c.-84T>C;NM_001243133.1:c.-90T>C;NM_004895.4:c.-84T>C;NM_183395.2:c.-84T>C 491238052 200937726 chr1_245648636 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582029G>A;NG_007509.2:g.7555G>A;NM_001079821.2:c.-38-30G>A;NM_001127461.2:c.-68G>A;NM_001127462.2:c.-68G>A;NM_001243133.1:c.-74G>A;NM_004895.4:c.-68G>A;NM_183395.2:c.-68G>A 491238053 202076321 chr1_245648652 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582031G>A;NG_007509.2:g.7557G>A;NM_001079821.2:c.-38-28G>A;NM_001127461.2:c.-66G>A;NM_001127462.2:c.-66G>A;NM_001243133.1:c.-72G>A;NM_004895.4:c.-66G>A;NM_183395.2:c.-66G>A 491238054 200386207 chr1_245648654 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582035C>T;NG_007509.2:g.7561C>T;NM_001079821.2:c.-38-24C>T;NM_001127461.2:c.-62C>T;NM_001127462.2:c.-62C>T;NM_001243133.1:c.-68C>T;NM_004895.4:c.-62C>T;NM_183395.2:c.-62C>T 491238055 201758466 chr1_245648658 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582036G>A;NG_007509.2:g.7562G>A;NM_001079821.2:c.-38-23G>A;NM_001127461.2:c.-61G>A;NM_001127462.2:c.-61G>A;NM_001243133.1:c.-67G>A;NM_004895.4:c.-61G>A;NM_183395.2:c.-61G>A 491238056 199537994 chr1_245648659 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582042A>G;NG_007509.2:g.7568A>G;NM_001079821.2:c.-38-17A>G;NM_001127461.2:c.-55A>G;NM_001127462.2:c.-55A>G;NM_001243133.1:c.-61A>G;NM_004895.4:c.-55A>G;NM_183395.2:c.-55A>G 491238057 200402831 chr1_245648665 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582054C>G;NG_007509.2:g.7580C>G;NM_001079821.2:c.-38-5C>G;NM_001127461.2:c.-43C>G;NM_001127462.2:c.-43C>G;NM_001243133.1:c.-49C>G;NM_004895.4:c.-43C>G;NM_183395.2:c.-43C>G 491238058 201471268 chr1_245648677 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 112114302 73136263 NA19240_2008_12_16_266103_chr1_245648686 3.11e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 165635988 73136263 NA19240_36_chr1_245648686 3.11e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 219005609 73136263 pilot_1_YRI_815292_chr1_245648686 3.11e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 230995416 73136263 pilot_1_CEU_600045_chr1_245648686 3.11e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 482298346 73136263 HumanOmni2.5-4v1_B_SNP1-245648686-0_B_F_1621531157 3.11e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 483404531 73136263 HumanOmni2.5-4v1_D_kgp4698415-0_B_F_1817867497 3.11e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 489800471 73136263 20110521_exome_333959_chr1_247582063 3.11e-02 2012.02.15 2012.02.21 2009.02.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 491238059 73136263 chr1_245648686 3.11e-02 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247582063G>T;NG_007509.2:g.7589G>T;NM_001079821.2:c.-34G>T;NM_001127461.2:c.-34G>T;NM_001127462.2:c.-34G>T;NM_001243133.1:c.-40G>T;NM_004895.4:c.-34G>T;NM_183395.2:c.-34G>T 491619225 73136263 SNV-chr1-245648686 3.11e-02 2012.03.06 2012.03.12 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582157G>C;NG_007509.2:g.7683G>C;NM_001079821.2:c.61G>C;NM_001127461.2:c.61G>C;NM_001127462.2:c.61G>C;NM_001243133.1:c.55G>C;NM_004895.4:c.61G>C;NM_183395.2:c.61G>C;NP_001073289.1:p.Asp21His;NP_001120933.1:p.Asp21His;NP_001120934.1:p.Asp21His;NP_001230062.1:p.Asp19His;NP_004886.3:p.Asp21His;NP_899632.1:p.Asp21His 488705539 200154873 20110521_exome_29246_chr1_247582157 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247582171T>G;NG_007509.2:g.7697T>G;NM_001079821.2:c.75T>G;NM_001127461.2:c.75T>G;NM_001127462.2:c.75T>G;NM_001243133.1:c.69T>G;NM_004895.4:c.75T>G;NM_183395.2:c.75T>G;NP_001073289.1:p.Phe25Leu;NP_001120933.1:p.Phe25Leu;NP_001120934.1:p.Phe25Leu;NP_001230062.1:p.Phe23Leu;NP_004886.3:p.Phe25Leu;NP_899632.1:p.Phe25Leu 342040819 149709470 ESP2500-chr1-247582171 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 114548 NC_000001.10:g.247582213C>T;NG_007509.2:g.7739C>T;NM_001079821.2:c.117C>T;NM_001127461.2:c.117C>T;NM_001127462.2:c.117C>T;NM_001243133.1:c.111C>T;NM_004895.4:c.117C>T;NM_183395.2:c.117C>T;NP_001073289.1:p.Ile39=;NP_001120933.1:p.Ile39=;NP_001120934.1:p.Ile39=;NP_001230062.1:p.Ile37=;NP_004886.3:p.Ile39=;NP_899632.1:p.Ile39= 342040822 145314485 ESP2500-chr1-247582213 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247582214C>T;NG_007509.2:g.7740C>T;NM_001079821.2:c.118C>T;NM_001127461.2:c.118C>T;NM_001127462.2:c.118C>T;NM_001243133.1:c.112C>T;NM_004895.4:c.118C>T;NM_183395.2:c.118C>T;NP_001073289.1:p.Pro40Ser;NP_001120933.1:p.Pro40Ser;NP_001120934.1:p.Pro40Ser;NP_001230062.1:p.Pro38Ser;NP_004886.3:p.Pro40Ser;NP_899632.1:p.Pro40Ser 491238060 200729212 chr1_245648837 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582224G>A;NG_007509.2:g.7750G>A;NM_001079821.2:c.128G>A;NM_001127461.2:c.128G>A;NM_001127462.2:c.128G>A;NM_001243133.1:c.122G>A;NM_004895.4:c.128G>A;NM_183395.2:c.128G>A;NP_001073289.1:p.Arg43Lys;NP_001120933.1:p.Arg43Lys;NP_001120934.1:p.Arg43Lys;NP_001230062.1:p.Arg41Lys;NP_004886.3:p.Arg43Lys;NP_899632.1:p.Arg43Lys 491238061 201384608 chr1_245648847 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247582231G>A;NG_007509.2:g.7757G>A;NM_001079821.2:c.135G>A;NM_001127461.2:c.135G>A;NM_001127462.2:c.135G>A;NM_001243133.1:c.129G>A;NM_004895.4:c.135G>A;NM_183395.2:c.135G>A;NP_001073289.1:p.Gln45=;NP_001120933.1:p.Gln45=;NP_001120934.1:p.Gln45=;NP_001230062.1:p.Gln43=;NP_004886.3:p.Gln45=;NP_899632.1:p.Gln45= 488705541 201689287 20110521_exome_29247_chr1_247582231 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582249T>C;NG_007509.2:g.7775T>C;NM_001079821.2:c.153T>C;NM_001127461.2:c.153T>C;NM_001127462.2:c.153T>C;NM_001243133.1:c.147T>C;NM_004895.4:c.153T>C;NM_183395.2:c.153T>C;NP_001073289.1:p.His51=;NP_001120933.1:p.His51=;NP_001120934.1:p.His51=;NP_001230062.1:p.His49=;NP_004886.3:p.His51=;NP_899632.1:p.His51= 491238062 199687987 chr1_245648872 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582261C>A;NG_007509.2:g.7787C>A;NM_001079821.2:c.165C>A;NM_001127461.2:c.165C>A;NM_001127462.2:c.165C>A;NM_001243133.1:c.159C>A;NM_004895.4:c.165C>A;NM_183395.2:c.165C>A;NP_001073289.1:p.Ala55=;NP_001120933.1:p.Ala55=;NP_001120934.1:p.Ala55=;NP_001230062.1:p.Ala53=;NP_004886.3:p.Ala55=;NP_899632.1:p.Ala55= 491238063 200788923 chr1_245648884 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582263C>T;NG_007509.2:g.7789C>T;NM_001079821.2:c.167C>T;NM_001127461.2:c.167C>T;NM_001127462.2:c.167C>T;NM_001243133.1:c.161C>T;NM_004895.4:c.167C>T;NM_183395.2:c.167C>T;NP_001073289.1:p.Thr56Met;NP_001120933.1:p.Thr56Met;NP_001120934.1:p.Thr56Met;NP_001230062.1:p.Thr54Met;NP_004886.3:p.Thr56Met;NP_899632.1:p.Thr56Met 491238064 202057780 chr1_245648886 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582282T>C;NG_007509.2:g.7808T>C;NM_001079821.2:c.186T>C;NM_001127461.2:c.186T>C;NM_001127462.2:c.186T>C;NM_001243133.1:c.180T>C;NM_004895.4:c.186T>C;NM_183395.2:c.186T>C;NP_001073289.1:p.Asn62=;NP_001120933.1:p.Asn62=;NP_001120934.1:p.Asn62=;NP_001230062.1:p.Asn60=;NP_004886.3:p.Asn62=;NP_899632.1:p.Asn62= 491238065 199827519 chr1_245648905 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247582297G>A;NC_000001.10:g.247582297G>C;NG_007509.2:g.7823G>A;NG_007509.2:g.7823G>C;NM_001079821.2:c.201G>A;NM_001079821.2:c.201G>C;NM_001127461.2:c.201G>A;NM_001127461.2:c.201G>C;NM_001127462.2:c.201G>A;NM_001127462.2:c.201G>C;NM_001243133.1:c.195G>A;NM_001243133.1:c.195G>C;NM_004895.4:c.201G>A;NM_004895.4:c.201G>C;NM_183395.2:c.201G>A;NM_183395.2:c.201G>C;NP_001073289.1:p.Ala67=;NP_001120933.1:p.Ala67=;NP_001120934.1:p.Ala67=;NP_001230062.1:p.Ala65=;NP_004886.3:p.Ala67=;NP_899632.1:p.Ala67= 488705543 201205620 20110521_exome_29248_chr1_247582297 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582297G>A;NC_000001.10:g.247582297G>C;NG_007509.2:g.7823G>A;NG_007509.2:g.7823G>C;NM_001079821.2:c.201G>A;NM_001079821.2:c.201G>C;NM_001127461.2:c.201G>A;NM_001127461.2:c.201G>C;NM_001127462.2:c.201G>A;NM_001127462.2:c.201G>C;NM_001243133.1:c.195G>A;NM_001243133.1:c.195G>C;NM_004895.4:c.201G>A;NM_004895.4:c.201G>C;NM_183395.2:c.201G>A;NM_183395.2:c.201G>C;NP_001073289.1:p.Ala67=;NP_001120933.1:p.Ala67=;NP_001120934.1:p.Ala67=;NP_001230062.1:p.Ala65=;NP_004886.3:p.Ala67=;NP_899632.1:p.Ala67= 491238066 201205620 chr1_245648920 5.00e-04 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247582297G>A;NC_000001.10:g.247582297G>C;NG_007509.2:g.7823G>A;NG_007509.2:g.7823G>C;NM_001079821.2:c.201G>A;NM_001079821.2:c.201G>C;NM_001127461.2:c.201G>A;NM_001127461.2:c.201G>C;NM_001127462.2:c.201G>A;NM_001127462.2:c.201G>C;NM_001243133.1:c.195G>A;NM_001243133.1:c.195G>C;NM_004895.4:c.201G>A;NM_004895.4:c.201G>C;NM_183395.2:c.201G>A;NM_183395.2:c.201G>C;NP_001073289.1:p.Ala67=;NP_001120933.1:p.Ala67=;NP_001120934.1:p.Ala67=;NP_001230062.1:p.Ala65=;NP_004886.3:p.Ala67=;NP_899632.1:p.Ala67= 491619226 201205620 SNV-chr1-245648920 5.00e-04 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247582305T>C;NG_007509.2:g.7831T>C;NM_001079821.2:c.209T>C;NM_001127461.2:c.209T>C;NM_001127462.2:c.209T>C;NM_001243133.1:c.203T>C;NM_004895.4:c.209T>C;NM_183395.2:c.209T>C;NP_001073289.1:p.Met70Thr;NP_001120933.1:p.Met70Thr;NP_001120934.1:p.Met70Thr;NP_001230062.1:p.Met68Thr;NP_004886.3:p.Met70Thr;NP_899632.1:p.Met70Thr 342040823 147559626 ESP2500-chr1-247582305 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582305T>C;NG_007509.2:g.7831T>C;NM_001079821.2:c.209T>C;NM_001127461.2:c.209T>C;NM_001127462.2:c.209T>C;NM_001243133.1:c.203T>C;NM_004895.4:c.209T>C;NM_183395.2:c.209T>C;NP_001073289.1:p.Met70Thr;NP_001120933.1:p.Met70Thr;NP_001120934.1:p.Met70Thr;NP_001230062.1:p.Met68Thr;NP_004886.3:p.Met70Thr;NP_899632.1:p.Met70Thr 488705545 147559626 20110521_exome_29249_chr1_247582305 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582305T>C;NG_007509.2:g.7831T>C;NM_001079821.2:c.209T>C;NM_001127461.2:c.209T>C;NM_001127462.2:c.209T>C;NM_001243133.1:c.203T>C;NM_004895.4:c.209T>C;NM_183395.2:c.209T>C;NP_001073289.1:p.Met70Thr;NP_001120933.1:p.Met70Thr;NP_001120934.1:p.Met70Thr;NP_001230062.1:p.Met68Thr;NP_004886.3:p.Met70Thr;NP_899632.1:p.Met70Thr 491238067 147559626 chr1_245648928 5.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247582305T>C;NG_007509.2:g.7831T>C;NM_001079821.2:c.209T>C;NM_001127461.2:c.209T>C;NM_001127462.2:c.209T>C;NM_001243133.1:c.203T>C;NM_004895.4:c.209T>C;NM_183395.2:c.209T>C;NP_001073289.1:p.Met70Thr;NP_001120933.1:p.Met70Thr;NP_001120934.1:p.Met70Thr;NP_001230062.1:p.Met68Thr;NP_004886.3:p.Met70Thr;NP_899632.1:p.Met70Thr 491313827 147559626 nonsyn_30054_chr_1_247582305 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 BCM_SSAHASNP 114548 NC_000001.10:g.247582307G>A;NG_007509.2:g.7833G>A;NM_001079821.2:c.211G>A;NM_001127461.2:c.211G>A;NM_001127462.2:c.211G>A;NM_001243133.1:c.205G>A;NM_004895.4:c.211G>A;NM_183395.2:c.211G>A;NP_001073289.1:p.Ala71Thr;NP_001120933.1:p.Ala71Thr;NP_001120934.1:p.Ala71Thr;NP_001230062.1:p.Ala69Thr;NP_004886.3:p.Ala71Thr;NP_899632.1:p.Ala71Thr 9851763 6677787 chr1.NT_004536.14_1581859 2003.06.28 2003.10.10 2003.07.11 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247582309C>T;NG_007509.2:g.7835C>T;NM_001079821.2:c.213C>T;NM_001127461.2:c.213C>T;NM_001127462.2:c.213C>T;NM_001243133.1:c.207C>T;NM_004895.4:c.213C>T;NM_183395.2:c.213C>T;NP_001073289.1:p.Ala71=;NP_001120933.1:p.Ala71=;NP_001120934.1:p.Ala71=;NP_001230062.1:p.Ala69=;NP_004886.3:p.Ala71=;NP_899632.1:p.Ala71= 491238068 200082602 chr1_245648932 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 238590405 117287351 pilot_1_CHB+JPT_475482_chr1_245648933 4.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 482298349 117287351 HumanOmni2.5-4v1_B_SNP1-245648933-0_B_R_1650128952 4.60e-03 2012.02.01 2012.02.01 2010.07.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 482593787 117287351 HumanOmni2.5-4v1_D_kgp22730323-0_B_R_1860433481 4.60e-03 2012.02.01 2012.02.01 2010.07.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 489800473 117287351 20110521_exome_333960_chr1_247582310 4.60e-03 2012.02.15 2012.02.21 2010.07.15 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 491238069 117287351 chr1_245648933 4.60e-03 2012.03.02 2012.03.02 2010.07.15 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 491313828 117287351 nonsyn_30055_chr_1_247582310 4.60e-03 2012.03.05 2012.03.05 2010.07.15 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247582310G>A;NG_007509.2:g.7836G>A;NM_001079821.2:c.214G>A;NM_001127461.2:c.214G>A;NM_001127462.2:c.214G>A;NM_001243133.1:c.208G>A;NM_004895.4:c.214G>A;NM_183395.2:c.214G>A;NP_001073289.1:p.Val72Met;NP_001120933.1:p.Val72Met;NP_001120934.1:p.Val72Met;NP_001230062.1:p.Val70Met;NP_004886.3:p.Val72Met;NP_899632.1:p.Val72Met 491619227 117287351 SNV-chr1-245648933 4.60e-03 2012.03.06 2012.03.12 2010.07.15 2012.11.28 137 YSAMUELS 114548 NC_000001.9:g.245648937G>A NC_000001.10:g.247582314G>A;NG_007509.2:g.7840G>A;NM_001079821.2:c.218G>A;NM_001127461.2:c.218G>A;NM_001127462.2:c.218G>A;NM_001243133.1:c.212G>A;NM_004895.4:c.218G>A;NM_183395.2:c.218G>A;NP_001073289.1:p.Trp73Ter;NP_001120933.1:p.Trp73Ter;NP_001120934.1:p.Trp73Ter;NP_001230062.1:p.Trp71Ter;NP_004886.3:p.Trp73Ter;NP_899632.1:p.Trp73Ter 344938140 145217756 NC_000001.9:g.245648937G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247582321C>T;NG_007509.2:g.7847C>T;NM_001079821.2:c.225C>T;NM_001127461.2:c.225C>T;NM_001127462.2:c.225C>T;NM_001243133.1:c.219C>T;NM_004895.4:c.225C>T;NM_183395.2:c.225C>T;NP_001073289.1:p.Phe75=;NP_001120933.1:p.Phe75=;NP_001120934.1:p.Phe75=;NP_001230062.1:p.Phe73=;NP_004886.3:p.Phe75=;NP_899632.1:p.Phe75= 491238070 201980166 chr1_245648944 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247582324T>C;NG_007509.2:g.7850T>C;NM_001079821.2:c.228T>C;NM_001127461.2:c.228T>C;NM_001127462.2:c.228T>C;NM_001243133.1:c.222T>C;NM_004895.4:c.228T>C;NM_183395.2:c.228T>C;NP_001073289.1:p.Ala76=;NP_001120933.1:p.Ala76=;NP_001120934.1:p.Ala76=;NP_001230062.1:p.Ala74=;NP_004886.3:p.Ala76=;NP_899632.1:p.Ala76= 342040825 143033119 ESP2500-chr1-247582324 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247582326C>T;NG_007509.2:g.7852C>T;NM_001079821.2:c.230C>T;NM_001127461.2:c.230C>T;NM_001127462.2:c.230C>T;NM_001243133.1:c.224C>T;NM_004895.4:c.230C>T;NM_183395.2:c.230C>T;NP_001073289.1:p.Ala77Val;NP_001120933.1:p.Ala77Val;NP_001120934.1:p.Ala77Val;NP_001230062.1:p.Ala75Val;NP_004886.3:p.Ala77Val;NP_899632.1:p.Ala77Val 491238071 200288250 chr1_245648949 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247582327G>A;NG_007509.2:g.7853G>A;NM_001079821.2:c.231G>A;NM_001127461.2:c.231G>A;NM_001127462.2:c.231G>A;NM_001243133.1:c.225G>A;NM_004895.4:c.231G>A;NM_183395.2:c.231G>A;NP_001073289.1:p.Ala77=;NP_001120933.1:p.Ala77=;NP_001120934.1:p.Ala77=;NP_001230062.1:p.Ala75=;NP_004886.3:p.Ala77=;NP_899632.1:p.Ala77= 342040827 140219362 ESP2500-chr1-247582327 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582327G>A;NG_007509.2:g.7853G>A;NM_001079821.2:c.231G>A;NM_001127461.2:c.231G>A;NM_001127462.2:c.231G>A;NM_001243133.1:c.225G>A;NM_004895.4:c.231G>A;NM_183395.2:c.231G>A;NP_001073289.1:p.Ala77=;NP_001120933.1:p.Ala77=;NP_001120934.1:p.Ala77=;NP_001230062.1:p.Ala75=;NP_004886.3:p.Ala77=;NP_899632.1:p.Ala77= 491238072 140219362 chr1_245648950 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582336G>A;NG_007509.2:g.7862G>A;NM_001079821.2:c.240G>A;NM_001127461.2:c.240G>A;NM_001127462.2:c.240G>A;NM_001243133.1:c.234G>A;NM_004895.4:c.240G>A;NM_183395.2:c.240G>A;NP_001073289.1:p.Arg80=;NP_001120933.1:p.Arg80=;NP_001120934.1:p.Arg80=;NP_001230062.1:p.Arg78=;NP_004886.3:p.Arg80=;NP_899632.1:p.Arg80= 491238073 202232879 chr1_245648959 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247582342C>T;NG_007509.2:g.7868C>T;NM_001079821.2:c.246C>T;NM_001127461.2:c.246C>T;NM_001127462.2:c.246C>T;NM_001243133.1:c.240C>T;NM_004895.4:c.246C>T;NM_183395.2:c.246C>T;NP_001073289.1:p.Asp82=;NP_001120933.1:p.Asp82=;NP_001120934.1:p.Asp82=;NP_001230062.1:p.Asp80=;NP_004886.3:p.Asp82=;NP_899632.1:p.Asp82= 491238074 200214031 chr1_245648965 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247582342C>T;NG_007509.2:g.7868C>T;NM_001079821.2:c.246C>T;NM_001127461.2:c.246C>T;NM_001127462.2:c.246C>T;NM_001243133.1:c.240C>T;NM_004895.4:c.246C>T;NM_183395.2:c.246C>T;NP_001073289.1:p.Asp82=;NP_001120933.1:p.Asp82=;NP_001120934.1:p.Asp82=;NP_001230062.1:p.Asp80=;NP_004886.3:p.Asp82=;NP_899632.1:p.Asp82= 491619228 200214031 SNV-chr1-245648965 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247582371C>T;NG_007509.2:g.7897C>T;NM_001079821.2:c.275C>T;NM_001127461.2:c.275C>T;NM_001127462.2:c.275C>T;NM_001243133.1:c.269C>T;NM_004895.4:c.275C>T;NM_183395.2:c.275C>T;NP_001073289.1:p.Pro92Leu;NP_001120933.1:p.Pro92Leu;NP_001120934.1:p.Pro92Leu;NP_001230062.1:p.Pro90Leu;NP_004886.3:p.Pro92Leu;NP_899632.1:p.Pro92Leu 342040828 145774400 ESP2500-chr1-247582371 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247582400T>A;NG_007509.2:g.7926T>A;NM_001079821.2:c.283+21T>A;NM_001127461.2:c.283+21T>A;NM_001127462.2:c.283+21T>A;NM_001243133.1:c.277+21T>A;NM_004895.4:c.283+21T>A;NM_183395.2:c.283+21T>A 488705547 202125282 20110521_exome_29250_chr1_247582400 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582400T>A;NG_007509.2:g.7926T>A;NM_001079821.2:c.283+21T>A;NM_001127461.2:c.283+21T>A;NM_001127462.2:c.283+21T>A;NM_001243133.1:c.277+21T>A;NM_004895.4:c.283+21T>A;NM_183395.2:c.283+21T>A 491238075 202125282 chr1_245649023 5.00e-04 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582401A>T;NG_007509.2:g.7927A>T;NM_001079821.2:c.283+22A>T;NM_001127461.2:c.283+22A>T;NM_001127462.2:c.283+22A>T;NM_001243133.1:c.277+22A>T;NM_004895.4:c.283+22A>T;NM_183395.2:c.283+22A>T 491238076 199692916 chr1_245649024 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247582401A>T;NG_007509.2:g.7927A>T;NM_001079821.2:c.283+22A>T;NM_001127461.2:c.283+22A>T;NM_001127462.2:c.283+22A>T;NM_001243133.1:c.277+22A>T;NM_004895.4:c.283+22A>T;NM_183395.2:c.283+22A>T 491619229 199692916 SNV-chr1-245649024 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247582422C>T;NG_007509.2:g.7948C>T;NM_001079821.2:c.283+43C>T;NM_001127461.2:c.283+43C>T;NM_001127462.2:c.283+43C>T;NM_001243133.1:c.277+43C>T;NM_004895.4:c.283+43C>T;NM_183395.2:c.283+43C>T 491238077 200320843 chr1_245649045 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 DEVINE_LAB 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 100819410 67416368 INDEL_GP36_2008a_1599294_0 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 100819414 67416368 INDEL_GP36_2008a_1599294_1 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 100956899 67416368 INDEL_GP36_2008a_1195058_0 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 100956902 67416368 INDEL_GP36_2008a_1195058_1 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 294636716 67416368 DIP_74420_chr1_245649076 2011.01.21 2011.01.21 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 326164531 67416368 CEU_chr1_245649069_indel 2011.03.11 2011.04.01 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582447_247582448delTA;NG_007509.2:g.7973_7974delTA;NM_001079821.2:c.283+68_283+69delTA;NM_001127461.2:c.283+68_283+69delTA;NM_001127462.2:c.283+68_283+69delTA;NM_001243133.1:c.277+68_277+69delTA;NM_004895.4:c.283+68_283+69delTA;NM_183395.2:c.283+68_283+69delTA 326215321 67416368 YRI_chr1_245649069_indel 2011.03.11 2011.04.02 2009.02.05 2012.11.28 137 ABI 114548 NC_000001.10:g.247582448_247582449delAT;NG_007509.2:g.7974_7975delAT;NM_001079821.2:c.283+69_283+70delAT;NM_001127461.2:c.283+69_283+70delAT;NM_001127462.2:c.283+69_283+70delAT;NM_001243133.1:c.277+69_277+70delAT;NM_004895.4:c.283+69_283+70delAT;NM_183395.2:c.283+69_283+70delAT 41066014 35723895 hCV33568111 2005.07.17 2005.07.17 2006.03.15 2012.05.11 137 PJP 114548 NC_000001.10:g.247582448_247582449delAT;NG_007509.2:g.7974_7975delAT;NM_001079821.2:c.283+69_283+70delAT;NM_001127461.2:c.283+69_283+70delAT;NM_001127462.2:c.283+69_283+70delAT;NM_001243133.1:c.277+69_277+70delAT;NM_004895.4:c.283+69_283+70delAT;NM_183395.2:c.283+69_283+70delAT 294636717 35723895 DIP_74421_chr1_245649089 2011.01.21 2011.01.21 2006.03.15 2012.05.11 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247582462delA;NC_000001.10:g.247582462delAinsATA;NC_000001.10:g.247582462delAinsTT;NG_007509.2:g.7988delA;NG_007509.2:g.7988delAinsATA;NG_007509.2:g.7988delAinsTT;NM_001079821.2:c.283+83delA;NM_001079821.2:c.283+83delAinsATA;NM_001079821.2:c.283+83delAinsTT;NM_001127461.2:c.283+83delA;NM_001127461.2:c.283+83delAinsATA;NM_001127461.2:c.283+83delAinsTT;NM_001127462.2:c.283+83delA;NM_001127462.2:c.283+83delAinsATA;NM_001127462.2:c.283+83delAinsTT;NM_001243133.1:c.277+83delA;NM_001243133.1:c.277+83delAinsATA;NM_001243133.1:c.277+83delAinsTT;NM_004895.4:c.283+83delA;NM_004895.4:c.283+83delAinsATA;NM_004895.4:c.283+83delAinsTT;NM_183395.2:c.283+83delA;NM_183395.2:c.283+83delAinsATA;NM_183395.2:c.283+83delAinsTT 98585699 66778510 1104754115329 2008.04.01 2008.04.01 2009.02.04 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247582462delA;NC_000001.10:g.247582462delAinsATA;NC_000001.10:g.247582462delAinsTT;NG_007509.2:g.7988delA;NG_007509.2:g.7988delAinsATA;NG_007509.2:g.7988delAinsTT;NM_001079821.2:c.283+83delA;NM_001079821.2:c.283+83delAinsATA;NM_001079821.2:c.283+83delAinsTT;NM_001127461.2:c.283+83delA;NM_001127461.2:c.283+83delAinsATA;NM_001127461.2:c.283+83delAinsTT;NM_001127462.2:c.283+83delA;NM_001127462.2:c.283+83delAinsATA;NM_001127462.2:c.283+83delAinsTT;NM_001243133.1:c.277+83delA;NM_001243133.1:c.277+83delAinsATA;NM_001243133.1:c.277+83delAinsTT;NM_004895.4:c.283+83delA;NM_004895.4:c.283+83delAinsATA;NM_004895.4:c.283+83delAinsTT;NM_183395.2:c.283+83delA;NM_183395.2:c.283+83delAinsATA;NM_183395.2:c.283+83delAinsTT 100378984 66778510 INDEL_GP36_2008a_2546838_0 2008.05.16 2008.05.16 2009.02.04 2012.05.16 137 BUSHMAN 114548 NC_000001.10:g.247582462delA;NC_000001.10:g.247582462delAinsATA;NC_000001.10:g.247582462delAinsTT;NG_007509.2:g.7988delA;NG_007509.2:g.7988delAinsATA;NG_007509.2:g.7988delAinsTT;NM_001079821.2:c.283+83delA;NM_001079821.2:c.283+83delAinsATA;NM_001079821.2:c.283+83delAinsTT;NM_001127461.2:c.283+83delA;NM_001127461.2:c.283+83delAinsATA;NM_001127461.2:c.283+83delAinsTT;NM_001127462.2:c.283+83delA;NM_001127462.2:c.283+83delAinsATA;NM_001127462.2:c.283+83delAinsTT;NM_001243133.1:c.277+83delA;NM_001243133.1:c.277+83delAinsATA;NM_001243133.1:c.277+83delAinsTT;NM_004895.4:c.283+83delA;NM_004895.4:c.283+83delAinsATA;NM_004895.4:c.283+83delAinsTT;NM_183395.2:c.283+83delA;NM_183395.2:c.283+83delAinsATA;NM_183395.2:c.283+83delAinsTT 193163318 66778510 BUSHMAN-chr1-245649084-245649087 2010.02.16 2010.02.16 2009.02.04 2012.05.16 137 GMI 114548 NC_000001.10:g.247582462A>T;NG_007509.2:g.7988A>T;NM_001079821.2:c.283+83A>T;NM_001127461.2:c.283+83A>T;NM_001127462.2:c.283+83A>T;NM_001243133.1:c.277+83A>T;NM_004895.4:c.283+83A>T;NM_183395.2:c.283+83A>T 276310476 200926916 GMI_AK_SNP_630643 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_SNP 114548 NC_000001.10:g.247582464A>T;NG_007509.2:g.7990A>T;NM_001079821.2:c.283+85A>T;NM_001127461.2:c.283+85A>T;NM_001127462.2:c.283+85A>T;NM_001243133.1:c.277+85A>T;NM_004895.4:c.283+85A>T;NM_183395.2:c.283+85A>T 15387406 5782424 NT_004836.15_12245828 2003.11.14 2003.11.22 2003.04.21 2013.01.17 137 SSAHASNP 114548 NC_000001.10:g.247582464A>T;NG_007509.2:g.7990A>T;NM_001079821.2:c.283+85A>T;NM_001127461.2:c.283+85A>T;NM_001127462.2:c.283+85A>T;NM_001243133.1:c.277+85A>T;NM_004895.4:c.283+85A>T;NM_183395.2:c.283+85A>T 35289307 5782424 TA-079.chr1_243908505 2005.03.11 2003.04.21 2013.01.17 137 GMI 114548 NC_000001.10:g.247582464A>T;NG_007509.2:g.7990A>T;NM_001079821.2:c.283+85A>T;NM_001127461.2:c.283+85A>T;NM_001127462.2:c.283+85A>T;NM_001243133.1:c.277+85A>T;NM_004895.4:c.283+85A>T;NM_183395.2:c.283+85A>T 276310477 5782424 GMI_AK_SNP_630644 2010.12.16 2010.12.16 2003.04.21 2013.01.17 137 DEVINE_LAB 114548 NC_000001.10:g.247582465_247582467delTAT;NG_007509.2:g.7991_7993delTAT;NM_001079821.2:c.283+86_283+88delTAT;NM_001127461.2:c.283+86_283+88delTAT;NM_001127462.2:c.283+86_283+88delTAT;NM_001243133.1:c.277+86_277+88delTAT;NM_004895.4:c.283+86_283+88delTAT;NM_183395.2:c.283+86_283+88delTAT 99639823 71717909 INDEL_GP36_2007a_524328_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247582466A>T;NG_007509.2:g.7992A>T;NM_001079821.2:c.283+87A>T;NM_001127461.2:c.283+87A>T;NM_001127462.2:c.283+87A>T;NM_001243133.1:c.277+87A>T;NM_004895.4:c.283+87A>T;NM_183395.2:c.283+87A>T 7874910 4998423 DB_1_180033 2003.03.16 2003.10.10 2003.03.31 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247582466A>T;NG_007509.2:g.7992A>T;NM_001079821.2:c.283+87A>T;NM_001127461.2:c.283+87A>T;NM_001127462.2:c.283+87A>T;NM_001243133.1:c.277+87A>T;NM_004895.4:c.283+87A>T;NM_183395.2:c.283+87A>T 15387407 4998423 NT_004836.15_12245830 2003.11.14 2003.11.22 2003.03.31 2012.11.28 137 HGSV 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 79841782 58510577 Cor18507_DIV_20070510.chr1_243908506-243908509_1 2007.11.23 2007.11.23 2007.12.15 2012.05.16 137 HGSV 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 80938987 58510577 Cor12878_DIV_20070510.chr1_243908506-243908508_1 2007.11.27 2007.11.27 2007.12.15 2012.05.16 137 HGSV 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 80954147 58510577 Cor12878_DIV_20070510.chr1_243908506-243908508_2 2007.11.27 2007.11.27 2007.12.15 2012.05.16 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 95261581 58510577 1104685304923 2008.03.21 2008.12.02 2007.12.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 101804333 58510577 INDEL_GP36_2008a_2678281_0 2008.05.18 2008.05.18 2007.12.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 102124088 58510577 INDEL_GP36_2008a_938092_0 2008.05.18 2008.05.18 2007.12.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 102124090 58510577 INDEL_GP36_2008a_938092_1 2008.05.18 2008.05.18 2007.12.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247582466delA;NC_000001.10:g.247582466delAinsAT;NG_007509.2:g.7992delA;NG_007509.2:g.7992delAinsAT;NM_001079821.2:c.283+87delA;NM_001079821.2:c.283+87delAinsAT;NM_001127461.2:c.283+87delA;NM_001127461.2:c.283+87delAinsAT;NM_001127462.2:c.283+87delA;NM_001127462.2:c.283+87delAinsAT;NM_001243133.1:c.277+87delA;NM_001243133.1:c.277+87delAinsAT;NM_004895.4:c.283+87delA;NM_004895.4:c.283+87delAinsAT;NM_183395.2:c.283+87delA;NM_183395.2:c.283+87delAinsAT 102124094 58510577 INDEL_GP36_2008a_938092_2 2008.05.18 2008.05.18 2007.12.15 2012.05.16 137 GMI 114548 NC_000001.10:g.247582466A>T;NG_007509.2:g.7992A>T;NM_001079821.2:c.283+87A>T;NM_001127461.2:c.283+87A>T;NM_001127462.2:c.283+87A>T;NM_001243133.1:c.277+87A>T;NM_004895.4:c.283+87A>T;NM_183395.2:c.283+87A>T 276310478 4998423 GMI_AK_SNP_630645 2010.12.16 2010.12.16 2003.03.31 2012.11.28 137 PJP 114548 NC_000001.10:g.247582466A>T;NG_007509.2:g.7992A>T;NM_001079821.2:c.283+87A>T;NM_001127461.2:c.283+87A>T;NM_001127462.2:c.283+87A>T;NM_001243133.1:c.277+87A>T;NM_004895.4:c.283+87A>T;NM_183395.2:c.283+87A>T 290789421 4998423 SNP_295779_chr1_245649089 2011.01.21 2011.01.21 2003.03.31 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582466delA;NG_007509.2:g.7992delA;NM_001079821.2:c.283+87delA;NM_001127461.2:c.283+87delA;NM_001127462.2:c.283+87delA;NM_001243133.1:c.277+87delA;NM_004895.4:c.283+87delA;NM_183395.2:c.283+87delA 499190813 199523445 20110316_indels_chr1_247582465_247582465 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582535C>T;NG_007509.2:g.8061C>T;NM_001079821.2:c.283+156C>T;NM_001127461.2:c.283+156C>T;NM_001127462.2:c.283+156C>T;NM_001243133.1:c.277+156C>T;NM_004895.4:c.283+156C>T;NM_183395.2:c.283+156C>T 454808090 182767621 20101123_snps_975320_chr1_247582535 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247582549C>T;NG_007509.2:g.8075C>T;NM_001079821.2:c.283+170C>T;NM_001127461.2:c.283+170C>T;NM_001127462.2:c.283+170C>T;NM_001243133.1:c.277+170C>T;NM_004895.4:c.283+170C>T;NM_183395.2:c.283+170C>T 454808091 186723401 20101123_snps_975321_chr1_247582549 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247582576C>T;NG_007509.2:g.8102C>T;NM_001079821.2:c.283+197C>T;NM_001127461.2:c.283+197C>T;NM_001127462.2:c.283+197C>T;NM_001243133.1:c.277+197C>T;NM_004895.4:c.283+197C>T;NM_183395.2:c.283+197C>T 454808092 190008759 20101123_snps_975322_chr1_247582576 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 114548 NC_000001.10:g.247582614C>T;NG_007509.2:g.8140C>T;NM_001079821.2:c.283+235C>T;NM_001127461.2:c.283+235C>T;NM_001127462.2:c.283+235C>T;NM_001243133.1:c.277+235C>T;NM_004895.4:c.283+235C>T;NM_183395.2:c.283+235C>T 276310479 183356364 GMI_AK_SNP_630646 1.80e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582614C>T;NG_007509.2:g.8140C>T;NM_001079821.2:c.283+235C>T;NM_001127461.2:c.283+235C>T;NM_001127462.2:c.283+235C>T;NM_001243133.1:c.277+235C>T;NM_004895.4:c.283+235C>T;NM_183395.2:c.283+235C>T 454808093 183356364 20101123_snps_975323_chr1_247582614 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582619G>C;NG_007509.2:g.8145G>C;NM_001079821.2:c.283+240G>C;NM_001127461.2:c.283+240G>C;NM_001127462.2:c.283+240G>C;NM_001243133.1:c.277+240G>C;NM_004895.4:c.283+240G>C;NM_183395.2:c.283+240G>C 329363737 146216440 20100804_snps_1007273_chr1_247582619 2.11e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 114548 NC_000001.10:g.247582667G>T;NG_007509.2:g.8193G>T;NM_001079821.2:c.283+288G>T;NM_001127461.2:c.283+288G>T;NM_001127462.2:c.283+288G>T;NM_001243133.1:c.277+288G>T;NM_004895.4:c.283+288G>T;NM_183395.2:c.283+288G>T 78106184 56300916 Cor12878_SNV_20070510.chr1_243908708 2007.10.17 2007.10.17 2007.12.07 2011.07.08 137 GMI 114548 NC_000001.10:g.247582684C>T;NG_007509.2:g.8210C>T;NM_001079821.2:c.283+305C>T;NM_001127461.2:c.283+305C>T;NM_001127462.2:c.283+305C>T;NM_001243133.1:c.277+305C>T;NM_004895.4:c.283+305C>T;NM_183395.2:c.283+305C>T 276310480 202040124 GMI_AK_SNP_630647 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247582685G>A;NG_007509.2:g.8211G>A;NM_001079821.2:c.283+306G>A;NM_001127461.2:c.283+306G>A;NM_001127462.2:c.283+306G>A;NM_001243133.1:c.277+306G>A;NM_004895.4:c.283+306G>A;NM_183395.2:c.283+306G>A 454808094 188866183 20101123_snps_975324_chr1_247582685 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247582716C>T;NG_007509.2:g.8242C>T;NM_001079821.2:c.283+337C>T;NM_001127461.2:c.283+337C>T;NM_001127462.2:c.283+337C>T;NM_001243133.1:c.277+337C>T;NM_004895.4:c.283+337C>T;NM_183395.2:c.283+337C>T 454808095 193106042 20101123_snps_975325_chr1_247582716 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247582749G>A;NG_007509.2:g.8275G>A;NM_001079821.2:c.283+370G>A;NM_001127461.2:c.283+370G>A;NM_001127462.2:c.283+370G>A;NM_001243133.1:c.277+370G>A;NM_004895.4:c.283+370G>A;NM_183395.2:c.283+370G>A 329363738 139190726 20100804_snps_1007274_chr1_247582749 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 81096790 57801316 Cor18507_SNV_20070510.chr1_243908797 9.20e-02 2007.11.27 2007.11.27 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 112114315 57801316 NA19240_2008_12_16_266105_chr1_245649379 9.20e-02 2008.12.17 2008.12.17 2007.12.15 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 119287715 57801316 NA18507_000265582_NCBI36.1_chr1_245649379 9.20e-02 2009.01.22 2009.01.22 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 165635996 57801316 NA19240_36_chr1_245649379 9.20e-02 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 165961879 57801316 NA07022_36_chr1_245649379 9.20e-02 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 205520722 57801316 BCM_CMT_1011-239238 9.20e-02 2010.03.16 2010.03.16 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 219005610 57801316 pilot_1_YRI_815293_chr1_245649379 9.20e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 230995418 57801316 pilot_1_CEU_600047_chr1_245649379 9.20e-02 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247582756C>T;NG_007509.2:g.8282C>T;NM_001079821.2:c.283+377C>T;NM_001127461.2:c.283+377C>T;NM_001127462.2:c.283+377C>T;NM_001243133.1:c.277+377C>T;NM_004895.4:c.283+377C>T;NM_183395.2:c.283+377C>T 276310481 57801316 GMI_AK_SNP_630648 9.20e-02 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247582757G>A;NG_007509.2:g.8283G>A;NM_001079821.2:c.283+378G>A;NM_001127461.2:c.283+378G>A;NM_001127462.2:c.283+378G>A;NM_001243133.1:c.277+378G>A;NM_004895.4:c.283+378G>A;NM_183395.2:c.283+378G>A 238590406 118140968 pilot_1_CHB+JPT_475483_chr1_245649380 1.01e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247582826T>A;NG_007509.2:g.8352T>A;NM_001079821.2:c.283+447T>A;NM_001127461.2:c.283+447T>A;NM_001127462.2:c.283+447T>A;NM_001243133.1:c.277+447T>A;NM_004895.4:c.283+447T>A;NM_183395.2:c.283+447T>A 18286846 12139843 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12246190 2.11e-02 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247582826T>A;NG_007509.2:g.8352T>A;NM_001079821.2:c.283+447T>A;NM_001127461.2:c.283+447T>A;NM_001127462.2:c.283+447T>A;NM_001243133.1:c.277+447T>A;NM_004895.4:c.283+447T>A;NM_183395.2:c.283+447T>A 230995419 12139843 pilot_1_CEU_600048_chr1_245649449 2.11e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247582855C>T;NG_007509.2:g.8381C>T;NM_001079821.2:c.283+476C>T;NM_001127461.2:c.283+476C>T;NM_001127462.2:c.283+476C>T;NM_001243133.1:c.277+476C>T;NM_004895.4:c.283+476C>T;NM_183395.2:c.283+476C>T 329363739 142402252 20100804_snps_1007275_chr1_247582855 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 119287717 79796552 NA18507_000265583_NCBI36.1_chr1_245649633 8.33e-02 2009.01.22 2009.01.22 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 165961880 79796552 NA07022_36_chr1_245649633 8.33e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 205270924 79796552 BCM_CMT_1011-115215 8.33e-02 2010.03.15 2010.03.15 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 219005611 79796552 pilot_1_YRI_815294_chr1_245649633 8.33e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 230995420 79796552 pilot_1_CEU_600049_chr1_245649633 8.33e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 276310482 79796552 GMI_AK_SNP_630649 8.33e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 482288853 79796552 HumanOmni2.5-4v1_D_kgp211852-0_T_F_1821010590 8.33e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247583010A>G;NG_007509.2:g.8536A>G;NM_001079821.2:c.283+631A>G;NM_001127461.2:c.283+631A>G;NM_001127462.2:c.283+631A>G;NM_001243133.1:c.277+631A>G;NM_004895.4:c.283+631A>G;NM_183395.2:c.283+631A>G 482298352 79796552 HumanOmni2.5-4v1_B_SNP1-245649633-0_T_F_1621720543 8.33e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583021C>T;NG_007509.2:g.8547C>T;NM_001079821.2:c.283+642C>T;NM_001127461.2:c.283+642C>T;NM_001127462.2:c.283+642C>T;NM_001243133.1:c.277+642C>T;NM_004895.4:c.283+642C>T;NM_183395.2:c.283+642C>T 454808096 185176838 20101123_snps_975326_chr1_247583021 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247583022G>A;NG_007509.2:g.8548G>A;NM_001079821.2:c.283+643G>A;NM_001127461.2:c.283+643G>A;NM_001127462.2:c.283+643G>A;NM_001243133.1:c.277+643G>A;NM_004895.4:c.283+643G>A;NM_183395.2:c.283+643G>A 329363740 145933763 20100804_snps_1007276_chr1_247583022 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 114548 NC_000001.10:g.247583030C>A;NG_007509.2:g.8556C>A;NM_001079821.2:c.283+651C>A;NM_001127461.2:c.283+651C>A;NM_001127462.2:c.283+651C>A;NM_001243133.1:c.277+651C>A;NM_004895.4:c.283+651C>A;NM_183395.2:c.283+651C>A 41153974 35817441 hCV33568114 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247583030C>A;NG_007509.2:g.8556C>A;NM_001079821.2:c.283+651C>A;NM_001127461.2:c.283+651C>A;NM_001127462.2:c.283+651C>A;NM_001243133.1:c.277+651C>A;NM_004895.4:c.283+651C>A;NM_183395.2:c.283+651C>A 131774255 35817441 ENSSNP197666 2009.05.11 2009.10.14 2006.03.15 2011.09.09 137 ABI 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 41079375 36008445 hCV26646003 3.53e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 78206603 36008445 Cor12878_SNV_20070510.chr1_243909166 3.53e-01 2007.10.18 2007.10.18 2006.03.15 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 88051212 36008445 JWB-0217774 3.53e-01 2008.02.27 2008.02.27 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 98020126 36008445 1103675395104 3.53e-01 2008.03.30 2008.03.30 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 109136427 36008445 CEU.trio.12.15.2008_293408_chr1_245649748 3.53e-01 2008.12.16 2008.12.16 2006.03.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 138194232 36008445 ENSSNP11747534 3.53e-01 2009.05.17 2009.05.17 2006.03.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 138997971 36008445 ENSSNP197667 3.53e-01 2009.05.18 2009.10.16 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 167597126 36008445 NA20431_36_chr1_245649748 3.53e-01 2009.09.30 2009.09.30 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 219005612 36008445 pilot_1_YRI_815295_chr1_245649748 3.53e-01 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 230995421 36008445 pilot_1_CEU_600050_chr1_245649748 3.53e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 238590407 36008445 pilot_1_CHB+JPT_475484_chr1_245649748 3.53e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 BL 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 253948919 36008445 SNP242639_1_245649748 3.53e-01 2010.08.19 2010.08.19 2006.03.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 276310483 36008445 GMI_AK_SNP_630650 3.53e-01 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 PJP 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 290789422 36008445 SNP_295780_chr1_245649748 3.53e-01 2011.01.21 2011.01.21 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 482298355 36008445 HumanOmni2.5-4v1_B_SNP1-245649748-0_T_F_1612713741 3.53e-01 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247583125G>C;NG_007509.2:g.8651G>C;NM_001079821.2:c.283+746G>C;NM_001127461.2:c.283+746G>C;NM_001127462.2:c.283+746G>C;NM_001243133.1:c.277+746G>C;NM_004895.4:c.283+746G>C;NM_183395.2:c.283+746G>C 483292562 36008445 HumanOmni2.5-4v1_D_kgp4091559-0_B_F_1817556332 3.53e-01 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 11343224 7512998 chr1.NT_004536.14_1582773 1.36e-01 2003.07.03 2008.03.31 2003.07.11 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 19104924 7512998 CSHL-HuDD-200402.chr1.NT_004836.15_12246585 1.36e-01 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 20547854 7512998 WGSA-200403-chr1.chr1.NT_004836.15_12246585 1.36e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ABI 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 41303291 7512998 hCV26646004 1.36e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 AFFY 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 76787521 7512998 AFFY_6_1M_SNP_A-8649130 1.36e-01 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 78471880 7512998 Cor12878_SNV_20070510.chr1_243909262 1.36e-01 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 84352387 7512998 Cor19240_SNV_20070510.chr1_243909262 1.36e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 85618938 7512998 Cor19129_SNV_20070510.chr1_243909262 1.36e-01 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 85781739 7512998 Cor18517_SNV_20070510.chr1_243909262 1.36e-01 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 88051214 7512998 JWB-0217775 1.36e-01 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 98020127 7512998 1103675395105 1.36e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 104955566 7512998 KHS1347889 1.36e-01 2008.07.10 2008.07.10 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 106647967 7512998 BGI_rs7512998 1.36e-01 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 109136431 7512998 CEU.trio.12.15.2008_293409_chr1_245649844 1.36e-01 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 112114326 7512998 NA19240_2008_12_16_266106_chr1_245649844 1.36e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 119287719 7512998 NA18507_000265584_NCBI36.1_chr1_245649844 1.36e-01 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 138194233 7512998 ENSSNP11747535 1.36e-01 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 138997968 7512998 ENSSNP197668 1.36e-01 2009.05.18 2010.03.07 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 156563796 7512998 GMI_SNP_72082574 1.36e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 165636003 7512998 NA19240_36_chr1_245649844 1.36e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 165961885 7512998 NA07022_36_chr1_245649844 1.36e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 167597128 7512998 NA20431_36_chr1_245649844 1.36e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 199903776 7512998 BUSHMAN-chr1-245649843 1.36e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 205083326 7512998 BCM_CMT_1011-22325 1.36e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 219005613 7512998 pilot_1_YRI_815296_chr1_245649844 1.36e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 230995422 7512998 pilot_1_CEU_600051_chr1_245649844 1.36e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 238590408 7512998 pilot_1_CHB+JPT_475485_chr1_245649844 1.36e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 253948922 7512998 SNP242640_1_245649844 1.36e-01 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 276310484 7512998 GMI_AK_SNP_630651 1.36e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247583221C>T;NG_007509.2:g.8747C>T;NM_001079821.2:c.283+842C>T;NM_001127461.2:c.283+842C>T;NM_001127462.2:c.283+842C>T;NM_001243133.1:c.277+842C>T;NM_004895.4:c.283+842C>T;NM_183395.2:c.283+842C>T 290789423 7512998 SNP_295781_chr1_245649844 1.36e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583259C>T;NG_007509.2:g.8785C>T;NM_001079821.2:c.283+880C>T;NM_001127461.2:c.283+880C>T;NM_001127462.2:c.283+880C>T;NM_001243133.1:c.277+880C>T;NM_004895.4:c.283+880C>T;NM_183395.2:c.283+880C>T 329363741 148700607 20100804_snps_1007277_chr1_247583259 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247583321T>C;NG_007509.2:g.8847T>C;NM_001079821.2:c.283+942T>C;NM_001127461.2:c.283+942T>C;NM_001127462.2:c.283+942T>C;NM_001243133.1:c.277+942T>C;NM_004895.4:c.283+942T>C;NM_183395.2:c.283+942T>C 219005614 77456787 pilot_1_YRI_815297_chr1_245649944 4.60e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247583335C>T;NG_007509.2:g.8861C>T;NM_001079821.2:c.283+956C>T;NM_001127461.2:c.283+956C>T;NM_001127462.2:c.283+956C>T;NM_001243133.1:c.277+956C>T;NM_004895.4:c.283+956C>T;NM_183395.2:c.283+956C>T 454808097 188491596 20101123_snps_975327_chr1_247583335 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247583393T>C;NG_007509.2:g.8919T>C;NM_001079821.2:c.283+1014T>C;NM_001127461.2:c.283+1014T>C;NM_001127462.2:c.283+1014T>C;NM_001243133.1:c.277+1014T>C;NM_004895.4:c.283+1014T>C;NM_183395.2:c.283+1014T>C 454808098 191618527 20101123_snps_975328_chr1_247583393 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247583400_247583401insC;NG_007509.2:g.8926_8927insC;NM_001079821.2:c.283+1021_283+1022insC;NM_001127461.2:c.283+1021_283+1022insC;NM_001127462.2:c.283+1021_283+1022insC;NM_001243133.1:c.277+1021_277+1022insC;NM_004895.4:c.283+1021_283+1022insC;NM_183395.2:c.283+1021_283+1022insC 41115316 34265840 hCV33568115 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247583450C>T;NG_007509.2:g.8976C>T;NM_001079821.2:c.283+1071C>T;NM_001127461.2:c.283+1071C>T;NM_001127462.2:c.283+1071C>T;NM_001243133.1:c.277+1071C>T;NM_004895.4:c.283+1071C>T;NM_183395.2:c.283+1071C>T 454808099 184141530 20101123_snps_975329_chr1_247583450 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 11393116 7537426 chr1.NT_004536.14_1583004 1.31e-01 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 102842943 7537426 BGI_rs7537426 1.31e-01 2008.06.04 2009.06.17 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 156563801 7537426 GMI_SNP_71331531 1.31e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 165636012 7537426 NA19240_36_chr1_245650075 1.31e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 199903780 7537426 BUSHMAN-chr1-245650074 1.31e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 205360372 7537426 BCM_CMT_1011-159692 1.31e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 210793785 7537426 YRI.trio.3.2010_117435_chr1_245650075 1.31e-01 2010.03.29 2010.03.29 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 219005615 7537426 pilot_1_YRI_815298_chr1_245650075 1.31e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 230995423 7537426 pilot_1_CEU_600052_chr1_245650075 1.31e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 238590409 7537426 pilot_1_CHB+JPT_475486_chr1_245650075 1.31e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247583452G>A;NG_007509.2:g.8978G>A;NM_001079821.2:c.283+1073G>A;NM_001127461.2:c.283+1073G>A;NM_001127462.2:c.283+1073G>A;NM_001243133.1:c.277+1073G>A;NM_004895.4:c.283+1073G>A;NM_183395.2:c.283+1073G>A 276310485 7537426 GMI_AK_SNP_630652 1.31e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583594T>C;NG_007509.2:g.9120T>C;NM_001079821.2:c.283+1215T>C;NM_001127461.2:c.283+1215T>C;NM_001127462.2:c.283+1215T>C;NM_001243133.1:c.277+1215T>C;NM_004895.4:c.283+1215T>C;NM_183395.2:c.283+1215T>C 85953351 56661556 Cor18517_SNV_20070510.chr1_243909635 2007.12.10 2007.12.10 2007.12.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247583617C>T;NG_007509.2:g.9143C>T;NM_001079821.2:c.283+1238C>T;NM_001127461.2:c.283+1238C>T;NM_001127462.2:c.283+1238C>T;NM_001243133.1:c.277+1238C>T;NM_004895.4:c.283+1238C>T;NM_183395.2:c.283+1238C>T 454808100 188151977 20101123_snps_975330_chr1_247583617 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247583623A>C;NG_007509.2:g.9149A>C;NM_001079821.2:c.283+1244A>C;NM_001127461.2:c.283+1244A>C;NM_001127462.2:c.283+1244A>C;NM_001243133.1:c.277+1244A>C;NM_004895.4:c.283+1244A>C;NM_183395.2:c.283+1244A>C 454808101 180690096 20101123_snps_975331_chr1_247583623 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247583627A>G;NG_007509.2:g.9153A>G;NM_001079821.2:c.283+1248A>G;NM_001127461.2:c.283+1248A>G;NM_001127462.2:c.283+1248A>G;NM_001243133.1:c.277+1248A>G;NM_004895.4:c.283+1248A>G;NM_183395.2:c.283+1248A>G 18118974 12047222 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12246991 8.20e-03 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583627A>G;NG_007509.2:g.9153A>G;NM_001079821.2:c.283+1248A>G;NM_001127461.2:c.283+1248A>G;NM_001127462.2:c.283+1248A>G;NM_001243133.1:c.277+1248A>G;NM_004895.4:c.283+1248A>G;NM_183395.2:c.283+1248A>G 329363742 12047222 20100804_snps_1007278_chr1_247583627 8.20e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247583631G>C;NG_007509.2:g.9157G>C;NM_001079821.2:c.283+1252G>C;NM_001127461.2:c.283+1252G>C;NM_001127462.2:c.283+1252G>C;NM_001243133.1:c.277+1252G>C;NM_004895.4:c.283+1252G>C;NM_183395.2:c.283+1252G>C 199903784 113561330 BUSHMAN-chr1-245650253 8.70e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583631G>C;NG_007509.2:g.9157G>C;NM_001079821.2:c.283+1252G>C;NM_001127461.2:c.283+1252G>C;NM_001127462.2:c.283+1252G>C;NM_001243133.1:c.277+1252G>C;NM_004895.4:c.283+1252G>C;NM_183395.2:c.283+1252G>C 219005616 113561330 pilot_1_YRI_815299_chr1_245650254 8.70e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 18106998 10925015 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12247041 3.36e-01 2004.02.20 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 18281592 10925015 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12247041 3.36e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 20571182 10925015 WGSA-200403-chr1.chr1.NT_004836.15_12247041 3.36e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 41182993 10925015 hCV26646005 3.36e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 68800561 10925015 PGP05973773 3.36e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 88051216 10925015 JWB-0217776 3.36e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 98020128 10925015 1103675395106 3.36e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 109136435 10925015 CEU.trio.12.15.2008_293410_chr1_245650300 3.36e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 138194234 10925015 ENSSNP11747536 3.36e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 138997965 10925015 ENSSNP197669 3.36e-01 2009.05.18 2009.10.16 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 167597130 10925015 NA20431_36_chr1_245650300 3.36e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 230995424 10925015 pilot_1_CEU_600053_chr1_245650300 3.36e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 238590410 10925015 pilot_1_CHB+JPT_475487_chr1_245650300 3.36e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 253948924 10925015 SNP242641_1_245650300 3.36e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 276310486 10925015 GMI_AK_SNP_630653 3.36e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247583677G>C;NG_007509.2:g.9203G>C;NM_001079821.2:c.283+1298G>C;NM_001127461.2:c.283+1298G>C;NM_001127462.2:c.283+1298G>C;NM_001243133.1:c.277+1298G>C;NM_004895.4:c.283+1298G>C;NM_183395.2:c.283+1298G>C 290789424 10925015 SNP_295782_chr1_245650300 3.36e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247583714delT;NG_007509.2:g.9240delT;NM_001079821.2:c.283+1335delT;NM_001127461.2:c.283+1335delT;NM_001127462.2:c.283+1335delT;NM_001243133.1:c.277+1335delT;NM_004895.4:c.283+1335delT;NM_183395.2:c.283+1335delT 82682980 58853245 Cor19240_DIV_20070510.chr1_243909766-243909768_1 2007.12.03 2007.12.03 2007.12.15 2011.07.08 137 HGSV 114548 NC_000001.10:g.247583714delT;NG_007509.2:g.9240delT;NM_001079821.2:c.283+1335delT;NM_001127461.2:c.283+1335delT;NM_001127462.2:c.283+1335delT;NM_001243133.1:c.277+1335delT;NM_004895.4:c.283+1335delT;NM_183395.2:c.283+1335delT 83003666 58853245 Cor19240_DIV_20070510.chr1_243909766-243909768_2 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247583840A>T;NG_007509.2:g.9366A>T;NM_001079821.2:c.283+1461A>T;NM_001127461.2:c.283+1461A>T;NM_001127462.2:c.283+1461A>T;NM_001243133.1:c.277+1461A>T;NM_004895.4:c.283+1461A>T;NM_183395.2:c.283+1461A>T 454808102 183655633 20101123_snps_975332_chr1_247583840 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247583873G>C;NG_007509.2:g.9399G>C;NM_001079821.2:c.283+1494G>C;NM_001127461.2:c.283+1494G>C;NM_001127462.2:c.283+1494G>C;NM_001243133.1:c.277+1494G>C;NM_004895.4:c.283+1494G>C;NM_183395.2:c.283+1494G>C 6810137 4925649 NT_031730.6_372093 2003.02.14 2003.10.10 2003.02.20 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247583876G>A;NG_007509.2:g.9402G>A;NM_001079821.2:c.283+1497G>A;NM_001127461.2:c.283+1497G>A;NM_001127462.2:c.283+1497G>A;NM_001243133.1:c.277+1497G>A;NM_004895.4:c.283+1497G>A;NM_183395.2:c.283+1497G>A 329363743 151215251 20100804_snps_1007279_chr1_247583876 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247583911C>T;NG_007509.2:g.9437C>T;NM_001079821.2:c.283+1532C>T;NM_001127461.2:c.283+1532C>T;NM_001127462.2:c.283+1532C>T;NM_001243133.1:c.277+1532C>T;NM_004895.4:c.283+1532C>T;NM_183395.2:c.283+1532C>T 329363744 139147400 20100804_snps_1007280_chr1_247583911 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247583966C>G;NG_007509.2:g.9492C>G;NM_001079821.2:c.283+1587C>G;NM_001127461.2:c.283+1587C>G;NM_001127462.2:c.283+1587C>G;NM_001243133.1:c.277+1587C>G;NM_004895.4:c.283+1587C>G;NM_183395.2:c.283+1587C>G 454808103 190490832 20101123_snps_975333_chr1_247583966 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247584011C>T;NG_007509.2:g.9537C>T;NM_001079821.2:c.283+1632C>T;NM_001127461.2:c.283+1632C>T;NM_001127462.2:c.283+1632C>T;NM_001243133.1:c.277+1632C>T;NM_004895.4:c.283+1632C>T;NM_183395.2:c.283+1632C>T 329363745 145191931 20100804_snps_1007281_chr1_247584011 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247584019delA;NG_007509.2:g.9545delA;NM_001079821.2:c.283+1640delA;NM_001127461.2:c.283+1640delA;NM_001127462.2:c.283+1640delA;NM_001243133.1:c.277+1640delA;NM_004895.4:c.283+1640delA;NM_183395.2:c.283+1640delA 8040678 5782425 INDEL_GP31_100007 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 ABI 114548 NC_000001.10:g.247584019delA;NG_007509.2:g.9545delA;NM_001079821.2:c.283+1640delA;NM_001127461.2:c.283+1640delA;NM_001127462.2:c.283+1640delA;NM_001243133.1:c.277+1640delA;NM_004895.4:c.283+1640delA;NM_183395.2:c.283+1640delA 41255909 5782425 hCV33568117 2005.07.17 2005.07.17 2003.04.21 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247584057T>C;NG_007509.2:g.9583T>C;NM_001079821.2:c.283+1678T>C;NM_001127461.2:c.283+1678T>C;NM_001127462.2:c.283+1678T>C;NM_001243133.1:c.277+1678T>C;NM_004895.4:c.283+1678T>C;NM_183395.2:c.283+1678T>C 35286651 28545391 TA-079.chr1_243910098 2005.03.11 2005.05.24 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247584057T>C;NG_007509.2:g.9583T>C;NM_001079821.2:c.283+1678T>C;NM_001127461.2:c.283+1678T>C;NM_001127462.2:c.283+1678T>C;NM_001243133.1:c.277+1678T>C;NM_004895.4:c.283+1678T>C;NM_183395.2:c.283+1678T>C 88051218 28545391 JWB-0217777 2008.02.27 2008.02.27 2005.05.24 2012.11.28 137 BGI 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 104673303 72504922 BGI_rs11375536 1.30e-01 2008.06.09 2008.06.09 2009.02.14 2012.11.28 137 BGI 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 105450056 72504922 BGI_YHIndelrs11375536 1.30e-01 2008.09.10 2009.06.16 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 154622633 72504922 GMI_INDEL-13076 1.30e-01 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 193163320 72504922 BUSHMAN-chr1-245650680-245650680 1.30e-01 2010.02.16 2010.02.16 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247584057T>C;NG_007509.2:g.9583T>C;NM_001079821.2:c.283+1678T>C;NM_001127461.2:c.283+1678T>C;NM_001127462.2:c.283+1678T>C;NM_001243133.1:c.277+1678T>C;NM_004895.4:c.283+1678T>C;NM_183395.2:c.283+1678T>C 205487129 28545391 BCM_CMT_1011-222664 2010.03.16 2010.03.16 2005.05.24 2012.11.28 137 BL 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 255981150 72504922 SNP15677_1_245650680 1.30e-01 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247584057T>C;NG_007509.2:g.9583T>C;NM_001079821.2:c.283+1678T>C;NM_001127461.2:c.283+1678T>C;NM_001127462.2:c.283+1678T>C;NM_001243133.1:c.277+1678T>C;NM_004895.4:c.283+1678T>C;NM_183395.2:c.283+1678T>C 276310487 28545391 GMI_AK_SNP_630654 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 287692037 72504922 GMI_NA10851_INDEL_24665 1.30e-01 2010.12.18 2010.12.20 2009.02.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 288119523 72504922 GMI_AK_INDEL_90627 1.30e-01 2010.12.21 2011.12.23 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 326158592 72504922 JPTCHB_chr1_245650680_indel 1.30e-01 2011.03.11 2011.04.02 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 326164533 72504922 CEU_chr1_245650680_indel 1.30e-01 2011.03.11 2011.04.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 326215324 72504922 YRI_chr1_245650680_indel 1.30e-01 2011.03.11 2011.04.02 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584057_247584058insC;NG_007509.2:g.9583_9584insC;NM_001079821.2:c.283+1678_283+1679insC;NM_001127461.2:c.283+1678_283+1679insC;NM_001127462.2:c.283+1678_283+1679insC;NM_001243133.1:c.277+1678_277+1679insC;NM_004895.4:c.283+1678_283+1679insC;NM_183395.2:c.283+1678_283+1679insC 499190817 72504922 20110316_indels_chr1_247584057_247584058 1.30e-01 2012.03.19 2012.03.19 2009.02.14 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247584058_247584059insC;NC_000001.10:g.247584058_247584059insT;NG_007509.2:g.9584_9585insC;NG_007509.2:g.9584_9585insT;NM_001079821.2:c.283+1679_283+1680insC;NM_001079821.2:c.283+1679_283+1680insT;NM_001127461.2:c.283+1679_283+1680insC;NM_001127461.2:c.283+1679_283+1680insT;NM_001127462.2:c.283+1679_283+1680insC;NM_001127462.2:c.283+1679_283+1680insT;NM_001243133.1:c.277+1679_277+1680insC;NM_001243133.1:c.277+1679_277+1680insT;NM_004895.4:c.283+1679_283+1680insC;NM_004895.4:c.283+1679_283+1680insT;NM_183395.2:c.283+1679_283+1680insC;NM_183395.2:c.283+1679_283+1680insT 18289020 11375536 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12247421 2004.02.20 2004.03.04 2004.02.28 2012.12.05 137 DEVINE_LAB 114548 NC_000001.10:g.247584058_247584059insC;NG_007509.2:g.9584_9585insC;NM_001079821.2:c.283+1679_283+1680insC;NM_001127461.2:c.283+1679_283+1680insC;NM_001127462.2:c.283+1679_283+1680insC;NM_001243133.1:c.277+1679_277+1680insC;NM_004895.4:c.283+1679_283+1680insC;NM_183395.2:c.283+1679_283+1680insC 100020079 66486919 INDEL_GP36_2007a_899508_0 2008.05.16 2008.05.16 2009.02.03 2012.12.04 137 DEVINE_LAB 114548 NC_000001.10:g.247584058_247584059insC;NG_007509.2:g.9584_9585insC;NM_001079821.2:c.283+1679_283+1680insC;NM_001127461.2:c.283+1679_283+1680insC;NM_001127462.2:c.283+1679_283+1680insC;NM_001243133.1:c.277+1679_277+1680insC;NM_004895.4:c.283+1679_283+1680insC;NM_183395.2:c.283+1679_283+1680insC 102413175 66486919 INDEL_GP36_2008a_899508_1 2008.05.18 2008.05.18 2009.02.03 2012.12.04 137 DEVINE_LAB 114548 NC_000001.10:g.247584058_247584059insC;NG_007509.2:g.9584_9585insC;NM_001079821.2:c.283+1679_283+1680insC;NM_001127461.2:c.283+1679_283+1680insC;NM_001127462.2:c.283+1679_283+1680insC;NM_001243133.1:c.277+1679_277+1680insC;NM_004895.4:c.283+1679_283+1680insC;NM_183395.2:c.283+1679_283+1680insC 102413178 66486919 INDEL_GP36_2008a_899508_2 2008.05.18 2008.05.18 2009.02.03 2012.12.04 137 DEVINE_LAB 114548 NC_000001.10:g.247584058_247584059insC;NG_007509.2:g.9584_9585insC;NM_001079821.2:c.283+1679_283+1680insC;NM_001127461.2:c.283+1679_283+1680insC;NM_001127462.2:c.283+1679_283+1680insC;NM_001243133.1:c.277+1679_277+1680insC;NM_004895.4:c.283+1679_283+1680insC;NM_183395.2:c.283+1679_283+1680insC 102413181 66486919 INDEL_GP36_2008a_899508_3 2008.05.18 2008.05.18 2009.02.03 2012.12.04 137 ILLUMINA 114548 NC_000001.10:g.247584060C>T;NG_007509.2:g.9586C>T;NM_001079821.2:c.283+1681C>T;NM_001127461.2:c.283+1681C>T;NM_001127462.2:c.283+1681C>T;NM_001243133.1:c.277+1681C>T;NM_004895.4:c.283+1681C>T;NM_183395.2:c.283+1681C>T 482298358 200331620 HumanOmni2.5-4v1_B_SNP1-245650683-0_T_R_1633578560 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584060C>T;NG_007509.2:g.9586C>T;NM_001079821.2:c.283+1681C>T;NM_001127461.2:c.283+1681C>T;NM_001127462.2:c.283+1681C>T;NM_001243133.1:c.277+1681C>T;NM_004895.4:c.283+1681C>T;NM_183395.2:c.283+1681C>T 482839267 200331620 HumanOmni2.5-4v1_D_kgp22812526-0_T_R_1860376192 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584070C>A;NG_007509.2:g.9596C>A;NM_001079821.2:c.283+1691C>A;NM_001127461.2:c.283+1691C>A;NM_001127462.2:c.283+1691C>A;NM_001243133.1:c.277+1691C>A;NM_004895.4:c.283+1691C>A;NM_183395.2:c.283+1691C>A 329363746 147913705 20100804_snps_1007282_chr1_247584070 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247584074C>T;NG_007509.2:g.9600C>T;NM_001079821.2:c.283+1695C>T;NM_001127461.2:c.283+1695C>T;NM_001127462.2:c.283+1695C>T;NM_001243133.1:c.277+1695C>T;NM_004895.4:c.283+1695C>T;NM_183395.2:c.283+1695C>T 329363747 141642211 20100804_snps_1007283_chr1_247584074 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 6810138 4925650 NT_031730.6_372295 3.57e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 20574342 4925650 WGSA-200403-chr1.chr1.NT_004836.15_12247439 3.57e-01 2004.03.18 2006.10.26 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 67399698 4925650 HumanHap550v1.1_rs4925650 3.57e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 67769576 4925650 HumanHap650Yv1.0_rs4925650 3.57e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 68240658 4925650 HumanHap250Sv1.0_rs4925650 3.57e-01 2006.12.06 2006.12.07 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 70836561 4925650 HumanHap550v3.0__rs4925650 3.57e-01 2007.04.20 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 71419874 4925650 HumanHap650Yv3.0_rs4925650 3.57e-01 2007.04.23 2007.04.23 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 74933109 4925650 ILMN_Human_1M_rs4925650 3.57e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 76556199 4925650 AFFY_6_1M_SNP_A-8417233 3.57e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 84400500 4925650 KHS702235 3.57e-01 2007.12.07 2007.12.07 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 98020129 4925650 1103675395108 3.57e-01 2008.03.30 2008.03.30 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 109136440 4925650 CEU.trio.12.15.2008_293411_chr1_245650698 3.57e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 138997962 4925650 ENSSNP197670 3.57e-01 2009.05.18 2009.10.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 154329500 4925650 Human610_Quadv1_B_rs4925650-128_B_R_1502226872 3.57e-01 2009.06.20 2009.06.20 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 159506023 4925650 Human660W-Quad_v1_A_rs4925650-128_B_R_1502226872 3.57e-01 2009.07.07 2009.07.07 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 160728724 4925650 HumanOmni1-Quad_v1-0_B_rs4925650-128_B_R_1502226872 3.57e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 167597132 4925650 NA20431_36_chr1_245650698 3.57e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 173877306 4925650 Human1M-Duov3_B_rs4925650-128_B_R_1502226872 3.57e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 219005617 4925650 pilot_1_YRI_815300_chr1_245650698 3.57e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 230995427 4925650 pilot_1_CEU_600056_chr1_245650698 3.57e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 238590411 4925650 pilot_1_CHB+JPT_475488_chr1_245650698 3.57e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 244302028 4925650 CVDSNP55v1_A_rs4925650 3.57e-01 2010.06.10 2010.06.10 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 253948927 4925650 SNP242642_1_245650698 3.57e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 276310488 4925650 GMI_AK_SNP_630655 3.57e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 290789425 4925650 SNP_295783_chr1_245650698 3.57e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 481103106 4925650 HumanOmni2.5-4v1_B_rs4925650-128_B_R_1690739228 3.57e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 481125103 4925650 HumanOmniExpress-12v1_C_rs4925650-131_B_R_1857729494 3.57e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 482115818 4925650 HumanOmni1-Quad_v1-0_C_rs4925650-131_B_R_1865307419 3.57e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584075G>A;NG_007509.2:g.9601G>A;NM_001079821.2:c.283+1696G>A;NM_001127461.2:c.283+1696G>A;NM_001127462.2:c.283+1696G>A;NM_001243133.1:c.277+1696G>A;NM_004895.4:c.283+1696G>A;NM_183395.2:c.283+1696G>A 485346630 4925650 HumanOmni2.5-4v1_D_rs4925650-131_B_R_1857729494 3.57e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247584152delC;NG_007509.2:g.9678delC;NM_001079821.2:c.283+1773delC;NM_001127461.2:c.283+1773delC;NM_001127462.2:c.283+1773delC;NM_001243133.1:c.277+1773delC;NM_004895.4:c.283+1773delC;NM_183395.2:c.283+1773delC 8040679 5782426 INDEL_GP31_100006 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 ABI 114548 NC_000001.10:g.247584152delC;NG_007509.2:g.9678delC;NM_001079821.2:c.283+1773delC;NM_001127461.2:c.283+1773delC;NM_001127462.2:c.283+1773delC;NM_001243133.1:c.277+1773delC;NM_004895.4:c.283+1773delC;NM_183395.2:c.283+1773delC 41209491 5782426 hCV33568120 2005.07.17 2005.07.17 2003.04.21 2011.07.08 137 HGSV 114548 NC_000001.10:g.247584168C>T;NG_007509.2:g.9694C>T;NM_001079821.2:c.283+1789C>T;NM_001127461.2:c.283+1789C>T;NM_001127462.2:c.283+1789C>T;NM_001243133.1:c.277+1789C>T;NM_004895.4:c.283+1789C>T;NM_183395.2:c.283+1789C>T 85068324 60889666 Cor19240_SNV_20070510.chr1_243910209 8.20e-03 2007.12.08 2007.12.08 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584168C>T;NG_007509.2:g.9694C>T;NM_001079821.2:c.283+1789C>T;NM_001127461.2:c.283+1789C>T;NM_001127462.2:c.283+1789C>T;NM_001243133.1:c.277+1789C>T;NM_004895.4:c.283+1789C>T;NM_183395.2:c.283+1789C>T 112114331 60889666 NA19240_2008_12_16_266107_chr1_245650791 8.20e-03 2008.12.17 2008.12.17 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584168C>T;NG_007509.2:g.9694C>T;NM_001079821.2:c.283+1789C>T;NM_001127461.2:c.283+1789C>T;NM_001127462.2:c.283+1789C>T;NM_001243133.1:c.277+1789C>T;NM_004895.4:c.283+1789C>T;NM_183395.2:c.283+1789C>T 165636021 60889666 NA19240_36_chr1_245650791 8.20e-03 2009.09.30 2009.09.30 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584168C>T;NG_007509.2:g.9694C>T;NM_001079821.2:c.283+1789C>T;NM_001127461.2:c.283+1789C>T;NM_001127462.2:c.283+1789C>T;NM_001243133.1:c.277+1789C>T;NM_004895.4:c.283+1789C>T;NM_183395.2:c.283+1789C>T 219005618 60889666 pilot_1_YRI_815301_chr1_245650791 8.20e-03 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247584210C>T;NG_007509.2:g.9736C>T;NM_001079821.2:c.283+1831C>T;NM_001127461.2:c.283+1831C>T;NM_001127462.2:c.283+1831C>T;NM_001243133.1:c.277+1831C>T;NM_004895.4:c.283+1831C>T;NM_183395.2:c.283+1831C>T 199903788 79298416 BUSHMAN-chr1-245650832 9.00e-04 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584210C>T;NG_007509.2:g.9736C>T;NM_001079821.2:c.283+1831C>T;NM_001127461.2:c.283+1831C>T;NM_001127462.2:c.283+1831C>T;NM_001243133.1:c.277+1831C>T;NM_004895.4:c.283+1831C>T;NM_183395.2:c.283+1831C>T 219005619 79298416 pilot_1_YRI_815302_chr1_245650833 9.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584274C>T;NG_007509.2:g.9800C>T;NM_001079821.2:c.283+1895C>T;NM_001127461.2:c.283+1895C>T;NM_001127462.2:c.283+1895C>T;NM_001243133.1:c.277+1895C>T;NM_004895.4:c.283+1895C>T;NM_183395.2:c.283+1895C>T 329363748 147043293 20100804_snps_1007284_chr1_247584274 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247584334G>A;NG_007509.2:g.9860G>A;NM_001079821.2:c.283+1955G>A;NM_001127461.2:c.283+1955G>A;NM_001127462.2:c.283+1955G>A;NM_001243133.1:c.277+1955G>A;NM_004895.4:c.283+1955G>A;NM_183395.2:c.283+1955G>A 329363749 145181652 20100804_snps_1007285_chr1_247584334 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 18120920 12048215 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12247955 1.63e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 66978255 12048215 HumanHap550v1.1_rs12048215 1.63e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 67149826 12048215 HumanHap650Yv1.0_rs12048215 1.63e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 68120077 12048215 HumanHap250Sv1.0_rs12048215 1.63e-01 2006.12.06 2006.12.07 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 70553586 12048215 HumanHap550v3.0__rs12048215 1.63e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 71089867 12048215 HumanHap650Yv3.0_rs12048215 1.63e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 75859142 12048215 ILMN_Human_1M_rs12048215 1.63e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 85176995 12048215 KHS919569 1.63e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 102842944 12048215 BGI_rs12048215 1.63e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 153121048 12048215 Human610_Quadv1_B_rs12048215-128_T_F_1502105842 1.63e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 156563810 12048215 GMI_SNP_133607871 1.63e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 159201572 12048215 Human660W-Quad_v1_A_rs12048215-128_T_F_1502105842 1.63e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 167597134 12048215 NA20431_36_chr1_245651214 1.63e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 171814162 12048215 Human1M-Duov3_B_rs12048215-128_T_F_1502105842 1.63e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 219005620 12048215 pilot_1_YRI_815303_chr1_245651214 1.63e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 230995428 12048215 pilot_1_CEU_600057_chr1_245651214 1.63e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 238590412 12048215 pilot_1_CHB+JPT_475489_chr1_245651214 1.63e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247584591A>G;NG_007509.2:g.10117A>G;NM_001079821.2:c.284-1941A>G;NM_001127461.2:c.284-1941A>G;NM_001127462.2:c.284-1941A>G;NM_001243133.1:c.278-1941A>G;NM_004895.4:c.284-1941A>G;NM_183395.2:c.284-1941A>G 276310489 12048215 GMI_AK_SNP_630656 1.63e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 18114587 12044934 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12247962 1.63e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 102842945 12044934 BGI_rs12044934 1.63e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 156563815 12044934 GMI_SNP_133376332 1.63e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 167597136 12044934 NA20431_36_chr1_245651221 1.63e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 230995429 12044934 pilot_1_CEU_600058_chr1_245651221 1.63e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 238590413 12044934 pilot_1_CHB+JPT_475490_chr1_245651221 1.63e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247584598T>G;NG_007509.2:g.10124T>G;NM_001079821.2:c.284-1934T>G;NM_001127461.2:c.284-1934T>G;NM_001127462.2:c.284-1934T>G;NM_001243133.1:c.278-1934T>G;NM_004895.4:c.284-1934T>G;NM_183395.2:c.284-1934T>G 276310490 12044934 GMI_AK_SNP_630657 1.63e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 16441402 10754555 CSHL-HuAA-200402.chr1.NT_004836.15_12248007 4.18e-01 2004.02.17 2004.05.17 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 18108909 10754555 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12248007 4.18e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 18192833 10754555 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12248007 4.18e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 19138536 10754555 CSHL-HuDD-200402.chr1.NT_004836.15_12248007 4.18e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 20597046 10754555 WGSA-200403-chr1.chr1.NT_004836.15_12248007 4.18e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 44121443 10754555 hCV31451929 4.18e-01 2005.07.18 2005.07.18 2004.02.27 2012.11.28 137 AFFY 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 66403875 10754555 SNP_A-2098659 4.18e-01 2006.10.29 2008.03.31 2004.02.27 2012.11.28 137 AFFY 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 76155401 10754555 AFFY_6_1M_SNP_A-2098659 4.18e-01 2007.08.30 2010.03.07 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 78176739 10754555 Cor12878_SNV_20070510.chr1_243910684 4.18e-01 2007.10.18 2007.10.18 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 82755444 10754555 KHS318378 4.18e-01 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 88051219 10754555 JWB-0217778 4.18e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 98020130 10754555 1103675395109 4.18e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 102842946 10754555 BGI_rs10754555 4.18e-01 2008.06.04 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 109136444 10754555 CEU.trio.12.15.2008_293412_chr1_245651266 4.18e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 112114341 10754555 NA19240_2008_12_16_266108_chr1_245651266 4.18e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 138194235 10754555 ENSSNP5861261 4.18e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 138997959 10754555 ENSSNP197671 4.18e-01 2009.05.18 2009.10.16 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 156563824 10754555 GMI_SNP_36732845 4.18e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 165636031 10754555 NA19240_36_chr1_245651266 4.18e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 167597138 10754555 NA20431_36_chr1_245651266 4.18e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 AFFY 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 172660765 10754555 GenomeWideSNP_5_SNP_A-2098659 4.18e-01 2009.10.02 2009.10.02 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 199903792 10754555 BUSHMAN-chr1-245651265 4.18e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 205311460 10754555 BCM_CMT_1011-135111 4.18e-01 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 219005621 10754555 pilot_1_YRI_815304_chr1_245651266 4.18e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 230995430 10754555 pilot_1_CEU_600059_chr1_245651266 4.18e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 238590414 10754555 pilot_1_CHB+JPT_475491_chr1_245651266 4.18e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 253948930 10754555 SNP242643_1_245651266 4.18e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 276310491 10754555 GMI_AK_SNP_630658 4.18e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247584643G>C;NG_007509.2:g.10169G>C;NM_001079821.2:c.284-1889G>C;NM_001127461.2:c.284-1889G>C;NM_001127462.2:c.284-1889G>C;NM_001243133.1:c.278-1889G>C;NM_004895.4:c.284-1889G>C;NM_183395.2:c.284-1889G>C 290789426 10754555 SNP_295784_chr1_245651266 4.18e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247584680C>A;NG_007509.2:g.10206C>A;NM_001079821.2:c.284-1852C>A;NM_001127461.2:c.284-1852C>A;NM_001127462.2:c.284-1852C>A;NM_001243133.1:c.278-1852C>A;NM_004895.4:c.284-1852C>A;NM_183395.2:c.284-1852C>A 329363750 149129141 20100804_snps_1007286_chr1_247584680 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247584749C>T;NG_007509.2:g.10275C>T;NM_001079821.2:c.284-1783C>T;NM_001127461.2:c.284-1783C>T;NM_001127462.2:c.284-1783C>T;NM_001243133.1:c.278-1783C>T;NM_004895.4:c.284-1783C>T;NM_183395.2:c.284-1783C>T 219005622 78021268 pilot_1_YRI_815305_chr1_245651372 2.20e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247584930A>G;NG_007509.2:g.10456A>G;NM_001079821.2:c.284-1602A>G;NM_001127461.2:c.284-1602A>G;NM_001127462.2:c.284-1602A>G;NM_001243133.1:c.278-1602A>G;NM_004895.4:c.284-1602A>G;NM_183395.2:c.284-1602A>G 329363751 143395824 20100804_snps_1007287_chr1_247584930 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247585045G>A;NG_007509.2:g.10571G>A;NM_001079821.2:c.284-1487G>A;NM_001127461.2:c.284-1487G>A;NM_001127462.2:c.284-1487G>A;NM_001243133.1:c.278-1487G>A;NM_004895.4:c.284-1487G>A;NM_183395.2:c.284-1487G>A 454808104 182198973 20101123_snps_975334_chr1_247585045 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247585147C>T;NG_007509.2:g.10673C>T;NM_001079821.2:c.284-1385C>T;NM_001127461.2:c.284-1385C>T;NM_001127462.2:c.284-1385C>T;NM_001243133.1:c.278-1385C>T;NM_004895.4:c.284-1385C>T;NM_183395.2:c.284-1385C>T 454808105 186870674 20101123_snps_975335_chr1_247585147 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 114548 NC_000001.10:g.247585213A>G;NG_007509.2:g.10739A>G;NM_001079821.2:c.284-1319A>G;NM_001127461.2:c.284-1319A>G;NM_001127462.2:c.284-1319A>G;NM_001243133.1:c.278-1319A>G;NM_004895.4:c.284-1319A>G;NM_183395.2:c.284-1319A>G 1389267 947181 TSC0371420 2.11e-02 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 ABI 114548 NC_000001.10:g.247585213A>G;NG_007509.2:g.10739A>G;NM_001079821.2:c.284-1319A>G;NM_001127461.2:c.284-1319A>G;NM_001127462.2:c.284-1319A>G;NM_001243133.1:c.278-1319A>G;NM_004895.4:c.284-1319A>G;NM_183395.2:c.284-1319A>G 41114973 947181 hCV12075444 2.11e-02 2005.07.17 2005.07.17 2000.10.05 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247585213A>G;NG_007509.2:g.10739A>G;NM_001079821.2:c.284-1319A>G;NM_001127461.2:c.284-1319A>G;NM_001127462.2:c.284-1319A>G;NM_001243133.1:c.278-1319A>G;NM_004895.4:c.284-1319A>G;NM_183395.2:c.284-1319A>G 68800562 947181 PGP04477240 2.11e-02 2007.01.30 2007.08.14 2000.10.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585213A>G;NG_007509.2:g.10739A>G;NM_001079821.2:c.284-1319A>G;NM_001127461.2:c.284-1319A>G;NM_001127462.2:c.284-1319A>G;NM_001243133.1:c.278-1319A>G;NM_004895.4:c.284-1319A>G;NM_183395.2:c.284-1319A>G 230995432 947181 pilot_1_CEU_600061_chr1_245651836 2.11e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 16451878 10802497 CSHL-HuAA-200402.chr1.NT_004836.15_12248608 3.39e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 18116339 10802497 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12248608 3.39e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 18291140 10802497 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12248608 3.39e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 20514060 10802497 WGSA-200403-chr1.chr1.NT_004836.15_12248608 3.39e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 41196622 10802497 hCV26646009 3.39e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 82147774 10802497 Cor18555_SNV_20070510.chr1_243911285 3.39e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 88051221 10802497 JWB-0217779 3.39e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 98020131 10802497 1103675395110 3.39e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 109136448 10802497 CEU.trio.12.15.2008_293413_chr1_245651867 3.39e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 138194236 10802497 ENSSNP11747538 3.39e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 138997956 10802497 ENSSNP197672 3.39e-01 2009.05.18 2010.03.07 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 167597140 10802497 NA20431_36_chr1_245651867 3.39e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 230995433 10802497 pilot_1_CEU_600062_chr1_245651867 3.39e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 238590415 10802497 pilot_1_CHB+JPT_475492_chr1_245651867 3.39e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 253948933 10802497 SNP242644_1_245651867 3.39e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 276310492 10802497 GMI_AK_SNP_630659 3.39e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247585244T>C;NG_007509.2:g.10770T>C;NM_001079821.2:c.284-1288T>C;NM_001127461.2:c.284-1288T>C;NM_001127462.2:c.284-1288T>C;NM_001243133.1:c.278-1288T>C;NM_004895.4:c.284-1288T>C;NM_183395.2:c.284-1288T>C 290789427 10802497 SNP_295785_chr1_245651867 3.39e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247585264_247585265insC;NG_007509.2:g.10790_10791insC;NM_001079821.2:c.284-1268_284-1267insC;NM_001127461.2:c.284-1268_284-1267insC;NM_001127462.2:c.284-1268_284-1267insC;NM_001243133.1:c.278-1268_278-1267insC;NM_004895.4:c.284-1268_284-1267insC;NM_183395.2:c.284-1268_284-1267insC 41308993 35074874 hCV33568121 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247585303delA;NG_007509.2:g.10829delA;NM_001079821.2:c.284-1229delA;NM_001127461.2:c.284-1229delA;NM_001127462.2:c.284-1229delA;NM_001243133.1:c.278-1229delA;NM_004895.4:c.284-1229delA;NM_183395.2:c.284-1229delA 193163322 112253302 BUSHMAN-chr1-245651925-245651926 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247585354T>C;NG_007509.2:g.10880T>C;NM_001079821.2:c.284-1178T>C;NM_001127461.2:c.284-1178T>C;NM_001127462.2:c.284-1178T>C;NM_001243133.1:c.278-1178T>C;NM_004895.4:c.284-1178T>C;NM_183395.2:c.284-1178T>C 454808106 191715703 20101123_snps_975336_chr1_247585354 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247585437T>C;NG_007509.2:g.10963T>C;NM_001079821.2:c.284-1095T>C;NM_001127461.2:c.284-1095T>C;NM_001127462.2:c.284-1095T>C;NM_001243133.1:c.278-1095T>C;NM_004895.4:c.284-1095T>C;NM_183395.2:c.284-1095T>C 99306018 71642412 1103675395107 2008.04.03 2008.04.03 2009.02.13 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 15238644 11357625 INDEL_GP34_WGS_369633 3.17e-01 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 41137248 11357625 hCV26646010 3.17e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 95261583 11357625 1104685304925 3.17e-01 2008.03.21 2008.12.02 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 99593930 11357625 INDEL_GP36_2007a_279998_0 3.17e-01 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 100444752 11357625 INDEL_GP36_2008a_918346_0 3.17e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 100444754 11357625 INDEL_GP36_2008a_918346_1 3.17e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 100469173 11357625 INDEL_GP36_2008a_279998_1 3.17e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 100469175 11357625 INDEL_GP36_2008a_279998_2 3.17e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 100469179 11357625 INDEL_GP36_2008a_279998_3 3.17e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 255981155 11357625 SNP15678_1_245652067 3.17e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 287692038 11357625 GMI_NA10851_INDEL_24666 3.17e-01 2010.12.18 2010.12.20 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 288119525 11357625 GMI_AK_INDEL_90628 3.17e-01 2010.12.21 2011.12.23 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 294636719 11357625 DIP_74423_chr1_245652068 3.17e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 294636720 11357625 DIP_74424_chr1_245652069 3.17e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 326158596 11357625 JPTCHB_chr1_245652067_indel 3.17e-01 2011.03.11 2011.04.02 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 326164536 11357625 CEU_chr1_245652067_indel 3.17e-01 2011.03.11 2011.04.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585445delC;NG_007509.2:g.10971delC;NM_001079821.2:c.284-1087delC;NM_001127461.2:c.284-1087delC;NM_001127462.2:c.284-1087delC;NM_001243133.1:c.278-1087delC;NM_004895.4:c.284-1087delC;NM_183395.2:c.284-1087delC 499190821 11357625 20110316_indels_chr1_247585444_247585444 3.17e-01 2012.03.19 2012.03.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247585446C>A;NG_007509.2:g.10972C>A;NM_001079821.2:c.284-1086C>A;NM_001127461.2:c.284-1086C>A;NM_001127462.2:c.284-1086C>A;NM_001243133.1:c.278-1086C>A;NM_004895.4:c.284-1086C>A;NM_183395.2:c.284-1086C>A 276310493 200686955 GMI_AK_SNP_630660 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247585551C>T;NG_007509.2:g.11077C>T;NM_001079821.2:c.284-981C>T;NM_001127461.2:c.284-981C>T;NM_001127462.2:c.284-981C>T;NM_001243133.1:c.278-981C>T;NM_004895.4:c.284-981C>T;NM_183395.2:c.284-981C>T 454808107 181229361 20101123_snps_975337_chr1_247585551 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247585602G>A;NG_007509.2:g.11128G>A;NM_001079821.2:c.284-930G>A;NM_001127461.2:c.284-930G>A;NM_001127462.2:c.284-930G>A;NM_001243133.1:c.278-930G>A;NM_004895.4:c.284-930G>A;NM_183395.2:c.284-930G>A 18109383 12042182 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12248966 1.58e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247585602G>A;NG_007509.2:g.11128G>A;NM_001079821.2:c.284-930G>A;NM_001127461.2:c.284-930G>A;NM_001127462.2:c.284-930G>A;NM_001243133.1:c.278-930G>A;NM_004895.4:c.284-930G>A;NM_183395.2:c.284-930G>A 156563830 12042182 GMI_SNP_280447916 1.58e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247585602G>A;NG_007509.2:g.11128G>A;NM_001079821.2:c.284-930G>A;NM_001127461.2:c.284-930G>A;NM_001127462.2:c.284-930G>A;NM_001243133.1:c.278-930G>A;NM_004895.4:c.284-930G>A;NM_183395.2:c.284-930G>A 167597142 12042182 NA20431_36_chr1_245652225 1.58e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247585602G>A;NG_007509.2:g.11128G>A;NM_001079821.2:c.284-930G>A;NM_001127461.2:c.284-930G>A;NM_001127462.2:c.284-930G>A;NM_001243133.1:c.278-930G>A;NM_004895.4:c.284-930G>A;NM_183395.2:c.284-930G>A 276310494 12042182 GMI_AK_SNP_630661 1.58e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585602G>A;NG_007509.2:g.11128G>A;NM_001079821.2:c.284-930G>A;NM_001127461.2:c.284-930G>A;NM_001127462.2:c.284-930G>A;NM_001243133.1:c.278-930G>A;NM_004895.4:c.284-930G>A;NM_183395.2:c.284-930G>A 329363752 12042182 20100804_snps_1007288_chr1_247585602 1.58e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 TSC-CSHL 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 1293040 870381 TSC0135835 3.37e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 6810139 870381 NT_031730.6_373881 3.37e-01 2003.02.14 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 16041925 870381 NT_004836.15_12249025 3.37e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 16384966 870381 CSHL-HuAA-200402.chr1.NT_004836.15_12249025 3.37e-01 2004.02.17 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 20437137 870381 WGSA-200403-chr1.chr1.NT_004836.15_12249025 3.37e-01 2004.03.18 2004.03.18 2000.10.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 83382718 870381 Cor18555_SNV_20070510.chr1_243911702 3.37e-01 2007.12.04 2007.12.04 2000.10.05 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 88051224 870381 JWB-0217780 3.37e-01 2008.02.27 2008.02.27 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 98020132 870381 1103675395111 3.37e-01 2008.03.30 2008.03.30 2000.10.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 138194237 870381 ENSSNP7279960 3.37e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 138997953 870381 ENSSNP197673 3.37e-01 2009.05.18 2010.03.07 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 167597144 870381 NA20431_36_chr1_245652284 3.37e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 BL 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 253948936 870381 SNP242645_1_245652284 3.37e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 276310495 870381 GMI_AK_SNP_630662 3.37e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 290789428 870381 SNP_295786_chr1_245652284 3.37e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247585661A>G;NG_007509.2:g.11187A>G;NM_001079821.2:c.284-871A>G;NM_001127461.2:c.284-871A>G;NM_001127462.2:c.284-871A>G;NM_001243133.1:c.278-871A>G;NM_004895.4:c.284-871A>G;NM_183395.2:c.284-871A>G 329363753 870381 20100804_snps_1007289_chr1_247585661 3.37e-01 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247585680_247585681insA;NG_007509.2:g.11206_11207insA;NM_001079821.2:c.284-852_284-851insA;NM_001127461.2:c.284-852_284-851insA;NM_001127462.2:c.284-852_284-851insA;NM_001243133.1:c.278-852_278-851insA;NM_004895.4:c.284-852_284-851insA;NM_183395.2:c.284-852_284-851insA 193163324 111612630 BUSHMAN-chr1-245652303-245652303 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 8040680 5782427 INDEL_GP31_171046 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 99608771 5782427 INDEL_GP36_2007a_279999_0 2008.05.05 2008.05.05 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 99655191 5782427 INDEL_GP36_2007a_132832_0 2008.05.05 2008.05.05 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 99714402 5782427 INDEL_GP36_2007a_897063_0 2008.05.06 2008.05.06 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 100208944 5782427 INDEL_GP36_2008a_1838535_0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 100208948 5782427 INDEL_GP36_2008a_1838535_1 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 100636740 5782427 INDEL_GP36_2008a_279999_1 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 100636742 5782427 INDEL_GP36_2008a_279999_2 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 101840428 5782427 INDEL_GP36_2008a_897063_1 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 101840432 5782427 INDEL_GP36_2008a_897063_2 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 101840435 5782427 INDEL_GP36_2008a_897063_3 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 101840437 5782427 INDEL_GP36_2008a_897063_4 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 GMI 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 288119527 5782427 GMI_AK_INDEL_90629 2010.12.21 2011.12.23 2003.04.21 2012.11.28 137 PJP 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 294636721 5782427 DIP_74425_chr1_245652304 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 PJP 114548 NC_000001.10:g.247585681_247585682insA;NC_000001.10:g.247585681_247585682insAA;NG_007509.2:g.11207_11208insA;NG_007509.2:g.11207_11208insAA;NM_001079821.2:c.284-851_284-850insA;NM_001079821.2:c.284-851_284-850insAA;NM_001127461.2:c.284-851_284-850insA;NM_001127461.2:c.284-851_284-850insAA;NM_001127462.2:c.284-851_284-850insA;NM_001127462.2:c.284-851_284-850insAA;NM_001243133.1:c.278-851_278-850insA;NM_001243133.1:c.278-851_278-850insAA;NM_004895.4:c.284-851_284-850insA;NM_004895.4:c.284-851_284-850insAA;NM_183395.2:c.284-851_284-850insA;NM_183395.2:c.284-851_284-850insAA 294636722 5782427 DIP_74426_chr1_245652319 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247585685_247585686insA;NC_000001.10:g.247585685_247585686insNAA;NG_007509.2:g.11211_11212insA;NG_007509.2:g.11211_11212insNAA;NM_001079821.2:c.284-847_284-846insA;NM_001079821.2:c.284-847_284-846insNAA;NM_001127461.2:c.284-847_284-846insA;NM_001127461.2:c.284-847_284-846insNAA;NM_001127462.2:c.284-847_284-846insA;NM_001127462.2:c.284-847_284-846insNAA;NM_001243133.1:c.278-847_278-846insA;NM_001243133.1:c.278-847_278-846insNAA;NM_004895.4:c.284-847_284-846insA;NM_004895.4:c.284-847_284-846insNAA;NM_183395.2:c.284-847_284-846insA;NM_183395.2:c.284-847_284-846insNAA 15343603 11454569 INDEL_GP34_WGS_493813 2003.11.14 2003.11.22 2004.02.28 2012.05.16 137 BCMHGSC_JDW 114548 NC_000001.10:g.247585685_247585686insA;NC_000001.10:g.247585685_247585686insNAA;NG_007509.2:g.11211_11212insA;NG_007509.2:g.11211_11212insNAA;NM_001079821.2:c.284-847_284-846insA;NM_001079821.2:c.284-847_284-846insNAA;NM_001127461.2:c.284-847_284-846insA;NM_001127461.2:c.284-847_284-846insNAA;NM_001127462.2:c.284-847_284-846insA;NM_001127462.2:c.284-847_284-846insNAA;NM_001243133.1:c.278-847_278-846insA;NM_001243133.1:c.278-847_278-846insNAA;NM_004895.4:c.284-847_284-846insA;NM_004895.4:c.284-847_284-846insNAA;NM_183395.2:c.284-847_284-846insA;NM_183395.2:c.284-847_284-846insNAA 103806126 11454569 JWB-4161852 2008.06.07 2009.05.12 2004.02.28 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 8040681 5782428 INDEL_GP31_44437 2003.04.16 2003.10.10 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 49867700 5782428 INDEL_GP35_TSC_40670 2006.01.23 2006.01.23 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 49886909 5782428 INDEL_GP35_TSC_66197 2006.01.23 2006.01.23 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 49973942 5782428 INDEL_GP35_TSC_183410 2006.01.23 2006.01.23 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 94577903 5782428 INDEL_GP36_2008a_143382_1 2008.03.06 2008.05.16 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585689_247585690insA;NC_000001.10:g.247585689_247585690insAA;NG_007509.2:g.11215_11216insA;NG_007509.2:g.11215_11216insAA;NM_001079821.2:c.284-843_284-842insA;NM_001079821.2:c.284-843_284-842insAA;NM_001127461.2:c.284-843_284-842insA;NM_001127461.2:c.284-843_284-842insAA;NM_001127462.2:c.284-843_284-842insA;NM_001127462.2:c.284-843_284-842insAA;NM_001243133.1:c.278-843_278-842insA;NM_001243133.1:c.278-843_278-842insAA;NM_004895.4:c.284-843_284-842insA;NM_004895.4:c.284-843_284-842insAA;NM_183395.2:c.284-843_284-842insA;NM_183395.2:c.284-843_284-842insAA 99561663 5782428 INDEL_GP36_2007a_143382_0 2008.05.05 2008.05.05 2003.04.21 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585690_247585691insA;NC_000001.10:g.247585690_247585691insAA;NG_007509.2:g.11216_11217insA;NG_007509.2:g.11216_11217insAA;NM_001079821.2:c.284-842_284-841insA;NM_001079821.2:c.284-842_284-841insAA;NM_001127461.2:c.284-842_284-841insA;NM_001127461.2:c.284-842_284-841insAA;NM_001127462.2:c.284-842_284-841insA;NM_001127462.2:c.284-842_284-841insAA;NM_001243133.1:c.278-842_278-841insA;NM_001243133.1:c.278-842_278-841insAA;NM_004895.4:c.284-842_284-841insA;NM_004895.4:c.284-842_284-841insAA;NM_183395.2:c.284-842_284-841insA;NM_183395.2:c.284-842_284-841insAA 49867500 35463440 INDEL_GP35_TSC_40399 2006.01.23 2006.01.23 2006.03.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585690_247585691insA;NC_000001.10:g.247585690_247585691insAA;NG_007509.2:g.11216_11217insA;NG_007509.2:g.11216_11217insAA;NM_001079821.2:c.284-842_284-841insA;NM_001079821.2:c.284-842_284-841insAA;NM_001127461.2:c.284-842_284-841insA;NM_001127461.2:c.284-842_284-841insAA;NM_001127462.2:c.284-842_284-841insA;NM_001127462.2:c.284-842_284-841insAA;NM_001243133.1:c.278-842_278-841insA;NM_001243133.1:c.278-842_278-841insAA;NM_004895.4:c.284-842_284-841insA;NM_004895.4:c.284-842_284-841insAA;NM_183395.2:c.284-842_284-841insA;NM_183395.2:c.284-842_284-841insAA 100972749 35463440 INDEL_GP36_2008a_132883_0 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247585690_247585691insA;NC_000001.10:g.247585690_247585691insAA;NG_007509.2:g.11216_11217insA;NG_007509.2:g.11216_11217insAA;NM_001079821.2:c.284-842_284-841insA;NM_001079821.2:c.284-842_284-841insAA;NM_001127461.2:c.284-842_284-841insA;NM_001127461.2:c.284-842_284-841insAA;NM_001127462.2:c.284-842_284-841insA;NM_001127462.2:c.284-842_284-841insAA;NM_001243133.1:c.278-842_278-841insA;NM_001243133.1:c.278-842_278-841insAA;NM_004895.4:c.284-842_284-841insA;NM_004895.4:c.284-842_284-841insAA;NM_183395.2:c.284-842_284-841insA;NM_183395.2:c.284-842_284-841insAA 100972753 35463440 INDEL_GP36_2008a_132883_1 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 TSC-CSHL 114548 NC_000001.10:g.247585696_247585697insA;NC_000001.10:g.247585696_247585697insAA;NG_007509.2:g.11222_11223insA;NG_007509.2:g.11222_11223insAA;NM_001079821.2:c.284-836_284-835insA;NM_001079821.2:c.284-836_284-835insAA;NM_001127461.2:c.284-836_284-835insA;NM_001127461.2:c.284-836_284-835insAA;NM_001127462.2:c.284-836_284-835insA;NM_001127462.2:c.284-836_284-835insAA;NM_001243133.1:c.278-836_278-835insA;NM_001243133.1:c.278-836_278-835insAA;NM_004895.4:c.284-836_284-835insA;NM_004895.4:c.284-836_284-835insAA;NM_183395.2:c.284-836_284-835insA;NM_183395.2:c.284-836_284-835insAA 4309879 3078448 TSC1582775 2001.11.09 2003.10.10 2002.01.05 2012.05.16 137 HGSV 114548 NC_000001.10:g.247585696_247585697insA;NC_000001.10:g.247585696_247585697insAA;NG_007509.2:g.11222_11223insA;NG_007509.2:g.11222_11223insAA;NM_001079821.2:c.284-836_284-835insA;NM_001079821.2:c.284-836_284-835insAA;NM_001127461.2:c.284-836_284-835insA;NM_001127461.2:c.284-836_284-835insAA;NM_001127462.2:c.284-836_284-835insA;NM_001127462.2:c.284-836_284-835insAA;NM_001243133.1:c.278-836_278-835insA;NM_001243133.1:c.278-836_278-835insAA;NM_004895.4:c.284-836_284-835insA;NM_004895.4:c.284-836_284-835insAA;NM_183395.2:c.284-836_284-835insA;NM_183395.2:c.284-836_284-835insAA 77965339 3078448 Cor12156_DIV_20070510.chr1_243911737-243911738_1 2007.10.16 2007.10.16 2002.01.05 2012.05.16 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247585696_247585697insA;NC_000001.10:g.247585696_247585697insAA;NG_007509.2:g.11222_11223insA;NG_007509.2:g.11222_11223insAA;NM_001079821.2:c.284-836_284-835insA;NM_001079821.2:c.284-836_284-835insAA;NM_001127461.2:c.284-836_284-835insA;NM_001127461.2:c.284-836_284-835insAA;NM_001127462.2:c.284-836_284-835insA;NM_001127462.2:c.284-836_284-835insAA;NM_001243133.1:c.278-836_278-835insA;NM_001243133.1:c.278-836_278-835insAA;NM_004895.4:c.284-836_284-835insA;NM_004895.4:c.284-836_284-835insAA;NM_183395.2:c.284-836_284-835insA;NM_183395.2:c.284-836_284-835insAA 95261584 3078448 1104685304926 2008.03.21 2008.12.02 2002.01.05 2012.05.16 137 1000GENOMES 114548 NC_000001.10:g.247585705G>C;NG_007509.2:g.11231G>C;NM_001079821.2:c.284-827G>C;NM_001127461.2:c.284-827G>C;NM_001127462.2:c.284-827G>C;NM_001243133.1:c.278-827G>C;NM_004895.4:c.284-827G>C;NM_183395.2:c.284-827G>C 219005623 76636483 pilot_1_YRI_815306_chr1_245652328 6.40e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247585843G>A;NG_007509.2:g.11369G>A;NM_001079821.2:c.284-689G>A;NM_001127461.2:c.284-689G>A;NM_001127462.2:c.284-689G>A;NM_001243133.1:c.278-689G>A;NM_004895.4:c.284-689G>A;NM_183395.2:c.284-689G>A 454808108 185881516 20101123_snps_975338_chr1_247585843 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247585933delA;NG_007509.2:g.11459delA;NM_001079821.2:c.284-599delA;NM_001127461.2:c.284-599delA;NM_001127462.2:c.284-599delA;NM_001243133.1:c.278-599delA;NM_004895.4:c.284-599delA;NM_183395.2:c.284-599delA 41290716 34449953 hCV33568126 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247585934A>G;NG_007509.2:g.11460A>G;NM_001079821.2:c.284-598A>G;NM_001127461.2:c.284-598A>G;NM_001127462.2:c.284-598A>G;NM_001243133.1:c.278-598A>G;NM_004895.4:c.284-598A>G;NM_183395.2:c.284-598A>G 329363754 145793275 20100804_snps_1007290_chr1_247585934 2.15e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 114548 NC_000001.10:g.247585943C>T;NG_007509.2:g.11469C>T;NM_001079821.2:c.284-589C>T;NM_001127461.2:c.284-589C>T;NM_001127462.2:c.284-589C>T;NM_001243133.1:c.278-589C>T;NM_004895.4:c.284-589C>T;NM_183395.2:c.284-589C>T 276310496 200764097 GMI_AK_SNP_630663 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247586040G>A;NG_007509.2:g.11566G>A;NM_001079821.2:c.284-492G>A;NM_001127461.2:c.284-492G>A;NM_001127462.2:c.284-492G>A;NM_001243133.1:c.278-492G>A;NM_004895.4:c.284-492G>A;NM_183395.2:c.284-492G>A 454808109 190253471 20101123_snps_975339_chr1_247586040 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 19111272 12403988 CSHL-HuDD-200402.chr1.NT_004836.15_12249550 3.89e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 44062552 12403988 hCV26646012 3.89e-02 2005.07.18 2006.11.03 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 219005624 12403988 pilot_1_YRI_815307_chr1_245652809 3.89e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 230995434 12403988 pilot_1_CEU_600063_chr1_245652809 3.89e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 244276223 12403988 CVDSNP55v1_A_rs12403988 3.89e-02 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 482298364 12403988 HumanOmni2.5-4v1_B_SNP1-245652809-0_T_R_1616737676 3.89e-02 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586186C>T;NG_007509.2:g.11712C>T;NM_001079821.2:c.284-346C>T;NM_001127461.2:c.284-346C>T;NM_001127462.2:c.284-346C>T;NM_001243133.1:c.278-346C>T;NM_004895.4:c.284-346C>T;NM_183395.2:c.284-346C>T 483346519 12403988 HumanOmni2.5-4v1_D_kgp4382316-0_T_R_1820934978 3.89e-02 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247586259T>C;NG_007509.2:g.11785T>C;NM_001079821.2:c.284-273T>C;NM_001127461.2:c.284-273T>C;NM_001127462.2:c.284-273T>C;NM_001243133.1:c.278-273T>C;NM_004895.4:c.284-273T>C;NM_183395.2:c.284-273T>C 119287721 74154636 NA18507_000265585_NCBI36.1_chr1_245652882 3.20e-03 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586259T>C;NG_007509.2:g.11785T>C;NM_001079821.2:c.284-273T>C;NM_001127461.2:c.284-273T>C;NM_001127462.2:c.284-273T>C;NM_001243133.1:c.278-273T>C;NM_004895.4:c.284-273T>C;NM_183395.2:c.284-273T>C 329363755 74154636 20100804_snps_1007291_chr1_247586259 3.20e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 YUSUKE 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 4992658 3806265 IMS-JST165517 4.37e-01 2002.08.12 2003.11.22 2002.08.28 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 11391730 3806265 chr1.NT_004536.14_1585888 4.37e-01 2003.07.03 2006.10.25 2002.08.28 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 19148811 3806265 CSHL-HuDD-200402.chr1.NT_004836.15_12249700 4.37e-01 2004.02.20 2004.03.04 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 23275947 3806265 afd4638180 4.37e-01 2004.08.20 2004.09.13 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 67305058 3806265 HumanHap550v1.1_rs3806265 4.37e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 67710172 3806265 HumanHap650Yv1.0_rs3806265 4.37e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 68222239 3806265 HumanHap250Sv1.0_rs3806265 4.37e-01 2006.12.06 2006.12.07 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 68800563 3806265 PGP04638180 4.37e-01 2007.01.30 2008.03.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 70783711 3806265 HumanHap550v3.0__rs3806265 4.37e-01 2007.04.20 2008.03.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 71360362 3806265 HumanHap650Yv3.0_rs3806265 4.37e-01 2007.04.23 2007.04.23 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 75606150 3806265 ILMN_Human_1M_rs3806265 4.37e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 84192055 3806265 KHS654582 4.37e-01 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 106647968 3806265 BGI_rs3806265 4.37e-01 2008.09.17 2009.06.17 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 109136456 3806265 CEU.trio.12.15.2008_293415_chr1_245652959 4.37e-01 2008.12.16 2008.12.16 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 112114347 3806265 NA19240_2008_12_16_266109_chr1_245652959 4.37e-01 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 119287723 3806265 NA18507_000265586_NCBI36.1_chr1_245652959 4.37e-01 2009.01.22 2009.01.22 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 154271352 3806265 Human610_Quadv1_B_rs3806265-128_T_R_1502208270 4.37e-01 2009.06.20 2009.06.20 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 156563836 3806265 GMI_SNP_100488766 4.37e-01 2009.06.25 2009.06.25 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 159448085 3806265 Human660W-Quad_v1_A_rs3806265-128_T_R_1502208270 4.37e-01 2009.07.07 2009.07.07 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 160644884 3806265 HumanOmni1-Quad_v1-0_B_rs3806265-128_T_R_1501490754 4.37e-01 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 165636039 3806265 NA19240_36_chr1_245652959 4.37e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 167597146 3806265 NA20431_36_chr1_245652959 4.37e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 173647186 3806265 Human1M-Duov3_B_rs3806265-128_T_R_1502208270 4.37e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 199903795 3806265 BUSHMAN-chr1-245652958 4.37e-01 2010.03.07 2010.03.07 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 205380208 3806265 BCM_CMT_1011-169570 4.37e-01 2010.03.15 2010.03.15 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 219005625 3806265 pilot_1_YRI_815308_chr1_245652959 4.37e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 230995435 3806265 pilot_1_CEU_600064_chr1_245652959 4.37e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 238590416 3806265 pilot_1_CHB+JPT_475493_chr1_245652959 4.37e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 244297504 3806265 CVDSNP55v1_A_rs3806265 4.37e-01 2010.06.10 2010.06.10 2002.08.28 2012.11.28 137 BL 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 253948939 3806265 SNP242646_1_245652959 4.37e-01 2010.08.19 2010.08.19 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 276310497 3806265 GMI_AK_SNP_630664 4.37e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 290789429 3806265 SNP_295787_chr1_245652959 4.37e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 480843182 3806265 HumanOmni2.5-4v1_B_rs3806265-128_T_R_1690734855 4.37e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 480860224 3806265 HumanOmniExpress-12v1_C_rs3806265-131_T_R_1857498335 4.37e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 481794195 3806265 HumanOmni1-Quad_v1-0_C_rs3806265-131_T_R_1865521979 4.37e-01 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586336T>C;NG_007509.2:g.11862T>C;NM_001079821.2:c.284-196T>C;NM_001127461.2:c.284-196T>C;NM_001127462.2:c.284-196T>C;NM_001243133.1:c.278-196T>C;NM_004895.4:c.284-196T>C;NM_183395.2:c.284-196T>C 485216474 3806265 HumanOmni2.5-4v1_D_rs3806265-131_T_R_1857498335 4.37e-01 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586346A>T;NG_007509.2:g.11872A>T;NM_001079821.2:c.284-186A>T;NM_001127461.2:c.284-186A>T;NM_001127462.2:c.284-186A>T;NM_001243133.1:c.278-186A>T;NM_004895.4:c.284-186A>T;NM_183395.2:c.284-186A>T 454808110 182117140 20101123_snps_975340_chr1_247586346 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 114548 NC_000001.10:g.247586394T>G;NG_007509.2:g.11920T>G;NM_001079821.2:c.284-138T>G;NM_001127461.2:c.284-138T>G;NM_001127462.2:c.284-138T>G;NM_001243133.1:c.278-138T>G;NM_004895.4:c.284-138T>G;NM_183395.2:c.284-138T>G 19148820 12410288 CSHL-HuDD-200402.chr1.NT_004836.15_12249758 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ABI 114548 NC_000001.10:g.247586394T>G;NG_007509.2:g.11920T>G;NM_001079821.2:c.284-138T>G;NM_001127461.2:c.284-138T>G;NM_001127462.2:c.284-138T>G;NM_001243133.1:c.278-138T>G;NM_004895.4:c.284-138T>G;NM_183395.2:c.284-138T>G 41313251 12410288 hCV31451931 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247586451A>T;NG_007509.2:g.11977A>T;NM_001079821.2:c.284-81A>T;NM_001127461.2:c.284-81A>T;NM_001127462.2:c.284-81A>T;NM_001243133.1:c.278-81A>T;NM_004895.4:c.284-81A>T;NM_183395.2:c.284-81A>T 454808111 187673628 20101123_snps_975341_chr1_247586451 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247586476A>T;NG_007509.2:g.12002A>T;NM_001079821.2:c.284-56A>T;NM_001127461.2:c.284-56A>T;NM_001127462.2:c.284-56A>T;NM_001243133.1:c.278-56A>T;NM_004895.4:c.284-56A>T;NM_183395.2:c.284-56A>T 454808112 192201564 20101123_snps_975342_chr1_247586476 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247586476A>T;NG_007509.2:g.12002A>T;NM_001079821.2:c.284-56A>T;NM_001127461.2:c.284-56A>T;NM_001127462.2:c.284-56A>T;NM_001243133.1:c.278-56A>T;NM_004895.4:c.284-56A>T;NM_183395.2:c.284-56A>T 491619230 192201564 SNV-chr1-245653099 5.00e-04 2012.03.06 2012.03.12 2011.09.17 2012.11.28 137 SI_EXO 114548 NC_000001.10:g.247586487T>C;NG_007509.2:g.12013T>C;NM_001079821.2:c.284-45T>C;NM_001127461.2:c.284-45T>C;NM_001127462.2:c.284-45T>C;NM_001243133.1:c.278-45T>C;NM_004895.4:c.284-45T>C;NM_183395.2:c.284-45T>C 61707245 41303141 NT_004836.16_12344276 6.00e-03 2006.07.11 2006.08.17 2006.10.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586487T>C;NG_007509.2:g.12013T>C;NM_001079821.2:c.284-45T>C;NM_001127461.2:c.284-45T>C;NM_001127462.2:c.284-45T>C;NM_001243133.1:c.278-45T>C;NM_004895.4:c.284-45T>C;NM_183395.2:c.284-45T>C 329363756 41303141 20100804_snps_1007292_chr1_247586487 6.00e-03 2011.03.22 2011.03.22 2006.10.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586487T>C;NG_007509.2:g.12013T>C;NM_001079821.2:c.284-45T>C;NM_001127461.2:c.284-45T>C;NM_001127462.2:c.284-45T>C;NM_001243133.1:c.278-45T>C;NM_004895.4:c.284-45T>C;NM_183395.2:c.284-45T>C 489800476 41303141 20110521_exome_333961_chr1_247586487 6.00e-03 2012.02.15 2012.02.21 2006.10.18 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586487T>C;NG_007509.2:g.12013T>C;NM_001079821.2:c.284-45T>C;NM_001127461.2:c.284-45T>C;NM_001127462.2:c.284-45T>C;NM_001243133.1:c.278-45T>C;NM_004895.4:c.284-45T>C;NM_183395.2:c.284-45T>C 491238078 41303141 chr1_245653110 6.00e-03 2012.03.02 2012.03.02 2006.10.18 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247586487T>C;NG_007509.2:g.12013T>C;NM_001079821.2:c.284-45T>C;NM_001127461.2:c.284-45T>C;NM_001127462.2:c.284-45T>C;NM_001243133.1:c.278-45T>C;NM_004895.4:c.284-45T>C;NM_183395.2:c.284-45T>C 491619231 41303141 SNV-chr1-245653110 6.00e-03 2012.03.06 2012.03.12 2006.10.18 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586489T>C;NG_007509.2:g.12015T>C;NM_001079821.2:c.284-43T>C;NM_001127461.2:c.284-43T>C;NM_001127462.2:c.284-43T>C;NM_001243133.1:c.278-43T>C;NM_004895.4:c.284-43T>C;NM_183395.2:c.284-43T>C 491238079 199550745 chr1_245653112 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586497G>A;NG_007509.2:g.12023G>A;NM_001079821.2:c.284-35G>A;NM_001127461.2:c.284-35G>A;NM_001127462.2:c.284-35G>A;NM_001243133.1:c.278-35G>A;NM_004895.4:c.284-35G>A;NM_183395.2:c.284-35G>A 491238080 200793538 chr1_245653120 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586504G>A;NG_007509.2:g.12030G>A;NM_001079821.2:c.284-28G>A;NM_001127461.2:c.284-28G>A;NM_001127462.2:c.284-28G>A;NM_001243133.1:c.278-28G>A;NM_004895.4:c.284-28G>A;NM_183395.2:c.284-28G>A 491238081 199475728 chr1_245653127 germline untested 2012.03.02 2012.03.02 2012.04.03 2012.11.28 137 GEH 114548 NM_001079821.2:c.284-28G>A NC_000001.10:g.247586504G>A;NG_007509.2:g.12030G>A;NM_001079821.2:c.284-28G>A;NM_001127461.2:c.284-28G>A;NM_001127462.2:c.284-28G>A;NM_001243133.1:c.278-28G>A;NM_004895.4:c.284-28G>A;NM_183395.2:c.284-28G>A 506396349 199475728 NLRP3:4408 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586513C>G;NG_007509.2:g.12039C>G;NM_001079821.2:c.284-19C>G;NM_001127461.2:c.284-19C>G;NM_001127462.2:c.284-19C>G;NM_001243133.1:c.278-19C>G;NM_004895.4:c.284-19C>G;NM_183395.2:c.284-19C>G 491238082 199759180 chr1_245653136 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586515T>C;NG_007509.2:g.12041T>C;NM_001079821.2:c.284-17T>C;NM_001127461.2:c.284-17T>C;NM_001127462.2:c.284-17T>C;NM_001243133.1:c.278-17T>C;NM_004895.4:c.284-17T>C;NM_183395.2:c.284-17T>C 491238083 200908845 chr1_245653138 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247586522T>A;NC_000001.10:g.247586522T>C;NG_007509.2:g.12048T>A;NG_007509.2:g.12048T>C;NM_001079821.2:c.284-10T>A;NM_001079821.2:c.284-10T>C;NM_001127461.2:c.284-10T>A;NM_001127461.2:c.284-10T>C;NM_001127462.2:c.284-10T>A;NM_001127462.2:c.284-10T>C;NM_001243133.1:c.278-10T>A;NM_001243133.1:c.278-10T>C;NM_004895.4:c.284-10T>A;NM_004895.4:c.284-10T>C;NM_183395.2:c.284-10T>A;NM_183395.2:c.284-10T>C 454808113 184042335 20101123_snps_975343_chr1_247586522 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586522T>A;NC_000001.10:g.247586522T>C;NG_007509.2:g.12048T>A;NG_007509.2:g.12048T>C;NM_001079821.2:c.284-10T>A;NM_001079821.2:c.284-10T>C;NM_001127461.2:c.284-10T>A;NM_001127461.2:c.284-10T>C;NM_001127462.2:c.284-10T>A;NM_001127462.2:c.284-10T>C;NM_001243133.1:c.278-10T>A;NM_001243133.1:c.278-10T>C;NM_004895.4:c.284-10T>A;NM_004895.4:c.284-10T>C;NM_183395.2:c.284-10T>A;NM_183395.2:c.284-10T>C 489800478 184042335 20110521_exome_333962_chr1_247586522 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586522T>A;NC_000001.10:g.247586522T>C;NG_007509.2:g.12048T>A;NG_007509.2:g.12048T>C;NM_001079821.2:c.284-10T>A;NM_001079821.2:c.284-10T>C;NM_001127461.2:c.284-10T>A;NM_001127461.2:c.284-10T>C;NM_001127462.2:c.284-10T>A;NM_001127462.2:c.284-10T>C;NM_001243133.1:c.278-10T>A;NM_001243133.1:c.278-10T>C;NM_004895.4:c.284-10T>A;NM_004895.4:c.284-10T>C;NM_183395.2:c.284-10T>A;NM_183395.2:c.284-10T>C 491238084 184042335 chr1_245653145 5.00e-04 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586525C>T;NG_007509.2:g.12051C>T;NM_001079821.2:c.284-7C>T;NM_001127461.2:c.284-7C>T;NM_001127462.2:c.284-7C>T;NM_001243133.1:c.278-7C>T;NM_004895.4:c.284-7C>T;NM_183395.2:c.284-7C>T 491238085 199946235 chr1_245653148 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247586545A>G;NG_007509.2:g.12071A>G;NM_001079821.2:c.297A>G;NM_001127461.2:c.297A>G;NM_001127462.2:c.297A>G;NM_001243133.1:c.291A>G;NM_004895.4:c.297A>G;NM_183395.2:c.297A>G;NP_001073289.1:p.Ala99=;NP_001120933.1:p.Ala99=;NP_001120934.1:p.Ala99=;NP_001230062.1:p.Ala97=;NP_004886.3:p.Ala99=;NP_899632.1:p.Ala99= 488705549 199475729 20110521_exome_29251_chr1_247586545 5.00e-04 germline untested 2012.02.13 2012.02.13 2012.04.03 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586545A>G;NG_007509.2:g.12071A>G;NM_001079821.2:c.297A>G;NM_001127461.2:c.297A>G;NM_001127462.2:c.297A>G;NM_001243133.1:c.291A>G;NM_004895.4:c.297A>G;NM_183395.2:c.297A>G;NP_001073289.1:p.Ala99=;NP_001120933.1:p.Ala99=;NP_001120934.1:p.Ala99=;NP_001230062.1:p.Ala97=;NP_004886.3:p.Ala99=;NP_899632.1:p.Ala99= 491238086 199475729 chr1_245653168 5.00e-04 germline untested 2012.03.02 2012.03.02 2012.04.03 2012.11.28 137 GEH 114548 NM_001079821.2:c.297A>G NC_000001.10:g.247586545A>G;NG_007509.2:g.12071A>G;NM_001079821.2:c.297A>G;NM_001127461.2:c.297A>G;NM_001127462.2:c.297A>G;NM_001243133.1:c.291A>G;NM_004895.4:c.297A>G;NM_183395.2:c.297A>G;NP_001073289.1:p.Ala99=;NP_001120933.1:p.Ala99=;NP_001120934.1:p.Ala99=;NP_001230062.1:p.Ala97=;NP_004886.3:p.Ala99=;NP_899632.1:p.Ala99= 506396351 199475729 NLRP3:4449 5.00e-04 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586547G>A;NG_007509.2:g.12073G>A;NM_001079821.2:c.299G>A;NM_001127461.2:c.299G>A;NM_001127462.2:c.299G>A;NM_001243133.1:c.293G>A;NM_004895.4:c.299G>A;NM_183395.2:c.299G>A;NP_001073289.1:p.Arg100His;NP_001120933.1:p.Arg100His;NP_001120934.1:p.Arg100His;NP_001230062.1:p.Arg98His;NP_004886.3:p.Arg100His;NP_899632.1:p.Arg100His 491238087 201887896 chr1_245653170 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 YSAMUELS 114548 NC_000001.9:g.245653177G>A NC_000001.10:g.247586554G>A;NG_007509.2:g.12080G>A;NM_001079821.2:c.306G>A;NM_001127461.2:c.306G>A;NM_001127462.2:c.306G>A;NM_001243133.1:c.300G>A;NM_004895.4:c.306G>A;NM_183395.2:c.306G>A;NP_001073289.1:p.Ser102=;NP_001120933.1:p.Ser102=;NP_001120934.1:p.Ser102=;NP_001230062.1:p.Ser100=;NP_004886.3:p.Ser102=;NP_899632.1:p.Ser102= 344938141 149161277 NC_000001.9:g.245653177G>A germline untested 2011.04.05 2012.08.10 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247586554G>A;NG_007509.2:g.12080G>A;NM_001079821.2:c.306G>A;NM_001127461.2:c.306G>A;NM_001127462.2:c.306G>A;NM_001243133.1:c.300G>A;NM_004895.4:c.306G>A;NM_183395.2:c.306G>A;NP_001073289.1:p.Ser102=;NP_001120933.1:p.Ser102=;NP_001120934.1:p.Ser102=;NP_001230062.1:p.Ser100=;NP_004886.3:p.Ser102=;NP_899632.1:p.Ser102= 491619232 149161277 SNV-chr1-245653177 somatic untested 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586563T>C;NC_000001.10:g.247586563T>G;NG_007509.2:g.12089T>C;NG_007509.2:g.12089T>G;NM_001079821.2:c.315T>C;NM_001079821.2:c.315T>G;NM_001127461.2:c.315T>C;NM_001127461.2:c.315T>G;NM_001127462.2:c.315T>C;NM_001127462.2:c.315T>G;NM_001243133.1:c.309T>C;NM_001243133.1:c.309T>G;NM_004895.4:c.315T>C;NM_004895.4:c.315T>G;NM_183395.2:c.315T>C;NM_183395.2:c.315T>G;NP_001073289.1:p.Thr105=;NP_001120933.1:p.Thr105=;NP_001120934.1:p.Thr105=;NP_001230062.1:p.Thr103=;NP_004886.3:p.Thr105=;NP_899632.1:p.Thr105= 491238088 199822721 chr1_245653186 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586581C>T;NG_007509.2:g.12107C>T;NM_001079821.2:c.333C>T;NM_001127461.2:c.333C>T;NM_001127462.2:c.333C>T;NM_001243133.1:c.327C>T;NM_004895.4:c.333C>T;NM_183395.2:c.333C>T;NP_001073289.1:p.Asp111=;NP_001120933.1:p.Asp111=;NP_001120934.1:p.Asp111=;NP_001230062.1:p.Asp109=;NP_004886.3:p.Asp111=;NP_899632.1:p.Asp111= 491238089 201147343 chr1_245653204 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586583G>A;NG_007509.2:g.12109G>A;NM_001079821.2:c.335G>A;NM_001127461.2:c.335G>A;NM_001127462.2:c.335G>A;NM_001243133.1:c.329G>A;NM_004895.4:c.335G>A;NM_183395.2:c.335G>A;NP_001073289.1:p.Ser112Asn;NP_001120933.1:p.Ser112Asn;NP_001120934.1:p.Ser112Asn;NP_001230062.1:p.Ser110Asn;NP_004886.3:p.Ser112Asn;NP_899632.1:p.Ser112Asn 491238090 202050558 chr1_245653206 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247586583G>A;NG_007509.2:g.12109G>A;NM_001079821.2:c.335G>A;NM_001127461.2:c.335G>A;NM_001127462.2:c.335G>A;NM_001243133.1:c.329G>A;NM_004895.4:c.335G>A;NM_183395.2:c.335G>A;NP_001073289.1:p.Ser112Asn;NP_001120933.1:p.Ser112Asn;NP_001120934.1:p.Ser112Asn;NP_001230062.1:p.Ser110Asn;NP_004886.3:p.Ser112Asn;NP_899632.1:p.Ser112Asn 491619233 202050558 SNV-chr1-245653206 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586586T>C;NG_007509.2:g.12112T>C;NM_001079821.2:c.338T>C;NM_001127461.2:c.338T>C;NM_001127462.2:c.338T>C;NM_001243133.1:c.332T>C;NM_004895.4:c.338T>C;NM_183395.2:c.338T>C;NP_001073289.1:p.Ile113Thr;NP_001120933.1:p.Ile113Thr;NP_001120934.1:p.Ile113Thr;NP_001230062.1:p.Ile111Thr;NP_004886.3:p.Ile113Thr;NP_899632.1:p.Ile113Thr 491238091 200099395 chr1_245653209 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586602G>A;NG_007509.2:g.12128G>A;NM_001079821.2:c.354G>A;NM_001127461.2:c.354G>A;NM_001127462.2:c.354G>A;NM_001243133.1:c.348G>A;NM_004895.4:c.354G>A;NM_183395.2:c.354G>A;NP_001073289.1:p.Met118Ile;NP_001120933.1:p.Met118Ile;NP_001120934.1:p.Met118Ile;NP_001230062.1:p.Met116Ile;NP_004886.3:p.Met118Ile;NP_899632.1:p.Met118Ile 491238092 201017333 chr1_245653225 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247586604G>A;NG_007509.2:g.12130G>A;NM_001079821.2:c.356G>A;NM_001127461.2:c.356G>A;NM_001127462.2:c.356G>A;NM_001243133.1:c.350G>A;NM_004895.4:c.356G>A;NM_183395.2:c.356G>A;NP_001073289.1:p.Gly119Asp;NP_001120933.1:p.Gly119Asp;NP_001120934.1:p.Gly119Asp;NP_001230062.1:p.Gly117Asp;NP_004886.3:p.Gly119Asp;NP_899632.1:p.Gly119Asp 491238093 201683439 chr1_245653227 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247586637G>A;NG_007509.2:g.12163G>A;NM_001079821.2:c.389G>A;NM_001127461.2:c.389G>A;NM_001127462.2:c.389G>A;NM_001243133.1:c.383G>A;NM_004895.4:c.389G>A;NM_183395.2:c.389G>A;NP_001073289.1:p.Cys130Tyr;NP_001120933.1:p.Cys130Tyr;NP_001120934.1:p.Cys130Tyr;NP_001230062.1:p.Cys128Tyr;NP_004886.3:p.Cys130Tyr;NP_899632.1:p.Cys130Tyr 342040830 143052767 ESP2500-chr1-247586637 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247586639A>G;NG_007509.2:g.12165A>G;NM_001079821.2:c.391A>G;NM_001127461.2:c.391A>G;NM_001127462.2:c.391A>G;NM_001243133.1:c.385A>G;NM_004895.4:c.391A>G;NM_183395.2:c.391A>G;NP_001073289.1:p.Lys131Glu;NP_001120933.1:p.Lys131Glu;NP_001120934.1:p.Lys131Glu;NP_001230062.1:p.Lys129Glu;NP_004886.3:p.Lys131Glu;NP_899632.1:p.Lys131Glu 491238094 200262895 chr1_245653262 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247586640A>G;NG_007509.2:g.12166A>G;NM_001079821.2:c.392A>G;NM_001127461.2:c.392A>G;NM_001127462.2:c.392A>G;NM_001243133.1:c.386A>G;NM_004895.4:c.392A>G;NM_183395.2:c.392A>G;NP_001073289.1:p.Lys131Arg;NP_001120933.1:p.Lys131Arg;NP_001120934.1:p.Lys131Arg;NP_001230062.1:p.Lys129Arg;NP_004886.3:p.Lys131Arg;NP_899632.1:p.Lys131Arg 454808114 188623199 20101123_snps_975344_chr1_247586640 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586640A>G;NG_007509.2:g.12166A>G;NM_001079821.2:c.392A>G;NM_001127461.2:c.392A>G;NM_001127462.2:c.392A>G;NM_001243133.1:c.386A>G;NM_004895.4:c.392A>G;NM_183395.2:c.392A>G;NP_001073289.1:p.Lys131Arg;NP_001120933.1:p.Lys131Arg;NP_001120934.1:p.Lys131Arg;NP_001230062.1:p.Lys129Arg;NP_004886.3:p.Lys131Arg;NP_899632.1:p.Lys131Arg 489800480 188623199 20110521_exome_333963_chr1_247586640 9.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586657C>T;NG_007509.2:g.12183C>T;NM_001079821.2:c.403+6C>T;NM_001127461.2:c.403+6C>T;NM_001127462.2:c.403+6C>T;NM_001243133.1:c.397+6C>T;NM_004895.4:c.403+6C>T;NM_183395.2:c.403+6C>T 491238095 201165941 chr1_245653280 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247586658G>A;NG_007509.2:g.12184G>A;NM_001079821.2:c.403+7G>A;NM_001127461.2:c.403+7G>A;NM_001127462.2:c.403+7G>A;NM_001243133.1:c.397+7G>A;NM_004895.4:c.403+7G>A;NM_183395.2:c.403+7G>A 454808115 192297357 20101123_snps_975345_chr1_247586658 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586658G>A;NG_007509.2:g.12184G>A;NM_001079821.2:c.403+7G>A;NM_001127461.2:c.403+7G>A;NM_001127462.2:c.403+7G>A;NM_001243133.1:c.397+7G>A;NM_004895.4:c.403+7G>A;NM_183395.2:c.403+7G>A 489800482 192297357 20110521_exome_333964_chr1_247586658 1.40e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247586658G>A;NG_007509.2:g.12184G>A;NM_001079821.2:c.403+7G>A;NM_001127461.2:c.403+7G>A;NM_001127462.2:c.403+7G>A;NM_001243133.1:c.397+7G>A;NM_004895.4:c.403+7G>A;NM_183395.2:c.403+7G>A 491238096 192297357 chr1_245653281 1.40e-03 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247586658G>A;NG_007509.2:g.12184G>A;NM_001079821.2:c.403+7G>A;NM_001127461.2:c.403+7G>A;NM_001127462.2:c.403+7G>A;NM_001243133.1:c.397+7G>A;NM_004895.4:c.403+7G>A;NM_183395.2:c.403+7G>A 491619234 192297357 SNV-chr1-245653281 1.40e-03 2012.03.06 2012.03.12 2011.09.17 2012.11.28 137 GEH 114548 NM_001079821.2:c.403+42T>C NC_000001.10:g.247586693T>C;NG_007509.2:g.12219T>C;NM_001079821.2:c.403+42T>C;NM_001127461.2:c.403+42T>C;NM_001127462.2:c.403+42T>C;NM_001243133.1:c.397+42T>C;NM_004895.4:c.403+42T>C;NM_183395.2:c.403+42T>C 506396354 199475730 NLRP3:4597 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 BUSHMAN 114548 NC_000001.10:g.247586723C>T;NG_007509.2:g.12249C>T;NM_001079821.2:c.403+72C>T;NM_001127461.2:c.403+72C>T;NM_001127462.2:c.403+72C>T;NM_001243133.1:c.397+72C>T;NM_004895.4:c.403+72C>T;NM_183395.2:c.403+72C>T 199903798 111719836 BUSHMAN-chr1-245653345 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 GEH 114548 NM_001079821.2:c.403+139T>C NC_000001.10:g.247586790T>C;NG_007509.2:g.12316T>C;NM_001079821.2:c.403+139T>C;NM_001127461.2:c.403+139T>C;NM_001127462.2:c.403+139T>C;NM_001243133.1:c.397+139T>C;NM_004895.4:c.403+139T>C;NM_183395.2:c.403+139T>C 506396357 199475731 NLRP3:4694 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 ILLUMINA 114548 NC_000001.10:g.247586852T>G;NG_007509.2:g.12378T>G;NM_001079821.2:c.403+201T>G;NM_001127461.2:c.403+201T>G;NM_001127462.2:c.403+201T>G;NM_001243133.1:c.397+201T>G;NM_004895.4:c.403+201T>G;NM_183395.2:c.403+201T>G 481567613 201993597 HumanOmni2.5-4v1_D_kgp1816788-0_T_R_1818633367 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586852T>G;NG_007509.2:g.12378T>G;NM_001079821.2:c.403+201T>G;NM_001127461.2:c.403+201T>G;NM_001127462.2:c.403+201T>G;NM_001243133.1:c.397+201T>G;NM_004895.4:c.403+201T>G;NM_183395.2:c.403+201T>G 482298367 201993597 HumanOmni2.5-4v1_B_SNP1-245653475-0_T_R_1616841855 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586912G>A;NG_007509.2:g.12438G>A;NM_001079821.2:c.404-237G>A;NM_001127461.2:c.404-237G>A;NM_001127462.2:c.404-237G>A;NM_001243133.1:c.398-237G>A;NM_004895.4:c.404-237G>A;NM_183395.2:c.404-237G>A 454808116 182904862 20101123_snps_975346_chr1_247586912 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 6810140 4925651 NT_031730.6_375140 5.31e-02 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 9868765 4925651 chr1.NT_004536.14_1586472 5.31e-02 2003.06.28 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 16442631 4925651 CSHL-HuAA-200402.chr1.NT_004836.15_12250284 5.31e-02 2004.02.17 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 20609399 4925651 WGSA-200403-chr1.chr1.NT_004836.15_12250284 5.31e-02 2004.03.18 2004.03.18 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 23275957 4925651 afd3991305 5.31e-02 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 44046172 4925651 hCV27872297 5.31e-02 2005.07.18 2006.11.03 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 75165842 4925651 ILMN_Human_1M_rs4925651 5.31e-02 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 78437775 4925651 Cor12878_SNV_20070510.chr1_243912961 5.31e-02 2007.10.19 2007.10.19 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 83369990 4925651 Cor18555_SNV_20070510.chr1_243912961 5.31e-02 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 83681382 4925651 Cor18956_SNV_20070510.chr1_243912961 5.31e-02 2007.12.05 2007.12.05 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 84152611 4925651 Cor19240_SNV_20070510.chr1_243912961 5.31e-02 2007.12.06 2007.12.06 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 85559566 4925651 Cor19129_SNV_20070510.chr1_243912961 5.31e-02 2007.12.09 2007.12.09 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 85712095 4925651 Cor18517_SNV_20070510.chr1_243912961 5.31e-02 2007.12.10 2007.12.10 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 88051226 4925651 JWB-0217781 5.31e-02 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 98020133 4925651 1103675395117 5.31e-02 2008.03.30 2008.03.30 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 106647969 4925651 BGI_rs4925651 5.31e-02 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 109136460 4925651 CEU.trio.12.15.2008_293416_chr1_245653543 5.31e-02 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 112114357 4925651 NA19240_2008_12_16_266110_chr1_245653543 5.31e-02 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 119287725 4925651 NA18507_000265587_NCBI36.1_chr1_245653543 5.31e-02 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 119494539 4925651 KHS1656786 5.31e-02 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 138194238 4925651 ENSSNP6191806 5.31e-02 2009.05.17 2009.05.17 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 138997950 4925651 ENSSNP197674 5.31e-02 2009.05.18 2009.10.16 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 156563845 4925651 GMI_SNP_71538620 5.31e-02 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 165636049 4925651 NA19240_36_chr1_245653543 5.31e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 165961886 4925651 NA07022_36_chr1_245653543 5.31e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 167597148 4925651 NA20431_36_chr1_245653543 5.31e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 173877309 4925651 Human1M-Duov3_B_rs4925651-128_T_R_1514143507 5.31e-02 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 199903804 4925651 BUSHMAN-chr1-245653542 5.31e-02 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 205072017 4925651 BCM_CMT_1011-16831 5.31e-02 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 219005627 4925651 pilot_1_YRI_815310_chr1_245653543 5.31e-02 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 230995436 4925651 pilot_1_CEU_600065_chr1_245653543 5.31e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 253948942 4925651 SNP242647_1_245653543 5.31e-02 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 276310498 4925651 GMI_AK_SNP_630665 5.31e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 290789430 4925651 SNP_295788_chr1_245653543 5.31e-02 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 482298370 4925651 HumanOmni2.5-4v1_B_SNP1-245653543-0_T_R_1631733266 5.31e-02 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247586920T>G;NG_007509.2:g.12446T>G;NM_001079821.2:c.404-229T>G;NM_001127461.2:c.404-229T>G;NM_001127462.2:c.404-229T>G;NM_001243133.1:c.398-229T>G;NM_004895.4:c.404-229T>G;NM_183395.2:c.404-229T>G 483293449 4925651 HumanOmni2.5-4v1_D_kgp4096346-0_T_R_1821421303 5.31e-02 2012.02.02 2012.02.02 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247586961G>T;NG_007509.2:g.12487G>T;NM_001079821.2:c.404-188G>T;NM_001127461.2:c.404-188G>T;NM_001127462.2:c.404-188G>T;NM_001243133.1:c.398-188G>T;NM_004895.4:c.404-188G>T;NM_183395.2:c.404-188G>T 454808117 186867948 20101123_snps_975347_chr1_247586961 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GEH 114548 NM_001079821.2:c.404-85C>T NC_000001.10:g.247587064C>T;NG_007509.2:g.12590C>T;NM_001079821.2:c.404-85C>T;NM_001127461.2:c.404-85C>T;NM_001127462.2:c.404-85C>T;NM_001243133.1:c.398-85C>T;NM_004895.4:c.404-85C>T;NM_183395.2:c.404-85C>T 506396360 199475732 NLRP3:4968 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 YUSUKE 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 4992659 3806266 IMS-JST165518 2.47e-02 2002.08.12 2003.11.22 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 75133737 3806266 ILMN_Human_1M_rs3806266 2.47e-02 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 119464220 3806266 KHS1626467 2.47e-02 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 173647188 3806266 Human1M-Duov3_B_rs3806266-128_T_F_1514104424 2.47e-02 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 238590417 3806266 pilot_1_CHB+JPT_475494_chr1_245653688 2.47e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 244297505 3806266 CVDSNP55v1_A_rs3806266 2.47e-02 2010.06.10 2010.06.10 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247587065G>A;NG_007509.2:g.12591G>A;NM_001079821.2:c.404-84G>A;NM_001127461.2:c.404-84G>A;NM_001127462.2:c.404-84G>A;NM_001243133.1:c.398-84G>A;NM_004895.4:c.404-84G>A;NM_183395.2:c.404-84G>A 276310499 3806266 GMI_AK_SNP_630666 2.47e-02 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 UMAI 114548 NM_001243133.1:c.398-56C>T NC_000001.10:g.247587093C>T;NG_007509.2:g.12619C>T;NM_001079821.2:c.404-56C>T;NM_001127461.2:c.404-56C>T;NM_001127462.2:c.404-56C>T;NM_001243133.1:c.398-56C>T;NM_004895.4:c.404-56C>T;NM_183395.2:c.404-56C>T 469341481 180177455 363 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247587099T>G;NG_007509.2:g.12625T>G;NM_001079821.2:c.404-50T>G;NM_001127461.2:c.404-50T>G;NM_001127462.2:c.404-50T>G;NM_001243133.1:c.398-50T>G;NM_004895.4:c.404-50T>G;NM_183395.2:c.404-50T>G 491238097 200206657 chr1_245653722 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587110T>C;NG_007509.2:g.12636T>C;NM_001079821.2:c.404-39T>C;NM_001127461.2:c.404-39T>C;NM_001127462.2:c.404-39T>C;NM_001243133.1:c.398-39T>C;NM_004895.4:c.404-39T>C;NM_183395.2:c.404-39T>C 491238098 201477265 chr1_245653733 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587118C>T;NG_007509.2:g.12644C>T;NM_001079821.2:c.404-31C>T;NM_001127461.2:c.404-31C>T;NM_001127462.2:c.404-31C>T;NM_001243133.1:c.398-31C>T;NM_004895.4:c.404-31C>T;NM_183395.2:c.404-31C>T 491238099 199632094 chr1_245653741 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587134C>T;NG_007509.2:g.12660C>T;NM_001079821.2:c.404-15C>T;NM_001127461.2:c.404-15C>T;NM_001127462.2:c.404-15C>T;NM_001243133.1:c.398-15C>T;NM_004895.4:c.404-15C>T;NM_183395.2:c.404-15C>T 491238100 200906786 chr1_245653757 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247587144C>T;NG_007509.2:g.12670C>T;NM_001079821.2:c.404-5C>T;NM_001127461.2:c.404-5C>T;NM_001127462.2:c.404-5C>T;NM_001243133.1:c.398-5C>T;NM_004895.4:c.404-5C>T;NM_183395.2:c.404-5C>T 488705551 200459664 20110521_exome_29252_chr1_247587144 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587154C>T;NG_007509.2:g.12680C>T;NM_001079821.2:c.409C>T;NM_001127461.2:c.409C>T;NM_001127462.2:c.409C>T;NM_001243133.1:c.403C>T;NM_004895.4:c.409C>T;NM_183395.2:c.409C>T;NP_001073289.1:p.Arg137Cys;NP_001120933.1:p.Arg137Cys;NP_001120934.1:p.Arg137Cys;NP_001230062.1:p.Arg135Cys;NP_004886.3:p.Arg137Cys;NP_899632.1:p.Arg137Cys 491238101 201525433 chr1_245653777 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247587155G>A;NG_007509.2:g.12681G>A;NM_001079821.2:c.410G>A;NM_001127461.2:c.410G>A;NM_001127462.2:c.410G>A;NM_001243133.1:c.404G>A;NM_004895.4:c.410G>A;NM_183395.2:c.410G>A;NP_001073289.1:p.Arg137His;NP_001120933.1:p.Arg137His;NP_001120934.1:p.Arg137His;NP_001230062.1:p.Arg135His;NP_004886.3:p.Arg137His;NP_899632.1:p.Arg137His 342040832 138946894 ESP2500-chr1-247587155 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587155G>A;NG_007509.2:g.12681G>A;NM_001079821.2:c.410G>A;NM_001127461.2:c.410G>A;NM_001127462.2:c.410G>A;NM_001243133.1:c.404G>A;NM_004895.4:c.410G>A;NM_183395.2:c.410G>A;NP_001073289.1:p.Arg137His;NP_001120933.1:p.Arg137His;NP_001120934.1:p.Arg137His;NP_001230062.1:p.Arg135His;NP_004886.3:p.Arg137His;NP_899632.1:p.Arg137His 491238102 138946894 chr1_245653778 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247587155G>A;NG_007509.2:g.12681G>A;NM_001079821.2:c.410G>A;NM_001127461.2:c.410G>A;NM_001127462.2:c.410G>A;NM_001243133.1:c.404G>A;NM_004895.4:c.410G>A;NM_183395.2:c.410G>A;NP_001073289.1:p.Arg137His;NP_001120933.1:p.Arg137His;NP_001120934.1:p.Arg137His;NP_001230062.1:p.Arg135His;NP_004886.3:p.Arg137His;NP_899632.1:p.Arg137His 491313829 138946894 nonsyn_30056_chr_1_247587155 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 HGSV 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 85248171 56710146 Cor19240_SNV_20070510.chr1_243913215 6.00e-03 2007.12.08 2007.12.08 2007.12.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 112114365 56710146 NA19240_2008_12_16_266111_chr1_245653797 6.00e-03 2008.12.17 2008.12.17 2007.12.14 2012.11.28 137 SEATTLESEQ 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 159701081 56710146 NLRP3-245653797 6.00e-03 2009.07.10 2009.07.10 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 165636058 56710146 NA19240_36_chr1_245653797 6.00e-03 2009.09.30 2009.09.30 2007.12.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 219005628 56710146 pilot_1_YRI_815311_chr1_245653797 6.00e-03 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 342040834 56710146 ESP2500-chr1-247587174 6.00e-03 2011.03.26 2011.03.26 2007.12.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 489800484 56710146 20110521_exome_333965_chr1_247587174 6.00e-03 2012.02.15 2012.02.21 2007.12.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587174C>T;NG_007509.2:g.12700C>T;NM_001079821.2:c.429C>T;NM_001127461.2:c.429C>T;NM_001127462.2:c.429C>T;NM_001243133.1:c.423C>T;NM_004895.4:c.429C>T;NM_183395.2:c.429C>T;NP_001073289.1:p.Tyr143=;NP_001120933.1:p.Tyr143=;NP_001120934.1:p.Tyr143=;NP_001230062.1:p.Tyr141=;NP_004886.3:p.Tyr143=;NP_899632.1:p.Tyr143= 491238103 56710146 chr1_245653797 6.00e-03 2012.03.02 2012.03.02 2007.12.14 2012.11.28 137 UMAI 114548 NM_001243133.1:c.443G>A NC_000001.10:g.247587194G>A;NG_007509.2:g.12720G>A;NM_001079821.2:c.449G>A;NM_001127461.2:c.449G>A;NM_001127462.2:c.449G>A;NM_001243133.1:c.443G>A;NM_004895.4:c.449G>A;NM_183395.2:c.449G>A;NP_001073289.1:p.Cys150Tyr;NP_001120933.1:p.Cys150Tyr;NP_001120934.1:p.Cys150Tyr;NP_001230062.1:p.Cys148Tyr;NP_004886.3:p.Cys150Tyr;NP_899632.1:p.Cys150Tyr 469341509 180177487 644 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587197T>C;NG_007509.2:g.12723T>C;NM_001079821.2:c.452T>C;NM_001127461.2:c.452T>C;NM_001127462.2:c.452T>C;NM_001243133.1:c.446T>C;NM_004895.4:c.452T>C;NM_183395.2:c.452T>C;NP_001073289.1:p.Ile151Thr;NP_001120933.1:p.Ile151Thr;NP_001120934.1:p.Ile151Thr;NP_001230062.1:p.Ile149Thr;NP_004886.3:p.Ile151Thr;NP_899632.1:p.Ile151Thr 491238104 201768649 chr1_245653820 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587239A>G;NG_007509.2:g.12765A>G;NM_001079821.2:c.494A>G;NM_001127461.2:c.494A>G;NM_001127462.2:c.494A>G;NM_001243133.1:c.488A>G;NM_004895.4:c.494A>G;NM_183395.2:c.494A>G;NP_001073289.1:p.Asn165Ser;NP_001120933.1:p.Asn165Ser;NP_001120934.1:p.Asn165Ser;NP_001230062.1:p.Asn163Ser;NP_004886.3:p.Asn165Ser;NP_899632.1:p.Asn165Ser 491238105 199475733 chr1_245653862 germline untested 2012.03.02 2012.03.02 2012.04.03 2012.11.28 137 GEH 114548 NM_001079821.2:c.494A>G NC_000001.10:g.247587239A>G;NG_007509.2:g.12765A>G;NM_001079821.2:c.494A>G;NM_001127461.2:c.494A>G;NM_001127462.2:c.494A>G;NM_001243133.1:c.488A>G;NM_004895.4:c.494A>G;NM_183395.2:c.494A>G;NP_001073289.1:p.Asn165Ser;NP_001120933.1:p.Asn165Ser;NP_001120934.1:p.Asn165Ser;NP_001230062.1:p.Asn163Ser;NP_004886.3:p.Asn165Ser;NP_899632.1:p.Asn165Ser 506396362 199475733 NLRP3:5143 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587244C>T;NG_007509.2:g.12770C>T;NM_001079821.2:c.499C>T;NM_001127461.2:c.499C>T;NM_001127462.2:c.499C>T;NM_001243133.1:c.493C>T;NM_004895.4:c.499C>T;NM_183395.2:c.499C>T;NP_001073289.1:p.Arg167Cys;NP_001120933.1:p.Arg167Cys;NP_001120934.1:p.Arg167Cys;NP_001230062.1:p.Arg165Cys;NP_004886.3:p.Arg167Cys;NP_899632.1:p.Arg167Cys 342040836 141906483 ESP2500-chr1-247587244 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 UMAI 114548 NM_001243133.1:c.503G>A NC_000001.10:g.247587254G>A;NG_007509.2:g.12780G>A;NM_001079821.2:c.509G>A;NM_001127461.2:c.509G>A;NM_001127462.2:c.509G>A;NM_001243133.1:c.503G>A;NM_004895.4:c.509G>A;NM_183395.2:c.509G>A;NP_001073289.1:p.Arg170Gln;NP_001120933.1:p.Arg170Gln;NP_001120934.1:p.Arg170Gln;NP_001230062.1:p.Arg168Gln;NP_004886.3:p.Arg170Gln;NP_899632.1:p.Arg170Gln 469341488 180177464 457 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587261T>A;NG_007509.2:g.12787T>A;NM_001079821.2:c.516T>A;NM_001127461.2:c.516T>A;NM_001127462.2:c.516T>A;NM_001243133.1:c.510T>A;NM_004895.4:c.516T>A;NM_183395.2:c.516T>A;NP_001073289.1:p.Arg172=;NP_001120933.1:p.Arg172=;NP_001120934.1:p.Arg172=;NP_001230062.1:p.Arg170=;NP_004886.3:p.Arg172=;NP_899632.1:p.Arg172= 491238106 200903642 chr1_245653884 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.515T>C NC_000001.10:g.247587266T>C;NG_007509.2:g.12792T>C;NM_001079821.2:c.521T>C;NM_001127461.2:c.521T>C;NM_001127462.2:c.521T>C;NM_001243133.1:c.515T>C;NM_004895.4:c.521T>C;NM_183395.2:c.521T>C;NP_001073289.1:p.Ile174Thr;NP_001120933.1:p.Ile174Thr;NP_001120934.1:p.Ile174Thr;NP_001230062.1:p.Ile172Thr;NP_004886.3:p.Ile174Thr;NP_899632.1:p.Ile174Thr 469341477 180177449 325 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587277C>T;NG_007509.2:g.12803C>T;NM_001079821.2:c.532C>T;NM_001127461.2:c.532C>T;NM_001127462.2:c.532C>T;NM_001243133.1:c.526C>T;NM_004895.4:c.532C>T;NM_183395.2:c.532C>T;NP_001073289.1:p.Arg178Trp;NP_001120933.1:p.Arg178Trp;NP_001120934.1:p.Arg178Trp;NP_001230062.1:p.Arg176Trp;NP_004886.3:p.Arg178Trp;NP_899632.1:p.Arg178Trp 491238107 201867990 chr1_245653900 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247587279G>A;NG_007509.2:g.12805G>A;NM_001079821.2:c.534G>A;NM_001127461.2:c.534G>A;NM_001127462.2:c.534G>A;NM_001243133.1:c.528G>A;NM_004895.4:c.534G>A;NM_183395.2:c.534G>A;NP_001073289.1:p.Arg178=;NP_001120933.1:p.Arg178=;NP_001120934.1:p.Arg178=;NP_001230062.1:p.Arg176=;NP_004886.3:p.Arg178=;NP_899632.1:p.Arg178= 342040838 145959945 ESP2500-chr1-247587279 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587279G>A;NG_007509.2:g.12805G>A;NM_001079821.2:c.534G>A;NM_001127461.2:c.534G>A;NM_001127462.2:c.534G>A;NM_001243133.1:c.528G>A;NM_004895.4:c.534G>A;NM_183395.2:c.534G>A;NP_001073289.1:p.Arg178=;NP_001120933.1:p.Arg178=;NP_001120934.1:p.Arg178=;NP_001230062.1:p.Arg176=;NP_004886.3:p.Arg178=;NP_899632.1:p.Arg178= 488705553 145959945 20110521_exome_29253_chr1_247587279 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587288G>A;NG_007509.2:g.12814G>A;NM_001079821.2:c.543G>A;NM_001127461.2:c.543G>A;NM_001127462.2:c.543G>A;NM_001243133.1:c.537G>A;NM_004895.4:c.543G>A;NM_183395.2:c.543G>A;NP_001073289.1:p.Gln181=;NP_001120933.1:p.Gln181=;NP_001120934.1:p.Gln181=;NP_001230062.1:p.Gln179=;NP_004886.3:p.Gln181=;NP_899632.1:p.Gln181= 491238108 199966373 chr1_245653911 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247587315C>A;NC_000001.10:g.247587315C>T;NG_007509.2:g.12841C>A;NG_007509.2:g.12841C>T;NM_001079821.2:c.570C>A;NM_001079821.2:c.570C>T;NM_001127461.2:c.570C>A;NM_001127461.2:c.570C>T;NM_001127462.2:c.570C>A;NM_001127462.2:c.570C>T;NM_001243133.1:c.564C>A;NM_001243133.1:c.564C>T;NM_004895.4:c.570C>A;NM_004895.4:c.570C>T;NM_183395.2:c.570C>A;NM_183395.2:c.570C>T;NP_001073289.1:p.Ile190=;NP_001120933.1:p.Ile190=;NP_001120934.1:p.Ile190=;NP_001230062.1:p.Ile188=;NP_004886.3:p.Ile190=;NP_899632.1:p.Ile190= 342040840 147631017 ESP2500-chr1-247587315 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587315C>A;NC_000001.10:g.247587315C>T;NG_007509.2:g.12841C>A;NG_007509.2:g.12841C>T;NM_001079821.2:c.570C>A;NM_001079821.2:c.570C>T;NM_001127461.2:c.570C>A;NM_001127461.2:c.570C>T;NM_001127462.2:c.570C>A;NM_001127462.2:c.570C>T;NM_001243133.1:c.564C>A;NM_001243133.1:c.564C>T;NM_004895.4:c.570C>A;NM_004895.4:c.570C>T;NM_183395.2:c.570C>A;NM_183395.2:c.570C>T;NP_001073289.1:p.Ile190=;NP_001120933.1:p.Ile190=;NP_001120934.1:p.Ile190=;NP_001230062.1:p.Ile188=;NP_004886.3:p.Ile190=;NP_899632.1:p.Ile190= 491238109 147631017 chr1_245653938 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587316G>A;NG_007509.2:g.12842G>A;NM_001079821.2:c.571G>A;NM_001127461.2:c.571G>A;NM_001127462.2:c.571G>A;NM_001243133.1:c.565G>A;NM_004895.4:c.571G>A;NM_183395.2:c.571G>A;NP_001073289.1:p.Gly191Ser;NP_001120933.1:p.Gly191Ser;NP_001120934.1:p.Gly191Ser;NP_001230062.1:p.Gly189Ser;NP_004886.3:p.Gly191Ser;NP_899632.1:p.Gly191Ser 491238110 201877163 chr1_245653939 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247587329C>A;NG_007509.2:g.12855C>A;NM_001079821.2:c.584C>A;NM_001127461.2:c.584C>A;NM_001127462.2:c.584C>A;NM_001243133.1:c.578C>A;NM_004895.4:c.584C>A;NM_183395.2:c.584C>A;NP_001073289.1:p.Thr195Lys;NP_001120933.1:p.Thr195Lys;NP_001120934.1:p.Thr195Lys;NP_001230062.1:p.Thr193Lys;NP_004886.3:p.Thr195Lys;NP_899632.1:p.Thr195Lys 238590418 76291085 pilot_1_CHB+JPT_475495_chr1_245653952 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587329C>A;NG_007509.2:g.12855C>A;NM_001079821.2:c.584C>A;NM_001127461.2:c.584C>A;NM_001127462.2:c.584C>A;NM_001243133.1:c.578C>A;NM_004895.4:c.584C>A;NM_183395.2:c.584C>A;NP_001073289.1:p.Thr195Lys;NP_001120933.1:p.Thr195Lys;NP_001120934.1:p.Thr195Lys;NP_001230062.1:p.Thr193Lys;NP_004886.3:p.Thr195Lys;NP_899632.1:p.Thr195Lys 489800486 76291085 20110521_exome_333966_chr1_247587329 5.00e-04 2012.02.15 2012.02.21 2009.12.01 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247587329C>A;NG_007509.2:g.12855C>A;NM_001079821.2:c.584C>A;NM_001127461.2:c.584C>A;NM_001127462.2:c.584C>A;NM_001243133.1:c.578C>A;NM_004895.4:c.584C>A;NM_183395.2:c.584C>A;NP_001073289.1:p.Thr195Lys;NP_001120933.1:p.Thr195Lys;NP_001120934.1:p.Thr195Lys;NP_001230062.1:p.Thr193Lys;NP_004886.3:p.Thr195Lys;NP_899632.1:p.Thr195Lys 491313830 76291085 nonsyn_30057_chr_1_247587329 5.00e-04 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587330G>A;NG_007509.2:g.12856G>A;NM_001079821.2:c.585G>A;NM_001127461.2:c.585G>A;NM_001127462.2:c.585G>A;NM_001243133.1:c.579G>A;NM_004895.4:c.585G>A;NM_183395.2:c.585G>A;NP_001073289.1:p.Thr195=;NP_001120933.1:p.Thr195=;NP_001120934.1:p.Thr195=;NP_001230062.1:p.Thr193=;NP_004886.3:p.Thr195=;NP_899632.1:p.Thr195= 342040842 149659331 ESP2500-chr1-247587330 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 UMAI 114548 NM_001243133.1:c.587G>A NC_000001.10:g.247587338G>A;NG_007509.2:g.12864G>A;NM_001079821.2:c.593G>A;NM_001127461.2:c.593G>A;NM_001127462.2:c.593G>A;NM_001243133.1:c.587G>A;NM_004895.4:c.593G>A;NM_183395.2:c.593G>A;NP_001073289.1:p.Ser198Asn;NP_001120933.1:p.Ser198Asn;NP_001120934.1:p.Ser198Asn;NP_001230062.1:p.Ser196Asn;NP_004886.3:p.Ser198Asn;NP_899632.1:p.Ser198Asn 244254957 180177459 428 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 YUSUKE 114548 NC_000001.10:g.247587342C>T;NG_007509.2:g.12868C>T;NM_001079821.2:c.597C>T;NM_001127461.2:c.597C>T;NM_001127462.2:c.597C>T;NM_001243133.1:c.591C>T;NM_004895.4:c.597C>T;NM_183395.2:c.597C>T;NP_001073289.1:p.Pro199=;NP_001120933.1:p.Pro199=;NP_001120934.1:p.Pro199=;NP_001230062.1:p.Pro197=;NP_004886.3:p.Pro199=;NP_899632.1:p.Pro199= 4992660 3806267 IMS-JST165519 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247587342C>T;NG_007509.2:g.12868C>T;NM_001079821.2:c.597C>T;NM_001127461.2:c.597C>T;NM_001127462.2:c.597C>T;NM_001243133.1:c.591C>T;NM_004895.4:c.597C>T;NM_183395.2:c.597C>T;NP_001073289.1:p.Pro199=;NP_001120933.1:p.Pro199=;NP_001120934.1:p.Pro199=;NP_001230062.1:p.Pro197=;NP_004886.3:p.Pro199=;NP_899632.1:p.Pro199= 86351094 3806267 1329 2008.01.25 2008.01.25 2002.08.28 2012.11.28 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.VAL200MET NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 262857604 121908147 13771 5.00e-03 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 329363758 121908147 20100804_snps_1007294_chr1_247587343 5.00e-03 germline pathogenic 2011.03.22 2011.03.22 2010.09.17 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 342040845 121908147 ESP2500-chr1-247587343 5.00e-03 germline pathogenic 2011.03.26 2011.03.26 2010.09.17 2012.11.28 137 UMAI 114548 NM_001243133.1:c.592G>A NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 469341460 121908147 122 5.00e-03 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 489800488 121908147 20110521_exome_333967_chr1_247587343 5.00e-03 germline pathogenic 2012.02.15 2012.02.21 2010.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 491238111 121908147 chr1_245653966 5.00e-03 germline pathogenic 2012.03.02 2012.03.02 2010.09.17 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 491313831 121908147 nonsyn_30058_chr_1_247587343 5.00e-03 germline pathogenic 2012.03.05 2012.03.05 2010.09.17 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587343G>A;NG_007509.2:g.12869G>A;NM_001079821.2:c.598G>A;NM_001127461.2:c.598G>A;NM_001127462.2:c.598G>A;NM_001243133.1:c.592G>A;NM_004895.4:c.598G>A;NM_183395.2:c.598G>A;NP_001073289.1:p.Val200Met;NP_001120933.1:p.Val200Met;NP_001120934.1:p.Val200Met;NP_001230062.1:p.Val198Met;NP_004886.3:p.Val200Met;NP_899632.1:p.Val200Met 491619235 121908147 SNV-chr1-245653966 5.00e-03 germline pathogenic 2012.03.06 2012.03.12 2010.09.17 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587357G>A;NG_007509.2:g.12883G>A;NM_001079821.2:c.612G>A;NM_001127461.2:c.612G>A;NM_001127462.2:c.612G>A;NM_001243133.1:c.606G>A;NM_004895.4:c.612G>A;NM_183395.2:c.612G>A;NP_001073289.1:p.Lys204=;NP_001120933.1:p.Lys204=;NP_001120934.1:p.Lys204=;NP_001230062.1:p.Lys202=;NP_004886.3:p.Lys204=;NP_899632.1:p.Lys204= 342040846 146606931 ESP2500-chr1-247587357 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587357G>A;NG_007509.2:g.12883G>A;NM_001079821.2:c.612G>A;NM_001127461.2:c.612G>A;NM_001127462.2:c.612G>A;NM_001243133.1:c.606G>A;NM_004895.4:c.612G>A;NM_183395.2:c.612G>A;NP_001073289.1:p.Lys204=;NP_001120933.1:p.Lys204=;NP_001120934.1:p.Lys204=;NP_001230062.1:p.Lys202=;NP_004886.3:p.Lys204=;NP_899632.1:p.Lys204= 491238112 146606931 chr1_245653980 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587369G>T;NG_007509.2:g.12895G>T;NM_001079821.2:c.624G>T;NM_001127461.2:c.624G>T;NM_001127462.2:c.624G>T;NM_001243133.1:c.618G>T;NM_004895.4:c.624G>T;NM_183395.2:c.624G>T;NP_001073289.1:p.Leu208=;NP_001120933.1:p.Leu208=;NP_001120934.1:p.Leu208=;NP_001230062.1:p.Leu206=;NP_004886.3:p.Leu208=;NP_899632.1:p.Leu208= 488705555 201463849 20110521_exome_29254_chr1_247587369 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587387G>A;NG_007509.2:g.12913G>A;NM_001079821.2:c.642G>A;NM_001127461.2:c.642G>A;NM_001127462.2:c.642G>A;NM_001243133.1:c.636G>A;NM_004895.4:c.642G>A;NM_183395.2:c.642G>A;NP_001073289.1:p.Glu214=;NP_001120933.1:p.Glu214=;NP_001120934.1:p.Glu214=;NP_001230062.1:p.Glu212=;NP_004886.3:p.Glu214=;NP_899632.1:p.Glu214= 342040848 145112948 ESP2500-chr1-247587387 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587387G>A;NG_007509.2:g.12913G>A;NM_001079821.2:c.642G>A;NM_001127461.2:c.642G>A;NM_001127462.2:c.642G>A;NM_001243133.1:c.636G>A;NM_004895.4:c.642G>A;NM_183395.2:c.642G>A;NP_001073289.1:p.Glu214=;NP_001120933.1:p.Glu214=;NP_001120934.1:p.Glu214=;NP_001230062.1:p.Glu212=;NP_004886.3:p.Glu214=;NP_899632.1:p.Glu214= 491238113 145112948 chr1_245654010 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587389A>G;NG_007509.2:g.12915A>G;NM_001079821.2:c.644A>G;NM_001127461.2:c.644A>G;NM_001127462.2:c.644A>G;NM_001243133.1:c.638A>G;NM_004895.4:c.644A>G;NM_183395.2:c.644A>G;NP_001073289.1:p.His215Arg;NP_001120933.1:p.His215Arg;NP_001120934.1:p.His215Arg;NP_001230062.1:p.His213Arg;NP_004886.3:p.His215Arg;NP_899632.1:p.His215Arg 342040851 150396172 ESP2500-chr1-247587389 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587389A>G;NG_007509.2:g.12915A>G;NM_001079821.2:c.644A>G;NM_001127461.2:c.644A>G;NM_001127462.2:c.644A>G;NM_001243133.1:c.638A>G;NM_004895.4:c.644A>G;NM_183395.2:c.644A>G;NP_001073289.1:p.His215Arg;NP_001120933.1:p.His215Arg;NP_001120934.1:p.His215Arg;NP_001230062.1:p.His213Arg;NP_004886.3:p.His215Arg;NP_899632.1:p.His215Arg 488705557 150396172 20110521_exome_29255_chr1_247587389 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587389A>G;NG_007509.2:g.12915A>G;NM_001079821.2:c.644A>G;NM_001127461.2:c.644A>G;NM_001127462.2:c.644A>G;NM_001243133.1:c.638A>G;NM_004895.4:c.644A>G;NM_183395.2:c.644A>G;NP_001073289.1:p.His215Arg;NP_001120933.1:p.His215Arg;NP_001120934.1:p.His215Arg;NP_001230062.1:p.His213Arg;NP_004886.3:p.His215Arg;NP_899632.1:p.His215Arg 491238114 150396172 chr1_245654012 5.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247587389A>G;NG_007509.2:g.12915A>G;NM_001079821.2:c.644A>G;NM_001127461.2:c.644A>G;NM_001127462.2:c.644A>G;NM_001243133.1:c.638A>G;NM_004895.4:c.644A>G;NM_183395.2:c.644A>G;NP_001073289.1:p.His215Arg;NP_001120933.1:p.His215Arg;NP_001120934.1:p.His215Arg;NP_001230062.1:p.His213Arg;NP_004886.3:p.His215Arg;NP_899632.1:p.His215Arg 491313832 150396172 nonsyn_30059_chr_1_247587389 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587402G>C;NG_007509.2:g.12928G>C;NM_001079821.2:c.657G>C;NM_001127461.2:c.657G>C;NM_001127462.2:c.657G>C;NM_001243133.1:c.651G>C;NM_004895.4:c.657G>C;NM_183395.2:c.657G>C;NP_001073289.1:p.Val219=;NP_001120933.1:p.Val219=;NP_001120934.1:p.Val219=;NP_001230062.1:p.Val217=;NP_004886.3:p.Val219=;NP_899632.1:p.Val219= 491238115 201584398 chr1_245654025 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 WI_SSAHASNP 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 11369738 7525979 chr1.NT_004536.14_1586960 1.22e-01 2003.07.03 2004.10.30 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 65744037 7525979 Human1-rs7525979 1.22e-01 2006.10.10 2006.10.10 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 74872530 7525979 ILMN_Human_1M_rs7525979 1.22e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 SI_EXO 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 76897220 7525979 NT_004836.17_12345197 1.22e-01 2007.09.20 2007.09.20 2003.07.11 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 86342360 7525979 7953 1.22e-01 2008.01.25 2008.01.25 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 88051229 7525979 JWB-0217782 1.22e-01 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 102842947 7525979 BGI_rs7525979 1.22e-01 2008.06.04 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 112114371 7525979 NA19240_2008_12_16_266112_chr1_245654031 1.22e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 119556214 7525979 KHS1718461 1.22e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 138194239 7525979 ENSSNP6849262 1.22e-01 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 156563852 7525979 GMI_SNP_37516984 1.22e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 SEATTLESEQ 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 159701082 7525979 NLRP3-245654031 1.22e-01 2009.07.10 2009.07.10 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 160884498 7525979 HumanOmni1-Quad_v1-0_B_rs7525979-128_B_F_1513910998 1.22e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 165636067 7525979 NA19240_36_chr1_245654031 1.22e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 174398319 7525979 Human1M-Duov3_B_rs7525979-128_B_F_1513910998 1.22e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 199903808 7525979 BUSHMAN-chr1-245654030 1.22e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 205298668 7525979 BCM_CMT_1011-128676 1.22e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 219005629 7525979 pilot_1_YRI_815312_chr1_245654031 1.22e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 230995437 7525979 pilot_1_CEU_600066_chr1_245654031 1.22e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 238590419 7525979 pilot_1_CHB+JPT_475496_chr1_245654031 1.22e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 276310500 7525979 GMI_AK_SNP_630667 1.22e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 290789431 7525979 SNP_295789_chr1_245654031 1.22e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 342040853 7525979 ESP2500-chr1-247587408 1.22e-01 2011.03.26 2011.03.26 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 410949509 7525979 Cardio-Metabo_Chip_11395247_A_rs7525979 1.22e-01 2011.06.08 2011.06.08 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 481581689 7525979 HumanOmni2.5-4v1_B_rs7525979-128_B_F_1735651169 1.22e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 481611568 7525979 HumanOmniExpress-12v1_C_rs7525979-131_B_F_1857294585 1.22e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 482582427 7525979 HumanOmni1-Quad_v1-0_C_rs7525979-131_B_F_1857294585 1.22e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 485585813 7525979 HumanOmni2.5-4v1_D_rs7525979-131_B_F_1857294585 1.22e-01 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 489800490 7525979 20110521_exome_333968_chr1_247587408 1.22e-01 2012.02.15 2012.02.21 2003.07.11 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 491238116 7525979 chr1_245654031 1.22e-01 2012.03.02 2012.03.02 2003.07.11 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587408C>T;NG_007509.2:g.12934C>T;NM_001079821.2:c.663C>T;NM_001127461.2:c.663C>T;NM_001127462.2:c.663C>T;NM_001243133.1:c.657C>T;NM_004895.4:c.663C>T;NM_183395.2:c.663C>T;NP_001073289.1:p.Thr221=;NP_001120933.1:p.Thr221=;NP_001120934.1:p.Thr221=;NP_001230062.1:p.Thr219=;NP_004886.3:p.Thr221=;NP_899632.1:p.Thr221= 491619236 7525979 SNV-chr1-245654031 1.22e-01 2012.03.06 2012.03.12 2003.07.11 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587423G>T;NG_007509.2:g.12949G>T;NM_001079821.2:c.678G>T;NM_001127461.2:c.678G>T;NM_001127462.2:c.678G>T;NM_001243133.1:c.672G>T;NM_004895.4:c.678G>T;NM_183395.2:c.678G>T;NP_001073289.1:p.Gly226=;NP_001120933.1:p.Gly226=;NP_001120934.1:p.Gly226=;NP_001230062.1:p.Gly224=;NP_004886.3:p.Gly226=;NP_899632.1:p.Gly226= 491238117 200354644 chr1_245654046 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.674C>T NC_000001.10:g.247587425C>T;NG_007509.2:g.12951C>T;NM_001079821.2:c.680C>T;NM_001127461.2:c.680C>T;NM_001127462.2:c.680C>T;NM_001243133.1:c.674C>T;NM_004895.4:c.680C>T;NM_183395.2:c.680C>T;NP_001073289.1:p.Ala227Val;NP_001120933.1:p.Ala227Val;NP_001120934.1:p.Ala227Val;NP_001230062.1:p.Ala225Val;NP_004886.3:p.Ala227Val;NP_899632.1:p.Ala227Val 469341513 180177493 749 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587425C>T;NG_007509.2:g.12951C>T;NM_001079821.2:c.680C>T;NM_001127461.2:c.680C>T;NM_001127462.2:c.680C>T;NM_001243133.1:c.674C>T;NM_004895.4:c.680C>T;NM_183395.2:c.680C>T;NP_001073289.1:p.Ala227Val;NP_001120933.1:p.Ala227Val;NP_001120934.1:p.Ala227Val;NP_001230062.1:p.Ala225Val;NP_004886.3:p.Ala227Val;NP_899632.1:p.Ala227Val 491238118 180177493 chr1_245654048 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247587425C>T;NG_007509.2:g.12951C>T;NM_001079821.2:c.680C>T;NM_001127461.2:c.680C>T;NM_001127462.2:c.680C>T;NM_001243133.1:c.674C>T;NM_004895.4:c.680C>T;NM_183395.2:c.680C>T;NP_001073289.1:p.Ala227Val;NP_001120933.1:p.Ala227Val;NP_001120934.1:p.Ala227Val;NP_001230062.1:p.Ala225Val;NP_004886.3:p.Ala227Val;NP_899632.1:p.Ala227Val 491313833 180177493 nonsyn_30060_chr_1_247587425 untested 2012.03.05 2012.03.05 2011.09.08 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587425C>T;NG_007509.2:g.12951C>T;NM_001079821.2:c.680C>T;NM_001127461.2:c.680C>T;NM_001127462.2:c.680C>T;NM_001243133.1:c.674C>T;NM_004895.4:c.680C>T;NM_183395.2:c.680C>T;NP_001073289.1:p.Ala227Val;NP_001120933.1:p.Ala227Val;NP_001120934.1:p.Ala227Val;NP_001230062.1:p.Ala225Val;NP_004886.3:p.Ala227Val;NP_899632.1:p.Ala227Val 491619237 180177493 SNV-chr1-245654048 untested 2012.03.06 2012.03.12 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.699G>A NC_000001.10:g.247587450G>A;NG_007509.2:g.12976G>A;NM_001079821.2:c.705G>A;NM_001127461.2:c.705G>A;NM_001127462.2:c.705G>A;NM_001243133.1:c.699G>A;NM_004895.4:c.705G>A;NM_183395.2:c.705G>A;NP_001073289.1:p.Leu235=;NP_001120933.1:p.Leu235=;NP_001120934.1:p.Leu235=;NP_001230062.1:p.Leu233=;NP_004886.3:p.Leu235=;NP_899632.1:p.Leu235= 469341516 180177498 831 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587450G>A;NG_007509.2:g.12976G>A;NM_001079821.2:c.705G>A;NM_001127461.2:c.705G>A;NM_001127462.2:c.705G>A;NM_001243133.1:c.699G>A;NM_004895.4:c.705G>A;NM_183395.2:c.705G>A;NP_001073289.1:p.Leu235=;NP_001120933.1:p.Leu235=;NP_001120934.1:p.Leu235=;NP_001230062.1:p.Leu233=;NP_004886.3:p.Leu235=;NP_899632.1:p.Leu235= 491238119 180177498 chr1_245654073 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 YUSUKE 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 4992661 3806268 IMS-JST165520 4.10e-01 2002.08.12 2003.11.22 2002.08.28 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 6810009 3806268 NT_031730.6_375697 4.10e-01 2003.02.14 2006.10.25 2002.08.28 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 16041859 3806268 NT_004836.15_12250841 4.10e-01 2003.11.18 2003.11.22 2002.08.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 20517871 3806268 WGSA-200403-chr1.chr1.NT_004836.15_12250841 4.10e-01 2004.03.18 2004.03.18 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 24325493 3806268 afd3991306 4.10e-01 2004.08.21 2004.09.13 2002.08.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 44127898 3806268 hCV26646014 4.10e-01 2005.07.18 2006.11.03 2002.08.28 2012.11.28 137 SI_EXO 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 61712132 3806268 NT_004836.16_12345266 4.10e-01 2006.07.11 2008.03.31 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 68800564 3806268 PGP03991306 4.10e-01 2007.01.30 2008.03.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 75163367 3806268 ILMN_Human_1M_rs3806268 4.10e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 81872833 3806268 Cor18555_SNV_20070510.chr1_243913518 4.10e-01 2007.12.01 2007.12.01 2002.08.28 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 86342361 3806268 1326 4.10e-01 2008.01.25 2008.01.25 2002.08.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 88051231 3806268 JWB-0217783 4.10e-01 2008.02.27 2008.02.27 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 98020134 3806268 1103675395118 4.10e-01 2008.03.30 2008.03.30 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 102646230 3806268 KHS1106830 4.10e-01 2008.05.21 2008.05.21 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 109136464 3806268 CEU.trio.12.15.2008_293417_chr1_245654100 4.10e-01 2008.12.16 2008.12.16 2002.08.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 138194240 3806268 ENSSNP11747542 4.10e-01 2009.05.17 2009.05.17 2002.08.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 138997947 3806268 ENSSNP197675 4.10e-01 2009.05.18 2009.10.16 2002.08.28 2012.11.28 137 SEATTLESEQ 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 159701083 3806268 NLRP3-245654100 4.10e-01 2009.07.10 2009.07.10 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 160644885 3806268 HumanOmni1-Quad_v1-0_B_rs3806268-126_B_R_1514140543 4.10e-01 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 167597150 3806268 NA20431_36_chr1_245654100 4.10e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 173647189 3806268 Human1M-Duov3_B_rs3806268-126_B_R_1514140543 4.10e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 230995438 3806268 pilot_1_CEU_600067_chr1_245654100 4.10e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 238590420 3806268 pilot_1_CHB+JPT_475497_chr1_245654100 4.10e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 253948945 3806268 SNP242648_1_245654100 4.10e-01 2010.08.19 2010.08.19 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 276310501 3806268 GMI_AK_SNP_630668 4.10e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 290789432 3806268 SNP_295790_chr1_245654100 4.10e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 342040854 3806268 ESP2500-chr1-247587477 4.10e-01 2011.03.26 2011.03.26 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 480843186 3806268 HumanOmni2.5-4v1_B_rs3806268-128_B_R_1767311994 4.10e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 480860228 3806268 HumanOmniExpress-12v1_C_rs3806268-131_B_R_1858002759 4.10e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 481794199 3806268 HumanOmni1-Quad_v1-0_C_rs3806268-131_B_R_1857498336 4.10e-01 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 485216476 3806268 HumanOmni2.5-4v1_D_rs3806268-131_B_R_1858002759 4.10e-01 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 489800492 3806268 20110521_exome_333969_chr1_247587477 4.10e-01 2012.02.15 2012.02.21 2002.08.28 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 491238120 3806268 chr1_245654100 4.10e-01 2012.03.02 2012.03.02 2002.08.28 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587477G>A;NG_007509.2:g.13003G>A;NM_001079821.2:c.732G>A;NM_001127461.2:c.732G>A;NM_001127462.2:c.732G>A;NM_001243133.1:c.726G>A;NM_004895.4:c.732G>A;NM_183395.2:c.732G>A;NP_001073289.1:p.Ala244=;NP_001120933.1:p.Ala244=;NP_001120934.1:p.Ala244=;NP_001230062.1:p.Ala242=;NP_004886.3:p.Ala244=;NP_899632.1:p.Ala244= 491619238 3806268 SNV-chr1-245654100 4.10e-01 2012.03.06 2012.03.12 2002.08.28 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587480G>A;NG_007509.2:g.13006G>A;NM_001079821.2:c.735G>A;NM_001127461.2:c.735G>A;NM_001127462.2:c.735G>A;NM_001243133.1:c.729G>A;NM_004895.4:c.735G>A;NM_183395.2:c.735G>A;NP_001073289.1:p.Ser245=;NP_001120933.1:p.Ser245=;NP_001120934.1:p.Ser245=;NP_001230062.1:p.Ser243=;NP_004886.3:p.Ser245=;NP_899632.1:p.Ser245= 342040857 147198684 ESP2500-chr1-247587480 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 UMAI 114548 NM_001243133.1:c.777T>G NC_000001.10:g.247587528T>G;NG_007509.2:g.13054T>G;NM_001079821.2:c.783T>G;NM_001127461.2:c.783T>G;NM_001127462.2:c.783T>G;NM_001243133.1:c.777T>G;NM_004895.4:c.783T>G;NM_183395.2:c.783T>G;NP_001073289.1:p.Cys261Trp;NP_001120933.1:p.Cys261Trp;NP_001120934.1:p.Cys261Trp;NP_001230062.1:p.Cys259Trp;NP_004886.3:p.Cys261Trp;NP_899632.1:p.Cys261Trp 469341497 180177475 588 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.778C>T NC_000001.10:g.247587529C>T;NG_007509.2:g.13055C>T;NM_001079821.2:c.784C>T;NM_001127461.2:c.784C>T;NM_001127462.2:c.784C>T;NM_001243133.1:c.778C>T;NM_004895.4:c.784C>T;NM_183395.2:c.784C>T;NP_001073289.1:p.Arg262Trp;NP_001120933.1:p.Arg262Trp;NP_001120934.1:p.Arg262Trp;NP_001230062.1:p.Arg260Trp;NP_004886.3:p.Arg262Trp;NP_899632.1:p.Arg262Trp 244254941 121908150 110 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.ARG262TRP NC_000001.10:g.247587529C>T;NG_007509.2:g.13055C>T;NM_001079821.2:c.784C>T;NM_001127461.2:c.784C>T;NM_001127462.2:c.784C>T;NM_001243133.1:c.778C>T;NM_004895.4:c.784C>T;NM_183395.2:c.784C>T;NP_001073289.1:p.Arg262Trp;NP_001120933.1:p.Arg262Trp;NP_001120934.1:p.Arg262Trp;NP_001230062.1:p.Arg260Trp;NP_004886.3:p.Arg262Trp;NP_899632.1:p.Arg262Trp 262857607 121908150 13774 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.779G>T NC_000001.10:g.247587530G>C;NC_000001.10:g.247587530G>T;NG_007509.2:g.13056G>C;NG_007509.2:g.13056G>T;NM_001079821.2:c.785G>C;NM_001079821.2:c.785G>T;NM_001127461.2:c.785G>C;NM_001127461.2:c.785G>T;NM_001127462.2:c.785G>C;NM_001127462.2:c.785G>T;NM_001243133.1:c.779G>C;NM_001243133.1:c.779G>T;NM_004895.4:c.785G>C;NM_004895.4:c.785G>T;NM_183395.2:c.785G>C;NM_183395.2:c.785G>T;NP_001073289.1:p.Arg262Leu;NP_001073289.1:p.Arg262Pro;NP_001120933.1:p.Arg262Leu;NP_001120933.1:p.Arg262Pro;NP_001120934.1:p.Arg262Leu;NP_001120934.1:p.Arg262Pro;NP_001230062.1:p.Arg260Leu;NP_001230062.1:p.Arg260Pro;NP_004886.3:p.Arg262Leu;NP_004886.3:p.Arg262Pro;NP_899632.1:p.Arg262Leu;NP_899632.1:p.Arg262Pro 469341471 180177442 308 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.779G>C NC_000001.10:g.247587530G>C;NC_000001.10:g.247587530G>T;NG_007509.2:g.13056G>C;NG_007509.2:g.13056G>T;NM_001079821.2:c.785G>C;NM_001079821.2:c.785G>T;NM_001127461.2:c.785G>C;NM_001127461.2:c.785G>T;NM_001127462.2:c.785G>C;NM_001127462.2:c.785G>T;NM_001243133.1:c.779G>C;NM_001243133.1:c.779G>T;NM_004895.4:c.785G>C;NM_004895.4:c.785G>T;NM_183395.2:c.785G>C;NM_183395.2:c.785G>T;NP_001073289.1:p.Arg262Leu;NP_001073289.1:p.Arg262Pro;NP_001120933.1:p.Arg262Leu;NP_001120933.1:p.Arg262Pro;NP_001120934.1:p.Arg262Leu;NP_001120934.1:p.Arg262Pro;NP_001230062.1:p.Arg260Leu;NP_001230062.1:p.Arg260Pro;NP_004886.3:p.Arg262Leu;NP_004886.3:p.Arg262Pro;NP_899632.1:p.Arg262Leu;NP_899632.1:p.Arg262Pro 469341472 180177442 309 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587532G>A;NG_007509.2:g.13058G>A;NM_001079821.2:c.787G>A;NM_001127461.2:c.787G>A;NM_001127462.2:c.787G>A;NM_001243133.1:c.781G>A;NM_004895.4:c.787G>A;NM_183395.2:c.787G>A;NP_001073289.1:p.Glu263Lys;NP_001120933.1:p.Glu263Lys;NP_001120934.1:p.Glu263Lys;NP_001230062.1:p.Glu261Lys;NP_004886.3:p.Glu263Lys;NP_899632.1:p.Glu263Lys 342040860 151141479 ESP2500-chr1-247587532 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 UMAI 114548 NM_001243133.1:c.785T>C NC_000001.10:g.247587536T>A;NC_000001.10:g.247587536T>C;NC_000001.10:g.247587536T>G;NG_007509.2:g.13062T>A;NG_007509.2:g.13062T>C;NG_007509.2:g.13062T>G;NM_001079821.2:c.791T>A;NM_001079821.2:c.791T>C;NM_001079821.2:c.791T>G;NM_001127461.2:c.791T>A;NM_001127461.2:c.791T>C;NM_001127461.2:c.791T>G;NM_001127462.2:c.791T>A;NM_001127462.2:c.791T>C;NM_001127462.2:c.791T>G;NM_001243133.1:c.785T>A;NM_001243133.1:c.785T>C;NM_001243133.1:c.785T>G;NM_004895.4:c.791T>A;NM_004895.4:c.791T>C;NM_004895.4:c.791T>G;NM_183395.2:c.791T>A;NM_183395.2:c.791T>C;NM_183395.2:c.791T>G;NP_001073289.1:p.Val264Ala;NP_001073289.1:p.Val264Glu;NP_001073289.1:p.Val264Gly;NP_001120933.1:p.Val264Ala;NP_001120933.1:p.Val264Glu;NP_001120933.1:p.Val264Gly;NP_001120934.1:p.Val264Ala;NP_001120934.1:p.Val264Glu;NP_001120934.1:p.Val264Gly;NP_001230062.1:p.Val262Ala;NP_001230062.1:p.Val262Glu;NP_001230062.1:p.Val262Gly;NP_004886.3:p.Val264Ala;NP_004886.3:p.Val264Glu;NP_004886.3:p.Val264Gly;NP_899632.1:p.Val264Ala;NP_899632.1:p.Val264Glu;NP_899632.1:p.Val264Gly 469341498 104895392 589 2011.09.08 2011.09.08 2010.06.07 2012.11.19 137 UMAI 114548 NM_001243133.1:c.785T>G NC_000001.10:g.247587536T>A;NC_000001.10:g.247587536T>C;NC_000001.10:g.247587536T>G;NG_007509.2:g.13062T>A;NG_007509.2:g.13062T>C;NG_007509.2:g.13062T>G;NM_001079821.2:c.791T>A;NM_001079821.2:c.791T>C;NM_001079821.2:c.791T>G;NM_001127461.2:c.791T>A;NM_001127461.2:c.791T>C;NM_001127461.2:c.791T>G;NM_001127462.2:c.791T>A;NM_001127462.2:c.791T>C;NM_001127462.2:c.791T>G;NM_001243133.1:c.785T>A;NM_001243133.1:c.785T>C;NM_001243133.1:c.785T>G;NM_004895.4:c.791T>A;NM_004895.4:c.791T>C;NM_004895.4:c.791T>G;NM_183395.2:c.791T>A;NM_183395.2:c.791T>C;NM_183395.2:c.791T>G;NP_001073289.1:p.Val264Ala;NP_001073289.1:p.Val264Glu;NP_001073289.1:p.Val264Gly;NP_001120933.1:p.Val264Ala;NP_001120933.1:p.Val264Glu;NP_001120933.1:p.Val264Gly;NP_001120934.1:p.Val264Ala;NP_001120934.1:p.Val264Glu;NP_001120934.1:p.Val264Gly;NP_001230062.1:p.Val262Ala;NP_001230062.1:p.Val262Glu;NP_001230062.1:p.Val262Gly;NP_004886.3:p.Val264Ala;NP_004886.3:p.Val264Glu;NP_004886.3:p.Val264Gly;NP_899632.1:p.Val264Ala;NP_899632.1:p.Val264Glu;NP_899632.1:p.Val264Gly 469341510 104895392 680 2011.09.08 2011.09.08 2010.06.07 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247587540C>T;NG_007509.2:g.13066C>T;NM_001079821.2:c.795C>T;NM_001127461.2:c.795C>T;NM_001127462.2:c.795C>T;NM_001243133.1:c.789C>T;NM_004895.4:c.795C>T;NM_183395.2:c.795C>T;NP_001073289.1:p.Ser265=;NP_001120933.1:p.Ser265=;NP_001120934.1:p.Ser265=;NP_001230062.1:p.Ser263=;NP_004886.3:p.Ser265=;NP_899632.1:p.Ser265= 342040863 146442638 ESP2500-chr1-247587540 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587540C>T;NG_007509.2:g.13066C>T;NM_001079821.2:c.795C>T;NM_001127461.2:c.795C>T;NM_001127462.2:c.795C>T;NM_001243133.1:c.789C>T;NM_004895.4:c.795C>T;NM_183395.2:c.795C>T;NP_001073289.1:p.Ser265=;NP_001120933.1:p.Ser265=;NP_001120934.1:p.Ser265=;NP_001230062.1:p.Ser263=;NP_004886.3:p.Ser265=;NP_899632.1:p.Ser265= 488705559 146442638 20110521_exome_29256_chr1_247587540 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587540C>T;NG_007509.2:g.13066C>T;NM_001079821.2:c.795C>T;NM_001127461.2:c.795C>T;NM_001127462.2:c.795C>T;NM_001243133.1:c.789C>T;NM_004895.4:c.795C>T;NM_183395.2:c.795C>T;NP_001073289.1:p.Ser265=;NP_001120933.1:p.Ser265=;NP_001120934.1:p.Ser265=;NP_001230062.1:p.Ser263=;NP_004886.3:p.Ser265=;NP_899632.1:p.Ser265= 491238122 146442638 chr1_245654163 5.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.790C>T NC_000001.10:g.247587541C>G;NC_000001.10:g.247587541C>T;NG_007509.2:g.13067C>G;NG_007509.2:g.13067C>T;NM_001079821.2:c.796C>G;NM_001079821.2:c.796C>T;NM_001127461.2:c.796C>G;NM_001127461.2:c.796C>T;NM_001127462.2:c.796C>G;NM_001127462.2:c.796C>T;NM_001243133.1:c.790C>G;NM_001243133.1:c.790C>T;NM_004895.4:c.796C>G;NM_004895.4:c.796C>T;NM_183395.2:c.796C>G;NM_183395.2:c.796C>T;NP_001073289.1:p.Leu266Phe;NP_001073289.1:p.Leu266Val;NP_001120933.1:p.Leu266Phe;NP_001120933.1:p.Leu266Val;NP_001120934.1:p.Leu266Phe;NP_001120934.1:p.Leu266Val;NP_001230062.1:p.Leu264Phe;NP_001230062.1:p.Leu264Val;NP_004886.3:p.Leu266Phe;NP_004886.3:p.Leu266Val;NP_899632.1:p.Leu266Phe;NP_899632.1:p.Leu266Val 469341499 180177476 590 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.790C>G NC_000001.10:g.247587541C>G;NC_000001.10:g.247587541C>T;NG_007509.2:g.13067C>G;NG_007509.2:g.13067C>T;NM_001079821.2:c.796C>G;NM_001079821.2:c.796C>T;NM_001127461.2:c.796C>G;NM_001127461.2:c.796C>T;NM_001127462.2:c.796C>G;NM_001127462.2:c.796C>T;NM_001243133.1:c.790C>G;NM_001243133.1:c.790C>T;NM_004895.4:c.796C>G;NM_004895.4:c.796C>T;NM_183395.2:c.796C>G;NM_183395.2:c.796C>T;NP_001073289.1:p.Leu266Phe;NP_001073289.1:p.Leu266Val;NP_001120933.1:p.Leu266Phe;NP_001120933.1:p.Leu266Val;NP_001120934.1:p.Leu266Phe;NP_001120934.1:p.Leu266Val;NP_001230062.1:p.Leu264Phe;NP_001230062.1:p.Leu264Val;NP_004886.3:p.Leu266Phe;NP_004886.3:p.Leu266Val;NP_899632.1:p.Leu266Phe;NP_899632.1:p.Leu266Val 469341501 180177476 597 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.791T>A NC_000001.10:g.247587542T>A;NC_000001.10:g.247587542T>G;NG_007509.2:g.13068T>A;NG_007509.2:g.13068T>G;NM_001079821.2:c.797T>A;NM_001079821.2:c.797T>G;NM_001127461.2:c.797T>A;NM_001127461.2:c.797T>G;NM_001127462.2:c.797T>A;NM_001127462.2:c.797T>G;NM_001243133.1:c.791T>A;NM_001243133.1:c.791T>G;NM_004895.4:c.797T>A;NM_004895.4:c.797T>G;NM_183395.2:c.797T>A;NM_183395.2:c.797T>G;NP_001073289.1:p.Leu266Arg;NP_001073289.1:p.Leu266His;NP_001120933.1:p.Leu266Arg;NP_001120933.1:p.Leu266His;NP_001120934.1:p.Leu266Arg;NP_001120934.1:p.Leu266His;NP_001230062.1:p.Leu264Arg;NP_001230062.1:p.Leu264His;NP_004886.3:p.Leu266Arg;NP_004886.3:p.Leu266His;NP_899632.1:p.Leu266Arg;NP_899632.1:p.Leu266His 244254946 180177436 136 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.791T>G NC_000001.10:g.247587542T>A;NC_000001.10:g.247587542T>G;NG_007509.2:g.13068T>A;NG_007509.2:g.13068T>G;NM_001079821.2:c.797T>A;NM_001079821.2:c.797T>G;NM_001127461.2:c.797T>A;NM_001127461.2:c.797T>G;NM_001127462.2:c.797T>A;NM_001127462.2:c.797T>G;NM_001243133.1:c.791T>A;NM_001243133.1:c.791T>G;NM_004895.4:c.797T>A;NM_004895.4:c.797T>G;NM_183395.2:c.797T>A;NM_183395.2:c.797T>G;NP_001073289.1:p.Leu266Arg;NP_001073289.1:p.Leu266His;NP_001120933.1:p.Leu266Arg;NP_001120933.1:p.Leu266His;NP_001120934.1:p.Leu266Arg;NP_001120934.1:p.Leu266His;NP_001230062.1:p.Leu264Arg;NP_001230062.1:p.Leu264His;NP_004886.3:p.Leu266Arg;NP_004886.3:p.Leu266His;NP_899632.1:p.Leu266Arg;NP_899632.1:p.Leu266His 244254954 180177436 334 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247587582C>G;NG_007509.2:g.13108C>G;NM_001079821.2:c.837C>G;NM_001127461.2:c.837C>G;NM_001127462.2:c.837C>G;NM_001243133.1:c.831C>G;NM_004895.4:c.837C>G;NM_183395.2:c.837C>G;NP_001073289.1:p.Cys279Trp;NP_001120933.1:p.Cys279Trp;NP_001120934.1:p.Cys279Trp;NP_001230062.1:p.Cys277Trp;NP_004886.3:p.Cys279Trp;NP_899632.1:p.Cys279Trp 99306019 71642413 1103675395114 2008.04.03 2008.04.03 2009.02.13 2011.09.09 137 GSK-GENETICS 114548 NC_000001.10:g.247587615C>T;NG_007509.2:g.13141C>T;NM_001079821.2:c.870C>T;NM_001127461.2:c.870C>T;NM_001127462.2:c.870C>T;NM_001243133.1:c.864C>T;NM_004895.4:c.870C>T;NM_183395.2:c.870C>T;NP_001073289.1:p.Ile290=;NP_001120933.1:p.Ile290=;NP_001120934.1:p.Ile290=;NP_001230062.1:p.Ile288=;NP_004886.3:p.Ile290=;NP_899632.1:p.Ile290= 491238123 200900704 chr1_245654238 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247587616G>A;NG_007509.2:g.13142G>A;NM_001079821.2:c.871G>A;NM_001127461.2:c.871G>A;NM_001127462.2:c.871G>A;NM_001243133.1:c.865G>A;NM_004895.4:c.871G>A;NM_183395.2:c.871G>A;NP_001073289.1:p.Val291Met;NP_001120933.1:p.Val291Met;NP_001120934.1:p.Val291Met;NP_001230062.1:p.Val289Met;NP_004886.3:p.Val291Met;NP_899632.1:p.Val291Met 342040865 145092553 ESP2500-chr1-247587616 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247587639C>G;NG_007509.2:g.13165C>G;NM_001079821.2:c.894C>G;NM_001127461.2:c.894C>G;NM_001127462.2:c.894C>G;NM_001243133.1:c.888C>G;NM_004895.4:c.894C>G;NM_183395.2:c.894C>G;NP_001073289.1:p.Leu298=;NP_001120933.1:p.Leu298=;NP_001120934.1:p.Leu298=;NP_001230062.1:p.Leu296=;NP_004886.3:p.Leu298=;NP_899632.1:p.Leu298= 491238124 201885551 chr1_245654262 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.895A>G NC_000001.10:g.247587646A>G;NG_007509.2:g.13172A>G;NM_001079821.2:c.901A>G;NM_001127461.2:c.901A>G;NM_001127462.2:c.901A>G;NM_001243133.1:c.895A>G;NM_004895.4:c.901A>G;NM_183395.2:c.901A>G;NP_001073289.1:p.Met301Val;NP_001120933.1:p.Met301Val;NP_001120934.1:p.Met301Val;NP_001230062.1:p.Met299Val;NP_004886.3:p.Met301Val;NP_899632.1:p.Met301Val 469341514 180177494 750 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587647T>C;NG_007509.2:g.13173T>C;NM_001079821.2:c.902T>C;NM_001127461.2:c.902T>C;NM_001127462.2:c.902T>C;NM_001243133.1:c.896T>C;NM_004895.4:c.902T>C;NM_183395.2:c.902T>C;NP_001073289.1:p.Met301Thr;NP_001120933.1:p.Met301Thr;NP_001120934.1:p.Met301Thr;NP_001230062.1:p.Met299Thr;NP_004886.3:p.Met301Thr;NP_899632.1:p.Met301Thr 491238125 199518805 chr1_245654270 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247587651C>T;NG_007509.2:g.13177C>T;NM_001079821.2:c.906C>T;NM_001127461.2:c.906C>T;NM_001127462.2:c.906C>T;NM_001243133.1:c.900C>T;NM_004895.4:c.906C>T;NM_183395.2:c.906C>T;NP_001073289.1:p.Asp302=;NP_001120933.1:p.Asp302=;NP_001120934.1:p.Asp302=;NP_001230062.1:p.Asp300=;NP_004886.3:p.Asp302=;NP_899632.1:p.Asp302= 342040866 145826369 ESP2500-chr1-247587651 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587651C>T;NG_007509.2:g.13177C>T;NM_001079821.2:c.906C>T;NM_001127461.2:c.906C>T;NM_001127462.2:c.906C>T;NM_001243133.1:c.900C>T;NM_004895.4:c.906C>T;NM_183395.2:c.906C>T;NP_001073289.1:p.Asp302=;NP_001120933.1:p.Asp302=;NP_001120934.1:p.Asp302=;NP_001230062.1:p.Asp300=;NP_004886.3:p.Asp302=;NP_899632.1:p.Asp302= 491238126 145826369 chr1_245654274 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587652G>A;NC_000001.10:g.247587652G>C;NG_007509.2:g.13178G>A;NG_007509.2:g.13178G>C;NM_001079821.2:c.907G>A;NM_001079821.2:c.907G>C;NM_001127461.2:c.907G>A;NM_001127461.2:c.907G>C;NM_001127462.2:c.907G>A;NM_001127462.2:c.907G>C;NM_001243133.1:c.901G>A;NM_001243133.1:c.901G>C;NM_004895.4:c.907G>A;NM_004895.4:c.907G>C;NM_183395.2:c.907G>A;NM_183395.2:c.907G>C;NP_001073289.1:p.Gly303Arg;NP_001073289.1:p.Gly303Ser;NP_001120933.1:p.Gly303Arg;NP_001120933.1:p.Gly303Ser;NP_001120934.1:p.Gly303Arg;NP_001120934.1:p.Gly303Ser;NP_001230062.1:p.Gly301Arg;NP_001230062.1:p.Gly301Ser;NP_004886.3:p.Gly303Arg;NP_004886.3:p.Gly303Ser;NP_899632.1:p.Gly303Arg;NP_899632.1:p.Gly303Ser 491238127 201504984 chr1_245654275 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.902G>A NC_000001.10:g.247587653G>A;NG_007509.2:g.13179G>A;NM_001079821.2:c.908G>A;NM_001127461.2:c.908G>A;NM_001127462.2:c.908G>A;NM_001243133.1:c.902G>A;NM_004895.4:c.908G>A;NM_183395.2:c.908G>A;NP_001073289.1:p.Gly303Asp;NP_001120933.1:p.Gly303Asp;NP_001120934.1:p.Gly303Asp;NP_001230062.1:p.Gly301Asp;NP_004886.3:p.Gly303Asp;NP_899632.1:p.Gly303Asp 469341468 180177441 161 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.907G>A NC_000001.10:g.247587658G>A;NC_000001.10:g.247587658G>C;NG_007509.2:g.13184G>A;NG_007509.2:g.13184G>C;NM_001079821.2:c.913G>A;NM_001079821.2:c.913G>C;NM_001127461.2:c.913G>A;NM_001127461.2:c.913G>C;NM_001127462.2:c.913G>A;NM_001127462.2:c.913G>C;NM_001243133.1:c.907G>A;NM_001243133.1:c.907G>C;NM_004895.4:c.913G>A;NM_004895.4:c.913G>C;NM_183395.2:c.913G>A;NM_183395.2:c.913G>C;NP_001073289.1:p.Asp305Asn;NP_001073289.1:p.Asp305His;NP_001120933.1:p.Asp305Asn;NP_001120933.1:p.Asp305His;NP_001120934.1:p.Asp305Asn;NP_001120934.1:p.Asp305His;NP_001230062.1:p.Asp303Asn;NP_001230062.1:p.Asp303His;NP_004886.3:p.Asp305Asn;NP_004886.3:p.Asp305His;NP_899632.1:p.Asp305Asn;NP_899632.1:p.Asp305His 244254942 121908153 112 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.907G>C NC_000001.10:g.247587658G>A;NC_000001.10:g.247587658G>C;NG_007509.2:g.13184G>A;NG_007509.2:g.13184G>C;NM_001079821.2:c.913G>A;NM_001079821.2:c.913G>C;NM_001127461.2:c.913G>A;NM_001127461.2:c.913G>C;NM_001127462.2:c.913G>A;NM_001127462.2:c.913G>C;NM_001243133.1:c.907G>A;NM_001243133.1:c.907G>C;NM_004895.4:c.913G>A;NM_004895.4:c.913G>C;NM_183395.2:c.913G>A;NM_183395.2:c.913G>C;NP_001073289.1:p.Asp305Asn;NP_001073289.1:p.Asp305His;NP_001120933.1:p.Asp305Asn;NP_001120933.1:p.Asp305His;NP_001120934.1:p.Asp305Asn;NP_001120934.1:p.Asp305His;NP_001230062.1:p.Asp303Asn;NP_001230062.1:p.Asp303His;NP_004886.3:p.Asp305Asn;NP_004886.3:p.Asp305His;NP_899632.1:p.Asp305Asn;NP_899632.1:p.Asp305His 244254961 121908153 581 germline untested 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.ASP305ASN NC_000001.10:g.247587658G>A;NC_000001.10:g.247587658G>C;NG_007509.2:g.13184G>A;NG_007509.2:g.13184G>C;NM_001079821.2:c.913G>A;NM_001079821.2:c.913G>C;NM_001127461.2:c.913G>A;NM_001127461.2:c.913G>C;NM_001127462.2:c.913G>A;NM_001127462.2:c.913G>C;NM_001243133.1:c.907G>A;NM_001243133.1:c.907G>C;NM_004895.4:c.913G>A;NM_004895.4:c.913G>C;NM_183395.2:c.913G>A;NM_183395.2:c.913G>C;NP_001073289.1:p.Asp305Asn;NP_001073289.1:p.Asp305His;NP_001120933.1:p.Asp305Asn;NP_001120933.1:p.Asp305His;NP_001120934.1:p.Asp305Asn;NP_001120934.1:p.Asp305His;NP_001230062.1:p.Asp303Asn;NP_001230062.1:p.Asp303His;NP_004886.3:p.Asp305Asn;NP_004886.3:p.Asp305His;NP_899632.1:p.Asp305Asn;NP_899632.1:p.Asp305His 262857610 121908153 13777 germline untested 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.908A>G NC_000001.10:g.247587659A>G;NG_007509.2:g.13185A>G;NM_001079821.2:c.914A>G;NM_001127461.2:c.914A>G;NM_001127462.2:c.914A>G;NM_001243133.1:c.908A>G;NM_004895.4:c.914A>G;NM_183395.2:c.914A>G;NP_001073289.1:p.Asp305Gly;NP_001120933.1:p.Asp305Gly;NP_001120934.1:p.Asp305Gly;NP_001230062.1:p.Asp303Gly;NP_004886.3:p.Asp305Gly;NP_899632.1:p.Asp305Gly 469341476 180177447 313 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.910G>A NC_000001.10:g.247587661G>A;NG_007509.2:g.13187G>A;NM_001079821.2:c.916G>A;NM_001127461.2:c.916G>A;NM_001127462.2:c.916G>A;NM_001243133.1:c.910G>A;NM_004895.4:c.916G>A;NM_183395.2:c.916G>A;NP_001073289.1:p.Glu306Lys;NP_001120933.1:p.Glu306Lys;NP_001120934.1:p.Glu306Lys;NP_001230062.1:p.Glu304Lys;NP_004886.3:p.Glu306Lys;NP_899632.1:p.Glu306Lys 469341505 180177484 611 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.914T>C NC_000001.10:g.247587665T>C;NG_007509.2:g.13191T>C;NM_001079821.2:c.920T>C;NM_001127461.2:c.920T>C;NM_001127462.2:c.920T>C;NM_001243133.1:c.914T>C;NM_004895.4:c.920T>C;NM_183395.2:c.920T>C;NP_001073289.1:p.Leu307Pro;NP_001120933.1:p.Leu307Pro;NP_001120934.1:p.Leu307Pro;NP_001230062.1:p.Leu305Pro;NP_004886.3:p.Leu307Pro;NP_899632.1:p.Leu307Pro 469341459 180177431 120 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.916C>A NC_000001.10:g.247587667C>A;NC_000001.10:g.247587667C>G;NG_007509.2:g.13193C>A;NG_007509.2:g.13193C>G;NM_001079821.2:c.922C>A;NM_001079821.2:c.922C>G;NM_001127461.2:c.922C>A;NM_001127461.2:c.922C>G;NM_001127462.2:c.922C>A;NM_001127462.2:c.922C>G;NM_001243133.1:c.916C>A;NM_001243133.1:c.916C>G;NM_004895.4:c.922C>A;NM_004895.4:c.922C>G;NM_183395.2:c.922C>A;NM_183395.2:c.922C>G;NP_001073289.1:p.Gln308Glu;NP_001073289.1:p.Gln308Lys;NP_001120933.1:p.Gln308Glu;NP_001120933.1:p.Gln308Lys;NP_001120934.1:p.Gln308Glu;NP_001120934.1:p.Gln308Lys;NP_001230062.1:p.Gln306Glu;NP_001230062.1:p.Gln306Lys;NP_004886.3:p.Gln308Glu;NP_004886.3:p.Gln308Lys;NP_899632.1:p.Gln308Glu;NP_899632.1:p.Gln308Lys 469341461 180177432 124 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.916C>G NC_000001.10:g.247587667C>A;NC_000001.10:g.247587667C>G;NG_007509.2:g.13193C>A;NG_007509.2:g.13193C>G;NM_001079821.2:c.922C>A;NM_001079821.2:c.922C>G;NM_001127461.2:c.922C>A;NM_001127461.2:c.922C>G;NM_001127462.2:c.922C>A;NM_001127462.2:c.922C>G;NM_001243133.1:c.916C>A;NM_001243133.1:c.916C>G;NM_004895.4:c.922C>A;NM_004895.4:c.922C>G;NM_183395.2:c.922C>A;NM_183395.2:c.922C>G;NP_001073289.1:p.Gln308Glu;NP_001073289.1:p.Gln308Lys;NP_001120933.1:p.Gln308Glu;NP_001120933.1:p.Gln308Lys;NP_001120934.1:p.Gln308Glu;NP_001120934.1:p.Gln308Lys;NP_001230062.1:p.Gln306Glu;NP_001230062.1:p.Gln306Lys;NP_004886.3:p.Gln308Glu;NP_004886.3:p.Gln308Lys;NP_899632.1:p.Gln308Glu;NP_899632.1:p.Gln308Lys 469341520 180177432 869 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.920G>T NC_000001.10:g.247587671G>T;NG_007509.2:g.13197G>T;NM_001079821.2:c.926G>T;NM_001127461.2:c.926G>T;NM_001127462.2:c.926G>T;NM_001243133.1:c.920G>T;NM_004895.4:c.926G>T;NM_183395.2:c.926G>T;NP_001073289.1:p.Gly309Val;NP_001120933.1:p.Gly309Val;NP_001120934.1:p.Gly309Val;NP_001230062.1:p.Gly307Val;NP_004886.3:p.Gly309Val;NP_899632.1:p.Gly309Val 469341491 180177468 511 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.PHE311SER NC_000001.10:g.247587677T>C;NG_007509.2:g.13203T>C;NM_001079821.2:c.932T>C;NM_001127461.2:c.932T>C;NM_001127462.2:c.932T>C;NM_001243133.1:c.926T>C;NM_004895.4:c.932T>C;NM_183395.2:c.932T>C;NP_001073289.1:p.Phe311Ser;NP_001120933.1:p.Phe311Ser;NP_001120934.1:p.Phe311Ser;NP_001230062.1:p.Phe309Ser;NP_004886.3:p.Phe311Ser;NP_899632.1:p.Phe311Ser 262857611 121908154 13778 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.11.19 137 UMAI 114548 NM_001243133.1:c.926T>C NC_000001.10:g.247587677T>C;NG_007509.2:g.13203T>C;NM_001079821.2:c.932T>C;NM_001127461.2:c.932T>C;NM_001127462.2:c.932T>C;NM_001243133.1:c.926T>C;NM_004895.4:c.932T>C;NM_183395.2:c.932T>C;NP_001073289.1:p.Phe311Ser;NP_001120933.1:p.Phe311Ser;NP_001120934.1:p.Phe311Ser;NP_001230062.1:p.Phe309Ser;NP_004886.3:p.Phe311Ser;NP_899632.1:p.Phe311Ser 469341464 121908154 128 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.11.19 137 UMAI 114548 NM_001243133.1:c.930C>T NC_000001.10:g.247587681C>T;NG_007509.2:g.13207C>T;NM_001079821.2:c.936C>T;NM_001127461.2:c.936C>T;NM_001127462.2:c.936C>T;NM_001243133.1:c.930C>T;NM_004895.4:c.936C>T;NM_183395.2:c.936C>T;NP_001073289.1:p.Asp312=;NP_001120933.1:p.Asp312=;NP_001120934.1:p.Asp312=;NP_001230062.1:p.Asp310=;NP_004886.3:p.Asp312=;NP_899632.1:p.Asp312= 244254950 143840033 166 5.00e-04 untested 2011.09.08 2011.09.08 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587681C>T;NG_007509.2:g.13207C>T;NM_001079821.2:c.936C>T;NM_001127461.2:c.936C>T;NM_001127462.2:c.936C>T;NM_001243133.1:c.930C>T;NM_004895.4:c.936C>T;NM_183395.2:c.936C>T;NP_001073289.1:p.Asp312=;NP_001120933.1:p.Asp312=;NP_001120934.1:p.Asp312=;NP_001230062.1:p.Asp310=;NP_004886.3:p.Asp312=;NP_899632.1:p.Asp312= 342040868 143840033 ESP2500-chr1-247587681 5.00e-04 untested 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587681C>T;NG_007509.2:g.13207C>T;NM_001079821.2:c.936C>T;NM_001127461.2:c.936C>T;NM_001127462.2:c.936C>T;NM_001243133.1:c.930C>T;NM_004895.4:c.936C>T;NM_183395.2:c.936C>T;NP_001073289.1:p.Asp312=;NP_001120933.1:p.Asp312=;NP_001120934.1:p.Asp312=;NP_001230062.1:p.Asp310=;NP_004886.3:p.Asp312=;NP_899632.1:p.Asp312= 488705561 143840033 20110521_exome_29257_chr1_247587681 5.00e-04 untested 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587681C>T;NG_007509.2:g.13207C>T;NM_001079821.2:c.936C>T;NM_001127461.2:c.936C>T;NM_001127462.2:c.936C>T;NM_001243133.1:c.930C>T;NM_004895.4:c.936C>T;NM_183395.2:c.936C>T;NP_001073289.1:p.Asp312=;NP_001120933.1:p.Asp312=;NP_001120934.1:p.Asp312=;NP_001230062.1:p.Asp310=;NP_004886.3:p.Asp312=;NP_899632.1:p.Asp312= 491238128 143840033 chr1_245654304 5.00e-04 untested 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587681C>T;NG_007509.2:g.13207C>T;NM_001079821.2:c.936C>T;NM_001127461.2:c.936C>T;NM_001127462.2:c.936C>T;NM_001243133.1:c.930C>T;NM_004895.4:c.936C>T;NM_183395.2:c.936C>T;NP_001073289.1:p.Asp312=;NP_001120933.1:p.Asp312=;NP_001120934.1:p.Asp312=;NP_001230062.1:p.Asp310=;NP_004886.3:p.Asp312=;NP_899632.1:p.Asp312= 491619240 143840033 SNV-chr1-245654304 5.00e-04 untested 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.931G>A NC_000001.10:g.247587682G>A;NG_007509.2:g.13208G>A;NM_001079821.2:c.937G>A;NM_001127461.2:c.937G>A;NM_001127462.2:c.937G>A;NM_001243133.1:c.931G>A;NM_004895.4:c.937G>A;NM_183395.2:c.937G>A;NP_001073289.1:p.Glu313Lys;NP_001120933.1:p.Glu313Lys;NP_001120934.1:p.Glu313Lys;NP_001230062.1:p.Glu311Lys;NP_004886.3:p.Glu313Lys;NP_899632.1:p.Glu313Lys 469341492 180177470 513 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.935A>C NC_000001.10:g.247587686A>C;NG_007509.2:g.13212A>C;NM_001079821.2:c.941A>C;NM_001127461.2:c.941A>C;NM_001127462.2:c.941A>C;NM_001243133.1:c.935A>C;NM_004895.4:c.941A>C;NM_183395.2:c.941A>C;NP_001073289.1:p.His314Pro;NP_001120933.1:p.His314Pro;NP_001120934.1:p.His314Pro;NP_001230062.1:p.His312Pro;NP_004886.3:p.His314Pro;NP_899632.1:p.His314Pro 244254965 180177488 647 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.937A>G NC_000001.10:g.247587688A>G;NG_007509.2:g.13214A>G;NM_001079821.2:c.943A>G;NM_001127461.2:c.943A>G;NM_001127462.2:c.943A>G;NM_001243133.1:c.937A>G;NM_004895.4:c.943A>G;NM_183395.2:c.943A>G;NP_001073289.1:p.Ile315Val;NP_001120933.1:p.Ile315Val;NP_001120934.1:p.Ile315Val;NP_001230062.1:p.Ile313Val;NP_004886.3:p.Ile315Val;NP_899632.1:p.Ile315Val 469341519 180177501 854 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587688A>G;NG_007509.2:g.13214A>G;NM_001079821.2:c.943A>G;NM_001127461.2:c.943A>G;NM_001127462.2:c.943A>G;NM_001243133.1:c.937A>G;NM_004895.4:c.943A>G;NM_183395.2:c.943A>G;NP_001073289.1:p.Ile315Val;NP_001120933.1:p.Ile315Val;NP_001120934.1:p.Ile315Val;NP_001230062.1:p.Ile313Val;NP_004886.3:p.Ile315Val;NP_899632.1:p.Ile315Val 491238129 180177501 chr1_245654311 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.944C>T NC_000001.10:g.247587695C>T;NG_007509.2:g.13221C>T;NM_001079821.2:c.950C>T;NM_001127461.2:c.950C>T;NM_001127462.2:c.950C>T;NM_001243133.1:c.944C>T;NM_004895.4:c.950C>T;NM_183395.2:c.950C>T;NP_001073289.1:p.Pro317Leu;NP_001120933.1:p.Pro317Leu;NP_001120934.1:p.Pro317Leu;NP_001230062.1:p.Pro315Leu;NP_004886.3:p.Pro317Leu;NP_899632.1:p.Pro317Leu 469341486 180177462 455 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587695C>T;NG_007509.2:g.13221C>T;NM_001079821.2:c.950C>T;NM_001127461.2:c.950C>T;NM_001127462.2:c.950C>T;NM_001243133.1:c.944C>T;NM_004895.4:c.950C>T;NM_183395.2:c.950C>T;NP_001073289.1:p.Pro317Leu;NP_001120933.1:p.Pro317Leu;NP_001120934.1:p.Pro317Leu;NP_001230062.1:p.Pro315Leu;NP_004886.3:p.Pro317Leu;NP_899632.1:p.Pro317Leu 491238130 180177462 chr1_245654318 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587696G>A;NG_007509.2:g.13222G>A;NM_001079821.2:c.951G>A;NM_001127461.2:c.951G>A;NM_001127462.2:c.951G>A;NM_001243133.1:c.945G>A;NM_004895.4:c.951G>A;NM_183395.2:c.951G>A;NP_001073289.1:p.Pro317=;NP_001120933.1:p.Pro317=;NP_001120934.1:p.Pro317=;NP_001230062.1:p.Pro315=;NP_004886.3:p.Pro317=;NP_899632.1:p.Pro317= 491238131 199961191 chr1_245654319 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587720C>T;NG_007509.2:g.13246C>T;NM_001079821.2:c.975C>T;NM_001127461.2:c.975C>T;NM_001127462.2:c.975C>T;NM_001243133.1:c.969C>T;NM_004895.4:c.975C>T;NM_183395.2:c.975C>T;NP_001073289.1:p.Ala325=;NP_001120933.1:p.Ala325=;NP_001120934.1:p.Ala325=;NP_001230062.1:p.Ala323=;NP_004886.3:p.Ala325=;NP_899632.1:p.Ala325= 491238132 201255971 chr1_245654343 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.973C>T NC_000001.10:g.247587724C>T;NG_007509.2:g.13250C>T;NM_001079821.2:c.979C>T;NM_001127461.2:c.979C>T;NM_001127462.2:c.979C>T;NM_001243133.1:c.973C>T;NM_004895.4:c.979C>T;NM_183395.2:c.979C>T;NP_001073289.1:p.Arg327Trp;NP_001120933.1:p.Arg327Trp;NP_001120934.1:p.Arg327Trp;NP_001230062.1:p.Arg325Trp;NP_004886.3:p.Arg327Trp;NP_899632.1:p.Arg327Trp 469341518 180177500 842 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587724C>T;NG_007509.2:g.13250C>T;NM_001079821.2:c.979C>T;NM_001127461.2:c.979C>T;NM_001127462.2:c.979C>T;NM_001243133.1:c.973C>T;NM_004895.4:c.979C>T;NM_183395.2:c.979C>T;NP_001073289.1:p.Arg327Trp;NP_001120933.1:p.Arg327Trp;NP_001120934.1:p.Arg327Trp;NP_001230062.1:p.Arg325Trp;NP_004886.3:p.Arg327Trp;NP_899632.1:p.Arg327Trp 491238133 180177500 chr1_245654347 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587725G>A;NG_007509.2:g.13251G>A;NM_001079821.2:c.980G>A;NM_001127461.2:c.980G>A;NM_001127462.2:c.980G>A;NM_001243133.1:c.974G>A;NM_004895.4:c.980G>A;NM_183395.2:c.980G>A;NP_001073289.1:p.Arg327Gln;NP_001120933.1:p.Arg327Gln;NP_001120934.1:p.Arg327Gln;NP_001230062.1:p.Arg325Gln;NP_004886.3:p.Arg327Gln;NP_899632.1:p.Arg327Gln 491238134 200158304 chr1_245654348 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.977G>A NC_000001.10:g.247587728G>A;NG_007509.2:g.13254G>A;NM_001079821.2:c.983G>A;NM_001127461.2:c.983G>A;NM_001127462.2:c.983G>A;NM_001243133.1:c.977G>A;NM_004895.4:c.983G>A;NM_183395.2:c.983G>A;NP_001073289.1:p.Gly328Glu;NP_001120933.1:p.Gly328Glu;NP_001120934.1:p.Gly328Glu;NP_001230062.1:p.Gly326Glu;NP_004886.3:p.Gly328Glu;NP_899632.1:p.Gly328Glu 469341482 180177456 406 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587732C>T;NG_007509.2:g.13258C>T;NM_001079821.2:c.987C>T;NM_001127461.2:c.987C>T;NM_001127462.2:c.987C>T;NM_001243133.1:c.981C>T;NM_004895.4:c.987C>T;NM_183395.2:c.987C>T;NP_001073289.1:p.Asp329=;NP_001120933.1:p.Asp329=;NP_001120934.1:p.Asp329=;NP_001230062.1:p.Asp327=;NP_004886.3:p.Asp329=;NP_899632.1:p.Asp329= 491238135 200940726 chr1_245654355 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587736C>G;NG_007509.2:g.13262C>G;NM_001079821.2:c.991C>G;NM_001127461.2:c.991C>G;NM_001127462.2:c.991C>G;NM_001243133.1:c.985C>G;NM_004895.4:c.991C>G;NM_183395.2:c.991C>G;NP_001073289.1:p.Leu331Val;NP_001120933.1:p.Leu331Val;NP_001120934.1:p.Leu331Val;NP_001230062.1:p.Leu329Val;NP_004886.3:p.Leu331Val;NP_899632.1:p.Leu331Val 491238136 202077909 chr1_245654359 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.993C>A NC_000001.10:g.247587744C>A;NG_007509.2:g.13270C>A;NM_001079821.2:c.999C>A;NM_001127461.2:c.999C>A;NM_001127462.2:c.999C>A;NM_001243133.1:c.993C>A;NM_004895.4:c.999C>A;NM_183395.2:c.999C>A;NP_001073289.1:p.Ser333Arg;NP_001120933.1:p.Ser333Arg;NP_001120934.1:p.Ser333Arg;NP_001230062.1:p.Ser331Arg;NP_004886.3:p.Ser333Arg;NP_899632.1:p.Ser333Arg 244254955 180177451 337 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 SI_EXO 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 61713673 41311573 NT_004836.16_12345560 4.10e-03 2006.07.11 2006.08.17 2006.10.18 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 86351093 41311573 1328 4.10e-03 2008.01.25 2008.01.25 2006.10.18 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 165961894 41311573 NA07022_36_chr1_245654394 4.10e-03 2009.09.30 2009.09.30 2006.10.18 2012.11.28 137 GMI 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 276310503 41311573 GMI_AK_SNP_630670 4.10e-03 2010.12.16 2010.12.16 2006.10.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 329363759 41311573 20100804_snps_1007295_chr1_247587771 4.10e-03 2011.03.22 2011.03.22 2006.10.18 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 342040871 41311573 ESP2500-chr1-247587771 4.10e-03 2011.03.26 2011.03.26 2006.10.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 489800496 41311573 20110521_exome_333971_chr1_247587771 4.10e-03 2012.02.15 2012.02.21 2006.10.18 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 491238137 41311573 chr1_245654394 4.10e-03 2012.03.02 2012.03.02 2006.10.18 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587771C>T;NG_007509.2:g.13297C>T;NM_001079821.2:c.1026C>T;NM_001127461.2:c.1026C>T;NM_001127462.2:c.1026C>T;NM_001243133.1:c.1020C>T;NM_004895.4:c.1026C>T;NM_183395.2:c.1026C>T;NP_001073289.1:p.Pro342=;NP_001120933.1:p.Pro342=;NP_001120934.1:p.Pro342=;NP_001230062.1:p.Pro340=;NP_004886.3:p.Pro342=;NP_899632.1:p.Pro342= 491619241 41311573 SNV-chr1-245654394 4.10e-03 2012.03.06 2012.03.12 2006.10.18 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1032G>A NC_000001.10:g.247587783G>A;NG_007509.2:g.13309G>A;NM_001079821.2:c.1038G>A;NM_001127461.2:c.1038G>A;NM_001127462.2:c.1038G>A;NM_001243133.1:c.1032G>A;NM_004895.4:c.1038G>A;NM_183395.2:c.1038G>A;NP_001073289.1:p.Leu346=;NP_001120933.1:p.Leu346=;NP_001120934.1:p.Leu346=;NP_001230062.1:p.Leu344=;NP_004886.3:p.Leu346=;NP_899632.1:p.Leu346= 469341493 180177471 531 9.00e-04 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587783G>A;NG_007509.2:g.13309G>A;NM_001079821.2:c.1038G>A;NM_001127461.2:c.1038G>A;NM_001127462.2:c.1038G>A;NM_001243133.1:c.1032G>A;NM_004895.4:c.1038G>A;NM_183395.2:c.1038G>A;NP_001073289.1:p.Leu346=;NP_001120933.1:p.Leu346=;NP_001120934.1:p.Leu346=;NP_001230062.1:p.Leu344=;NP_004886.3:p.Leu346=;NP_899632.1:p.Leu346= 488705563 180177471 20110521_exome_29258_chr1_247587783 9.00e-04 untested 2012.02.13 2012.02.13 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587783G>A;NG_007509.2:g.13309G>A;NM_001079821.2:c.1038G>A;NM_001127461.2:c.1038G>A;NM_001127462.2:c.1038G>A;NM_001243133.1:c.1032G>A;NM_004895.4:c.1038G>A;NM_183395.2:c.1038G>A;NP_001073289.1:p.Leu346=;NP_001120933.1:p.Leu346=;NP_001120934.1:p.Leu346=;NP_001230062.1:p.Leu344=;NP_004886.3:p.Leu346=;NP_899632.1:p.Leu346= 491238138 180177471 chr1_245654406 9.00e-04 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587783G>A;NG_007509.2:g.13309G>A;NM_001079821.2:c.1038G>A;NM_001127461.2:c.1038G>A;NM_001127462.2:c.1038G>A;NM_001243133.1:c.1032G>A;NM_004895.4:c.1038G>A;NM_183395.2:c.1038G>A;NP_001073289.1:p.Leu346=;NP_001120933.1:p.Leu346=;NP_001120934.1:p.Leu346=;NP_001230062.1:p.Leu344=;NP_004886.3:p.Leu346=;NP_899632.1:p.Leu346= 491619242 180177471 SNV-chr1-245654406 9.00e-04 untested 2012.03.06 2012.03.12 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1043C>T NC_000001.10:g.247587794C>T;NG_007509.2:g.13320C>T;NM_001079821.2:c.1049C>T;NM_001127461.2:c.1049C>T;NM_001127462.2:c.1049C>T;NM_001243133.1:c.1043C>T;NM_004895.4:c.1049C>T;NM_183395.2:c.1049C>T;NP_001073289.1:p.Thr350Met;NP_001120933.1:p.Thr350Met;NP_001120934.1:p.Thr350Met;NP_001230062.1:p.Thr348Met;NP_004886.3:p.Thr350Met;NP_899632.1:p.Thr350Met 411633436 151344629 111 untested 2011.06.17 2011.09.08 2011.06.17 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247587795G>A;NG_007509.2:g.13321G>A;NM_001079821.2:c.1050G>A;NM_001127461.2:c.1050G>A;NM_001127462.2:c.1050G>A;NM_001243133.1:c.1044G>A;NM_004895.4:c.1050G>A;NM_183395.2:c.1050G>A;NP_001073289.1:p.Thr350=;NP_001120933.1:p.Thr350=;NP_001120934.1:p.Thr350=;NP_001230062.1:p.Thr348=;NP_004886.3:p.Thr350=;NP_899632.1:p.Thr350= 342040873 143140947 ESP2500-chr1-247587795 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587795G>A;NG_007509.2:g.13321G>A;NM_001079821.2:c.1050G>A;NM_001127461.2:c.1050G>A;NM_001127462.2:c.1050G>A;NM_001243133.1:c.1044G>A;NM_004895.4:c.1050G>A;NM_183395.2:c.1050G>A;NP_001073289.1:p.Thr350=;NP_001120933.1:p.Thr350=;NP_001120934.1:p.Thr350=;NP_001230062.1:p.Thr348=;NP_004886.3:p.Thr350=;NP_899632.1:p.Thr350= 491238139 143140947 chr1_245654418 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1051G>A NC_000001.10:g.247587802G>A;NC_000001.10:g.247587802G>C;NG_007509.2:g.13328G>A;NG_007509.2:g.13328G>C;NM_001079821.2:c.1057G>A;NM_001079821.2:c.1057G>C;NM_001127461.2:c.1057G>A;NM_001127461.2:c.1057G>C;NM_001127462.2:c.1057G>A;NM_001127462.2:c.1057G>C;NM_001243133.1:c.1051G>A;NM_001243133.1:c.1051G>C;NM_004895.4:c.1057G>A;NM_004895.4:c.1057G>C;NM_183395.2:c.1057G>A;NM_183395.2:c.1057G>C;NP_001073289.1:p.Val353Leu;NP_001073289.1:p.Val353Met;NP_001120933.1:p.Val353Leu;NP_001120933.1:p.Val353Met;NP_001120934.1:p.Val353Leu;NP_001120934.1:p.Val353Met;NP_001230062.1:p.Val351Leu;NP_001230062.1:p.Val351Met;NP_004886.3:p.Val353Leu;NP_004886.3:p.Val353Met;NP_899632.1:p.Val353Leu;NP_899632.1:p.Val353Met 469341487 180177463 456 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1051G>C NC_000001.10:g.247587802G>A;NC_000001.10:g.247587802G>C;NG_007509.2:g.13328G>A;NG_007509.2:g.13328G>C;NM_001079821.2:c.1057G>A;NM_001079821.2:c.1057G>C;NM_001127461.2:c.1057G>A;NM_001127461.2:c.1057G>C;NM_001127462.2:c.1057G>A;NM_001127462.2:c.1057G>C;NM_001243133.1:c.1051G>A;NM_001243133.1:c.1051G>C;NM_004895.4:c.1057G>A;NM_004895.4:c.1057G>C;NM_183395.2:c.1057G>A;NM_183395.2:c.1057G>C;NP_001073289.1:p.Val353Leu;NP_001073289.1:p.Val353Met;NP_001120933.1:p.Val353Leu;NP_001120933.1:p.Val353Met;NP_001120934.1:p.Val353Leu;NP_001120934.1:p.Val353Met;NP_001230062.1:p.Val351Leu;NP_001230062.1:p.Val351Met;NP_004886.3:p.Val353Leu;NP_004886.3:p.Val353Met;NP_899632.1:p.Val353Leu;NP_899632.1:p.Val353Met 469341494 180177463 550 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1054G>A NC_000001.10:g.247587805G>A;NG_007509.2:g.13331G>A;NM_001079821.2:c.1060G>A;NM_001127461.2:c.1060G>A;NM_001127462.2:c.1060G>A;NM_001243133.1:c.1054G>A;NM_004895.4:c.1060G>A;NM_183395.2:c.1060G>A;NP_001073289.1:p.Ala354Thr;NP_001120933.1:p.Ala354Thr;NP_001120934.1:p.Ala354Thr;NP_001230062.1:p.Ala352Thr;NP_004886.3:p.Ala354Thr;NP_899632.1:p.Ala354Thr 469341521 180177503 891 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1055C>T NC_000001.10:g.247587806C>T;NG_007509.2:g.13332C>T;NM_001079821.2:c.1061C>T;NM_001127461.2:c.1061C>T;NM_001127462.2:c.1061C>T;NM_001243133.1:c.1055C>T;NM_004895.4:c.1061C>T;NM_183395.2:c.1061C>T;NP_001073289.1:p.Ala354Val;NP_001120933.1:p.Ala354Val;NP_001120934.1:p.Ala354Val;NP_001230062.1:p.Ala352Val;NP_004886.3:p.Ala354Val;NP_899632.1:p.Ala354Val 244254940 121908149 102 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.ALA354VAL NC_000001.10:g.247587806C>T;NG_007509.2:g.13332C>T;NM_001079821.2:c.1061C>T;NM_001127461.2:c.1061C>T;NM_001127462.2:c.1061C>T;NM_001243133.1:c.1055C>T;NM_004895.4:c.1061C>T;NM_183395.2:c.1061C>T;NP_001073289.1:p.Ala354Val;NP_001120933.1:p.Ala354Val;NP_001120934.1:p.Ala354Val;NP_001230062.1:p.Ala352Val;NP_004886.3:p.Ala354Val;NP_899632.1:p.Ala354Val 262857606 121908149 13773 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1058T>C NC_000001.10:g.247587809T>C;NG_007509.2:g.13335T>C;NM_001079821.2:c.1064T>C;NM_001127461.2:c.1064T>C;NM_001127462.2:c.1064T>C;NM_001243133.1:c.1058T>C;NM_004895.4:c.1064T>C;NM_183395.2:c.1064T>C;NP_001073289.1:p.Leu355Pro;NP_001120933.1:p.Leu355Pro;NP_001120934.1:p.Leu355Pro;NP_001230062.1:p.Leu353Pro;NP_004886.3:p.Leu355Pro;NP_899632.1:p.Leu355Pro 244254949 28937896 142 germline pathogenic 2011.09.08 2011.09.08 2005.05.24 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.LEU355PRO NC_000001.10:g.247587809T>C;NG_007509.2:g.13335T>C;NM_001079821.2:c.1064T>C;NM_001127461.2:c.1064T>C;NM_001127462.2:c.1064T>C;NM_001243133.1:c.1058T>C;NM_004895.4:c.1064T>C;NM_183395.2:c.1064T>C;NP_001073289.1:p.Leu355Pro;NP_001120933.1:p.Leu355Pro;NP_001120934.1:p.Leu355Pro;NP_001230062.1:p.Leu353Pro;NP_004886.3:p.Leu355Pro;NP_899632.1:p.Leu355Pro 262857612 28937896 13779 germline pathogenic 2010.09.17 2010.09.17 2005.05.24 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1062G>T NC_000001.10:g.247587813G>T;NG_007509.2:g.13339G>T;NM_001079821.2:c.1068G>T;NM_001127461.2:c.1068G>T;NM_001127462.2:c.1068G>T;NM_001243133.1:c.1062G>T;NM_004895.4:c.1068G>T;NM_183395.2:c.1068G>T;NP_001073289.1:p.Glu356Asp;NP_001120933.1:p.Glu356Asp;NP_001120934.1:p.Glu356Asp;NP_001230062.1:p.Glu354Asp;NP_004886.3:p.Glu356Asp;NP_899632.1:p.Glu356Asp 469341473 180177444 310 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1073A>G NC_000001.10:g.247587824A>G;NG_007509.2:g.13350A>G;NM_001079821.2:c.1079A>G;NM_001127461.2:c.1079A>G;NM_001127462.2:c.1079A>G;NM_001243133.1:c.1073A>G;NM_004895.4:c.1079A>G;NM_183395.2:c.1079A>G;NP_001073289.1:p.His360Arg;NP_001120933.1:p.His360Arg;NP_001120934.1:p.His360Arg;NP_001230062.1:p.His358Arg;NP_004886.3:p.His360Arg;NP_899632.1:p.His360Arg 469341462 180177434 126 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247587826T>C;NG_007509.2:g.13352T>C;NM_001079821.2:c.1081T>C;NM_001127461.2:c.1081T>C;NM_001127462.2:c.1081T>C;NM_001243133.1:c.1075T>C;NM_004895.4:c.1081T>C;NM_183395.2:c.1081T>C;NP_001073289.1:p.Leu361=;NP_001120933.1:p.Leu361=;NP_001120934.1:p.Leu361=;NP_001230062.1:p.Leu359=;NP_004886.3:p.Leu361=;NP_899632.1:p.Leu361= 491238140 200347299 chr1_245654449 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587830T>A;NG_007509.2:g.13356T>A;NM_001079821.2:c.1085T>A;NM_001127461.2:c.1085T>A;NM_001127462.2:c.1085T>A;NM_001243133.1:c.1079T>A;NM_004895.4:c.1085T>A;NM_183395.2:c.1085T>A;NP_001073289.1:p.Leu362Gln;NP_001120933.1:p.Leu362Gln;NP_001120934.1:p.Leu362Gln;NP_001230062.1:p.Leu360Gln;NP_004886.3:p.Leu362Gln;NP_899632.1:p.Leu362Gln 491238141 201593863 chr1_245654453 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587834C>A;NG_007509.2:g.13360C>A;NM_001079821.2:c.1089C>A;NM_001127461.2:c.1089C>A;NM_001127462.2:c.1089C>A;NM_001243133.1:c.1083C>A;NM_004895.4:c.1089C>A;NM_183395.2:c.1089C>A;NP_001073289.1:p.Asp363Glu;NP_001120933.1:p.Asp363Glu;NP_001120934.1:p.Asp363Glu;NP_001230062.1:p.Asp361Glu;NP_004886.3:p.Asp363Glu;NP_899632.1:p.Asp363Glu 491238142 199725270 chr1_245654457 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247587853A>C;NG_007509.2:g.13379A>C;NM_001079821.2:c.1108A>C;NM_001127461.2:c.1108A>C;NM_001127462.2:c.1108A>C;NM_001243133.1:c.1102A>C;NM_004895.4:c.1108A>C;NM_183395.2:c.1108A>C;NP_001073289.1:p.Ile370Leu;NP_001120933.1:p.Ile370Leu;NP_001120934.1:p.Ile370Leu;NP_001230062.1:p.Ile368Leu;NP_004886.3:p.Ile370Leu;NP_899632.1:p.Ile370Leu 491238143 200735245 chr1_245654476 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 BCMHGSC_JDW 114548 NC_000001.10:g.247587868G>A;NG_007509.2:g.13394G>A;NM_001079821.2:c.1123G>A;NM_001127461.2:c.1123G>A;NM_001127462.2:c.1123G>A;NM_001243133.1:c.1117G>A;NM_004895.4:c.1123G>A;NM_183395.2:c.1123G>A;NP_001073289.1:p.Glu375Lys;NP_001120933.1:p.Glu375Lys;NP_001120934.1:p.Glu375Lys;NP_001230062.1:p.Glu373Lys;NP_004886.3:p.Glu375Lys;NP_899632.1:p.Glu375Lys 88051235 61841179 JWB-2759461 2008.02.27 2008.02.27 2008.03.24 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247587868G>A;NG_007509.2:g.13394G>A;NM_001079821.2:c.1123G>A;NM_001127461.2:c.1123G>A;NM_001127462.2:c.1123G>A;NM_001243133.1:c.1117G>A;NM_004895.4:c.1123G>A;NM_183395.2:c.1123G>A;NP_001073289.1:p.Glu375Lys;NP_001120933.1:p.Glu375Lys;NP_001120934.1:p.Glu375Lys;NP_001230062.1:p.Glu373Lys;NP_004886.3:p.Glu375Lys;NP_899632.1:p.Glu375Lys 138194242 61841179 ENSSNP11747544 2009.05.17 2009.05.17 2008.03.24 2011.09.09 137 NHLBI-ESP 114548 NC_000001.10:g.247587870G>A;NG_007509.2:g.13396G>A;NM_001079821.2:c.1125G>A;NM_001127461.2:c.1125G>A;NM_001127462.2:c.1125G>A;NM_001243133.1:c.1119G>A;NM_004895.4:c.1125G>A;NM_183395.2:c.1125G>A;NP_001073289.1:p.Glu375=;NP_001120933.1:p.Glu375=;NP_001120934.1:p.Glu375=;NP_001230062.1:p.Glu373=;NP_004886.3:p.Glu375=;NP_899632.1:p.Glu375= 342040875 138613962 ESP2500-chr1-247587870 0 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587870G>A;NG_007509.2:g.13396G>A;NM_001079821.2:c.1125G>A;NM_001127461.2:c.1125G>A;NM_001127462.2:c.1125G>A;NM_001243133.1:c.1119G>A;NM_004895.4:c.1125G>A;NM_183395.2:c.1125G>A;NP_001073289.1:p.Glu375=;NP_001120933.1:p.Glu375=;NP_001120934.1:p.Glu375=;NP_001230062.1:p.Glu373=;NP_004886.3:p.Glu375=;NP_899632.1:p.Glu375= 488705565 138613962 20110521_exome_29259_chr1_247587870 0 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587870G>A;NG_007509.2:g.13396G>A;NM_001079821.2:c.1125G>A;NM_001127461.2:c.1125G>A;NM_001127462.2:c.1125G>A;NM_001243133.1:c.1119G>A;NM_004895.4:c.1125G>A;NM_183395.2:c.1125G>A;NP_001073289.1:p.Glu375=;NP_001120933.1:p.Glu375=;NP_001120934.1:p.Glu375=;NP_001230062.1:p.Glu373=;NP_004886.3:p.Glu375=;NP_899632.1:p.Glu375= 491238144 138613962 chr1_245654493 0 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1121C>A NC_000001.10:g.247587872C>A;NG_007509.2:g.13398C>A;NM_001079821.2:c.1127C>A;NM_001127461.2:c.1127C>A;NM_001127462.2:c.1127C>A;NM_001243133.1:c.1121C>A;NM_004895.4:c.1127C>A;NM_183395.2:c.1127C>A;NP_001073289.1:p.Ala376Asp;NP_001120933.1:p.Ala376Asp;NP_001120934.1:p.Ala376Asp;NP_001230062.1:p.Ala374Asp;NP_004886.3:p.Ala376Asp;NP_899632.1:p.Ala376Asp 244254947 180177437 138 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247587904T>G;NG_007509.2:g.13430T>G;NM_001079821.2:c.1159T>G;NM_001127461.2:c.1159T>G;NM_001127462.2:c.1159T>G;NM_001243133.1:c.1153T>G;NM_004895.4:c.1159T>G;NM_183395.2:c.1159T>G;NP_001073289.1:p.Ser387Ala;NP_001120933.1:p.Ser387Ala;NP_001120934.1:p.Ser387Ala;NP_001230062.1:p.Ser385Ala;NP_004886.3:p.Ser387Ala;NP_899632.1:p.Ser387Ala 491238145 199680838 chr1_245654527 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247587951C>T;NG_007509.2:g.13477C>T;NM_001079821.2:c.1206C>T;NM_001127461.2:c.1206C>T;NM_001127462.2:c.1206C>T;NM_001243133.1:c.1200C>T;NM_004895.4:c.1206C>T;NM_183395.2:c.1206C>T;NP_001073289.1:p.Asn402=;NP_001120933.1:p.Asn402=;NP_001120934.1:p.Asn402=;NP_001230062.1:p.Asn400=;NP_004886.3:p.Asn402=;NP_899632.1:p.Asn402= 488705567 202094185 20110521_exome_29260_chr1_247587951 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1213A>C NC_000001.10:g.247587964A>C;NG_007509.2:g.13490A>C;NM_001079821.2:c.1219A>C;NM_001127461.2:c.1219A>C;NM_001127462.2:c.1219A>C;NM_001243133.1:c.1213A>C;NM_004895.4:c.1219A>C;NM_183395.2:c.1219A>C;NP_001073289.1:p.Thr407Pro;NP_001120933.1:p.Thr407Pro;NP_001120934.1:p.Thr407Pro;NP_001230062.1:p.Thr405Pro;NP_004886.3:p.Thr407Pro;NP_899632.1:p.Thr407Pro 469341474 180177445 311 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1218G>C NC_000001.10:g.247587969G>C;NG_007509.2:g.13495G>C;NM_001079821.2:c.1224G>C;NM_001127461.2:c.1224G>C;NM_001127462.2:c.1224G>C;NM_001243133.1:c.1218G>C;NM_004895.4:c.1224G>C;NM_183395.2:c.1224G>C;NP_001073289.1:p.Met408Ile;NP_001120933.1:p.Met408Ile;NP_001120934.1:p.Met408Ile;NP_001230062.1:p.Met406Ile;NP_004886.3:p.Met408Ile;NP_899632.1:p.Met408Ile 469341507 180177486 615 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247587972C>T;NG_007509.2:g.13498C>T;NM_001079821.2:c.1227C>T;NM_001127461.2:c.1227C>T;NM_001127462.2:c.1227C>T;NM_001243133.1:c.1221C>T;NM_004895.4:c.1227C>T;NM_183395.2:c.1227C>T;NP_001073289.1:p.Cys409=;NP_001120933.1:p.Cys409=;NP_001120934.1:p.Cys409=;NP_001230062.1:p.Cys407=;NP_004886.3:p.Cys409=;NP_899632.1:p.Cys409= 342040877 144577477 ESP2500-chr1-247587972 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247587977T>A;NG_007509.2:g.13503T>A;NM_001079821.2:c.1232T>A;NM_001127461.2:c.1232T>A;NM_001127462.2:c.1232T>A;NM_001243133.1:c.1226T>A;NM_004895.4:c.1232T>A;NM_183395.2:c.1232T>A;NP_001073289.1:p.Ile411Asn;NP_001120933.1:p.Ile411Asn;NP_001120934.1:p.Ile411Asn;NP_001230062.1:p.Ile409Asn;NP_004886.3:p.Ile411Asn;NP_899632.1:p.Ile411Asn 491238146 200622758 chr1_245654600 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 329363761 148478875 20100804_snps_1007297_chr1_247587982 4.60e-03 untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 342040879 148478875 ESP2500-chr1-247587982 4.60e-03 untested 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1231C>T NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 469341470 148478875 253 4.60e-03 untested 2011.09.08 2011.09.08 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 489800498 148478875 20110521_exome_333972_chr1_247587982 4.60e-03 untested 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 491238147 148478875 chr1_245654605 4.60e-03 untested 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247587982C>T;NG_007509.2:g.13508C>T;NM_001079821.2:c.1237C>T;NM_001127461.2:c.1237C>T;NM_001127462.2:c.1237C>T;NM_001243133.1:c.1231C>T;NM_004895.4:c.1237C>T;NM_183395.2:c.1237C>T;NP_001073289.1:p.Leu413=;NP_001120933.1:p.Leu413=;NP_001120934.1:p.Leu413=;NP_001230062.1:p.Leu411=;NP_004886.3:p.Leu413=;NP_899632.1:p.Leu413= 491619243 148478875 SNV-chr1-245654605 4.60e-03 untested 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1241G>T NC_000001.10:g.247587992G>T;NG_007509.2:g.13518G>T;NM_001079821.2:c.1247G>T;NM_001127461.2:c.1247G>T;NM_001127462.2:c.1247G>T;NM_001243133.1:c.1241G>T;NM_004895.4:c.1247G>T;NM_183395.2:c.1247G>T;NP_001073289.1:p.Trp416Leu;NP_001120933.1:p.Trp416Leu;NP_001120934.1:p.Trp416Leu;NP_001230062.1:p.Trp414Leu;NP_004886.3:p.Trp416Leu;NP_899632.1:p.Trp416Leu 469341515 180177496 807 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247587996C>T;NG_007509.2:g.13522C>T;NM_001079821.2:c.1251C>T;NM_001127461.2:c.1251C>T;NM_001127462.2:c.1251C>T;NM_001243133.1:c.1245C>T;NM_004895.4:c.1251C>T;NM_183395.2:c.1251C>T;NP_001073289.1:p.Ile417=;NP_001120933.1:p.Ile417=;NP_001120934.1:p.Ile417=;NP_001230062.1:p.Ile415=;NP_004886.3:p.Ile417=;NP_899632.1:p.Ile417= 342040881 139852370 ESP2500-chr1-247587996 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247587996C>T;NG_007509.2:g.13522C>T;NM_001079821.2:c.1251C>T;NM_001127461.2:c.1251C>T;NM_001127462.2:c.1251C>T;NM_001243133.1:c.1245C>T;NM_004895.4:c.1251C>T;NM_183395.2:c.1251C>T;NP_001073289.1:p.Ile417=;NP_001120933.1:p.Ile417=;NP_001120934.1:p.Ile417=;NP_001230062.1:p.Ile415=;NP_004886.3:p.Ile417=;NP_899632.1:p.Ile417= 491238148 139852370 chr1_245654619 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 YSAMUELS 114548 NC_000001.9:g.245654634G>A NC_000001.10:g.247588011G>A;NG_007509.2:g.13537G>A;NM_001079821.2:c.1266G>A;NM_001127461.2:c.1266G>A;NM_001127462.2:c.1266G>A;NM_001243133.1:c.1260G>A;NM_004895.4:c.1266G>A;NM_183395.2:c.1266G>A;NP_001073289.1:p.Leu422=;NP_001120933.1:p.Leu422=;NP_001120934.1:p.Leu422=;NP_001230062.1:p.Leu420=;NP_004886.3:p.Leu422=;NP_899632.1:p.Leu422= 344938142 143305855 NC_000001.9:g.245654634G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247588020G>A;NG_007509.2:g.13546G>A;NM_001079821.2:c.1275G>A;NM_001127461.2:c.1275G>A;NM_001127462.2:c.1275G>A;NM_001243133.1:c.1269G>A;NM_004895.4:c.1275G>A;NM_183395.2:c.1275G>A;NP_001073289.1:p.Gln425=;NP_001120933.1:p.Gln425=;NP_001120934.1:p.Gln425=;NP_001230062.1:p.Gln423=;NP_004886.3:p.Gln425=;NP_899632.1:p.Gln425= 491238149 201035625 chr1_245654643 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588027A>G;NG_007509.2:g.13553A>G;NM_001079821.2:c.1282A>G;NM_001127461.2:c.1282A>G;NM_001127462.2:c.1282A>G;NM_001243133.1:c.1276A>G;NM_004895.4:c.1282A>G;NM_183395.2:c.1282A>G;NP_001073289.1:p.Ser428Gly;NP_001120933.1:p.Ser428Gly;NP_001120934.1:p.Ser428Gly;NP_001230062.1:p.Ser426Gly;NP_004886.3:p.Ser428Gly;NP_899632.1:p.Ser428Gly 491238150 201979836 chr1_245654650 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 APPLERA_GI 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 48410410 34298354 hCV25648620 7.19e-02 2005.11.30 2005.11.30 2006.03.13 2012.11.28 137 SI_EXO 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 61713672 34298354 NT_004836.16_12345842 7.19e-02 2006.07.11 2006.08.17 2006.03.13 2012.11.28 137 HGSV 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 83154561 34298354 Cor18555_SNV_20070510.chr1_243914094 7.19e-02 2007.12.04 2007.12.04 2006.03.13 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 86342363 34298354 1331 7.19e-02 2008.01.25 2008.01.25 2006.03.13 2012.11.28 137 SEATTLESEQ 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 159701085 34298354 NLRP3-245654676 7.19e-02 2009.07.10 2009.07.10 2006.03.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 230995440 34298354 pilot_1_CEU_600069_chr1_245654676 7.19e-02 2010.05.01 2010.05.01 2006.03.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 238590422 34298354 pilot_1_CHB+JPT_475499_chr1_245654676 7.19e-02 2010.05.01 2010.05.01 2006.03.13 2012.11.28 137 GMI 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 276310504 34298354 GMI_AK_SNP_630671 7.19e-02 2010.12.16 2010.12.16 2006.03.13 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 342040884 34298354 ESP2500-chr1-247588053 7.19e-02 2011.03.26 2011.03.26 2006.03.13 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 482298373 34298354 HumanOmni2.5-4v1_B_SNP1-245654676-0_B_F_1621593371 7.19e-02 2012.02.01 2012.02.01 2006.03.13 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 483416342 34298354 HumanOmni2.5-4v1_D_kgp4762992-0_B_F_1821057928 7.19e-02 2012.02.02 2012.02.02 2006.03.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 489800500 34298354 20110521_exome_333973_chr1_247588053 7.19e-02 2012.02.15 2012.02.21 2006.03.13 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 491238151 34298354 chr1_245654676 7.19e-02 2012.03.02 2012.03.02 2006.03.13 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588053C>T;NG_007509.2:g.13579C>T;NM_001079821.2:c.1308C>T;NM_001127461.2:c.1308C>T;NM_001127462.2:c.1308C>T;NM_001243133.1:c.1302C>T;NM_004895.4:c.1308C>T;NM_183395.2:c.1308C>T;NP_001073289.1:p.Ser436=;NP_001120933.1:p.Ser436=;NP_001120934.1:p.Ser436=;NP_001230062.1:p.Ser434=;NP_004886.3:p.Ser436=;NP_899632.1:p.Ser436= 491619244 34298354 SNV-chr1-245654676 7.19e-02 2012.03.06 2012.03.12 2006.03.13 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1306_1308del NC_000001.10:g.247588057_247588059delACC;NG_007509.2:g.13583_13585delACC;NM_001079821.2:c.1312_1314delACC;NM_001127461.2:c.1312_1314delACC;NM_001127462.2:c.1312_1314delACC;NM_001243133.1:c.1306_1308delACC;NM_004895.4:c.1312_1314delACC;NM_183395.2:c.1312_1314delACC;NP_001073289.1:p.Thr438del;NP_001120933.1:p.Thr438del;NP_001120934.1:p.Thr438del;NP_001230062.1:p.Thr436del;NP_004886.3:p.Thr438del;NP_899632.1:p.Thr438del 244254967 180177492 746 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1306A>C NC_000001.10:g.247588057A>C;NC_000001.10:g.247588057A>G;NG_007509.2:g.13583A>C;NG_007509.2:g.13583A>G;NM_001079821.2:c.1312A>C;NM_001079821.2:c.1312A>G;NM_001127461.2:c.1312A>C;NM_001127461.2:c.1312A>G;NM_001127462.2:c.1312A>C;NM_001127462.2:c.1312A>G;NM_001243133.1:c.1306A>C;NM_001243133.1:c.1306A>G;NM_004895.4:c.1312A>C;NM_004895.4:c.1312A>G;NM_183395.2:c.1312A>C;NM_183395.2:c.1312A>G;NP_001073289.1:p.Thr438Ala;NP_001073289.1:p.Thr438Pro;NP_001120933.1:p.Thr438Ala;NP_001120933.1:p.Thr438Pro;NP_001120934.1:p.Thr438Ala;NP_001120934.1:p.Thr438Pro;NP_001230062.1:p.Thr436Ala;NP_001230062.1:p.Thr436Pro;NP_004886.3:p.Thr438Ala;NP_004886.3:p.Thr438Pro;NP_899632.1:p.Thr438Ala;NP_899632.1:p.Thr438Pro 469341489 180177465 460 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1306A>G NC_000001.10:g.247588057A>C;NC_000001.10:g.247588057A>G;NG_007509.2:g.13583A>C;NG_007509.2:g.13583A>G;NM_001079821.2:c.1312A>C;NM_001079821.2:c.1312A>G;NM_001127461.2:c.1312A>C;NM_001127461.2:c.1312A>G;NM_001127462.2:c.1312A>C;NM_001127462.2:c.1312A>G;NM_001243133.1:c.1306A>C;NM_001243133.1:c.1306A>G;NM_004895.4:c.1312A>C;NM_004895.4:c.1312A>G;NM_183395.2:c.1312A>C;NM_183395.2:c.1312A>G;NP_001073289.1:p.Thr438Ala;NP_001073289.1:p.Thr438Pro;NP_001120933.1:p.Thr438Ala;NP_001120933.1:p.Thr438Pro;NP_001120934.1:p.Thr438Ala;NP_001120934.1:p.Thr438Pro;NP_001230062.1:p.Thr436Ala;NP_001230062.1:p.Thr436Pro;NP_004886.3:p.Thr438Ala;NP_004886.3:p.Thr438Pro;NP_899632.1:p.Thr438Ala;NP_899632.1:p.Thr438Pro 469341504 180177465 608 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1307C>A NC_000001.10:g.247588058C>A;NC_000001.10:g.247588058C>T;NG_007509.2:g.13584C>A;NG_007509.2:g.13584C>T;NM_001079821.2:c.1313C>A;NM_001079821.2:c.1313C>T;NM_001127461.2:c.1313C>A;NM_001127461.2:c.1313C>T;NM_001127462.2:c.1313C>A;NM_001127462.2:c.1313C>T;NM_001243133.1:c.1307C>A;NM_001243133.1:c.1307C>T;NM_004895.4:c.1313C>A;NM_004895.4:c.1313C>T;NM_183395.2:c.1313C>A;NM_183395.2:c.1313C>T;NP_001073289.1:p.Thr438Asn;NP_001073289.1:p.Thr438Ile;NP_001120933.1:p.Thr438Asn;NP_001120933.1:p.Thr438Ile;NP_001120934.1:p.Thr438Asn;NP_001120934.1:p.Thr438Ile;NP_001230062.1:p.Thr436Asn;NP_001230062.1:p.Thr436Ile;NP_004886.3:p.Thr438Asn;NP_004886.3:p.Thr438Ile;NP_899632.1:p.Thr438Asn;NP_899632.1:p.Thr438Ile 244254945 180177433 125 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1307C>T NC_000001.10:g.247588058C>A;NC_000001.10:g.247588058C>T;NG_007509.2:g.13584C>A;NG_007509.2:g.13584C>T;NM_001079821.2:c.1313C>A;NM_001079821.2:c.1313C>T;NM_001127461.2:c.1313C>A;NM_001127461.2:c.1313C>T;NM_001127462.2:c.1313C>A;NM_001127462.2:c.1313C>T;NM_001243133.1:c.1307C>A;NM_001243133.1:c.1307C>T;NM_004895.4:c.1313C>A;NM_004895.4:c.1313C>T;NM_183395.2:c.1313C>A;NM_183395.2:c.1313C>T;NP_001073289.1:p.Thr438Asn;NP_001073289.1:p.Thr438Ile;NP_001120933.1:p.Thr438Asn;NP_001120933.1:p.Thr438Ile;NP_001120934.1:p.Thr438Asn;NP_001120934.1:p.Thr438Ile;NP_001230062.1:p.Thr436Asn;NP_001230062.1:p.Thr436Ile;NP_004886.3:p.Thr438Asn;NP_004886.3:p.Thr438Ile;NP_899632.1:p.Thr438Asn;NP_899632.1:p.Thr438Ile 244254953 180177433 314 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588065C>T;NG_007509.2:g.13591C>T;NM_001079821.2:c.1320C>T;NM_001127461.2:c.1320C>T;NM_001127462.2:c.1320C>T;NM_001243133.1:c.1314C>T;NM_004895.4:c.1320C>T;NM_183395.2:c.1320C>T;NP_001073289.1:p.Thr440=;NP_001120933.1:p.Thr440=;NP_001120934.1:p.Thr440=;NP_001230062.1:p.Thr438=;NP_004886.3:p.Thr440=;NP_899632.1:p.Thr440= 491238152 201210274 chr1_245654688 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1315G>A NC_000001.10:g.247588066G>A;NC_000001.10:g.247588066G>C;NG_007509.2:g.13592G>A;NG_007509.2:g.13592G>C;NM_001079821.2:c.1321G>A;NM_001079821.2:c.1321G>C;NM_001127461.2:c.1321G>A;NM_001127461.2:c.1321G>C;NM_001127462.2:c.1321G>A;NM_001127462.2:c.1321G>C;NM_001243133.1:c.1315G>A;NM_001243133.1:c.1315G>C;NM_004895.4:c.1321G>A;NM_004895.4:c.1321G>C;NM_183395.2:c.1321G>A;NM_183395.2:c.1321G>C;NP_001073289.1:p.Ala441Pro;NP_001073289.1:p.Ala441Thr;NP_001120933.1:p.Ala441Pro;NP_001120933.1:p.Ala441Thr;NP_001120934.1:p.Ala441Pro;NP_001120934.1:p.Ala441Thr;NP_001230062.1:p.Ala439Pro;NP_001230062.1:p.Ala439Thr;NP_004886.3:p.Ala441Pro;NP_004886.3:p.Ala441Thr;NP_899632.1:p.Ala441Pro;NP_899632.1:p.Ala441Thr 469341458 180177430 114 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1315G>C NC_000001.10:g.247588066G>A;NC_000001.10:g.247588066G>C;NG_007509.2:g.13592G>A;NG_007509.2:g.13592G>C;NM_001079821.2:c.1321G>A;NM_001079821.2:c.1321G>C;NM_001127461.2:c.1321G>A;NM_001127461.2:c.1321G>C;NM_001127462.2:c.1321G>A;NM_001127462.2:c.1321G>C;NM_001243133.1:c.1315G>A;NM_001243133.1:c.1315G>C;NM_004895.4:c.1321G>A;NM_004895.4:c.1321G>C;NM_183395.2:c.1321G>A;NM_183395.2:c.1321G>C;NP_001073289.1:p.Ala441Pro;NP_001073289.1:p.Ala441Thr;NP_001120933.1:p.Ala441Pro;NP_001120933.1:p.Ala441Thr;NP_001120934.1:p.Ala441Pro;NP_001120934.1:p.Ala441Thr;NP_001230062.1:p.Ala439Pro;NP_001230062.1:p.Ala439Thr;NP_004886.3:p.Ala441Pro;NP_004886.3:p.Ala441Thr;NP_899632.1:p.Ala441Pro;NP_899632.1:p.Ala441Thr 469341479 180177430 341 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1316C>T NC_000001.10:g.247588067C>T;NG_007509.2:g.13593C>T;NM_001079821.2:c.1322C>T;NM_001127461.2:c.1322C>T;NM_001127462.2:c.1322C>T;NM_001243133.1:c.1316C>T;NM_004895.4:c.1322C>T;NM_183395.2:c.1322C>T;NP_001073289.1:p.Ala441Val;NP_001120933.1:p.Ala441Val;NP_001120934.1:p.Ala441Val;NP_001230062.1:p.Ala439Val;NP_004886.3:p.Ala441Val;NP_899632.1:p.Ala441Val 244254938 121908146 100 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.ALA441VAL NC_000001.10:g.247588067C>T;NG_007509.2:g.13593C>T;NM_001079821.2:c.1322C>T;NM_001127461.2:c.1322C>T;NM_001127462.2:c.1322C>T;NM_001243133.1:c.1316C>T;NM_004895.4:c.1322C>T;NM_183395.2:c.1322C>T;NP_001073289.1:p.Ala441Val;NP_001120933.1:p.Ala441Val;NP_001120934.1:p.Ala441Val;NP_001230062.1:p.Ala439Val;NP_004886.3:p.Ala441Val;NP_899632.1:p.Ala441Val 262857603 121908146 13770 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247588068G>A;NG_007509.2:g.13594G>A;NM_001079821.2:c.1323G>A;NM_001127461.2:c.1323G>A;NM_001127462.2:c.1323G>A;NM_001243133.1:c.1317G>A;NM_004895.4:c.1323G>A;NM_183395.2:c.1323G>A;NP_001073289.1:p.Ala441=;NP_001120933.1:p.Ala441=;NP_001120934.1:p.Ala441=;NP_001230062.1:p.Ala439=;NP_004886.3:p.Ala441=;NP_899632.1:p.Ala441= 491238153 201976178 chr1_245654691 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1321T>C NC_000001.10:g.247588072T>C;NG_007509.2:g.13598T>C;NM_001079821.2:c.1327T>C;NM_001127461.2:c.1327T>C;NM_001127462.2:c.1327T>C;NM_001243133.1:c.1321T>C;NM_004895.4:c.1327T>C;NM_183395.2:c.1327T>C;NP_001073289.1:p.Tyr443His;NP_001120933.1:p.Tyr443His;NP_001120934.1:p.Tyr443His;NP_001230062.1:p.Tyr441His;NP_004886.3:p.Tyr443His;NP_899632.1:p.Tyr443His 469341517 180177499 835 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588074C>G;NG_007509.2:g.13600C>G;NM_001079821.2:c.1329C>G;NM_001127461.2:c.1329C>G;NM_001127462.2:c.1329C>G;NM_001243133.1:c.1323C>G;NM_004895.4:c.1329C>G;NM_183395.2:c.1329C>G;NP_001073289.1:p.Tyr443Ter;NP_001120933.1:p.Tyr443Ter;NP_001120934.1:p.Tyr443Ter;NP_001230062.1:p.Tyr441Ter;NP_004886.3:p.Tyr443Ter;NP_899632.1:p.Tyr443Ter 491238154 200269703 chr1_245654697 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588075G>A;NG_007509.2:g.13601G>A;NM_001079821.2:c.1330G>A;NM_001127461.2:c.1330G>A;NM_001127462.2:c.1330G>A;NM_001243133.1:c.1324G>A;NM_004895.4:c.1330G>A;NM_183395.2:c.1330G>A;NP_001073289.1:p.Val444Ile;NP_001120933.1:p.Val444Ile;NP_001120934.1:p.Val444Ile;NP_001230062.1:p.Val442Ile;NP_004886.3:p.Val444Ile;NP_899632.1:p.Val444Ile 491238155 201252712 chr1_245654698 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1329C>G NC_000001.10:g.247588080C>G;NG_007509.2:g.13606C>G;NM_001079821.2:c.1335C>G;NM_001127461.2:c.1335C>G;NM_001127462.2:c.1335C>G;NM_001243133.1:c.1329C>G;NM_004895.4:c.1335C>G;NM_183395.2:c.1335C>G;NP_001073289.1:p.Phe445Leu;NP_001120933.1:p.Phe445Leu;NP_001120934.1:p.Phe445Leu;NP_001230062.1:p.Phe443Leu;NP_004886.3:p.Phe445Leu;NP_899632.1:p.Phe445Leu 244254962 180177477 591 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247588084C>T;NG_007509.2:g.13610C>T;NM_001079821.2:c.1339C>T;NM_001127461.2:c.1339C>T;NM_001127462.2:c.1339C>T;NM_001243133.1:c.1333C>T;NM_004895.4:c.1339C>T;NM_183395.2:c.1339C>T;NP_001073289.1:p.Leu447Phe;NP_001120933.1:p.Leu447Phe;NP_001120934.1:p.Leu447Phe;NP_001230062.1:p.Leu445Phe;NP_004886.3:p.Leu447Phe;NP_899632.1:p.Leu447Phe 491238156 202121800 chr1_245654707 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588104C>T;NG_007509.2:g.13630C>T;NM_001079821.2:c.1359C>T;NM_001127461.2:c.1359C>T;NM_001127462.2:c.1359C>T;NM_001243133.1:c.1353C>T;NM_004895.4:c.1359C>T;NM_183395.2:c.1359C>T;NP_001073289.1:p.Pro453=;NP_001120933.1:p.Pro453=;NP_001120934.1:p.Pro453=;NP_001230062.1:p.Pro451=;NP_004886.3:p.Pro453=;NP_899632.1:p.Pro453= 491238157 200228309 chr1_245654727 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588105C>T;NG_007509.2:g.13631C>T;NM_001079821.2:c.1360C>T;NM_001127461.2:c.1360C>T;NM_001127462.2:c.1360C>T;NM_001243133.1:c.1354C>T;NM_004895.4:c.1360C>T;NM_183395.2:c.1360C>T;NP_001073289.1:p.Arg454Trp;NP_001120933.1:p.Arg454Trp;NP_001120934.1:p.Arg454Trp;NP_001230062.1:p.Arg452Trp;NP_004886.3:p.Arg454Trp;NP_899632.1:p.Arg454Trp 491238158 201377872 chr1_245654728 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588112G>A;NG_007509.2:g.13638G>A;NM_001079821.2:c.1367G>A;NM_001127461.2:c.1367G>A;NM_001127462.2:c.1367G>A;NM_001243133.1:c.1361G>A;NM_004895.4:c.1367G>A;NM_183395.2:c.1367G>A;NP_001073289.1:p.Gly456Glu;NP_001120933.1:p.Gly456Glu;NP_001120934.1:p.Gly456Glu;NP_001230062.1:p.Gly454Glu;NP_004886.3:p.Gly456Glu;NP_899632.1:p.Gly456Glu 491238159 199696688 chr1_245654735 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588113G>C;NG_007509.2:g.13639G>C;NM_001079821.2:c.1368G>C;NM_001127461.2:c.1368G>C;NM_001127462.2:c.1368G>C;NM_001243133.1:c.1362G>C;NM_004895.4:c.1368G>C;NM_183395.2:c.1368G>C;NP_001073289.1:p.Gly456=;NP_001120933.1:p.Gly456=;NP_001120934.1:p.Gly456=;NP_001230062.1:p.Gly454=;NP_004886.3:p.Gly456=;NP_899632.1:p.Gly456= 491238160 200314422 chr1_245654736 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247588122G>T;NG_007509.2:g.13648G>T;NM_001079821.2:c.1377G>T;NM_001127461.2:c.1377G>T;NM_001127462.2:c.1377G>T;NM_001243133.1:c.1371G>T;NM_004895.4:c.1377G>T;NM_183395.2:c.1377G>T;NP_001073289.1:p.Glu459Asp;NP_001120933.1:p.Glu459Asp;NP_001120934.1:p.Glu459Asp;NP_001230062.1:p.Glu457Asp;NP_004886.3:p.Glu459Asp;NP_899632.1:p.Glu459Asp 454808118 191754224 20101123_snps_975348_chr1_247588122 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588122G>T;NG_007509.2:g.13648G>T;NM_001079821.2:c.1377G>T;NM_001127461.2:c.1377G>T;NM_001127462.2:c.1377G>T;NM_001243133.1:c.1371G>T;NM_004895.4:c.1377G>T;NM_183395.2:c.1377G>T;NP_001073289.1:p.Glu459Asp;NP_001120933.1:p.Glu459Asp;NP_001120934.1:p.Glu459Asp;NP_001230062.1:p.Glu457Asp;NP_004886.3:p.Glu459Asp;NP_899632.1:p.Glu459Asp 489800502 191754224 20110521_exome_333974_chr1_247588122 9.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1374C>T NC_000001.10:g.247588125C>T;NG_007509.2:g.13651C>T;NM_001079821.2:c.1380C>T;NM_001127461.2:c.1380C>T;NM_001127462.2:c.1380C>T;NM_001243133.1:c.1374C>T;NM_004895.4:c.1380C>T;NM_183395.2:c.1380C>T;NP_001073289.1:p.His460=;NP_001120933.1:p.His460=;NP_001120934.1:p.His460=;NP_001230062.1:p.His458=;NP_004886.3:p.His460=;NP_899632.1:p.His460= 469341502 180177481 598 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588125C>T;NG_007509.2:g.13651C>T;NM_001079821.2:c.1380C>T;NM_001127461.2:c.1380C>T;NM_001127462.2:c.1380C>T;NM_001243133.1:c.1374C>T;NM_004895.4:c.1380C>T;NM_183395.2:c.1380C>T;NP_001073289.1:p.His460=;NP_001120933.1:p.His460=;NP_001120934.1:p.His460=;NP_001230062.1:p.His458=;NP_004886.3:p.His460=;NP_899632.1:p.His460= 491238161 180177481 chr1_245654748 untested 2012.03.02 2012.03.02 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1383C>T NC_000001.10:g.247588134C>T;NG_007509.2:g.13660C>T;NM_001079821.2:c.1389C>T;NM_001127461.2:c.1389C>T;NM_001127462.2:c.1389C>T;NM_001243133.1:c.1383C>T;NM_004895.4:c.1389C>T;NM_183395.2:c.1389C>T;NP_001073289.1:p.Cys463=;NP_001120933.1:p.Cys463=;NP_001120934.1:p.Cys463=;NP_001230062.1:p.Cys461=;NP_004886.3:p.Cys463=;NP_899632.1:p.Cys463= 244254951 104895398 169 untested 2011.09.08 2011.09.08 2010.06.07 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588134C>T;NG_007509.2:g.13660C>T;NM_001079821.2:c.1389C>T;NM_001127461.2:c.1389C>T;NM_001127462.2:c.1389C>T;NM_001243133.1:c.1383C>T;NM_004895.4:c.1389C>T;NM_183395.2:c.1389C>T;NP_001073289.1:p.Cys463=;NP_001120933.1:p.Cys463=;NP_001120934.1:p.Cys463=;NP_001230062.1:p.Cys461=;NP_004886.3:p.Cys463=;NP_899632.1:p.Cys463= 342040886 104895398 ESP2500-chr1-247588134 untested 2011.03.26 2011.03.26 2010.06.07 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588134C>T;NG_007509.2:g.13660C>T;NM_001079821.2:c.1389C>T;NM_001127461.2:c.1389C>T;NM_001127462.2:c.1389C>T;NM_001243133.1:c.1383C>T;NM_004895.4:c.1389C>T;NM_183395.2:c.1389C>T;NP_001073289.1:p.Cys463=;NP_001120933.1:p.Cys463=;NP_001120934.1:p.Cys463=;NP_001230062.1:p.Cys461=;NP_004886.3:p.Cys463=;NP_899632.1:p.Cys463= 491238162 104895398 chr1_245654757 untested 2012.03.02 2012.03.02 2010.06.07 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 181339824 111400208 58857 1.80e-03 untested 2009.12.04 2009.12.04 2010.07.04 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1389C>T NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 244254952 111400208 170 1.80e-03 untested 2011.09.08 2011.09.08 2010.07.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 342040888 111400208 ESP2500-chr1-247588140 1.80e-03 untested 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 454808119 111400208 20101123_snps_975349_chr1_247588140 1.80e-03 untested 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 489800504 111400208 20110521_exome_333975_chr1_247588140 1.80e-03 untested 2012.02.15 2012.02.21 2010.07.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 491238163 111400208 chr1_245654763 1.80e-03 untested 2012.03.02 2012.03.02 2010.07.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588140C>T;NG_007509.2:g.13666C>T;NM_001079821.2:c.1395C>T;NM_001127461.2:c.1395C>T;NM_001127462.2:c.1395C>T;NM_001243133.1:c.1389C>T;NM_004895.4:c.1395C>T;NM_183395.2:c.1395C>T;NP_001073289.1:p.His465=;NP_001120933.1:p.His465=;NP_001120934.1:p.His465=;NP_001230062.1:p.His463=;NP_004886.3:p.His465=;NP_899632.1:p.His465= 491619245 111400208 SNV-chr1-245654763 1.80e-03 untested 2012.03.06 2012.03.12 2010.07.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588152C>T;NG_007509.2:g.13678C>T;NM_001079821.2:c.1407C>T;NM_001127461.2:c.1407C>T;NM_001127462.2:c.1407C>T;NM_001243133.1:c.1401C>T;NM_004895.4:c.1407C>T;NM_183395.2:c.1407C>T;NP_001073289.1:p.Leu469=;NP_001120933.1:p.Leu469=;NP_001120934.1:p.Leu469=;NP_001230062.1:p.Leu467=;NP_004886.3:p.Leu469=;NP_899632.1:p.Leu469= 342040890 141637807 ESP2500-chr1-247588152 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588152C>T;NG_007509.2:g.13678C>T;NM_001079821.2:c.1407C>T;NM_001127461.2:c.1407C>T;NM_001127462.2:c.1407C>T;NM_001243133.1:c.1401C>T;NM_004895.4:c.1407C>T;NM_183395.2:c.1407C>T;NP_001073289.1:p.Leu469=;NP_001120933.1:p.Leu469=;NP_001120934.1:p.Leu469=;NP_001230062.1:p.Leu467=;NP_004886.3:p.Leu469=;NP_899632.1:p.Leu469= 491238164 141637807 chr1_245654775 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1431C>A NC_000001.10:g.247588182C>A;NG_007509.2:g.13708C>A;NM_001079821.2:c.1437C>A;NM_001127461.2:c.1437C>A;NM_001127462.2:c.1437C>A;NM_001243133.1:c.1431C>A;NM_004895.4:c.1437C>A;NM_183395.2:c.1437C>A;NP_001073289.1:p.Asn479Lys;NP_001120933.1:p.Asn479Lys;NP_001120934.1:p.Asn479Lys;NP_001230062.1:p.Asn477Lys;NP_004886.3:p.Asn479Lys;NP_899632.1:p.Asn479Lys 244254964 180177485 613 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1438A>T NC_000001.10:g.247588189A>T;NG_007509.2:g.13715A>T;NM_001079821.2:c.1444A>T;NM_001127461.2:c.1444A>T;NM_001127462.2:c.1444A>T;NM_001243133.1:c.1438A>T;NM_004895.4:c.1444A>T;NM_183395.2:c.1444A>T;NP_001073289.1:p.Ile482Phe;NP_001120933.1:p.Ile482Phe;NP_001120934.1:p.Ile482Phe;NP_001230062.1:p.Ile480Phe;NP_004886.3:p.Ile482Phe;NP_899632.1:p.Ile482Phe 469341503 180177482 601 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 1000GENOMES 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 329363762 145268073 20100804_snps_1007298_chr1_247588214 5.00e-04 untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 342040892 145268073 ESP2500-chr1-247588214 5.00e-04 untested 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1463G>A NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 469341467 145268073 156 5.00e-04 untested 2011.09.08 2011.09.08 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 489800506 145268073 20110521_exome_333976_chr1_247588214 5.00e-04 untested 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 491238165 145268073 chr1_245654837 5.00e-04 untested 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 491313834 145268073 nonsyn_30061_chr_1_247588214 5.00e-04 untested 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588214G>A;NG_007509.2:g.13740G>A;NM_001079821.2:c.1469G>A;NM_001127461.2:c.1469G>A;NM_001127462.2:c.1469G>A;NM_001243133.1:c.1463G>A;NM_004895.4:c.1469G>A;NM_183395.2:c.1469G>A;NP_001073289.1:p.Arg490Lys;NP_001120933.1:p.Arg490Lys;NP_001120934.1:p.Arg490Lys;NP_001230062.1:p.Arg488Lys;NP_004886.3:p.Arg490Lys;NP_899632.1:p.Arg490Lys 491619246 145268073 SNV-chr1-245654837 5.00e-04 untested 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1484C>T NC_000001.10:g.247588235C>T;NG_007509.2:g.13761C>T;NM_001079821.2:c.1490C>T;NM_001127461.2:c.1490C>T;NM_001127462.2:c.1490C>T;NM_001243133.1:c.1484C>T;NM_004895.4:c.1490C>T;NM_183395.2:c.1490C>T;NP_001073289.1:p.Ala497Val;NP_001120933.1:p.Ala497Val;NP_001120934.1:p.Ala497Val;NP_001230062.1:p.Ala495Val;NP_004886.3:p.Ala497Val;NP_899632.1:p.Ala497Val 469341496 180177474 582 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247588257G>A;NG_007509.2:g.13783G>A;NM_001079821.2:c.1512G>A;NM_001127461.2:c.1512G>A;NM_001127462.2:c.1512G>A;NM_001243133.1:c.1506G>A;NM_004895.4:c.1512G>A;NM_183395.2:c.1512G>A;NP_001073289.1:p.Arg504=;NP_001120933.1:p.Arg504=;NP_001120934.1:p.Arg504=;NP_001230062.1:p.Arg502=;NP_004886.3:p.Arg504=;NP_899632.1:p.Arg504= 342040894 150776307 ESP2500-chr1-247588257 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247588287C>T;NG_007509.2:g.13813C>T;NM_001079821.2:c.1542C>T;NM_001127461.2:c.1542C>T;NM_001127462.2:c.1542C>T;NM_001243133.1:c.1536C>T;NM_004895.4:c.1542C>T;NM_183395.2:c.1542C>T;NP_001073289.1:p.Cys514=;NP_001120933.1:p.Cys514=;NP_001120934.1:p.Cys514=;NP_001230062.1:p.Cys512=;NP_004886.3:p.Cys514=;NP_899632.1:p.Cys514= 491238166 201003943 chr1_245654910 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1568T>G NC_000001.10:g.247588319T>G;NG_007509.2:g.13845T>G;NM_001079821.2:c.1574T>G;NM_001127461.2:c.1574T>G;NM_001127462.2:c.1574T>G;NM_001243133.1:c.1568T>G;NM_004895.4:c.1574T>G;NM_183395.2:c.1574T>G;NP_001073289.1:p.Phe525Cys;NP_001120933.1:p.Phe525Cys;NP_001120934.1:p.Phe525Cys;NP_001230062.1:p.Phe523Cys;NP_004886.3:p.Phe525Cys;NP_899632.1:p.Phe525Cys 244254963 180177478 592 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1569C>A NC_000001.10:g.247588320C>A;NC_000001.10:g.247588320C>G;NG_007509.2:g.13846C>A;NG_007509.2:g.13846C>G;NM_001079821.2:c.1575C>A;NM_001079821.2:c.1575C>G;NM_001127461.2:c.1575C>A;NM_001127461.2:c.1575C>G;NM_001127462.2:c.1575C>A;NM_001127462.2:c.1575C>G;NM_001243133.1:c.1569C>A;NM_001243133.1:c.1569C>G;NM_004895.4:c.1575C>A;NM_004895.4:c.1575C>G;NM_183395.2:c.1575C>A;NM_183395.2:c.1575C>G;NP_001073289.1:p.Phe525Leu;NP_001120933.1:p.Phe525Leu;NP_001120934.1:p.Phe525Leu;NP_001230062.1:p.Phe523Leu;NP_004886.3:p.Phe525Leu;NP_899632.1:p.Phe525Leu 469341465 180177439 140 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1569C>G NC_000001.10:g.247588320C>A;NC_000001.10:g.247588320C>G;NG_007509.2:g.13846C>A;NG_007509.2:g.13846C>G;NM_001079821.2:c.1575C>A;NM_001079821.2:c.1575C>G;NM_001127461.2:c.1575C>A;NM_001127461.2:c.1575C>G;NM_001127462.2:c.1575C>A;NM_001127462.2:c.1575C>G;NM_001243133.1:c.1569C>A;NM_001243133.1:c.1569C>G;NM_004895.4:c.1575C>A;NM_004895.4:c.1575C>G;NM_183395.2:c.1575C>A;NM_183395.2:c.1575C>G;NP_001073289.1:p.Phe525Leu;NP_001120933.1:p.Phe525Leu;NP_001120934.1:p.Phe525Leu;NP_001230062.1:p.Phe523Leu;NP_004886.3:p.Phe525Leu;NP_899632.1:p.Phe525Leu 469341466 180177439 141 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1573G>A NC_000001.10:g.247588324G>A;NG_007509.2:g.13850G>A;NM_001079821.2:c.1579G>A;NM_001127461.2:c.1579G>A;NM_001127462.2:c.1579G>A;NM_001243133.1:c.1573G>A;NM_004895.4:c.1579G>A;NM_183395.2:c.1579G>A;NP_001073289.1:p.Glu527Lys;NP_001120933.1:p.Glu527Lys;NP_001120934.1:p.Glu527Lys;NP_001230062.1:p.Glu525Lys;NP_004886.3:p.Glu527Lys;NP_899632.1:p.Glu527Lys 469341484 180177458 410 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588335C>T;NG_007509.2:g.13861C>T;NM_001079821.2:c.1590C>T;NM_001127461.2:c.1590C>T;NM_001127462.2:c.1590C>T;NM_001243133.1:c.1584C>T;NM_004895.4:c.1590C>T;NM_183395.2:c.1590C>T;NP_001073289.1:p.Ala530=;NP_001120933.1:p.Ala530=;NP_001120934.1:p.Ala530=;NP_001230062.1:p.Ala528=;NP_004886.3:p.Ala530=;NP_899632.1:p.Ala530= 491238167 201644343 chr1_245654958 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 219005631 116054301 pilot_1_YRI_815314_chr1_245654974 7.30e-03 untested 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 342040896 116054301 ESP2500-chr1-247588351 7.30e-03 untested 2011.03.26 2011.03.26 2010.07.14 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1600C>T NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 469341469 116054301 171 7.30e-03 untested 2011.09.08 2011.09.08 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 479513248 116054301 HumanOmni2.5-4v1_D_kgp10968760-0_B_F_1818775319 7.30e-03 untested 2012.01.30 2012.01.30 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 482298376 116054301 HumanOmni2.5-4v1_B_SNP1-245654974-0_B_F_1642740358 7.30e-03 untested 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 489800508 116054301 20110521_exome_333977_chr1_247588351 7.30e-03 untested 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588351C>T;NG_007509.2:g.13877C>T;NM_001079821.2:c.1606C>T;NM_001127461.2:c.1606C>T;NM_001127462.2:c.1606C>T;NM_001243133.1:c.1600C>T;NM_004895.4:c.1606C>T;NM_183395.2:c.1606C>T;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 491238168 116054301 chr1_245654974 7.30e-03 untested 2012.03.02 2012.03.02 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588353G>A;NG_007509.2:g.13879G>A;NM_001079821.2:c.1608G>A;NM_001127461.2:c.1608G>A;NM_001127462.2:c.1608G>A;NM_001243133.1:c.1602G>A;NM_004895.4:c.1608G>A;NM_183395.2:c.1608G>A;NP_001073289.1:p.Leu536=;NP_001120933.1:p.Leu536=;NP_001120934.1:p.Leu536=;NP_001230062.1:p.Leu534=;NP_004886.3:p.Leu536=;NP_899632.1:p.Leu536= 491238169 200723333 chr1_245654976 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588365G>A;NG_007509.2:g.13891G>A;NM_001079821.2:c.1620G>A;NM_001127461.2:c.1620G>A;NM_001127462.2:c.1620G>A;NM_001243133.1:c.1614G>A;NM_004895.4:c.1620G>A;NM_183395.2:c.1620G>A;NP_001073289.1:p.Lys540=;NP_001120933.1:p.Lys540=;NP_001120934.1:p.Lys540=;NP_001230062.1:p.Lys538=;NP_004886.3:p.Lys540=;NP_899632.1:p.Lys540= 491238170 201883238 chr1_245654988 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588376C>T;NG_007509.2:g.13902C>T;NM_001079821.2:c.1631C>T;NM_001127461.2:c.1631C>T;NM_001127462.2:c.1631C>T;NM_001243133.1:c.1625C>T;NM_004895.4:c.1631C>T;NM_183395.2:c.1631C>T;NP_001073289.1:p.Thr544Met;NP_001120933.1:p.Thr544Met;NP_001120934.1:p.Thr544Met;NP_001230062.1:p.Thr542Met;NP_004886.3:p.Thr544Met;NP_899632.1:p.Thr544Met 491238171 199856287 chr1_245654999 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588377G>A;NG_007509.2:g.13903G>A;NM_001079821.2:c.1632G>A;NM_001127461.2:c.1632G>A;NM_001127462.2:c.1632G>A;NM_001243133.1:c.1626G>A;NM_004895.4:c.1632G>A;NM_183395.2:c.1632G>A;NP_001073289.1:p.Thr544=;NP_001120933.1:p.Thr544=;NP_001120934.1:p.Thr544=;NP_001230062.1:p.Thr542=;NP_004886.3:p.Thr544=;NP_899632.1:p.Thr544= 491238172 201031071 chr1_245655000 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588381G>A;NG_007509.2:g.13907G>A;NM_001079821.2:c.1636G>A;NM_001127461.2:c.1636G>A;NM_001127462.2:c.1636G>A;NM_001243133.1:c.1630G>A;NM_004895.4:c.1636G>A;NM_183395.2:c.1636G>A;NP_001073289.1:p.Val546Ile;NP_001120933.1:p.Val546Ile;NP_001120934.1:p.Val546Ile;NP_001230062.1:p.Val544Ile;NP_004886.3:p.Val546Ile;NP_899632.1:p.Val546Ile 491238173 202204283 chr1_245655004 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588384C>G;NG_007509.2:g.13910C>G;NM_001079821.2:c.1639C>G;NM_001127461.2:c.1639C>G;NM_001127462.2:c.1639C>G;NM_001243133.1:c.1633C>G;NM_004895.4:c.1639C>G;NM_183395.2:c.1639C>G;NP_001073289.1:p.Pro547Ala;NP_001120933.1:p.Pro547Ala;NP_001120934.1:p.Pro547Ala;NP_001230062.1:p.Pro545Ala;NP_004886.3:p.Pro547Ala;NP_899632.1:p.Pro547Ala 491238174 200088340 chr1_245655007 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588390A>T;NG_007509.2:g.13916A>T;NM_001079821.2:c.1645A>T;NM_001127461.2:c.1645A>T;NM_001127462.2:c.1645A>T;NM_001243133.1:c.1639A>T;NM_004895.4:c.1645A>T;NM_183395.2:c.1645A>T;NP_001073289.1:p.Ser549Cys;NP_001120933.1:p.Ser549Cys;NP_001120934.1:p.Ser549Cys;NP_001230062.1:p.Ser547Cys;NP_004886.3:p.Ser549Cys;NP_899632.1:p.Ser549Cys 342040898 139833874 ESP2500-chr1-247588390 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588390A>T;NG_007509.2:g.13916A>T;NM_001079821.2:c.1645A>T;NM_001127461.2:c.1645A>T;NM_001127462.2:c.1645A>T;NM_001243133.1:c.1639A>T;NM_004895.4:c.1645A>T;NM_183395.2:c.1645A>T;NP_001073289.1:p.Ser549Cys;NP_001120933.1:p.Ser549Cys;NP_001120934.1:p.Ser549Cys;NP_001230062.1:p.Ser547Cys;NP_004886.3:p.Ser549Cys;NP_899632.1:p.Ser549Cys 488705569 139833874 20110521_exome_29261_chr1_247588390 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588390A>T;NG_007509.2:g.13916A>T;NM_001079821.2:c.1645A>T;NM_001127461.2:c.1645A>T;NM_001127462.2:c.1645A>T;NM_001243133.1:c.1639A>T;NM_004895.4:c.1645A>T;NM_183395.2:c.1645A>T;NP_001073289.1:p.Ser549Cys;NP_001120933.1:p.Ser549Cys;NP_001120934.1:p.Ser549Cys;NP_001230062.1:p.Ser547Cys;NP_004886.3:p.Ser549Cys;NP_899632.1:p.Ser549Cys 491238175 139833874 chr1_245655013 9.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247588390A>T;NG_007509.2:g.13916A>T;NM_001079821.2:c.1645A>T;NM_001127461.2:c.1645A>T;NM_001127462.2:c.1645A>T;NM_001243133.1:c.1639A>T;NM_004895.4:c.1645A>T;NM_183395.2:c.1645A>T;NP_001073289.1:p.Ser549Cys;NP_001120933.1:p.Ser549Cys;NP_001120934.1:p.Ser549Cys;NP_001230062.1:p.Ser547Cys;NP_004886.3:p.Ser549Cys;NP_899632.1:p.Ser549Cys 491313835 139833874 nonsyn_30062_chr_1_247588390 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588393C>T;NG_007509.2:g.13919C>T;NM_001079821.2:c.1648C>T;NM_001127461.2:c.1648C>T;NM_001127462.2:c.1648C>T;NM_001243133.1:c.1642C>T;NM_004895.4:c.1648C>T;NM_183395.2:c.1648C>T;NP_001073289.1:p.Arg550Cys;NP_001120933.1:p.Arg550Cys;NP_001120934.1:p.Arg550Cys;NP_001230062.1:p.Arg548Cys;NP_004886.3:p.Arg550Cys;NP_899632.1:p.Arg550Cys 491238176 201678213 chr1_245655016 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588394G>A;NG_007509.2:g.13920G>A;NM_001079821.2:c.1649G>A;NM_001127461.2:c.1649G>A;NM_001127462.2:c.1649G>A;NM_001243133.1:c.1643G>A;NM_004895.4:c.1649G>A;NM_183395.2:c.1649G>A;NP_001073289.1:p.Arg550His;NP_001120933.1:p.Arg550His;NP_001120934.1:p.Arg550His;NP_001230062.1:p.Arg548His;NP_004886.3:p.Arg550His;NP_899632.1:p.Arg550His 491238177 200258061 chr1_245655017 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588396T>C;NG_007509.2:g.13922T>C;NM_001079821.2:c.1651T>C;NM_001127461.2:c.1651T>C;NM_001127462.2:c.1651T>C;NM_001243133.1:c.1645T>C;NM_004895.4:c.1651T>C;NM_183395.2:c.1651T>C;NP_001073289.1:p.Leu551=;NP_001120933.1:p.Leu551=;NP_001120934.1:p.Leu551=;NP_001230062.1:p.Leu549=;NP_004886.3:p.Leu551=;NP_899632.1:p.Leu551= 342040900 144469697 ESP2500-chr1-247588396 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588396T>C;NG_007509.2:g.13922T>C;NM_001079821.2:c.1651T>C;NM_001127461.2:c.1651T>C;NM_001127462.2:c.1651T>C;NM_001243133.1:c.1645T>C;NM_004895.4:c.1651T>C;NM_183395.2:c.1651T>C;NP_001073289.1:p.Leu551=;NP_001120933.1:p.Leu551=;NP_001120934.1:p.Leu551=;NP_001230062.1:p.Leu549=;NP_004886.3:p.Leu551=;NP_899632.1:p.Leu551= 491238178 144469697 chr1_245655019 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588404T>C;NG_007509.2:g.13930T>C;NM_001079821.2:c.1659T>C;NM_001127461.2:c.1659T>C;NM_001127462.2:c.1659T>C;NM_001243133.1:c.1653T>C;NM_004895.4:c.1659T>C;NM_183395.2:c.1659T>C;NP_001073289.1:p.Leu553=;NP_001120933.1:p.Leu553=;NP_001120934.1:p.Leu553=;NP_001230062.1:p.Leu551=;NP_004886.3:p.Leu553=;NP_899632.1:p.Leu553= 491238179 201872895 chr1_245655027 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588410C>A;NG_007509.2:g.13936C>A;NM_001079821.2:c.1665C>A;NM_001127461.2:c.1665C>A;NM_001127462.2:c.1665C>A;NM_001243133.1:c.1659C>A;NM_004895.4:c.1665C>A;NM_183395.2:c.1665C>A;NP_001073289.1:p.Ser555Arg;NP_001120933.1:p.Ser555Arg;NP_001120934.1:p.Ser555Arg;NP_001230062.1:p.Ser553Arg;NP_004886.3:p.Ser555Arg;NP_899632.1:p.Ser555Arg 491238180 200224266 chr1_245655033 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1660C>T NC_000001.10:g.247588411C>T;NG_007509.2:g.13937C>T;NM_001079821.2:c.1666C>T;NM_001127461.2:c.1666C>T;NM_001127462.2:c.1666C>T;NM_001243133.1:c.1660C>T;NM_004895.4:c.1666C>T;NM_183395.2:c.1666C>T;NP_001073289.1:p.Arg556Ter;NP_001120933.1:p.Arg556Ter;NP_001120934.1:p.Arg556Ter;NP_001230062.1:p.Arg554Ter;NP_004886.3:p.Arg556Ter;NP_899632.1:p.Arg556Ter 244254958 180177460 429 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 NHLBI-ESP 114548 NC_000001.10:g.247588416C>T;NG_007509.2:g.13942C>T;NM_001079821.2:c.1671C>T;NM_001127461.2:c.1671C>T;NM_001127462.2:c.1671C>T;NM_001243133.1:c.1665C>T;NM_004895.4:c.1671C>T;NM_183395.2:c.1671C>T;NP_001073289.1:p.Asp557=;NP_001120933.1:p.Asp557=;NP_001120934.1:p.Asp557=;NP_001230062.1:p.Asp555=;NP_004886.3:p.Asp557=;NP_899632.1:p.Asp557= 342040903 151097783 ESP2500-chr1-247588416 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588416C>T;NG_007509.2:g.13942C>T;NM_001079821.2:c.1671C>T;NM_001127461.2:c.1671C>T;NM_001127462.2:c.1671C>T;NM_001243133.1:c.1665C>T;NM_004895.4:c.1671C>T;NM_183395.2:c.1671C>T;NP_001073289.1:p.Asp557=;NP_001120933.1:p.Asp557=;NP_001120934.1:p.Asp557=;NP_001230062.1:p.Asp555=;NP_004886.3:p.Asp557=;NP_899632.1:p.Asp557= 491238181 151097783 chr1_245655039 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588417G>A;NG_007509.2:g.13943G>A;NM_001079821.2:c.1672G>A;NM_001127461.2:c.1672G>A;NM_001127462.2:c.1672G>A;NM_001243133.1:c.1666G>A;NM_004895.4:c.1672G>A;NM_183395.2:c.1672G>A;NP_001073289.1:p.Val558Met;NP_001120933.1:p.Val558Met;NP_001120934.1:p.Val558Met;NP_001230062.1:p.Val556Met;NP_004886.3:p.Val558Met;NP_899632.1:p.Val558Met 491238182 199637520 chr1_245655040 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1669A>G NC_000001.10:g.247588420A>G;NG_007509.2:g.13946A>G;NM_001079821.2:c.1675A>G;NM_001127461.2:c.1675A>G;NM_001127462.2:c.1675A>G;NM_001243133.1:c.1669A>G;NM_004895.4:c.1675A>G;NM_183395.2:c.1675A>G;NP_001073289.1:p.Thr559Ala;NP_001120933.1:p.Thr559Ala;NP_001120934.1:p.Thr559Ala;NP_001230062.1:p.Thr557Ala;NP_004886.3:p.Thr559Ala;NP_899632.1:p.Thr559Ala 469341485 180177461 450 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247588422A>G;NG_007509.2:g.13948A>G;NM_001079821.2:c.1677A>G;NM_001127461.2:c.1677A>G;NM_001127462.2:c.1677A>G;NM_001243133.1:c.1671A>G;NM_004895.4:c.1677A>G;NM_183395.2:c.1677A>G;NP_001073289.1:p.Thr559=;NP_001120933.1:p.Thr559=;NP_001120934.1:p.Thr559=;NP_001230062.1:p.Thr557=;NP_004886.3:p.Thr559=;NP_899632.1:p.Thr559= 165636084 112755296 NA19240_36_chr1_245655045 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588422A>G;NG_007509.2:g.13948A>G;NM_001079821.2:c.1677A>G;NM_001127461.2:c.1677A>G;NM_001127462.2:c.1677A>G;NM_001243133.1:c.1671A>G;NM_004895.4:c.1677A>G;NM_183395.2:c.1677A>G;NP_001073289.1:p.Thr559=;NP_001120933.1:p.Thr559=;NP_001120934.1:p.Thr559=;NP_001230062.1:p.Thr557=;NP_004886.3:p.Thr559=;NP_899632.1:p.Thr559= 491238183 112755296 chr1_245655045 2012.03.02 2012.03.02 2010.07.04 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1687T>A NC_000001.10:g.247588438T>A;NG_007509.2:g.13964T>A;NM_001079821.2:c.1693T>A;NM_001127461.2:c.1693T>A;NM_001127462.2:c.1693T>A;NM_001243133.1:c.1687T>A;NM_004895.4:c.1693T>A;NM_183395.2:c.1693T>A;NP_001073289.1:p.Tyr565Asn;NP_001120933.1:p.Tyr565Asn;NP_001120934.1:p.Tyr565Asn;NP_001230062.1:p.Tyr563Asn;NP_004886.3:p.Tyr565Asn;NP_899632.1:p.Tyr565Asn 469341500 180177479 593 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588440T>C;NG_007509.2:g.13966T>C;NM_001079821.2:c.1695T>C;NM_001127461.2:c.1695T>C;NM_001127462.2:c.1695T>C;NM_001243133.1:c.1689T>C;NM_004895.4:c.1695T>C;NM_183395.2:c.1695T>C;NP_001073289.1:p.Tyr565=;NP_001120933.1:p.Tyr565=;NP_001120934.1:p.Tyr565=;NP_001230062.1:p.Tyr563=;NP_004886.3:p.Tyr565=;NP_899632.1:p.Tyr565= 491238184 201517763 chr1_245655063 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1699G>A NC_000001.10:g.247588450G>A;NC_000001.10:g.247588450G>C;NG_007509.2:g.13976G>A;NG_007509.2:g.13976G>C;NM_001079821.2:c.1705G>A;NM_001079821.2:c.1705G>C;NM_001127461.2:c.1705G>A;NM_001127461.2:c.1705G>C;NM_001127462.2:c.1705G>A;NM_001127462.2:c.1705G>C;NM_001243133.1:c.1699G>A;NM_001243133.1:c.1699G>C;NM_004895.4:c.1705G>A;NM_004895.4:c.1705G>C;NM_183395.2:c.1705G>A;NM_183395.2:c.1705G>C;NP_001073289.1:p.Glu569Gln;NP_001073289.1:p.Glu569Lys;NP_001120933.1:p.Glu569Gln;NP_001120933.1:p.Glu569Lys;NP_001120934.1:p.Glu569Gln;NP_001120934.1:p.Glu569Lys;NP_001230062.1:p.Glu567Gln;NP_001230062.1:p.Glu567Lys;NP_004886.3:p.Glu569Gln;NP_004886.3:p.Glu569Lys;NP_899632.1:p.Glu569Gln;NP_899632.1:p.Glu569Lys 469341508 104895389 643 untested 2011.09.08 2011.09.08 2010.06.07 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1705G>C NC_000001.10:g.247588456G>C;NG_007509.2:g.13982G>C;NM_001079821.2:c.1711G>C;NM_001127461.2:c.1711G>C;NM_001127462.2:c.1711G>C;NM_001243133.1:c.1705G>C;NM_004895.4:c.1711G>C;NM_183395.2:c.1711G>C;NP_001073289.1:p.Gly571Arg;NP_001120933.1:p.Gly571Arg;NP_001120934.1:p.Gly571Arg;NP_001230062.1:p.Gly569Arg;NP_004886.3:p.Gly571Arg;NP_899632.1:p.Gly571Arg 244254943 121908151 113 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NM_004895.4:c.1711G>C NC_000001.10:g.247588456G>C;NG_007509.2:g.13982G>C;NM_001079821.2:c.1711G>C;NM_001127461.2:c.1711G>C;NM_001127462.2:c.1711G>C;NM_001243133.1:c.1705G>C;NM_004895.4:c.1711G>C;NM_183395.2:c.1711G>C;NP_001073289.1:p.Gly571Arg;NP_001120933.1:p.Gly571Arg;NP_001120934.1:p.Gly571Arg;NP_001230062.1:p.Gly569Arg;NP_004886.3:p.Gly571Arg;NP_899632.1:p.Gly571Arg 262857608 121908151 13775 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1706G>C NC_000001.10:g.247588457G>C;NG_007509.2:g.13983G>C;NM_001079821.2:c.1712G>C;NM_001127461.2:c.1712G>C;NM_001127462.2:c.1712G>C;NM_001243133.1:c.1706G>C;NM_004895.4:c.1712G>C;NM_183395.2:c.1712G>C;NP_001073289.1:p.Gly571Ala;NP_001120933.1:p.Gly571Ala;NP_001120934.1:p.Gly571Ala;NP_001230062.1:p.Gly569Ala;NP_004886.3:p.Gly571Ala;NP_899632.1:p.Gly571Ala 469341512 180177491 740 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1709A>G NC_000001.10:g.247588460A>G;NC_000001.10:g.247588460A>T;NG_007509.2:g.13986A>G;NG_007509.2:g.13986A>T;NM_001079821.2:c.1715A>G;NM_001079821.2:c.1715A>T;NM_001127461.2:c.1715A>G;NM_001127461.2:c.1715A>T;NM_001127462.2:c.1715A>G;NM_001127462.2:c.1715A>T;NM_001243133.1:c.1709A>G;NM_001243133.1:c.1709A>T;NM_004895.4:c.1715A>G;NM_004895.4:c.1715A>T;NM_183395.2:c.1715A>G;NM_183395.2:c.1715A>T;NP_001073289.1:p.Tyr572Cys;NP_001073289.1:p.Tyr572Phe;NP_001120933.1:p.Tyr572Cys;NP_001120933.1:p.Tyr572Phe;NP_001120934.1:p.Tyr572Cys;NP_001120934.1:p.Tyr572Phe;NP_001230062.1:p.Tyr570Cys;NP_001230062.1:p.Tyr570Phe;NP_004886.3:p.Tyr572Cys;NP_004886.3:p.Tyr572Phe;NP_899632.1:p.Tyr572Cys;NP_899632.1:p.Tyr572Phe 244254948 180177438 139 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1709A>T NC_000001.10:g.247588460A>G;NC_000001.10:g.247588460A>T;NG_007509.2:g.13986A>G;NG_007509.2:g.13986A>T;NM_001079821.2:c.1715A>G;NM_001079821.2:c.1715A>T;NM_001127461.2:c.1715A>G;NM_001127461.2:c.1715A>T;NM_001127462.2:c.1715A>G;NM_001127462.2:c.1715A>T;NM_001243133.1:c.1709A>G;NM_001243133.1:c.1709A>T;NM_004895.4:c.1715A>G;NM_004895.4:c.1715A>T;NM_183395.2:c.1715A>G;NM_183395.2:c.1715A>T;NP_001073289.1:p.Tyr572Cys;NP_001073289.1:p.Tyr572Phe;NP_001120933.1:p.Tyr572Cys;NP_001120933.1:p.Tyr572Phe;NP_001120934.1:p.Tyr572Cys;NP_001120934.1:p.Tyr572Phe;NP_001230062.1:p.Tyr570Cys;NP_001230062.1:p.Tyr570Phe;NP_004886.3:p.Tyr572Cys;NP_004886.3:p.Tyr572Phe;NP_899632.1:p.Tyr572Cys;NP_899632.1:p.Tyr572Phe 244254959 180177438 470 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.28 137 UMAI 114548 NM_001243133.1:c.1713G>T NC_000001.10:g.247588464G>T;NG_007509.2:g.13990G>T;NM_001079821.2:c.1719G>T;NM_001127461.2:c.1719G>T;NM_001127462.2:c.1719G>T;NM_001243133.1:c.1713G>T;NM_004895.4:c.1719G>T;NM_183395.2:c.1719G>T;NP_001073289.1:p.Leu573Phe;NP_001120933.1:p.Leu573Phe;NP_001120934.1:p.Leu573Phe;NP_001230062.1:p.Leu571Phe;NP_004886.3:p.Leu573Phe;NP_899632.1:p.Leu573Phe 244254966 180177489 681 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1714A>T NC_000001.10:g.247588465A>T;NG_007509.2:g.13991A>T;NM_001079821.2:c.1720A>T;NM_001127461.2:c.1720A>T;NM_001127462.2:c.1720A>T;NM_001243133.1:c.1714A>T;NM_004895.4:c.1720A>T;NM_183395.2:c.1720A>T;NP_001073289.1:p.Ile574Phe;NP_001120933.1:p.Ile574Phe;NP_001120934.1:p.Ile574Phe;NP_001230062.1:p.Ile572Phe;NP_004886.3:p.Ile574Phe;NP_899632.1:p.Ile574Phe 469341511 180177490 682 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1718T>C NC_000001.10:g.247588469T>C;NG_007509.2:g.13995T>C;NM_001079821.2:c.1724T>C;NM_001127461.2:c.1724T>C;NM_001127462.2:c.1724T>C;NM_001243133.1:c.1718T>C;NM_004895.4:c.1724T>C;NM_183395.2:c.1724T>C;NP_001073289.1:p.Phe575Ser;NP_001120933.1:p.Phe575Ser;NP_001120934.1:p.Phe575Ser;NP_001230062.1:p.Phe573Ser;NP_004886.3:p.Phe575Ser;NP_899632.1:p.Phe575Ser 244254944 121908152 123 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.PHE575SER NC_000001.10:g.247588469T>C;NG_007509.2:g.13995T>C;NM_001079821.2:c.1724T>C;NM_001127461.2:c.1724T>C;NM_001127462.2:c.1724T>C;NM_001243133.1:c.1718T>C;NM_004895.4:c.1724T>C;NM_183395.2:c.1724T>C;NP_001073289.1:p.Phe575Ser;NP_001120933.1:p.Phe575Ser;NP_001120934.1:p.Phe575Ser;NP_001230062.1:p.Phe573Ser;NP_004886.3:p.Phe575Ser;NP_899632.1:p.Phe575Ser 262857609 121908152 13776 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588482C>G;NG_007509.2:g.14008C>G;NM_001079821.2:c.1737C>G;NM_001127461.2:c.1737C>G;NM_001127462.2:c.1737C>G;NM_001243133.1:c.1731C>G;NM_004895.4:c.1737C>G;NM_183395.2:c.1737C>G;NP_001073289.1:p.Phe579Leu;NP_001120933.1:p.Phe579Leu;NP_001120934.1:p.Phe579Leu;NP_001230062.1:p.Phe577Leu;NP_004886.3:p.Phe579Leu;NP_899632.1:p.Phe579Leu 491619247 200758008 SNV-chr1-245655105 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588508G>A;NG_007509.2:g.14034G>A;NM_001079821.2:c.1763G>A;NM_001127461.2:c.1763G>A;NM_001127462.2:c.1763G>A;NM_001243133.1:c.1757G>A;NM_004895.4:c.1763G>A;NM_183395.2:c.1763G>A;NP_001073289.1:p.Arg588Lys;NP_001120933.1:p.Arg588Lys;NP_001120934.1:p.Arg588Lys;NP_001230062.1:p.Arg586Lys;NP_004886.3:p.Arg588Lys;NP_899632.1:p.Arg588Lys 342040904 142624094 ESP2500-chr1-247588508 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 UMAI 114548 NM_001243133.1:c.1760C>T NC_000001.10:g.247588511C>T;NG_007509.2:g.14037C>T;NM_001079821.2:c.1766C>T;NM_001127461.2:c.1766C>T;NM_001127462.2:c.1766C>T;NM_001243133.1:c.1760C>T;NM_004895.4:c.1766C>T;NM_183395.2:c.1766C>T;NP_001073289.1:p.Thr589Ile;NP_001120933.1:p.Thr589Ile;NP_001120934.1:p.Thr589Ile;NP_001230062.1:p.Thr587Ile;NP_004886.3:p.Thr589Ile;NP_899632.1:p.Thr589Ile 469341490 180177467 510 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 YSAMUELS 114548 NC_000001.9:g.245655182G>A NC_000001.10:g.247588559G>A;NG_007509.2:g.14085G>A;NM_001079821.2:c.1814G>A;NM_001127461.2:c.1814G>A;NM_001127462.2:c.1814G>A;NM_001243133.1:c.1808G>A;NM_004895.4:c.1814G>A;NM_183395.2:c.1814G>A;NP_001073289.1:p.Arg605Lys;NP_001120933.1:p.Arg605Lys;NP_001120934.1:p.Arg605Lys;NP_001230062.1:p.Arg603Lys;NP_004886.3:p.Arg605Lys;NP_899632.1:p.Arg605Lys 344938143 138802458 NC_000001.9:g.245655182G>A somatic untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 YSAMUELS 114548 NC_000001.9:g.245655183G>A NC_000001.10:g.247588560G>A;NG_007509.2:g.14086G>A;NM_001079821.2:c.1815G>A;NM_001127461.2:c.1815G>A;NM_001127462.2:c.1815G>A;NM_001243133.1:c.1809G>A;NM_004895.4:c.1815G>A;NM_183395.2:c.1815G>A;NP_001073289.1:p.Arg605=;NP_001120933.1:p.Arg605=;NP_001120934.1:p.Arg605=;NP_001230062.1:p.Arg603=;NP_004886.3:p.Arg605=;NP_899632.1:p.Arg605= 344938144 141349813 NC_000001.9:g.245655183G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247588562T>A;NG_007509.2:g.14088T>A;NM_001079821.2:c.1817T>A;NM_001127461.2:c.1817T>A;NM_001127462.2:c.1817T>A;NM_001243133.1:c.1811T>A;NM_004895.4:c.1817T>A;NM_183395.2:c.1817T>A;NP_001073289.1:p.Leu606Gln;NP_001120933.1:p.Leu606Gln;NP_001120934.1:p.Leu606Gln;NP_001230062.1:p.Leu604Gln;NP_004886.3:p.Leu606Gln;NP_899632.1:p.Leu606Gln 491238185 199530514 chr1_245655185 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588569G>A;NG_007509.2:g.14095G>A;NM_001079821.2:c.1824G>A;NM_001127461.2:c.1824G>A;NM_001127462.2:c.1824G>A;NM_001243133.1:c.1818G>A;NM_004895.4:c.1824G>A;NM_183395.2:c.1824G>A;NP_001073289.1:p.Leu608=;NP_001120933.1:p.Leu608=;NP_001120934.1:p.Leu608=;NP_001230062.1:p.Leu606=;NP_004886.3:p.Leu608=;NP_899632.1:p.Leu608= 491238186 200588919 chr1_245655192 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588609C>A;NG_007509.2:g.14135C>A;NM_001079821.2:c.1864C>A;NM_001127461.2:c.1864C>A;NM_001127462.2:c.1864C>A;NM_001243133.1:c.1858C>A;NM_004895.4:c.1864C>A;NM_183395.2:c.1864C>A;NP_001073289.1:p.Gln622Lys;NP_001120933.1:p.Gln622Lys;NP_001120934.1:p.Gln622Lys;NP_001230062.1:p.Gln620Lys;NP_004886.3:p.Gln622Lys;NP_899632.1:p.Gln622Lys 342040906 147876634 ESP2500-chr1-247588609 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247588617G>C;NG_007509.2:g.14143G>C;NM_001079821.2:c.1872G>C;NM_001127461.2:c.1872G>C;NM_001127462.2:c.1872G>C;NM_001243133.1:c.1866G>C;NM_004895.4:c.1872G>C;NM_183395.2:c.1872G>C;NP_001073289.1:p.Gln624His;NP_001120933.1:p.Gln624His;NP_001120934.1:p.Gln624His;NP_001230062.1:p.Gln622His;NP_004886.3:p.Gln624His;NP_899632.1:p.Gln624His 491238187 201764236 chr1_245655240 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1880A>G NC_000001.10:g.247588631A>G;NG_007509.2:g.14157A>G;NM_001079821.2:c.1886A>G;NM_001127461.2:c.1886A>G;NM_001127462.2:c.1886A>G;NM_001243133.1:c.1880A>G;NM_004895.4:c.1886A>G;NM_183395.2:c.1886A>G;NP_001073289.1:p.Glu629Gly;NP_001120933.1:p.Glu629Gly;NP_001120934.1:p.Glu629Gly;NP_001230062.1:p.Glu627Gly;NP_004886.3:p.Glu629Gly;NP_899632.1:p.Glu629Gly 244254939 121908148 101 germline pathogenic 2011.09.08 2011.09.08 2010.09.17 2012.09.26 137 OMIM-CURATED-RECORDS 114548 NP_004886.3:p.E629G NC_000001.10:g.247588631A>G;NG_007509.2:g.14157A>G;NM_001079821.2:c.1886A>G;NM_001127461.2:c.1886A>G;NM_001127462.2:c.1886A>G;NM_001243133.1:c.1880A>G;NM_004895.4:c.1886A>G;NM_183395.2:c.1886A>G;NP_001073289.1:p.Glu629Gly;NP_001120933.1:p.Glu629Gly;NP_001120934.1:p.Glu629Gly;NP_001230062.1:p.Glu627Gly;NP_004886.3:p.Glu629Gly;NP_899632.1:p.Glu629Gly 262857605 121908148 13772 germline pathogenic 2010.09.17 2010.09.17 2010.09.17 2012.09.26 137 UMAI 114548 NM_001243133.1:c.1896G>T NC_000001.10:g.247588647G>T;NG_007509.2:g.14173G>T;NM_001079821.2:c.1902G>T;NM_001127461.2:c.1902G>T;NM_001127462.2:c.1902G>T;NM_001243133.1:c.1896G>T;NM_004895.4:c.1902G>T;NM_183395.2:c.1902G>T;NP_001073289.1:p.Leu634Phe;NP_001120933.1:p.Leu634Phe;NP_001120934.1:p.Leu634Phe;NP_001230062.1:p.Leu632Phe;NP_004886.3:p.Leu634Phe;NP_899632.1:p.Leu634Phe 469341475 180177446 312 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588650C>T;NG_007509.2:g.14176C>T;NM_001079821.2:c.1905C>T;NM_001127461.2:c.1905C>T;NM_001127462.2:c.1905C>T;NM_001243133.1:c.1899C>T;NM_004895.4:c.1905C>T;NM_183395.2:c.1905C>T;NP_001073289.1:p.Tyr635=;NP_001120933.1:p.Tyr635=;NP_001120934.1:p.Tyr635=;NP_001230062.1:p.Tyr633=;NP_004886.3:p.Tyr635=;NP_899632.1:p.Tyr635= 491238188 200089426 chr1_245655273 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 APPLERA_GI 114548 NC_000001.10:g.247588671C>T;NG_007509.2:g.14197C>T;NM_001079821.2:c.1926C>T;NM_001127461.2:c.1926C>T;NM_001127462.2:c.1926C>T;NM_001243133.1:c.1920C>T;NM_004895.4:c.1926C>T;NM_183395.2:c.1926C>T;NP_001073289.1:p.Phe642=;NP_001120933.1:p.Phe642=;NP_001120934.1:p.Phe642=;NP_001230062.1:p.Phe640=;NP_004886.3:p.Phe642=;NP_899632.1:p.Phe642= 48410409 34698071 hCV25648616 1.80e-03 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588671C>T;NG_007509.2:g.14197C>T;NM_001079821.2:c.1926C>T;NM_001127461.2:c.1926C>T;NM_001127462.2:c.1926C>T;NM_001243133.1:c.1920C>T;NM_004895.4:c.1926C>T;NM_183395.2:c.1926C>T;NP_001073289.1:p.Phe642=;NP_001120933.1:p.Phe642=;NP_001120934.1:p.Phe642=;NP_001230062.1:p.Phe640=;NP_004886.3:p.Phe642=;NP_899632.1:p.Phe642= 329363763 34698071 20100804_snps_1007299_chr1_247588671 1.80e-03 2011.03.22 2011.03.22 2006.03.14 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588671C>T;NG_007509.2:g.14197C>T;NM_001079821.2:c.1926C>T;NM_001127461.2:c.1926C>T;NM_001127462.2:c.1926C>T;NM_001243133.1:c.1920C>T;NM_004895.4:c.1926C>T;NM_183395.2:c.1926C>T;NP_001073289.1:p.Phe642=;NP_001120933.1:p.Phe642=;NP_001120934.1:p.Phe642=;NP_001230062.1:p.Phe640=;NP_004886.3:p.Phe642=;NP_899632.1:p.Phe642= 342040910 34698071 ESP2500-chr1-247588671 1.80e-03 2011.03.26 2011.03.26 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588671C>T;NG_007509.2:g.14197C>T;NM_001079821.2:c.1926C>T;NM_001127461.2:c.1926C>T;NM_001127462.2:c.1926C>T;NM_001243133.1:c.1920C>T;NM_004895.4:c.1926C>T;NM_183395.2:c.1926C>T;NP_001073289.1:p.Phe642=;NP_001120933.1:p.Phe642=;NP_001120934.1:p.Phe642=;NP_001230062.1:p.Phe640=;NP_004886.3:p.Phe642=;NP_899632.1:p.Phe642= 489800510 34698071 20110521_exome_333978_chr1_247588671 1.80e-03 2012.02.15 2012.02.21 2006.03.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588671C>T;NG_007509.2:g.14197C>T;NM_001079821.2:c.1926C>T;NM_001127461.2:c.1926C>T;NM_001127462.2:c.1926C>T;NM_001243133.1:c.1920C>T;NM_004895.4:c.1926C>T;NM_183395.2:c.1926C>T;NP_001073289.1:p.Phe642=;NP_001120933.1:p.Phe642=;NP_001120934.1:p.Phe642=;NP_001230062.1:p.Phe640=;NP_004886.3:p.Phe642=;NP_899632.1:p.Phe642= 491238189 34698071 chr1_245655294 1.80e-03 2012.03.02 2012.03.02 2006.03.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588683C>A;NG_007509.2:g.14209C>A;NM_001079821.2:c.1938C>A;NM_001127461.2:c.1938C>A;NM_001127462.2:c.1938C>A;NM_001243133.1:c.1932C>A;NM_004895.4:c.1938C>A;NM_183395.2:c.1938C>A;NP_001073289.1:p.Ala646=;NP_001120933.1:p.Ala646=;NP_001120934.1:p.Ala646=;NP_001230062.1:p.Ala644=;NP_004886.3:p.Ala646=;NP_899632.1:p.Ala646= 491238190 201642997 chr1_245655306 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588687G>T;NG_007509.2:g.14213G>T;NM_001079821.2:c.1942G>T;NM_001127461.2:c.1942G>T;NM_001127462.2:c.1942G>T;NM_001243133.1:c.1936G>T;NM_004895.4:c.1942G>T;NM_183395.2:c.1942G>T;NP_001073289.1:p.Asp648Tyr;NP_001120933.1:p.Asp648Tyr;NP_001120934.1:p.Asp648Tyr;NP_001230062.1:p.Asp646Tyr;NP_004886.3:p.Asp648Tyr;NP_899632.1:p.Asp648Tyr 342040912 138061418 ESP2500-chr1-247588687 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588687G>T;NG_007509.2:g.14213G>T;NM_001079821.2:c.1942G>T;NM_001127461.2:c.1942G>T;NM_001127462.2:c.1942G>T;NM_001243133.1:c.1936G>T;NM_004895.4:c.1942G>T;NM_183395.2:c.1942G>T;NP_001073289.1:p.Asp648Tyr;NP_001120933.1:p.Asp648Tyr;NP_001120934.1:p.Asp648Tyr;NP_001230062.1:p.Asp646Tyr;NP_004886.3:p.Asp648Tyr;NP_899632.1:p.Asp648Tyr 491238191 138061418 chr1_245655310 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247588687G>T;NG_007509.2:g.14213G>T;NM_001079821.2:c.1942G>T;NM_001127461.2:c.1942G>T;NM_001127462.2:c.1942G>T;NM_001243133.1:c.1936G>T;NM_004895.4:c.1942G>T;NM_183395.2:c.1942G>T;NP_001073289.1:p.Asp648Tyr;NP_001120933.1:p.Asp648Tyr;NP_001120934.1:p.Asp648Tyr;NP_001230062.1:p.Asp646Tyr;NP_004886.3:p.Asp648Tyr;NP_899632.1:p.Asp648Tyr 491313836 138061418 nonsyn_30063_chr_1_247588687 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588687G>T;NG_007509.2:g.14213G>T;NM_001079821.2:c.1942G>T;NM_001127461.2:c.1942G>T;NM_001127462.2:c.1942G>T;NM_001243133.1:c.1936G>T;NM_004895.4:c.1942G>T;NM_183395.2:c.1942G>T;NP_001073289.1:p.Asp648Tyr;NP_001120933.1:p.Asp648Tyr;NP_001120934.1:p.Asp648Tyr;NP_001230062.1:p.Asp646Tyr;NP_004886.3:p.Asp648Tyr;NP_899632.1:p.Asp648Tyr 491619248 138061418 SNV-chr1-245655310 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588709T>C;NG_007509.2:g.14235T>C;NM_001079821.2:c.1964T>C;NM_001127461.2:c.1964T>C;NM_001127462.2:c.1964T>C;NM_001243133.1:c.1958T>C;NM_004895.4:c.1964T>C;NM_183395.2:c.1964T>C;NP_001073289.1:p.Ile655Thr;NP_001120933.1:p.Ile655Thr;NP_001120934.1:p.Ile655Thr;NP_001230062.1:p.Ile653Thr;NP_004886.3:p.Ile655Thr;NP_899632.1:p.Ile655Thr 491238192 201108638 chr1_245655332 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588721C>T;NG_007509.2:g.14247C>T;NM_001079821.2:c.1976C>T;NM_001127461.2:c.1976C>T;NM_001127462.2:c.1976C>T;NM_001243133.1:c.1970C>T;NM_004895.4:c.1976C>T;NM_183395.2:c.1976C>T;NP_001073289.1:p.Thr659Ile;NP_001120933.1:p.Thr659Ile;NP_001120934.1:p.Thr659Ile;NP_001230062.1:p.Thr657Ile;NP_004886.3:p.Thr659Ile;NP_899632.1:p.Thr659Ile 491238193 201875324 chr1_245655344 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.1976T>A NC_000001.10:g.247588727T>A;NG_007509.2:g.14253T>A;NM_001079821.2:c.1982T>A;NM_001127461.2:c.1982T>A;NM_001127462.2:c.1982T>A;NM_001243133.1:c.1976T>A;NM_004895.4:c.1982T>A;NM_183395.2:c.1982T>A;NP_001073289.1:p.Met661Lys;NP_001120933.1:p.Met661Lys;NP_001120934.1:p.Met661Lys;NP_001230062.1:p.Met659Lys;NP_004886.3:p.Met661Lys;NP_899632.1:p.Met661Lys 469341483 180177457 409 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 UMAI 114548 NM_001243133.1:c.1985T>C NC_000001.10:g.247588736T>C;NG_007509.2:g.14262T>C;NM_001079821.2:c.1991T>C;NM_001127461.2:c.1991T>C;NM_001127462.2:c.1991T>C;NM_001243133.1:c.1985T>C;NM_004895.4:c.1991T>C;NM_183395.2:c.1991T>C;NP_001073289.1:p.Met664Thr;NP_001120933.1:p.Met664Thr;NP_001120934.1:p.Met664Thr;NP_001230062.1:p.Met662Thr;NP_004886.3:p.Met664Thr;NP_899632.1:p.Met664Thr 469341463 180177435 127 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588763G>C;NG_007509.2:g.14289G>C;NM_001079821.2:c.2018G>C;NM_001127461.2:c.2018G>C;NM_001127462.2:c.2018G>C;NM_001243133.1:c.2012G>C;NM_004895.4:c.2018G>C;NM_183395.2:c.2018G>C;NP_001073289.1:p.Cys673Ser;NP_001120933.1:p.Cys673Ser;NP_001120934.1:p.Cys673Ser;NP_001230062.1:p.Cys671Ser;NP_004886.3:p.Cys673Ser;NP_899632.1:p.Cys673Ser 491238194 199885115 chr1_245655386 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588765C>A;NG_007509.2:g.14291C>A;NM_001079821.2:c.2020C>A;NM_001127461.2:c.2020C>A;NM_001127462.2:c.2020C>A;NM_001243133.1:c.2014C>A;NM_004895.4:c.2020C>A;NM_183395.2:c.2020C>A;NP_001073289.1:p.His674Asn;NP_001120933.1:p.His674Asn;NP_001120934.1:p.His674Asn;NP_001230062.1:p.His672Asn;NP_004886.3:p.His674Asn;NP_899632.1:p.His674Asn 491238195 200811660 chr1_245655388 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588769G>A;NG_007509.2:g.14295G>A;NM_001079821.2:c.2024G>A;NM_001127461.2:c.2024G>A;NM_001127462.2:c.2024G>A;NM_001243133.1:c.2018G>A;NM_004895.4:c.2024G>A;NM_183395.2:c.2024G>A;NP_001073289.1:p.Arg675Gln;NP_001120933.1:p.Arg675Gln;NP_001120934.1:p.Arg675Gln;NP_001230062.1:p.Arg673Gln;NP_004886.3:p.Arg675Gln;NP_899632.1:p.Arg675Gln 342040913 142651552 ESP2500-chr1-247588769 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247588791G>T;NG_007509.2:g.14317G>T;NM_001079821.2:c.2046G>T;NM_001127461.2:c.2046G>T;NM_001127462.2:c.2046G>T;NM_001243133.1:c.2040G>T;NM_004895.4:c.2046G>T;NM_183395.2:c.2046G>T;NP_001073289.1:p.Gly682=;NP_001120933.1:p.Gly682=;NP_001120934.1:p.Gly682=;NP_001230062.1:p.Gly680=;NP_004886.3:p.Gly682=;NP_899632.1:p.Gly682= 491238196 201794702 chr1_245655414 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.2062G>A NC_000001.10:g.247588813G>A;NG_007509.2:g.14339G>A;NM_001079821.2:c.2068G>A;NM_001127461.2:c.2068G>A;NM_001127462.2:c.2068G>A;NM_001243133.1:c.2062G>A;NM_004895.4:c.2068G>A;NM_183395.2:c.2068G>A;NP_001073289.1:p.Glu690Lys;NP_001120933.1:p.Glu690Lys;NP_001120934.1:p.Glu690Lys;NP_001230062.1:p.Glu688Lys;NP_004886.3:p.Glu690Lys;NP_899632.1:p.Glu690Lys 469341506 104895414 612 untested 2011.09.08 2011.09.08 2010.06.07 2012.11.19 137 UMAI 114548 NM_001243133.1:c.2068G>A NC_000001.10:g.247588819G>A;NG_007509.2:g.14345G>A;NM_001079821.2:c.2074G>A;NM_001127461.2:c.2074G>A;NM_001127462.2:c.2074G>A;NM_001243133.1:c.2068G>A;NM_004895.4:c.2074G>A;NM_183395.2:c.2074G>A;NP_001073289.1:p.Glu692Lys;NP_001120933.1:p.Glu692Lys;NP_001120934.1:p.Glu692Lys;NP_001230062.1:p.Glu690Lys;NP_004886.3:p.Glu692Lys;NP_899632.1:p.Glu692Lys 244254968 180177495 751 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247588838G>A;NG_007509.2:g.14364G>A;NM_001079821.2:c.2093G>A;NM_001127461.2:c.2093G>A;NM_001127462.2:c.2093G>A;NM_001243133.1:c.2087G>A;NM_004895.4:c.2093G>A;NM_183395.2:c.2093G>A;NP_001073289.1:p.Gly698Asp;NP_001120933.1:p.Gly698Asp;NP_001120934.1:p.Gly698Asp;NP_001230062.1:p.Gly696Asp;NP_004886.3:p.Gly698Asp;NP_899632.1:p.Gly698Asp 491238197 200483614 chr1_245655461 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588842A>G;NG_007509.2:g.14368A>G;NM_001079821.2:c.2097A>G;NM_001127461.2:c.2097A>G;NM_001127462.2:c.2097A>G;NM_001243133.1:c.2091A>G;NM_004895.4:c.2097A>G;NM_183395.2:c.2097A>G;NP_001073289.1:p.Arg699=;NP_001120933.1:p.Arg699=;NP_001120934.1:p.Arg699=;NP_001230062.1:p.Arg697=;NP_004886.3:p.Arg699=;NP_899632.1:p.Arg699= 491238198 201365203 chr1_245655465 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.2102T>C NC_000001.10:g.247588853T>C;NG_007509.2:g.14379T>C;NM_001079821.2:c.2108T>C;NM_001127461.2:c.2108T>C;NM_001127462.2:c.2108T>C;NM_001243133.1:c.2102T>C;NM_004895.4:c.2108T>C;NM_183395.2:c.2108T>C;NP_001073289.1:p.Met703Thr;NP_001120933.1:p.Met703Thr;NP_001120934.1:p.Met703Thr;NP_001230062.1:p.Met701Thr;NP_004886.3:p.Met703Thr;NP_899632.1:p.Met703Thr 244254969 180177497 814 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 GSK-GENETICS 114548 NC_000001.10:g.247588857G>A;NG_007509.2:g.14383G>A;NM_001079821.2:c.2112G>A;NM_001127461.2:c.2112G>A;NM_001127462.2:c.2112G>A;NM_001243133.1:c.2106G>A;NM_004895.4:c.2112G>A;NM_183395.2:c.2112G>A;NP_001073289.1:p.Val704=;NP_001120933.1:p.Val704=;NP_001120934.1:p.Val704=;NP_001230062.1:p.Val702=;NP_004886.3:p.Val704=;NP_899632.1:p.Val704= 491238199 201955577 chr1_245655480 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 APPLERA_GI 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 48410408 35829419 hCV25648615 2.15e-02 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 68800565 35829419 PGP17791123 2.15e-02 2007.01.30 2008.03.31 2006.03.15 2012.11.28 137 CANCER-GENOME 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 86342364 35829419 35530 2.15e-02 2008.01.25 2008.01.25 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 109136473 35829419 CEU.trio.12.15.2008_293419_chr1_245655481 2.15e-02 2008.12.16 2008.12.16 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 230995441 35829419 pilot_1_CEU_600070_chr1_245655481 2.15e-02 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 342040917 35829419 ESP2500-chr1-247588858 2.15e-02 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 489800512 35829419 20110521_exome_333979_chr1_247588858 2.15e-02 2012.02.15 2012.02.21 2006.03.15 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 491238200 35829419 chr1_245655481 2.15e-02 2012.03.02 2012.03.02 2006.03.15 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 491313837 35829419 nonsyn_30064_chr_1_247588858 2.15e-02 2012.03.05 2012.03.05 2006.03.15 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588858C>A;NG_007509.2:g.14384C>A;NM_001079821.2:c.2113C>A;NM_001127461.2:c.2113C>A;NM_001127462.2:c.2113C>A;NM_001243133.1:c.2107C>A;NM_004895.4:c.2113C>A;NM_183395.2:c.2113C>A;NP_001073289.1:p.Gln705Lys;NP_001120933.1:p.Gln705Lys;NP_001120934.1:p.Gln705Lys;NP_001230062.1:p.Gln703Lys;NP_004886.3:p.Gln705Lys;NP_899632.1:p.Gln705Lys 491619249 35829419 SNV-chr1-245655481 2.15e-02 2012.03.06 2012.03.12 2006.03.15 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588866C>T;NG_007509.2:g.14392C>T;NM_001079821.2:c.2121C>T;NM_001127461.2:c.2121C>T;NM_001127462.2:c.2121C>T;NM_001243133.1:c.2115C>T;NM_004895.4:c.2121C>T;NM_183395.2:c.2121C>T;NP_001073289.1:p.Val707=;NP_001120933.1:p.Val707=;NP_001120934.1:p.Val707=;NP_001230062.1:p.Val705=;NP_004886.3:p.Val707=;NP_899632.1:p.Val707= 491619250 200794137 SNV-chr1-245655489 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247588869C>T;NG_007509.2:g.14395C>T;NM_001079821.2:c.2124C>T;NM_001127461.2:c.2124C>T;NM_001127462.2:c.2124C>T;NM_001243133.1:c.2118C>T;NM_004895.4:c.2124C>T;NM_183395.2:c.2124C>T;NP_001073289.1:p.Leu708=;NP_001120933.1:p.Leu708=;NP_001120934.1:p.Leu708=;NP_001230062.1:p.Leu706=;NP_004886.3:p.Leu708=;NP_899632.1:p.Leu708= 342040919 149493236 ESP2500-chr1-247588869 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588869C>T;NG_007509.2:g.14395C>T;NM_001079821.2:c.2124C>T;NM_001127461.2:c.2124C>T;NM_001127462.2:c.2124C>T;NM_001243133.1:c.2118C>T;NM_004895.4:c.2124C>T;NM_183395.2:c.2124C>T;NP_001073289.1:p.Leu708=;NP_001120933.1:p.Leu708=;NP_001120934.1:p.Leu708=;NP_001230062.1:p.Leu706=;NP_004886.3:p.Leu708=;NP_899632.1:p.Leu708= 491238201 149493236 chr1_245655492 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588871C>A;NG_007509.2:g.14397C>A;NM_001079821.2:c.2126C>A;NM_001127461.2:c.2126C>A;NM_001127462.2:c.2126C>A;NM_001243133.1:c.2120C>A;NM_004895.4:c.2126C>A;NM_183395.2:c.2126C>A;NP_001073289.1:p.Pro709Gln;NP_001120933.1:p.Pro709Gln;NP_001120934.1:p.Pro709Gln;NP_001230062.1:p.Pro707Gln;NP_004886.3:p.Pro709Gln;NP_899632.1:p.Pro709Gln 488705571 200378519 20110521_exome_29262_chr1_247588871 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588875C>T;NG_007509.2:g.14401C>T;NM_001079821.2:c.2130C>T;NM_001127461.2:c.2130C>T;NM_001127462.2:c.2130C>T;NM_001243133.1:c.2124C>T;NM_004895.4:c.2130C>T;NM_183395.2:c.2130C>T;NP_001073289.1:p.Ser710=;NP_001120933.1:p.Ser710=;NP_001120934.1:p.Ser710=;NP_001230062.1:p.Ser708=;NP_004886.3:p.Ser710=;NP_899632.1:p.Ser710= 491238202 199764380 chr1_245655498 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.2129C>G NC_000001.10:g.247588880C>G;NG_007509.2:g.14406C>G;NM_001079821.2:c.2135C>G;NM_001127461.2:c.2135C>G;NM_001127462.2:c.2135C>G;NM_001243133.1:c.2129C>G;NM_004895.4:c.2135C>G;NM_183395.2:c.2135C>G;NP_001073289.1:p.Ser712Cys;NP_001120933.1:p.Ser712Cys;NP_001120934.1:p.Ser712Cys;NP_001230062.1:p.Ser710Cys;NP_004886.3:p.Ser712Cys;NP_899632.1:p.Ser712Cys 469341480 180177454 356 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247588885G>T;NG_007509.2:g.14411G>T;NM_001079821.2:c.2140G>T;NM_001127461.2:c.2140G>T;NM_001127462.2:c.2140G>T;NM_001243133.1:c.2134G>T;NM_004895.4:c.2140G>T;NM_183395.2:c.2140G>T;NP_001073289.1:p.Ala714Ser;NP_001120933.1:p.Ala714Ser;NP_001120934.1:p.Ala714Ser;NP_001230062.1:p.Ala712Ser;NP_004886.3:p.Ala714Ser;NP_899632.1:p.Ala714Ser 491238203 200474460 chr1_245655508 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247588891T>C;NG_007509.2:g.14417T>C;NM_001079821.2:c.2146T>C;NM_001127461.2:c.2146T>C;NM_001127462.2:c.2146T>C;NM_001243133.1:c.2140T>C;NM_004895.4:c.2146T>C;NM_183395.2:c.2146T>C;NP_001073289.1:p.Cys716Arg;NP_001120933.1:p.Cys716Arg;NP_001120934.1:p.Cys716Arg;NP_001230062.1:p.Cys714Arg;NP_004886.3:p.Cys716Arg;NP_899632.1:p.Cys716Arg 342040920 147296592 ESP2500-chr1-247588891 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247588899T>C;NG_007509.2:g.14425T>C;NM_001079821.2:c.2154T>C;NM_001127461.2:c.2154T>C;NM_001127462.2:c.2154T>C;NM_001243133.1:c.2148T>C;NM_004895.4:c.2154T>C;NM_183395.2:c.2154T>C;NP_001073289.1:p.His718=;NP_001120933.1:p.His718=;NP_001120934.1:p.His718=;NP_001230062.1:p.His716=;NP_004886.3:p.His718=;NP_899632.1:p.His718= 488705573 199592175 20110521_exome_29263_chr1_247588899 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588907G>T;NG_007509.2:g.14433G>T;NM_001079821.2:c.2156+6G>T;NM_001127461.2:c.2156+6G>T;NM_001127462.2:c.2156+6G>T;NM_001243133.1:c.2150+6G>T;NM_004895.4:c.2156+6G>T;NM_183395.2:c.2156+6G>T 491619251 202003491 SNV-chr1-245655530 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247588908A>T;NG_007509.2:g.14434A>T;NM_001079821.2:c.2156+7A>T;NM_001127461.2:c.2156+7A>T;NM_001127462.2:c.2156+7A>T;NM_001243133.1:c.2150+7A>T;NM_004895.4:c.2156+7A>T;NM_183395.2:c.2156+7A>T 491619252 200135451 SNV-chr1-245655531 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247588913C>T;NG_007509.2:g.14439C>T;NM_001079821.2:c.2156+12C>T;NM_001127461.2:c.2156+12C>T;NM_001127462.2:c.2156+12C>T;NM_001243133.1:c.2150+12C>T;NM_004895.4:c.2156+12C>T;NM_183395.2:c.2156+12C>T 491238204 201291967 chr1_245655536 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588914G>A;NG_007509.2:g.14440G>A;NM_001079821.2:c.2156+13G>A;NM_001127461.2:c.2156+13G>A;NM_001127462.2:c.2156+13G>A;NM_001243133.1:c.2150+13G>A;NM_004895.4:c.2156+13G>A;NM_183395.2:c.2156+13G>A 491238205 199633057 chr1_245655537 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588921A>C;NG_007509.2:g.14447A>C;NM_001079821.2:c.2156+20A>C;NM_001127461.2:c.2156+20A>C;NM_001127462.2:c.2156+20A>C;NM_001243133.1:c.2150+20A>C;NM_004895.4:c.2156+20A>C;NM_183395.2:c.2156+20A>C 491238206 200790821 chr1_245655544 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588942C>T;NG_007509.2:g.14468C>T;NM_001079821.2:c.2156+41C>T;NM_001127461.2:c.2156+41C>T;NM_001127462.2:c.2156+41C>T;NM_001243133.1:c.2150+41C>T;NM_004895.4:c.2156+41C>T;NM_183395.2:c.2156+41C>T 491238207 202051724 chr1_245655565 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247588949T>C;NG_007509.2:g.14475T>C;NM_001079821.2:c.2156+48T>C;NM_001127461.2:c.2156+48T>C;NM_001127462.2:c.2156+48T>C;NM_001243133.1:c.2150+48T>C;NM_004895.4:c.2156+48T>C;NM_183395.2:c.2156+48T>C 491238208 199517932 chr1_245655572 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 YUSUKE 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 4924447 3738447 IMS-JST084195 1.37e-01 2002.07.24 2003.10.10 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 23206996 3738447 afd4319997 1.37e-01 2004.08.20 2004.09.13 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 66648657 3738447 HumanHap300v1.1_rs3738447 1.37e-01 2006.11.09 2006.11.09 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 67298122 3738447 HumanHap550v1.1_rs3738447 1.37e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 67702680 3738447 HumanHap650Yv1.0_rs3738447 1.37e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 68800566 3738447 PGP04319997 1.37e-01 2007.01.30 2008.03.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 70776751 3738447 HumanHap550v3.0__rs3738447 1.37e-01 2007.04.20 2008.03.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 71352848 3738447 HumanHap650Yv3.0_rs3738447 1.37e-01 2007.04.23 2007.04.23 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 75518642 3738447 ILMN_Human_1M_rs3738447 1.37e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 76741732 3738447 AFFY_6_1M_SNP_A-8603308 1.37e-01 2007.08.30 2007.08.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 79163654 3738447 HumanHap300v2.0_rs3738447 1.37e-01 2007.11.18 2007.11.18 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 81005876 3738447 Cor18507_SNV_20070510.chr1_243915001 1.37e-01 2007.11.27 2007.11.27 2002.08.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 84161523 3738447 KHS648029 1.37e-01 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 88051238 3738447 JWB-0217785 1.37e-01 2008.02.27 2008.02.27 2002.08.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 102842948 3738447 BGI_rs3738447 1.37e-01 2008.06.04 2009.06.17 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 112114389 3738447 NA19240_2008_12_16_266114_chr1_245655583 1.37e-01 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 119287729 3738447 NA18507_000265589_NCBI36.1_chr1_245655583 1.37e-01 2009.01.22 2009.01.22 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 122201689 3738447 HumanCNV370v1_C_rs3738447 1.37e-01 2009.04.15 2009.04.15 2002.08.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 138194243 3738447 ENSSNP7169124 1.37e-01 2009.05.17 2009.05.17 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 154263891 3738447 Human610_Quadv1_B_rs3738447-128_B_F_1501756198 1.37e-01 2009.06.20 2009.06.20 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 156563866 3738447 GMI_SNP_36784091 1.37e-01 2009.06.25 2009.06.25 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 159440737 3738447 Human660W-Quad_v1_A_rs3738447-128_B_F_1501756198 1.37e-01 2009.07.07 2009.07.07 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 160633488 3738447 HumanOmni1-Quad_v1-0_B_rs3738447-128_B_F_1501756198 1.37e-01 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 165636094 3738447 NA19240_36_chr1_245655583 1.37e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 171615794 3738447 HumanCNV370-Quadv3_C_rs3738447-128_B_F_1501756198 1.37e-01 2009.10.01 2009.10.04 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 173616335 3738447 Human1M-Duov3_B_rs3738447-128_B_F_1501756198 1.37e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 199903816 3738447 BUSHMAN-chr1-245655582 1.37e-01 2010.03.07 2010.03.07 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 205393654 3738447 BCM_CMT_1011-175929 1.37e-01 2010.03.15 2010.03.15 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 219005632 3738447 pilot_1_YRI_815315_chr1_245655583 1.37e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 230995442 3738447 pilot_1_CEU_600071_chr1_245655583 1.37e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 238590423 3738447 pilot_1_CHB+JPT_475500_chr1_245655583 1.37e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 253948951 3738447 SNP242650_1_245655583 1.37e-01 2010.08.19 2010.08.19 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 276310505 3738447 GMI_AK_SNP_630672 1.37e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 480806166 3738447 HumanOmni2.5-4v1_B_rs3738447-128_B_F_1765469157 1.37e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 480821857 3738447 HumanOmniExpress-12v1_C_rs3738447-131_B_F_1857469814 1.37e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 481748825 3738447 HumanOmni1-Quad_v1-0_C_rs3738447-131_B_F_1865615302 1.37e-01 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247588960G>A;NG_007509.2:g.14486G>A;NM_001079821.2:c.2156+59G>A;NM_001127461.2:c.2156+59G>A;NM_001127462.2:c.2156+59G>A;NM_001243133.1:c.2150+59G>A;NM_004895.4:c.2156+59G>A;NM_183395.2:c.2156+59G>A 485197874 3738447 HumanOmni2.5-4v1_D_rs3738447-131_B_F_1857469814 1.37e-01 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247589072G>A;NG_007509.2:g.14598G>A;NM_001079821.2:c.2156+171G>A;NM_001127461.2:c.2156+171G>A;NM_001127462.2:c.2156+171G>A;NM_001243133.1:c.2150+171G>A;NM_004895.4:c.2156+171G>A;NM_183395.2:c.2156+171G>A 78666117 55914518 Cor18507_SNV_20070510.chr1_243915113 1.01e-02 2007.10.20 2007.10.20 2007.12.06 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247589072G>A;NG_007509.2:g.14598G>A;NM_001079821.2:c.2156+171G>A;NM_001127461.2:c.2156+171G>A;NM_001127462.2:c.2156+171G>A;NM_001243133.1:c.2150+171G>A;NM_004895.4:c.2156+171G>A;NM_183395.2:c.2156+171G>A 119287730 55914518 NA18507_000265590_NCBI36.1_chr1_245655695 1.01e-02 2009.01.22 2009.01.22 2007.12.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589072G>A;NG_007509.2:g.14598G>A;NM_001079821.2:c.2156+171G>A;NM_001127461.2:c.2156+171G>A;NM_001127462.2:c.2156+171G>A;NM_001243133.1:c.2150+171G>A;NM_004895.4:c.2156+171G>A;NM_183395.2:c.2156+171G>A 219005633 55914518 pilot_1_YRI_815316_chr1_245655695 1.01e-02 2010.04.22 2010.04.22 2007.12.06 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589072G>A;NG_007509.2:g.14598G>A;NM_001079821.2:c.2156+171G>A;NM_001127461.2:c.2156+171G>A;NM_001127462.2:c.2156+171G>A;NM_001243133.1:c.2150+171G>A;NM_004895.4:c.2156+171G>A;NM_183395.2:c.2156+171G>A 480923887 55914518 HumanOmni2.5-4v1_D_kgp15709249-0_T_F_1837574537 1.01e-02 2012.01.31 2012.01.31 2007.12.06 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589072G>A;NG_007509.2:g.14598G>A;NM_001079821.2:c.2156+171G>A;NM_001127461.2:c.2156+171G>A;NM_001127462.2:c.2156+171G>A;NM_001243133.1:c.2150+171G>A;NM_004895.4:c.2156+171G>A;NM_183395.2:c.2156+171G>A 482298379 55914518 HumanOmni2.5-4v1_B_SNP1-245655695-0_T_F_1625804868 1.01e-02 2012.02.01 2012.02.01 2007.12.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589118C>G;NG_007509.2:g.14644C>G;NM_001079821.2:c.2156+217C>G;NM_001127461.2:c.2156+217C>G;NM_001127462.2:c.2156+217C>G;NM_001243133.1:c.2150+217C>G;NM_004895.4:c.2156+217C>G;NM_183395.2:c.2156+217C>G 329363764 140014493 20100804_snps_1007300_chr1_247589118 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 114548 NC_000001.10:g.247589121A>G;NG_007509.2:g.14647A>G;NM_001079821.2:c.2156+220A>G;NM_001127461.2:c.2156+220A>G;NM_001127462.2:c.2156+220A>G;NM_001243133.1:c.2150+220A>G;NM_004895.4:c.2156+220A>G;NM_183395.2:c.2156+220A>G 276310506 201713140 GMI_AK_SNP_630673 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247589130G>T;NG_007509.2:g.14656G>T;NM_001079821.2:c.2156+229G>T;NM_001127461.2:c.2156+229G>T;NM_001127462.2:c.2156+229G>T;NM_001243133.1:c.2150+229G>T;NM_004895.4:c.2156+229G>T;NM_183395.2:c.2156+229G>T 329363765 145464838 20100804_snps_1007301_chr1_247589130 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247589141T>C;NG_007509.2:g.14667T>C;NM_001079821.2:c.2156+240T>C;NM_001127461.2:c.2156+240T>C;NM_001127462.2:c.2156+240T>C;NM_001243133.1:c.2150+240T>C;NM_004895.4:c.2156+240T>C;NM_183395.2:c.2156+240T>C 329363766 151055510 20100804_snps_1007302_chr1_247589141 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247589230A>G;NG_007509.2:g.14756A>G;NM_001079821.2:c.2156+329A>G;NM_001127461.2:c.2156+329A>G;NM_001127462.2:c.2156+329A>G;NM_001243133.1:c.2150+329A>G;NM_004895.4:c.2156+329A>G;NM_183395.2:c.2156+329A>G 454808120 189276096 20101123_snps_975350_chr1_247589230 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247589339G>A;NG_007509.2:g.14865G>A;NM_001079821.2:c.2156+438G>A;NM_001127461.2:c.2156+438G>A;NM_001127462.2:c.2156+438G>A;NM_001243133.1:c.2150+438G>A;NM_004895.4:c.2156+438G>A;NM_183395.2:c.2156+438G>A 219005634 116821966 pilot_1_YRI_815317_chr1_245655962 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247589382A>G;NG_007509.2:g.14908A>G;NM_001079821.2:c.2156+481A>G;NM_001127461.2:c.2156+481A>G;NM_001127462.2:c.2156+481A>G;NM_001243133.1:c.2150+481A>G;NM_004895.4:c.2156+481A>G;NM_183395.2:c.2156+481A>G 238590424 116857742 pilot_1_CHB+JPT_475501_chr1_245656005 2.43e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247589409A>C;NG_007509.2:g.14935A>C;NM_001079821.2:c.2156+508A>C;NM_001127461.2:c.2156+508A>C;NM_001127462.2:c.2156+508A>C;NM_001243133.1:c.2150+508A>C;NM_004895.4:c.2156+508A>C;NM_183395.2:c.2156+508A>C 454808121 193235741 20101123_snps_975351_chr1_247589409 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 9878483 6426247 chr1.NT_004536.14_1588983 1.24e-02 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 11406305 6426247 chr1.NT_004536.14_1588983 1.24e-02 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 15386747 6426247 NT_004836.15_12252795 1.24e-02 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 16457643 6426247 CSHL-HuAA-200402.chr1.NT_004836.15_12252795 1.24e-02 2004.02.17 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 19870975 6426247 CSHL-HuFF-200402.chr1.NT_004836.15_12252795 1.24e-02 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 20567290 6426247 WGSA-200403-chr1.chr1.NT_004836.15_12252795 1.24e-02 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 24278330 6426247 afd3991307 1.24e-02 2004.08.21 2004.09.13 2003.07.11 2012.11.28 137 ABI 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 44111961 6426247 hCV29190933 1.24e-02 2005.07.18 2006.11.03 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 77814736 6426247 Cor12156_SNV_20070510.chr1_243915472 1.24e-02 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 81023803 6426247 Cor18507_SNV_20070510.chr1_243915472 1.24e-02 2007.11.27 2007.11.27 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 84393993 6426247 Cor18555_SNV_20070510.chr1_243915472 1.24e-02 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 86184001 6426247 Cor18517_SNV_20070510.chr1_243915472 1.24e-02 2007.12.11 2007.12.11 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 88051240 6426247 JWB-0217786 1.24e-02 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 98020136 6426247 1103675395120 1.24e-02 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 106647971 6426247 BGI_rs6426247 1.24e-02 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 109136477 6426247 CEU.trio.12.15.2008_293420_chr1_245656054 1.24e-02 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 112114399 6426247 NA19240_2008_12_16_266115_chr1_245656054 1.24e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 119287732 6426247 NA18507_000265591_NCBI36.1_chr1_245656054 1.24e-02 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 138194244 6426247 ENSSNP6448108 1.24e-02 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 138997941 6426247 ENSSNP197677 1.24e-02 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 156563871 6426247 GMI_SNP_100917637 1.24e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 165636104 6426247 NA19240_36_chr1_245656054 1.24e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 165961896 6426247 NA07022_36_chr1_245656054 1.24e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 167597154 6426247 NA20431_36_chr1_245656054 1.24e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 199903818 6426247 BUSHMAN-chr1-245656053 1.24e-02 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 205046879 6426247 BCM_CMT_1011-4272 1.24e-02 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 219005635 6426247 pilot_1_YRI_815318_chr1_245656054 1.24e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 230995443 6426247 pilot_1_CEU_600072_chr1_245656054 1.24e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 238590425 6426247 pilot_1_CHB+JPT_475502_chr1_245656054 1.24e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 253948954 6426247 SNP242651_1_245656054 1.24e-02 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 276310507 6426247 GMI_AK_SNP_630674 1.24e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247589431A>G;NG_007509.2:g.14957A>G;NM_001079821.2:c.2156+530A>G;NM_001127461.2:c.2156+530A>G;NM_001127462.2:c.2156+530A>G;NM_001243133.1:c.2150+530A>G;NM_004895.4:c.2156+530A>G;NM_183395.2:c.2156+530A>G 290789434 6426247 SNP_295792_chr1_245656054 1.24e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589494delG;NG_007509.2:g.15020delG;NM_001079821.2:c.2156+593delG;NM_001127461.2:c.2156+593delG;NM_001127462.2:c.2156+593delG;NM_001243133.1:c.2150+593delG;NM_004895.4:c.2156+593delG;NM_183395.2:c.2156+593delG 499190826 201382048 20110316_indels_chr1_247589493_247589493 6.18e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 ABI 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 41282996 34953882 hCV26646015 3.15e-01 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 95261585 34953882 1104685304927 3.15e-01 2008.03.21 2008.12.02 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 98584927 34953882 1103675395116 3.15e-01 2008.04.01 2008.04.01 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 100126876 34953882 INDEL_GP36_2008a_2567480_0 3.15e-01 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 100126879 34953882 INDEL_GP36_2008a_2567480_1 3.15e-01 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 100126881 34953882 INDEL_GP36_2008a_2567480_2 3.15e-01 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 102245726 34953882 INDEL_GP36_2008a_1587880_0 3.15e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 BL 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 255981160 34953882 SNP15679_1_245656118 3.15e-01 2010.08.20 2010.08.20 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 287692039 34953882 GMI_NA10851_INDEL_24667 3.15e-01 2010.12.18 2010.12.20 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 288119529 34953882 GMI_AK_INDEL_90630 3.15e-01 2010.12.21 2011.12.23 2006.03.14 2012.11.28 137 PJP 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 294636723 34953882 DIP_74427_chr1_245656119 3.15e-01 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 326158597 34953882 JPTCHB_chr1_245656118_indel 3.15e-01 2011.03.11 2011.04.02 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 326164537 34953882 CEU_chr1_245656118_indel 3.15e-01 2011.03.11 2011.04.01 2006.03.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589496A>G;NG_007509.2:g.15022A>G;NM_001079821.2:c.2156+595A>G;NM_001127461.2:c.2156+595A>G;NM_001127462.2:c.2156+595A>G;NM_001243133.1:c.2150+595A>G;NM_004895.4:c.2156+595A>G;NM_183395.2:c.2156+595A>G 479918626 199593196 HumanOmni2.5-4v1_D_kgp12070084-0_T_F_1817355317 2012.01.31 2012.01.31 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589496A>G;NG_007509.2:g.15022A>G;NM_001079821.2:c.2156+595A>G;NM_001127461.2:c.2156+595A>G;NM_001127462.2:c.2156+595A>G;NM_001243133.1:c.2150+595A>G;NM_004895.4:c.2156+595A>G;NM_183395.2:c.2156+595A>G 482298382 199593196 HumanOmni2.5-4v1_B_SNP1-245656119-0_T_F_1617478091 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589496delA;NG_007509.2:g.15022delA;NM_001079821.2:c.2156+595delA;NM_001127461.2:c.2156+595delA;NM_001127462.2:c.2156+595delA;NM_001243133.1:c.2150+595delA;NM_004895.4:c.2156+595delA;NM_183395.2:c.2156+595delA 499190830 34953882 20110316_indels_chr1_247589495_247589495 3.15e-01 2012.03.19 2012.03.19 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589531A>G;NG_007509.2:g.15057A>G;NM_001079821.2:c.2156+630A>G;NM_001127461.2:c.2156+630A>G;NM_001127462.2:c.2156+630A>G;NM_001243133.1:c.2150+630A>G;NM_004895.4:c.2156+630A>G;NM_183395.2:c.2156+630A>G 454808122 185703867 20101123_snps_975352_chr1_247589531 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247589571C>T;NG_007509.2:g.15097C>T;NM_001079821.2:c.2156+670C>T;NM_001127461.2:c.2156+670C>T;NM_001127462.2:c.2156+670C>T;NM_001243133.1:c.2150+670C>T;NM_004895.4:c.2156+670C>T;NM_183395.2:c.2156+670C>T 109136481 72771993 CEU.trio.12.15.2008_293421_chr1_245656194 2.52e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247589571C>T;NG_007509.2:g.15097C>T;NM_001079821.2:c.2156+670C>T;NM_001127461.2:c.2156+670C>T;NM_001127462.2:c.2156+670C>T;NM_001243133.1:c.2150+670C>T;NM_004895.4:c.2156+670C>T;NM_183395.2:c.2156+670C>T 199903823 72771993 BUSHMAN-chr1-245656193 2.52e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589571C>T;NG_007509.2:g.15097C>T;NM_001079821.2:c.2156+670C>T;NM_001127461.2:c.2156+670C>T;NM_001127462.2:c.2156+670C>T;NM_001243133.1:c.2150+670C>T;NM_004895.4:c.2156+670C>T;NM_183395.2:c.2156+670C>T 230995444 72771993 pilot_1_CEU_600073_chr1_245656194 2.52e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589676C>T;NG_007509.2:g.15202C>T;NM_001079821.2:c.2156+775C>T;NM_001127461.2:c.2156+775C>T;NM_001127462.2:c.2156+775C>T;NM_001243133.1:c.2150+775C>T;NM_004895.4:c.2156+775C>T;NM_183395.2:c.2156+775C>T 454808123 189059581 20101123_snps_975353_chr1_247589676 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589676C>T;NG_007509.2:g.15202C>T;NM_001079821.2:c.2156+775C>T;NM_001127461.2:c.2156+775C>T;NM_001127462.2:c.2156+775C>T;NM_001243133.1:c.2150+775C>T;NM_004895.4:c.2156+775C>T;NM_183395.2:c.2156+775C>T 482298385 189059581 HumanOmni2.5-4v1_B_SNP1-245656299-0_T_R_1630939155 1.80e-03 2012.02.01 2012.02.01 2011.09.17 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247589676C>T;NG_007509.2:g.15202C>T;NM_001079821.2:c.2156+775C>T;NM_001127461.2:c.2156+775C>T;NM_001127462.2:c.2156+775C>T;NM_001243133.1:c.2150+775C>T;NM_004895.4:c.2156+775C>T;NM_183395.2:c.2156+775C>T 482771796 189059581 HumanOmni2.5-4v1_D_kgp22789890-0_T_R_1860330920 1.80e-03 2012.02.01 2012.02.01 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247589795T>C;NG_007509.2:g.15321T>C;NM_001079821.2:c.2156+894T>C;NM_001127461.2:c.2156+894T>C;NM_001127462.2:c.2156+894T>C;NM_001243133.1:c.2150+894T>C;NM_004895.4:c.2156+894T>C;NM_183395.2:c.2156+894T>C 230995445 79086538 pilot_1_CEU_600074_chr1_245656418 1.74e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 114548 NC_000001.10:g.247589795T>C;NG_007509.2:g.15321T>C;NM_001079821.2:c.2156+894T>C;NM_001127461.2:c.2156+894T>C;NM_001127462.2:c.2156+894T>C;NM_001243133.1:c.2150+894T>C;NM_004895.4:c.2156+894T>C;NM_183395.2:c.2156+894T>C 253948957 79086538 SNP242652_1_245656418 1.74e-02 2010.08.19 2010.08.19 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247589819A>G;NG_007509.2:g.15345A>G;NM_001079821.2:c.2156+918A>G;NM_001127461.2:c.2156+918A>G;NM_001127462.2:c.2156+918A>G;NM_001243133.1:c.2150+918A>G;NM_004895.4:c.2156+918A>G;NM_183395.2:c.2156+918A>G 454808124 181444689 20101123_snps_975354_chr1_247589819 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247589904T>C;NG_007509.2:g.15430T>C;NM_001079821.2:c.2156+1003T>C;NM_001127461.2:c.2156+1003T>C;NM_001127462.2:c.2156+1003T>C;NM_001243133.1:c.2150+1003T>C;NM_004895.4:c.2156+1003T>C;NM_183395.2:c.2156+1003T>C 329363767 140940793 20100804_snps_1007303_chr1_247589904 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247589962C>A;NG_007509.2:g.15488C>A;NM_001079821.2:c.2156+1061C>A;NM_001127461.2:c.2156+1061C>A;NM_001127462.2:c.2156+1061C>A;NM_001243133.1:c.2150+1061C>A;NM_004895.4:c.2156+1061C>A;NM_183395.2:c.2156+1061C>A 454808125 186126389 20101123_snps_975355_chr1_247589962 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 114548 NC_000001.10:g.247590027C>T;NG_007509.2:g.15553C>T;NM_001079821.2:c.2156+1126C>T;NM_001127461.2:c.2156+1126C>T;NM_001127462.2:c.2156+1126C>T;NM_001243133.1:c.2150+1126C>T;NM_004895.4:c.2156+1126C>T;NM_183395.2:c.2156+1126C>T 276310508 201680035 GMI_AK_SNP_630675 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247590051C>T;NG_007509.2:g.15577C>T;NM_001079821.2:c.2156+1150C>T;NM_001127461.2:c.2156+1150C>T;NM_001127462.2:c.2156+1150C>T;NM_001243133.1:c.2150+1150C>T;NM_004895.4:c.2156+1150C>T;NM_183395.2:c.2156+1150C>T 454808126 188537589 20101123_snps_975356_chr1_247590051 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247590087C>T;NG_007509.2:g.15613C>T;NM_001079821.2:c.2156+1186C>T;NM_001127461.2:c.2156+1186C>T;NM_001127462.2:c.2156+1186C>T;NM_001243133.1:c.2150+1186C>T;NM_004895.4:c.2156+1186C>T;NM_183395.2:c.2156+1186C>T 454808127 181369593 20101123_snps_975357_chr1_247590087 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247590100C>T;NG_007509.2:g.15626C>T;NM_001079821.2:c.2156+1199C>T;NM_001127461.2:c.2156+1199C>T;NM_001127462.2:c.2156+1199C>T;NM_001243133.1:c.2150+1199C>T;NM_004895.4:c.2156+1199C>T;NM_183395.2:c.2156+1199C>T 454808128 186027100 20101123_snps_975358_chr1_247590100 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 43863946 35433972 hCV26646017 2.98e-02 2005.07.18 2005.07.18 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 99306020 35433972 1103675395121 2.98e-02 2008.04.03 2008.04.03 2006.03.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 131774257 35433972 ENSSNP197678 2.98e-02 2009.05.11 2009.10.14 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 230995446 35433972 pilot_1_CEU_600075_chr1_245656726 2.98e-02 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 482298388 35433972 HumanOmni2.5-4v1_B_SNP1-245656726-0_B_F_1642760152 2.98e-02 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247590103C>T;NG_007509.2:g.15629C>T;NM_001079821.2:c.2156+1202C>T;NM_001127461.2:c.2156+1202C>T;NM_001127462.2:c.2156+1202C>T;NM_001243133.1:c.2150+1202C>T;NM_004895.4:c.2156+1202C>T;NM_183395.2:c.2156+1202C>T 483249874 35433972 HumanOmni2.5-4v1_D_kgp3864545-0_B_F_1821218219 2.98e-02 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590113G>C;NG_007509.2:g.15639G>C;NM_001079821.2:c.2156+1212G>C;NM_001127461.2:c.2156+1212G>C;NM_001127462.2:c.2156+1212G>C;NM_001243133.1:c.2150+1212G>C;NM_004895.4:c.2156+1212G>C;NM_183395.2:c.2156+1212G>C 329363768 149769444 20100804_snps_1007304_chr1_247590113 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247590190G>A;NG_007509.2:g.15716G>A;NM_001079821.2:c.2156+1289G>A;NM_001127461.2:c.2156+1289G>A;NM_001127462.2:c.2156+1289G>A;NM_001243133.1:c.2150+1289G>A;NM_004895.4:c.2156+1289G>A;NM_183395.2:c.2156+1289G>A 329363769 145890987 20100804_snps_1007305_chr1_247590190 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247590198G>A;NG_007509.2:g.15724G>A;NM_001079821.2:c.2156+1297G>A;NM_001127461.2:c.2156+1297G>A;NM_001127462.2:c.2156+1297G>A;NM_001243133.1:c.2150+1297G>A;NM_004895.4:c.2156+1297G>A;NM_183395.2:c.2156+1297G>A 329363770 140705661 20100804_snps_1007306_chr1_247590198 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247590199G>A;NG_007509.2:g.15725G>A;NM_001079821.2:c.2156+1298G>A;NM_001127461.2:c.2156+1298G>A;NM_001127462.2:c.2156+1298G>A;NM_001243133.1:c.2150+1298G>A;NM_004895.4:c.2156+1298G>A;NM_183395.2:c.2156+1298G>A 454808129 190943690 20101123_snps_975359_chr1_247590199 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247590245C>T;NG_007509.2:g.15771C>T;NM_001079821.2:c.2156+1344C>T;NM_001127461.2:c.2156+1344C>T;NM_001127462.2:c.2156+1344C>T;NM_001243133.1:c.2150+1344C>T;NM_004895.4:c.2156+1344C>T;NM_183395.2:c.2156+1344C>T 329363771 145834394 20100804_snps_1007307_chr1_247590245 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247590272delA;NG_007509.2:g.15798delA;NM_001079821.2:c.2156+1371delA;NM_001127461.2:c.2156+1371delA;NM_001127462.2:c.2156+1371delA;NM_001243133.1:c.2150+1371delA;NM_004895.4:c.2156+1371delA;NM_183395.2:c.2156+1371delA 326215326 146617854 YRI_chr1_245656894_indel 2.34e-02 2011.03.11 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590272delA;NG_007509.2:g.15798delA;NM_001079821.2:c.2156+1371delA;NM_001127461.2:c.2156+1371delA;NM_001127462.2:c.2156+1371delA;NM_001243133.1:c.2150+1371delA;NM_004895.4:c.2156+1371delA;NM_183395.2:c.2156+1371delA 499190834 146617854 20110316_indels_chr1_247590271_247590271 2.34e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590310C>T;NG_007509.2:g.15836C>T;NM_001079821.2:c.2156+1409C>T;NM_001127461.2:c.2156+1409C>T;NM_001127462.2:c.2156+1409C>T;NM_001243133.1:c.2150+1409C>T;NM_004895.4:c.2156+1409C>T;NM_183395.2:c.2156+1409C>T 219005638 78006664 pilot_1_YRI_815321_chr1_245656933 2.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247590327G>A;NG_007509.2:g.15853G>A;NM_001079821.2:c.2156+1426G>A;NM_001127461.2:c.2156+1426G>A;NM_001127462.2:c.2156+1426G>A;NM_001243133.1:c.2150+1426G>A;NM_004895.4:c.2156+1426G>A;NM_183395.2:c.2156+1426G>A 109136485 72771994 CEU.trio.12.15.2008_293422_chr1_245656950 2.52e-02 2008.12.16 2008.12.16 2009.02.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247590327G>A;NG_007509.2:g.15853G>A;NM_001079821.2:c.2156+1426G>A;NM_001127461.2:c.2156+1426G>A;NM_001127462.2:c.2156+1426G>A;NM_001243133.1:c.2150+1426G>A;NM_004895.4:c.2156+1426G>A;NM_183395.2:c.2156+1426G>A 230995447 72771994 pilot_1_CEU_600076_chr1_245656950 2.52e-02 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247590353C>T;NG_007509.2:g.15879C>T;NM_001079821.2:c.2156+1452C>T;NM_001127461.2:c.2156+1452C>T;NM_001127462.2:c.2156+1452C>T;NM_001243133.1:c.2150+1452C>T;NM_004895.4:c.2156+1452C>T;NM_183395.2:c.2156+1452C>T 199903828 77363446 BUSHMAN-chr1-245656975 1.65e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590353C>T;NG_007509.2:g.15879C>T;NM_001079821.2:c.2156+1452C>T;NM_001127461.2:c.2156+1452C>T;NM_001127462.2:c.2156+1452C>T;NM_001243133.1:c.2150+1452C>T;NM_004895.4:c.2156+1452C>T;NM_183395.2:c.2156+1452C>T 210793788 77363446 YRI.trio.3.2010_117436_chr1_245656976 1.65e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590353C>T;NG_007509.2:g.15879C>T;NM_001079821.2:c.2156+1452C>T;NM_001127461.2:c.2156+1452C>T;NM_001127462.2:c.2156+1452C>T;NM_001243133.1:c.2150+1452C>T;NM_004895.4:c.2156+1452C>T;NM_183395.2:c.2156+1452C>T 219005639 77363446 pilot_1_YRI_815322_chr1_245656976 1.65e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590442C>G;NG_007509.2:g.15968C>G;NM_001079821.2:c.2156+1541C>G;NM_001127461.2:c.2156+1541C>G;NM_001127462.2:c.2156+1541C>G;NM_001243133.1:c.2150+1541C>G;NM_004895.4:c.2156+1541C>G;NM_183395.2:c.2156+1541C>G 329363772 138429272 20100804_snps_1007308_chr1_247590442 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 119287734 74154638 NA18507_000265592_NCBI36.1_chr1_245657116 1.71e-01 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 165961898 74154638 NA07022_36_chr1_245657116 1.71e-01 2009.09.30 2009.09.30 2009.02.15 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 205452298 74154638 BCM_CMT_1011-205191 1.71e-01 2010.03.16 2010.03.16 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 219005640 74154638 pilot_1_YRI_815323_chr1_245657116 1.71e-01 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 230995448 74154638 pilot_1_CEU_600077_chr1_245657116 1.71e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 238590426 74154638 pilot_1_CHB+JPT_475503_chr1_245657116 1.71e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247590493C>G;NG_007509.2:g.16019C>G;NM_001079821.2:c.2156+1592C>G;NM_001127461.2:c.2156+1592C>G;NM_001127462.2:c.2156+1592C>G;NM_001243133.1:c.2150+1592C>G;NM_004895.4:c.2156+1592C>G;NM_183395.2:c.2156+1592C>G 276310509 74154638 GMI_AK_SNP_630676 1.71e-01 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590531C>T;NG_007509.2:g.16057C>T;NM_001079821.2:c.2156+1630C>T;NM_001127461.2:c.2156+1630C>T;NM_001127462.2:c.2156+1630C>T;NM_001243133.1:c.2150+1630C>T;NM_004895.4:c.2156+1630C>T;NM_183395.2:c.2156+1630C>T 454808130 184049755 20101123_snps_975360_chr1_247590531 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247590560G>T;NG_007509.2:g.16086G>T;NM_001079821.2:c.2156+1659G>T;NM_001127461.2:c.2156+1659G>T;NM_001127462.2:c.2156+1659G>T;NM_001243133.1:c.2150+1659G>T;NM_004895.4:c.2156+1659G>T;NM_183395.2:c.2156+1659G>T 329363773 141336639 20100804_snps_1007309_chr1_247590560 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247590616G>T;NG_007509.2:g.16142G>T;NM_001079821.2:c.2156+1715G>T;NM_001127461.2:c.2156+1715G>T;NM_001127462.2:c.2156+1715G>T;NM_001243133.1:c.2150+1715G>T;NM_004895.4:c.2156+1715G>T;NM_183395.2:c.2156+1715G>T 329363774 144679756 20100804_snps_1007310_chr1_247590616 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247590688C>T;NG_007509.2:g.16214C>T;NM_001079821.2:c.2156+1787C>T;NM_001127461.2:c.2156+1787C>T;NM_001127462.2:c.2156+1787C>T;NM_001243133.1:c.2150+1787C>T;NM_004895.4:c.2156+1787C>T;NM_183395.2:c.2156+1787C>T 199903830 76025429 BUSHMAN-chr1-245657310 4.62e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590688C>T;NG_007509.2:g.16214C>T;NM_001079821.2:c.2156+1787C>T;NM_001127461.2:c.2156+1787C>T;NM_001127462.2:c.2156+1787C>T;NM_001243133.1:c.2150+1787C>T;NM_004895.4:c.2156+1787C>T;NM_183395.2:c.2156+1787C>T 210793791 76025429 YRI.trio.3.2010_117437_chr1_245657311 4.62e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590688C>T;NG_007509.2:g.16214C>T;NM_001079821.2:c.2156+1787C>T;NM_001127461.2:c.2156+1787C>T;NM_001127462.2:c.2156+1787C>T;NM_001243133.1:c.2150+1787C>T;NM_004895.4:c.2156+1787C>T;NM_183395.2:c.2156+1787C>T 219005641 76025429 pilot_1_YRI_815324_chr1_245657311 4.62e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247590717G>A;NG_007509.2:g.16243G>A;NM_001079821.2:c.2156+1816G>A;NM_001127461.2:c.2156+1816G>A;NM_001127462.2:c.2156+1816G>A;NM_001243133.1:c.2150+1816G>A;NM_004895.4:c.2156+1816G>A;NM_183395.2:c.2156+1816G>A 199903836 74425704 BUSHMAN-chr1-245657339 4.60e-03 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590717G>A;NG_007509.2:g.16243G>A;NM_001079821.2:c.2156+1816G>A;NM_001127461.2:c.2156+1816G>A;NM_001127462.2:c.2156+1816G>A;NM_001243133.1:c.2150+1816G>A;NM_004895.4:c.2156+1816G>A;NM_183395.2:c.2156+1816G>A 219005642 74425704 pilot_1_YRI_815325_chr1_245657340 4.60e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247590717G>A;NG_007509.2:g.16243G>A;NM_001079821.2:c.2156+1816G>A;NM_001127461.2:c.2156+1816G>A;NM_001127462.2:c.2156+1816G>A;NM_001243133.1:c.2150+1816G>A;NM_004895.4:c.2156+1816G>A;NM_183395.2:c.2156+1816G>A 480872192 74425704 HumanOmni2.5-4v1_D_kgp15517856-0_B_R_1836679563 4.60e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247590717G>A;NG_007509.2:g.16243G>A;NM_001079821.2:c.2156+1816G>A;NM_001127461.2:c.2156+1816G>A;NM_001127462.2:c.2156+1816G>A;NM_001243133.1:c.2150+1816G>A;NM_004895.4:c.2156+1816G>A;NM_183395.2:c.2156+1816G>A 482298391 74425704 HumanOmni2.5-4v1_B_SNP1-245657340-0_B_R_1631112817 4.60e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590780C>T;NG_007509.2:g.16306C>T;NM_001079821.2:c.2156+1879C>T;NM_001127461.2:c.2156+1879C>T;NM_001127462.2:c.2156+1879C>T;NM_001243133.1:c.2150+1879C>T;NM_004895.4:c.2156+1879C>T;NM_183395.2:c.2156+1879C>T 329363775 148208817 20100804_snps_1007311_chr1_247590780 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247590801T>C;NG_007509.2:g.16327T>C;NM_001079821.2:c.2156+1900T>C;NM_001127461.2:c.2156+1900T>C;NM_001127462.2:c.2156+1900T>C;NM_001243133.1:c.2150+1900T>C;NM_004895.4:c.2156+1900T>C;NM_183395.2:c.2156+1900T>C 11388866 7535360 chr1.NT_004536.14_1590353 3.80e-02 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247590801T>C;NG_007509.2:g.16327T>C;NM_001079821.2:c.2156+1900T>C;NM_001127461.2:c.2156+1900T>C;NM_001127462.2:c.2156+1900T>C;NM_001243133.1:c.2150+1900T>C;NM_004895.4:c.2156+1900T>C;NM_183395.2:c.2156+1900T>C 329363776 7535360 20100804_snps_1007312_chr1_247590801 3.80e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 6810141 4925652 NT_031730.6_379058 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 17372358 4925652 CSHL-HuCC-200402.chr1.NT_004836.15_12254202 2004.02.19 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 35440183 4925652 TA-079.chr1_243916879 2005.03.11 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 41325391 4925652 hCV27954089 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 88051242 4925652 JWB-0217787 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 142681292 4925652 ENSSNP197679 2009.06.05 2010.03.07 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 156563879 4925652 GMI_SNP_36193191 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 165636113 4925652 NA19240_36_chr1_245657461 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 165961902 4925652 NA07022_36_chr1_245657461 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 167597156 4925652 NA20431_36_chr1_245657461 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 199903839 4925652 BUSHMAN-chr1-245657460 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 253948960 4925652 SNP242653_1_245657461 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247590838T>C;NG_007509.2:g.16364T>C;NM_001079821.2:c.2156+1937T>C;NM_001127461.2:c.2156+1937T>C;NM_001127462.2:c.2156+1937T>C;NM_001243133.1:c.2150+1937T>C;NM_004895.4:c.2156+1937T>C;NM_183395.2:c.2156+1937T>C 276310510 4925652 GMI_AK_SNP_630677 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247590844C>T;NG_007509.2:g.16370C>T;NM_001079821.2:c.2156+1943C>T;NM_001127461.2:c.2156+1943C>T;NM_001127462.2:c.2156+1943C>T;NM_001243133.1:c.2150+1943C>T;NM_004895.4:c.2156+1943C>T;NM_183395.2:c.2156+1943C>T 41272507 34497469 hCV33568128 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 WI_SSAHASNP 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 6810011 4925544 NT_031730.6_379069 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 17365264 4925544 CSHL-HuCC-200402.chr1.NT_004836.15_12254213 2004.02.19 2004.03.04 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 88051244 4925544 JWB-0217788 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 142774921 4925544 ENSSNP197680 2009.06.05 2010.03.07 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 156563887 4925544 GMI_SNP_37091098 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 165636121 4925544 NA19240_36_chr1_245657472 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 165961905 4925544 NA07022_36_chr1_245657472 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 167597158 4925544 NA20431_36_chr1_245657472 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 199903844 4925544 BUSHMAN-chr1-245657471 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 253948963 4925544 SNP242654_1_245657472 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247590849G>A;NG_007509.2:g.16375G>A;NM_001079821.2:c.2156+1948G>A;NM_001127461.2:c.2156+1948G>A;NM_001127462.2:c.2156+1948G>A;NM_001243133.1:c.2150+1948G>A;NM_004895.4:c.2156+1948G>A;NM_183395.2:c.2156+1948G>A 276310511 4925544 GMI_AK_SNP_630678 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247590856T>C;NG_007509.2:g.16382T>C;NM_001079821.2:c.2156+1955T>C;NM_001127461.2:c.2156+1955T>C;NM_001127462.2:c.2156+1955T>C;NM_001243133.1:c.2150+1955T>C;NM_004895.4:c.2156+1955T>C;NM_183395.2:c.2156+1955T>C 75282434 55784567 ILMN_Human_1M_rs4925653 2007.08.29 2007.08.29 2007.12.06 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247590856T>C;NG_007509.2:g.16382T>C;NM_001079821.2:c.2156+1955T>C;NM_001127461.2:c.2156+1955T>C;NM_001127462.2:c.2156+1955T>C;NM_001243133.1:c.2150+1955T>C;NM_004895.4:c.2156+1955T>C;NM_183395.2:c.2156+1955T>C 123117643 55784567 HumanCNV370v1_C_rs4925653 2009.04.15 2009.04.15 2007.12.06 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247590856T>C;NG_007509.2:g.16382T>C;NM_001079821.2:c.2156+1955T>C;NM_001127461.2:c.2156+1955T>C;NM_001127462.2:c.2156+1955T>C;NM_001243133.1:c.2150+1955T>C;NM_004895.4:c.2156+1955T>C;NM_183395.2:c.2156+1955T>C 154329501 55784567 Human610_Quadv1_B_rs4925653-128_B_F_1514257036 2009.06.20 2009.06.20 2007.12.06 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247590856T>C;NG_007509.2:g.16382T>C;NM_001079821.2:c.2156+1955T>C;NM_001127461.2:c.2156+1955T>C;NM_001127462.2:c.2156+1955T>C;NM_001243133.1:c.2150+1955T>C;NM_004895.4:c.2156+1955T>C;NM_183395.2:c.2156+1955T>C 171980205 55784567 HumanCNV370-Quadv3_C_rs4925653-128_B_F_1514257036 2009.10.01 2009.10.04 2007.12.06 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247590856T>C;NG_007509.2:g.16382T>C;NM_001079821.2:c.2156+1955T>C;NM_001127461.2:c.2156+1955T>C;NM_001127462.2:c.2156+1955T>C;NM_001243133.1:c.2150+1955T>C;NM_004895.4:c.2156+1955T>C;NM_183395.2:c.2156+1955T>C 173877312 55784567 Human1M-Duov3_B_rs4925653-128_B_F_1514257036 2009.10.04 2009.10.04 2007.12.06 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 17324366 10925016 CSHL-HuCC-200402.chr1.NT_004836.15_12254247 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 18069870 10925016 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12254247 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 88051245 10925016 JWB-0217789 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 144326422 10925016 ENSSNP197681 2009.06.06 2009.10.16 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 165636130 10925016 NA19240_36_chr1_245657506 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 165961909 10925016 NA07022_36_chr1_245657506 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 167597160 10925016 NA20431_36_chr1_245657506 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247590883A>G;NG_007509.2:g.16409A>G;NM_001079821.2:c.2156+1982A>G;NM_001127461.2:c.2156+1982A>G;NM_001127462.2:c.2156+1982A>G;NM_001243133.1:c.2150+1982A>G;NM_004895.4:c.2156+1982A>G;NM_183395.2:c.2156+1982A>G 276310512 10925016 GMI_AK_SNP_630679 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247590897A>C;NG_007509.2:g.16423A>C;NM_001079821.2:c.2157-1990A>C;NM_001127461.2:c.2157-1990A>C;NM_001127462.2:c.2156+1996A>C;NM_001243133.1:c.2151-1990A>C;NM_004895.4:c.2157-1990A>C;NM_183395.2:c.2156+1996A>C 41353017 36112685 hCV33568129 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 BCMHGSC_JDW 114548 NC_000001.10:g.247590943C>A;NG_007509.2:g.16469C>A;NM_001079821.2:c.2157-1944C>A;NM_001127461.2:c.2157-1944C>A;NM_001127462.2:c.2156+2042C>A;NM_001243133.1:c.2151-1944C>A;NM_004895.4:c.2157-1944C>A;NM_183395.2:c.2156+2042C>A 88051248 61841180 JWB-2759462 2008.02.27 2008.02.27 2008.03.24 2011.07.08 137 CSHL-HAPMAP 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 19147967 12410149 CSHL-HuDD-200402.chr1.NT_004836.15_12254354 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 20530203 12410149 WGSA-200403-chr1.chr1.NT_004836.15_12254354 2004.03.18 2004.03.18 2004.02.28 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 35156605 12410149 TA-079.chr1_243917031 2005.03.11 2004.02.28 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 131774261 12410149 ENSSNP197682 2009.05.11 2010.03.07 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 165636139 12410149 NA19240_36_chr1_245657613 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 165961911 12410149 NA07022_36_chr1_245657613 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590990T>C;NG_007509.2:g.16516T>C;NM_001079821.2:c.2157-1897T>C;NM_001127461.2:c.2157-1897T>C;NM_001127462.2:c.2156+2089T>C;NM_001243133.1:c.2151-1897T>C;NM_004895.4:c.2157-1897T>C;NM_183395.2:c.2156+2089T>C 167597162 12410149 NA20431_36_chr1_245657613 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 6810012 4925545 NT_031730.6_379361 2003.02.14 2003.10.10 2003.02.20 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 16443680 4925545 CSHL-HuAA-200402.chr1.NT_004836.15_12254505 2004.02.17 2004.03.04 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 20433959 4925545 WGSA-200403-chr1.chr1.NT_004836.15_12254359 2004.03.18 2004.03.18 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 20435350 4925545 WGSA-200403-chr1.chr1.NT_004836.15_12254505 2004.03.18 2004.03.18 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 35267945 4925545 TA-079.chr1_243917036 2005.03.11 2003.02.20 2011.09.09 137 ABI 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 41064102 4925545 hCV27872298 2005.07.17 2005.07.17 2003.02.20 2011.09.09 137 HGSV 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 78334337 4925545 Cor12878_SNV_20070510.chr1_243917182 2007.10.18 2007.10.18 2003.02.20 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 131774264 4925545 ENSSNP197683 2009.05.11 2010.03.07 2003.02.20 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 165636149 4925545 NA19240_36_chr1_245657618 2009.09.30 2009.09.30 2003.02.20 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 165961915 4925545 NA07022_36_chr1_245657618 2009.09.30 2009.09.30 2003.02.20 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247590995G>A;NG_007509.2:g.16521G>A;NM_001079821.2:c.2157-1892G>A;NM_001127461.2:c.2157-1892G>A;NM_001127462.2:c.2156+2094G>A;NM_001243133.1:c.2151-1892G>A;NM_004895.4:c.2157-1892G>A;NM_183395.2:c.2156+2094G>A 167597164 4925545 NA20431_36_chr1_245657618 2009.09.30 2009.09.30 2003.02.20 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 6810143 4925653 NT_031730.6_379368 2003.02.14 2003.10.10 2003.02.20 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 16404265 4925653 CSHL-HuAA-200402.chr1.NT_004836.15_12254512 2004.02.17 2004.03.04 2003.02.20 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 17338257 4925653 CSHL-HuCC-200402.chr1.NT_004836.15_12254512 2004.02.19 2004.03.04 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 20432658 4925653 WGSA-200403-chr1.chr1.NT_004836.15_12254366 2004.03.18 2004.03.18 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 20434116 4925653 WGSA-200403-chr1.chr1.NT_004836.15_12254512 2004.03.18 2004.03.18 2003.02.20 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 35330225 4925653 TA-079.chr1_243917043 2005.03.11 2003.02.20 2011.09.09 137 ABI 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 41119016 4925653 hCV31451934 2005.07.17 2005.07.17 2003.02.20 2011.09.09 137 HGSV 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 78739093 4925653 Cor12878_SNV_20070510.chr1_243917189 2007.10.20 2007.10.20 2003.02.20 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 131774267 4925653 ENSSNP197684 2009.05.11 2010.03.07 2003.02.20 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 165961918 4925653 NA07022_36_chr1_245657625 2009.09.30 2009.09.30 2003.02.20 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591002C>T;NG_007509.2:g.16528C>T;NM_001079821.2:c.2157-1885C>T;NM_001127461.2:c.2157-1885C>T;NM_001127462.2:c.2156+2101C>T;NM_001243133.1:c.2151-1885C>T;NM_004895.4:c.2157-1885C>T;NM_183395.2:c.2156+2101C>T 167597166 4925653 NA20431_36_chr1_245657625 2009.09.30 2009.09.30 2003.02.20 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247591009C>T;NG_007509.2:g.16535C>T;NM_001079821.2:c.2157-1878C>T;NM_001127461.2:c.2157-1878C>T;NM_001127462.2:c.2156+2108C>T;NM_001243133.1:c.2151-1878C>T;NM_004895.4:c.2157-1878C>T;NM_183395.2:c.2156+2108C>T 75277691 56351535 ILMN_Human_1M_cnv1049p3 2007.08.29 2007.08.29 2007.12.07 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247591009C>T;NG_007509.2:g.16535C>T;NM_001079821.2:c.2157-1878C>T;NM_001127461.2:c.2157-1878C>T;NM_001127462.2:c.2156+2108C>T;NM_001243133.1:c.2151-1878C>T;NM_004895.4:c.2157-1878C>T;NM_183395.2:c.2156+2108C>T 123100431 56351535 HumanCNV370v1_C_cnv1049p3 2009.04.15 2009.04.15 2007.12.07 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247591009C>T;NG_007509.2:g.16535C>T;NM_001079821.2:c.2157-1878C>T;NM_001127461.2:c.2157-1878C>T;NM_001127462.2:c.2156+2108C>T;NM_001243133.1:c.2151-1878C>T;NM_004895.4:c.2157-1878C>T;NM_183395.2:c.2156+2108C>T 168881078 56351535 HumanCNV370-Quadv3_C_cnvi0000362-126_T_R_1514230551 2009.10.01 2009.10.02 2007.12.07 2011.09.09 137 ILLUMINA 114548 NC_000001.10:g.247591009C>T;NG_007509.2:g.16535C>T;NM_001079821.2:c.2157-1878C>T;NM_001127461.2:c.2157-1878C>T;NM_001127462.2:c.2156+2108C>T;NM_001243133.1:c.2151-1878C>T;NM_004895.4:c.2157-1878C>T;NM_183395.2:c.2156+2108C>T 169141946 56351535 Human1M-Duov3_B_cnvi0000362-126_T_R_1514230551 2009.10.01 2009.10.01 2007.12.07 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591021T>C;NG_007509.2:g.16547T>C;NM_001079821.2:c.2157-1866T>C;NM_001127461.2:c.2157-1866T>C;NM_001127462.2:c.2156+2120T>C;NM_001243133.1:c.2151-1866T>C;NM_004895.4:c.2157-1866T>C;NM_183395.2:c.2156+2120T>C 20530285 12743723 WGSA-200403-chr1.chr1.NT_004836.15_12254385 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591021T>C;NG_007509.2:g.16547T>C;NM_001079821.2:c.2157-1866T>C;NM_001127461.2:c.2157-1866T>C;NM_001127462.2:c.2156+2120T>C;NM_001243133.1:c.2151-1866T>C;NM_004895.4:c.2157-1866T>C;NM_183395.2:c.2156+2120T>C 35194049 12743723 TA-079.chr1_243917062 2005.03.11 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591022T>C;NG_007509.2:g.16548T>C;NM_001079821.2:c.2157-1865T>C;NM_001127461.2:c.2157-1865T>C;NM_001127462.2:c.2156+2121T>C;NM_001243133.1:c.2151-1865T>C;NM_004895.4:c.2157-1865T>C;NM_183395.2:c.2156+2121T>C 20530288 12743725 WGSA-200403-chr1.chr1.NT_004836.15_12254386 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591022T>C;NG_007509.2:g.16548T>C;NM_001079821.2:c.2157-1865T>C;NM_001127461.2:c.2157-1865T>C;NM_001127462.2:c.2156+2121T>C;NM_001243133.1:c.2151-1865T>C;NM_004895.4:c.2157-1865T>C;NM_183395.2:c.2156+2121T>C 35407903 12743725 TA-079.chr1_243917063 2005.03.11 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591029A>G;NG_007509.2:g.16555A>G;NM_001079821.2:c.2157-1858A>G;NM_001127461.2:c.2157-1858A>G;NM_001127462.2:c.2156+2128A>G;NM_001243133.1:c.2151-1858A>G;NM_004895.4:c.2157-1858A>G;NM_183395.2:c.2156+2128A>G 20432036 12723281 WGSA-200403-chr1.chr1.NT_004836.15_12254393 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591029A>G;NG_007509.2:g.16555A>G;NM_001079821.2:c.2157-1858A>G;NM_001127461.2:c.2157-1858A>G;NM_001127462.2:c.2156+2128A>G;NM_001243133.1:c.2151-1858A>G;NM_004895.4:c.2157-1858A>G;NM_183395.2:c.2156+2128A>G 35424610 12723281 TA-079.chr1_243917070 2005.03.11 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591031A>G;NG_007509.2:g.16557A>G;NM_001079821.2:c.2157-1856A>G;NM_001127461.2:c.2157-1856A>G;NM_001127462.2:c.2156+2130A>G;NM_001243133.1:c.2151-1856A>G;NM_004895.4:c.2157-1856A>G;NM_183395.2:c.2156+2130A>G 20432040 12723282 WGSA-200403-chr1.chr1.NT_004836.15_12254395 2004.03.18 2004.03.18 2004.04.05 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591031A>G;NG_007509.2:g.16557A>G;NM_001079821.2:c.2157-1856A>G;NM_001127461.2:c.2157-1856A>G;NM_001127462.2:c.2156+2130A>G;NM_001243133.1:c.2151-1856A>G;NM_004895.4:c.2157-1856A>G;NM_183395.2:c.2156+2130A>G 35180196 12723282 TA-079.chr1_243917072 2005.03.11 2004.04.05 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591031A>G;NG_007509.2:g.16557A>G;NM_001079821.2:c.2157-1856A>G;NM_001127461.2:c.2157-1856A>G;NM_001127462.2:c.2156+2130A>G;NM_001243133.1:c.2151-1856A>G;NM_004895.4:c.2157-1856A>G;NM_183395.2:c.2156+2130A>G 131774270 12723282 ENSSNP197685 2009.05.11 2010.03.07 2004.04.05 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591038T>G;NG_007509.2:g.16564T>G;NM_001079821.2:c.2157-1849T>G;NM_001127461.2:c.2157-1849T>G;NM_001127462.2:c.2156+2137T>G;NM_001243133.1:c.2151-1849T>G;NM_004895.4:c.2157-1849T>G;NM_183395.2:c.2156+2137T>G 20530895 12743847 WGSA-200403-chr1.chr1.NT_004836.15_12254402 2004.03.18 2004.03.18 2004.04.05 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591038T>G;NG_007509.2:g.16564T>G;NM_001079821.2:c.2157-1849T>G;NM_001127461.2:c.2157-1849T>G;NM_001127462.2:c.2156+2137T>G;NM_001243133.1:c.2151-1849T>G;NM_004895.4:c.2157-1849T>G;NM_183395.2:c.2156+2137T>G 131774273 12743847 ENSSNP197686 2009.05.11 2010.03.07 2004.04.05 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591043C>A;NG_007509.2:g.16569C>A;NM_001079821.2:c.2157-1844C>A;NM_001127461.2:c.2157-1844C>A;NM_001127462.2:c.2156+2142C>A;NM_001243133.1:c.2151-1844C>A;NM_004895.4:c.2157-1844C>A;NM_183395.2:c.2156+2142C>A 20433343 12723562 WGSA-200403-chr1.chr1.NT_004836.15_12254407 2004.03.18 2004.03.18 2004.04.05 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247591043C>A;NG_007509.2:g.16569C>A;NM_001079821.2:c.2157-1844C>A;NM_001127461.2:c.2157-1844C>A;NM_001127462.2:c.2156+2142C>A;NM_001243133.1:c.2151-1844C>A;NM_004895.4:c.2157-1844C>A;NM_183395.2:c.2156+2142C>A 35279093 12723562 TA-079.chr1_243917084 2005.03.11 2004.04.05 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247591089C>A;NG_007509.2:g.16615C>A;NM_001079821.2:c.2157-1798C>A;NM_001127461.2:c.2157-1798C>A;NM_001127462.2:c.2156+2188C>A;NM_001243133.1:c.2151-1798C>A;NM_004895.4:c.2157-1798C>A;NM_183395.2:c.2156+2188C>A 18155978 12067940 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12254453 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247591089C>A;NG_007509.2:g.16615C>A;NM_001079821.2:c.2157-1798C>A;NM_001127461.2:c.2157-1798C>A;NM_001127462.2:c.2156+2188C>A;NM_001243133.1:c.2151-1798C>A;NM_004895.4:c.2157-1798C>A;NM_183395.2:c.2156+2188C>A 35110821 12067940 TA-079.chr1_243917130 2005.03.11 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247591089C>A;NG_007509.2:g.16615C>A;NM_001079821.2:c.2157-1798C>A;NM_001127461.2:c.2157-1798C>A;NM_001127462.2:c.2156+2188C>A;NM_001243133.1:c.2151-1798C>A;NM_004895.4:c.2157-1798C>A;NM_183395.2:c.2156+2188C>A 88051250 12067940 JWB-0217790 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 TSC-CSHL 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 5201390 3938743 TSC1334261 2002.09.20 2003.10.10 2002.10.10 2011.09.09 137 SC_JCM 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 6054102 3938743 NT_031730.5_641204 2003.01.12 2003.10.10 2002.10.10 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 6810142 3938743 NT_031730.6_379356 2003.02.14 2003.10.10 2002.10.10 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 16453780 3938743 CSHL-HuAA-200402.chr1.NT_004836.15_12254500 2004.02.17 2004.03.04 2002.10.10 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 17372533 3938743 CSHL-HuCC-200402.chr1.NT_004836.15_12254500 2004.02.19 2004.03.04 2002.10.10 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 20531642 3938743 WGSA-200403-chr1.chr1.NT_004836.15_12254500 2004.03.18 2004.03.18 2002.10.10 2011.09.09 137 HGSV 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 78377526 3938743 Cor12878_SNV_20070510.chr1_243917177 2007.10.19 2007.10.19 2002.10.10 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 88051252 3938743 JWB-0217791 2008.02.27 2008.02.27 2002.10.10 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 98020137 3938743 1103675395122 2008.03.30 2008.03.30 2002.10.10 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 138997938 3938743 ENSSNP197687 2009.05.18 2009.10.16 2002.10.10 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 165636157 3938743 NA19240_36_chr1_245657759 2009.09.30 2009.09.30 2002.10.10 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 165961920 3938743 NA07022_36_chr1_245657759 2009.09.30 2009.09.30 2002.10.10 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 167597168 3938743 NA20431_36_chr1_245657759 2009.09.30 2009.09.30 2002.10.10 2011.09.09 137 BL 114548 NC_000001.10:g.247591136T>C;NG_007509.2:g.16662T>C;NM_001079821.2:c.2157-1751T>C;NM_001127461.2:c.2157-1751T>C;NM_001127462.2:c.2156+2235T>C;NM_001243133.1:c.2151-1751T>C;NM_004895.4:c.2157-1751T>C;NM_183395.2:c.2156+2235T>C 253948966 3938743 SNP242655_1_245657759 2010.08.19 2010.08.19 2002.10.10 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 88051254 61841182 JWB-2759463 2008.02.27 2008.02.27 2008.03.24 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 98020138 61841182 1103675395123 2008.03.30 2008.03.30 2008.03.24 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 138997935 61841182 ENSSNP197688 2009.05.18 2009.10.16 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 165961924 61841182 NA07022_36_chr1_245657764 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 167597170 61841182 NA20431_36_chr1_245657764 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 BL 114548 NC_000001.10:g.247591141G>A;NG_007509.2:g.16667G>A;NM_001079821.2:c.2157-1746G>A;NM_001127461.2:c.2157-1746G>A;NM_001127462.2:c.2156+2240G>A;NM_001243133.1:c.2151-1746G>A;NM_004895.4:c.2157-1746G>A;NM_183395.2:c.2156+2240G>A 253948969 61841182 SNP242656_1_245657764 2010.08.19 2010.08.19 2008.03.24 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 88051256 61841183 JWB-2759464 2008.02.27 2008.02.27 2008.03.24 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 98020139 61841183 1103675395124 2008.03.30 2008.03.30 2008.03.24 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 138997932 61841183 ENSSNP197689 2009.05.18 2009.10.16 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 165636166 61841183 NA19240_36_chr1_245657771 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 165961925 61841183 NA07022_36_chr1_245657771 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 167597172 61841183 NA20431_36_chr1_245657771 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 BL 114548 NC_000001.10:g.247591148C>T;NG_007509.2:g.16674C>T;NM_001079821.2:c.2157-1739C>T;NM_001127461.2:c.2157-1739C>T;NM_001127462.2:c.2156+2247C>T;NM_001243133.1:c.2151-1739C>T;NM_004895.4:c.2157-1739C>T;NM_183395.2:c.2156+2247C>T 253948972 61841183 SNP242657_1_245657771 2010.08.19 2010.08.19 2008.03.24 2011.09.09 137 ABI 114548 NC_000001.10:g.247591175A>G;NG_007509.2:g.16701A>G;NM_001079821.2:c.2157-1712A>G;NM_001127461.2:c.2157-1712A>G;NM_001127462.2:c.2156+2274A>G;NM_001243133.1:c.2151-1712A>G;NM_004895.4:c.2157-1712A>G;NM_183395.2:c.2156+2274A>G 41332977 34292652 hCV33568130 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591175A>G;NG_007509.2:g.16701A>G;NM_001079821.2:c.2157-1712A>G;NM_001127461.2:c.2157-1712A>G;NM_001127462.2:c.2156+2274A>G;NM_001243133.1:c.2151-1712A>G;NM_004895.4:c.2157-1712A>G;NM_183395.2:c.2156+2274A>G 165636175 34292652 NA19240_36_chr1_245657798 2009.09.30 2009.09.30 2006.03.13 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591177G>A;NG_007509.2:g.16703G>A;NM_001079821.2:c.2157-1710G>A;NM_001127461.2:c.2157-1710G>A;NM_001127462.2:c.2156+2276G>A;NM_001243133.1:c.2151-1710G>A;NM_004895.4:c.2157-1710G>A;NM_183395.2:c.2156+2276G>A 165961930 112121462 NA07022_36_chr1_245657800 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591177G>A;NG_007509.2:g.16703G>A;NM_001079821.2:c.2157-1710G>A;NM_001127461.2:c.2157-1710G>A;NM_001127462.2:c.2156+2276G>A;NM_001243133.1:c.2151-1710G>A;NM_004895.4:c.2157-1710G>A;NM_183395.2:c.2156+2276G>A 167597174 112121462 NA20431_36_chr1_245657800 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591184G>T;NG_007509.2:g.16710G>T;NM_001079821.2:c.2157-1703G>T;NM_001127461.2:c.2157-1703G>T;NM_001127462.2:c.2156+2283G>T;NM_001243133.1:c.2151-1703G>T;NM_004895.4:c.2157-1703G>T;NM_183395.2:c.2156+2283G>T 165961933 112030577 NA07022_36_chr1_245657807 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591184G>T;NG_007509.2:g.16710G>T;NM_001079821.2:c.2157-1703G>T;NM_001127461.2:c.2157-1703G>T;NM_001127462.2:c.2156+2283G>T;NM_001243133.1:c.2151-1703G>T;NM_004895.4:c.2157-1703G>T;NM_183395.2:c.2156+2283G>T 167597176 112030577 NA20431_36_chr1_245657807 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591189A>C;NG_007509.2:g.16715A>C;NM_001079821.2:c.2157-1698A>C;NM_001127461.2:c.2157-1698A>C;NM_001127462.2:c.2156+2288A>C;NM_001243133.1:c.2151-1698A>C;NM_004895.4:c.2157-1698A>C;NM_183395.2:c.2156+2288A>C 165961934 113898156 NA07022_36_chr1_245657812 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591189A>C;NG_007509.2:g.16715A>C;NM_001079821.2:c.2157-1698A>C;NM_001127461.2:c.2157-1698A>C;NM_001127462.2:c.2156+2288A>C;NM_001243133.1:c.2151-1698A>C;NM_004895.4:c.2157-1698A>C;NM_183395.2:c.2156+2288A>C 167597178 113898156 NA20431_36_chr1_245657812 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 ABI 114548 NC_000001.10:g.247591235A>C;NG_007509.2:g.16761A>C;NM_001079821.2:c.2157-1652A>C;NM_001127461.2:c.2157-1652A>C;NM_001127462.2:c.2156+2334A>C;NM_001243133.1:c.2151-1652A>C;NM_004895.4:c.2157-1652A>C;NM_183395.2:c.2156+2334A>C 41208923 34448841 hCV26646018 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591235A>C;NG_007509.2:g.16761A>C;NM_001079821.2:c.2157-1652A>C;NM_001127461.2:c.2157-1652A>C;NM_001127462.2:c.2156+2334A>C;NM_001243133.1:c.2151-1652A>C;NM_004895.4:c.2157-1652A>C;NM_183395.2:c.2156+2334A>C 165636184 34448841 NA19240_36_chr1_245657858 2009.09.30 2009.09.30 2006.03.14 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591235A>C;NG_007509.2:g.16761A>C;NM_001079821.2:c.2157-1652A>C;NM_001127461.2:c.2157-1652A>C;NM_001127462.2:c.2156+2334A>C;NM_001243133.1:c.2151-1652A>C;NM_004895.4:c.2157-1652A>C;NM_183395.2:c.2156+2334A>C 165961938 34448841 NA07022_36_chr1_245657858 2009.09.30 2009.09.30 2006.03.14 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591235A>C;NG_007509.2:g.16761A>C;NM_001079821.2:c.2157-1652A>C;NM_001127461.2:c.2157-1652A>C;NM_001127462.2:c.2156+2334A>C;NM_001243133.1:c.2151-1652A>C;NM_004895.4:c.2157-1652A>C;NM_183395.2:c.2156+2334A>C 167597180 34448841 NA20431_36_chr1_245657858 2009.09.30 2009.09.30 2006.03.14 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247591266_247591267delTG;NG_007509.2:g.16792_16793delTG;NM_001079821.2:c.2157-1621_2157-1620delTG;NM_001127461.2:c.2157-1621_2157-1620delTG;NM_001127462.2:c.2156+2365_2156+2366delTG;NM_001243133.1:c.2151-1621_2151-1620delTG;NM_004895.4:c.2157-1621_2157-1620delTG;NM_183395.2:c.2156+2365_2156+2366delTG 102088630 72350438 INDEL_GP36_2008a_2817303_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591282T>C;NG_007509.2:g.16808T>C;NM_001079821.2:c.2157-1605T>C;NM_001127461.2:c.2157-1605T>C;NM_001127462.2:c.2156+2381T>C;NM_001243133.1:c.2151-1605T>C;NM_004895.4:c.2157-1605T>C;NM_183395.2:c.2156+2381T>C 165636192 113723472 NA19240_36_chr1_245657905 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591282T>C;NG_007509.2:g.16808T>C;NM_001079821.2:c.2157-1605T>C;NM_001127461.2:c.2157-1605T>C;NM_001127462.2:c.2156+2381T>C;NM_001243133.1:c.2151-1605T>C;NM_004895.4:c.2157-1605T>C;NM_183395.2:c.2156+2381T>C 167597182 113723472 NA20431_36_chr1_245657905 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591287G>A;NG_007509.2:g.16813G>A;NM_001079821.2:c.2157-1600G>A;NM_001127461.2:c.2157-1600G>A;NM_001127462.2:c.2156+2386G>A;NM_001243133.1:c.2151-1600G>A;NM_004895.4:c.2157-1600G>A;NM_183395.2:c.2156+2386G>A 165636201 113815112 NA19240_36_chr1_245657910 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591287G>A;NG_007509.2:g.16813G>A;NM_001079821.2:c.2157-1600G>A;NM_001127461.2:c.2157-1600G>A;NM_001127462.2:c.2156+2386G>A;NM_001243133.1:c.2151-1600G>A;NM_004895.4:c.2157-1600G>A;NM_183395.2:c.2156+2386G>A 167597184 113815112 NA20431_36_chr1_245657910 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591294C>T;NG_007509.2:g.16820C>T;NM_001079821.2:c.2157-1593C>T;NM_001127461.2:c.2157-1593C>T;NM_001127462.2:c.2156+2393C>T;NM_001243133.1:c.2151-1593C>T;NM_004895.4:c.2157-1593C>T;NM_183395.2:c.2156+2393C>T 165636211 111635027 NA19240_36_chr1_245657917 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591294C>T;NG_007509.2:g.16820C>T;NM_001079821.2:c.2157-1593C>T;NM_001127461.2:c.2157-1593C>T;NM_001127462.2:c.2156+2393C>T;NM_001243133.1:c.2151-1593C>T;NM_004895.4:c.2157-1593C>T;NM_183395.2:c.2156+2393C>T 167597186 111635027 NA20431_36_chr1_245657917 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247591342G>T;NG_007509.2:g.16868G>T;NM_001079821.2:c.2157-1545G>T;NM_001127461.2:c.2157-1545G>T;NM_001127462.2:c.2156+2441G>T;NM_001243133.1:c.2151-1545G>T;NM_004895.4:c.2157-1545G>T;NM_183395.2:c.2156+2441G>T 205540572 112807309 BCM_CMT_1011-249250 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 GMI 114548 NC_000001.10:g.247591411_247591412insTG;NG_007509.2:g.16937_16938insTG;NM_001079821.2:c.2157-1476_2157-1475insTG;NM_001127461.2:c.2157-1476_2157-1475insTG;NM_001127462.2:c.2156+2510_2156+2511insTG;NM_001243133.1:c.2151-1476_2151-1475insTG;NM_004895.4:c.2157-1476_2157-1475insTG;NM_183395.2:c.2156+2510_2156+2511insTG 288119531 200636098 GMI_AK_INDEL_90631 2010.12.21 2011.12.23 2012.05.04 2012.05.04 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247591465A>G;NG_007509.2:g.16991A>G;NM_001079821.2:c.2157-1422A>G;NM_001127461.2:c.2157-1422A>G;NM_001127462.2:c.2156+2564A>G;NM_001243133.1:c.2151-1422A>G;NM_004895.4:c.2157-1422A>G;NM_183395.2:c.2156+2564A>G 205486961 113786173 BCM_CMT_1011-222579 2010.03.16 2010.03.16 2010.07.04 2011.10.06 137 MPI_MOLGEN 114548 NC_000001.10:g.247591465A>G;NG_007509.2:g.16991A>G;NM_001079821.2:c.2157-1422A>G;NM_001127461.2:c.2157-1422A>G;NM_001127462.2:c.2156+2564A>G;NM_001243133.1:c.2151-1422A>G;NM_004895.4:c.2157-1422A>G;NM_183395.2:c.2156+2564A>G 469117688 113786173 Chromosome1_245658088 2011.08.15 2011.08.15 2010.07.04 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247591473T>C;NG_007509.2:g.16999T>C;NM_001079821.2:c.2157-1414T>C;NM_001127461.2:c.2157-1414T>C;NM_001127462.2:c.2156+2572T>C;NM_001243133.1:c.2151-1414T>C;NM_004895.4:c.2157-1414T>C;NM_183395.2:c.2156+2572T>C 454808131 187001840 20101123_snps_975361_chr1_247591473 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247591492A>G;NG_007509.2:g.17018A>G;NM_001079821.2:c.2157-1395A>G;NM_001127461.2:c.2157-1395A>G;NM_001127462.2:c.2156+2591A>G;NM_001243133.1:c.2151-1395A>G;NM_004895.4:c.2157-1395A>G;NM_183395.2:c.2156+2591A>G 329363782 144367916 20100804_snps_1007318_chr1_247591492 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591500G>T;NG_007509.2:g.17026G>T;NM_001079821.2:c.2157-1387G>T;NM_001127461.2:c.2157-1387G>T;NM_001127462.2:c.2156+2599G>T;NM_001243133.1:c.2151-1387G>T;NM_004895.4:c.2157-1387G>T;NM_183395.2:c.2156+2599G>T 167597188 111450761 NA20431_36_chr1_245658123 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591504G>A;NG_007509.2:g.17030G>A;NM_001079821.2:c.2157-1383G>A;NM_001127461.2:c.2157-1383G>A;NM_001127462.2:c.2156+2603G>A;NM_001243133.1:c.2151-1383G>A;NM_004895.4:c.2157-1383G>A;NM_183395.2:c.2156+2603G>A 167597190 112784242 NA20431_36_chr1_245658127 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591552A>C;NG_007509.2:g.17078A>C;NM_001079821.2:c.2157-1335A>C;NM_001127461.2:c.2157-1335A>C;NM_001127462.2:c.2156+2651A>C;NM_001243133.1:c.2151-1335A>C;NM_004895.4:c.2157-1335A>C;NM_183395.2:c.2156+2651A>C 165636221 112681848 NA19240_36_chr1_245658175 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591577G>A;NG_007509.2:g.17103G>A;NM_001079821.2:c.2157-1310G>A;NM_001127461.2:c.2157-1310G>A;NM_001127462.2:c.2156+2676G>A;NM_001243133.1:c.2151-1310G>A;NM_004895.4:c.2157-1310G>A;NM_183395.2:c.2156+2676G>A 165636228 111557900 NA19240_36_chr1_245658200 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 GMI 114548 NC_000001.10:g.247591577G>A;NG_007509.2:g.17103G>A;NM_001079821.2:c.2157-1310G>A;NM_001127461.2:c.2157-1310G>A;NM_001127462.2:c.2156+2676G>A;NM_001243133.1:c.2151-1310G>A;NM_004895.4:c.2157-1310G>A;NM_183395.2:c.2156+2676G>A 276310513 111557900 GMI_AK_SNP_630680 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247591595delG;NG_007509.2:g.17121delG;NM_001079821.2:c.2157-1292delG;NM_001127461.2:c.2157-1292delG;NM_001127462.2:c.2156+2694delG;NM_001243133.1:c.2151-1292delG;NM_004895.4:c.2157-1292delG;NM_183395.2:c.2156+2694delG 193163326 113114775 BUSHMAN-chr1-245658217-245658218 1.10e-02 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591595delG;NG_007509.2:g.17121delG;NM_001079821.2:c.2157-1292delG;NM_001127461.2:c.2157-1292delG;NM_001127462.2:c.2156+2694delG;NM_001243133.1:c.2151-1292delG;NM_004895.4:c.2157-1292delG;NM_183395.2:c.2156+2694delG 326215329 113114775 YRI_chr1_245658217_indel 1.10e-02 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591595delG;NG_007509.2:g.17121delG;NM_001079821.2:c.2157-1292delG;NM_001127461.2:c.2157-1292delG;NM_001127462.2:c.2156+2694delG;NM_001243133.1:c.2151-1292delG;NM_004895.4:c.2157-1292delG;NM_183395.2:c.2156+2694delG 499190840 113114775 20110316_indels_chr1_247591594_247591594 1.10e-02 2012.03.19 2012.03.19 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591601A>G;NG_007509.2:g.17127A>G;NM_001079821.2:c.2157-1286A>G;NM_001127461.2:c.2157-1286A>G;NM_001127462.2:c.2156+2700A>G;NM_001243133.1:c.2151-1286A>G;NM_004895.4:c.2157-1286A>G;NM_183395.2:c.2156+2700A>G 454808132 190933420 20101123_snps_975362_chr1_247591601 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247591691A>G;NG_007509.2:g.17217A>G;NM_001079821.2:c.2157-1196A>G;NM_001127461.2:c.2157-1196A>G;NM_001127462.2:c.2156+2790A>G;NM_001243133.1:c.2151-1196A>G;NM_004895.4:c.2157-1196A>G;NM_183395.2:c.2156+2790A>G 230995449 76743559 pilot_1_CEU_600078_chr1_245658314 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247591691A>G;NG_007509.2:g.17217A>G;NM_001079821.2:c.2157-1196A>G;NM_001127461.2:c.2157-1196A>G;NM_001127462.2:c.2156+2790A>G;NM_001243133.1:c.2151-1196A>G;NM_004895.4:c.2157-1196A>G;NM_183395.2:c.2156+2790A>G 482298394 76743559 HumanOmni2.5-4v1_B_SNP1-245658314-0_B_R_1616695549 6.40e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247591691A>G;NG_007509.2:g.17217A>G;NM_001079821.2:c.2157-1196A>G;NM_001127461.2:c.2157-1196A>G;NM_001127462.2:c.2156+2790A>G;NM_001243133.1:c.2151-1196A>G;NM_004895.4:c.2157-1196A>G;NM_183395.2:c.2156+2790A>G 483166857 76743559 HumanOmni2.5-4v1_D_kgp341410-0_B_R_1817453741 6.40e-03 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591706T>C;NG_007509.2:g.17232T>C;NM_001079821.2:c.2157-1181T>C;NM_001127461.2:c.2157-1181T>C;NM_001127462.2:c.2156+2805T>C;NM_001243133.1:c.2151-1181T>C;NM_004895.4:c.2157-1181T>C;NM_183395.2:c.2156+2805T>C 219005645 115895204 pilot_1_YRI_815328_chr1_245658329 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BL 114548 NC_000001.10:g.247591947_247591948insA;NG_007509.2:g.17473_17474insA;NM_001079821.2:c.2157-940_2157-939insA;NM_001127461.2:c.2157-940_2157-939insA;NM_001127462.2:c.2156+3046_2156+3047insA;NM_001243133.1:c.2151-940_2151-939insA;NM_004895.4:c.2157-940_2157-939insA;NM_183395.2:c.2156+3046_2156+3047insA 255981165 141489636 SNP15680_1_245658570 3.02e-01 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591947_247591948insA;NG_007509.2:g.17473_17474insA;NM_001079821.2:c.2157-940_2157-939insA;NM_001127461.2:c.2157-940_2157-939insA;NM_001127462.2:c.2156+3046_2156+3047insA;NM_001243133.1:c.2151-940_2151-939insA;NM_004895.4:c.2157-940_2157-939insA;NM_183395.2:c.2156+3046_2156+3047insA 499190844 141489636 20110316_indels_chr1_247591947_247591948 3.02e-01 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247591948delC;NC_000001.10:g.247591948delCinsCTTTTT;NG_007509.2:g.17474delC;NG_007509.2:g.17474delCinsCTTTTT;NM_001079821.2:c.2157-939delC;NM_001079821.2:c.2157-939delCinsCTTTTT;NM_001127461.2:c.2157-939delC;NM_001127461.2:c.2157-939delCinsCTTTTT;NM_001127462.2:c.2156+3047delC;NM_001127462.2:c.2156+3047delCinsCTTTTT;NM_001243133.1:c.2151-939delC;NM_001243133.1:c.2151-939delCinsCTTTTT;NM_004895.4:c.2157-939delC;NM_004895.4:c.2157-939delCinsCTTTTT;NM_183395.2:c.2156+3047delC;NM_183395.2:c.2156+3047delCinsCTTTTT 99842453 71796702 INDEL_GP36_2007a_895291_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 GMI 114548 NC_000001.10:g.247591948C>A;NG_007509.2:g.17474C>A;NM_001079821.2:c.2157-939C>A;NM_001127461.2:c.2157-939C>A;NM_001127462.2:c.2156+3047C>A;NM_001243133.1:c.2151-939C>A;NM_004895.4:c.2157-939C>A;NM_183395.2:c.2156+3047C>A 475604026 199549781 GMI_AK_SNP_8272675 2011.11.23 2011.11.23 2012.05.04 2012.05.04 137 BL 114548 NC_000001.10:g.247591949T>A;NC_000001.10:g.247591949T>C;NG_007509.2:g.17475T>A;NG_007509.2:g.17475T>C;NM_001079821.2:c.2157-938T>A;NM_001079821.2:c.2157-938T>C;NM_001127461.2:c.2157-938T>A;NM_001127461.2:c.2157-938T>C;NM_001127462.2:c.2156+3048T>A;NM_001127462.2:c.2156+3048T>C;NM_001243133.1:c.2151-938T>A;NM_001243133.1:c.2151-938T>C;NM_004895.4:c.2157-938T>A;NM_004895.4:c.2157-938T>C;NM_183395.2:c.2156+3048T>A;NM_183395.2:c.2156+3048T>C 253948975 140764778 SNP242658_1_245658572 2010.08.19 2010.08.19 2011.05.09 2012.11.28 137 GMI 114548 NC_000001.10:g.247591949T>A;NC_000001.10:g.247591949T>C;NG_007509.2:g.17475T>A;NG_007509.2:g.17475T>C;NM_001079821.2:c.2157-938T>A;NM_001079821.2:c.2157-938T>C;NM_001127461.2:c.2157-938T>A;NM_001127461.2:c.2157-938T>C;NM_001127462.2:c.2156+3048T>A;NM_001127462.2:c.2156+3048T>C;NM_001243133.1:c.2151-938T>A;NM_001243133.1:c.2151-938T>C;NM_004895.4:c.2157-938T>A;NM_004895.4:c.2157-938T>C;NM_183395.2:c.2156+3048T>A;NM_183395.2:c.2156+3048T>C 475604027 140764778 GMI_AK_SNP_8272676 2011.11.23 2011.11.23 2011.05.09 2012.11.28 137 HGSV 114548 NC_000001.10:g.247591950T>A;NG_007509.2:g.17476T>A;NM_001079821.2:c.2157-937T>A;NM_001127461.2:c.2157-937T>A;NM_001127462.2:c.2156+3049T>A;NM_001243133.1:c.2151-937T>A;NM_004895.4:c.2157-937T>A;NM_183395.2:c.2156+3049T>A 81671275 56883110 Cor18956_SNV_20070510.chr1_243917991 2007.12.01 2007.12.01 2007.12.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247591950T>A;NG_007509.2:g.17476T>A;NM_001079821.2:c.2157-937T>A;NM_001127461.2:c.2157-937T>A;NM_001127462.2:c.2156+3049T>A;NM_001243133.1:c.2151-937T>A;NM_004895.4:c.2157-937T>A;NM_183395.2:c.2156+3049T>A 475604028 56883110 GMI_AK_SNP_8272677 2011.11.23 2011.11.23 2007.12.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591952_247591958delTTTTAAA;NG_007509.2:g.17478_17484delTTTTAAA;NM_001079821.2:c.2157-935_2157-929delTTTTAAA;NM_001127461.2:c.2157-935_2157-929delTTTTAAA;NM_001127462.2:c.2156+3051_2156+3057delTTTTAAA;NM_001243133.1:c.2151-935_2151-929delTTTTAAA;NM_004895.4:c.2157-935_2157-929delTTTTAAA;NM_183395.2:c.2156+3051_2156+3057delTTTTAAA 499190848 200394543 20110316_indels_chr1_247591951_247591957 3.00e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591953_247591958delTTTAAA;NG_007509.2:g.17479_17484delTTTAAA;NM_001079821.2:c.2157-934_2157-929delTTTAAA;NM_001127461.2:c.2157-934_2157-929delTTTAAA;NM_001127462.2:c.2156+3052_2156+3057delTTTAAA;NM_001243133.1:c.2151-934_2151-929delTTTAAA;NM_004895.4:c.2157-934_2157-929delTTTAAA;NM_183395.2:c.2156+3052_2156+3057delTTTAAA 326158602 148815156 JPTCHB_chr1_245658575_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247591953_247591958delTTTAAA;NG_007509.2:g.17479_17484delTTTAAA;NM_001079821.2:c.2157-934_2157-929delTTTAAA;NM_001127461.2:c.2157-934_2157-929delTTTAAA;NM_001127462.2:c.2156+3052_2156+3057delTTTAAA;NM_001243133.1:c.2151-934_2151-929delTTTAAA;NM_004895.4:c.2157-934_2157-929delTTTAAA;NM_183395.2:c.2156+3052_2156+3057delTTTAAA 326164542 148815156 CEU_chr1_245658575_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 ABI 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 41299312 35931358 hCV26646019 variation has been flagged as failed by submitter 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 112114411 35931358 NA19240_2008_12_16_266116_chr1_245658585 variation has been flagged as failed by submitter 2008.12.17 2008.12.17 2006.03.15 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 119287736 35931358 NA18507_000265593_NCBI36.1_chr1_245658585 variation has been flagged as failed by submitter 2009.01.22 2009.01.22 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 165636238 35931358 NA19240_36_chr1_245658585 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 165961940 35931358 NA07022_36_chr1_245658585 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2006.03.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247591962A>G;NG_007509.2:g.17488A>G;NM_001079821.2:c.2157-925A>G;NM_001127461.2:c.2157-925A>G;NM_001127462.2:c.2156+3061A>G;NM_001243133.1:c.2151-925A>G;NM_004895.4:c.2157-925A>G;NM_183395.2:c.2156+3061A>G 276310514 35931358 GMI_AK_SNP_630681 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592015G>A;NG_007509.2:g.17541G>A;NM_001079821.2:c.2157-872G>A;NM_001127461.2:c.2157-872G>A;NM_001127462.2:c.2156+3114G>A;NM_001243133.1:c.2151-872G>A;NM_004895.4:c.2157-872G>A;NM_183395.2:c.2156+3114G>A 219005647 115274623 pilot_1_YRI_815330_chr1_245658638 2.43e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247592015G>A;NG_007509.2:g.17541G>A;NM_001079821.2:c.2157-872G>A;NM_001127461.2:c.2157-872G>A;NM_001127462.2:c.2156+3114G>A;NM_001243133.1:c.2151-872G>A;NM_004895.4:c.2157-872G>A;NM_183395.2:c.2156+3114G>A 230995451 115274623 pilot_1_CEU_600080_chr1_245658638 2.43e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247592026G>A;NG_007509.2:g.17552G>A;NM_001079821.2:c.2157-861G>A;NM_001127461.2:c.2157-861G>A;NM_001127462.2:c.2156+3125G>A;NM_001243133.1:c.2151-861G>A;NM_004895.4:c.2157-861G>A;NM_183395.2:c.2156+3125G>A 329363784 148743352 20100804_snps_1007320_chr1_247592026 2.52e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 114548 NC_000001.10:g.247592061G>A;NG_007509.2:g.17587G>A;NM_001079821.2:c.2157-826G>A;NM_001127461.2:c.2157-826G>A;NM_001127462.2:c.2156+3160G>A;NM_001243133.1:c.2151-826G>A;NM_004895.4:c.2157-826G>A;NM_183395.2:c.2156+3160G>A 80772864 60844398 Cor18507_SNV_20070510.chr1_243918102 1.01e-02 2007.11.26 2007.11.26 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592061G>A;NG_007509.2:g.17587G>A;NM_001079821.2:c.2157-826G>A;NM_001127461.2:c.2157-826G>A;NM_001127462.2:c.2156+3160G>A;NM_001243133.1:c.2151-826G>A;NM_004895.4:c.2157-826G>A;NM_183395.2:c.2156+3160G>A 329363785 60844398 20100804_snps_1007321_chr1_247592061 1.01e-02 2011.03.22 2011.03.22 2007.12.16 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247592145G>A;NG_007509.2:g.17671G>A;NM_001079821.2:c.2157-742G>A;NM_001127461.2:c.2157-742G>A;NM_001127462.2:c.2156+3244G>A;NM_001243133.1:c.2151-742G>A;NM_004895.4:c.2157-742G>A;NM_183395.2:c.2156+3244G>A 18197772 12089794 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12255509 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 20460174 12728998 WGSA-200403-chr1.chr1.NT_004836.15_12255539 1.84e-01 2004.03.18 2004.03.18 2004.04.05 2012.11.28 137 ABI 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 41252363 12728998 hCV26646020 1.84e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 85249968 12728998 Cor18517_SNV_20070510.chr1_243918216 1.84e-01 2007.12.08 2007.12.08 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 99306021 12728998 1103675395125 1.84e-01 2008.04.03 2008.04.03 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 112114414 12728998 NA19240_2008_12_16_266117_chr1_245658798 1.84e-01 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 119287738 12728998 NA18507_000265594_NCBI36.1_chr1_245658798 1.84e-01 2009.01.22 2009.01.22 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 165636247 12728998 NA19240_36_chr1_245658798 1.84e-01 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 165961945 12728998 NA07022_36_chr1_245658798 1.84e-01 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 205472335 12728998 BCM_CMT_1011-215244 1.84e-01 2010.03.16 2010.03.16 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 219005648 12728998 pilot_1_YRI_815331_chr1_245658798 1.84e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 230995452 12728998 pilot_1_CEU_600081_chr1_245658798 1.84e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 238590430 12728998 pilot_1_CHB+JPT_475507_chr1_245658798 1.84e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 276310515 12728998 GMI_AK_SNP_630682 1.84e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 482298397 12728998 HumanOmni2.5-4v1_B_SNP1-245658798-0_B_F_1621375723 1.84e-01 2012.02.01 2012.02.01 2004.04.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247592175C>T;NG_007509.2:g.17701C>T;NM_001079821.2:c.2157-712C>T;NM_001127461.2:c.2157-712C>T;NM_001127462.2:c.2156+3274C>T;NM_001243133.1:c.2151-712C>T;NM_004895.4:c.2157-712C>T;NM_183395.2:c.2156+3274C>T 483165161 12728998 HumanOmni2.5-4v1_D_kgp3404884-0_B_F_1818651560 1.84e-01 2012.02.02 2012.02.02 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592181C>T;NG_007509.2:g.17707C>T;NM_001079821.2:c.2157-706C>T;NM_001127461.2:c.2157-706C>T;NM_001127462.2:c.2156+3280C>T;NM_001243133.1:c.2151-706C>T;NM_004895.4:c.2157-706C>T;NM_183395.2:c.2156+3280C>T 454808133 182771627 20101123_snps_975363_chr1_247592181 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247592187delA;NG_007509.2:g.17713delA;NM_001079821.2:c.2157-700delA;NM_001127461.2:c.2157-700delA;NM_001127462.2:c.2156+3286delA;NM_001243133.1:c.2151-700delA;NM_004895.4:c.2157-700delA;NM_183395.2:c.2156+3286delA 326164545 143398365 CEU_chr1_245658809_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247592188delT;NG_007509.2:g.17714delT;NM_001079821.2:c.2157-699delT;NM_001127461.2:c.2157-699delT;NM_001127462.2:c.2156+3287delT;NM_001243133.1:c.2151-699delT;NM_004895.4:c.2157-699delT;NM_183395.2:c.2156+3287delT 98584928 71568613 1103675395126 2008.04.01 2008.04.01 2009.02.13 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 11367485 7524914 chr1.NT_004536.14_1591744 5.95e-02 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 17340218 7524914 CSHL-HuCC-200402.chr1.NT_004836.15_12255556 5.95e-02 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 19112762 7524914 CSHL-HuDD-200402.chr1.NT_004836.15_12255556 5.95e-02 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 20460212 7524914 WGSA-200403-chr1.chr1.NT_004836.15_12255556 5.95e-02 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 81283570 7524914 Cor18507_SNV_20070510.chr1_243918233 5.95e-02 2007.11.29 2007.11.29 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 84766325 7524914 Cor18517_SNV_20070510.chr1_243918233 5.95e-02 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 88051259 7524914 JWB-0217792 5.95e-02 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 98020140 7524914 1103675395132 5.95e-02 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 106647972 7524914 BGI_rs7524914 5.95e-02 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 119287740 7524914 NA18507_000265595_NCBI36.1_chr1_245658815 5.95e-02 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 131774276 7524914 ENSSNP197690 5.95e-02 2009.05.11 2009.10.14 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 156563894 7524914 GMI_SNP_117656511 5.95e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 165636257 7524914 NA19240_36_chr1_245658815 5.95e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 165961947 7524914 NA07022_36_chr1_245658815 5.95e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 205524500 7524914 BCM_CMT_1011-241145 5.95e-02 2010.03.16 2010.03.16 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 253948978 7524914 SNP242659_1_245658815 5.95e-02 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 276310516 7524914 GMI_AK_SNP_630683 5.95e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247592192delC;NG_007509.2:g.17718delC;NM_001079821.2:c.2157-695delC;NM_001127461.2:c.2157-695delC;NM_001127462.2:c.2156+3291delC;NM_001243133.1:c.2151-695delC;NM_004895.4:c.2157-695delC;NM_183395.2:c.2156+3291delC 288119533 199724776 GMI_AK_INDEL_90632 1.17e-01 2010.12.21 2011.12.23 2012.05.04 2012.11.28 137 PJP 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 290789435 7524914 SNP_295793_chr1_245658815 5.95e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 454808134 7524914 20101123_snps_975364_chr1_247592192 5.95e-02 2011.07.20 2011.07.20 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 482298400 7524914 HumanOmni2.5-4v1_B_SNP1-245658815-0_B_F_1618211218 5.95e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247592192C>T;NG_007509.2:g.17718C>T;NM_001079821.2:c.2157-695C>T;NM_001127461.2:c.2157-695C>T;NM_001127462.2:c.2156+3291C>T;NM_001243133.1:c.2151-695C>T;NM_004895.4:c.2157-695C>T;NM_183395.2:c.2156+3291C>T 483558695 7524914 HumanOmni2.5-4v1_D_kgp5537812-0_B_F_1821380870 5.95e-02 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592192delC;NG_007509.2:g.17718delC;NM_001079821.2:c.2157-695delC;NM_001127461.2:c.2157-695delC;NM_001127462.2:c.2156+3291delC;NM_001243133.1:c.2151-695delC;NM_004895.4:c.2157-695delC;NM_183395.2:c.2156+3291delC 499190853 199724776 20110316_indels_chr1_247592191_247592191 1.17e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 GMI 114548 NC_000001.10:g.247592197T>C;NG_007509.2:g.17723T>C;NM_001079821.2:c.2157-690T>C;NM_001127461.2:c.2157-690T>C;NM_001127462.2:c.2156+3296T>C;NM_001243133.1:c.2151-690T>C;NM_004895.4:c.2157-690T>C;NM_183395.2:c.2156+3296T>C 276310517 201943707 GMI_AK_SNP_630684 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 114548 NC_000001.10:g.247592198C>T;NG_007509.2:g.17724C>T;NM_001079821.2:c.2157-689C>T;NM_001127461.2:c.2157-689C>T;NM_001127462.2:c.2156+3297C>T;NM_001243133.1:c.2151-689C>T;NM_004895.4:c.2157-689C>T;NM_183395.2:c.2156+3297C>T 276310518 199999762 GMI_AK_SNP_630685 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247592265G>A;NG_007509.2:g.17791G>A;NM_001079821.2:c.2157-622G>A;NM_001127461.2:c.2157-622G>A;NM_001127462.2:c.2156+3364G>A;NM_001243133.1:c.2151-622G>A;NM_004895.4:c.2157-622G>A;NM_183395.2:c.2156+3364G>A 329363786 151244608 20100804_snps_1007322_chr1_247592265 2.52e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247592277T>C;NG_007509.2:g.17803T>C;NM_001079821.2:c.2157-610T>C;NM_001127461.2:c.2157-610T>C;NM_001127462.2:c.2156+3376T>C;NM_001243133.1:c.2151-610T>C;NM_004895.4:c.2157-610T>C;NM_183395.2:c.2156+3376T>C 205494009 113181397 BCM_CMT_1011-226012 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247592335C>T;NG_007509.2:g.17861C>T;NM_001079821.2:c.2157-552C>T;NM_001127461.2:c.2157-552C>T;NM_001127462.2:c.2156+3434C>T;NM_001243133.1:c.2151-552C>T;NM_004895.4:c.2157-552C>T;NM_183395.2:c.2156+3434C>T 454808135 191582990 20101123_snps_975365_chr1_247592335 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247592461C>G;NG_007509.2:g.17987C>G;NM_001079821.2:c.2157-426C>G;NM_001127461.2:c.2157-426C>G;NM_001127462.2:c.2156+3560C>G;NM_001243133.1:c.2151-426C>G;NM_004895.4:c.2157-426C>G;NM_183395.2:c.2156+3560C>G 205540904 112817892 BCM_CMT_1011-249417 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247592470C>G;NG_007509.2:g.17996C>G;NM_001079821.2:c.2157-417C>G;NM_001127461.2:c.2157-417C>G;NM_001127462.2:c.2156+3569C>G;NM_001243133.1:c.2151-417C>G;NM_004895.4:c.2157-417C>G;NM_183395.2:c.2156+3569C>G 18259381 12125234 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12255834 2.20e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592470C>G;NG_007509.2:g.17996C>G;NM_001079821.2:c.2157-417C>G;NM_001127461.2:c.2157-417C>G;NM_001127462.2:c.2156+3569C>G;NM_001243133.1:c.2151-417C>G;NM_004895.4:c.2157-417C>G;NM_183395.2:c.2156+3569C>G 329363787 12125234 20100804_snps_1007323_chr1_247592470 2.20e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 GEH 114548 NM_001079821.2:c.2157-126G>A ARRAY(0x61290880) 512893238 199476223 NLRP3:10665 germline untested 2012.04.16 2012.04.16 2012.04.16 2012.09.29 137 GEH 114548 NM_001079821.2:c.2157-109C>A NC_000001.10:g.247592778C>A;NG_007509.2:g.18304C>A;NM_001079821.2:c.2157-109C>A;NM_001127461.2:c.2157-109C>A;NM_001127462.2:c.2156+3877C>A;NM_001243133.1:c.2151-109C>A;NM_004895.4:c.2157-109C>A;NM_183395.2:c.2156+3877C>A 506396365 199475734 NLRP3:10682 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 CLINSEQ_SNP 114548 NC_000001.10:g.247592841A>G;NG_007509.2:g.18367A>G;NM_001079821.2:c.2157-46A>G;NM_001127461.2:c.2157-46A>G;NM_001127462.2:c.2156+3940A>G;NM_001243133.1:c.2151-46A>G;NM_004895.4:c.2157-46A>G;NM_183395.2:c.2156+3940A>G 491619253 200688755 SNV-chr1-245659464 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592842T>C;NG_007509.2:g.18368T>C;NM_001079821.2:c.2157-45T>C;NM_001127461.2:c.2157-45T>C;NM_001127462.2:c.2156+3941T>C;NM_001243133.1:c.2151-45T>C;NM_004895.4:c.2157-45T>C;NM_183395.2:c.2156+3941T>C 491238209 200532076 chr1_245659465 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592844C>T;NG_007509.2:g.18370C>T;NM_001079821.2:c.2157-43C>T;NM_001127461.2:c.2157-43C>T;NM_001127462.2:c.2156+3943C>T;NM_001243133.1:c.2151-43C>T;NM_004895.4:c.2157-43C>T;NM_183395.2:c.2156+3943C>T 491238210 201497580 chr1_245659467 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592863G>C;NG_007509.2:g.18389G>C;NM_001079821.2:c.2157-24G>C;NM_001127461.2:c.2157-24G>C;NM_001127462.2:c.2156+3962G>C;NM_001243133.1:c.2151-24G>C;NM_004895.4:c.2157-24G>C;NM_183395.2:c.2156+3962G>C 491238211 200083590 chr1_245659486 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592876C>T;NG_007509.2:g.18402C>T;NM_001079821.2:c.2157-11C>T;NM_001127461.2:c.2157-11C>T;NM_001127462.2:c.2156+3975C>T;NM_001243133.1:c.2151-11C>T;NM_004895.4:c.2157-11C>T;NM_183395.2:c.2156+3975C>T 491238212 201019209 chr1_245659499 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247592880T>C;NG_007509.2:g.18406T>C;NM_001079821.2:c.2157-7T>C;NM_001127461.2:c.2157-7T>C;NM_001127462.2:c.2156+3979T>C;NM_001243133.1:c.2151-7T>C;NM_004895.4:c.2157-7T>C;NM_183395.2:c.2156+3979T>C 219005650 116546330 pilot_1_YRI_815333_chr1_245659503 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592880T>C;NG_007509.2:g.18406T>C;NM_001079821.2:c.2157-7T>C;NM_001127461.2:c.2157-7T>C;NM_001127462.2:c.2156+3979T>C;NM_001243133.1:c.2151-7T>C;NM_004895.4:c.2157-7T>C;NM_183395.2:c.2156+3979T>C 489800514 116546330 20110521_exome_333980_chr1_247592880 1.80e-03 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592887A>T;NG_007509.2:g.18413A>T;NM_001079821.2:c.2157A>T;NM_001127461.2:c.2157A>T;NM_001127462.2:c.2156+3986A>T;NM_001243133.1:c.2151A>T;NM_004895.4:c.2157A>T;NM_183395.2:c.2156+3986A>T;NP_001073289.1:p.Gly719=;NP_001120933.1:p.Gly719=;NP_001230062.1:p.Gly717=;NP_004886.3:p.Gly719= 491238213 201363745 chr1_245659510 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247592893G>A;NG_007509.2:g.18419G>A;NM_001079821.2:c.2163G>A;NM_001127461.2:c.2163G>A;NM_001127462.2:c.2156+3992G>A;NM_001243133.1:c.2157G>A;NM_004895.4:c.2163G>A;NM_183395.2:c.2156+3992G>A;NP_001073289.1:p.Val721=;NP_001120933.1:p.Val721=;NP_001230062.1:p.Val719=;NP_004886.3:p.Val721= 488705575 201515412 20110521_exome_29264_chr1_247592893 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592907C>A;NG_007509.2:g.18433C>A;NM_001079821.2:c.2177C>A;NM_001127461.2:c.2177C>A;NM_001127462.2:c.2156+4006C>A;NM_001243133.1:c.2171C>A;NM_004895.4:c.2177C>A;NM_183395.2:c.2156+4006C>A;NP_001073289.1:p.Thr726Asn;NP_001120933.1:p.Thr726Asn;NP_001230062.1:p.Thr724Asn;NP_004886.3:p.Thr726Asn 491238214 200018240 chr1_245659530 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592908T>A;NG_007509.2:g.18434T>A;NM_001079821.2:c.2178T>A;NM_001127461.2:c.2178T>A;NM_001127462.2:c.2156+4007T>A;NM_001243133.1:c.2172T>A;NM_004895.4:c.2178T>A;NM_183395.2:c.2156+4007T>A;NP_001073289.1:p.Thr726=;NP_001120933.1:p.Thr726=;NP_001230062.1:p.Thr724=;NP_004886.3:p.Thr726= 491238215 201102829 chr1_245659531 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247592912A>G;NG_007509.2:g.18438A>G;NM_001079821.2:c.2182A>G;NM_001127461.2:c.2182A>G;NM_001127462.2:c.2156+4011A>G;NM_001243133.1:c.2176A>G;NM_004895.4:c.2182A>G;NM_183395.2:c.2156+4011A>G;NP_001073289.1:p.Ser728Gly;NP_001120933.1:p.Ser728Gly;NP_001230062.1:p.Ser726Gly;NP_004886.3:p.Ser728Gly 342040923 147946775 ESP2500-chr1-247592912 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592912A>G;NG_007509.2:g.18438A>G;NM_001079821.2:c.2182A>G;NM_001127461.2:c.2182A>G;NM_001127462.2:c.2156+4011A>G;NM_001243133.1:c.2176A>G;NM_004895.4:c.2182A>G;NM_183395.2:c.2156+4011A>G;NP_001073289.1:p.Ser728Gly;NP_001120933.1:p.Ser728Gly;NP_001230062.1:p.Ser726Gly;NP_004886.3:p.Ser728Gly 488705577 147946775 20110521_exome_29265_chr1_247592912 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592912A>G;NG_007509.2:g.18438A>G;NM_001079821.2:c.2182A>G;NM_001127461.2:c.2182A>G;NM_001127462.2:c.2156+4011A>G;NM_001243133.1:c.2176A>G;NM_004895.4:c.2182A>G;NM_183395.2:c.2156+4011A>G;NP_001073289.1:p.Ser728Gly;NP_001120933.1:p.Ser728Gly;NP_001230062.1:p.Ser726Gly;NP_004886.3:p.Ser728Gly 491238216 147946775 chr1_245659535 5.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247592912A>G;NG_007509.2:g.18438A>G;NM_001079821.2:c.2182A>G;NM_001127461.2:c.2182A>G;NM_001127462.2:c.2156+4011A>G;NM_001243133.1:c.2176A>G;NM_004895.4:c.2182A>G;NM_183395.2:c.2156+4011A>G;NP_001073289.1:p.Ser728Gly;NP_001120933.1:p.Ser728Gly;NP_001230062.1:p.Ser726Gly;NP_004886.3:p.Ser728Gly 491313838 147946775 nonsyn_30065_chr_1_247592912 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247592912A>G;NG_007509.2:g.18438A>G;NM_001079821.2:c.2182A>G;NM_001127461.2:c.2182A>G;NM_001127462.2:c.2156+4011A>G;NM_001243133.1:c.2176A>G;NM_004895.4:c.2182A>G;NM_183395.2:c.2156+4011A>G;NP_001073289.1:p.Ser728Gly;NP_001120933.1:p.Ser728Gly;NP_001230062.1:p.Ser726Gly;NP_004886.3:p.Ser728Gly 491619254 147946775 SNV-chr1-245659535 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592913G>C;NG_007509.2:g.18439G>C;NM_001079821.2:c.2183G>C;NM_001127461.2:c.2183G>C;NM_001127462.2:c.2156+4012G>C;NM_001243133.1:c.2177G>C;NM_004895.4:c.2183G>C;NM_183395.2:c.2156+4012G>C;NP_001073289.1:p.Ser728Thr;NP_001120933.1:p.Ser728Thr;NP_001230062.1:p.Ser726Thr;NP_004886.3:p.Ser728Thr 491238217 200199289 chr1_245659536 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247592921C>A;NG_007509.2:g.18447C>A;NM_001079821.2:c.2191C>A;NM_001127461.2:c.2191C>A;NM_001127462.2:c.2156+4020C>A;NM_001243133.1:c.2185C>A;NM_004895.4:c.2191C>A;NM_183395.2:c.2156+4020C>A;NP_001073289.1:p.Arg731=;NP_001120933.1:p.Arg731=;NP_001230062.1:p.Arg729=;NP_004886.3:p.Arg731= 342040924 148590318 ESP2500-chr1-247592921 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247592947C>T;NG_007509.2:g.18473C>T;NM_001079821.2:c.2217C>T;NM_001127461.2:c.2217C>T;NM_001127462.2:c.2156+4046C>T;NM_001243133.1:c.2211C>T;NM_004895.4:c.2217C>T;NM_183395.2:c.2156+4046C>T;NP_001073289.1:p.Thr739=;NP_001120933.1:p.Thr739=;NP_001230062.1:p.Thr737=;NP_004886.3:p.Thr739= 491238218 200929917 chr1_245659570 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247592950C>G;NC_000001.10:g.247592950C>T;NG_007509.2:g.18476C>G;NG_007509.2:g.18476C>T;NM_001079821.2:c.2220C>G;NM_001079821.2:c.2220C>T;NM_001127461.2:c.2220C>G;NM_001127461.2:c.2220C>T;NM_001127462.2:c.2156+4049C>G;NM_001127462.2:c.2156+4049C>T;NM_001243133.1:c.2214C>G;NM_001243133.1:c.2214C>T;NM_004895.4:c.2220C>G;NM_004895.4:c.2220C>T;NM_183395.2:c.2156+4049C>G;NM_183395.2:c.2156+4049C>T;NP_001073289.1:p.Ser740=;NP_001073289.1:p.Ser740Arg;NP_001120933.1:p.Ser740=;NP_001120933.1:p.Ser740Arg;NP_001230062.1:p.Ser738=;NP_001230062.1:p.Ser738Arg;NP_004886.3:p.Ser740=;NP_004886.3:p.Ser740Arg 454808136 183128734 20101123_snps_975366_chr1_247592950 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247592950C>G;NC_000001.10:g.247592950C>T;NG_007509.2:g.18476C>G;NG_007509.2:g.18476C>T;NM_001079821.2:c.2220C>G;NM_001079821.2:c.2220C>T;NM_001127461.2:c.2220C>G;NM_001127461.2:c.2220C>T;NM_001127462.2:c.2156+4049C>G;NM_001127462.2:c.2156+4049C>T;NM_001243133.1:c.2214C>G;NM_001243133.1:c.2214C>T;NM_004895.4:c.2220C>G;NM_004895.4:c.2220C>T;NM_183395.2:c.2156+4049C>G;NM_183395.2:c.2156+4049C>T;NP_001073289.1:p.Ser740=;NP_001073289.1:p.Ser740Arg;NP_001120933.1:p.Ser740=;NP_001120933.1:p.Ser740Arg;NP_001230062.1:p.Ser738=;NP_001230062.1:p.Ser738Arg;NP_004886.3:p.Ser740=;NP_004886.3:p.Ser740Arg 489800516 183128734 20110521_exome_333981_chr1_247592950 1.40e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592950C>G;NC_000001.10:g.247592950C>T;NG_007509.2:g.18476C>G;NG_007509.2:g.18476C>T;NM_001079821.2:c.2220C>G;NM_001079821.2:c.2220C>T;NM_001127461.2:c.2220C>G;NM_001127461.2:c.2220C>T;NM_001127462.2:c.2156+4049C>G;NM_001127462.2:c.2156+4049C>T;NM_001243133.1:c.2214C>G;NM_001243133.1:c.2214C>T;NM_004895.4:c.2220C>G;NM_004895.4:c.2220C>T;NM_183395.2:c.2156+4049C>G;NM_183395.2:c.2156+4049C>T;NP_001073289.1:p.Ser740=;NP_001073289.1:p.Ser740Arg;NP_001120933.1:p.Ser740=;NP_001120933.1:p.Ser740Arg;NP_001230062.1:p.Ser738=;NP_001230062.1:p.Ser738Arg;NP_004886.3:p.Ser740=;NP_004886.3:p.Ser740Arg 491238219 183128734 chr1_245659573 1.40e-03 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247592955G>A;NG_007509.2:g.18481G>A;NM_001079821.2:c.2225G>A;NM_001127461.2:c.2225G>A;NM_001127462.2:c.2156+4054G>A;NM_001243133.1:c.2219G>A;NM_004895.4:c.2225G>A;NM_183395.2:c.2156+4054G>A;NP_001073289.1:p.Ser742Asn;NP_001120933.1:p.Ser742Asn;NP_001230062.1:p.Ser740Asn;NP_004886.3:p.Ser742Asn 491238220 200371066 chr1_245659578 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592961C>T;NG_007509.2:g.18487C>T;NM_001079821.2:c.2231C>T;NM_001127461.2:c.2231C>T;NM_001127462.2:c.2156+4060C>T;NM_001243133.1:c.2225C>T;NM_004895.4:c.2231C>T;NM_183395.2:c.2156+4060C>T;NP_001073289.1:p.Thr744Ile;NP_001120933.1:p.Thr744Ile;NP_001230062.1:p.Thr742Ile;NP_004886.3:p.Thr744Ile 491238221 201525090 chr1_245659584 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247592977T>C;NG_007509.2:g.18503T>C;NM_001079821.2:c.2247T>C;NM_001127461.2:c.2247T>C;NM_001127462.2:c.2156+4076T>C;NM_001243133.1:c.2241T>C;NM_004895.4:c.2247T>C;NM_183395.2:c.2156+4076T>C;NP_001073289.1:p.Ser749=;NP_001120933.1:p.Ser749=;NP_001230062.1:p.Ser747=;NP_004886.3:p.Ser749= 491238222 199535084 chr1_245659600 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247592983T>G;NG_007509.2:g.18509T>G;NM_001079821.2:c.2253T>G;NM_001127461.2:c.2253T>G;NM_001127462.2:c.2156+4082T>G;NM_001243133.1:c.2247T>G;NM_004895.4:c.2253T>G;NM_183395.2:c.2156+4082T>G;NP_001073289.1:p.Asn751Lys;NP_001120933.1:p.Asn751Lys;NP_001230062.1:p.Asn749Lys;NP_004886.3:p.Asn751Lys 342040926 151043442 ESP2500-chr1-247592983 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247592987C>G;NG_007509.2:g.18513C>G;NM_001079821.2:c.2257C>G;NM_001127461.2:c.2257C>G;NM_001127462.2:c.2156+4086C>G;NM_001243133.1:c.2251C>G;NM_004895.4:c.2257C>G;NM_183395.2:c.2156+4086C>G;NP_001073289.1:p.Leu753Val;NP_001120933.1:p.Leu753Val;NP_001230062.1:p.Leu751Val;NP_004886.3:p.Leu753Val 491238223 200395118 chr1_245659610 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.2263G>C NC_000001.10:g.247592999G>C;NG_007509.2:g.18525G>C;NM_001079821.2:c.2269G>C;NM_001127461.2:c.2269G>C;NM_001127462.2:c.2156+4098G>C;NM_001243133.1:c.2263G>C;NM_004895.4:c.2269G>C;NM_183395.2:c.2156+4098G>C;NP_001073289.1:p.Gly757Arg;NP_001120933.1:p.Gly757Arg;NP_001230062.1:p.Gly755Arg;NP_004886.3:p.Gly757Arg 244254960 180177469 512 untested 2011.09.08 2011.09.08 2011.09.08 2012.09.26 137 UMAI 114548 NM_001243133.1:c.2264G>C NC_000001.10:g.247593000G>C;NG_007509.2:g.18526G>C;NM_001079821.2:c.2270G>C;NM_001127461.2:c.2270G>C;NM_001127462.2:c.2156+4099G>C;NM_001243133.1:c.2264G>C;NM_004895.4:c.2270G>C;NM_183395.2:c.2156+4099G>C;NP_001073289.1:p.Gly757Ala;NP_001120933.1:p.Gly757Ala;NP_001230062.1:p.Gly755Ala;NP_004886.3:p.Gly757Ala 469341495 180177473 564 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 GSK-GENETICS 114548 NC_000001.10:g.247593006G>C;NG_007509.2:g.18532G>C;NM_001079821.2:c.2276G>C;NM_001127461.2:c.2276G>C;NM_001127462.2:c.2156+4105G>C;NM_001243133.1:c.2270G>C;NM_004895.4:c.2276G>C;NM_183395.2:c.2156+4105G>C;NP_001073289.1:p.Arg759Thr;NP_001120933.1:p.Arg759Thr;NP_001230062.1:p.Arg757Thr;NP_004886.3:p.Arg759Thr 491238224 201466599 chr1_245659629 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247593022G>A;NG_007509.2:g.18548G>A;NM_001079821.2:c.2292G>A;NM_001127461.2:c.2292G>A;NM_001127462.2:c.2156+4121G>A;NM_001243133.1:c.2286G>A;NM_004895.4:c.2292G>A;NM_183395.2:c.2156+4121G>A;NP_001073289.1:p.Thr764=;NP_001120933.1:p.Thr764=;NP_001230062.1:p.Thr762=;NP_004886.3:p.Thr764= 491238225 199765599 chr1_245659645 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247593033C>T;NG_007509.2:g.18559C>T;NM_001079821.2:c.2303C>T;NM_001127461.2:c.2303C>T;NM_001127462.2:c.2156+4132C>T;NM_001243133.1:c.2297C>T;NM_004895.4:c.2303C>T;NM_183395.2:c.2156+4132C>T;NP_001073289.1:p.Pro768Leu;NP_001120933.1:p.Pro768Leu;NP_001230062.1:p.Pro766Leu;NP_004886.3:p.Pro768Leu 454808137 187819424 20101123_snps_975367_chr1_247593033 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593033C>T;NG_007509.2:g.18559C>T;NM_001079821.2:c.2303C>T;NM_001127461.2:c.2303C>T;NM_001127462.2:c.2156+4132C>T;NM_001243133.1:c.2297C>T;NM_004895.4:c.2303C>T;NM_183395.2:c.2156+4132C>T;NP_001073289.1:p.Pro768Leu;NP_001120933.1:p.Pro768Leu;NP_001230062.1:p.Pro766Leu;NP_004886.3:p.Pro768Leu 489800518 187819424 20110521_exome_333982_chr1_247593033 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247593037C>G;NC_000001.10:g.247593037C>T;NG_007509.2:g.18563C>G;NG_007509.2:g.18563C>T;NM_001079821.2:c.2307C>G;NM_001079821.2:c.2307C>T;NM_001127461.2:c.2307C>G;NM_001127461.2:c.2307C>T;NM_001127462.2:c.2156+4136C>G;NM_001127462.2:c.2156+4136C>T;NM_001243133.1:c.2301C>G;NM_001243133.1:c.2301C>T;NM_004895.4:c.2307C>G;NM_004895.4:c.2307C>T;NM_183395.2:c.2156+4136C>G;NM_183395.2:c.2156+4136C>T;NP_001073289.1:p.Gly769=;NP_001120933.1:p.Gly769=;NP_001230062.1:p.Gly767=;NP_004886.3:p.Gly769= 342040928 150229101 ESP2500-chr1-247593037 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247593037C>G;NC_000001.10:g.247593037C>T;NG_007509.2:g.18563C>G;NG_007509.2:g.18563C>T;NM_001079821.2:c.2307C>G;NM_001079821.2:c.2307C>T;NM_001127461.2:c.2307C>G;NM_001127461.2:c.2307C>T;NM_001127462.2:c.2156+4136C>G;NM_001127462.2:c.2156+4136C>T;NM_001243133.1:c.2301C>G;NM_001243133.1:c.2301C>T;NM_004895.4:c.2307C>G;NM_004895.4:c.2307C>T;NM_183395.2:c.2156+4136C>G;NM_183395.2:c.2156+4136C>T;NP_001073289.1:p.Gly769=;NP_001120933.1:p.Gly769=;NP_001230062.1:p.Gly767=;NP_004886.3:p.Gly769= 491238226 150229101 chr1_245659660 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247593072A>G;NG_007509.2:g.18598A>G;NM_001079821.2:c.2327+15A>G;NM_001127461.2:c.2327+15A>G;NM_001127462.2:c.2156+4171A>G;NM_001243133.1:c.2321+15A>G;NM_004895.4:c.2327+15A>G;NM_183395.2:c.2156+4171A>G 491238227 201382793 chr1_245659695 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247593099A>G;NG_007509.2:g.18625A>G;NM_001079821.2:c.2327+42A>G;NM_001127461.2:c.2327+42A>G;NM_001127462.2:c.2156+4198A>G;NM_001243133.1:c.2321+42A>G;NM_004895.4:c.2327+42A>G;NM_183395.2:c.2156+4198A>G 210793794 116154079 YRI.trio.3.2010_117438_chr1_245659722 4.60e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593099A>G;NG_007509.2:g.18625A>G;NM_001079821.2:c.2327+42A>G;NM_001127461.2:c.2327+42A>G;NM_001127462.2:c.2156+4198A>G;NM_001243133.1:c.2321+42A>G;NM_004895.4:c.2327+42A>G;NM_183395.2:c.2156+4198A>G 219005651 116154079 pilot_1_YRI_815334_chr1_245659722 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593099A>G;NG_007509.2:g.18625A>G;NM_001079821.2:c.2327+42A>G;NM_001127461.2:c.2327+42A>G;NM_001127462.2:c.2156+4198A>G;NM_001243133.1:c.2321+42A>G;NM_004895.4:c.2327+42A>G;NM_183395.2:c.2156+4198A>G 489800520 116154079 20110521_exome_333983_chr1_247593099 4.60e-03 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247593099A>G;NG_007509.2:g.18625A>G;NM_001079821.2:c.2327+42A>G;NM_001127461.2:c.2327+42A>G;NM_001127462.2:c.2156+4198A>G;NM_001243133.1:c.2321+42A>G;NM_004895.4:c.2327+42A>G;NM_183395.2:c.2156+4198A>G 491238228 116154079 chr1_245659722 4.60e-03 2012.03.02 2012.03.02 2010.07.14 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 18141900 12060377 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12256506 1.26e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 75030281 12060377 ILMN_Human_1M_rs12060377 1.26e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 76822538 12060377 AFFY_6_1M_SNP_A-8684066 1.26e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 102842949 12060377 BGI_rs12060377 1.26e-01 2008.06.04 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 112114434 12060377 NA19240_2008_12_16_266119_chr1_245659765 1.26e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 119746021 12060377 KHS1830583 1.26e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 156563901 12060377 GMI_SNP_149979016 1.26e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 165636266 12060377 NA19240_36_chr1_245659765 1.26e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 171824947 12060377 Human1M-Duov3_B_rs12060377-128_T_F_1513988456 1.26e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 199903848 12060377 BUSHMAN-chr1-245659764 1.26e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 205460436 12060377 BCM_CMT_1011-209270 1.26e-01 2010.03.16 2010.03.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 219005652 12060377 pilot_1_YRI_815335_chr1_245659765 1.26e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 230995454 12060377 pilot_1_CEU_600083_chr1_245659765 1.26e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 238590431 12060377 pilot_1_CHB+JPT_475508_chr1_245659765 1.26e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 244275147 12060377 CVDSNP55v1_A_rs12060377 1.26e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 276310519 12060377 GMI_AK_SNP_630686 1.26e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247593142A>G;NG_007509.2:g.18668A>G;NM_001079821.2:c.2327+85A>G;NM_001127461.2:c.2327+85A>G;NM_001127462.2:c.2156+4241A>G;NM_001243133.1:c.2321+85A>G;NM_004895.4:c.2327+85A>G;NM_183395.2:c.2156+4241A>G 290789436 12060377 SNP_295794_chr1_245659765 1.26e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593144C>G;NG_007509.2:g.18670C>G;NM_001079821.2:c.2327+87C>G;NM_001127461.2:c.2327+87C>G;NM_001127462.2:c.2156+4243C>G;NM_001243133.1:c.2321+87C>G;NM_004895.4:c.2327+87C>G;NM_183395.2:c.2156+4243C>G 329363789 146623139 20100804_snps_1007325_chr1_247593144 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247593187delT;NG_007509.2:g.18713delT;NM_001079821.2:c.2327+130delT;NM_001127461.2:c.2327+130delT;NM_001127462.2:c.2157-4218delT;NM_001243133.1:c.2321+130delT;NM_004895.4:c.2327+130delT;NM_183395.2:c.2157-4218delT 101918129 72300952 INDEL_GP36_2008a_2549311_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247593250C>G;NG_007509.2:g.18776C>G;NM_001079821.2:c.2327+193C>G;NM_001127461.2:c.2327+193C>G;NM_001127462.2:c.2157-4155C>G;NM_001243133.1:c.2321+193C>G;NM_004895.4:c.2327+193C>G;NM_183395.2:c.2157-4155C>G 454808138 192508376 20101123_snps_975368_chr1_247593250 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593253T>C;NG_007509.2:g.18779T>C;NM_001079821.2:c.2327+196T>C;NM_001127461.2:c.2327+196T>C;NM_001127462.2:c.2157-4152T>C;NM_001243133.1:c.2321+196T>C;NM_004895.4:c.2327+196T>C;NM_183395.2:c.2157-4152T>C 454808139 184488463 20101123_snps_975369_chr1_247593253 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593381T>C;NG_007509.2:g.18907T>C;NM_001079821.2:c.2327+324T>C;NM_001127461.2:c.2327+324T>C;NM_001127462.2:c.2157-4024T>C;NM_001243133.1:c.2321+324T>C;NM_004895.4:c.2327+324T>C;NM_183395.2:c.2157-4024T>C 454808140 189301743 20101123_snps_975370_chr1_247593381 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 9843778 6673762 chr1.NT_004536.14_1592972 2.03e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 ABI 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 41130099 6673762 hCV26646021 2.03e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 99306022 6673762 1103675395128 2.03e-01 2008.04.03 2008.04.03 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 138997929 6673762 ENSSNP197691 2.03e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 165636275 6673762 NA19240_36_chr1_245660043 2.03e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 165961949 6673762 NA07022_36_chr1_245660043 2.03e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 199903850 6673762 BUSHMAN-chr1-245660042 2.03e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 276310520 6673762 GMI_AK_SNP_630687 2.03e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 290789437 6673762 SNP_295795_chr1_245660043 2.03e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593420C>T;NG_007509.2:g.18946C>T;NM_001079821.2:c.2327+363C>T;NM_001127461.2:c.2327+363C>T;NM_001127462.2:c.2157-3985C>T;NM_001243133.1:c.2321+363C>T;NM_004895.4:c.2327+363C>T;NM_183395.2:c.2157-3985C>T 329363790 6673762 20100804_snps_1007326_chr1_247593420 2.03e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593429C>T;NG_007509.2:g.18955C>T;NM_001079821.2:c.2327+372C>T;NM_001127461.2:c.2327+372C>T;NM_001127462.2:c.2157-3976C>T;NM_001243133.1:c.2321+372C>T;NM_004895.4:c.2327+372C>T;NM_183395.2:c.2157-3976C>T 454808141 192564459 20101123_snps_975371_chr1_247593429 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593473C>T;NG_007509.2:g.18999C>T;NM_001079821.2:c.2327+416C>T;NM_001127461.2:c.2327+416C>T;NM_001127462.2:c.2157-3932C>T;NM_001243133.1:c.2321+416C>T;NM_004895.4:c.2327+416C>T;NM_183395.2:c.2157-3932C>T 329363791 150242029 20100804_snps_1007327_chr1_247593473 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 9897330 6699944 chr1.NT_004536.14_1593114 1.81e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 20490663 6699944 WGSA-200403-chr1.chr1.NT_004836.15_12256926 1.81e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ABI 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 41337156 6699944 hCV26646022 1.81e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 99306023 6699944 1103675395129 1.81e-01 2008.04.03 2008.04.03 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 112114443 6699944 NA19240_2008_12_16_266120_chr1_245660185 1.81e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 138997926 6699944 ENSSNP197692 1.81e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 165961953 6699944 NA07022_36_chr1_245660185 1.81e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 205358488 6699944 BCM_CMT_1011-158750 1.81e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 219005653 6699944 pilot_1_YRI_815336_chr1_245660185 1.81e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 230995455 6699944 pilot_1_CEU_600084_chr1_245660185 1.81e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 238590432 6699944 pilot_1_CHB+JPT_475509_chr1_245660185 1.81e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 276310521 6699944 GMI_AK_SNP_630688 1.81e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247593562G>A;NG_007509.2:g.19088G>A;NM_001079821.2:c.2327+505G>A;NM_001127461.2:c.2327+505G>A;NM_001127462.2:c.2157-3843G>A;NM_001243133.1:c.2321+505G>A;NM_004895.4:c.2327+505G>A;NM_183395.2:c.2157-3843G>A 290789438 6699944 SNP_295796_chr1_245660185 1.81e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593655C>T;NG_007509.2:g.19181C>T;NM_001079821.2:c.2327+598C>T;NM_001127461.2:c.2327+598C>T;NM_001127462.2:c.2157-3750C>T;NM_001243133.1:c.2321+598C>T;NM_004895.4:c.2327+598C>T;NM_183395.2:c.2157-3750C>T 329363792 138555997 20100804_snps_1007328_chr1_247593655 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247593671G>T;NG_007509.2:g.19197G>T;NM_001079821.2:c.2327+614G>T;NM_001127461.2:c.2327+614G>T;NM_001127462.2:c.2157-3734G>T;NM_001243133.1:c.2321+614G>T;NM_004895.4:c.2327+614G>T;NM_183395.2:c.2157-3734G>T 219005654 75550477 pilot_1_YRI_815337_chr1_245660294 9.60e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593714G>C;NG_007509.2:g.19240G>C;NM_001079821.2:c.2327+657G>C;NM_001127461.2:c.2327+657G>C;NM_001127462.2:c.2157-3691G>C;NM_001243133.1:c.2321+657G>C;NM_004895.4:c.2327+657G>C;NM_183395.2:c.2157-3691G>C 109136489 72771995 CEU.trio.12.15.2008_293423_chr1_245660337 2.52e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247593714G>C;NG_007509.2:g.19240G>C;NM_001079821.2:c.2327+657G>C;NM_001127461.2:c.2327+657G>C;NM_001127462.2:c.2157-3691G>C;NM_001243133.1:c.2321+657G>C;NM_004895.4:c.2327+657G>C;NM_183395.2:c.2157-3691G>C 199903856 72771995 BUSHMAN-chr1-245660336 2.52e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593714G>C;NG_007509.2:g.19240G>C;NM_001079821.2:c.2327+657G>C;NM_001127461.2:c.2327+657G>C;NM_001127462.2:c.2157-3691G>C;NM_001243133.1:c.2321+657G>C;NM_004895.4:c.2327+657G>C;NM_183395.2:c.2157-3691G>C 230995456 72771995 pilot_1_CEU_600085_chr1_245660337 2.52e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ABI 114548 NC_000001.10:g.247593733delG;NG_007509.2:g.19259delG;NM_001079821.2:c.2327+676delG;NM_001127461.2:c.2327+676delG;NM_001127462.2:c.2157-3672delG;NM_001243133.1:c.2321+676delG;NM_004895.4:c.2327+676delG;NM_183395.2:c.2157-3672delG 41335268 34367969 hCV26646023 3.11e-01 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247593733delG;NG_007509.2:g.19259delG;NM_001079821.2:c.2327+676delG;NM_001127461.2:c.2327+676delG;NM_001127462.2:c.2157-3672delG;NM_001243133.1:c.2321+676delG;NM_004895.4:c.2327+676delG;NM_183395.2:c.2157-3672delG 80826025 34367969 Cor12878_DIV_20070510.chr1_243919774-243919776_1 3.11e-01 2007.11.26 2007.11.26 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247593733delG;NG_007509.2:g.19259delG;NM_001079821.2:c.2327+676delG;NM_001127461.2:c.2327+676delG;NM_001127462.2:c.2157-3672delG;NM_001243133.1:c.2321+676delG;NM_004895.4:c.2327+676delG;NM_183395.2:c.2157-3672delG 100200863 34367969 INDEL_GP36_2008a_915870_0 3.11e-01 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247593733delG;NG_007509.2:g.19259delG;NM_001079821.2:c.2327+676delG;NM_001127461.2:c.2327+676delG;NM_001127462.2:c.2157-3672delG;NM_001243133.1:c.2321+676delG;NM_004895.4:c.2327+676delG;NM_183395.2:c.2157-3672delG 100200867 34367969 INDEL_GP36_2008a_915870_1 3.11e-01 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593733delG;NG_007509.2:g.19259delG;NM_001079821.2:c.2327+676delG;NM_001127461.2:c.2327+676delG;NM_001127462.2:c.2157-3672delG;NM_001243133.1:c.2321+676delG;NM_004895.4:c.2327+676delG;NM_183395.2:c.2157-3672delG 499190858 34367969 20110316_indels_chr1_247593732_247593732 3.11e-01 2012.03.19 2012.03.19 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247593734_247593735delGC;NG_007509.2:g.19260_19261delGC;NM_001079821.2:c.2327+677_2327+678delGC;NM_001127461.2:c.2327+677_2327+678delGC;NM_001127462.2:c.2157-3671_2157-3670delGC;NM_001243133.1:c.2321+677_2321+678delGC;NM_004895.4:c.2327+677_2327+678delGC;NM_183395.2:c.2157-3671_2157-3670delGC 287692040 138124144 GMI_NA10851_INDEL_24668 2010.12.18 2010.12.20 2011.05.09 2012.11.28 137 GMI 114548 NC_000001.10:g.247593734_247593735delGC;NG_007509.2:g.19260_19261delGC;NM_001079821.2:c.2327+677_2327+678delGC;NM_001127461.2:c.2327+677_2327+678delGC;NM_001127462.2:c.2157-3671_2157-3670delGC;NM_001243133.1:c.2321+677_2321+678delGC;NM_004895.4:c.2327+677_2327+678delGC;NM_183395.2:c.2157-3671_2157-3670delGC 288119535 138124144 GMI_AK_INDEL_90633 2010.12.21 2011.12.23 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593734_247593735delGC;NG_007509.2:g.19260_19261delGC;NM_001079821.2:c.2327+677_2327+678delGC;NM_001127461.2:c.2327+677_2327+678delGC;NM_001127462.2:c.2157-3671_2157-3670delGC;NM_001243133.1:c.2321+677_2321+678delGC;NM_004895.4:c.2327+677_2327+678delGC;NM_183395.2:c.2157-3671_2157-3670delGC 326158603 138124144 JPTCHB_chr1_245660356_indel 2011.03.11 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593735_247593736delCA;NG_007509.2:g.19261_19262delCA;NM_001079821.2:c.2327+678_2327+679delCA;NM_001127461.2:c.2327+678_2327+679delCA;NM_001127462.2:c.2157-3670_2157-3669delCA;NM_001243133.1:c.2321+678_2321+679delCA;NM_004895.4:c.2327+678_2327+679delCA;NM_183395.2:c.2157-3670_2157-3669delCA 499190862 200006024 20110316_indels_chr1_247593734_247593735 3.11e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 ABI 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 41099720 34862544 hCV26646024 3.09e-01 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 80826022 34862544 Cor12878_DIV_20070510.chr1_243919776-243919778_1 3.09e-01 2007.11.26 2007.11.26 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 101702038 34862544 INDEL_GP36_2008a_915871_0 3.09e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 101702040 34862544 INDEL_GP36_2008a_915871_1 3.09e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 101702043 34862544 INDEL_GP36_2008a_915871_2 3.09e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247593736A>C;NC_000001.10:g.247593736A>G;NG_007509.2:g.19262A>C;NG_007509.2:g.19262A>G;NM_001079821.2:c.2327+679A>C;NM_001079821.2:c.2327+679A>G;NM_001127461.2:c.2327+679A>C;NM_001127461.2:c.2327+679A>G;NM_001127462.2:c.2157-3669A>C;NM_001127462.2:c.2157-3669A>G;NM_001243133.1:c.2321+679A>C;NM_001243133.1:c.2321+679A>G;NM_004895.4:c.2327+679A>C;NM_004895.4:c.2327+679A>G;NM_183395.2:c.2157-3669A>C;NM_183395.2:c.2157-3669A>G 276310522 200927356 GMI_AK_SNP_630689 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593736A>C;NC_000001.10:g.247593736A>G;NG_007509.2:g.19262A>C;NG_007509.2:g.19262A>G;NM_001079821.2:c.2327+679A>C;NM_001079821.2:c.2327+679A>G;NM_001127461.2:c.2327+679A>C;NM_001127461.2:c.2327+679A>G;NM_001127462.2:c.2157-3669A>C;NM_001127462.2:c.2157-3669A>G;NM_001243133.1:c.2321+679A>C;NM_001243133.1:c.2321+679A>G;NM_004895.4:c.2327+679A>C;NM_004895.4:c.2327+679A>G;NM_183395.2:c.2157-3669A>C;NM_183395.2:c.2157-3669A>G 482298403 200927356 HumanOmni2.5-4v1_B_SNP1-245660359-0_B_R_1650125505 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593736A>C;NC_000001.10:g.247593736A>G;NG_007509.2:g.19262A>C;NG_007509.2:g.19262A>G;NM_001079821.2:c.2327+679A>C;NM_001079821.2:c.2327+679A>G;NM_001127461.2:c.2327+679A>C;NM_001127461.2:c.2327+679A>G;NM_001127462.2:c.2157-3669A>C;NM_001127462.2:c.2157-3669A>G;NM_001243133.1:c.2321+679A>C;NM_001243133.1:c.2321+679A>G;NM_004895.4:c.2327+679A>C;NM_004895.4:c.2327+679A>G;NM_183395.2:c.2157-3669A>C;NM_183395.2:c.2157-3669A>G 482651903 200927356 HumanOmni2.5-4v1_D_kgp22749781-0_B_R_1860472397 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593736delA;NG_007509.2:g.19262delA;NM_001079821.2:c.2327+679delA;NM_001127461.2:c.2327+679delA;NM_001127462.2:c.2157-3669delA;NM_001243133.1:c.2321+679delA;NM_004895.4:c.2327+679delA;NM_183395.2:c.2157-3669delA 499190866 34862544 20110316_indels_chr1_247593735_247593735 3.09e-01 2012.03.19 2012.03.19 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593795_247593796insC;NG_007509.2:g.19321_19322insC;NM_001079821.2:c.2327+738_2327+739insC;NM_001127461.2:c.2327+738_2327+739insC;NM_001127462.2:c.2157-3610_2157-3609insC;NM_001243133.1:c.2321+738_2321+739insC;NM_004895.4:c.2327+738_2327+739insC;NM_183395.2:c.2157-3610_2157-3609insC 326215332 145192400 YRI_chr1_245660418_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247593888G>A;NG_007509.2:g.19414G>A;NM_001079821.2:c.2327+831G>A;NM_001127461.2:c.2327+831G>A;NM_001127462.2:c.2157-3517G>A;NM_001243133.1:c.2321+831G>A;NM_004895.4:c.2327+831G>A;NM_183395.2:c.2157-3517G>A 219005655 114460781 pilot_1_YRI_815338_chr1_245660511 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247593896G>C;NG_007509.2:g.19422G>C;NM_001079821.2:c.2327+839G>C;NM_001127461.2:c.2327+839G>C;NM_001127462.2:c.2157-3509G>C;NM_001243133.1:c.2321+839G>C;NM_004895.4:c.2327+839G>C;NM_183395.2:c.2157-3509G>C 329363793 148844241 20100804_snps_1007329_chr1_247593896 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247593932T>C;NG_007509.2:g.19458T>C;NM_001079821.2:c.2327+875T>C;NM_001127461.2:c.2327+875T>C;NM_001127462.2:c.2157-3473T>C;NM_001243133.1:c.2321+875T>C;NM_004895.4:c.2327+875T>C;NM_183395.2:c.2157-3473T>C 454808142 184454342 20101123_snps_975372_chr1_247593932 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593964C>A;NG_007509.2:g.19490C>A;NM_001079821.2:c.2327+907C>A;NM_001127461.2:c.2327+907C>A;NM_001127462.2:c.2157-3441C>A;NM_001243133.1:c.2321+907C>A;NM_004895.4:c.2327+907C>A;NM_183395.2:c.2157-3441C>A 454808143 189211799 20101123_snps_975373_chr1_247593964 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593965A>G;NG_007509.2:g.19491A>G;NM_001079821.2:c.2327+908A>G;NM_001127461.2:c.2327+908A>G;NM_001127462.2:c.2157-3440A>G;NM_001243133.1:c.2321+908A>G;NM_004895.4:c.2327+908A>G;NM_183395.2:c.2157-3440A>G 454808144 181287974 20101123_snps_975374_chr1_247593965 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 109136493 72771996 CEU.trio.12.15.2008_293424_chr1_245660601 7.55e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 167597192 72771996 NA20431_36_chr1_245660601 7.55e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 219005658 72771996 pilot_1_YRI_815341_chr1_245660601 7.55e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 230995457 72771996 pilot_1_CEU_600086_chr1_245660601 7.55e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 480517260 72771996 HumanOmni2.5-4v1_D_kgp1416353-0_B_R_1817485157 7.55e-02 2012.01.31 2012.01.31 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247593978G>A;NG_007509.2:g.19504G>A;NM_001079821.2:c.2327+921G>A;NM_001127461.2:c.2327+921G>A;NM_001127462.2:c.2157-3427G>A;NM_001243133.1:c.2321+921G>A;NM_004895.4:c.2327+921G>A;NM_183395.2:c.2157-3427G>A 482298406 72771996 HumanOmni2.5-4v1_B_SNP1-245660601-0_B_R_1616692982 7.55e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594035T>C;NG_007509.2:g.19561T>C;NM_001079821.2:c.2327+978T>C;NM_001127461.2:c.2327+978T>C;NM_001127462.2:c.2157-3370T>C;NM_001243133.1:c.2321+978T>C;NM_004895.4:c.2327+978T>C;NM_183395.2:c.2157-3370T>C 329363794 143463398 20100804_snps_1007330_chr1_247594035 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 114548 NC_000001.10:g.247594075_247594076insT;NG_007509.2:g.19601_19602insT;NM_001079821.2:c.2327+1018_2327+1019insT;NM_001127461.2:c.2327+1018_2327+1019insT;NM_001127462.2:c.2157-3330_2157-3329insT;NM_001243133.1:c.2321+1018_2321+1019insT;NM_004895.4:c.2327+1018_2327+1019insT;NM_183395.2:c.2157-3330_2157-3329insT 41089253 34058758 hCV33568131 2005.07.17 2005.07.17 2006.03.13 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247594075_247594076insT;NG_007509.2:g.19601_19602insT;NM_001079821.2:c.2327+1018_2327+1019insT;NM_001127461.2:c.2327+1018_2327+1019insT;NM_001127462.2:c.2157-3330_2157-3329insT;NM_001243133.1:c.2321+1018_2321+1019insT;NM_004895.4:c.2327+1018_2327+1019insT;NM_183395.2:c.2157-3330_2157-3329insT 193163328 34058758 BUSHMAN-chr1-245660698-245660698 2010.02.16 2010.02.16 2006.03.13 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247594076_247594077insT;NG_007509.2:g.19602_19603insT;NM_001079821.2:c.2327+1019_2327+1020insT;NM_001127461.2:c.2327+1019_2327+1020insT;NM_001127462.2:c.2157-3329_2157-3328insT;NM_001243133.1:c.2321+1019_2321+1020insT;NM_004895.4:c.2327+1019_2327+1020insT;NM_183395.2:c.2157-3329_2157-3328insT 95261586 71879773 1104685304930 2008.03.21 2008.12.02 2009.02.13 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247594076_247594077insT;NG_007509.2:g.19602_19603insT;NM_001079821.2:c.2327+1019_2327+1020insT;NM_001127461.2:c.2327+1019_2327+1020insT;NM_001127462.2:c.2157-3329_2157-3328insT;NM_001243133.1:c.2321+1019_2321+1020insT;NM_004895.4:c.2327+1019_2327+1020insT;NM_183395.2:c.2157-3329_2157-3328insT 100228480 71879773 INDEL_GP36_2008a_1737973_0 2008.05.16 2008.05.16 2009.02.13 2012.11.28 137 GMI 114548 NC_000001.10:g.247594076delT;NG_007509.2:g.19602delT;NM_001079821.2:c.2327+1019delT;NM_001127461.2:c.2327+1019delT;NM_001127462.2:c.2157-3329delT;NM_001243133.1:c.2321+1019delT;NM_004895.4:c.2327+1019delT;NM_183395.2:c.2157-3329delT 288119537 200791034 GMI_AK_INDEL_90634 2010.12.21 2011.12.23 2012.05.04 2012.05.04 137 PJP 114548 NC_000001.10:g.247594076_247594077insT;NG_007509.2:g.19602_19603insT;NM_001079821.2:c.2327+1019_2327+1020insT;NM_001127461.2:c.2327+1019_2327+1020insT;NM_001127462.2:c.2157-3329_2157-3328insT;NM_001243133.1:c.2321+1019_2321+1020insT;NM_004895.4:c.2327+1019_2327+1020insT;NM_183395.2:c.2157-3329_2157-3328insT 294636724 71879773 DIP_74428_chr1_245660705 2011.01.21 2011.01.21 2009.02.13 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594087T>C;NG_007509.2:g.19613T>C;NM_001079821.2:c.2327+1030T>C;NM_001127461.2:c.2327+1030T>C;NM_001127462.2:c.2157-3318T>C;NM_001243133.1:c.2321+1030T>C;NM_004895.4:c.2327+1030T>C;NM_183395.2:c.2157-3318T>C 138194245 78785146 ENSSNP11747547 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247594088delT;NC_000001.10:g.247594088delTinsTT;NG_007509.2:g.19614delT;NG_007509.2:g.19614delTinsTT;NM_001079821.2:c.2327+1031delT;NM_001079821.2:c.2327+1031delTinsTT;NM_001127461.2:c.2327+1031delT;NM_001127461.2:c.2327+1031delTinsTT;NM_001127462.2:c.2157-3317delT;NM_001127462.2:c.2157-3317delTinsTT;NM_001243133.1:c.2321+1031delT;NM_001243133.1:c.2321+1031delTinsTT;NM_004895.4:c.2327+1031delT;NM_004895.4:c.2327+1031delTinsTT;NM_183395.2:c.2157-3317delT;NM_183395.2:c.2157-3317delTinsTT 100739583 67977566 INDEL_GP36_2008a_2553063_0 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247594088delT;NC_000001.10:g.247594088delTinsTT;NG_007509.2:g.19614delT;NG_007509.2:g.19614delTinsTT;NM_001079821.2:c.2327+1031delT;NM_001079821.2:c.2327+1031delTinsTT;NM_001127461.2:c.2327+1031delT;NM_001127461.2:c.2327+1031delTinsTT;NM_001127462.2:c.2157-3317delT;NM_001127462.2:c.2157-3317delTinsTT;NM_001243133.1:c.2321+1031delT;NM_001243133.1:c.2321+1031delTinsTT;NM_004895.4:c.2327+1031delT;NM_004895.4:c.2327+1031delTinsTT;NM_183395.2:c.2157-3317delT;NM_183395.2:c.2157-3317delTinsTT 100739588 67977566 INDEL_GP36_2008a_2553063_1 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247594088delT;NC_000001.10:g.247594088delTinsTT;NG_007509.2:g.19614delT;NG_007509.2:g.19614delTinsTT;NM_001079821.2:c.2327+1031delT;NM_001079821.2:c.2327+1031delTinsTT;NM_001127461.2:c.2327+1031delT;NM_001127461.2:c.2327+1031delTinsTT;NM_001127462.2:c.2157-3317delT;NM_001127462.2:c.2157-3317delTinsTT;NM_001243133.1:c.2321+1031delT;NM_001243133.1:c.2321+1031delTinsTT;NM_004895.4:c.2327+1031delT;NM_004895.4:c.2327+1031delTinsTT;NM_183395.2:c.2157-3317delT;NM_183395.2:c.2157-3317delTinsTT 100868145 67977566 INDEL_GP36_2008a_955967_0 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 ILLUMINA-UK 114548 NC_000001.10:g.247594154G>A;NG_007509.2:g.19680G>A;NM_001079821.2:c.2327+1097G>A;NM_001127461.2:c.2327+1097G>A;NM_001127462.2:c.2157-3251G>A;NM_001243133.1:c.2321+1097G>A;NM_004895.4:c.2327+1097G>A;NM_183395.2:c.2157-3251G>A 119287742 79322069 NA18507_000265596_NCBI36.1_chr1_245660777 6.40e-03 2009.01.22 2009.01.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594154G>A;NG_007509.2:g.19680G>A;NM_001079821.2:c.2327+1097G>A;NM_001127461.2:c.2327+1097G>A;NM_001127462.2:c.2157-3251G>A;NM_001243133.1:c.2321+1097G>A;NM_004895.4:c.2327+1097G>A;NM_183395.2:c.2157-3251G>A 329363795 79322069 20100804_snps_1007331_chr1_247594154 6.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 88051261 61841184 JWB-2759465 1.29e-01 2008.02.27 2008.02.27 2008.03.24 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 138194246 61841184 ENSSNP11747548 1.29e-01 2009.05.17 2009.05.17 2008.03.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 156563907 61841184 GMI_SNP_71706513 1.29e-01 2009.06.25 2009.06.25 2008.03.24 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 165636284 61841184 NA19240_36_chr1_245660782 1.29e-01 2009.09.30 2009.09.30 2008.03.24 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 199903859 61841184 BUSHMAN-chr1-245660781 1.29e-01 2010.03.07 2010.03.07 2008.03.24 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 205488860 61841184 BCM_CMT_1011-223529 1.29e-01 2010.03.16 2010.03.16 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 230995459 61841184 pilot_1_CEU_600088_chr1_245660782 1.29e-01 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 BL 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 253948981 61841184 SNP242660_1_245660782 1.29e-01 2010.08.19 2010.08.19 2008.03.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247594159C>A;NG_007509.2:g.19685C>A;NM_001079821.2:c.2327+1102C>A;NM_001127461.2:c.2327+1102C>A;NM_001127462.2:c.2157-3246C>A;NM_001243133.1:c.2321+1102C>A;NM_004895.4:c.2327+1102C>A;NM_183395.2:c.2157-3246C>A 276310523 61841184 GMI_AK_SNP_630690 1.29e-01 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 HGSV 114548 NC_000001.10:g.247594170G>A;NG_007509.2:g.19696G>A;NM_001079821.2:c.2327+1113G>A;NM_001127461.2:c.2327+1113G>A;NM_001127462.2:c.2157-3235G>A;NM_001243133.1:c.2321+1113G>A;NM_004895.4:c.2327+1113G>A;NM_183395.2:c.2157-3235G>A 81594318 59415151 Cor18956_SNV_20070510.chr1_243920211 2007.11.30 2007.11.30 2007.12.15 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247594379G>C;NG_007509.2:g.19905G>C;NM_001079821.2:c.2327+1322G>C;NM_001127461.2:c.2327+1322G>C;NM_001127462.2:c.2157-3026G>C;NM_001243133.1:c.2321+1322G>C;NM_004895.4:c.2327+1322G>C;NM_183395.2:c.2157-3026G>C 454808145 186528571 20101123_snps_975375_chr1_247594379 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247594405G>A;NG_007509.2:g.19931G>A;NM_001079821.2:c.2327+1348G>A;NM_001127461.2:c.2327+1348G>A;NM_001127462.2:c.2157-3000G>A;NM_001243133.1:c.2321+1348G>A;NM_004895.4:c.2327+1348G>A;NM_183395.2:c.2157-3000G>A 329363796 143390227 20100804_snps_1007332_chr1_247594405 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594416G>A;NG_007509.2:g.19942G>A;NM_001079821.2:c.2327+1359G>A;NM_001127461.2:c.2327+1359G>A;NM_001127462.2:c.2157-2989G>A;NM_001243133.1:c.2321+1359G>A;NM_004895.4:c.2327+1359G>A;NM_183395.2:c.2157-2989G>A 454808146 189866429 20101123_snps_975376_chr1_247594416 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247594440C>T;NG_007509.2:g.19966C>T;NM_001079821.2:c.2327+1383C>T;NM_001127461.2:c.2327+1383C>T;NM_001127462.2:c.2157-2965C>T;NM_001243133.1:c.2321+1383C>T;NM_004895.4:c.2327+1383C>T;NM_183395.2:c.2157-2965C>T 329363797 147219646 20100804_snps_1007333_chr1_247594440 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594459C>G;NG_007509.2:g.19985C>G;NM_001079821.2:c.2327+1402C>G;NM_001127461.2:c.2327+1402C>G;NM_001127462.2:c.2157-2946C>G;NM_001243133.1:c.2321+1402C>G;NM_004895.4:c.2327+1402C>G;NM_183395.2:c.2157-2946C>G 454808147 180727122 20101123_snps_975377_chr1_247594459 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247594468A>T;NG_007509.2:g.19994A>T;NM_001079821.2:c.2327+1411A>T;NM_001127461.2:c.2327+1411A>T;NM_001127462.2:c.2157-2937A>T;NM_001243133.1:c.2321+1411A>T;NM_004895.4:c.2327+1411A>T;NM_183395.2:c.2157-2937A>T 41178363 34706929 hCV33568132 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 114548 NC_000001.10:g.247594498A>G;NG_007509.2:g.20024A>G;NM_001079821.2:c.2327+1441A>G;NM_001127461.2:c.2327+1441A>G;NM_001127462.2:c.2157-2907A>G;NM_001243133.1:c.2321+1441A>G;NM_004895.4:c.2327+1441A>G;NM_183395.2:c.2157-2907A>G 39682559 35824115 hCV33568133 2005.07.16 2005.07.17 2006.03.15 2011.07.08 137 ABI 114548 NC_000001.10:g.247594503A>T;NG_007509.2:g.20029A>T;NM_001079821.2:c.2327+1446A>T;NM_001127461.2:c.2327+1446A>T;NM_001127462.2:c.2157-2902A>T;NM_001243133.1:c.2321+1446A>T;NM_004895.4:c.2327+1446A>T;NM_183395.2:c.2157-2902A>T 41306469 34667392 hCV33568134 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247594504A>G;NG_007509.2:g.20030A>G;NM_001079821.2:c.2327+1447A>G;NM_001127461.2:c.2327+1447A>G;NM_001127462.2:c.2157-2901A>G;NM_001243133.1:c.2321+1447A>G;NM_004895.4:c.2327+1447A>G;NM_183395.2:c.2157-2901A>G 454808148 186153969 20101123_snps_975378_chr1_247594504 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 18144956 12062001 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12257878 1.90e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 88051262 12062001 JWB-0217793 1.90e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247594514_247594515insTA;NC_000001.10:g.247594514_247594515insTAA;NG_007509.2:g.20040_20041insTA;NG_007509.2:g.20040_20041insTAA;NM_001079821.2:c.2327+1457_2327+1458insTA;NM_001079821.2:c.2327+1457_2327+1458insTAA;NM_001127461.2:c.2327+1457_2327+1458insTA;NM_001127461.2:c.2327+1457_2327+1458insTAA;NM_001127462.2:c.2157-2891_2157-2890insTA;NM_001127462.2:c.2157-2891_2157-2890insTAA;NM_001243133.1:c.2321+1457_2321+1458insTA;NM_001243133.1:c.2321+1457_2321+1458insTAA;NM_004895.4:c.2327+1457_2327+1458insTA;NM_004895.4:c.2327+1457_2327+1458insTAA;NM_183395.2:c.2157-2891_2157-2890insTA;NM_183395.2:c.2157-2891_2157-2890insTAA 99684709 66467558 INDEL_GP36_2007a_899467_0 2008.05.05 2008.05.05 2009.02.03 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247594514_247594515insTA;NC_000001.10:g.247594514_247594515insTAA;NG_007509.2:g.20040_20041insTA;NG_007509.2:g.20040_20041insTAA;NM_001079821.2:c.2327+1457_2327+1458insTA;NM_001079821.2:c.2327+1457_2327+1458insTAA;NM_001127461.2:c.2327+1457_2327+1458insTA;NM_001127461.2:c.2327+1457_2327+1458insTAA;NM_001127462.2:c.2157-2891_2157-2890insTA;NM_001127462.2:c.2157-2891_2157-2890insTAA;NM_001243133.1:c.2321+1457_2321+1458insTA;NM_001243133.1:c.2321+1457_2321+1458insTAA;NM_004895.4:c.2327+1457_2327+1458insTA;NM_004895.4:c.2327+1457_2327+1458insTAA;NM_183395.2:c.2157-2891_2157-2890insTA;NM_183395.2:c.2157-2891_2157-2890insTAA 99718049 66467558 INDEL_GP36_2007a_905181_0 2008.05.06 2008.05.06 2009.02.03 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247594514_247594515insTA;NC_000001.10:g.247594514_247594515insTAA;NG_007509.2:g.20040_20041insTA;NG_007509.2:g.20040_20041insTAA;NM_001079821.2:c.2327+1457_2327+1458insTA;NM_001079821.2:c.2327+1457_2327+1458insTAA;NM_001127461.2:c.2327+1457_2327+1458insTA;NM_001127461.2:c.2327+1457_2327+1458insTAA;NM_001127462.2:c.2157-2891_2157-2890insTA;NM_001127462.2:c.2157-2891_2157-2890insTAA;NM_001243133.1:c.2321+1457_2321+1458insTA;NM_001243133.1:c.2321+1457_2321+1458insTAA;NM_004895.4:c.2327+1457_2327+1458insTA;NM_004895.4:c.2327+1457_2327+1458insTAA;NM_183395.2:c.2157-2891_2157-2890insTA;NM_183395.2:c.2157-2891_2157-2890insTAA 101500403 66467558 INDEL_GP36_2008a_899467_1 2008.05.17 2008.05.17 2009.02.03 2012.05.16 137 1000GENOMES 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 112114459 12062001 NA19240_2008_12_16_266122_chr1_245661137 1.90e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 138194247 12062001 ENSSNP11747549 1.90e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 165636291 12062001 NA19240_36_chr1_245661137 1.90e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 205412552 12062001 BCM_CMT_1011-185245 1.90e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 219005659 12062001 pilot_1_YRI_815342_chr1_245661137 1.90e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 230995460 12062001 pilot_1_CEU_600089_chr1_245661137 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 238590436 12062001 pilot_1_CHB+JPT_475513_chr1_245661137 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 253948984 12062001 SNP242661_1_245661137 1.90e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247594514A>T;NG_007509.2:g.20040A>T;NM_001079821.2:c.2327+1457A>T;NM_001127461.2:c.2327+1457A>T;NM_001127462.2:c.2157-2891A>T;NM_001243133.1:c.2321+1457A>T;NM_004895.4:c.2327+1457A>T;NM_183395.2:c.2157-2891A>T 276310524 12062001 GMI_AK_SNP_630691 1.90e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247594515_247594516insT;NG_007509.2:g.20041_20042insT;NM_001079821.2:c.2327+1458_2327+1459insT;NM_001127461.2:c.2327+1458_2327+1459insT;NM_001127462.2:c.2157-2890_2157-2889insT;NM_001243133.1:c.2321+1458_2321+1459insT;NM_004895.4:c.2327+1458_2327+1459insT;NM_183395.2:c.2157-2890_2157-2889insT 99635461 66940544 INDEL_GP36_2007a_899468_0 2008.05.05 2008.05.05 2009.02.05 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247594515_247594516insT;NG_007509.2:g.20041_20042insT;NM_001079821.2:c.2327+1458_2327+1459insT;NM_001127461.2:c.2327+1458_2327+1459insT;NM_001127462.2:c.2157-2890_2157-2889insT;NM_001243133.1:c.2321+1458_2321+1459insT;NM_004895.4:c.2327+1458_2327+1459insT;NM_183395.2:c.2157-2890_2157-2889insT 100939358 66940544 INDEL_GP36_2008a_899468_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247594534C>T;NG_007509.2:g.20060C>T;NM_001079821.2:c.2327+1477C>T;NM_001127461.2:c.2327+1477C>T;NM_001127462.2:c.2157-2871C>T;NM_001243133.1:c.2321+1477C>T;NM_004895.4:c.2327+1477C>T;NM_183395.2:c.2157-2871C>T 329363798 138919300 20100804_snps_1007334_chr1_247594534 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594538C>A;NG_007509.2:g.20064C>A;NM_001079821.2:c.2327+1481C>A;NM_001127461.2:c.2327+1481C>A;NM_001127462.2:c.2157-2867C>A;NM_001243133.1:c.2321+1481C>A;NM_004895.4:c.2327+1481C>A;NM_183395.2:c.2157-2867C>A 219005660 114162782 pilot_1_YRI_815343_chr1_245661161 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 114548 NC_000001.10:g.247594548G>T;NG_007509.2:g.20074G>T;NM_001079821.2:c.2327+1491G>T;NM_001127461.2:c.2327+1491G>T;NM_001127462.2:c.2157-2857G>T;NM_001243133.1:c.2321+1491G>T;NM_004895.4:c.2327+1491G>T;NM_183395.2:c.2157-2857G>T 41254472 34735549 hCV33568135 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247594556C>T;NG_007509.2:g.20082C>T;NM_001079821.2:c.2327+1499C>T;NM_001127461.2:c.2327+1499C>T;NM_001127462.2:c.2157-2849C>T;NM_001243133.1:c.2321+1499C>T;NM_004895.4:c.2327+1499C>T;NM_183395.2:c.2157-2849C>T 230995461 79490472 pilot_1_CEU_600090_chr1_245661179 2.52e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247594580C>T;NG_007509.2:g.20106C>T;NM_001079821.2:c.2327+1523C>T;NM_001127461.2:c.2327+1523C>T;NM_001127462.2:c.2157-2825C>T;NM_001243133.1:c.2321+1523C>T;NM_004895.4:c.2327+1523C>T;NM_183395.2:c.2157-2825C>T 454808149 190789905 20101123_snps_975379_chr1_247594580 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 114548 NC_000001.10:g.247594581C>T;NG_007509.2:g.20107C>T;NM_001079821.2:c.2327+1524C>T;NM_001127461.2:c.2327+1524C>T;NM_001127462.2:c.2157-2824C>T;NM_001243133.1:c.2321+1524C>T;NM_004895.4:c.2327+1524C>T;NM_183395.2:c.2157-2824C>T 119287743 74154639 NA18507_000265597_NCBI36.1_chr1_245661204 3.20e-03 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594581C>T;NG_007509.2:g.20107C>T;NM_001079821.2:c.2327+1524C>T;NM_001127461.2:c.2327+1524C>T;NM_001127462.2:c.2157-2824C>T;NM_001243133.1:c.2321+1524C>T;NM_004895.4:c.2327+1524C>T;NM_183395.2:c.2157-2824C>T 219005661 74154639 pilot_1_YRI_815344_chr1_245661204 3.20e-03 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 18117991 10925017 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12258140 3.28e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 18205673 10925017 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12258140 3.28e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 44038382 10925017 hCV26646025 3.28e-01 2005.07.18 2005.07.18 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 88051265 10925017 JWB-0217794 3.28e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 109136497 10925017 CEU.trio.12.15.2008_293425_chr1_245661399 3.28e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 167597194 10925017 NA20431_36_chr1_245661399 3.28e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 219005662 10925017 pilot_1_YRI_815345_chr1_245661399 3.28e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 230995463 10925017 pilot_1_CEU_600092_chr1_245661399 3.28e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 238590437 10925017 pilot_1_CHB+JPT_475514_chr1_245661399 3.28e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 253948987 10925017 SNP242662_1_245661399 3.28e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 276310525 10925017 GMI_AK_SNP_630692 3.28e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247594776G>A;NG_007509.2:g.20302G>A;NM_001079821.2:c.2327+1719G>A;NM_001127461.2:c.2327+1719G>A;NM_001127462.2:c.2157-2629G>A;NM_001243133.1:c.2321+1719G>A;NM_004895.4:c.2327+1719G>A;NM_183395.2:c.2157-2629G>A 290789439 10925017 SNP_295797_chr1_245661399 3.28e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594793C>T;NG_007509.2:g.20319C>T;NM_001079821.2:c.2327+1736C>T;NM_001127461.2:c.2327+1736C>T;NM_001127462.2:c.2157-2612C>T;NM_001243133.1:c.2321+1736C>T;NM_004895.4:c.2327+1736C>T;NM_183395.2:c.2157-2612C>T 329363799 142839413 20100804_snps_1007335_chr1_247594793 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594796G>C;NG_007509.2:g.20322G>C;NM_001079821.2:c.2327+1739G>C;NM_001127461.2:c.2327+1739G>C;NM_001127462.2:c.2157-2609G>C;NM_001243133.1:c.2321+1739G>C;NM_004895.4:c.2327+1739G>C;NM_183395.2:c.2157-2609G>C 329363800 150766290 20100804_snps_1007336_chr1_247594796 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594853C>T;NG_007509.2:g.20379C>T;NM_001079821.2:c.2327+1796C>T;NM_001127461.2:c.2327+1796C>T;NM_001127462.2:c.2157-2552C>T;NM_001243133.1:c.2321+1796C>T;NM_004895.4:c.2327+1796C>T;NM_183395.2:c.2157-2552C>T 329363801 139813959 20100804_snps_1007337_chr1_247594853 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247594871C>T;NG_007509.2:g.20397C>T;NM_001079821.2:c.2327+1814C>T;NM_001127461.2:c.2327+1814C>T;NM_001127462.2:c.2157-2534C>T;NM_001243133.1:c.2321+1814C>T;NM_004895.4:c.2327+1814C>T;NM_183395.2:c.2157-2534C>T 18264907 12128192 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12258235 2.20e-02 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594871C>T;NG_007509.2:g.20397C>T;NM_001079821.2:c.2327+1814C>T;NM_001127461.2:c.2327+1814C>T;NM_001127462.2:c.2157-2534C>T;NM_001243133.1:c.2321+1814C>T;NM_004895.4:c.2327+1814C>T;NM_183395.2:c.2157-2534C>T 230995464 12128192 pilot_1_CEU_600093_chr1_245661494 2.20e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594877T>C;NG_007509.2:g.20403T>C;NM_001079821.2:c.2327+1820T>C;NM_001127461.2:c.2327+1820T>C;NM_001127462.2:c.2157-2528T>C;NM_001243133.1:c.2321+1820T>C;NM_004895.4:c.2327+1820T>C;NM_183395.2:c.2157-2528T>C 329363802 149381949 20100804_snps_1007338_chr1_247594877 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 3123604 2185572 TSC1232986 1.37e-02 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 19830670 2185572 CSHL-HuFF-200402.chr1.NT_004836.15_12258251 1.37e-02 2004.02.21 2004.03.04 2001.06.15 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 20449449 2185572 WGSA-200403-chr1.chr1.NT_004836.15_12258251 1.37e-02 2004.03.18 2004.03.18 2001.06.15 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 23207015 2185572 afd4265699 1.37e-02 2004.08.20 2004.08.20 2001.06.15 2012.11.28 137 ABI 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 44032869 2185572 hCV16154868 1.37e-02 2005.07.18 2005.07.18 2001.06.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 83504032 2185572 Cor19240_SNV_20070510.chr1_243920928 1.37e-02 2007.12.05 2007.12.05 2001.06.15 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 88051268 2185572 JWB-0217795 1.37e-02 2008.02.27 2008.02.27 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 98020141 2185572 1103675395135 1.37e-02 2008.03.30 2008.03.30 2001.06.15 2012.11.28 137 BGI 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 106647973 2185572 BGI_rs2185572 1.37e-02 2008.09.17 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 109136501 2185572 CEU.trio.12.15.2008_293426_chr1_245661510 1.37e-02 2008.12.16 2008.12.16 2001.06.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 112114464 2185572 NA19240_2008_12_16_266123_chr1_245661510 1.37e-02 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 119287745 2185572 NA18507_000265598_NCBI36.1_chr1_245661510 1.37e-02 2009.01.22 2009.01.22 2001.06.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 138194248 2185572 ENSSNP7193828 1.37e-02 2009.05.17 2009.05.17 2001.06.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 143978951 2185572 ENSSNP197693 1.37e-02 2009.06.06 2009.10.17 2001.06.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 156563914 2185572 GMI_SNP_36290694 1.37e-02 2009.06.25 2009.06.25 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 165636302 2185572 NA19240_36_chr1_245661510 1.37e-02 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 165961956 2185572 NA07022_36_chr1_245661510 1.37e-02 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 167597196 2185572 NA20431_36_chr1_245661510 1.37e-02 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 199903864 2185572 BUSHMAN-chr1-245661509 1.37e-02 2010.03.07 2010.03.07 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 205237396 2185572 BCM_CMT_1011-98438 1.37e-02 2010.03.15 2010.03.15 2001.06.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 219005663 2185572 pilot_1_YRI_815346_chr1_245661510 1.37e-02 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 230995465 2185572 pilot_1_CEU_600094_chr1_245661510 1.37e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 238590438 2185572 pilot_1_CHB+JPT_475515_chr1_245661510 1.37e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 253948990 2185572 SNP242663_1_245661510 1.37e-02 2010.08.19 2010.08.19 2001.06.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 276310526 2185572 GMI_AK_SNP_630693 1.37e-02 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 114548 NC_000001.10:g.247594887T>C;NG_007509.2:g.20413T>C;NM_001079821.2:c.2327+1830T>C;NM_001127461.2:c.2327+1830T>C;NM_001127462.2:c.2157-2518T>C;NM_001243133.1:c.2321+1830T>C;NM_004895.4:c.2327+1830T>C;NM_183395.2:c.2157-2518T>C 290789440 2185572 SNP_295798_chr1_245661510 1.37e-02 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 19847056 12564791 CSHL-HuFF-200402.chr1.NT_004836.15_12258254 1.52e-01 2004.02.21 2004.10.21 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 20535956 12564791 WGSA-200403-chr1.chr1.NT_004836.15_12258254 1.52e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 44078778 12564791 hCV26646026 1.52e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 66637236 12564791 HumanHap300v1.1_rs12564791 1.52e-01 2006.11.09 2006.11.09 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 67020315 12564791 HumanHap550v1.1_rs12564791 1.52e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 67341649 12564791 HumanHap650Yv1.0_rs12564791 1.52e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 70412321 12564791 HumanHap300v2.0_rs12564791 1.52e-01 2007.04.18 2007.11.18 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 70575057 12564791 HumanHap550v3.0__rs12564791 1.52e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 71116387 12564791 HumanHap650Yv3.0_rs12564791 1.52e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 75492270 12564791 ILMN_Human_1M_rs12564791 1.52e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 85242128 12564791 KHS938270 1.52e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 119287747 12564791 NA18507_000265599_NCBI36.1_chr1_245661513 1.52e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 121579922 12564791 HumanCNV370v1_C_rs12564791 1.52e-01 2009.04.14 2009.04.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 153233465 12564791 Human610_Quadv1_B_rs12564791-128_T_R_1501643258 1.52e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 159224353 12564791 Human660W-Quad_v1_A_rs12564791-128_T_R_1501643258 1.52e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 160282851 12564791 HumanOmni1-Quad_v1-0_B_rs12564791-128_T_R_1501643258 1.52e-01 2009.08.06 2009.10.02 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 161239998 12564791 ENSSNP197694 1.52e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 165636310 12564791 NA19240_36_chr1_245661513 1.52e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 170166963 12564791 HumanCNV370-Quadv3_C_rs12564791-128_T_R_1501643258 1.52e-01 2009.10.01 2009.10.03 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 172158371 12564791 Human1M-Duov3_B_rs12564791-128_T_R_1501643258 1.52e-01 2009.10.02 2009.10.02 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 210793798 12564791 YRI.trio.3.2010_117439_chr1_245661513 1.52e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 219005664 12564791 pilot_1_YRI_815347_chr1_245661513 1.52e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 230995466 12564791 pilot_1_CEU_600095_chr1_245661513 1.52e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 238590439 12564791 pilot_1_CHB+JPT_475516_chr1_245661513 1.52e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 244276812 12564791 CVDSNP55v1_A_rs12564791 1.52e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 276310527 12564791 GMI_AK_SNP_630694 1.52e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 479773196 12564791 HumanOmni2.5-4v1_B_rs12564791-128_T_R_1690712592 1.52e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 479779455 12564791 HumanOmniExpress-12v1_C_rs12564791-131_T_R_1857449016 1.52e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 480348154 12564791 HumanOmni1-Quad_v1-0_C_rs12564791-131_T_R_1865486628 1.52e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247594890C>T;NG_007509.2:g.20416C>T;NM_001079821.2:c.2327+1833C>T;NM_001127461.2:c.2327+1833C>T;NM_001127462.2:c.2157-2515C>T;NM_001243133.1:c.2321+1833C>T;NM_004895.4:c.2327+1833C>T;NM_183395.2:c.2157-2515C>T 484684969 12564791 HumanOmni2.5-4v1_D_rs12564791-131_T_R_1857449016 1.52e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247594901C>T;NG_007509.2:g.20427C>T;NM_001079821.2:c.2327+1844C>T;NM_001127461.2:c.2327+1844C>T;NM_001127462.2:c.2157-2504C>T;NM_001243133.1:c.2321+1844C>T;NM_004895.4:c.2327+1844C>T;NM_183395.2:c.2157-2504C>T 329363803 144718874 20100804_snps_1007339_chr1_247594901 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247594941C>T;NG_007509.2:g.20467C>T;NM_001079821.2:c.2327+1884C>T;NM_001127461.2:c.2327+1884C>T;NM_001127462.2:c.2157-2464C>T;NM_001243133.1:c.2321+1884C>T;NM_004895.4:c.2327+1884C>T;NM_183395.2:c.2157-2464C>T 329363804 139523098 20100804_snps_1007340_chr1_247594941 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247594993C>T;NG_007509.2:g.20519C>T;NM_001079821.2:c.2327+1936C>T;NM_001127461.2:c.2327+1936C>T;NM_001127462.2:c.2157-2412C>T;NM_001243133.1:c.2321+1936C>T;NM_004895.4:c.2327+1936C>T;NM_183395.2:c.2157-2412C>T 138194249 76293075 ENSSNP11747551 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247595005T>C;NG_007509.2:g.20531T>C;NM_001079821.2:c.2327+1948T>C;NM_001127461.2:c.2327+1948T>C;NM_001127462.2:c.2157-2400T>C;NM_001243133.1:c.2321+1948T>C;NM_004895.4:c.2327+1948T>C;NM_183395.2:c.2157-2400T>C 329363805 76830366 20100804_snps_1007341_chr1_247595005 1.80e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595013A>C;NG_007509.2:g.20539A>C;NM_001079821.2:c.2327+1956A>C;NM_001127461.2:c.2327+1956A>C;NM_001127462.2:c.2157-2392A>C;NM_001243133.1:c.2321+1956A>C;NM_004895.4:c.2327+1956A>C;NM_183395.2:c.2157-2392A>C 219005665 115854871 pilot_1_YRI_815348_chr1_245661636 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595061C>T;NG_007509.2:g.20587C>T;NM_001079821.2:c.2327+2004C>T;NM_001127461.2:c.2327+2004C>T;NM_001127462.2:c.2157-2344C>T;NM_001243133.1:c.2321+2004C>T;NM_004895.4:c.2327+2004C>T;NM_183395.2:c.2157-2344C>T 454808150 183374198 20101123_snps_975380_chr1_247595061 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247595138G>A;NG_007509.2:g.20664G>A;NM_001079821.2:c.2327+2081G>A;NM_001127461.2:c.2327+2081G>A;NM_001127462.2:c.2157-2267G>A;NM_001243133.1:c.2321+2081G>A;NM_004895.4:c.2327+2081G>A;NM_183395.2:c.2157-2267G>A 454808151 185799576 20101123_snps_975381_chr1_247595138 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 114548 NC_000001.10:g.247595219G>T;NG_007509.2:g.20745G>T;NM_001079821.2:c.2327+2162G>T;NM_001127461.2:c.2327+2162G>T;NM_001127462.2:c.2157-2186G>T;NM_001243133.1:c.2321+2162G>T;NM_004895.4:c.2327+2162G>T;NM_183395.2:c.2157-2186G>T 138194250 74376865 ENSSNP7127231 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247595343C>T;NG_007509.2:g.20869C>T;NM_001079821.2:c.2328-2062C>T;NM_001127461.2:c.2328-2062C>T;NM_001127462.2:c.2157-2062C>T;NM_001243133.1:c.2322-2062C>T;NM_004895.4:c.2328-2062C>T;NM_183395.2:c.2157-2062C>T 454808152 190646556 20101123_snps_975382_chr1_247595343 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 18091324 10925018 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12258795 3.38e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 18265210 10925018 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12258795 3.38e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 83560065 10925018 Cor18555_SNV_20070510.chr1_243921472 3.38e-01 2007.12.05 2007.12.05 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 88051270 10925018 JWB-0217796 3.38e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 138194251 10925018 ENSSNP7340323 3.38e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 167597198 10925018 NA20431_36_chr1_245662054 3.38e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 253948993 10925018 SNP242664_1_245662054 3.38e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 276310528 10925018 GMI_AK_SNP_630695 3.38e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 290789441 10925018 SNP_295799_chr1_245662054 3.38e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595431C>T;NG_007509.2:g.20957C>T;NM_001079821.2:c.2328-1974C>T;NM_001127461.2:c.2328-1974C>T;NM_001127462.2:c.2157-1974C>T;NM_001243133.1:c.2322-1974C>T;NM_004895.4:c.2328-1974C>T;NM_183395.2:c.2157-1974C>T 329363806 10925018 20100804_snps_1007342_chr1_247595431 3.38e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595534T>G;NG_007509.2:g.21060T>G;NM_001079821.2:c.2328-1871T>G;NM_001127461.2:c.2328-1871T>G;NM_001127462.2:c.2157-1871T>G;NM_001243133.1:c.2322-1871T>G;NM_004895.4:c.2328-1871T>G;NM_183395.2:c.2157-1871T>G 454808153 183254996 20101123_snps_975383_chr1_247595534 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247595567C>T;NG_007509.2:g.21093C>T;NM_001079821.2:c.2328-1838C>T;NM_001127461.2:c.2328-1838C>T;NM_001127462.2:c.2157-1838C>T;NM_001243133.1:c.2322-1838C>T;NM_004895.4:c.2328-1838C>T;NM_183395.2:c.2157-1838C>T 329363807 140178290 20100804_snps_1007343_chr1_247595567 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247595813G>A;NG_007509.2:g.21339G>A;NM_001079821.2:c.2328-1592G>A;NM_001127461.2:c.2328-1592G>A;NM_001127462.2:c.2157-1592G>A;NM_001243133.1:c.2322-1592G>A;NM_004895.4:c.2328-1592G>A;NM_183395.2:c.2157-1592G>A 454808154 187794620 20101123_snps_975384_chr1_247595813 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 18092928 10925019 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12259214 1.69e-01 2004.02.20 2006.10.26 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 19120802 10925019 CSHL-HuDD-200402.chr1.NT_004836.15_12259214 1.69e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 43921118 10925019 hCV26646027 1.69e-01 2005.07.18 2005.07.18 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 66910396 10925019 HumanHap550v1.1_rs10925019 1.69e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 67041450 10925019 HumanHap650Yv1.0_rs10925019 1.69e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 68094586 10925019 HumanHap250Sv1.0_rs10925019 1.69e-01 2006.12.06 2006.12.07 2004.02.27 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 68800567 10925019 PGP06944281 1.69e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 70507990 10925019 HumanHap550v3.0__rs10925019 1.69e-01 2007.04.20 2008.03.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 71034906 10925019 HumanHap650Yv3.0_rs10925019 1.69e-01 2007.04.23 2007.04.23 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 75484155 10925019 ILMN_Human_1M_rs10925019 1.69e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 85032507 10925019 KHS880263 1.69e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 99306024 10925019 1103675395133 1.69e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 102842950 10925019 BGI_rs10925019 1.69e-01 2008.06.04 2009.06.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 138997923 10925019 ENSSNP197695 1.69e-01 2009.05.18 2010.03.07 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 152876670 10925019 Human610_Quadv1_B_rs10925019-128_T_R_1502080799 1.69e-01 2009.06.18 2009.06.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 156563921 10925019 GMI_SNP_37492019 1.69e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 159153237 10925019 Human660W-Quad_v1_A_rs10925019-128_T_R_1502080799 1.69e-01 2009.07.06 2009.07.06 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 159939126 10925019 HumanOmni1-Quad_v1-0_B_rs10925019-128_T_R_1501360825 1.69e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 165961959 10925019 NA07022_36_chr1_245662473 1.69e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 170759608 10925019 Human1M-Duov3_B_rs10925019-128_T_R_1502080799 1.69e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 199903868 10925019 BUSHMAN-chr1-245662472 1.69e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 205411012 10925019 BCM_CMT_1011-184475 1.69e-01 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 219005666 10925019 pilot_1_YRI_815349_chr1_245662473 1.69e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 230995467 10925019 pilot_1_CEU_600096_chr1_245662473 1.69e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 238590441 10925019 pilot_1_CHB+JPT_475518_chr1_245662473 1.69e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 244270846 10925019 CVDSNP55v1_A_rs10925019 1.69e-01 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 276310529 10925019 GMI_AK_SNP_630696 1.69e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 290789442 10925019 SNP_295800_chr1_245662473 1.69e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 479822584 10925019 HumanOmni1-Quad_v1-0_C_rs10925019-131_T_R_1858937109 1.69e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 481642542 10925019 HumanOmni2.5-4v1_D_kgp1845599-0_T_R_1821120788 1.69e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247595850C>T;NG_007509.2:g.21376C>T;NM_001079821.2:c.2328-1555C>T;NM_001127461.2:c.2328-1555C>T;NM_001127462.2:c.2157-1555C>T;NM_001243133.1:c.2322-1555C>T;NM_004895.4:c.2328-1555C>T;NM_183395.2:c.2157-1555C>T 482298409 10925019 HumanOmni2.5-4v1_B_SNP1-245662473-0_T_R_1633272006 1.69e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247595997T>C;NG_007509.2:g.21523T>C;NM_001079821.2:c.2328-1408T>C;NM_001127461.2:c.2328-1408T>C;NM_001127462.2:c.2157-1408T>C;NM_001243133.1:c.2322-1408T>C;NM_004895.4:c.2328-1408T>C;NM_183395.2:c.2157-1408T>C 143534463 80064954 ENSSNP5256306 5.00e-04 2009.06.06 2009.10.17 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247595997T>C;NG_007509.2:g.21523T>C;NM_001079821.2:c.2328-1408T>C;NM_001127461.2:c.2328-1408T>C;NM_001127462.2:c.2157-1408T>C;NM_001243133.1:c.2322-1408T>C;NM_004895.4:c.2328-1408T>C;NM_183395.2:c.2157-1408T>C 454808155 80064954 20101123_snps_975385_chr1_247595997 5.00e-04 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596021G>A;NG_007509.2:g.21547G>A;NM_001079821.2:c.2328-1384G>A;NM_001127461.2:c.2328-1384G>A;NM_001127462.2:c.2157-1384G>A;NM_001243133.1:c.2322-1384G>A;NM_004895.4:c.2328-1384G>A;NM_183395.2:c.2157-1384G>A 329363808 142418006 20100804_snps_1007344_chr1_247596021 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247596051T>C;NG_007509.2:g.21577T>C;NM_001079821.2:c.2328-1354T>C;NM_001127461.2:c.2328-1354T>C;NM_001127462.2:c.2157-1354T>C;NM_001243133.1:c.2322-1354T>C;NM_004895.4:c.2328-1354T>C;NM_183395.2:c.2157-1354T>C 454808156 182423480 20101123_snps_975386_chr1_247596051 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 6810144 4925654 NT_031730.6_384277 2.02e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 17334073 4925654 CSHL-HuCC-200402.chr1.NT_004836.15_12259421 2.02e-01 2004.02.19 2006.10.26 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 19106159 4925654 CSHL-HuDD-200402.chr1.NT_004836.15_12259421 2.02e-01 2004.02.20 2004.03.04 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 41303075 4925654 hCV31451953 2.02e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 67399700 4925654 HumanHap550v1.1_rs4925654 2.02e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 67769577 4925654 HumanHap650Yv1.0_rs4925654 2.02e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 68240659 4925654 HumanHap250Sv1.0_rs4925654 2.02e-01 2006.12.06 2006.12.07 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 68800568 4925654 PGP06362842 2.02e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 70836562 4925654 HumanHap550v3.0__rs4925654 2.02e-01 2007.04.20 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 71419875 4925654 HumanHap650Yv3.0_rs4925654 2.02e-01 2007.04.23 2007.04.23 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 75566158 4925654 ILMN_Human_1M_rs4925654 2.02e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 79792083 4925654 Cor18507_SNV_20070510.chr1_243922098 2.02e-01 2007.11.23 2007.11.23 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 84400503 4925654 KHS702236 2.02e-01 2007.12.07 2007.12.07 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 85441832 4925654 Cor18517_SNV_20070510.chr1_243922098 2.02e-01 2007.12.09 2007.12.09 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 88051272 4925654 JWB-0217797 2.02e-01 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 98020142 4925654 1103675395136 2.02e-01 2008.03.30 2008.03.30 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 106647974 4925654 BGI_rs4925654 2.02e-01 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 109136509 4925654 CEU.trio.12.15.2008_293428_chr1_245662680 2.02e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 112114476 4925654 NA19240_2008_12_16_266124_chr1_245662680 2.02e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 119287749 4925654 NA18507_000265600_NCBI36.1_chr1_245662680 2.02e-01 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 138194252 4925654 ENSSNP6046076 2.02e-01 2009.05.17 2009.05.17 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 138997920 4925654 ENSSNP197696 2.02e-01 2009.05.18 2009.10.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 154329502 4925654 Human610_Quadv1_B_rs4925654-128_B_R_1502226298 2.02e-01 2009.06.20 2009.06.20 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 156563927 4925654 GMI_SNP_36680206 2.02e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 159506024 4925654 Human660W-Quad_v1_A_rs4925654-128_B_R_1502226298 2.02e-01 2009.07.07 2009.07.07 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 160728725 4925654 HumanOmni1-Quad_v1-0_B_rs4925654-128_B_R_1501508296 2.02e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 165636318 4925654 NA19240_36_chr1_245662680 2.02e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 165961962 4925654 NA07022_36_chr1_245662680 2.02e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 167597200 4925654 NA20431_36_chr1_245662680 2.02e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 173877315 4925654 Human1M-Duov3_B_rs4925654-128_B_R_1502226298 2.02e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 199903872 4925654 BUSHMAN-chr1-245662679 2.02e-01 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 205092056 4925654 BCM_CMT_1011-26563 2.02e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 219005667 4925654 pilot_1_YRI_815350_chr1_245662680 2.02e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 230995469 4925654 pilot_1_CEU_600098_chr1_245662680 2.02e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 238590442 4925654 pilot_1_CHB+JPT_475519_chr1_245662680 2.02e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 253948996 4925654 SNP242665_1_245662680 2.02e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 276310530 4925654 GMI_AK_SNP_630697 2.02e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 290789443 4925654 SNP_295801_chr1_245662680 2.02e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 481103110 4925654 HumanOmni2.5-4v1_B_rs4925654-128_B_R_1765497187 2.02e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 481125107 4925654 HumanOmniExpress-12v1_C_rs4925654-131_B_R_1857729495 2.02e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 482115821 4925654 HumanOmni1-Quad_v1-0_C_rs4925654-131_B_R_1865299938 2.02e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596057A>G;NG_007509.2:g.21583A>G;NM_001079821.2:c.2328-1348A>G;NM_001127461.2:c.2328-1348A>G;NM_001127462.2:c.2157-1348A>G;NM_001243133.1:c.2322-1348A>G;NM_004895.4:c.2328-1348A>G;NM_183395.2:c.2157-1348A>G 485346632 4925654 HumanOmni2.5-4v1_D_rs4925654-131_B_R_1857729495 2.02e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 11346139 7514428 chr1.NT_004536.14_1595869 5.63e-02 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 15387409 7514428 NT_004836.15_12259681 5.63e-02 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 77596836 7514428 Cor12156_SNV_20070510.chr1_243922358 5.63e-02 2007.10.13 2007.10.13 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 78444428 7514428 Cor12878_SNV_20070510.chr1_243922358 5.63e-02 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 79062626 7514428 Cor18507_SNV_20070510.chr1_243922358 5.63e-02 2007.10.22 2007.10.22 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 88051274 7514428 JWB-0217798 5.63e-02 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 98020143 7514428 1103675395137 5.63e-02 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 106647975 7514428 BGI_rs7514428 5.63e-02 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 109136513 7514428 CEU.trio.12.15.2008_293429_chr1_245662940 5.63e-02 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 112114486 7514428 NA19240_2008_12_16_266125_chr1_245662940 5.63e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 119287751 7514428 NA18507_000265601_NCBI36.1_chr1_245662940 5.63e-02 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 138194253 7514428 ENSSNP11747555 5.63e-02 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 142725167 7514428 ENSSNP4711882 5.63e-02 2009.06.05 2009.10.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 165636328 7514428 NA19240_36_chr1_245662940 5.63e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 167597202 7514428 NA20431_36_chr1_245662940 5.63e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 199903876 7514428 BUSHMAN-chr1-245662939 5.63e-02 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 205193234 7514428 BCM_CMT_1011-76458 5.63e-02 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 219005668 7514428 pilot_1_YRI_815351_chr1_245662940 5.63e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 230995470 7514428 pilot_1_CEU_600099_chr1_245662940 5.63e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 238590443 7514428 pilot_1_CHB+JPT_475520_chr1_245662940 5.63e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 253948997 7514428 SNP242666_1_245662940 5.63e-02 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 276310531 7514428 GMI_AK_SNP_630698 5.63e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247596317G>C;NG_007509.2:g.21843G>C;NM_001079821.2:c.2328-1088G>C;NM_001127461.2:c.2328-1088G>C;NM_001127462.2:c.2157-1088G>C;NM_001243133.1:c.2322-1088G>C;NM_004895.4:c.2328-1088G>C;NM_183395.2:c.2157-1088G>C 290789444 7514428 SNP_295802_chr1_245662940 5.63e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596321A>G;NG_007509.2:g.21847A>G;NM_001079821.2:c.2328-1084A>G;NM_001127461.2:c.2328-1084A>G;NM_001127462.2:c.2157-1084A>G;NM_001243133.1:c.2322-1084A>G;NM_004895.4:c.2328-1084A>G;NM_183395.2:c.2157-1084A>G 219005669 78148018 pilot_1_YRI_815352_chr1_245662944 9.34e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596321A>G;NG_007509.2:g.21847A>G;NM_001079821.2:c.2328-1084A>G;NM_001127461.2:c.2328-1084A>G;NM_001127462.2:c.2157-1084A>G;NM_001243133.1:c.2322-1084A>G;NM_004895.4:c.2328-1084A>G;NM_183395.2:c.2157-1084A>G 238590444 78148018 pilot_1_CHB+JPT_475521_chr1_245662944 9.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 114548 NC_000001.10:g.247596321A>G;NG_007509.2:g.21847A>G;NM_001079821.2:c.2328-1084A>G;NM_001127461.2:c.2328-1084A>G;NM_001127462.2:c.2157-1084A>G;NM_001243133.1:c.2322-1084A>G;NM_004895.4:c.2328-1084A>G;NM_183395.2:c.2157-1084A>G 253948999 78148018 SNP242667_1_245662944 9.34e-02 2010.08.19 2010.08.19 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247596321A>G;NG_007509.2:g.21847A>G;NM_001079821.2:c.2328-1084A>G;NM_001127461.2:c.2328-1084A>G;NM_001127462.2:c.2157-1084A>G;NM_001243133.1:c.2322-1084A>G;NM_004895.4:c.2328-1084A>G;NM_183395.2:c.2157-1084A>G 276310532 78148018 GMI_AK_SNP_630699 9.34e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247596386G>A;NG_007509.2:g.21912G>A;NM_001079821.2:c.2328-1019G>A;NM_001127461.2:c.2328-1019G>A;NM_001127462.2:c.2157-1019G>A;NM_001243133.1:c.2322-1019G>A;NM_004895.4:c.2328-1019G>A;NM_183395.2:c.2157-1019G>A 119287752 76351926 NA18507_000265602_NCBI36.1_chr1_245663009 1.45e-01 2009.01.22 2009.01.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596386G>A;NG_007509.2:g.21912G>A;NM_001079821.2:c.2328-1019G>A;NM_001127461.2:c.2328-1019G>A;NM_001127462.2:c.2157-1019G>A;NM_001243133.1:c.2322-1019G>A;NM_004895.4:c.2328-1019G>A;NM_183395.2:c.2157-1019G>A 219005670 76351926 pilot_1_YRI_815353_chr1_245663009 1.45e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596386G>A;NG_007509.2:g.21912G>A;NM_001079821.2:c.2328-1019G>A;NM_001127461.2:c.2328-1019G>A;NM_001127462.2:c.2157-1019G>A;NM_001243133.1:c.2322-1019G>A;NM_004895.4:c.2328-1019G>A;NM_183395.2:c.2157-1019G>A 230995471 76351926 pilot_1_CEU_600100_chr1_245663009 1.45e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596386G>A;NG_007509.2:g.21912G>A;NM_001079821.2:c.2328-1019G>A;NM_001127461.2:c.2328-1019G>A;NM_001127462.2:c.2157-1019G>A;NM_001243133.1:c.2322-1019G>A;NM_004895.4:c.2328-1019G>A;NM_183395.2:c.2157-1019G>A 238590445 76351926 pilot_1_CHB+JPT_475522_chr1_245663009 1.45e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247596386G>A;NG_007509.2:g.21912G>A;NM_001079821.2:c.2328-1019G>A;NM_001127461.2:c.2328-1019G>A;NM_001127462.2:c.2157-1019G>A;NM_001243133.1:c.2322-1019G>A;NM_004895.4:c.2328-1019G>A;NM_183395.2:c.2157-1019G>A 276310533 76351926 GMI_AK_SNP_630700 1.45e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596393C>A;NG_007509.2:g.21919C>A;NM_001079821.2:c.2328-1012C>A;NM_001127461.2:c.2328-1012C>A;NM_001127462.2:c.2157-1012C>A;NM_001243133.1:c.2322-1012C>A;NM_004895.4:c.2328-1012C>A;NM_183395.2:c.2157-1012C>A 454808157 186874100 20101123_snps_975387_chr1_247596393 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247596522_247596523insA;NG_007509.2:g.22048_22049insA;NM_001079821.2:c.2328-883_2328-882insA;NM_001127461.2:c.2328-883_2328-882insA;NM_001127462.2:c.2157-883_2157-882insA;NM_001243133.1:c.2322-883_2322-882insA;NM_004895.4:c.2328-883_2328-882insA;NM_183395.2:c.2157-883_2157-882insA 499190869 201110211 20110316_indels_chr1_247596522_247596523 4.35e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 11351010 7516771 chr1.NT_004536.14_1596079 1.05e-01 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 15387410 7516771 NT_004836.15_12259891 1.05e-01 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 77710392 7516771 Cor12156_SNV_20070510.chr1_243922568 1.05e-01 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 78620417 7516771 Cor12878_SNV_20070510.chr1_243922568 1.05e-01 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 80458962 7516771 Cor18507_SNV_20070510.chr1_243922568 1.05e-01 2007.11.25 2007.11.25 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 98020144 7516771 1103675395138 1.05e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 106647976 7516771 BGI_rs7516771 1.05e-01 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 109136517 7516771 CEU.trio.12.15.2008_293430_chr1_245663150 1.05e-01 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 112114494 7516771 NA19240_2008_12_16_266126_chr1_245663150 1.05e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 119287754 7516771 NA18507_000265603_NCBI36.1_chr1_245663150 1.05e-01 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 133874048 7516771 ENSSNP3209648 1.05e-01 2009.05.12 2009.10.14 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 156563936 7516771 GMI_SNP_280322398 1.05e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 165636338 7516771 NA19240_36_chr1_245663150 1.05e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 165961966 7516771 NA07022_36_chr1_245663150 1.05e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 167597204 7516771 NA20431_36_chr1_245663150 1.05e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 205474997 7516771 BCM_CMT_1011-216581 1.05e-01 2010.03.16 2010.03.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 219005671 7516771 pilot_1_YRI_815354_chr1_245663150 1.05e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 230995472 7516771 pilot_1_CEU_600101_chr1_245663150 1.05e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 238590446 7516771 pilot_1_CHB+JPT_475523_chr1_245663150 1.05e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 253949004 7516771 SNP242668_1_245663150 1.05e-01 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 276310534 7516771 GMI_AK_SNP_630701 1.05e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247596527G>A;NG_007509.2:g.22053G>A;NM_001079821.2:c.2328-878G>A;NM_001127461.2:c.2328-878G>A;NM_001127462.2:c.2157-878G>A;NM_001243133.1:c.2322-878G>A;NM_004895.4:c.2328-878G>A;NM_183395.2:c.2157-878G>A 290789445 7516771 SNP_295803_chr1_245663150 1.05e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596576C>T;NG_007509.2:g.22102C>T;NM_001079821.2:c.2328-829C>T;NM_001127461.2:c.2328-829C>T;NM_001127462.2:c.2157-829C>T;NM_001243133.1:c.2322-829C>T;NM_004895.4:c.2328-829C>T;NM_183395.2:c.2157-829C>T 454808158 192473520 20101123_snps_975388_chr1_247596576 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247596589G>A;NG_007509.2:g.22115G>A;NM_001079821.2:c.2328-816G>A;NM_001127461.2:c.2328-816G>A;NM_001127462.2:c.2157-816G>A;NM_001243133.1:c.2322-816G>A;NM_004895.4:c.2328-816G>A;NM_183395.2:c.2157-816G>A 329363809 151296060 20100804_snps_1007345_chr1_247596589 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247596662G>A;NG_007509.2:g.22188G>A;NM_001079821.2:c.2328-743G>A;NM_001127461.2:c.2328-743G>A;NM_001127462.2:c.2157-743G>A;NM_001243133.1:c.2322-743G>A;NM_004895.4:c.2328-743G>A;NM_183395.2:c.2157-743G>A 219005672 114295319 pilot_1_YRI_815355_chr1_245663285 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596662G>A;NG_007509.2:g.22188G>A;NM_001079821.2:c.2328-743G>A;NM_001127461.2:c.2328-743G>A;NM_001127462.2:c.2157-743G>A;NM_001243133.1:c.2322-743G>A;NM_004895.4:c.2328-743G>A;NM_183395.2:c.2157-743G>A 480886562 114295319 HumanOmni2.5-4v1_D_kgp15572150-0_T_F_1836788146 6.90e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596662G>A;NG_007509.2:g.22188G>A;NM_001079821.2:c.2328-743G>A;NM_001127461.2:c.2328-743G>A;NM_001127462.2:c.2157-743G>A;NM_001243133.1:c.2322-743G>A;NM_004895.4:c.2328-743G>A;NM_183395.2:c.2157-743G>A 482298412 114295319 HumanOmni2.5-4v1_B_SNP1-245663285-0_T_F_1625876554 6.90e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596673C>A;NG_007509.2:g.22199C>A;NM_001079821.2:c.2328-732C>A;NM_001127461.2:c.2328-732C>A;NM_001127462.2:c.2157-732C>A;NM_001243133.1:c.2322-732C>A;NM_004895.4:c.2328-732C>A;NM_183395.2:c.2157-732C>A 454808159 185079449 20101123_snps_975389_chr1_247596673 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247596698A>G;NG_007509.2:g.22224A>G;NM_001079821.2:c.2328-707A>G;NM_001127461.2:c.2328-707A>G;NM_001127462.2:c.2157-707A>G;NM_001243133.1:c.2322-707A>G;NM_004895.4:c.2328-707A>G;NM_183395.2:c.2157-707A>G 329363810 140532312 20100804_snps_1007346_chr1_247596698 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247596723C>T;NG_007509.2:g.22249C>T;NM_001079821.2:c.2328-682C>T;NM_001127461.2:c.2328-682C>T;NM_001127462.2:c.2157-682C>T;NM_001243133.1:c.2322-682C>T;NM_004895.4:c.2328-682C>T;NM_183395.2:c.2157-682C>T 329363811 150329274 20100804_snps_1007347_chr1_247596723 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247596728G>A;NC_000001.10:g.247596728G>T;NG_007509.2:g.22254G>A;NG_007509.2:g.22254G>T;NM_001079821.2:c.2328-677G>A;NM_001079821.2:c.2328-677G>T;NM_001127461.2:c.2328-677G>A;NM_001127461.2:c.2328-677G>T;NM_001127462.2:c.2157-677G>A;NM_001127462.2:c.2157-677G>T;NM_001243133.1:c.2322-677G>A;NM_001243133.1:c.2322-677G>T;NM_004895.4:c.2328-677G>A;NM_004895.4:c.2328-677G>T;NM_183395.2:c.2157-677G>A;NM_183395.2:c.2157-677G>T 454808160 187507549 20101123_snps_975390_chr1_247596728 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.05.16 137 MPI_MOLGEN 114548 NC_000001.10:g.247596728G>A;NC_000001.10:g.247596728G>T;NG_007509.2:g.22254G>A;NG_007509.2:g.22254G>T;NM_001079821.2:c.2328-677G>A;NM_001079821.2:c.2328-677G>T;NM_001127461.2:c.2328-677G>A;NM_001127461.2:c.2328-677G>T;NM_001127462.2:c.2157-677G>A;NM_001127462.2:c.2157-677G>T;NM_001243133.1:c.2322-677G>A;NM_001243133.1:c.2322-677G>T;NM_004895.4:c.2328-677G>A;NM_004895.4:c.2328-677G>T;NM_183395.2:c.2157-677G>A;NM_183395.2:c.2157-677G>T 469117689 187507549 Chromosome1_245663351 9.00e-04 2011.08.15 2011.08.15 2011.09.17 2012.05.16 137 SSAHASNP 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 35309772 28556841 TA-079.chr1_243922791 1.33e-01 2005.03.11 2005.05.24 2012.11.28 137 BGI 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 102842951 28556841 BGI_rs28556841 1.33e-01 2008.06.04 2009.06.17 2005.05.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 156563943 28556841 GMI_SNP_35832506 1.33e-01 2009.06.25 2009.06.25 2005.05.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 230995473 28556841 pilot_1_CEU_600102_chr1_245663373 1.33e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 238590447 28556841 pilot_1_CHB+JPT_475524_chr1_245663373 1.33e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247596750G>A;NG_007509.2:g.22276G>A;NM_001079821.2:c.2328-655G>A;NM_001127461.2:c.2328-655G>A;NM_001127462.2:c.2157-655G>A;NM_001243133.1:c.2322-655G>A;NM_004895.4:c.2328-655G>A;NM_183395.2:c.2157-655G>A 276310535 28556841 GMI_AK_SNP_630702 1.33e-01 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596782T>C;NG_007509.2:g.22308T>C;NM_001079821.2:c.2328-623T>C;NM_001127461.2:c.2328-623T>C;NM_001127462.2:c.2157-623T>C;NM_001243133.1:c.2322-623T>C;NM_004895.4:c.2328-623T>C;NM_183395.2:c.2157-623T>C 167597206 112152979 NA20431_36_chr1_245663405 1.80e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596782T>C;NG_007509.2:g.22308T>C;NM_001079821.2:c.2328-623T>C;NM_001127461.2:c.2328-623T>C;NM_001127462.2:c.2157-623T>C;NM_001243133.1:c.2322-623T>C;NM_004895.4:c.2328-623T>C;NM_183395.2:c.2157-623T>C 454808161 112152979 20101123_snps_975391_chr1_247596782 1.80e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 109136521 68078384 CEU.trio.12.15.2008_293431_chr1_245663447 2.67e-01 2008.12.16 2008.12.16 2009.02.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 112114502 68078384 NA19240_2008_12_16_266127_chr1_245663447 2.67e-01 2008.12.17 2008.12.17 2009.02.06 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 119287756 68078384 NA18507_000265604_NCBI36.1_chr1_245663447 2.67e-01 2009.01.22 2009.01.22 2009.02.06 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 165636345 68078384 NA19240_36_chr1_245663447 2.67e-01 2009.09.30 2009.09.30 2009.02.06 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 167597208 68078384 NA20431_36_chr1_245663447 2.67e-01 2009.09.30 2009.09.30 2009.02.06 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 199903880 68078384 BUSHMAN-chr1-245663446 2.67e-01 2010.03.07 2010.03.07 2009.02.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 219005673 68078384 pilot_1_YRI_815356_chr1_245663447 2.67e-01 2010.04.22 2010.04.22 2009.02.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 230995474 68078384 pilot_1_CEU_600103_chr1_245663447 2.67e-01 2010.05.01 2010.05.01 2009.02.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 238590448 68078384 pilot_1_CHB+JPT_475525_chr1_245663447 2.67e-01 2010.05.01 2010.05.01 2009.02.06 2012.11.28 137 GMI 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 276310536 68078384 GMI_AK_SNP_630703 2.67e-01 2010.12.16 2010.12.16 2009.02.06 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 480003542 68078384 HumanOmni2.5-4v1_D_kgp12304262-0_T_F_1818112642 2.67e-01 2012.01.31 2012.01.31 2009.02.06 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596824A>C;NG_007509.2:g.22350A>C;NM_001079821.2:c.2328-581A>C;NM_001127461.2:c.2328-581A>C;NM_001127462.2:c.2157-581A>C;NM_001243133.1:c.2322-581A>C;NM_004895.4:c.2328-581A>C;NM_183395.2:c.2157-581A>C 482298415 68078384 HumanOmni2.5-4v1_B_SNP1-245663447-0_T_F_1617809278 2.67e-01 2012.02.01 2012.02.01 2009.02.06 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596830C>T;NG_007509.2:g.22356C>T;NM_001079821.2:c.2328-575C>T;NM_001127461.2:c.2328-575C>T;NM_001127462.2:c.2157-575C>T;NM_001243133.1:c.2322-575C>T;NM_004895.4:c.2328-575C>T;NM_183395.2:c.2157-575C>T 219005674 116021629 pilot_1_YRI_815357_chr1_245663453 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 119287758 74154640 NA18507_000265605_NCBI36.1_chr1_245663483 1.48e-01 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 219005675 74154640 pilot_1_YRI_815358_chr1_245663483 1.48e-01 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 230995475 74154640 pilot_1_CEU_600104_chr1_245663483 1.48e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 238590449 74154640 pilot_1_CHB+JPT_475526_chr1_245663483 1.48e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 276310537 74154640 GMI_AK_SNP_630704 1.48e-01 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 482298418 74154640 HumanOmni2.5-4v1_B_SNP1-245663483-0_B_R_1633560888 1.48e-01 2012.02.01 2012.02.01 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596860C>A;NG_007509.2:g.22386C>A;NM_001079821.2:c.2328-545C>A;NM_001127461.2:c.2328-545C>A;NM_001127462.2:c.2157-545C>A;NM_001243133.1:c.2322-545C>A;NM_004895.4:c.2328-545C>A;NM_183395.2:c.2157-545C>A 483344523 74154640 HumanOmni2.5-4v1_D_kgp4371565-0_B_R_1817546433 1.48e-01 2012.02.02 2012.02.02 2009.02.15 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247596881_247596922del42;NG_007509.2:g.22407_22448del42;NM_001079821.2:c.2328-524_2328-483del42;NM_001127461.2:c.2328-524_2328-483del42;NM_001127462.2:c.2157-524_2157-483del42;NM_001243133.1:c.2322-524_2322-483del42;NM_004895.4:c.2328-524_2328-483del42;NM_183395.2:c.2157-524_2157-483del42 99855616 71814569 INDEL_GP36_2007a_863712_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596912G>A;NG_007509.2:g.22438G>A;NM_001079821.2:c.2328-493G>A;NM_001127461.2:c.2328-493G>A;NM_001127462.2:c.2157-493G>A;NM_001243133.1:c.2322-493G>A;NM_004895.4:c.2328-493G>A;NM_183395.2:c.2157-493G>A 165636354 111614722 NA19240_36_chr1_245663535 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247596949G>A;NG_007509.2:g.22475G>A;NM_001079821.2:c.2328-456G>A;NM_001127461.2:c.2328-456G>A;NM_001127462.2:c.2157-456G>A;NM_001243133.1:c.2322-456G>A;NM_004895.4:c.2328-456G>A;NM_183395.2:c.2157-456G>A 18196762 12089266 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12260313 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596949G>A;NG_007509.2:g.22475G>A;NM_001079821.2:c.2328-456G>A;NM_001127461.2:c.2328-456G>A;NM_001127462.2:c.2157-456G>A;NM_001243133.1:c.2322-456G>A;NM_004895.4:c.2328-456G>A;NM_183395.2:c.2157-456G>A 160032520 12089266 HumanOmni1-Quad_v1-0_B_rs12089266-128_T_F_1574052692 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247596949G>A;NG_007509.2:g.22475G>A;NM_001079821.2:c.2328-456G>A;NM_001127461.2:c.2328-456G>A;NM_001127462.2:c.2157-456G>A;NM_001243133.1:c.2322-456G>A;NM_004895.4:c.2328-456G>A;NM_183395.2:c.2157-456G>A 480195822 12089266 HumanOmni1-Quad_v1-0_C_rs12089266-131_T_F_1863780965 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247596951C>T;NG_007509.2:g.22477C>T;NM_001079821.2:c.2328-454C>T;NM_001127461.2:c.2328-454C>T;NM_001127462.2:c.2157-454C>T;NM_001243133.1:c.2322-454C>T;NM_004895.4:c.2328-454C>T;NM_183395.2:c.2157-454C>T 18157837 12068914 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12260315 8.20e-03 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596951C>T;NG_007509.2:g.22477C>T;NM_001079821.2:c.2328-454C>T;NM_001127461.2:c.2328-454C>T;NM_001127462.2:c.2157-454C>T;NM_001243133.1:c.2322-454C>T;NM_004895.4:c.2328-454C>T;NM_183395.2:c.2157-454C>T 329363812 12068914 20100804_snps_1007348_chr1_247596951 8.20e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 88051276 61841185 JWB-2759466 1.27e-01 2008.02.27 2008.02.27 2008.03.24 2012.11.28 137 BGI 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 102842952 61841185 BGI_YHSNP0155529 1.27e-01 2008.06.04 2009.06.17 2008.03.24 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 138194254 61841185 ENSSNP11747556 1.27e-01 2009.05.17 2009.05.17 2008.03.24 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 165636364 61841185 NA19240_36_chr1_245663577 1.27e-01 2009.09.30 2009.09.30 2008.03.24 2012.11.28 137 BL 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 253949007 61841185 SNP242669_1_245663577 1.27e-01 2010.08.19 2010.08.19 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596954G>A;NG_007509.2:g.22480G>A;NM_001079821.2:c.2328-451G>A;NM_001127461.2:c.2328-451G>A;NM_001127462.2:c.2157-451G>A;NM_001243133.1:c.2322-451G>A;NM_004895.4:c.2328-451G>A;NM_183395.2:c.2157-451G>A 329363813 61841185 20100804_snps_1007349_chr1_247596954 1.27e-01 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596959T>A;NG_007509.2:g.22485T>A;NM_001079821.2:c.2328-446T>A;NM_001127461.2:c.2328-446T>A;NM_001127462.2:c.2157-446T>A;NM_001243133.1:c.2322-446T>A;NM_004895.4:c.2328-446T>A;NM_183395.2:c.2157-446T>A 167597210 112898160 NA20431_36_chr1_245663582 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247596986G>T;NG_007509.2:g.22512G>T;NM_001079821.2:c.2328-419G>T;NM_001127461.2:c.2328-419G>T;NM_001127462.2:c.2157-419G>T;NM_001243133.1:c.2322-419G>T;NM_004895.4:c.2328-419G>T;NM_183395.2:c.2157-419G>T 329363814 145763663 20100804_snps_1007350_chr1_247596986 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 114548 NC_000001.10:g.247596993C>T;NG_007509.2:g.22519C>T;NM_001079821.2:c.2328-412C>T;NM_001127461.2:c.2328-412C>T;NM_001127462.2:c.2157-412C>T;NM_001243133.1:c.2322-412C>T;NM_004895.4:c.2328-412C>T;NM_183395.2:c.2157-412C>T 276310538 138958966 GMI_AK_SNP_630705 1.46e-01 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247596993C>T;NG_007509.2:g.22519C>T;NM_001079821.2:c.2328-412C>T;NM_001127461.2:c.2328-412C>T;NM_001127462.2:c.2157-412C>T;NM_001243133.1:c.2322-412C>T;NM_004895.4:c.2328-412C>T;NM_183395.2:c.2157-412C>T 329363815 138958966 20100804_snps_1007351_chr1_247596993 1.46e-01 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247596996G>A;NG_007509.2:g.22522G>A;NM_001079821.2:c.2328-409G>A;NM_001127461.2:c.2328-409G>A;NM_001127462.2:c.2157-409G>A;NM_001243133.1:c.2322-409G>A;NM_004895.4:c.2328-409G>A;NM_183395.2:c.2157-409G>A 165636372 112237983 NA19240_36_chr1_245663619 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597001delT;NC_000001.10:g.247597001delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NG_007509.2:g.22527delT;NG_007509.2:g.22527delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_001079821.2:c.2328-404delT;NM_001079821.2:c.2328-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_001127461.2:c.2328-404delT;NM_001127461.2:c.2328-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_001127462.2:c.2157-404delT;NM_001127462.2:c.2157-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_001243133.1:c.2322-404delT;NM_001243133.1:c.2322-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_004895.4:c.2328-404delT;NM_004895.4:c.2328-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC;NM_183395.2:c.2157-404delT;NM_183395.2:c.2157-404delTinsTTTCTCTATTCCGGAGCTCTCTGGTCAGGTGTGTCCTGATGC 95261587 74163770 1104685304931 2008.03.21 2008.12.02 2009.02.15 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247597013G>A;NG_007509.2:g.22539G>A;NM_001079821.2:c.2328-392G>A;NM_001127461.2:c.2328-392G>A;NM_001127462.2:c.2157-392G>A;NM_001243133.1:c.2322-392G>A;NM_004895.4:c.2328-392G>A;NM_183395.2:c.2157-392G>A 18196781 12089277 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12260377 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597013G>A;NG_007509.2:g.22539G>A;NM_001079821.2:c.2328-392G>A;NM_001127461.2:c.2328-392G>A;NM_001127462.2:c.2157-392G>A;NM_001243133.1:c.2322-392G>A;NM_004895.4:c.2328-392G>A;NM_183395.2:c.2157-392G>A 88051278 12089277 JWB-0217799 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597013G>A;NG_007509.2:g.22539G>A;NM_001079821.2:c.2328-392G>A;NM_001127461.2:c.2328-392G>A;NM_001127462.2:c.2157-392G>A;NM_001243133.1:c.2322-392G>A;NM_004895.4:c.2328-392G>A;NM_183395.2:c.2157-392G>A 165636383 12089277 NA19240_36_chr1_245663636 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597013G>A;NG_007509.2:g.22539G>A;NM_001079821.2:c.2328-392G>A;NM_001127461.2:c.2328-392G>A;NM_001127462.2:c.2157-392G>A;NM_001243133.1:c.2322-392G>A;NM_004895.4:c.2328-392G>A;NM_183395.2:c.2157-392G>A 276310539 12089277 GMI_AK_SNP_630706 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597029G>A;NG_007509.2:g.22555G>A;NM_001079821.2:c.2328-376G>A;NM_001127461.2:c.2328-376G>A;NM_001127462.2:c.2157-376G>A;NM_001243133.1:c.2322-376G>A;NM_004895.4:c.2328-376G>A;NM_183395.2:c.2157-376G>A 454808162 185332888 20101123_snps_975392_chr1_247597029 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247597035C>T;NG_007509.2:g.22561C>T;NM_001079821.2:c.2328-370C>T;NM_001127461.2:c.2328-370C>T;NM_001127462.2:c.2157-370C>T;NM_001243133.1:c.2322-370C>T;NM_004895.4:c.2328-370C>T;NM_183395.2:c.2157-370C>T 329363818 148040387 20100804_snps_1007354_chr1_247597035 2.34e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247597043T>A;NG_007509.2:g.22569T>A;NM_001079821.2:c.2328-362T>A;NM_001127461.2:c.2328-362T>A;NM_001127462.2:c.2157-362T>A;NM_001243133.1:c.2322-362T>A;NM_004895.4:c.2328-362T>A;NM_183395.2:c.2157-362T>A 17373779 11810980 CSHL-HuCC-200402.chr1.NT_004836.15_12260407 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 ABI 114548 NC_000001.10:g.247597043T>A;NG_007509.2:g.22569T>A;NM_001079821.2:c.2328-362T>A;NM_001127461.2:c.2328-362T>A;NM_001127462.2:c.2157-362T>A;NM_001243133.1:c.2322-362T>A;NM_004895.4:c.2328-362T>A;NM_183395.2:c.2157-362T>A 41307748 11810980 hCV31451958 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597043T>A;NG_007509.2:g.22569T>A;NM_001079821.2:c.2328-362T>A;NM_001127461.2:c.2328-362T>A;NM_001127462.2:c.2157-362T>A;NM_001243133.1:c.2322-362T>A;NM_004895.4:c.2328-362T>A;NM_183395.2:c.2157-362T>A 88051281 11810980 JWB-0217800 2008.02.27 2008.02.27 2004.02.28 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597043T>A;NG_007509.2:g.22569T>A;NM_001079821.2:c.2328-362T>A;NM_001127461.2:c.2328-362T>A;NM_001127462.2:c.2157-362T>A;NM_001243133.1:c.2322-362T>A;NM_004895.4:c.2328-362T>A;NM_183395.2:c.2157-362T>A 138194255 11810980 ENSSNP6401268 2009.05.17 2009.05.17 2004.02.28 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597043T>A;NG_007509.2:g.22569T>A;NM_001079821.2:c.2328-362T>A;NM_001127461.2:c.2328-362T>A;NM_001127462.2:c.2157-362T>A;NM_001243133.1:c.2322-362T>A;NM_004895.4:c.2328-362T>A;NM_183395.2:c.2157-362T>A 161240001 11810980 ENSSNP197697 2009.09.24 2009.09.24 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597050A>G;NG_007509.2:g.22576A>G;NM_001079821.2:c.2328-355A>G;NM_001127461.2:c.2328-355A>G;NM_001127462.2:c.2157-355A>G;NM_001243133.1:c.2322-355A>G;NM_004895.4:c.2328-355A>G;NM_183395.2:c.2157-355A>G 454808163 189440683 20101123_snps_975393_chr1_247597050 8.88e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247597054C>T;NG_007509.2:g.22580C>T;NM_001079821.2:c.2328-351C>T;NM_001127461.2:c.2328-351C>T;NM_001127462.2:c.2157-351C>T;NM_001243133.1:c.2322-351C>T;NM_004895.4:c.2328-351C>T;NM_183395.2:c.2157-351C>T 454808164 181487854 20101123_snps_975394_chr1_247597054 8.24e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 114548 NC_000001.10:g.247597055G>A;NG_007509.2:g.22581G>A;NM_001079821.2:c.2328-350G>A;NM_001127461.2:c.2328-350G>A;NM_001127462.2:c.2157-350G>A;NM_001243133.1:c.2322-350G>A;NM_004895.4:c.2328-350G>A;NM_183395.2:c.2157-350G>A 35315700 28559821 TA-079.chr1_243923096 2005.03.11 2005.05.24 2011.09.09 137 ABI 114548 NC_000001.10:g.247597055G>A;NG_007509.2:g.22581G>A;NM_001079821.2:c.2328-350G>A;NM_001127461.2:c.2328-350G>A;NM_001127462.2:c.2157-350G>A;NM_001243133.1:c.2322-350G>A;NM_004895.4:c.2328-350G>A;NM_183395.2:c.2157-350G>A 41314576 28559821 hCV33568136 2005.07.17 2005.07.17 2005.05.24 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597055G>A;NG_007509.2:g.22581G>A;NM_001079821.2:c.2328-350G>A;NM_001127461.2:c.2328-350G>A;NM_001127462.2:c.2157-350G>A;NM_001243133.1:c.2322-350G>A;NM_004895.4:c.2328-350G>A;NM_183395.2:c.2157-350G>A 88051283 28559821 JWB-0217801 2008.02.27 2008.02.27 2005.05.24 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247597055delG;NG_007509.2:g.22581delG;NM_001079821.2:c.2328-350delG;NM_001127461.2:c.2328-350delG;NM_001127462.2:c.2157-350delG;NM_001243133.1:c.2322-350delG;NM_004895.4:c.2328-350delG;NM_183395.2:c.2157-350delG 99314226 71642353 INDEL_GP36_2007a_863711_0 2008.05.04 2008.05.04 2009.02.13 2011.07.08 137 ENSEMBL 114548 NC_000001.10:g.247597055G>A;NG_007509.2:g.22581G>A;NM_001079821.2:c.2328-350G>A;NM_001127461.2:c.2328-350G>A;NM_001127462.2:c.2157-350G>A;NM_001243133.1:c.2322-350G>A;NM_004895.4:c.2328-350G>A;NM_183395.2:c.2157-350G>A 138194256 28559821 ENSSNP7349877 2009.05.17 2009.05.17 2005.05.24 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597055G>A;NG_007509.2:g.22581G>A;NM_001079821.2:c.2328-350G>A;NM_001127461.2:c.2328-350G>A;NM_001127462.2:c.2157-350G>A;NM_001243133.1:c.2322-350G>A;NM_004895.4:c.2328-350G>A;NM_183395.2:c.2157-350G>A 165636391 28559821 NA19240_36_chr1_245663678 2009.09.30 2009.09.30 2005.05.24 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597064T>C;NG_007509.2:g.22590T>C;NM_001079821.2:c.2328-341T>C;NM_001127461.2:c.2328-341T>C;NM_001127462.2:c.2157-341T>C;NM_001243133.1:c.2322-341T>C;NM_004895.4:c.2328-341T>C;NM_183395.2:c.2157-341T>C 454808165 183544897 20101123_snps_975395_chr1_247597064 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 114548 NC_000001.10:g.247597085A>T;NG_007509.2:g.22611A>T;NM_001079821.2:c.2328-320A>T;NM_001127461.2:c.2328-320A>T;NM_001127462.2:c.2157-320A>T;NM_001243133.1:c.2322-320A>T;NM_004895.4:c.2328-320A>T;NM_183395.2:c.2157-320A>T 17325855 11799687 CSHL-HuCC-200402.chr1.NT_004836.15_12260449 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247597085A>T;NG_007509.2:g.22611A>T;NM_001079821.2:c.2328-320A>T;NM_001127461.2:c.2328-320A>T;NM_001127462.2:c.2157-320A>T;NM_001243133.1:c.2322-320A>T;NM_004895.4:c.2328-320A>T;NM_183395.2:c.2157-320A>T 41122815 11799687 hCV31451959 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597085A>T;NG_007509.2:g.22611A>T;NM_001079821.2:c.2328-320A>T;NM_001127461.2:c.2328-320A>T;NM_001127462.2:c.2157-320A>T;NM_001243133.1:c.2322-320A>T;NM_004895.4:c.2328-320A>T;NM_183395.2:c.2157-320A>T 161240002 11799687 ENSSNP197698 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597085A>T;NG_007509.2:g.22611A>T;NM_001079821.2:c.2328-320A>T;NM_001127461.2:c.2328-320A>T;NM_001127462.2:c.2157-320A>T;NM_001243133.1:c.2322-320A>T;NM_004895.4:c.2328-320A>T;NM_183395.2:c.2157-320A>T 165636401 11799687 NA19240_36_chr1_245663708 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247597107G>T;NG_007509.2:g.22633G>T;NM_001079821.2:c.2328-298G>T;NM_001127461.2:c.2328-298G>T;NM_001127462.2:c.2157-298G>T;NM_001243133.1:c.2322-298G>T;NM_004895.4:c.2328-298G>T;NM_183395.2:c.2157-298G>T 41339204 34491749 hCV33568137 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597107G>T;NG_007509.2:g.22633G>T;NM_001079821.2:c.2328-298G>T;NM_001127461.2:c.2328-298G>T;NM_001127462.2:c.2157-298G>T;NM_001243133.1:c.2322-298G>T;NM_004895.4:c.2328-298G>T;NM_183395.2:c.2157-298G>T 143103515 34491749 ENSSNP197699 2009.06.05 2010.03.07 2006.03.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597117G>A;NG_007509.2:g.22643G>A;NM_001079821.2:c.2328-288G>A;NM_001127461.2:c.2328-288G>A;NM_001127462.2:c.2157-288G>A;NM_001243133.1:c.2322-288G>A;NM_004895.4:c.2328-288G>A;NM_183395.2:c.2157-288G>A 454808166 188281315 20101123_snps_975396_chr1_247597117 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597122G>A;NG_007509.2:g.22648G>A;NM_001079821.2:c.2328-283G>A;NM_001127461.2:c.2328-283G>A;NM_001127462.2:c.2157-283G>A;NM_001243133.1:c.2322-283G>A;NM_004895.4:c.2328-283G>A;NM_183395.2:c.2157-283G>A 165636410 113788854 NA19240_36_chr1_245663745 6.90e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597122G>A;NG_007509.2:g.22648G>A;NM_001079821.2:c.2328-283G>A;NM_001127461.2:c.2328-283G>A;NM_001127462.2:c.2157-283G>A;NM_001243133.1:c.2322-283G>A;NM_004895.4:c.2328-283G>A;NM_183395.2:c.2157-283G>A 454808167 113788854 20101123_snps_975397_chr1_247597122 6.90e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597138C>T;NG_007509.2:g.22664C>T;NM_001079821.2:c.2328-267C>T;NM_001127461.2:c.2328-267C>T;NM_001127462.2:c.2157-267C>T;NM_001243133.1:c.2322-267C>T;NM_004895.4:c.2328-267C>T;NM_183395.2:c.2157-267C>T 35206026 28491621 TA-079.chr1_243923179 2005.03.11 2005.05.24 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247597139A>G;NG_007509.2:g.22665A>G;NM_001079821.2:c.2328-266A>G;NM_001127461.2:c.2328-266A>G;NM_001127462.2:c.2157-266A>G;NM_001243133.1:c.2322-266A>G;NM_004895.4:c.2328-266A>G;NM_183395.2:c.2157-266A>G 35474581 28681541 TA-079.chr1_243923180 1.59e-01 2005.03.11 2005.05.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597139A>G;NG_007509.2:g.22665A>G;NM_001079821.2:c.2328-266A>G;NM_001127461.2:c.2328-266A>G;NM_001127462.2:c.2157-266A>G;NM_001243133.1:c.2322-266A>G;NM_004895.4:c.2328-266A>G;NM_183395.2:c.2157-266A>G 329363822 28681541 20100804_snps_1007358_chr1_247597139 1.59e-01 2011.03.22 2011.03.22 2005.05.24 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597149T>G;NG_007509.2:g.22675T>G;NM_001079821.2:c.2328-256T>G;NM_001127461.2:c.2328-256T>G;NM_001127462.2:c.2157-256T>G;NM_001243133.1:c.2322-256T>G;NM_004895.4:c.2328-256T>G;NM_183395.2:c.2157-256T>G 139597523 79881253 ENSSNP197700 1.19e-01 2009.05.19 2009.10.16 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597149T>G;NG_007509.2:g.22675T>G;NM_001079821.2:c.2328-256T>G;NM_001127461.2:c.2328-256T>G;NM_001127462.2:c.2157-256T>G;NM_001243133.1:c.2322-256T>G;NM_004895.4:c.2328-256T>G;NM_183395.2:c.2157-256T>G 156563950 79881253 GMI_SNP_175394480 1.19e-01 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597149T>G;NG_007509.2:g.22675T>G;NM_001079821.2:c.2328-256T>G;NM_001127461.2:c.2328-256T>G;NM_001127462.2:c.2157-256T>G;NM_001243133.1:c.2322-256T>G;NM_004895.4:c.2328-256T>G;NM_183395.2:c.2157-256T>G 276310540 79881253 GMI_AK_SNP_630707 1.19e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597149T>G;NG_007509.2:g.22675T>G;NM_001079821.2:c.2328-256T>G;NM_001127461.2:c.2328-256T>G;NM_001127462.2:c.2157-256T>G;NM_001243133.1:c.2322-256T>G;NM_004895.4:c.2328-256T>G;NM_183395.2:c.2157-256T>G 454808168 79881253 20101123_snps_975398_chr1_247597149 1.19e-01 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597150_247597151insA;NG_007509.2:g.22676_22677insA;NM_001079821.2:c.2328-255_2328-254insA;NM_001127461.2:c.2328-255_2328-254insA;NM_001127462.2:c.2157-255_2157-254insA;NM_001243133.1:c.2322-255_2322-254insA;NM_004895.4:c.2328-255_2328-254insA;NM_183395.2:c.2157-255_2157-254insA 499190874 200373688 20110316_indels_chr1_247597150_247597151 1.92e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597155G>A;NG_007509.2:g.22681G>A;NM_001079821.2:c.2328-250G>A;NM_001127461.2:c.2328-250G>A;NM_001127462.2:c.2157-250G>A;NM_001243133.1:c.2322-250G>A;NM_004895.4:c.2328-250G>A;NM_183395.2:c.2157-250G>A 144151058 76469815 ENSSNP5554522 2009.06.06 2009.10.17 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247597160T>C;NG_007509.2:g.22686T>C;NM_001079821.2:c.2328-245T>C;NM_001127461.2:c.2328-245T>C;NM_001127462.2:c.2157-245T>C;NM_001243133.1:c.2322-245T>C;NM_004895.4:c.2328-245T>C;NM_183395.2:c.2157-245T>C 219005676 115747660 pilot_1_YRI_815359_chr1_245663783 1.37e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 114548 NC_000001.10:g.247597161C>T;NG_007509.2:g.22687C>T;NM_001079821.2:c.2328-244C>T;NM_001127461.2:c.2328-244C>T;NM_001127462.2:c.2157-244C>T;NM_001243133.1:c.2322-244C>T;NM_004895.4:c.2328-244C>T;NM_183395.2:c.2157-244C>T 41222386 36114868 hCV33568138 2005.07.17 2005.07.17 2006.03.16 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597161C>T;NG_007509.2:g.22687C>T;NM_001079821.2:c.2328-244C>T;NM_001127461.2:c.2328-244C>T;NM_001127462.2:c.2157-244C>T;NM_001243133.1:c.2322-244C>T;NM_004895.4:c.2328-244C>T;NM_183395.2:c.2157-244C>T 139885917 36114868 ENSSNP7947446 2009.05.19 2009.10.16 2006.03.16 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597180T>C;NG_007509.2:g.22706T>C;NM_001079821.2:c.2328-225T>C;NM_001127461.2:c.2328-225T>C;NM_001127462.2:c.2157-225T>C;NM_001243133.1:c.2322-225T>C;NM_004895.4:c.2328-225T>C;NM_183395.2:c.2157-225T>C 143556658 76911796 ENSSNP8532219 4.53e-02 2009.06.06 2009.10.19 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597180T>C;NG_007509.2:g.22706T>C;NM_001079821.2:c.2328-225T>C;NM_001127461.2:c.2328-225T>C;NM_001127462.2:c.2157-225T>C;NM_001243133.1:c.2322-225T>C;NM_004895.4:c.2328-225T>C;NM_183395.2:c.2157-225T>C 329363826 76911796 20100804_snps_1007362_chr1_247597180 4.53e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597181G>A;NG_007509.2:g.22707G>A;NM_001079821.2:c.2328-224G>A;NM_001127461.2:c.2328-224G>A;NM_001127462.2:c.2157-224G>A;NM_001243133.1:c.2322-224G>A;NM_004895.4:c.2328-224G>A;NM_183395.2:c.2157-224G>A 329363827 148560736 20100804_snps_1007363_chr1_247597181 3.98e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597197A>G;NG_007509.2:g.22723A>G;NM_001079821.2:c.2328-208A>G;NM_001127461.2:c.2328-208A>G;NM_001127462.2:c.2157-208A>G;NM_001243133.1:c.2322-208A>G;NM_004895.4:c.2328-208A>G;NM_183395.2:c.2157-208A>G 142723052 79042548 ENSSNP4711177 2009.06.05 2009.10.16 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597197A>G;NG_007509.2:g.22723A>G;NM_001079821.2:c.2328-208A>G;NM_001127461.2:c.2328-208A>G;NM_001127462.2:c.2157-208A>G;NM_001243133.1:c.2322-208A>G;NM_004895.4:c.2328-208A>G;NM_183395.2:c.2157-208A>G 276310541 79042548 GMI_AK_SNP_630708 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597208T>G;NG_007509.2:g.22734T>G;NM_001079821.2:c.2328-197T>G;NM_001127461.2:c.2328-197T>G;NM_001127462.2:c.2157-197T>G;NM_001243133.1:c.2322-197T>G;NM_004895.4:c.2328-197T>G;NM_183395.2:c.2157-197T>G 165636419 113966299 NA19240_36_chr1_245663831 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597208T>G;NG_007509.2:g.22734T>G;NM_001079821.2:c.2328-197T>G;NM_001127461.2:c.2328-197T>G;NM_001127462.2:c.2157-197T>G;NM_001243133.1:c.2322-197T>G;NM_004895.4:c.2328-197T>G;NM_183395.2:c.2157-197T>G 165961969 113966299 NA07022_36_chr1_245663831 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BL 114548 NC_000001.10:g.247597208T>G;NG_007509.2:g.22734T>G;NM_001079821.2:c.2328-197T>G;NM_001127461.2:c.2328-197T>G;NM_001127462.2:c.2157-197T>G;NM_001243133.1:c.2322-197T>G;NM_004895.4:c.2328-197T>G;NM_183395.2:c.2157-197T>G 253949010 113966299 SNP242670_1_245663831 2010.08.19 2010.08.19 2010.07.04 2012.11.28 137 GMI 114548 NC_000001.10:g.247597208T>G;NG_007509.2:g.22734T>G;NM_001079821.2:c.2328-197T>G;NM_001127461.2:c.2328-197T>G;NM_001127462.2:c.2157-197T>G;NM_001243133.1:c.2322-197T>G;NM_004895.4:c.2328-197T>G;NM_183395.2:c.2157-197T>G 276310542 113966299 GMI_AK_SNP_630709 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597211T>C;NG_007509.2:g.22737T>C;NM_001079821.2:c.2328-194T>C;NM_001127461.2:c.2328-194T>C;NM_001127462.2:c.2157-194T>C;NM_001243133.1:c.2322-194T>C;NM_004895.4:c.2328-194T>C;NM_183395.2:c.2157-194T>C 165636427 112695411 NA19240_36_chr1_245663834 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597211T>C;NG_007509.2:g.22737T>C;NM_001079821.2:c.2328-194T>C;NM_001127461.2:c.2328-194T>C;NM_001127462.2:c.2157-194T>C;NM_001243133.1:c.2322-194T>C;NM_004895.4:c.2328-194T>C;NM_183395.2:c.2157-194T>C 165961971 112695411 NA07022_36_chr1_245663834 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BL 114548 NC_000001.10:g.247597211T>C;NG_007509.2:g.22737T>C;NM_001079821.2:c.2328-194T>C;NM_001127461.2:c.2328-194T>C;NM_001127462.2:c.2157-194T>C;NM_001243133.1:c.2322-194T>C;NM_004895.4:c.2328-194T>C;NM_183395.2:c.2157-194T>C 253949013 112695411 SNP242671_1_245663834 2010.08.19 2010.08.19 2010.07.04 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247597216C>G;NG_007509.2:g.22742C>G;NM_001079821.2:c.2328-189C>G;NM_001127461.2:c.2328-189C>G;NM_001127462.2:c.2157-189C>G;NM_001243133.1:c.2322-189C>G;NM_004895.4:c.2328-189C>G;NM_183395.2:c.2157-189C>G 199903884 113503382 BUSHMAN-chr1-245663838 7.37e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597216C>G;NG_007509.2:g.22742C>G;NM_001079821.2:c.2328-189C>G;NM_001127461.2:c.2328-189C>G;NM_001127462.2:c.2157-189C>G;NM_001243133.1:c.2322-189C>G;NM_004895.4:c.2328-189C>G;NM_183395.2:c.2157-189C>G 454808169 113503382 20101123_snps_975399_chr1_247597216 7.37e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597223G>A;NG_007509.2:g.22749G>A;NM_001079821.2:c.2328-182G>A;NM_001127461.2:c.2328-182G>A;NM_001127462.2:c.2157-182G>A;NM_001243133.1:c.2322-182G>A;NM_004895.4:c.2328-182G>A;NM_183395.2:c.2157-182G>A 165636437 111632834 NA19240_36_chr1_245663846 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597223G>A;NG_007509.2:g.22749G>A;NM_001079821.2:c.2328-182G>A;NM_001127461.2:c.2328-182G>A;NM_001127462.2:c.2157-182G>A;NM_001243133.1:c.2322-182G>A;NM_004895.4:c.2328-182G>A;NM_183395.2:c.2157-182G>A 165961973 111632834 NA07022_36_chr1_245663846 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247597223G>A;NG_007509.2:g.22749G>A;NM_001079821.2:c.2328-182G>A;NM_001127461.2:c.2328-182G>A;NM_001127462.2:c.2157-182G>A;NM_001243133.1:c.2322-182G>A;NM_004895.4:c.2328-182G>A;NM_183395.2:c.2157-182G>A 199903888 111632834 BUSHMAN-chr1-245663845 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 BL 114548 NC_000001.10:g.247597223G>A;NG_007509.2:g.22749G>A;NM_001079821.2:c.2328-182G>A;NM_001127461.2:c.2328-182G>A;NM_001127462.2:c.2157-182G>A;NM_001243133.1:c.2322-182G>A;NM_004895.4:c.2328-182G>A;NM_183395.2:c.2157-182G>A 253949014 111632834 SNP242672_1_245663846 2010.08.19 2010.08.19 2010.07.04 2011.09.09 137 GMI 114548 NC_000001.10:g.247597229C>T;NG_007509.2:g.22755C>T;NM_001079821.2:c.2328-176C>T;NM_001127461.2:c.2328-176C>T;NM_001127462.2:c.2157-176C>T;NM_001243133.1:c.2322-176C>T;NM_004895.4:c.2328-176C>T;NM_183395.2:c.2157-176C>T 276310543 147775898 GMI_AK_SNP_630710 3.98e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597229C>T;NG_007509.2:g.22755C>T;NM_001079821.2:c.2328-176C>T;NM_001127461.2:c.2328-176C>T;NM_001127462.2:c.2157-176C>T;NM_001243133.1:c.2322-176C>T;NM_004895.4:c.2328-176C>T;NM_183395.2:c.2157-176C>T 329363832 147775898 20100804_snps_1007368_chr1_247597229 3.98e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GMI 114548 NC_000001.10:g.247597230T>C;NG_007509.2:g.22756T>C;NM_001079821.2:c.2328-175T>C;NM_001127461.2:c.2328-175T>C;NM_001127462.2:c.2157-175T>C;NM_001243133.1:c.2322-175T>C;NM_004895.4:c.2328-175T>C;NM_183395.2:c.2157-175T>C 276310544 200025791 GMI_AK_SNP_630711 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ENSEMBL 114548 NC_000001.10:g.247597234G>A;NG_007509.2:g.22760G>A;NM_001079821.2:c.2328-171G>A;NM_001127461.2:c.2328-171G>A;NM_001127462.2:c.2157-171G>A;NM_001243133.1:c.2322-171G>A;NM_004895.4:c.2328-171G>A;NM_183395.2:c.2157-171G>A 139838881 78052365 ENSSNP3645431 2009.05.19 2009.10.16 2009.12.01 2011.09.02 137 ENSEMBL 114548 NC_000001.10:g.247597239G>A;NG_007509.2:g.22765G>A;NM_001079821.2:c.2328-166G>A;NM_001127461.2:c.2328-166G>A;NM_001127462.2:c.2157-166G>A;NM_001243133.1:c.2322-166G>A;NM_004895.4:c.2328-166G>A;NM_183395.2:c.2157-166G>A 138194257 78648901 ENSSNP11747559 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597239G>A;NG_007509.2:g.22765G>A;NM_001079821.2:c.2328-166G>A;NM_001127461.2:c.2328-166G>A;NM_001127462.2:c.2157-166G>A;NM_001243133.1:c.2322-166G>A;NM_004895.4:c.2328-166G>A;NM_183395.2:c.2157-166G>A 139345090 78648901 ENSSNP3323213 2009.05.18 2009.10.16 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597239G>A;NG_007509.2:g.22765G>A;NM_001079821.2:c.2328-166G>A;NM_001127461.2:c.2328-166G>A;NM_001127462.2:c.2157-166G>A;NM_001243133.1:c.2322-166G>A;NM_004895.4:c.2328-166G>A;NM_183395.2:c.2157-166G>A 165636444 78648901 NA19240_36_chr1_245663862 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597239G>A;NG_007509.2:g.22765G>A;NM_001079821.2:c.2328-166G>A;NM_001127461.2:c.2328-166G>A;NM_001127462.2:c.2157-166G>A;NM_001243133.1:c.2322-166G>A;NM_004895.4:c.2328-166G>A;NM_183395.2:c.2157-166G>A 167597212 78648901 NA20431_36_chr1_245663862 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247597245T>C;NG_007509.2:g.22771T>C;NM_001079821.2:c.2328-160T>C;NM_001127461.2:c.2328-160T>C;NM_001127462.2:c.2157-160T>C;NM_001243133.1:c.2322-160T>C;NM_004895.4:c.2328-160T>C;NM_183395.2:c.2157-160T>C 199903892 111373572 BUSHMAN-chr1-245663867 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597250T>G;NG_007509.2:g.22776T>G;NM_001079821.2:c.2328-155T>G;NM_001127461.2:c.2328-155T>G;NM_001127462.2:c.2157-155T>G;NM_001243133.1:c.2322-155T>G;NM_004895.4:c.2328-155T>G;NM_183395.2:c.2157-155T>G 167597214 113427259 NA20431_36_chr1_245663873 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597253T>C;NG_007509.2:g.22779T>C;NM_001079821.2:c.2328-152T>C;NM_001127461.2:c.2328-152T>C;NM_001127462.2:c.2157-152T>C;NM_001243133.1:c.2322-152T>C;NM_004895.4:c.2328-152T>C;NM_183395.2:c.2157-152T>C 167597216 113973071 NA20431_36_chr1_245663876 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 18111867 10802498 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12260622 3.69e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 18197043 10802498 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12260622 3.69e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 18286563 10802498 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260622 3.69e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 20454603 10802498 WGSA-200403-chr1.chr1.NT_004836.15_12260622 3.69e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 98020145 10802498 1103675395139 3.69e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 138194258 10802498 ENSSNP11747560 3.69e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 143390458 10802498 ENSSNP9678995 3.69e-01 2009.06.06 2009.10.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 156563957 10802498 GMI_SNP_117713201 3.69e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 159922930 10802498 HumanOmni1-Quad_v1-0_B_rs10802498-128_T_R_1574052722 3.69e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 167597218 10802498 NA20431_36_chr1_245663881 3.69e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 199903896 10802498 BUSHMAN-chr1-245663880 3.69e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 253949019 10802498 SNP242673_1_245663881 3.69e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 276310545 10802498 GMI_AK_SNP_630712 3.69e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 329363835 10802498 20100804_snps_1007371_chr1_247597258 3.69e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597258G>C;NG_007509.2:g.22784G>C;NM_001079821.2:c.2328-147G>C;NM_001127461.2:c.2328-147G>C;NM_001127462.2:c.2157-147G>C;NM_001243133.1:c.2322-147G>C;NM_004895.4:c.2328-147G>C;NM_183395.2:c.2157-147G>C 479757661 10802498 HumanOmni1-Quad_v1-0_C_rs10802498-131_T_R_1863288650 3.69e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247597264C>T;NG_007509.2:g.22790C>T;NM_001079821.2:c.2328-141C>T;NM_001127461.2:c.2328-141C>T;NM_001127462.2:c.2157-141C>T;NM_001243133.1:c.2322-141C>T;NM_004895.4:c.2328-141C>T;NM_183395.2:c.2157-141C>T 156563964 79053406 GMI_SNP_355553530 1.16e-01 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597264C>T;NG_007509.2:g.22790C>T;NM_001079821.2:c.2328-141C>T;NM_001127461.2:c.2328-141C>T;NM_001127462.2:c.2157-141C>T;NM_001243133.1:c.2322-141C>T;NM_004895.4:c.2328-141C>T;NM_183395.2:c.2157-141C>T 199903900 79053406 BUSHMAN-chr1-245663886 1.16e-01 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 BL 114548 NC_000001.10:g.247597264C>T;NG_007509.2:g.22790C>T;NM_001079821.2:c.2328-141C>T;NM_001127461.2:c.2328-141C>T;NM_001127462.2:c.2157-141C>T;NM_001243133.1:c.2322-141C>T;NM_004895.4:c.2328-141C>T;NM_183395.2:c.2157-141C>T 253949022 79053406 SNP242674_1_245663887 1.16e-01 2010.08.19 2010.08.19 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597264C>T;NG_007509.2:g.22790C>T;NM_001079821.2:c.2328-141C>T;NM_001127461.2:c.2328-141C>T;NM_001127462.2:c.2157-141C>T;NM_001243133.1:c.2322-141C>T;NM_004895.4:c.2328-141C>T;NM_183395.2:c.2157-141C>T 276310546 79053406 GMI_AK_SNP_630713 1.16e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597264C>T;NG_007509.2:g.22790C>T;NM_001079821.2:c.2328-141C>T;NM_001127461.2:c.2328-141C>T;NM_001127462.2:c.2157-141C>T;NM_001243133.1:c.2322-141C>T;NM_004895.4:c.2328-141C>T;NM_183395.2:c.2157-141C>T 329363836 79053406 20100804_snps_1007372_chr1_247597264 1.16e-01 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597265G>A;NG_007509.2:g.22791G>A;NM_001079821.2:c.2328-140G>A;NM_001127461.2:c.2328-140G>A;NM_001127462.2:c.2157-140G>A;NM_001243133.1:c.2322-140G>A;NM_004895.4:c.2328-140G>A;NM_183395.2:c.2157-140G>A 167597220 111944966 NA20431_36_chr1_245663888 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597271C>T;NG_007509.2:g.22797C>T;NM_001079821.2:c.2328-134C>T;NM_001127461.2:c.2328-134C>T;NM_001127462.2:c.2157-134C>T;NM_001243133.1:c.2322-134C>T;NM_004895.4:c.2328-134C>T;NM_183395.2:c.2157-134C>T 18258685 12124856 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260635 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 ENSEMBL 114548 NC_000001.10:g.247597271C>T;NG_007509.2:g.22797C>T;NM_001079821.2:c.2328-134C>T;NM_001127461.2:c.2328-134C>T;NM_001127462.2:c.2157-134C>T;NM_001243133.1:c.2322-134C>T;NM_004895.4:c.2328-134C>T;NM_183395.2:c.2157-134C>T 138194259 12124856 ENSSNP11747561 2009.05.17 2009.05.17 2004.02.28 2011.07.08 137 ENSEMBL 114548 NC_000001.10:g.247597271C>T;NG_007509.2:g.22797C>T;NM_001079821.2:c.2328-134C>T;NM_001127461.2:c.2328-134C>T;NM_001127462.2:c.2157-134C>T;NM_001243133.1:c.2322-134C>T;NM_004895.4:c.2328-134C>T;NM_183395.2:c.2157-134C>T 142679442 12124856 ENSSNP9357526 2009.06.05 2009.10.16 2004.02.28 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247597272T>C;NG_007509.2:g.22798T>C;NM_001079821.2:c.2328-133T>C;NM_001127461.2:c.2328-133T>C;NM_001127462.2:c.2157-133T>C;NM_001243133.1:c.2322-133T>C;NM_004895.4:c.2328-133T>C;NM_183395.2:c.2157-133T>C 18293867 12143628 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260636 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 ENSEMBL 114548 NC_000001.10:g.247597272T>C;NG_007509.2:g.22798T>C;NM_001079821.2:c.2328-133T>C;NM_001127461.2:c.2328-133T>C;NM_001127462.2:c.2157-133T>C;NM_001243133.1:c.2322-133T>C;NM_004895.4:c.2328-133T>C;NM_183395.2:c.2157-133T>C 139540908 12143628 ENSSNP3452577 2009.05.19 2009.10.16 2004.02.28 2011.07.08 137 GMI 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 156563969 77795397 GMI_SNP_71583078 4.79e-01 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 167597222 77795397 NA20431_36_chr1_245663899 4.79e-01 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 199903904 77795397 BUSHMAN-chr1-245663898 4.79e-01 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 219005677 77795397 pilot_1_YRI_815360_chr1_245663899 4.79e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 230995478 77795397 pilot_1_CEU_600107_chr1_245663899 4.79e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 253949025 77795397 SNP242675_1_245663899 4.79e-01 2010.08.19 2010.08.19 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597276A>G;NG_007509.2:g.22802A>G;NM_001079821.2:c.2328-129A>G;NM_001127461.2:c.2328-129A>G;NM_001127462.2:c.2157-129A>G;NM_001243133.1:c.2322-129A>G;NM_004895.4:c.2328-129A>G;NM_183395.2:c.2157-129A>G 276310547 77795397 GMI_AK_SNP_630714 4.79e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 18244812 12117378 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260645 2.48e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 20452674 12117378 WGSA-200403-chr1.chr1.NT_004836.15_12260645 2.48e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 138194260 12117378 ENSSNP11747562 2.48e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 156563978 12117378 GMI_SNP_151271097 2.48e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 161240004 12117378 ENSSNP197701 2.48e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 219005678 12117378 pilot_1_YRI_815361_chr1_245663904 2.48e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 230995479 12117378 pilot_1_CEU_600108_chr1_245663904 2.48e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597281A>G;NG_007509.2:g.22807A>G;NM_001079821.2:c.2328-124A>G;NM_001127461.2:c.2328-124A>G;NM_001127462.2:c.2157-124A>G;NM_001243133.1:c.2322-124A>G;NM_004895.4:c.2328-124A>G;NM_183395.2:c.2157-124A>G 276310548 12117378 GMI_AK_SNP_630715 2.48e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597287T>C;NG_007509.2:g.22813T>C;NM_001079821.2:c.2328-118T>C;NM_001127461.2:c.2328-118T>C;NM_001127462.2:c.2157-118T>C;NM_001243133.1:c.2322-118T>C;NM_004895.4:c.2328-118T>C;NM_183395.2:c.2157-118T>C 329363837 144771376 20100804_snps_1007373_chr1_247597287 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597297T>C;NG_007509.2:g.22823T>C;NM_001079821.2:c.2328-108T>C;NM_001127461.2:c.2328-108T>C;NM_001127462.2:c.2157-108T>C;NM_001243133.1:c.2322-108T>C;NM_004895.4:c.2328-108T>C;NM_183395.2:c.2157-108T>C 18293871 12143631 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260661 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247597297T>C;NG_007509.2:g.22823T>C;NM_001079821.2:c.2328-108T>C;NM_001127461.2:c.2328-108T>C;NM_001127462.2:c.2157-108T>C;NM_001243133.1:c.2322-108T>C;NM_004895.4:c.2328-108T>C;NM_183395.2:c.2157-108T>C 20550881 12143631 WGSA-200403-chr1.chr1.NT_004836.15_12260661 2004.03.18 2004.03.18 2004.02.28 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597297T>C;NG_007509.2:g.22823T>C;NM_001079821.2:c.2328-108T>C;NM_001127461.2:c.2328-108T>C;NM_001127462.2:c.2157-108T>C;NM_001243133.1:c.2322-108T>C;NM_004895.4:c.2328-108T>C;NM_183395.2:c.2157-108T>C 143902679 12143631 ENSSNP197702 2009.06.06 2009.10.20 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597300C>G;NG_007509.2:g.22826C>G;NM_001079821.2:c.2328-105C>G;NM_001127461.2:c.2328-105C>G;NM_001127462.2:c.2157-105C>G;NM_001243133.1:c.2322-105C>G;NM_004895.4:c.2328-105C>G;NM_183395.2:c.2157-105C>G 329363838 138345722 20100804_snps_1007374_chr1_247597300 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597302A>G;NG_007509.2:g.22828A>G;NM_001079821.2:c.2328-103A>G;NM_001127461.2:c.2328-103A>G;NM_001127462.2:c.2157-103A>G;NM_001243133.1:c.2322-103A>G;NM_004895.4:c.2328-103A>G;NM_183395.2:c.2157-103A>G 138194261 80316563 ENSSNP11747563 2009.05.17 2009.05.17 2009.12.01 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247597306C>T;NG_007509.2:g.22832C>T;NM_001079821.2:c.2328-99C>T;NM_001127461.2:c.2328-99C>T;NM_001127462.2:c.2157-99C>T;NM_001243133.1:c.2322-99C>T;NM_004895.4:c.2328-99C>T;NM_183395.2:c.2157-99C>T 18084961 10925020 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12260670 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247597306C>T;NG_007509.2:g.22832C>T;NM_001079821.2:c.2328-99C>T;NM_001127461.2:c.2328-99C>T;NM_001127462.2:c.2157-99C>T;NM_001243133.1:c.2322-99C>T;NM_004895.4:c.2328-99C>T;NM_183395.2:c.2157-99C>T 18258697 10925020 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260670 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597306C>T;NG_007509.2:g.22832C>T;NM_001079821.2:c.2328-99C>T;NM_001127461.2:c.2328-99C>T;NM_001127462.2:c.2157-99C>T;NM_001243133.1:c.2322-99C>T;NM_004895.4:c.2328-99C>T;NM_183395.2:c.2157-99C>T 20453397 10925020 WGSA-200403-chr1.chr1.NT_004836.15_12260670 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597306C>T;NG_007509.2:g.22832C>T;NM_001079821.2:c.2328-99C>T;NM_001127461.2:c.2328-99C>T;NM_001127462.2:c.2157-99C>T;NM_001243133.1:c.2322-99C>T;NM_004895.4:c.2328-99C>T;NM_183395.2:c.2157-99C>T 138194262 10925020 ENSSNP11747564 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597306C>T;NG_007509.2:g.22832C>T;NM_001079821.2:c.2328-99C>T;NM_001127461.2:c.2328-99C>T;NM_001127462.2:c.2157-99C>T;NM_001243133.1:c.2322-99C>T;NM_004895.4:c.2328-99C>T;NM_183395.2:c.2157-99C>T 143592717 10925020 ENSSNP197703 2009.06.06 2009.10.19 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597313T>C;NG_007509.2:g.22839T>C;NM_001079821.2:c.2328-92T>C;NM_001127461.2:c.2328-92T>C;NM_001127462.2:c.2157-92T>C;NM_001243133.1:c.2322-92T>C;NM_004895.4:c.2328-92T>C;NM_183395.2:c.2157-92T>C 138194263 79889383 ENSSNP11747565 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 HGSV 114548 NC_000001.10:g.247597314C>T;NG_007509.2:g.22840C>T;NM_001079821.2:c.2328-91C>T;NM_001127461.2:c.2328-91C>T;NM_001127462.2:c.2157-91C>T;NM_001243133.1:c.2322-91C>T;NM_004895.4:c.2328-91C>T;NM_183395.2:c.2157-91C>T 77460658 55687367 Cor12156_SNV_20070510.chr1_243923355 2007.10.13 2007.10.13 2007.12.06 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597314C>T;NG_007509.2:g.22840C>T;NM_001079821.2:c.2328-91C>T;NM_001127461.2:c.2328-91C>T;NM_001127462.2:c.2157-91C>T;NM_001243133.1:c.2322-91C>T;NM_004895.4:c.2328-91C>T;NM_183395.2:c.2157-91C>T 138194264 55687367 ENSSNP11747566 2009.05.17 2009.05.17 2007.12.06 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597318A>G;NG_007509.2:g.22844A>G;NM_001079821.2:c.2328-87A>G;NM_001127461.2:c.2328-87A>G;NM_001127462.2:c.2157-87A>G;NM_001243133.1:c.2322-87A>G;NM_004895.4:c.2328-87A>G;NM_183395.2:c.2157-87A>G 138194265 74997528 ENSSNP11747567 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597322G>A;NG_007509.2:g.22848G>A;NM_001079821.2:c.2328-83G>A;NM_001127461.2:c.2328-83G>A;NM_001127462.2:c.2157-83G>A;NM_001243133.1:c.2322-83G>A;NM_004895.4:c.2328-83G>A;NM_183395.2:c.2157-83G>A 329363839 142837840 20100804_snps_1007375_chr1_247597322 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 18111880 10925021 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12260687 2004.02.20 2004.03.04 2004.02.27 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 18286576 10925021 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260687 2004.02.20 2004.03.04 2004.02.27 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 20454746 10925021 WGSA-200403-chr1.chr1.NT_004836.15_12260687 2004.03.18 2004.03.18 2004.02.27 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 98020147 10925021 1103675395141 2008.03.30 2008.03.30 2004.02.27 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 138194266 10925021 ENSSNP11747568 2009.05.17 2009.05.17 2004.02.27 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597323G>A;NG_007509.2:g.22849G>A;NM_001079821.2:c.2328-82G>A;NM_001127461.2:c.2328-82G>A;NM_001127462.2:c.2157-82G>A;NM_001243133.1:c.2322-82G>A;NM_004895.4:c.2328-82G>A;NM_183395.2:c.2157-82G>A 143702121 10925021 ENSSNP197704 2009.06.06 2009.10.19 2004.02.27 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 18258704 12124866 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260693 5.63e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 20453435 12124866 WGSA-200403-chr1.chr1.NT_004836.15_12260693 5.63e-02 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 88051286 12124866 JWB-0217802 5.63e-02 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 98020146 12124866 1103675395140 5.63e-02 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 106647977 12124866 BGI_rs12124866 5.63e-02 2008.09.17 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 109136525 12124866 CEU.trio.12.15.2008_293432_chr1_245663952 5.63e-02 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 119287760 12124866 NA18507_000265606_NCBI36.1_chr1_245663952 5.63e-02 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 138194267 12124866 ENSSNP6251031 5.63e-02 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 139810486 12124866 ENSSNP197705 5.63e-02 2009.05.19 2009.10.16 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 156563983 12124866 GMI_SNP_36650312 5.63e-02 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 165636454 12124866 NA19240_36_chr1_245663952 5.63e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 165961978 12124866 NA07022_36_chr1_245663952 5.63e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 167597224 12124866 NA20431_36_chr1_245663952 5.63e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 199903908 12124866 BUSHMAN-chr1-245663951 5.63e-02 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 205065114 12124866 BCM_CMT_1011-13361 5.63e-02 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 219005679 12124866 pilot_1_YRI_815362_chr1_245663952 5.63e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 230995481 12124866 pilot_1_CEU_600110_chr1_245663952 5.63e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 253949028 12124866 SNP242676_1_245663952 5.63e-02 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 276310549 12124866 GMI_AK_SNP_630716 5.63e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247597329C>T;NG_007509.2:g.22855C>T;NM_001079821.2:c.2328-76C>T;NM_001127461.2:c.2328-76C>T;NM_001127462.2:c.2157-76C>T;NM_001243133.1:c.2322-76C>T;NM_004895.4:c.2328-76C>T;NM_183395.2:c.2157-76C>T 290789446 12124866 SNP_295804_chr1_245663952 5.63e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597334T>G;NG_007509.2:g.22860T>G;NM_001079821.2:c.2328-71T>G;NM_001127461.2:c.2328-71T>G;NM_001127462.2:c.2157-71T>G;NM_001243133.1:c.2322-71T>G;NM_004895.4:c.2328-71T>G;NM_183395.2:c.2157-71T>G 138194268 75201011 ENSSNP11747570 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597337T>C;NG_007509.2:g.22863T>C;NM_001079821.2:c.2328-68T>C;NM_001127461.2:c.2328-68T>C;NM_001127462.2:c.2157-68T>C;NM_001243133.1:c.2322-68T>C;NM_004895.4:c.2328-68T>C;NM_183395.2:c.2157-68T>C 138194269 76317059 ENSSNP11747571 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597339C>T;NG_007509.2:g.22865C>T;NM_001079821.2:c.2328-66C>T;NM_001127461.2:c.2328-66C>T;NM_001127462.2:c.2157-66C>T;NM_001243133.1:c.2322-66C>T;NM_004895.4:c.2328-66C>T;NM_183395.2:c.2157-66C>T 138194270 77719569 ENSSNP11747572 2009.05.17 2009.05.17 2009.12.01 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597344G>A;NG_007509.2:g.22870G>A;NM_001079821.2:c.2328-61G>A;NM_001127461.2:c.2328-61G>A;NM_001127462.2:c.2157-61G>A;NM_001243133.1:c.2322-61G>A;NM_004895.4:c.2328-61G>A;NM_183395.2:c.2157-61G>A 88051288 61841186 JWB-2759467 2008.02.27 2008.02.27 2008.03.24 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597344G>A;NG_007509.2:g.22870G>A;NM_001079821.2:c.2328-61G>A;NM_001127461.2:c.2328-61G>A;NM_001127462.2:c.2157-61G>A;NM_001243133.1:c.2322-61G>A;NM_004895.4:c.2328-61G>A;NM_183395.2:c.2157-61G>A 138194271 61841186 ENSSNP11747573 2009.05.17 2009.05.17 2008.03.24 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247597348T>C;NG_007509.2:g.22874T>C;NM_001079821.2:c.2328-57T>C;NM_001127461.2:c.2328-57T>C;NM_001127462.2:c.2157-57T>C;NM_001243133.1:c.2322-57T>C;NM_004895.4:c.2328-57T>C;NM_183395.2:c.2157-57T>C 138194272 80093553 ENSSNP11747574 2009.05.17 2009.05.17 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597348T>C;NG_007509.2:g.22874T>C;NM_001079821.2:c.2328-57T>C;NM_001127461.2:c.2328-57T>C;NM_001127462.2:c.2157-57T>C;NM_001243133.1:c.2322-57T>C;NM_004895.4:c.2328-57T>C;NM_183395.2:c.2157-57T>C 276310550 80093553 GMI_AK_SNP_630717 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597349G>A;NG_007509.2:g.22875G>A;NM_001079821.2:c.2328-56G>A;NM_001127461.2:c.2328-56G>A;NM_001127462.2:c.2157-56G>A;NM_001243133.1:c.2322-56G>A;NM_004895.4:c.2328-56G>A;NM_183395.2:c.2157-56G>A 138194273 75241539 ENSSNP11747575 2009.05.17 2009.05.17 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247597349G>A;NG_007509.2:g.22875G>A;NM_001079821.2:c.2328-56G>A;NM_001127461.2:c.2328-56G>A;NM_001127462.2:c.2157-56G>A;NM_001243133.1:c.2322-56G>A;NM_004895.4:c.2328-56G>A;NM_183395.2:c.2157-56G>A 276310551 75241539 GMI_AK_SNP_630718 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597350_247597351insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NG_007509.2:g.22876_22877insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001079821.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127461.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127462.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001243133.1:c.2322-55_2322-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_004895.4:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_183395.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA 99687057 66844130 INDEL_GP36_2007a_927750_0 2008.05.05 2008.05.05 2009.02.04 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247597350_247597351insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NG_007509.2:g.22876_22877insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001079821.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127461.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127462.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001243133.1:c.2322-55_2322-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_004895.4:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_183395.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA 101526640 66844130 INDEL_GP36_2008a_927750_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247597350_247597351insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NG_007509.2:g.22876_22877insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001079821.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127461.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127462.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001243133.1:c.2322-55_2322-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_004895.4:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_183395.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA 101526643 66844130 INDEL_GP36_2008a_927750_2 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247597350_247597351insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NG_007509.2:g.22876_22877insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001079821.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127461.2:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001127462.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_001243133.1:c.2322-55_2322-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_004895.4:c.2328-55_2328-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA;NM_183395.2:c.2157-55_2157-54insGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCA 101526646 66844130 INDEL_GP36_2008a_927750_3 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 18111932 10925022 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12260729 6.36e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 18286638 10925022 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12260729 6.36e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 20455397 10925022 WGSA-200403-chr1.chr1.NT_004836.15_12260729 6.36e-02 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 88051290 10925022 JWB-0217803 6.36e-02 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 106647978 10925022 BGI_rs10925022 6.36e-02 2008.09.17 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 109136530 10925022 CEU.trio.12.15.2008_293433_chr1_245663988 6.36e-02 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 112114518 10925022 NA19240_2008_12_16_266129_chr1_245663988 6.36e-02 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 119287762 10925022 NA18507_000265607_NCBI36.1_chr1_245663988 6.36e-02 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 133760261 10925022 ENSSNP197706 6.36e-02 2009.05.12 2009.10.14 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 138194274 10925022 ENSSNP5748542 6.36e-02 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 156563991 10925022 GMI_SNP_37591753 6.36e-02 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 199903912 10925022 BUSHMAN-chr1-245663987 6.36e-02 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 205130816 10925022 BCM_CMT_1011-45281 6.36e-02 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 219005681 10925022 pilot_1_YRI_815364_chr1_245663988 6.36e-02 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 230995484 10925022 pilot_1_CEU_600113_chr1_245663988 6.36e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 238590454 10925022 pilot_1_CHB+JPT_475531_chr1_245663988 6.36e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 253949031 10925022 SNP242677_1_245663988 6.36e-02 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 276310552 10925022 GMI_AK_SNP_630719 6.36e-02 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 290789447 10925022 SNP_295805_chr1_245663988 6.36e-02 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 482298421 10925022 HumanOmni2.5-4v1_B_SNP1-245663988-0_B_R_1631733905 6.36e-02 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 484303621 10925022 HumanOmni2.5-4v1_D_kgp9600833-0_B_R_1818562293 6.36e-02 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 489800522 10925022 20110521_exome_333984_chr1_247597365 6.36e-02 2012.02.15 2012.02.21 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 491238229 10925022 chr1_245663988 6.36e-02 2012.03.02 2012.03.02 2004.02.27 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247597365G>A;NG_007509.2:g.22891G>A;NM_001079821.2:c.2328-40G>A;NM_001127461.2:c.2328-40G>A;NM_001127462.2:c.2157-40G>A;NM_001243133.1:c.2322-40G>A;NM_004895.4:c.2328-40G>A;NM_183395.2:c.2157-40G>A 491619255 10925022 SNV-chr1-245663988 6.36e-02 2012.03.06 2012.03.12 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597371T>C;NG_007509.2:g.22897T>C;NM_001079821.2:c.2328-34T>C;NM_001127461.2:c.2328-34T>C;NM_001127462.2:c.2157-34T>C;NM_001243133.1:c.2322-34T>C;NM_004895.4:c.2328-34T>C;NM_183395.2:c.2157-34T>C 491238230 202048088 chr1_245663994 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597375_247597376insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NG_007509.2:g.22901_22902insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001079821.2:c.2328-30_2328-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001127461.2:c.2328-30_2328-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001127462.2:c.2157-30_2157-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001243133.1:c.2322-30_2322-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_004895.4:c.2328-30_2328-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_183395.2:c.2157-30_2157-29insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA 95261588 74163771 1104685304932 2008.03.21 2008.12.02 2009.02.15 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247597376_247597377insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NG_007509.2:g.22902_22903insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001079821.2:c.2328-29_2328-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001127461.2:c.2328-29_2328-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001127462.2:c.2157-29_2157-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_001243133.1:c.2322-29_2322-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_004895.4:c.2328-29_2328-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA;NM_183395.2:c.2157-29_2157-28insGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGA 99640882 71727511 INDEL_GP36_2007a_910319_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 BL 114548 NC_000001.10:g.247597376T>G;NG_007509.2:g.22902T>G;NM_001079821.2:c.2328-29T>G;NM_001127461.2:c.2328-29T>G;NM_001127462.2:c.2157-29T>G;NM_001243133.1:c.2322-29T>G;NM_004895.4:c.2328-29T>G;NM_183395.2:c.2157-29T>G 253949034 116630346 SNP242678_1_245663999 2010.08.19 2010.08.19 2010.07.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247597376T>G;NG_007509.2:g.22902T>G;NM_001079821.2:c.2328-29T>G;NM_001127461.2:c.2328-29T>G;NM_001127462.2:c.2157-29T>G;NM_001243133.1:c.2322-29T>G;NM_004895.4:c.2328-29T>G;NM_183395.2:c.2157-29T>G 276310553 116630346 GMI_AK_SNP_630720 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597376T>G;NG_007509.2:g.22902T>G;NM_001079821.2:c.2328-29T>G;NM_001127461.2:c.2328-29T>G;NM_001127462.2:c.2157-29T>G;NM_001243133.1:c.2322-29T>G;NM_004895.4:c.2328-29T>G;NM_183395.2:c.2157-29T>G 491238231 116630346 chr1_245663999 2012.03.02 2012.03.02 2010.07.14 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247597376T>G;NG_007509.2:g.22902T>G;NM_001079821.2:c.2328-29T>G;NM_001127461.2:c.2328-29T>G;NM_001127462.2:c.2157-29T>G;NM_001243133.1:c.2322-29T>G;NM_004895.4:c.2328-29T>G;NM_183395.2:c.2157-29T>G 491619256 116630346 SNV-chr1-245663999 2012.03.06 2012.03.12 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597377G>A;NG_007509.2:g.22903G>A;NM_001079821.2:c.2328-28G>A;NM_001127461.2:c.2328-28G>A;NM_001127462.2:c.2157-28G>A;NM_001243133.1:c.2322-28G>A;NM_004895.4:c.2328-28G>A;NM_183395.2:c.2157-28G>A 491238232 201144528 chr1_245664000 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 BL 114548 NC_000001.10:g.247597379T>C;NG_007509.2:g.22905T>C;NM_001079821.2:c.2328-26T>C;NM_001127461.2:c.2328-26T>C;NM_001127462.2:c.2157-26T>C;NM_001243133.1:c.2322-26T>C;NM_004895.4:c.2328-26T>C;NM_183395.2:c.2157-26T>C 253949037 150657385 SNP242679_1_245664002 2010.08.19 2010.08.19 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247597379T>C;NG_007509.2:g.22905T>C;NM_001079821.2:c.2328-26T>C;NM_001127461.2:c.2328-26T>C;NM_001127462.2:c.2157-26T>C;NM_001243133.1:c.2322-26T>C;NM_004895.4:c.2328-26T>C;NM_183395.2:c.2157-26T>C 491619257 150657385 SNV-chr1-245664002 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597397G>C;NG_007509.2:g.22923G>C;NM_001079821.2:c.2328-8G>C;NM_001127461.2:c.2328-8G>C;NM_001127462.2:c.2157-8G>C;NM_001243133.1:c.2322-8G>C;NM_004895.4:c.2328-8G>C;NM_183395.2:c.2157-8G>C 491238233 201732444 chr1_245664020 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597416G>A;NG_007509.2:g.22942G>A;NM_001079821.2:c.2339G>A;NM_001127461.2:c.2339G>A;NM_001127462.2:c.2168G>A;NM_001243133.1:c.2333G>A;NM_004895.4:c.2339G>A;NM_183395.2:c.2168G>A;NP_001073289.1:p.Cys780Tyr;NP_001120933.1:p.Cys780Tyr;NP_001120934.1:p.Cys723Tyr;NP_001230062.1:p.Cys778Tyr;NP_004886.3:p.Cys780Tyr;NP_899632.1:p.Cys723Tyr 491238234 200096573 chr1_245664039 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597417T>C;NG_007509.2:g.22943T>C;NM_001079821.2:c.2340T>C;NM_001127461.2:c.2340T>C;NM_001127462.2:c.2169T>C;NM_001243133.1:c.2334T>C;NM_004895.4:c.2340T>C;NM_183395.2:c.2169T>C;NP_001073289.1:p.Cys780=;NP_001120933.1:p.Cys780=;NP_001120934.1:p.Cys723=;NP_001230062.1:p.Cys778=;NP_004886.3:p.Cys780=;NP_899632.1:p.Cys723= 491238235 201206582 chr1_245664040 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247597420C>G;NG_007509.2:g.22946C>G;NM_001079821.2:c.2343C>G;NM_001127461.2:c.2343C>G;NM_001127462.2:c.2172C>G;NM_001243133.1:c.2337C>G;NM_004895.4:c.2343C>G;NM_183395.2:c.2172C>G;NP_001073289.1:p.Gly781=;NP_001120933.1:p.Gly781=;NP_001120934.1:p.Gly724=;NP_001230062.1:p.Gly779=;NP_004886.3:p.Gly781=;NP_899632.1:p.Gly724= 342040931 144785804 ESP2500-chr1-247597420 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247597425C>T;NG_007509.2:g.22951C>T;NM_001079821.2:c.2348C>T;NM_001127461.2:c.2348C>T;NM_001127462.2:c.2177C>T;NM_001243133.1:c.2342C>T;NM_004895.4:c.2348C>T;NM_183395.2:c.2177C>T;NP_001073289.1:p.Ser783Leu;NP_001120933.1:p.Ser783Leu;NP_001120934.1:p.Ser726Leu;NP_001230062.1:p.Ser781Leu;NP_004886.3:p.Ser783Leu;NP_899632.1:p.Ser726Leu 491238236 201969526 chr1_245664048 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247597435C>T;NG_007509.2:g.22961C>T;NM_001079821.2:c.2358C>T;NM_001127461.2:c.2358C>T;NM_001127462.2:c.2187C>T;NM_001243133.1:c.2352C>T;NM_004895.4:c.2358C>T;NM_183395.2:c.2187C>T;NP_001073289.1:p.Cys786=;NP_001120933.1:p.Cys786=;NP_001120934.1:p.Cys729=;NP_001230062.1:p.Cys784=;NP_004886.3:p.Cys786=;NP_899632.1:p.Cys729= 488705579 199999020 20110521_exome_29266_chr1_247597435 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597442G>A;NG_007509.2:g.22968G>A;NM_001079821.2:c.2365G>A;NM_001127461.2:c.2365G>A;NM_001127462.2:c.2194G>A;NM_001243133.1:c.2359G>A;NM_004895.4:c.2365G>A;NM_183395.2:c.2194G>A;NP_001073289.1:p.Asp789Asn;NP_001120933.1:p.Asp789Asn;NP_001120934.1:p.Asp732Asn;NP_001230062.1:p.Asp787Asn;NP_004886.3:p.Asp789Asn;NP_899632.1:p.Asp732Asn 488705581 201814076 20110521_exome_29267_chr1_247597442 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597442G>A;NG_007509.2:g.22968G>A;NM_001079821.2:c.2365G>A;NM_001127461.2:c.2365G>A;NM_001127462.2:c.2194G>A;NM_001243133.1:c.2359G>A;NM_004895.4:c.2365G>A;NM_183395.2:c.2194G>A;NP_001073289.1:p.Asp789Asn;NP_001120933.1:p.Asp789Asn;NP_001120934.1:p.Asp732Asn;NP_001230062.1:p.Asp787Asn;NP_004886.3:p.Asp789Asn;NP_899632.1:p.Asp732Asn 491238237 201814076 chr1_245664065 9.00e-04 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247597494G>A;NG_007509.2:g.23020G>A;NM_001079821.2:c.2417G>A;NM_001127461.2:c.2417G>A;NM_001127462.2:c.2246G>A;NM_001243133.1:c.2411G>A;NM_004895.4:c.2417G>A;NM_183395.2:c.2246G>A;NP_001073289.1:p.Ser806Asn;NP_001120933.1:p.Ser806Asn;NP_001120934.1:p.Ser749Asn;NP_001230062.1:p.Ser804Asn;NP_004886.3:p.Ser806Asn;NP_899632.1:p.Ser749Asn 342040933 149331727 ESP2500-chr1-247597494 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247597502G>A;NG_007509.2:g.23028G>A;NM_001079821.2:c.2425G>A;NM_001127461.2:c.2425G>A;NM_001127462.2:c.2254G>A;NM_001243133.1:c.2419G>A;NM_004895.4:c.2425G>A;NM_183395.2:c.2254G>A;NP_001073289.1:p.Ala809Thr;NP_001120933.1:p.Ala809Thr;NP_001120934.1:p.Ala752Thr;NP_001230062.1:p.Ala807Thr;NP_004886.3:p.Ala809Thr;NP_899632.1:p.Ala752Thr 491238238 201096167 chr1_245664125 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247597503C>A;NG_007509.2:g.23029C>A;NM_001079821.2:c.2426C>A;NM_001127461.2:c.2426C>A;NM_001127462.2:c.2255C>A;NM_001243133.1:c.2420C>A;NM_004895.4:c.2426C>A;NM_183395.2:c.2255C>A;NP_001073289.1:p.Ala809Asp;NP_001120933.1:p.Ala809Asp;NP_001120934.1:p.Ala752Asp;NP_001230062.1:p.Ala807Asp;NP_004886.3:p.Ala809Asp;NP_899632.1:p.Ala752Asp 342040934 143438018 ESP2500-chr1-247597503 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 114548 NC_000001.10:g.247597507C>T;NG_007509.2:g.23033C>T;NM_001079821.2:c.2430C>T;NM_001127461.2:c.2430C>T;NM_001127462.2:c.2259C>T;NM_001243133.1:c.2424C>T;NM_004895.4:c.2430C>T;NM_183395.2:c.2259C>T;NP_001073289.1:p.Leu810=;NP_001120933.1:p.Leu810=;NP_001120934.1:p.Leu753=;NP_001230062.1:p.Leu808=;NP_004886.3:p.Leu810=;NP_899632.1:p.Leu753= 342040937 147154764 ESP2500-chr1-247597507 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597507C>T;NG_007509.2:g.23033C>T;NM_001079821.2:c.2430C>T;NM_001127461.2:c.2430C>T;NM_001127462.2:c.2259C>T;NM_001243133.1:c.2424C>T;NM_004895.4:c.2430C>T;NM_183395.2:c.2259C>T;NP_001073289.1:p.Leu810=;NP_001120933.1:p.Leu810=;NP_001120934.1:p.Leu753=;NP_001230062.1:p.Leu808=;NP_004886.3:p.Leu810=;NP_899632.1:p.Leu753= 491238239 147154764 chr1_245664130 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597508G>A;NG_007509.2:g.23034G>A;NM_001079821.2:c.2431G>A;NM_001127461.2:c.2431G>A;NM_001127462.2:c.2260G>A;NM_001243133.1:c.2425G>A;NM_004895.4:c.2431G>A;NM_183395.2:c.2260G>A;NP_001073289.1:p.Gly811Ser;NP_001120933.1:p.Gly811Ser;NP_001120934.1:p.Gly754Ser;NP_001230062.1:p.Gly809Ser;NP_004886.3:p.Gly811Ser;NP_899632.1:p.Gly754Ser 329363842 141389711 20100804_snps_1007378_chr1_247597508 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597508G>A;NG_007509.2:g.23034G>A;NM_001079821.2:c.2431G>A;NM_001127461.2:c.2431G>A;NM_001127462.2:c.2260G>A;NM_001243133.1:c.2425G>A;NM_004895.4:c.2431G>A;NM_183395.2:c.2260G>A;NP_001073289.1:p.Gly811Ser;NP_001120933.1:p.Gly811Ser;NP_001120934.1:p.Gly754Ser;NP_001230062.1:p.Gly809Ser;NP_004886.3:p.Gly811Ser;NP_899632.1:p.Gly754Ser 489800524 141389711 20110521_exome_333985_chr1_247597508 5.00e-04 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597509G>A;NG_007509.2:g.23035G>A;NM_001079821.2:c.2432G>A;NM_001127461.2:c.2432G>A;NM_001127462.2:c.2261G>A;NM_001243133.1:c.2426G>A;NM_004895.4:c.2432G>A;NM_183395.2:c.2261G>A;NP_001073289.1:p.Gly811Asp;NP_001120933.1:p.Gly811Asp;NP_001120934.1:p.Gly754Asp;NP_001230062.1:p.Gly809Asp;NP_004886.3:p.Gly811Asp;NP_899632.1:p.Gly754Asp 491238240 200206415 chr1_245664132 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247597516C>T;NG_007509.2:g.23042C>T;NM_001079821.2:c.2439C>T;NM_001127461.2:c.2439C>T;NM_001127462.2:c.2268C>T;NM_001243133.1:c.2433C>T;NM_004895.4:c.2439C>T;NM_183395.2:c.2268C>T;NP_001073289.1:p.Phe813=;NP_001120933.1:p.Phe813=;NP_001120934.1:p.Phe756=;NP_001230062.1:p.Phe811=;NP_004886.3:p.Phe813=;NP_899632.1:p.Phe756= 342040939 143175395 ESP2500-chr1-247597516 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597516C>T;NG_007509.2:g.23042C>T;NM_001079821.2:c.2439C>T;NM_001127461.2:c.2439C>T;NM_001127462.2:c.2268C>T;NM_001243133.1:c.2433C>T;NM_004895.4:c.2439C>T;NM_183395.2:c.2268C>T;NP_001073289.1:p.Phe813=;NP_001120933.1:p.Phe813=;NP_001120934.1:p.Phe756=;NP_001230062.1:p.Phe811=;NP_004886.3:p.Phe813=;NP_899632.1:p.Phe756= 491238241 143175395 chr1_245664139 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 YSAMUELS 114548 NC_000001.9:g.245664147G>A NC_000001.10:g.247597524G>A;NG_007509.2:g.23050G>A;NM_001079821.2:c.2447G>A;NM_001127461.2:c.2447G>A;NM_001127462.2:c.2276G>A;NM_001243133.1:c.2441G>A;NM_004895.4:c.2447G>A;NM_183395.2:c.2276G>A;NP_001073289.1:p.Arg816Lys;NP_001120933.1:p.Arg816Lys;NP_001120934.1:p.Arg759Lys;NP_001230062.1:p.Arg814Lys;NP_004886.3:p.Arg816Lys;NP_899632.1:p.Arg759Lys 344938145 146999738 NC_000001.9:g.245664147G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247597540A>T;NG_007509.2:g.23066A>T;NM_001079821.2:c.2463A>T;NM_001127461.2:c.2463A>T;NM_001127462.2:c.2292A>T;NM_001243133.1:c.2457A>T;NM_004895.4:c.2463A>T;NM_183395.2:c.2292A>T;NP_001073289.1:p.Gly821=;NP_001120933.1:p.Gly821=;NP_001120934.1:p.Gly764=;NP_001230062.1:p.Gly819=;NP_004886.3:p.Gly821=;NP_899632.1:p.Gly764= 491238242 202034848 chr1_245664163 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597549C>T;NG_007509.2:g.23075C>T;NM_001079821.2:c.2472C>T;NM_001127461.2:c.2472C>T;NM_001127462.2:c.2301C>T;NM_001243133.1:c.2466C>T;NM_004895.4:c.2472C>T;NM_183395.2:c.2301C>T;NP_001073289.1:p.His824=;NP_001120933.1:p.His824=;NP_001120934.1:p.His767=;NP_001230062.1:p.His822=;NP_004886.3:p.His824=;NP_899632.1:p.His767= 491238243 200319515 chr1_245664172 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597553T>C;NG_007509.2:g.23079T>C;NM_001079821.2:c.2476T>C;NM_001127461.2:c.2476T>C;NM_001127462.2:c.2305T>C;NM_001243133.1:c.2470T>C;NM_004895.4:c.2476T>C;NM_183395.2:c.2305T>C;NP_001073289.1:p.Leu826=;NP_001120933.1:p.Leu826=;NP_001120934.1:p.Leu769=;NP_001230062.1:p.Leu824=;NP_004886.3:p.Leu826=;NP_899632.1:p.Leu769= 491238244 201270781 chr1_245664176 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247597571C>A;NG_007509.2:g.23097C>A;NM_001079821.2:c.2494C>A;NM_001127461.2:c.2494C>A;NM_001127462.2:c.2323C>A;NM_001243133.1:c.2488C>A;NM_004895.4:c.2494C>A;NM_183395.2:c.2323C>A;NP_001073289.1:p.Leu832Ile;NP_001120933.1:p.Leu832Ile;NP_001120934.1:p.Leu775Ile;NP_001230062.1:p.Leu830Ile;NP_004886.3:p.Leu832Ile;NP_899632.1:p.Leu775Ile 219005683 114158404 pilot_1_YRI_815366_chr1_245664194 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247597571C>A;NG_007509.2:g.23097C>A;NM_001079821.2:c.2494C>A;NM_001127461.2:c.2494C>A;NM_001127462.2:c.2323C>A;NM_001243133.1:c.2488C>A;NM_004895.4:c.2494C>A;NM_183395.2:c.2323C>A;NP_001073289.1:p.Leu832Ile;NP_001120933.1:p.Leu832Ile;NP_001120934.1:p.Leu775Ile;NP_001230062.1:p.Leu830Ile;NP_004886.3:p.Leu832Ile;NP_899632.1:p.Leu775Ile 342040940 114158404 ESP2500-chr1-247597571 2.30e-03 2011.03.26 2011.03.26 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597571C>A;NG_007509.2:g.23097C>A;NM_001079821.2:c.2494C>A;NM_001127461.2:c.2494C>A;NM_001127462.2:c.2323C>A;NM_001243133.1:c.2488C>A;NM_004895.4:c.2494C>A;NM_183395.2:c.2323C>A;NP_001073289.1:p.Leu832Ile;NP_001120933.1:p.Leu832Ile;NP_001120934.1:p.Leu775Ile;NP_001230062.1:p.Leu830Ile;NP_004886.3:p.Leu832Ile;NP_899632.1:p.Leu775Ile 489800526 114158404 20110521_exome_333986_chr1_247597571 2.30e-03 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597571C>A;NG_007509.2:g.23097C>A;NM_001079821.2:c.2494C>A;NM_001127461.2:c.2494C>A;NM_001127462.2:c.2323C>A;NM_001243133.1:c.2488C>A;NM_004895.4:c.2494C>A;NM_183395.2:c.2323C>A;NP_001073289.1:p.Leu832Ile;NP_001120933.1:p.Leu832Ile;NP_001120934.1:p.Leu775Ile;NP_001230062.1:p.Leu830Ile;NP_004886.3:p.Leu832Ile;NP_899632.1:p.Leu775Ile 491238245 114158404 chr1_245664194 2.30e-03 2012.03.02 2012.03.02 2010.07.14 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247597571C>A;NG_007509.2:g.23097C>A;NM_001079821.2:c.2494C>A;NM_001127461.2:c.2494C>A;NM_001127462.2:c.2323C>A;NM_001243133.1:c.2488C>A;NM_004895.4:c.2494C>A;NM_183395.2:c.2323C>A;NP_001073289.1:p.Leu832Ile;NP_001120933.1:p.Leu832Ile;NP_001120934.1:p.Leu775Ile;NP_001230062.1:p.Leu830Ile;NP_004886.3:p.Leu832Ile;NP_899632.1:p.Leu775Ile 491313839 114158404 nonsyn_30066_chr_1_247597571 2.30e-03 2012.03.05 2012.03.05 2010.07.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597582C>T;NG_007509.2:g.23108C>T;NM_001079821.2:c.2498+7C>T;NM_001127461.2:c.2498+7C>T;NM_001127462.2:c.2327+7C>T;NM_001243133.1:c.2492+7C>T;NM_004895.4:c.2498+7C>T;NM_183395.2:c.2327+7C>T 491238246 200534219 chr1_245664205 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597583G>A;NG_007509.2:g.23109G>A;NM_001079821.2:c.2498+8G>A;NM_001127461.2:c.2498+8G>A;NM_001127462.2:c.2327+8G>A;NM_001243133.1:c.2492+8G>A;NM_004895.4:c.2498+8G>A;NM_183395.2:c.2327+8G>A 491238247 201453934 chr1_245664206 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247597587C>A;NG_007509.2:g.23113C>A;NM_001079821.2:c.2498+12C>A;NM_001127461.2:c.2498+12C>A;NM_001127462.2:c.2327+12C>A;NM_001243133.1:c.2492+12C>A;NM_004895.4:c.2498+12C>A;NM_183395.2:c.2327+12C>A 329363843 150907298 20100804_snps_1007379_chr1_247597587 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597587C>A;NG_007509.2:g.23113C>A;NM_001079821.2:c.2498+12C>A;NM_001127461.2:c.2498+12C>A;NM_001127462.2:c.2327+12C>A;NM_001243133.1:c.2492+12C>A;NM_004895.4:c.2498+12C>A;NM_183395.2:c.2327+12C>A 489800528 150907298 20110521_exome_333987_chr1_247597587 5.00e-04 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247597588C>T;NG_007509.2:g.23114C>T;NM_001079821.2:c.2498+13C>T;NM_001127461.2:c.2498+13C>T;NM_001127462.2:c.2327+13C>T;NM_001243133.1:c.2492+13C>T;NM_004895.4:c.2498+13C>T;NM_183395.2:c.2327+13C>T 491238248 199746830 chr1_245664211 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597594C>T;NG_007509.2:g.23120C>T;NM_001079821.2:c.2498+19C>T;NM_001127461.2:c.2498+19C>T;NM_001127462.2:c.2327+19C>T;NM_001243133.1:c.2492+19C>T;NM_004895.4:c.2498+19C>T;NM_183395.2:c.2327+19C>T 491238249 200900048 chr1_245664217 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597614G>A;NG_007509.2:g.23140G>A;NM_001079821.2:c.2498+39G>A;NM_001127461.2:c.2498+39G>A;NM_001127462.2:c.2327+39G>A;NM_001243133.1:c.2492+39G>A;NM_004895.4:c.2498+39G>A;NM_183395.2:c.2327+39G>A 491238250 201858222 chr1_245664237 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597618C>T;NG_007509.2:g.23144C>T;NM_001079821.2:c.2498+43C>T;NM_001127461.2:c.2498+43C>T;NM_001127462.2:c.2327+43C>T;NM_001243133.1:c.2492+43C>T;NM_004895.4:c.2498+43C>T;NM_183395.2:c.2327+43C>T 491238251 199943433 chr1_245664241 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247597619G>A;NG_007509.2:g.23145G>A;NM_001079821.2:c.2498+44G>A;NM_001127461.2:c.2498+44G>A;NM_001127462.2:c.2327+44G>A;NM_001243133.1:c.2492+44G>A;NM_004895.4:c.2498+44G>A;NM_183395.2:c.2327+44G>A 491238252 200720785 chr1_245664242 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 BUSHMAN 114548 NC_000001.10:g.247597626G>A;NG_007509.2:g.23152G>A;NM_001079821.2:c.2498+51G>A;NM_001127461.2:c.2498+51G>A;NM_001127462.2:c.2327+51G>A;NM_001243133.1:c.2492+51G>A;NM_004895.4:c.2498+51G>A;NM_183395.2:c.2327+51G>A 199903916 112083888 BUSHMAN-chr1-245664248 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 109136535 72771997 CEU.trio.12.15.2008_293434_chr1_245664252 1.03e-01 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 167597226 72771997 NA20431_36_chr1_245664252 1.03e-01 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 199903920 72771997 BUSHMAN-chr1-245664251 1.03e-01 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 219005684 72771997 pilot_1_YRI_815367_chr1_245664252 1.03e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 230995485 72771997 pilot_1_CEU_600114_chr1_245664252 1.03e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 482298424 72771997 HumanOmni2.5-4v1_B_SNP1-245664252-0_T_R_1616688502 1.03e-01 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247597629C>T;NG_007509.2:g.23155C>T;NM_001079821.2:c.2498+54C>T;NM_001127461.2:c.2498+54C>T;NM_001127462.2:c.2327+54C>T;NM_001243133.1:c.2492+54C>T;NM_004895.4:c.2498+54C>T;NM_183395.2:c.2327+54C>T 483139306 72771997 HumanOmni2.5-4v1_D_kgp3264446-0_T_R_1821523829 1.03e-01 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 YUSUKE 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 5021816 3835304 IMS-JST119801 4.96e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 41304223 3835304 hCV33568139 4.96e-01 2005.07.17 2005.07.17 2002.08.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 77846583 3835304 Cor12156_DIV_20070510.chr1_243923700-243923702_1 4.96e-01 2007.10.15 2007.10.15 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 95261589 3835304 1104685304933 4.96e-01 2008.03.21 2008.12.02 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 99419143 3835304 INDEL_GP36_2007a_927749_0 4.96e-01 2008.05.05 2008.05.05 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 99935678 3835304 INDEL_GP36_2007a_908063_0 4.96e-01 2008.05.06 2008.05.06 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101231550 3835304 INDEL_GP36_2008a_927749_1 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101231555 3835304 INDEL_GP36_2008a_927749_2 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101231558 3835304 INDEL_GP36_2008a_927749_3 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101231560 3835304 INDEL_GP36_2008a_927749_4 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101607506 3835304 INDEL_GP36_2008a_908063_1 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101607508 3835304 INDEL_GP36_2008a_908063_2 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101607511 3835304 INDEL_GP36_2008a_908063_3 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 101607514 3835304 INDEL_GP36_2008a_908063_4 4.96e-01 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 BL 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 255981171 3835304 SNP15681_1_245664279 4.96e-01 2010.08.20 2010.08.20 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 287692041 3835304 GMI_NA10851_INDEL_24669 4.96e-01 2010.12.18 2010.12.20 2002.08.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 288119539 3835304 GMI_AK_INDEL_90635 4.96e-01 2010.12.21 2011.12.23 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 326158606 3835304 JPTCHB_chr1_245664279_indel 4.96e-01 2011.03.11 2011.04.02 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 326164548 3835304 CEU_chr1_245664279_indel 4.96e-01 2011.03.11 2011.04.01 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 326215335 3835304 YRI_chr1_245664279_indel 4.96e-01 2011.03.11 2011.04.02 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597657delG;NG_007509.2:g.23183delG;NM_001079821.2:c.2498+82delG;NM_001127461.2:c.2498+82delG;NM_001127462.2:c.2327+82delG;NM_001243133.1:c.2492+82delG;NM_004895.4:c.2498+82delG;NM_183395.2:c.2327+82delG 499190879 3835304 20110316_indels_chr1_247597656_247597656 4.96e-01 2012.03.19 2012.03.19 2002.08.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597688G>A;NG_007509.2:g.23214G>A;NM_001079821.2:c.2498+113G>A;NM_001127461.2:c.2498+113G>A;NM_001127462.2:c.2327+113G>A;NM_001243133.1:c.2492+113G>A;NM_004895.4:c.2498+113G>A;NM_183395.2:c.2327+113G>A 210793800 114382563 YRI.trio.3.2010_117440_chr1_245664311 5.00e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247597688G>A;NG_007509.2:g.23214G>A;NM_001079821.2:c.2498+113G>A;NM_001127461.2:c.2498+113G>A;NM_001127462.2:c.2327+113G>A;NM_001243133.1:c.2492+113G>A;NM_004895.4:c.2498+113G>A;NM_183395.2:c.2327+113G>A 329363844 114382563 20100804_snps_1007380_chr1_247597688 5.00e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247597746G>A;NG_007509.2:g.23272G>A;NM_001079821.2:c.2498+171G>A;NM_001127461.2:c.2498+171G>A;NM_001127462.2:c.2327+171G>A;NM_001243133.1:c.2492+171G>A;NM_004895.4:c.2498+171G>A;NM_183395.2:c.2327+171G>A 199903924 111674929 BUSHMAN-chr1-245664368 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597765C>T;NG_007509.2:g.23291C>T;NM_001079821.2:c.2498+190C>T;NM_001127461.2:c.2498+190C>T;NM_001127462.2:c.2327+190C>T;NM_001243133.1:c.2492+190C>T;NM_004895.4:c.2498+190C>T;NM_183395.2:c.2327+190C>T 329363845 150043338 20100804_snps_1007381_chr1_247597765 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247597774C>A;NG_007509.2:g.23300C>A;NM_001079821.2:c.2498+199C>A;NM_001127461.2:c.2498+199C>A;NM_001127462.2:c.2327+199C>A;NM_001243133.1:c.2492+199C>A;NM_004895.4:c.2498+199C>A;NM_183395.2:c.2327+199C>A 199903928 112688890 BUSHMAN-chr1-245664396 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247597915T>C;NG_007509.2:g.23441T>C;NM_001079821.2:c.2498+340T>C;NM_001127461.2:c.2498+340T>C;NM_001127462.2:c.2327+340T>C;NM_001243133.1:c.2492+340T>C;NM_004895.4:c.2498+340T>C;NM_183395.2:c.2327+340T>C 329363846 147295229 20100804_snps_1007382_chr1_247597915 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247598033G>A;NG_007509.2:g.23559G>A;NM_001079821.2:c.2498+458G>A;NM_001127461.2:c.2498+458G>A;NM_001127462.2:c.2327+458G>A;NM_001243133.1:c.2492+458G>A;NM_004895.4:c.2498+458G>A;NM_183395.2:c.2327+458G>A 119287763 74154641 NA18507_000265608_NCBI36.1_chr1_245664656 1.42e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598033G>A;NG_007509.2:g.23559G>A;NM_001079821.2:c.2498+458G>A;NM_001127461.2:c.2498+458G>A;NM_001127462.2:c.2327+458G>A;NM_001243133.1:c.2492+458G>A;NM_004895.4:c.2498+458G>A;NM_183395.2:c.2327+458G>A 219005685 74154641 pilot_1_YRI_815368_chr1_245664656 1.42e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 18113660 10925023 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12261415 3.41e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 18288461 10925023 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12261415 3.41e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 41295033 10925023 hCV26646028 3.41e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 88051292 10925023 JWB-0217804 3.41e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 98020148 10925023 1103675395146 3.41e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 109136540 10925023 CEU.trio.12.15.2008_293435_chr1_245664674 3.41e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 138194275 10925023 ENSSNP5950914 3.41e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 138997917 10925023 ENSSNP197707 3.41e-01 2009.05.18 2009.10.16 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 167597228 10925023 NA20431_36_chr1_245664674 3.41e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 219005686 10925023 pilot_1_YRI_815369_chr1_245664674 3.41e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 230995486 10925023 pilot_1_CEU_600115_chr1_245664674 3.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 238590456 10925023 pilot_1_CHB+JPT_475533_chr1_245664674 3.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 253949040 10925023 SNP242680_1_245664674 3.41e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 276310554 10925023 GMI_AK_SNP_630721 3.41e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 290789448 10925023 SNP_295806_chr1_245664674 3.41e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 482298427 10925023 HumanOmni2.5-4v1_B_SNP1-245664674-0_T_R_1612995431 3.41e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247598051G>T;NG_007509.2:g.23577G>T;NM_001079821.2:c.2498+476G>T;NM_001127461.2:c.2498+476G>T;NM_001127462.2:c.2327+476G>T;NM_001243133.1:c.2492+476G>T;NM_004895.4:c.2498+476G>T;NM_183395.2:c.2327+476G>T 484264412 10925023 HumanOmni2.5-4v1_D_kgp9387742-0_T_R_1817685329 3.41e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598111C>T;NG_007509.2:g.23637C>T;NM_001079821.2:c.2498+536C>T;NM_001127461.2:c.2498+536C>T;NM_001127462.2:c.2327+536C>T;NM_001243133.1:c.2492+536C>T;NM_004895.4:c.2498+536C>T;NM_183395.2:c.2327+536C>T 230995487 74460651 pilot_1_CEU_600116_chr1_245664734 1.15e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598111C>T;NG_007509.2:g.23637C>T;NM_001079821.2:c.2498+536C>T;NM_001127461.2:c.2498+536C>T;NM_001127462.2:c.2327+536C>T;NM_001243133.1:c.2492+536C>T;NM_004895.4:c.2498+536C>T;NM_183395.2:c.2327+536C>T 238590457 74460651 pilot_1_CHB+JPT_475534_chr1_245664734 1.15e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247598111C>T;NG_007509.2:g.23637C>T;NM_001079821.2:c.2498+536C>T;NM_001127461.2:c.2498+536C>T;NM_001127462.2:c.2327+536C>T;NM_001243133.1:c.2492+536C>T;NM_004895.4:c.2498+536C>T;NM_183395.2:c.2327+536C>T 276310555 74460651 GMI_AK_SNP_630722 1.15e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247598176A>G;NG_007509.2:g.23702A>G;NM_001079821.2:c.2498+601A>G;NM_001127461.2:c.2498+601A>G;NM_001127462.2:c.2327+601A>G;NM_001243133.1:c.2492+601A>G;NM_004895.4:c.2498+601A>G;NM_183395.2:c.2327+601A>G 199903933 112163776 BUSHMAN-chr1-245664798 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598204A>G;NG_007509.2:g.23730A>G;NM_001079821.2:c.2498+629A>G;NM_001127461.2:c.2498+629A>G;NM_001127462.2:c.2327+629A>G;NM_001243133.1:c.2492+629A>G;NM_004895.4:c.2498+629A>G;NM_183395.2:c.2327+629A>G 329363847 140886121 20100804_snps_1007383_chr1_247598204 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598281C>T;NG_007509.2:g.23807C>T;NM_001079821.2:c.2498+706C>T;NM_001127461.2:c.2498+706C>T;NM_001127462.2:c.2327+706C>T;NM_001243133.1:c.2492+706C>T;NM_004895.4:c.2498+706C>T;NM_183395.2:c.2327+706C>T 329363848 144330305 20100804_snps_1007384_chr1_247598281 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598415A>G;NG_007509.2:g.23941A>G;NM_001079821.2:c.2498+840A>G;NM_001127461.2:c.2498+840A>G;NM_001127462.2:c.2327+840A>G;NM_001243133.1:c.2492+840A>G;NM_004895.4:c.2498+840A>G;NM_183395.2:c.2327+840A>G 329363849 147786095 20100804_snps_1007385_chr1_247598415 2.20e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 114548 NC_000001.10:g.247598462G>T;NG_007509.2:g.23988G>T;NM_001079821.2:c.2499-810G>T;NM_001127461.2:c.2498+887G>T;NM_001127462.2:c.2328-810G>T;NM_001243133.1:c.2493-810G>T;NM_004895.4:c.2499-810G>T;NM_183395.2:c.2327+887G>T 20482311 12733659 WGSA-200403-chr1.chr1.NT_004836.15_12261826 2004.03.18 2004.03.18 2004.04.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 80429069 57798344 Cor18507_SNV_20070510.chr1_243924525 1.73e-01 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 165636463 57798344 NA19240_36_chr1_245665107 1.73e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 219005687 57798344 pilot_1_YRI_815370_chr1_245665107 1.73e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 230995488 57798344 pilot_1_CEU_600117_chr1_245665107 1.73e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 238590458 57798344 pilot_1_CHB+JPT_475535_chr1_245665107 1.73e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247598484G>A;NG_007509.2:g.24010G>A;NM_001079821.2:c.2499-788G>A;NM_001127461.2:c.2498+909G>A;NM_001127462.2:c.2328-788G>A;NM_001243133.1:c.2493-788G>A;NM_004895.4:c.2499-788G>A;NM_183395.2:c.2327+909G>A 276310556 57798344 GMI_AK_SNP_630723 1.73e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598509G>C;NG_007509.2:g.24035G>C;NM_001079821.2:c.2499-763G>C;NM_001127461.2:c.2498+934G>C;NM_001127462.2:c.2328-763G>C;NM_001243133.1:c.2493-763G>C;NM_004895.4:c.2499-763G>C;NM_183395.2:c.2327+934G>C 454808170 181501625 20101123_snps_975400_chr1_247598509 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 15387411 10754556 NT_004836.15_12261880 5.82e-02 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 18121105 10754556 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12261880 5.82e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 18210095 10754556 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12261880 5.82e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 19151981 10754556 CSHL-HuDD-200402.chr1.NT_004836.15_12261880 5.82e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 20578640 10754556 WGSA-200403-chr1.chr1.NT_004836.15_12261880 5.82e-02 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 41321176 10754556 hCV31451970 5.82e-02 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 77635953 10754556 Cor12156_SNV_20070510.chr1_243924557 5.82e-02 2007.10.14 2007.10.14 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 80268394 10754556 Cor18507_SNV_20070510.chr1_243924557 5.82e-02 2007.11.25 2007.11.25 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 83581730 10754556 Cor18555_SNV_20070510.chr1_243924557 5.82e-02 2007.12.05 2007.12.05 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 84416120 10754556 Cor19240_SNV_20070510.chr1_243924557 5.82e-02 2007.12.07 2007.12.07 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 88051294 10754556 JWB-0217805 5.82e-02 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 98020149 10754556 1103675395147 5.82e-02 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 106647979 10754556 BGI_rs10754556 5.82e-02 2008.09.17 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 109136544 10754556 CEU.trio.12.15.2008_293436_chr1_245665139 5.82e-02 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 119287765 10754556 NA18507_000265609_NCBI36.1_chr1_245665139 5.82e-02 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 138194276 10754556 ENSSNP5988668 5.82e-02 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 139536457 10754556 ENSSNP197708 5.82e-02 2009.05.19 2009.10.16 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 156563999 10754556 GMI_SNP_118419820 5.82e-02 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 165636471 10754556 NA19240_36_chr1_245665139 5.82e-02 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 165961981 10754556 NA07022_36_chr1_245665139 5.82e-02 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 167597230 10754556 NA20431_36_chr1_245665139 5.82e-02 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 199903937 10754556 BUSHMAN-chr1-245665138 5.82e-02 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 205506630 10754556 BCM_CMT_1011-232140 5.82e-02 2010.03.16 2010.03.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 219005688 10754556 pilot_1_YRI_815371_chr1_245665139 5.82e-02 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 230995489 10754556 pilot_1_CEU_600118_chr1_245665139 5.82e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 238590459 10754556 pilot_1_CHB+JPT_475536_chr1_245665139 5.82e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 253949043 10754556 SNP242681_1_245665139 5.82e-02 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 276310557 10754556 GMI_AK_SNP_630724 5.82e-02 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247598516T>C;NG_007509.2:g.24042T>C;NM_001079821.2:c.2499-756T>C;NM_001127461.2:c.2498+941T>C;NM_001127462.2:c.2328-756T>C;NM_001243133.1:c.2493-756T>C;NM_004895.4:c.2499-756T>C;NM_183395.2:c.2327+941T>C 290789449 10754556 SNP_295807_chr1_245665139 5.82e-02 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247598523G>A;NG_007509.2:g.24049G>A;NM_001079821.2:c.2499-749G>A;NM_001127461.2:c.2498+948G>A;NM_001127462.2:c.2328-749G>A;NM_001243133.1:c.2493-749G>A;NM_004895.4:c.2499-749G>A;NM_183395.2:c.2327+948G>A 230995490 116748199 pilot_1_CEU_600119_chr1_245665146 1.40e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598525C>T;NG_007509.2:g.24051C>T;NM_001079821.2:c.2499-747C>T;NM_001127461.2:c.2498+950C>T;NM_001127462.2:c.2328-747C>T;NM_001243133.1:c.2493-747C>T;NM_004895.4:c.2499-747C>T;NM_183395.2:c.2327+950C>T 454808171 187025956 20101123_snps_975401_chr1_247598525 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247598769C>T;NG_007509.2:g.24295C>T;NM_001079821.2:c.2499-503C>T;NM_001127461.2:c.2498+1194C>T;NM_001127462.2:c.2328-503C>T;NM_001243133.1:c.2493-503C>T;NM_004895.4:c.2499-503C>T;NM_183395.2:c.2327+1194C>T 230995491 74772537 pilot_1_CEU_600120_chr1_245665392 6.90e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247598789T>C;NG_007509.2:g.24315T>C;NM_001079821.2:c.2499-483T>C;NM_001127461.2:c.2498+1214T>C;NM_001127462.2:c.2328-483T>C;NM_001243133.1:c.2493-483T>C;NM_004895.4:c.2499-483T>C;NM_183395.2:c.2327+1214T>C 219005689 114218772 pilot_1_YRI_815372_chr1_245665412 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598842C>T;NG_007509.2:g.24368C>T;NM_001079821.2:c.2499-430C>T;NM_001127461.2:c.2498+1267C>T;NM_001127462.2:c.2328-430C>T;NM_001243133.1:c.2493-430C>T;NM_004895.4:c.2499-430C>T;NM_183395.2:c.2327+1267C>T 219005690 115581072 pilot_1_YRI_815373_chr1_245665465 1.42e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598881A>G;NG_007509.2:g.24407A>G;NM_001079821.2:c.2499-391A>G;NM_001127461.2:c.2498+1306A>G;NM_001127462.2:c.2328-391A>G;NM_001243133.1:c.2493-391A>G;NM_004895.4:c.2499-391A>G;NM_183395.2:c.2327+1306A>G 454808172 191065497 20101123_snps_975402_chr1_247598881 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247598925G>A;NG_007509.2:g.24451G>A;NM_001079821.2:c.2499-347G>A;NM_001127461.2:c.2498+1350G>A;NM_001127462.2:c.2328-347G>A;NM_001243133.1:c.2493-347G>A;NM_004895.4:c.2499-347G>A;NM_183395.2:c.2327+1350G>A 219005691 79759189 pilot_1_YRI_815374_chr1_245665548 1.83e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247598945G>A;NG_007509.2:g.24471G>A;NM_001079821.2:c.2499-327G>A;NM_001127461.2:c.2498+1370G>A;NM_001127462.2:c.2328-327G>A;NM_001243133.1:c.2493-327G>A;NM_004895.4:c.2499-327G>A;NM_183395.2:c.2327+1370G>A 230995492 77479958 pilot_1_CEU_600121_chr1_245665568 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247598966A>C;NG_007509.2:g.24492A>C;NM_001079821.2:c.2499-306A>C;NM_001127461.2:c.2498+1391A>C;NM_001127462.2:c.2328-306A>C;NM_001243133.1:c.2493-306A>C;NM_004895.4:c.2499-306A>C;NM_183395.2:c.2327+1391A>C 199903940 112902164 BUSHMAN-chr1-245665588 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598983A>T;NG_007509.2:g.24509A>T;NM_001079821.2:c.2499-289A>T;NM_001127461.2:c.2498+1408A>T;NM_001127462.2:c.2328-289A>T;NM_001243133.1:c.2493-289A>T;NM_004895.4:c.2499-289A>T;NM_183395.2:c.2327+1408A>T 329363850 148827142 20100804_snps_1007386_chr1_247598983 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247598984T>C;NG_007509.2:g.24510T>C;NM_001079821.2:c.2499-288T>C;NM_001127461.2:c.2498+1409T>C;NM_001127462.2:c.2328-288T>C;NM_001243133.1:c.2493-288T>C;NM_004895.4:c.2499-288T>C;NM_183395.2:c.2327+1409T>C 454808173 183408673 20101123_snps_975403_chr1_247598984 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247598996A>T;NG_007509.2:g.24522A>T;NM_001079821.2:c.2499-276A>T;NM_001127461.2:c.2498+1421A>T;NM_001127462.2:c.2328-276A>T;NM_001243133.1:c.2493-276A>T;NM_004895.4:c.2499-276A>T;NM_183395.2:c.2327+1421A>T 454808174 186761192 20101123_snps_975404_chr1_247598996 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 15556588 10925024 NT_004836.15_12262389 1.55e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 18608190 10925024 SC-CHR9-12_NA17119-200402.chr1.NT_004836.15_12262389 1.55e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 77156960 10925024 Cor12156_SNV_20070510.chr1_243925066 1.55e-01 2007.10.09 2007.10.11 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 81843519 10925024 Cor19240_SNV_20070510.chr1_243925066 1.55e-01 2007.12.01 2007.12.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 112114542 10925024 NA19240_2008_12_16_266132_chr1_245665648 1.55e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 119287767 10925024 NA18507_000265610_NCBI36.1_chr1_245665648 1.55e-01 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 165636481 10925024 NA19240_36_chr1_245665648 1.55e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 219005692 10925024 pilot_1_YRI_815375_chr1_245665648 1.55e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 230995493 10925024 pilot_1_CEU_600122_chr1_245665648 1.55e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 238590460 10925024 pilot_1_CHB+JPT_475537_chr1_245665648 1.55e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247599025C>T;NG_007509.2:g.24551C>T;NM_001079821.2:c.2499-247C>T;NM_001127461.2:c.2498+1450C>T;NM_001127462.2:c.2328-247C>T;NM_001243133.1:c.2493-247C>T;NM_004895.4:c.2499-247C>T;NM_183395.2:c.2327+1450C>T 276310558 10925024 GMI_AK_SNP_630725 1.55e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599053G>A;NG_007509.2:g.24579G>A;NM_001079821.2:c.2499-219G>A;NM_001127461.2:c.2498+1478G>A;NM_001127462.2:c.2328-219G>A;NM_001243133.1:c.2493-219G>A;NM_004895.4:c.2499-219G>A;NM_183395.2:c.2327+1478G>A 109136548 72772000 CEU.trio.12.15.2008_293437_chr1_245665676 variation has been flagged as failed by submitter 2008.12.16 2008.12.16 2009.02.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247599055A>G;NG_007509.2:g.24581A>G;NM_001079821.2:c.2499-217A>G;NM_001127461.2:c.2498+1480A>G;NM_001127462.2:c.2328-217A>G;NM_001243133.1:c.2493-217A>G;NM_004895.4:c.2499-217A>G;NM_183395.2:c.2327+1480A>G 329363851 142507379 20100804_snps_1007387_chr1_247599055 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 6254328 4612666 NT_031730.5_649138 3.87e-01 2003.01.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 15556559 4612666 NT_004836.15_12262434 3.87e-01 2003.11.17 2008.03.31 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 16461310 4612666 CSHL-HuAA-200402.chr1.NT_004836.15_12262434 3.87e-01 2004.02.17 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 17377555 4612666 CSHL-HuCC-200402.chr1.NT_004836.15_12262434 3.87e-01 2004.02.19 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 19873029 4612666 CSHL-HuFF-200402.chr1.NT_004836.15_12262434 3.87e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 41156251 4612666 hCV26646029 3.87e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 65793345 4612666 Human1-rs4612666 3.87e-01 2006.10.10 2006.10.10 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 66299098 4612666 SNP_A-1842019 3.87e-01 2006.10.29 2008.03.31 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 68800569 4612666 PGP07790548 3.87e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 74871145 4612666 ILMN_Human_1M_rs4612666 3.87e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 75969675 4612666 AFFY_6_1M_SNP_A-1842019 3.87e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 77178164 4612666 Cor12156_SNV_20070510.chr1_243925111 3.87e-01 2007.10.09 2007.10.11 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 81193422 4612666 Cor18555_SNV_20070510.chr1_243925111 3.87e-01 2007.11.28 2007.11.28 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 82070289 4612666 KHS184284 3.87e-01 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 88051296 4612666 JWB-0217806 3.87e-01 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 99306025 4612666 1103675395142 3.87e-01 2008.04.03 2008.04.03 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 102842953 4612666 BGI_rs4612666 3.87e-01 2008.06.04 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 109136552 4612666 CEU.trio.12.15.2008_293438_chr1_245665693 3.87e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 112114550 4612666 NA19240_2008_12_16_266133_chr1_245665693 3.87e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 119287768 4612666 NA18507_000265611_NCBI36.1_chr1_245665693 3.87e-01 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 131774279 4612666 ENSSNP197709 3.87e-01 2009.05.11 2010.03.07 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 138194277 4612666 ENSSNP6238574 3.87e-01 2009.05.17 2009.05.17 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 160691198 4612666 HumanOmni1-Quad_v1-0_B_rs4612666-128_T_R_1513904126 3.87e-01 2009.08.06 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 165636490 4612666 NA19240_36_chr1_245665693 3.87e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 167597232 4612666 NA20431_36_chr1_245665693 3.87e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 169822767 4612666 GenomeWideSNP_5_SNP_A-1842019 3.87e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 173761328 4612666 Human1M-Duov3_B_rs4612666-128_T_R_1513904126 3.87e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 199903945 4612666 BUSHMAN-chr1-245665692 3.87e-01 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 219005693 4612666 pilot_1_YRI_815376_chr1_245665693 3.87e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 230995494 4612666 pilot_1_CEU_600123_chr1_245665693 3.87e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 238590461 4612666 pilot_1_CHB+JPT_475538_chr1_245665693 3.87e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 244300242 4612666 CVDSNP55v1_A_rs4612666 3.87e-01 2010.06.10 2010.06.10 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 253949046 4612666 SNP242682_1_245665693 3.87e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 276310559 4612666 GMI_AK_SNP_630726 3.87e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 290789450 4612666 SNP_295808_chr1_245665693 3.87e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 480980606 4612666 HumanOmni2.5-4v1_B_rs4612666-128_T_R_1690737308 3.87e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 481001090 4612666 HumanOmniExpress-12v1_C_rs4612666-131_T_R_1857629113 3.87e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 481978934 4612666 HumanOmni1-Quad_v1-0_C_rs4612666-131_T_R_1865220004 3.87e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599070T>C;NG_007509.2:g.24596T>C;NM_001079821.2:c.2499-202T>C;NM_001127461.2:c.2498+1495T>C;NM_001127462.2:c.2328-202T>C;NM_001243133.1:c.2493-202T>C;NM_004895.4:c.2499-202T>C;NM_183395.2:c.2327+1495T>C 485285213 4612666 HumanOmni2.5-4v1_D_rs4612666-131_T_R_1857629113 3.87e-01 2012.02.04 2012.02.04 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599079G>A;NG_007509.2:g.24605G>A;NM_001079821.2:c.2499-193G>A;NM_001127461.2:c.2498+1504G>A;NM_001127462.2:c.2328-193G>A;NM_001243133.1:c.2493-193G>A;NM_004895.4:c.2499-193G>A;NM_183395.2:c.2327+1504G>A 219005694 116096527 pilot_1_YRI_815377_chr1_245665702 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599079G>A;NG_007509.2:g.24605G>A;NM_001079821.2:c.2499-193G>A;NM_001127461.2:c.2498+1504G>A;NM_001127462.2:c.2328-193G>A;NM_001243133.1:c.2493-193G>A;NM_004895.4:c.2499-193G>A;NM_183395.2:c.2327+1504G>A 480866080 116096527 HumanOmni2.5-4v1_D_kgp15493978-0_B_R_1836631811 4.60e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599079G>A;NG_007509.2:g.24605G>A;NM_001079821.2:c.2499-193G>A;NM_001127461.2:c.2498+1504G>A;NM_001127462.2:c.2328-193G>A;NM_001243133.1:c.2493-193G>A;NM_004895.4:c.2499-193G>A;NM_183395.2:c.2327+1504G>A 482298430 116096527 HumanOmni2.5-4v1_B_SNP1-245665702-0_B_R_1631249009 4.60e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ABI 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 43993339 34777555 hCV26646030 4.35e-02 2005.07.18 2005.07.18 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 99306026 34777555 1103675395144 4.35e-02 2008.04.03 2008.04.03 2006.03.14 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 119287771 34777555 NA18507_000265612_NCBI36.1_chr1_245665762 4.35e-02 2009.01.22 2009.01.22 2006.03.14 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 131774282 34777555 ENSSNP197710 4.35e-02 2009.05.11 2009.10.14 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 165961982 34777555 NA07022_36_chr1_245665762 4.35e-02 2009.09.30 2009.09.30 2006.03.14 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 199903949 34777555 BUSHMAN-chr1-245665761 4.35e-02 2010.03.07 2010.03.07 2006.03.14 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 205168193 34777555 BCM_CMT_1011-64118 4.35e-02 2010.03.15 2010.03.15 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 219005695 34777555 pilot_1_YRI_815378_chr1_245665762 4.35e-02 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 276310560 34777555 GMI_AK_SNP_630727 4.35e-02 2010.12.16 2010.12.16 2006.03.14 2012.11.28 137 PJP 114548 NC_000001.10:g.247599139G>C;NG_007509.2:g.24665G>C;NM_001079821.2:c.2499-133G>C;NM_001127461.2:c.2498+1564G>C;NM_001127462.2:c.2328-133G>C;NM_001243133.1:c.2493-133G>C;NM_004895.4:c.2499-133G>C;NM_183395.2:c.2327+1564G>C 290789451 34777555 SNP_295809_chr1_245665762 4.35e-02 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599228C>T;NG_007509.2:g.24754C>T;NM_001079821.2:c.2499-44C>T;NM_001127461.2:c.2498+1653C>T;NM_001127462.2:c.2328-44C>T;NM_001243133.1:c.2493-44C>T;NM_004895.4:c.2499-44C>T;NM_183395.2:c.2327+1653C>T 454808175 190033492 20101123_snps_975405_chr1_247599228 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599228C>T;NG_007509.2:g.24754C>T;NM_001079821.2:c.2499-44C>T;NM_001127461.2:c.2498+1653C>T;NM_001127462.2:c.2328-44C>T;NM_001243133.1:c.2493-44C>T;NM_004895.4:c.2499-44C>T;NM_183395.2:c.2327+1653C>T 489800530 190033492 20110521_exome_333988_chr1_247599228 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 16451044 10754557 CSHL-HuAA-200402.chr1.NT_004836.15_12262596 4.84e-01 2004.02.17 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 18202454 10754557 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12262596 4.84e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 18290528 10754557 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12262596 4.84e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 19867299 10754557 CSHL-HuFF-200402.chr1.NT_004836.15_12262596 4.84e-01 2004.02.21 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 44064383 10754557 hCV26646031 4.84e-01 2005.07.18 2005.07.18 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 75003501 10754557 ILMN_Human_1M_rs10754557 4.84e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 82452687 10754557 Cor18555_SNV_20070510.chr1_243925273 4.84e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 85013596 10754557 Cor19129_SNV_20070510.chr1_243925273 4.84e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 88051297 10754557 JWB-0217807 4.84e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 99306027 10754557 1103675395143 4.84e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 102842954 10754557 BGI_rs10754557 4.84e-01 2008.06.04 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 109136556 10754557 CEU.trio.12.15.2008_293439_chr1_245665855 4.84e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 119626575 10754557 KHS1788822 4.84e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 138194278 10754557 ENSSNP6121318 4.84e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 138997914 10754557 ENSSNP197711 4.84e-01 2009.05.18 2010.03.07 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 156564006 10754557 GMI_SNP_117796856 4.84e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 159915580 10754557 HumanOmni1-Quad_v1-0_B_rs10754557-128_B_R_1513953049 4.84e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 167597234 10754557 NA20431_36_chr1_245665855 4.84e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 170458890 10754557 Human1M-Duov3_B_rs10754557-128_B_R_1513953049 4.84e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 199903953 10754557 BUSHMAN-chr1-245665854 4.84e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 205409502 10754557 BCM_CMT_1011-183720 4.84e-01 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 219005696 10754557 pilot_1_YRI_815379_chr1_245665855 4.84e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 230995495 10754557 pilot_1_CEU_600124_chr1_245665855 4.84e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 238590462 10754557 pilot_1_CHB+JPT_475539_chr1_245665855 4.84e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 244269919 10754557 CVDSNP55v1_A_rs10754557 4.84e-01 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 253949049 10754557 SNP242683_1_245665855 4.84e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 276310561 10754557 GMI_AK_SNP_630728 4.84e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 290789452 10754557 SNP_295810_chr1_245665855 4.84e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 479332914 10754557 HumanOmni2.5-4v1_B_rs10754557-128_B_R_1775057706 4.84e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 479335976 10754557 HumanOmniExpress-12v1_C_rs10754557-131_B_R_1857133899 4.84e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 479728213 10754557 HumanOmni1-Quad_v1-0_C_rs10754557-131_B_R_1865530431 4.84e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 484466661 10754557 HumanOmni2.5-4v1_D_rs10754557-131_B_R_1857133899 4.84e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 489800532 10754557 20110521_exome_333989_chr1_247599232 4.84e-01 2012.02.15 2012.02.21 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247599232G>A;NG_007509.2:g.24758G>A;NM_001079821.2:c.2499-40G>A;NM_001127461.2:c.2498+1657G>A;NM_001127462.2:c.2328-40G>A;NM_001243133.1:c.2493-40G>A;NM_004895.4:c.2499-40G>A;NM_183395.2:c.2327+1657G>A 491238253 10754557 chr1_245665855 4.84e-01 2012.03.02 2012.03.02 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247599264T>A;NG_007509.2:g.24790T>A;NM_001079821.2:c.2499-8T>A;NM_001127461.2:c.2498+1689T>A;NM_001127462.2:c.2328-8T>A;NM_001243133.1:c.2493-8T>A;NM_004895.4:c.2499-8T>A;NM_183395.2:c.2327+1689T>A 491238254 199858933 chr1_245665887 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GEH 114548 NM_001079821.2:c.2499-7A>T NC_000001.10:g.247599265A>T;NG_007509.2:g.24791A>T;NM_001079821.2:c.2499-7A>T;NM_001127461.2:c.2498+1690A>T;NM_001127462.2:c.2328-7A>T;NM_001243133.1:c.2493-7A>T;NM_004895.4:c.2499-7A>T;NM_183395.2:c.2327+1690A>T 506396368 199475735 NLRP3:17169 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247599274T>A;NG_007509.2:g.24800T>A;NM_001079821.2:c.2501T>A;NM_001127461.2:c.2498+1699T>A;NM_001127462.2:c.2330T>A;NM_001243133.1:c.2495T>A;NM_004895.4:c.2501T>A;NM_183395.2:c.2327+1699T>A;NP_001073289.1:p.Leu834Ter;NP_001120934.1:p.Leu777Ter;NP_001230062.1:p.Leu832Ter;NP_004886.3:p.Leu834Ter 491238255 201145969 chr1_245665897 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599302T>C;NG_007509.2:g.24828T>C;NM_001079821.2:c.2529T>C;NM_001127461.2:c.2498+1727T>C;NM_001127462.2:c.2358T>C;NM_001243133.1:c.2523T>C;NM_004895.4:c.2529T>C;NM_183395.2:c.2327+1727T>C;NP_001073289.1:p.Cys843=;NP_001120934.1:p.Cys786=;NP_001230062.1:p.Cys841=;NP_004886.3:p.Cys843= 491238256 202052269 chr1_245665925 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599330A>C;NG_007509.2:g.24856A>C;NM_001079821.2:c.2557A>C;NM_001127461.2:c.2498+1755A>C;NM_001127462.2:c.2386A>C;NM_001243133.1:c.2551A>C;NM_004895.4:c.2557A>C;NM_183395.2:c.2327+1755A>C;NP_001073289.1:p.Thr853Pro;NP_001120934.1:p.Thr796Pro;NP_001230062.1:p.Thr851Pro;NP_004886.3:p.Thr853Pro 491238257 200101933 chr1_245665953 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247599348A>G;NG_007509.2:g.24874A>G;NM_001079821.2:c.2575A>G;NM_001127461.2:c.2498+1773A>G;NM_001127462.2:c.2404A>G;NM_001243133.1:c.2569A>G;NM_004895.4:c.2575A>G;NM_183395.2:c.2327+1773A>G;NP_001073289.1:p.Arg859Gly;NP_001120934.1:p.Arg802Gly;NP_001230062.1:p.Arg857Gly;NP_004886.3:p.Arg859Gly 342040942 150070125 ESP2500-chr1-247599348 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247599353C>T;NG_007509.2:g.24879C>T;NM_001079821.2:c.2580C>T;NM_001127461.2:c.2498+1778C>T;NM_001127462.2:c.2409C>T;NM_001243133.1:c.2574C>T;NM_004895.4:c.2580C>T;NM_183395.2:c.2327+1778C>T;NP_001073289.1:p.Leu860=;NP_001120934.1:p.Leu803=;NP_001230062.1:p.Leu858=;NP_004886.3:p.Leu860= 491238258 201263581 chr1_245665976 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UMAI 114548 NM_001243133.1:c.2576A>G NC_000001.10:g.247599355A>G;NG_007509.2:g.24881A>G;NM_001079821.2:c.2582A>G;NM_001127461.2:c.2498+1780A>G;NM_001127462.2:c.2411A>G;NM_001243133.1:c.2576A>G;NM_004895.4:c.2582A>G;NM_183395.2:c.2327+1780A>G;NP_001073289.1:p.Tyr861Cys;NP_001120934.1:p.Tyr804Cys;NP_001230062.1:p.Tyr859Cys;NP_004886.3:p.Tyr861Cys 469341478 180177452 340 untested 2011.09.08 2011.09.08 2011.09.08 2012.11.19 137 NHLBI-ESP 114548 NC_000001.10:g.247599358T>C;NG_007509.2:g.24884T>C;NM_001079821.2:c.2585T>C;NM_001127461.2:c.2498+1783T>C;NM_001127462.2:c.2414T>C;NM_001243133.1:c.2579T>C;NM_004895.4:c.2585T>C;NM_183395.2:c.2327+1783T>C;NP_001073289.1:p.Val862Ala;NP_001120934.1:p.Val805Ala;NP_001230062.1:p.Val860Ala;NP_004886.3:p.Val862Ala 342040945 143591293 ESP2500-chr1-247599358 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247599363G>C;NG_007509.2:g.24889G>C;NM_001079821.2:c.2590G>C;NM_001127461.2:c.2498+1788G>C;NM_001127462.2:c.2419G>C;NM_001243133.1:c.2584G>C;NM_004895.4:c.2590G>C;NM_183395.2:c.2327+1788G>C;NP_001073289.1:p.Glu864Gln;NP_001120934.1:p.Glu807Gln;NP_001230062.1:p.Glu862Gln;NP_004886.3:p.Glu864Gln 491238259 202149902 chr1_245665986 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599387G>A;NG_007509.2:g.24913G>A;NM_001079821.2:c.2614G>A;NM_001127461.2:c.2498+1812G>A;NM_001127462.2:c.2443G>A;NM_001243133.1:c.2608G>A;NM_004895.4:c.2614G>A;NM_183395.2:c.2327+1812G>A;NP_001073289.1:p.Val872Ile;NP_001120934.1:p.Val815Ile;NP_001230062.1:p.Val870Ile;NP_004886.3:p.Val872Ile 491238260 200259151 chr1_245666010 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247599389C>T;NG_007509.2:g.24915C>T;NM_001079821.2:c.2616C>T;NM_001127461.2:c.2498+1814C>T;NM_001127462.2:c.2445C>T;NM_001243133.1:c.2610C>T;NM_004895.4:c.2616C>T;NM_183395.2:c.2327+1814C>T;NP_001073289.1:p.Val872=;NP_001120934.1:p.Val815=;NP_001230062.1:p.Val870=;NP_004886.3:p.Val872= 342040947 140618467 ESP2500-chr1-247599389 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247599389C>T;NG_007509.2:g.24915C>T;NM_001079821.2:c.2616C>T;NM_001127461.2:c.2498+1814C>T;NM_001127462.2:c.2445C>T;NM_001243133.1:c.2610C>T;NM_004895.4:c.2616C>T;NM_183395.2:c.2327+1814C>T;NP_001073289.1:p.Val872=;NP_001120934.1:p.Val815=;NP_001230062.1:p.Val870=;NP_004886.3:p.Val872= 491238261 140618467 chr1_245666012 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247599390G>T;NG_007509.2:g.24916G>T;NM_001079821.2:c.2617G>T;NM_001127461.2:c.2498+1815G>T;NM_001127462.2:c.2446G>T;NM_001243133.1:c.2611G>T;NM_004895.4:c.2617G>T;NM_183395.2:c.2327+1815G>T;NP_001073289.1:p.Ala873Ser;NP_001120934.1:p.Ala816Ser;NP_001230062.1:p.Ala871Ser;NP_004886.3:p.Ala873Ser 491238262 201867582 chr1_245666013 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599445A>T;NG_007509.2:g.24971A>T;NM_001079821.2:c.2669+3A>T;NM_001127461.2:c.2498+1870A>T;NM_001127462.2:c.2498+3A>T;NM_001243133.1:c.2663+3A>T;NM_004895.4:c.2669+3A>T;NM_183395.2:c.2327+1870A>T 491238263 200398740 chr1_245666068 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599454T>C;NG_007509.2:g.24980T>C;NM_001079821.2:c.2669+12T>C;NM_001127461.2:c.2498+1879T>C;NM_001127462.2:c.2498+12T>C;NM_001243133.1:c.2663+12T>C;NM_004895.4:c.2669+12T>C;NM_183395.2:c.2327+1879T>C 491238264 201467946 chr1_245666077 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247599458T>A;NG_007509.2:g.24984T>A;NM_001079821.2:c.2669+16T>A;NM_001127461.2:c.2498+1883T>A;NM_001127462.2:c.2498+16T>A;NM_001243133.1:c.2663+16T>A;NM_004895.4:c.2669+16T>A;NM_183395.2:c.2327+1883T>A 491238265 199623293 chr1_245666081 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GMI 114548 NC_000001.10:g.247599473G>A;NG_007509.2:g.24999G>A;NM_001079821.2:c.2669+31G>A;NM_001127461.2:c.2498+1898G>A;NM_001127462.2:c.2498+31G>A;NM_001243133.1:c.2663+31G>A;NM_004895.4:c.2669+31G>A;NM_183395.2:c.2327+1898G>A 156564013 76255469 GMI_SNP_36451631 1.01e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247599473G>A;NG_007509.2:g.24999G>A;NM_001079821.2:c.2669+31G>A;NM_001127461.2:c.2498+1898G>A;NM_001127462.2:c.2498+31G>A;NM_001243133.1:c.2663+31G>A;NM_004895.4:c.2669+31G>A;NM_183395.2:c.2327+1898G>A 276310562 76255469 GMI_AK_SNP_630729 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599473G>A;NG_007509.2:g.24999G>A;NM_001079821.2:c.2669+31G>A;NM_001127461.2:c.2498+1898G>A;NM_001127462.2:c.2498+31G>A;NM_001243133.1:c.2663+31G>A;NM_004895.4:c.2669+31G>A;NM_183395.2:c.2327+1898G>A 329363852 76255469 20100804_snps_1007388_chr1_247599473 1.01e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599473G>A;NG_007509.2:g.24999G>A;NM_001079821.2:c.2669+31G>A;NM_001127461.2:c.2498+1898G>A;NM_001127462.2:c.2498+31G>A;NM_001243133.1:c.2663+31G>A;NM_004895.4:c.2669+31G>A;NM_183395.2:c.2327+1898G>A 489800534 76255469 20110521_exome_333990_chr1_247599473 1.01e-02 2012.02.15 2012.02.21 2009.12.01 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247599473G>A;NG_007509.2:g.24999G>A;NM_001079821.2:c.2669+31G>A;NM_001127461.2:c.2498+1898G>A;NM_001127462.2:c.2498+31G>A;NM_001243133.1:c.2663+31G>A;NM_004895.4:c.2669+31G>A;NM_183395.2:c.2327+1898G>A 491238266 76255469 chr1_245666096 1.01e-02 2012.03.02 2012.03.02 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247599513T>C;NG_007509.2:g.25039T>C;NM_001079821.2:c.2669+71T>C;NM_001127461.2:c.2498+1938T>C;NM_001127462.2:c.2498+71T>C;NM_001243133.1:c.2663+71T>C;NM_004895.4:c.2669+71T>C;NM_183395.2:c.2327+1938T>C 199903956 76225363 BUSHMAN-chr1-245666135 4.30e-02 2010.03.07 2010.03.07 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247599513T>C;NG_007509.2:g.25039T>C;NM_001079821.2:c.2669+71T>C;NM_001127461.2:c.2498+1938T>C;NM_001127462.2:c.2498+71T>C;NM_001243133.1:c.2663+71T>C;NM_004895.4:c.2669+71T>C;NM_183395.2:c.2327+1938T>C 219005697 76225363 pilot_1_YRI_815380_chr1_245666136 4.30e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247599521A>T;NG_007509.2:g.25047A>T;NM_001079821.2:c.2669+79A>T;NM_001127461.2:c.2498+1946A>T;NM_001127462.2:c.2498+79A>T;NM_001243133.1:c.2663+79A>T;NM_004895.4:c.2669+79A>T;NM_183395.2:c.2327+1946A>T 329363853 140870086 20100804_snps_1007389_chr1_247599521 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247599611C>T;NG_007509.2:g.25137C>T;NM_001079821.2:c.2669+169C>T;NM_001127461.2:c.2498+2036C>T;NM_001127462.2:c.2498+169C>T;NM_001243133.1:c.2663+169C>T;NM_004895.4:c.2669+169C>T;NM_183395.2:c.2327+2036C>T 219005698 79954758 pilot_1_YRI_815381_chr1_245666234 8.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247599647A>G;NG_007509.2:g.25173A>G;NM_001079821.2:c.2669+205A>G;NM_001127461.2:c.2498+2072A>G;NM_001127462.2:c.2498+205A>G;NM_001243133.1:c.2663+205A>G;NM_004895.4:c.2669+205A>G;NM_183395.2:c.2327+2072A>G 199903961 113442081 BUSHMAN-chr1-245666269 1.33e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599647A>G;NG_007509.2:g.25173A>G;NM_001079821.2:c.2669+205A>G;NM_001127461.2:c.2498+2072A>G;NM_001127462.2:c.2498+205A>G;NM_001243133.1:c.2663+205A>G;NM_004895.4:c.2669+205A>G;NM_183395.2:c.2327+2072A>G 329363854 113442081 20100804_snps_1007390_chr1_247599647 1.33e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247599798C>T;NG_007509.2:g.25324C>T;NM_001079821.2:c.2669+356C>T;NM_001127461.2:c.2498+2223C>T;NM_001127462.2:c.2498+356C>T;NM_001243133.1:c.2663+356C>T;NM_004895.4:c.2669+356C>T;NM_183395.2:c.2327+2223C>T 454808176 182310086 20101123_snps_975406_chr1_247599798 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247599826C>T;NG_007509.2:g.25352C>T;NM_001079821.2:c.2669+384C>T;NM_001127461.2:c.2498+2251C>T;NM_001127462.2:c.2498+384C>T;NM_001243133.1:c.2663+384C>T;NM_004895.4:c.2669+384C>T;NM_183395.2:c.2327+2251C>T 329363855 138686350 20100804_snps_1007391_chr1_247599826 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247599866G>A;NG_007509.2:g.25392G>A;NM_001079821.2:c.2669+424G>A;NM_001127461.2:c.2498+2291G>A;NM_001127462.2:c.2498+424G>A;NM_001243133.1:c.2663+424G>A;NM_004895.4:c.2669+424G>A;NM_183395.2:c.2327+2291G>A 454808177 187734011 20101123_snps_975407_chr1_247599866 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 114548 NC_000001.10:g.247600146_247600147insC;NG_007509.2:g.25672_25673insC;NM_001079821.2:c.2669+704_2669+705insC;NM_001127461.2:c.2498+2571_2498+2572insC;NM_001127462.2:c.2498+704_2498+705insC;NM_001243133.1:c.2663+704_2663+705insC;NM_004895.4:c.2669+704_2669+705insC;NM_183395.2:c.2327+2571_2327+2572insC 41199630 34574180 hCV33568142 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247600163T>G;NG_007509.2:g.25689T>G;NM_001079821.2:c.2669+721T>G;NM_001127461.2:c.2498+2588T>G;NM_001127462.2:c.2498+721T>G;NM_001243133.1:c.2663+721T>G;NM_004895.4:c.2669+721T>G;NM_183395.2:c.2327+2588T>G 210793804 115472362 YRI.trio.3.2010_117441_chr1_245666786 1.80e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600163T>G;NG_007509.2:g.25689T>G;NM_001079821.2:c.2669+721T>G;NM_001127461.2:c.2498+2588T>G;NM_001127462.2:c.2498+721T>G;NM_001243133.1:c.2663+721T>G;NM_004895.4:c.2669+721T>G;NM_183395.2:c.2327+2588T>G 329363856 115472362 20100804_snps_1007392_chr1_247600163 1.80e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 TSC-CSHL 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 2380625 1539019 TSC0415405 3.53e-01 2000.10.20 2004.04.07 2000.10.23 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 6810145 1539019 NT_031730.6_388521 3.53e-01 2003.02.14 2003.10.10 2000.10.23 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 19103512 1539019 CSHL-HuDD-200402.chr1.NT_004836.15_12263665 3.53e-01 2004.02.20 2004.03.04 2000.10.23 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 20530876 1539019 WGSA-200403-chr1.chr1.NT_004836.15_12263665 3.53e-01 2004.03.18 2004.03.18 2000.10.23 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 24278347 1539019 afd4351174 3.53e-01 2004.08.21 2004.09.13 2000.10.23 2012.11.28 137 ABI 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 44025287 1539019 hCV12075420 3.53e-01 2005.07.18 2005.07.18 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 66608122 1539019 HumanHap300v1.1_rs1539019 3.53e-01 2006.11.09 2006.11.09 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 67128240 1539019 HumanHap550v1.1_rs1539019 3.53e-01 2006.11.14 2006.11.14 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 67467555 1539019 HumanHap650Yv1.0_rs1539019 3.53e-01 2006.11.14 2006.11.14 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 70441371 1539019 HumanHap300v2.0_rs1539019 3.53e-01 2007.04.18 2007.11.18 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 70630053 1539019 HumanHap550v3.0__rs1539019 3.53e-01 2007.04.20 2008.03.30 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 71179970 1539019 HumanHap650Yv3.0_rs1539019 3.53e-01 2007.04.23 2007.04.23 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 75472200 1539019 ILMN_Human_1M_rs1539019 3.53e-01 2007.08.29 2007.08.29 2000.10.23 2012.11.28 137 AFFY 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 76644771 1539019 AFFY_6_1M_SNP_A-8506081 3.53e-01 2007.08.30 2007.08.30 2000.10.23 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 83823641 1539019 KHS551547 3.53e-01 2007.12.05 2007.12.05 2000.10.23 2012.11.28 137 HGSV 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 85979422 1539019 Cor19129_SNV_20070510.chr1_243926342 3.53e-01 2007.12.10 2007.12.10 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 98020150 1539019 1103675395148 3.53e-01 2008.03.30 2008.03.30 2000.10.23 2012.11.28 137 BGI 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 106647980 1539019 BGI_rs1539019 3.53e-01 2008.09.17 2009.06.17 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 109136560 1539019 CEU.trio.12.15.2008_293440_chr1_245666924 3.53e-01 2008.12.16 2008.12.16 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 112114557 1539019 NA19240_2008_12_16_266134_chr1_245666924 3.53e-01 2008.12.17 2008.12.17 2000.10.23 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 119287772 1539019 NA18507_000265613_NCBI36.1_chr1_245666924 3.53e-01 2009.01.22 2009.01.22 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 121741812 1539019 HumanCNV370v1_C_rs1539019 3.53e-01 2009.04.14 2009.04.14 2000.10.23 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 143739092 1539019 ENSSNP5354693 3.53e-01 2009.06.06 2009.10.17 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 153500897 1539019 Human610_Quadv1_B_rs1539019-128_B_F_1501673437 3.53e-01 2009.06.19 2009.06.19 2000.10.23 2012.11.28 137 GMI 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 156564021 1539019 GMI_SNP_101156480 3.53e-01 2009.06.25 2009.06.25 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 159282234 1539019 Human660W-Quad_v1_A_rs1539019-128_B_F_1501673437 3.53e-01 2009.07.06 2009.07.06 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 165636498 1539019 NA19240_36_chr1_245666924 3.53e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 165961986 1539019 NA07022_36_chr1_245666924 3.53e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 167597236 1539019 NA20431_36_chr1_245666924 3.53e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 170623687 1539019 HumanCNV370-Quadv3_C_rs1539019-128_B_F_1501673437 3.53e-01 2009.10.01 2009.10.03 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 172566932 1539019 Human1M-Duov3_B_rs1539019-128_B_F_1501673437 3.53e-01 2009.10.02 2009.10.02 2000.10.23 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 199903965 1539019 BUSHMAN-chr1-245666923 3.53e-01 2010.03.07 2010.03.07 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 205190968 1539019 BCM_CMT_1011-75403 3.53e-01 2010.03.15 2010.03.15 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 219005699 1539019 pilot_1_YRI_815382_chr1_245666924 3.53e-01 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 230995496 1539019 pilot_1_CEU_600125_chr1_245666924 3.53e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 238590463 1539019 pilot_1_CHB+JPT_475540_chr1_245666924 3.53e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 244280015 1539019 CVDSNP55v1_A_rs1539019 3.53e-01 2010.06.10 2010.06.10 2000.10.23 2012.11.28 137 BL 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 253949052 1539019 SNP242684_1_245666924 3.53e-01 2010.08.19 2010.08.19 2000.10.23 2012.11.28 137 GMI 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 276310563 1539019 GMI_AK_SNP_630730 3.53e-01 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 PJP 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 290789453 1539019 SNP_295811_chr1_245666924 3.53e-01 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 PAGE_STUDY 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 469996534 1539019 PAGE_CALiCo_Y2_rs1539019 3.53e-01 2011.10.04 2011.10.04 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 482298433 1539019 HumanOmni2.5-4v1_B_SNP1-245666924-0_B_R_1631730608 3.53e-01 2012.02.01 2012.02.01 2000.10.23 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 483061923 1539019 HumanOmni2.5-4v1_D_kgp2845613-0_B_R_1817469367 3.53e-01 2012.02.02 2012.02.02 2000.10.23 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247600301A>C;NG_007509.2:g.25827A>C;NM_001079821.2:c.2669+859A>C;NM_001127461.2:c.2498+2726A>C;NM_001127462.2:c.2498+859A>C;NM_001243133.1:c.2663+859A>C;NM_004895.4:c.2669+859A>C;NM_183395.2:c.2327+2726A>C 491313840 1539019 .GWAS._30067_chr_1_247600301 3.53e-01 2012.03.05 2012.03.05 2000.10.23 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600353C>T;NG_007509.2:g.25879C>T;NM_001079821.2:c.2669+911C>T;NM_001127461.2:c.2498+2778C>T;NM_001127462.2:c.2498+911C>T;NM_001243133.1:c.2663+911C>T;NM_004895.4:c.2669+911C>T;NM_183395.2:c.2327+2778C>T 109136564 72772001 CEU.trio.12.15.2008_293441_chr1_245666976 8.20e-03 2008.12.16 2008.12.16 2009.02.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247600353C>T;NG_007509.2:g.25879C>T;NM_001079821.2:c.2669+911C>T;NM_001127461.2:c.2498+2778C>T;NM_001127462.2:c.2498+911C>T;NM_001243133.1:c.2663+911C>T;NM_004895.4:c.2669+911C>T;NM_183395.2:c.2327+2778C>T 230995497 72772001 pilot_1_CEU_600126_chr1_245666976 8.20e-03 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 ILLUMINA-UK 114548 NC_000001.10:g.247600404A>G;NG_007509.2:g.25930A>G;NM_001079821.2:c.2669+962A>G;NM_001127461.2:c.2498+2829A>G;NM_001127462.2:c.2498+962A>G;NM_001243133.1:c.2663+962A>G;NM_004895.4:c.2669+962A>G;NM_183395.2:c.2327+2829A>G 119287774 74154642 NA18507_000265614_NCBI36.1_chr1_245667027 1.05e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600404A>G;NG_007509.2:g.25930A>G;NM_001079821.2:c.2669+962A>G;NM_001127461.2:c.2498+2829A>G;NM_001127462.2:c.2498+962A>G;NM_001243133.1:c.2663+962A>G;NM_004895.4:c.2669+962A>G;NM_183395.2:c.2327+2829A>G 329363857 74154642 20100804_snps_1007393_chr1_247600404 1.05e-02 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 16454161 10802499 CSHL-HuAA-200402.chr1.NT_004836.15_12263940 9.60e-03 2004.02.17 2006.10.26 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 17372817 10802499 CSHL-HuCC-200402.chr1.NT_004836.15_12263940 9.60e-03 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 19148342 10802499 CSHL-HuDD-200402.chr1.NT_004836.15_12263940 9.60e-03 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 20535111 10802499 WGSA-200403-chr1.chr1.NT_004836.15_12263940 9.60e-03 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 41286412 10802499 hCV31451978 9.60e-03 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 AFFY 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 76754083 10802499 AFFY_6_1M_SNP_A-8615364 9.60e-03 2007.08.30 2007.08.30 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 81293356 10802499 Cor18507_SNV_20070510.chr1_243926617 9.60e-03 2007.11.29 2007.11.29 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 81985497 10802499 Cor18555_SNV_20070510.chr1_243926617 9.60e-03 2007.12.01 2007.12.01 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 82563467 10802499 Cor19240_SNV_20070510.chr1_243926617 9.60e-03 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 84695559 10802499 Cor19129_SNV_20070510.chr1_243926617 9.60e-03 2007.12.07 2007.12.07 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 88051299 10802499 JWB-0217808 9.60e-03 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 98020151 10802499 1103675395149 9.60e-03 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 105013876 10802499 KHS1406199 9.60e-03 2008.07.11 2008.07.11 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 106647981 10802499 BGI_rs10802499 9.60e-03 2008.09.17 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 109136568 10802499 CEU.trio.12.15.2008_293442_chr1_245667199 9.60e-03 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 112114566 10802499 NA19240_2008_12_16_266135_chr1_245667199 9.60e-03 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 119287776 10802499 NA18507_000265615_NCBI36.1_chr1_245667199 9.60e-03 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 131774284 10802499 ENSSNP197713 9.60e-03 2009.05.11 2009.10.14 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 138194279 10802499 ENSSNP6934537 9.60e-03 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 156564028 10802499 GMI_SNP_35975412 9.60e-03 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 165636508 10802499 NA19240_36_chr1_245667199 9.60e-03 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 165961990 10802499 NA07022_36_chr1_245667199 9.60e-03 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 167597238 10802499 NA20431_36_chr1_245667199 9.60e-03 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 199903969 10802499 BUSHMAN-chr1-245667198 9.60e-03 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 205140525 10802499 BCM_CMT_1011-50131 9.60e-03 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 219005700 10802499 pilot_1_YRI_815383_chr1_245667199 9.60e-03 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 230995498 10802499 pilot_1_CEU_600127_chr1_245667199 9.60e-03 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 244270243 10802499 CVDSNP55v1_A_rs10802499 9.60e-03 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 253949055 10802499 SNP242685_1_245667199 9.60e-03 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 276310564 10802499 GMI_AK_SNP_630731 9.60e-03 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247600576G>T;NG_007509.2:g.26102G>T;NM_001079821.2:c.2669+1134G>T;NM_001127461.2:c.2498+3001G>T;NM_001127462.2:c.2498+1134G>T;NM_001243133.1:c.2663+1134G>T;NM_004895.4:c.2669+1134G>T;NM_183395.2:c.2327+3001G>T 290789454 10802499 SNP_295812_chr1_245667199 9.60e-03 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600652G>T;NG_007509.2:g.26178G>T;NM_001079821.2:c.2669+1210G>T;NM_001127461.2:c.2498+3077G>T;NM_001127462.2:c.2498+1210G>T;NM_001243133.1:c.2663+1210G>T;NM_004895.4:c.2669+1210G>T;NM_183395.2:c.2327+3077G>T 454808178 193272023 20101123_snps_975408_chr1_247600652 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 88051302 61841187 JWB-2759468 8.10e-02 2008.02.27 2008.02.27 2008.03.24 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 138194280 61841187 ENSSNP6267496 8.10e-02 2009.05.17 2009.05.17 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 230995499 61841187 pilot_1_CEU_600128_chr1_245667414 8.10e-02 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 238590464 61841187 pilot_1_CHB+JPT_475541_chr1_245667414 8.10e-02 2010.05.01 2010.05.01 2008.03.24 2012.11.28 137 BL 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 253949058 61841187 SNP242686_1_245667414 8.10e-02 2010.08.19 2010.08.19 2008.03.24 2012.11.28 137 GMI 114548 NC_000001.10:g.247600791T>C;NG_007509.2:g.26317T>C;NM_001079821.2:c.2669+1349T>C;NM_001127461.2:c.2498+3216T>C;NM_001127462.2:c.2498+1349T>C;NM_001243133.1:c.2663+1349T>C;NM_004895.4:c.2669+1349T>C;NM_183395.2:c.2327+3216T>C 276310565 61841187 GMI_AK_SNP_630732 8.10e-02 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247600801T>A;NG_007509.2:g.26327T>A;NM_001079821.2:c.2669+1359T>A;NM_001127461.2:c.2498+3226T>A;NM_001127462.2:c.2498+1359T>A;NM_001243133.1:c.2663+1359T>A;NM_004895.4:c.2669+1359T>A;NM_183395.2:c.2327+3226T>A 454808179 185066534 20101123_snps_975409_chr1_247600801 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247600813G>T;NG_007509.2:g.26339G>T;NM_001079821.2:c.2669+1371G>T;NM_001127461.2:c.2498+3238G>T;NM_001127462.2:c.2498+1371G>T;NM_001243133.1:c.2663+1371G>T;NM_004895.4:c.2669+1371G>T;NM_183395.2:c.2327+3238G>T 230995500 114917495 pilot_1_CEU_600129_chr1_245667436 5.00e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247600857C>T;NG_007509.2:g.26383C>T;NM_001079821.2:c.2669+1415C>T;NM_001127461.2:c.2498+3282C>T;NM_001127462.2:c.2498+1415C>T;NM_001243133.1:c.2663+1415C>T;NM_004895.4:c.2669+1415C>T;NM_183395.2:c.2327+3282C>T 454808180 188781760 20101123_snps_975410_chr1_247600857 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247600998C>T;NG_007509.2:g.26524C>T;NM_001079821.2:c.2669+1556C>T;NM_001127461.2:c.2498+3423C>T;NM_001127462.2:c.2498+1556C>T;NM_001243133.1:c.2663+1556C>T;NM_004895.4:c.2669+1556C>T;NM_183395.2:c.2327+3423C>T 230995501 77123264 pilot_1_CEU_600130_chr1_245667621 5.50e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247601034G>A;NG_007509.2:g.26560G>A;NM_001079821.2:c.2669+1592G>A;NM_001127461.2:c.2498+3459G>A;NM_001127462.2:c.2498+1592G>A;NM_001243133.1:c.2663+1592G>A;NM_004895.4:c.2669+1592G>A;NM_183395.2:c.2327+3459G>A 219005701 114765517 pilot_1_YRI_815384_chr1_245667657 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601034G>A;NG_007509.2:g.26560G>A;NM_001079821.2:c.2669+1592G>A;NM_001127461.2:c.2498+3459G>A;NM_001127462.2:c.2498+1592G>A;NM_001243133.1:c.2663+1592G>A;NM_004895.4:c.2669+1592G>A;NM_183395.2:c.2327+3459G>A 480962734 114765517 HumanOmni2.5-4v1_D_kgp15855385-0_B_R_1838239568 1.51e-02 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601034G>A;NG_007509.2:g.26560G>A;NM_001079821.2:c.2669+1592G>A;NM_001127461.2:c.2498+3459G>A;NM_001127462.2:c.2498+1592G>A;NM_001243133.1:c.2663+1592G>A;NM_004895.4:c.2669+1592G>A;NM_183395.2:c.2327+3459G>A 482298436 114765517 HumanOmni2.5-4v1_B_SNP1-245667657-0_B_R_1648358535 1.51e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601042A>G;NG_007509.2:g.26568A>G;NM_001079821.2:c.2669+1600A>G;NM_001127461.2:c.2498+3467A>G;NM_001127462.2:c.2498+1600A>G;NM_001243133.1:c.2663+1600A>G;NM_004895.4:c.2669+1600A>G;NM_183395.2:c.2327+3467A>G 329363858 138762431 20100804_snps_1007394_chr1_247601042 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247601047C>T;NG_007509.2:g.26573C>T;NM_001079821.2:c.2669+1605C>T;NM_001127461.2:c.2498+3472C>T;NM_001127462.2:c.2498+1605C>T;NM_001243133.1:c.2663+1605C>T;NM_004895.4:c.2669+1605C>T;NM_183395.2:c.2327+3472C>T 199903973 111769924 BUSHMAN-chr1-245667669 2.70e-03 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247601047C>T;NG_007509.2:g.26573C>T;NM_001079821.2:c.2669+1605C>T;NM_001127461.2:c.2498+3472C>T;NM_001127462.2:c.2498+1605C>T;NM_001243133.1:c.2663+1605C>T;NM_004895.4:c.2669+1605C>T;NM_183395.2:c.2327+3472C>T 329363859 111769924 20100804_snps_1007395_chr1_247601047 2.70e-03 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 18207900 10925025 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12264524 3.16e-01 2004.02.20 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 18294379 10925025 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12264524 3.16e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 AFFY 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 76855280 10925025 AFFY_6_1M_SNP_A-8716850 3.16e-01 2007.08.30 2007.08.30 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 88051305 10925025 JWB-0217809 3.16e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 105018188 10925025 KHS1410511 3.16e-01 2008.07.11 2008.07.11 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 109136573 10925025 CEU.trio.12.15.2008_293443_chr1_245667783 3.16e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 112114573 10925025 NA19240_2008_12_16_266136_chr1_245667783 3.16e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 138194281 10925025 ENSSNP11747583 3.16e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 156564035 10925025 GMI_SNP_238674513 3.16e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 165636517 10925025 NA19240_36_chr1_245667783 3.16e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 167597240 10925025 NA20431_36_chr1_245667783 3.16e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 199903977 10925025 BUSHMAN-chr1-245667782 3.16e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 219005702 10925025 pilot_1_YRI_815385_chr1_245667783 3.16e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 230995502 10925025 pilot_1_CEU_600131_chr1_245667783 3.16e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 238590465 10925025 pilot_1_CHB+JPT_475542_chr1_245667783 3.16e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 253949061 10925025 SNP242687_1_245667783 3.16e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 276310566 10925025 GMI_AK_SNP_630733 3.16e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247601160G>A;NG_007509.2:g.26686G>A;NM_001079821.2:c.2669+1718G>A;NM_001127461.2:c.2498+3585G>A;NM_001127462.2:c.2498+1718G>A;NM_001243133.1:c.2663+1718G>A;NM_004895.4:c.2669+1718G>A;NM_183395.2:c.2327+3585G>A 290789455 10925025 SNP_295813_chr1_245667783 3.16e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601236C>G;NG_007509.2:g.26762C>G;NM_001079821.2:c.2669+1794C>G;NM_001127461.2:c.2498+3661C>G;NM_001127462.2:c.2498+1794C>G;NM_001243133.1:c.2663+1794C>G;NM_004895.4:c.2669+1794C>G;NM_183395.2:c.2327+3661C>G 219005703 76082842 pilot_1_YRI_815386_chr1_245667859 1.14e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247601329G>A;NG_007509.2:g.26855G>A;NM_001079821.2:c.2669+1887G>A;NM_001127461.2:c.2498+3754G>A;NM_001127462.2:c.2498+1887G>A;NM_001243133.1:c.2663+1887G>A;NM_004895.4:c.2669+1887G>A;NM_183395.2:c.2327+3754G>A 454808181 192648648 20101123_snps_975411_chr1_247601329 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247601335A>G;NG_007509.2:g.26861A>G;NM_001079821.2:c.2669+1893A>G;NM_001127461.2:c.2498+3760A>G;NM_001127462.2:c.2498+1893A>G;NM_001243133.1:c.2663+1893A>G;NM_004895.4:c.2669+1893A>G;NM_183395.2:c.2327+3760A>G 329363860 144666480 20100804_snps_1007396_chr1_247601335 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 18294489 12143966 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12264721 3.77e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 20559485 12143966 WGSA-200403-chr1.chr1.NT_004836.15_12264721 3.77e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 43839701 12143966 hCV26646032 3.77e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 66302759 12143966 SNP_A-1850665 3.77e-01 2006.10.29 2008.03.31 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 75975843 12143966 AFFY_6_1M_SNP_A-1850665 3.77e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 82956894 12143966 KHS362591 3.77e-01 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 106647982 12143966 BGI_rs12143966 3.77e-01 2008.09.17 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 109136578 12143966 CEU.trio.12.15.2008_293444_chr1_245667980 3.77e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 144233561 12143966 ENSSNP5594624 3.77e-01 2009.06.06 2009.10.17 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 156564042 12143966 GMI_SNP_71575830 3.77e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 167597242 12143966 NA20431_36_chr1_245667980 3.77e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 169910105 12143966 GenomeWideSNP_5_SNP_A-1850665 3.77e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 205045336 12143966 BCM_CMT_1011-3501 3.77e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 219005704 12143966 pilot_1_YRI_815387_chr1_245667980 3.77e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 230995503 12143966 pilot_1_CEU_600132_chr1_245667980 3.77e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 238590466 12143966 pilot_1_CHB+JPT_475543_chr1_245667980 3.77e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 253949064 12143966 SNP242688_1_245667980 3.77e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 276310567 12143966 GMI_AK_SNP_630734 3.77e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247601357G>A;NG_007509.2:g.26883G>A;NM_001079821.2:c.2669+1915G>A;NM_001127461.2:c.2498+3782G>A;NM_001127462.2:c.2498+1915G>A;NM_001243133.1:c.2663+1915G>A;NM_004895.4:c.2669+1915G>A;NM_183395.2:c.2327+3782G>A 290789456 12143966 SNP_295814_chr1_245667980 3.77e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 18607331 12239046 SC-CHR9-12_NA17119-200402.chr1.NT_004836.15_12264959 4.02e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 20473352 12239046 WGSA-200403-chr1.chr1.NT_004836.15_12264959 4.02e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 68800570 12239046 PGP05401140 4.02e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 76590238 12239046 AFFY_6_1M_SNP_A-8451281 4.02e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 81166374 12239046 Cor18507_SNV_20070510.chr1_243927636 4.02e-01 2007.11.28 2007.11.28 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 81694547 12239046 Cor18956_SNV_20070510.chr1_243927636 4.02e-01 2007.12.01 2007.12.01 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 98020152 12239046 1103675395150 4.02e-01 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 105050245 12239046 KHS1442568 4.02e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 BGI 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 106647983 12239046 BGI_rs12239046 4.02e-01 2008.09.17 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 109136580 12239046 CEU.trio.12.15.2008_293445_chr1_245668218 4.02e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 112114581 12239046 NA19240_2008_12_16_266137_chr1_245668218 4.02e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 119287778 12239046 NA18507_000265616_NCBI36.1_chr1_245668218 4.02e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 143029994 12239046 ENSSNP4813338 4.02e-01 2009.06.05 2009.10.16 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 156564047 12239046 GMI_SNP_72346567 4.02e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 165636527 12239046 NA19240_36_chr1_245668218 4.02e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 165961991 12239046 NA07022_36_chr1_245668218 4.02e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 167597244 12239046 NA20431_36_chr1_245668218 4.02e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 199903981 12239046 BUSHMAN-chr1-245668217 4.02e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 205044376 12239046 BCM_CMT_1011-3021 4.02e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 219005705 12239046 pilot_1_YRI_815388_chr1_245668218 4.02e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 230995504 12239046 pilot_1_CEU_600133_chr1_245668218 4.02e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 238590467 12239046 pilot_1_CHB+JPT_475544_chr1_245668218 4.02e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 244275720 12239046 CVDSNP55v1_A_rs12239046 4.02e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 253949066 12239046 SNP242689_1_245668218 4.02e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 276310568 12239046 GMI_AK_SNP_630735 4.02e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 290789457 12239046 SNP_295815_chr1_245668218 4.02e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 482298439 12239046 HumanOmni2.5-4v1_B_SNP1-245668218-0_B_F_1618210287 4.02e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 483543615 12239046 HumanOmni2.5-4v1_D_kgp545677-0_B_F_1818719417 4.02e-01 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247601595T>C;NG_007509.2:g.27121T>C;NM_001079821.2:c.2669+2153T>C;NM_001127461.2:c.2498+4020T>C;NM_001127462.2:c.2498+2153T>C;NM_001243133.1:c.2663+2153T>C;NM_004895.4:c.2669+2153T>C;NM_183395.2:c.2327+4020T>C 491313841 12239046 .GWAS._30068_chr_1_247601595 4.02e-01 2012.03.05 2012.03.05 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247601641C>G;NG_007509.2:g.27167C>G;NM_001079821.2:c.2669+2199C>G;NM_001127461.2:c.2498+4066C>G;NM_001127462.2:c.2498+2199C>G;NM_001243133.1:c.2663+2199C>G;NM_004895.4:c.2669+2199C>G;NM_183395.2:c.2327+4066C>G 276310569 202211595 GMI_AK_SNP_630736 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247601676_247601677insTG;NG_007509.2:g.27202_27203insTG;NM_001079821.2:c.2669+2234_2669+2235insTG;NM_001127461.2:c.2498+4101_2498+4102insTG;NM_001127462.2:c.2498+2234_2498+2235insTG;NM_001243133.1:c.2663+2234_2663+2235insTG;NM_004895.4:c.2669+2234_2669+2235insTG;NM_183395.2:c.2327+4101_2327+4102insTG 499190883 201160513 20110316_indels_chr1_247601676_247601677 2.93e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247601681_247601683delTTT;NG_007509.2:g.27207_27209delTTT;NM_001079821.2:c.2669+2239_2669+2241delTTT;NM_001127461.2:c.2498+4106_2498+4108delTTT;NM_001127462.2:c.2498+2239_2498+2241delTTT;NM_001243133.1:c.2663+2239_2663+2241delTTT;NM_004895.4:c.2669+2239_2669+2241delTTT;NM_183395.2:c.2327+4106_2327+4108delTTT 79751514 57348061 Cor18507_DIV_20070510.chr1_243927741-243927745_1 2007.11.23 2007.11.23 2007.12.14 2011.07.08 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247601681_247601682delTT;NG_007509.2:g.27207_27208delTT;NM_001079821.2:c.2669+2239_2669+2240delTT;NM_001127461.2:c.2498+4106_2498+4107delTT;NM_001127462.2:c.2498+2239_2498+2240delTT;NM_001243133.1:c.2663+2239_2663+2240delTT;NM_004895.4:c.2669+2239_2669+2240delTT;NM_183395.2:c.2327+4106_2327+4107delTT 95261590 74163772 1104685304934 2008.03.21 2008.12.02 2009.02.15 2011.07.08 137 PJP 114548 NC_000001.10:g.247601681delT;NG_007509.2:g.27207delT;NM_001079821.2:c.2669+2239delT;NM_001127461.2:c.2498+4106delT;NM_001127462.2:c.2498+2239delT;NM_001243133.1:c.2663+2239delT;NM_004895.4:c.2669+2239delT;NM_183395.2:c.2327+4106delT 294636725 149045080 DIP_74429_chr1_245668304 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601682T>G;NG_007509.2:g.27208T>G;NM_001079821.2:c.2669+2240T>G;NM_001127461.2:c.2498+4107T>G;NM_001127462.2:c.2498+2240T>G;NM_001243133.1:c.2663+2240T>G;NM_004895.4:c.2669+2240T>G;NM_183395.2:c.2327+4107T>G 165636536 112854984 NA19240_36_chr1_245668305 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601682T>G;NG_007509.2:g.27208T>G;NM_001079821.2:c.2669+2240T>G;NM_001127461.2:c.2498+4107T>G;NM_001127462.2:c.2498+2240T>G;NM_001243133.1:c.2663+2240T>G;NM_004895.4:c.2669+2240T>G;NM_183395.2:c.2327+4107T>G 167597246 112854984 NA20431_36_chr1_245668305 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247601682T>G;NG_007509.2:g.27208T>G;NM_001079821.2:c.2669+2240T>G;NM_001127461.2:c.2498+4107T>G;NM_001127462.2:c.2498+2240T>G;NM_001243133.1:c.2663+2240T>G;NM_004895.4:c.2669+2240T>G;NM_183395.2:c.2327+4107T>G 199903983 112854984 BUSHMAN-chr1-245668304 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 BL 114548 NC_000001.10:g.247601682T>G;NG_007509.2:g.27208T>G;NM_001079821.2:c.2669+2240T>G;NM_001127461.2:c.2498+4107T>G;NM_001127462.2:c.2498+2240T>G;NM_001243133.1:c.2663+2240T>G;NM_004895.4:c.2669+2240T>G;NM_183395.2:c.2327+4107T>G 253949069 112854984 SNP242690_1_245668305 2010.08.19 2010.08.19 2010.07.04 2012.11.28 137 GMI 114548 NC_000001.10:g.247601682T>G;NG_007509.2:g.27208T>G;NM_001079821.2:c.2669+2240T>G;NM_001127461.2:c.2498+4107T>G;NM_001127462.2:c.2498+2240T>G;NM_001243133.1:c.2663+2240T>G;NM_004895.4:c.2669+2240T>G;NM_183395.2:c.2327+4107T>G 276310570 112854984 GMI_AK_SNP_630737 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601692_247601693insTG;NG_007509.2:g.27218_27219insTG;NM_001079821.2:c.2669+2250_2669+2251insTG;NM_001127461.2:c.2498+4117_2498+4118insTG;NM_001127462.2:c.2498+2250_2498+2251insTG;NM_001243133.1:c.2663+2250_2663+2251insTG;NM_004895.4:c.2669+2250_2669+2251insTG;NM_183395.2:c.2327+4117_2327+4118insTG 499190887 201700441 20110316_indels_chr1_247601692_247601693 3.48e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601749A>C;NG_007509.2:g.27275A>C;NM_001079821.2:c.2669+2307A>C;NM_001127461.2:c.2498+4174A>C;NM_001127462.2:c.2498+2307A>C;NM_001243133.1:c.2663+2307A>C;NM_004895.4:c.2669+2307A>C;NM_183395.2:c.2327+4174A>C 165636544 113705187 NA19240_36_chr1_245668372 1.05e-01 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247601749A>C;NG_007509.2:g.27275A>C;NM_001079821.2:c.2669+2307A>C;NM_001127461.2:c.2498+4174A>C;NM_001127462.2:c.2498+2307A>C;NM_001243133.1:c.2663+2307A>C;NM_004895.4:c.2669+2307A>C;NM_183395.2:c.2327+4174A>C 199903989 113705187 BUSHMAN-chr1-245668371 1.05e-01 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247601749A>C;NG_007509.2:g.27275A>C;NM_001079821.2:c.2669+2307A>C;NM_001127461.2:c.2498+4174A>C;NM_001127462.2:c.2498+2307A>C;NM_001243133.1:c.2663+2307A>C;NM_004895.4:c.2669+2307A>C;NM_183395.2:c.2327+4174A>C 329363861 113705187 20100804_snps_1007397_chr1_247601749 1.05e-01 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 HGSV 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 80673433 58546652 Cor18507_SNV_20070510.chr1_243927819 4.03e-01 2007.11.26 2007.11.26 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 86181421 58546652 Cor18956_SNV_20070510.chr1_243927819 4.03e-01 2007.12.11 2007.12.11 2007.12.15 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 98020153 58546652 1103675395152 4.03e-01 2008.03.30 2008.03.30 2007.12.15 2012.11.28 137 BGI 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 106647984 58546652 BGI_YHSNP0155530 4.03e-01 2008.09.17 2009.06.17 2007.12.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 144065843 58546652 ENSSNP10054457 4.03e-01 2009.06.06 2009.10.17 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 165636554 58546652 NA19240_36_chr1_245668401 4.03e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 165961996 58546652 NA07022_36_chr1_245668401 4.03e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 167597248 58546652 NA20431_36_chr1_245668401 4.03e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 199903992 58546652 BUSHMAN-chr1-245668400 4.03e-01 2010.03.07 2010.03.07 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 205454449 58546652 BCM_CMT_1011-206265 4.03e-01 2010.03.16 2010.03.16 2007.12.15 2012.11.28 137 BL 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 253949071 58546652 SNP242691_1_245668401 4.03e-01 2010.08.19 2010.08.19 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 276310571 58546652 GMI_AK_SNP_630738 4.03e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 PJP 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 290789458 58546652 SNP_295816_chr1_245668401 4.03e-01 2011.01.21 2011.01.21 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601778C>T;NG_007509.2:g.27304C>T;NM_001079821.2:c.2669+2336C>T;NM_001127461.2:c.2498+4203C>T;NM_001127462.2:c.2498+2336C>T;NM_001243133.1:c.2663+2336C>T;NM_004895.4:c.2669+2336C>T;NM_183395.2:c.2327+4203C>T 329363862 58546652 20100804_snps_1007398_chr1_247601778 4.03e-01 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 ABI 114548 NC_000001.10:g.247601808_247601809insC;NG_007509.2:g.27334_27335insC;NM_001079821.2:c.2669+2366_2669+2367insC;NM_001127461.2:c.2498+4233_2498+4234insC;NM_001127462.2:c.2498+2366_2498+2367insC;NM_001243133.1:c.2663+2366_2663+2367insC;NM_004895.4:c.2669+2366_2669+2367insC;NM_183395.2:c.2327+4233_2327+4234insC 41213053 36126096 hCV33568143 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247601819G>C;NG_007509.2:g.27345G>C;NM_001079821.2:c.2669+2377G>C;NM_001127461.2:c.2498+4244G>C;NM_001127462.2:c.2498+2377G>C;NM_001243133.1:c.2663+2377G>C;NM_004895.4:c.2669+2377G>C;NM_183395.2:c.2327+4244G>C 18296162 12144873 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12265183 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 HGSV 114548 NC_000001.10:g.247601874C>T;NG_007509.2:g.27400C>T;NM_001079821.2:c.2669+2432C>T;NM_001127461.2:c.2498+4299C>T;NM_001127462.2:c.2498+2432C>T;NM_001243133.1:c.2663+2432C>T;NM_004895.4:c.2669+2432C>T;NM_183395.2:c.2327+4299C>T 81506664 60408255 Cor18956_SNV_20070510.chr1_243927915 9.00e-04 2007.11.30 2007.11.30 2007.12.15 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247601874C>T;NG_007509.2:g.27400C>T;NM_001079821.2:c.2669+2432C>T;NM_001127461.2:c.2498+4299C>T;NM_001127462.2:c.2498+2432C>T;NM_001243133.1:c.2663+2432C>T;NM_004895.4:c.2669+2432C>T;NM_183395.2:c.2327+4299C>T 454808182 60408255 20101123_snps_975412_chr1_247601874 9.00e-04 2011.07.20 2011.07.20 2007.12.15 2011.10.06 137 HGSV 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 78874705 56015600 Cor18507_SNV_20070510.chr1_243927927 4.53e-01 2007.10.21 2007.10.21 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 82805621 56015600 Cor18956_SNV_20070510.chr1_243927927 4.53e-01 2007.12.03 2007.12.03 2007.12.07 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 98020154 56015600 1103675395153 4.53e-01 2008.03.30 2008.03.30 2007.12.07 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 119287780 56015600 NA18507_000265617_NCBI36.1_chr1_245668509 4.53e-01 2009.01.22 2009.01.22 2007.12.07 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 143351523 56015600 ENSSNP8416935 4.53e-01 2009.06.06 2009.10.19 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 165636562 56015600 NA19240_36_chr1_245668509 4.53e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 165961998 56015600 NA07022_36_chr1_245668509 4.53e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 167597250 56015600 NA20431_36_chr1_245668509 4.53e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 199903997 56015600 BUSHMAN-chr1-245668508 4.53e-01 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 205234262 56015600 BCM_CMT_1011-96872 4.53e-01 2010.03.15 2010.03.15 2007.12.07 2012.11.28 137 BL 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 253949075 56015600 SNP242692_1_245668509 4.53e-01 2010.08.19 2010.08.19 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 276310572 56015600 GMI_AK_SNP_630739 4.53e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 PJP 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 290789459 56015600 SNP_295817_chr1_245668509 4.53e-01 2011.01.21 2011.01.21 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601886A>G;NG_007509.2:g.27412A>G;NM_001079821.2:c.2669+2444A>G;NM_001127461.2:c.2498+4311A>G;NM_001127462.2:c.2498+2444A>G;NM_001243133.1:c.2663+2444A>G;NM_004895.4:c.2669+2444A>G;NM_183395.2:c.2327+4311A>G 329363863 56015600 20100804_snps_1007399_chr1_247601886 4.53e-01 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601892G>A;NG_007509.2:g.27418G>A;NM_001079821.2:c.2669+2450G>A;NM_001127461.2:c.2498+4317G>A;NM_001127462.2:c.2498+2450G>A;NM_001243133.1:c.2663+2450G>A;NM_004895.4:c.2669+2450G>A;NM_183395.2:c.2327+4317G>A 454808183 188130451 20101123_snps_975413_chr1_247601892 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247601965C>T;NG_007509.2:g.27491C>T;NM_001079821.2:c.2669+2523C>T;NM_001127461.2:c.2498+4390C>T;NM_001127462.2:c.2498+2523C>T;NM_001243133.1:c.2663+2523C>T;NM_004895.4:c.2669+2523C>T;NM_183395.2:c.2327+4390C>T 230995505 114193355 pilot_1_CEU_600134_chr1_245668588 4.21e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601965C>T;NG_007509.2:g.27491C>T;NM_001079821.2:c.2669+2523C>T;NM_001127461.2:c.2498+4390C>T;NM_001127462.2:c.2498+2523C>T;NM_001243133.1:c.2663+2523C>T;NM_004895.4:c.2669+2523C>T;NM_183395.2:c.2327+4390C>T 479361437 114193355 HumanOmni2.5-4v1_D_kgp10562352-0_T_R_1821136268 4.21e-02 2012.01.30 2012.01.30 2010.07.14 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247601965C>T;NG_007509.2:g.27491C>T;NM_001079821.2:c.2669+2523C>T;NM_001127461.2:c.2498+4390C>T;NM_001127462.2:c.2498+2523C>T;NM_001243133.1:c.2663+2523C>T;NM_004895.4:c.2669+2523C>T;NM_183395.2:c.2327+4390C>T 482298442 114193355 HumanOmni2.5-4v1_B_SNP1-245668588-0_T_R_1631730361 4.21e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247601980C>T;NG_007509.2:g.27506C>T;NM_001079821.2:c.2669+2538C>T;NM_001127461.2:c.2498+4405C>T;NM_001127462.2:c.2498+2538C>T;NM_001243133.1:c.2663+2538C>T;NM_004895.4:c.2669+2538C>T;NM_183395.2:c.2327+4405C>T 329363864 140926579 20100804_snps_1007400_chr1_247601980 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247602088C>A;NG_007509.2:g.27614C>A;NM_001079821.2:c.2669+2646C>A;NM_001127461.2:c.2498+4513C>A;NM_001127462.2:c.2498+2646C>A;NM_001243133.1:c.2663+2646C>A;NM_004895.4:c.2669+2646C>A;NM_183395.2:c.2327+4513C>A 454808184 180672827 20101123_snps_975414_chr1_247602088 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247602161G>C;NG_007509.2:g.27687G>C;NM_001079821.2:c.2669+2719G>C;NM_001127461.2:c.2498+4586G>C;NM_001127462.2:c.2498+2719G>C;NM_001243133.1:c.2663+2719G>C;NM_004895.4:c.2669+2719G>C;NM_183395.2:c.2327+4586G>C 112114606 73140556 NA19240_2008_12_16_266140_chr1_245668784 3.57e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602161G>C;NG_007509.2:g.27687G>C;NM_001079821.2:c.2669+2719G>C;NM_001127461.2:c.2498+4586G>C;NM_001127462.2:c.2498+2719G>C;NM_001243133.1:c.2663+2719G>C;NM_004895.4:c.2669+2719G>C;NM_183395.2:c.2327+4586G>C 165636571 73140556 NA19240_36_chr1_245668784 3.57e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602161G>C;NG_007509.2:g.27687G>C;NM_001079821.2:c.2669+2719G>C;NM_001127461.2:c.2498+4586G>C;NM_001127462.2:c.2498+2719G>C;NM_001243133.1:c.2663+2719G>C;NM_004895.4:c.2669+2719G>C;NM_183395.2:c.2327+4586G>C 219005706 73140556 pilot_1_YRI_815389_chr1_245668784 3.57e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602201A>G;NG_007509.2:g.27727A>G;NM_001079821.2:c.2669+2759A>G;NM_001127461.2:c.2498+4626A>G;NM_001127462.2:c.2498+2759A>G;NM_001243133.1:c.2663+2759A>G;NM_004895.4:c.2669+2759A>G;NM_183395.2:c.2327+4626A>G 230995506 78810089 pilot_1_CEU_600135_chr1_245668824 5.91e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247602249T>G;NG_007509.2:g.27775T>G;NM_001079821.2:c.2669+2807T>G;NM_001127461.2:c.2498+4674T>G;NM_001127462.2:c.2498+2807T>G;NM_001243133.1:c.2663+2807T>G;NM_004895.4:c.2669+2807T>G;NM_183395.2:c.2327+4674T>G 329363865 144784862 20100804_snps_1007401_chr1_247602249 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 98020155 67090117 1103675395154 3.74e-01 2008.03.30 2008.03.30 2009.02.05 2012.11.28 137 BGI 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 106647985 67090117 BGI_YHSNP0155531 3.74e-01 2008.09.17 2009.06.17 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 109136592 67090117 CEU.trio.12.15.2008_293448_chr1_245668931 3.74e-01 2008.12.16 2008.12.16 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 112114615 67090117 NA19240_2008_12_16_266141_chr1_245668931 3.74e-01 2008.12.17 2008.12.17 2009.02.05 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 119287781 67090117 NA18507_000265618_NCBI36.1_chr1_245668931 3.74e-01 2009.01.22 2009.01.22 2009.02.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 138997911 67090117 ENSSNP197714 3.74e-01 2009.05.18 2009.10.16 2009.02.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 165636580 67090117 NA19240_36_chr1_245668931 3.74e-01 2009.09.30 2009.09.30 2009.02.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 165962001 67090117 NA07022_36_chr1_245668931 3.74e-01 2009.09.30 2009.09.30 2009.02.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 167597252 67090117 NA20431_36_chr1_245668931 3.74e-01 2009.09.30 2009.09.30 2009.02.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 199904001 67090117 BUSHMAN-chr1-245668930 3.74e-01 2010.03.07 2010.03.07 2009.02.05 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 205157496 67090117 BCM_CMT_1011-58602 3.74e-01 2010.03.15 2010.03.15 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 219005707 67090117 pilot_1_YRI_815390_chr1_245668931 3.74e-01 2010.04.22 2010.04.22 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 230995507 67090117 pilot_1_CEU_600136_chr1_245668931 3.74e-01 2010.05.01 2010.05.01 2009.02.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 238590468 67090117 pilot_1_CHB+JPT_475545_chr1_245668931 3.74e-01 2010.05.01 2010.05.01 2009.02.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 276310573 67090117 GMI_AK_SNP_630740 3.74e-01 2010.12.16 2010.12.16 2009.02.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247602308T>G;NG_007509.2:g.27834T>G;NM_001079821.2:c.2669+2866T>G;NM_001127461.2:c.2498+4733T>G;NM_001127462.2:c.2498+2866T>G;NM_001243133.1:c.2663+2866T>G;NM_004895.4:c.2669+2866T>G;NM_183395.2:c.2327+4733T>G 290789460 67090117 SNP_295818_chr1_245668931 3.74e-01 2011.01.21 2011.01.21 2009.02.05 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247602316G>A;NG_007509.2:g.27842G>A;NM_001079821.2:c.2669+2874G>A;NM_001127461.2:c.2498+4741G>A;NM_001127462.2:c.2498+2874G>A;NM_001243133.1:c.2663+2874G>A;NM_004895.4:c.2669+2874G>A;NM_183395.2:c.2327+4741G>A 119287784 74154643 NA18507_000265619_NCBI36.1_chr1_245668939 6.00e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602316G>A;NG_007509.2:g.27842G>A;NM_001079821.2:c.2669+2874G>A;NM_001127461.2:c.2498+4741G>A;NM_001127462.2:c.2498+2874G>A;NM_001243133.1:c.2663+2874G>A;NM_004895.4:c.2669+2874G>A;NM_183395.2:c.2327+4741G>A 230995508 74154643 pilot_1_CEU_600137_chr1_245668939 6.00e-02 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 BL 114548 NC_000001.10:g.247602316G>A;NG_007509.2:g.27842G>A;NM_001079821.2:c.2669+2874G>A;NM_001127461.2:c.2498+4741G>A;NM_001127462.2:c.2498+2874G>A;NM_001243133.1:c.2663+2874G>A;NM_004895.4:c.2669+2874G>A;NM_183395.2:c.2327+4741G>A 253949078 74154643 SNP242693_1_245668939 6.00e-02 2010.08.19 2010.08.19 2009.02.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247602316G>A;NG_007509.2:g.27842G>A;NM_001079821.2:c.2669+2874G>A;NM_001127461.2:c.2498+4741G>A;NM_001127462.2:c.2498+2874G>A;NM_001243133.1:c.2663+2874G>A;NM_004895.4:c.2669+2874G>A;NM_183395.2:c.2327+4741G>A 276310574 74154643 GMI_AK_SNP_630741 6.00e-02 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247602319_247602320insATCCATCC;NG_007509.2:g.27845_27846insATCCATCC;NM_001079821.2:c.2669+2877_2669+2878insATCCATCC;NM_001127461.2:c.2498+4744_2498+4745insATCCATCC;NM_001127462.2:c.2498+2877_2498+2878insATCCATCC;NM_001243133.1:c.2663+2877_2663+2878insATCCATCC;NM_004895.4:c.2669+2877_2669+2878insATCCATCC;NM_183395.2:c.2327+4744_2327+4745insATCCATCC 98584929 71568614 1103675395151 2008.04.01 2008.04.01 2009.02.13 2011.09.09 137 BL 114548 NC_000001.10:g.247602319A>C;NG_007509.2:g.27845A>C;NM_001079821.2:c.2669+2877A>C;NM_001127461.2:c.2498+4744A>C;NM_001127462.2:c.2498+2877A>C;NM_001243133.1:c.2663+2877A>C;NM_004895.4:c.2669+2877A>C;NM_183395.2:c.2327+4744A>C 253949080 150798393 SNP242694_1_245668942 2010.08.19 2010.08.19 2011.05.09 2012.11.28 137 GMI 114548 NC_000001.10:g.247602319A>C;NG_007509.2:g.27845A>C;NM_001079821.2:c.2669+2877A>C;NM_001127461.2:c.2498+4744A>C;NM_001127462.2:c.2498+2877A>C;NM_001243133.1:c.2663+2877A>C;NM_004895.4:c.2669+2877A>C;NM_183395.2:c.2327+4744A>C 276310575 150798393 GMI_AK_SNP_630742 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247602322_247602323insCCATCCAT;NG_007509.2:g.27848_27849insCCATCCAT;NM_001079821.2:c.2669+2880_2669+2881insCCATCCAT;NM_001127461.2:c.2498+4747_2498+4748insCCATCCAT;NM_001127462.2:c.2498+2880_2498+2881insCCATCCAT;NM_001243133.1:c.2663+2880_2663+2881insCCATCCAT;NM_004895.4:c.2669+2880_2669+2881insCCATCCAT;NM_183395.2:c.2327+4747_2327+4748insCCATCCAT 101593323 72220402 INDEL_GP36_2008a_1629005_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 CSHL-HAPMAP 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 16420274 10802500 CSHL-HuAA-200402.chr1.NT_004836.15_12265711 variation has been flagged as failed by submitter 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 18094556 10802500 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12265711 variation has been flagged as failed by submitter 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 18608482 10802500 SC-CHR9-12_NA17119-200402.chr1.NT_004836.15_12265711 variation has been flagged as failed by submitter 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247602347_247602348insATCCATCT;NC_000001.10:g.247602347_247602348insCATCCATC;NG_007509.2:g.27873_27874insATCCATCT;NG_007509.2:g.27873_27874insCATCCATC;NM_001079821.2:c.2669+2905_2669+2906insATCCATCT;NM_001079821.2:c.2669+2905_2669+2906insCATCCATC;NM_001127461.2:c.2498+4772_2498+4773insATCCATCT;NM_001127461.2:c.2498+4772_2498+4773insCATCCATC;NM_001127462.2:c.2498+2905_2498+2906insATCCATCT;NM_001127462.2:c.2498+2905_2498+2906insCATCCATC;NM_001243133.1:c.2663+2905_2663+2906insATCCATCT;NM_001243133.1:c.2663+2905_2663+2906insCATCCATC;NM_004895.4:c.2669+2905_2669+2906insATCCATCT;NM_004895.4:c.2669+2905_2669+2906insCATCCATC;NM_183395.2:c.2327+4772_2327+4773insATCCATCT;NM_183395.2:c.2327+4772_2327+4773insCATCCATC 101011678 72082521 INDEL_GP36_2008a_1784357_0 2008.05.17 2008.05.17 2009.02.13 2012.05.16 137 ILLUMINA-UK 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 119287786 10802500 NA18507_000265620_NCBI36.1_chr1_245668970 variation has been flagged as failed by submitter 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 156564055 10802500 GMI_SNP_198465318 variation has been flagged as failed by submitter 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 161240006 10802500 ENSSNP197715 variation has been flagged as failed by submitter 2009.09.24 2009.09.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 165962005 10802500 NA07022_36_chr1_245668970 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 199904005 10802500 BUSHMAN-chr1-245668969 variation has been flagged as failed by submitter 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 205480566 10802500 BCM_CMT_1011-219378 variation has been flagged as failed by submitter 2010.03.16 2010.03.16 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 253949083 10802500 SNP242695_1_245668970 variation has been flagged as failed by submitter 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247602347C>T;NG_007509.2:g.27873C>T;NM_001079821.2:c.2669+2905C>T;NM_001127461.2:c.2498+4772C>T;NM_001127462.2:c.2498+2905C>T;NM_001243133.1:c.2663+2905C>T;NM_004895.4:c.2669+2905C>T;NM_183395.2:c.2327+4772C>T 276310576 10802500 GMI_AK_SNP_630743 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602347_247602348insATCCATCT;NC_000001.10:g.247602347_247602348insCATCCATC;NG_007509.2:g.27873_27874insATCCATCT;NG_007509.2:g.27873_27874insCATCCATC;NM_001079821.2:c.2669+2905_2669+2906insATCCATCT;NM_001079821.2:c.2669+2905_2669+2906insCATCCATC;NM_001127461.2:c.2498+4772_2498+4773insATCCATCT;NM_001127461.2:c.2498+4772_2498+4773insCATCCATC;NM_001127462.2:c.2498+2905_2498+2906insATCCATCT;NM_001127462.2:c.2498+2905_2498+2906insCATCCATC;NM_001243133.1:c.2663+2905_2663+2906insATCCATCT;NM_001243133.1:c.2663+2905_2663+2906insCATCCATC;NM_004895.4:c.2669+2905_2669+2906insATCCATCT;NM_004895.4:c.2669+2905_2669+2906insCATCCATC;NM_183395.2:c.2327+4772_2327+4773insATCCATCT;NM_183395.2:c.2327+4772_2327+4773insCATCCATC 326158610 72082521 JPTCHB_chr1_245668970_indel 2011.03.11 2011.04.02 2009.02.13 2012.05.16 137 1000GENOMES 114548 NC_000001.10:g.247602347_247602348insATCCATCT;NC_000001.10:g.247602347_247602348insCATCCATC;NG_007509.2:g.27873_27874insATCCATCT;NG_007509.2:g.27873_27874insCATCCATC;NM_001079821.2:c.2669+2905_2669+2906insATCCATCT;NM_001079821.2:c.2669+2905_2669+2906insCATCCATC;NM_001127461.2:c.2498+4772_2498+4773insATCCATCT;NM_001127461.2:c.2498+4772_2498+4773insCATCCATC;NM_001127462.2:c.2498+2905_2498+2906insATCCATCT;NM_001127462.2:c.2498+2905_2498+2906insCATCCATC;NM_001243133.1:c.2663+2905_2663+2906insATCCATCT;NM_001243133.1:c.2663+2905_2663+2906insCATCCATC;NM_004895.4:c.2669+2905_2669+2906insATCCATCT;NM_004895.4:c.2669+2905_2669+2906insCATCCATC;NM_183395.2:c.2327+4772_2327+4773insATCCATCT;NM_183395.2:c.2327+4772_2327+4773insCATCCATC 326164550 72082521 CEU_chr1_245668970_indel 2011.03.11 2011.04.01 2009.02.13 2012.05.16 137 1000GENOMES 114548 NC_000001.10:g.247602347_247602348insATCCATCT;NC_000001.10:g.247602347_247602348insCATCCATC;NG_007509.2:g.27873_27874insATCCATCT;NG_007509.2:g.27873_27874insCATCCATC;NM_001079821.2:c.2669+2905_2669+2906insATCCATCT;NM_001079821.2:c.2669+2905_2669+2906insCATCCATC;NM_001127461.2:c.2498+4772_2498+4773insATCCATCT;NM_001127461.2:c.2498+4772_2498+4773insCATCCATC;NM_001127462.2:c.2498+2905_2498+2906insATCCATCT;NM_001127462.2:c.2498+2905_2498+2906insCATCCATC;NM_001243133.1:c.2663+2905_2663+2906insATCCATCT;NM_001243133.1:c.2663+2905_2663+2906insCATCCATC;NM_004895.4:c.2669+2905_2669+2906insATCCATCT;NM_004895.4:c.2669+2905_2669+2906insCATCCATC;NM_183395.2:c.2327+4772_2327+4773insATCCATCT;NM_183395.2:c.2327+4772_2327+4773insCATCCATC 326215338 72082521 YRI_chr1_245668970_indel 2011.03.11 2011.04.02 2009.02.13 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247602348_247602349insATCCATCT;NG_007509.2:g.27874_27875insATCCATCT;NM_001079821.2:c.2669+2906_2669+2907insATCCATCT;NM_001127461.2:c.2498+4773_2498+4774insATCCATCT;NM_001127462.2:c.2498+2906_2498+2907insATCCATCT;NM_001243133.1:c.2663+2906_2663+2907insATCCATCT;NM_004895.4:c.2669+2906_2669+2907insATCCATCT;NM_183395.2:c.2327+4773_2327+4774insATCCATCT 100513142 67706727 INDEL_GP36_2008a_1629006_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247602348_247602349insATCCATCT;NG_007509.2:g.27874_27875insATCCATCT;NM_001079821.2:c.2669+2906_2669+2907insATCCATCT;NM_001127461.2:c.2498+4773_2498+4774insATCCATCT;NM_001127462.2:c.2498+2906_2498+2907insATCCATCT;NM_001243133.1:c.2663+2906_2663+2907insATCCATCT;NM_004895.4:c.2669+2906_2669+2907insATCCATCT;NM_183395.2:c.2327+4773_2327+4774insATCCATCT 100513145 67706727 INDEL_GP36_2008a_1629006_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247602348_247602349insATCCATCT;NG_007509.2:g.27874_27875insATCCATCT;NM_001079821.2:c.2669+2906_2669+2907insATCCATCT;NM_001127461.2:c.2498+4773_2498+4774insATCCATCT;NM_001127462.2:c.2498+2906_2498+2907insATCCATCT;NM_001243133.1:c.2663+2906_2663+2907insATCCATCT;NM_004895.4:c.2669+2906_2669+2907insATCCATCT;NM_183395.2:c.2327+4773_2327+4774insATCCATCT 100513146 67706727 INDEL_GP36_2008a_1629006_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247602354_247602355insTATCCATC;NG_007509.2:g.27880_27881insTATCCATC;NM_001079821.2:c.2669+2912_2669+2913insTATCCATC;NM_001127461.2:c.2498+4779_2498+4780insTATCCATC;NM_001127462.2:c.2498+2912_2498+2913insTATCCATC;NM_001243133.1:c.2663+2912_2663+2913insTATCCATC;NM_004895.4:c.2669+2912_2669+2913insTATCCATC;NM_183395.2:c.2327+4779_2327+4780insTATCCATC 95261591 74163773 1104685304935 2008.03.21 2008.12.02 2009.02.15 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247602355C>T;NG_007509.2:g.27881C>T;NM_001079821.2:c.2669+2913C>T;NM_001127461.2:c.2498+4780C>T;NM_001127462.2:c.2498+2913C>T;NM_001243133.1:c.2663+2913C>T;NM_004895.4:c.2669+2913C>T;NM_183395.2:c.2327+4780C>T 18268596 12130169 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12265719 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 SSAHASNP 114548 NC_000001.10:g.247602363A>T;NG_007509.2:g.27889A>T;NM_001079821.2:c.2669+2921A>T;NM_001127461.2:c.2498+4788A>T;NM_001127462.2:c.2498+2921A>T;NM_001243133.1:c.2663+2921A>T;NM_004895.4:c.2669+2921A>T;NM_183395.2:c.2327+4788A>T 35287321 28534375 TA-079.chr1_243928404 variation has been flagged as failed by submitter 2005.03.11 2005.05.24 2011.07.08 137 BCMHGSC_JDW 114548 NC_000001.10:g.247602363A>T;NG_007509.2:g.27889A>T;NM_001079821.2:c.2669+2921A>T;NM_001127461.2:c.2498+4788A>T;NM_001127462.2:c.2498+2921A>T;NM_001243133.1:c.2663+2921A>T;NM_004895.4:c.2669+2921A>T;NM_183395.2:c.2327+4788A>T 88051306 28534375 JWB-0217810 variation has been flagged as failed by submitter 2008.02.27 2008.02.27 2005.05.24 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247602452G>A;NG_007509.2:g.27978G>A;NM_001079821.2:c.2669+3010G>A;NM_001127461.2:c.2499-4822G>A;NM_001127462.2:c.2498+3010G>A;NM_001243133.1:c.2663+3010G>A;NM_004895.4:c.2669+3010G>A;NM_183395.2:c.2328-4822G>A 454808185 183647270 20101123_snps_975415_chr1_247602452 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247602516G>T;NG_007509.2:g.28042G>T;NM_001079821.2:c.2669+3074G>T;NM_001127461.2:c.2499-4758G>T;NM_001127462.2:c.2498+3074G>T;NM_001243133.1:c.2663+3074G>T;NM_004895.4:c.2669+3074G>T;NM_183395.2:c.2328-4758G>T 219005708 115909551 pilot_1_YRI_815391_chr1_245669139 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602557T>A;NG_007509.2:g.28083T>A;NM_001079821.2:c.2669+3115T>A;NM_001127461.2:c.2499-4717T>A;NM_001127462.2:c.2498+3115T>A;NM_001243133.1:c.2663+3115T>A;NM_004895.4:c.2669+3115T>A;NM_183395.2:c.2328-4717T>A 238590469 78781884 pilot_1_CHB+JPT_475546_chr1_245669180 3.70e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247602791T>C;NG_007509.2:g.28317T>C;NM_001079821.2:c.2669+3349T>C;NM_001127461.2:c.2499-4483T>C;NM_001127462.2:c.2498+3349T>C;NM_001243133.1:c.2663+3349T>C;NM_004895.4:c.2669+3349T>C;NM_183395.2:c.2328-4483T>C 329363867 139093204 20100804_snps_1007403_chr1_247602791 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247602826C>G;NG_007509.2:g.28352C>G;NM_001079821.2:c.2669+3384C>G;NM_001127461.2:c.2499-4448C>G;NM_001127462.2:c.2498+3384C>G;NM_001243133.1:c.2663+3384C>G;NM_004895.4:c.2669+3384C>G;NM_183395.2:c.2328-4448C>G 219005709 116266609 pilot_1_YRI_815392_chr1_245669449 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247602870C>T;NG_007509.2:g.28396C>T;NM_001079821.2:c.2669+3428C>T;NM_001127461.2:c.2499-4404C>T;NM_001127462.2:c.2498+3428C>T;NM_001243133.1:c.2663+3428C>T;NM_004895.4:c.2669+3428C>T;NM_183395.2:c.2328-4404C>T 219005710 115514265 pilot_1_YRI_815393_chr1_245669493 2.24e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247602875T>C;NG_007509.2:g.28401T>C;NM_001079821.2:c.2669+3433T>C;NM_001127461.2:c.2499-4399T>C;NM_001127462.2:c.2498+3433T>C;NM_001243133.1:c.2663+3433T>C;NM_004895.4:c.2669+3433T>C;NM_183395.2:c.2328-4399T>C 238590470 117898226 pilot_1_CHB+JPT_475547_chr1_245669498 1.28e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247602875T>C;NG_007509.2:g.28401T>C;NM_001079821.2:c.2669+3433T>C;NM_001127461.2:c.2499-4399T>C;NM_001127462.2:c.2498+3433T>C;NM_001243133.1:c.2663+3433T>C;NM_004895.4:c.2669+3433T>C;NM_183395.2:c.2328-4399T>C 276310577 117898226 GMI_AK_SNP_630744 1.28e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247602966T>C;NG_007509.2:g.28492T>C;NM_001079821.2:c.2669+3524T>C;NM_001127461.2:c.2499-4308T>C;NM_001127462.2:c.2498+3524T>C;NM_001243133.1:c.2663+3524T>C;NM_004895.4:c.2669+3524T>C;NM_183395.2:c.2328-4308T>C 199904009 113926832 BUSHMAN-chr1-245669588 3.20e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602966T>C;NG_007509.2:g.28492T>C;NM_001079821.2:c.2669+3524T>C;NM_001127461.2:c.2499-4308T>C;NM_001127462.2:c.2498+3524T>C;NM_001243133.1:c.2663+3524T>C;NM_004895.4:c.2669+3524T>C;NM_183395.2:c.2328-4308T>C 329363868 113926832 20100804_snps_1007404_chr1_247602966 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247602967T>C;NG_007509.2:g.28493T>C;NM_001079821.2:c.2669+3525T>C;NM_001127461.2:c.2499-4307T>C;NM_001127462.2:c.2498+3525T>C;NM_001243133.1:c.2663+3525T>C;NM_004895.4:c.2669+3525T>C;NM_183395.2:c.2328-4307T>C 199904013 111820886 BUSHMAN-chr1-245669589 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 WI_SSAHASNP 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 6810013 4925546 NT_031730.6_391188 3.75e-01 2003.02.14 2006.10.25 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 24278354 4925546 afd4217709 3.75e-01 2004.08.21 2004.09.13 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 41088776 4925546 hCV26646037 3.75e-01 2005.07.17 2006.11.03 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 68800571 4925546 PGP04217709 3.75e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 74853307 4925546 SNP_M-613185 3.75e-01 2007.08.09 2007.08.09 2003.02.20 2012.11.28 137 AFFY 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 76705516 4925546 AFFY_6_1M_SNP_A-8566994 3.75e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 104909476 4925546 KHS1301799 3.75e-01 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 106647986 4925546 BGI_rs4925546 3.75e-01 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 109136597 4925546 CEU.trio.12.15.2008_293449_chr1_245669591 3.75e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 112114631 4925546 NA19240_2008_12_16_266143_chr1_245669591 3.75e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 119287787 4925546 NA18507_000265621_NCBI36.1_chr1_245669591 3.75e-01 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 131774288 4925546 ENSSNP197716 3.75e-01 2009.05.11 2009.10.14 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 156564063 4925546 GMI_SNP_117780711 3.75e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 160728711 4925546 HumanOmni1-Quad_v1-0_B_rs4925546-128_B_R_1542890026 3.75e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 165636588 4925546 NA19240_36_chr1_245669591 3.75e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 165962007 4925546 NA07022_36_chr1_245669591 3.75e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 167597254 4925546 NA20431_36_chr1_245669591 3.75e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 199904017 4925546 BUSHMAN-chr1-245669590 3.75e-01 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 205132685 4925546 BCM_CMT_1011-46215 3.75e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 219005711 4925546 pilot_1_YRI_815394_chr1_245669591 3.75e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 230995509 4925546 pilot_1_CEU_600138_chr1_245669591 3.75e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 238590471 4925546 pilot_1_CHB+JPT_475548_chr1_245669591 3.75e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 253949087 4925546 SNP242696_1_245669591 3.75e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 276310578 4925546 GMI_AK_SNP_630745 3.75e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 290789461 4925546 SNP_295819_chr1_245669591 3.75e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 481103059 4925546 HumanOmni2.5-4v1_B_rs4925546-128_B_R_1767305232 3.75e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 481125055 4925546 HumanOmniExpress-12v1_C_rs4925546-131_B_R_1857958136 3.75e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 482115780 4925546 HumanOmni1-Quad_v1-0_C_rs4925546-131_B_R_1865434163 3.75e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247602968A>G;NG_007509.2:g.28494A>G;NM_001079821.2:c.2669+3526A>G;NM_001127461.2:c.2499-4306A>G;NM_001127462.2:c.2498+3526A>G;NM_001243133.1:c.2663+3526A>G;NM_004895.4:c.2669+3526A>G;NM_183395.2:c.2328-4306A>G 485346606 4925546 HumanOmni2.5-4v1_D_rs4925546-131_B_R_1857958136 3.75e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247602999C>T;NG_007509.2:g.28525C>T;NM_001079821.2:c.2669+3557C>T;NM_001127461.2:c.2499-4275C>T;NM_001127462.2:c.2498+3557C>T;NM_001243133.1:c.2663+3557C>T;NM_004895.4:c.2669+3557C>T;NM_183395.2:c.2328-4275C>T 329363869 144883463 20100804_snps_1007405_chr1_247602999 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603082G>A;NG_007509.2:g.28608G>A;NM_001079821.2:c.2669+3640G>A;NM_001127461.2:c.2499-4192G>A;NM_001127462.2:c.2498+3640G>A;NM_001243133.1:c.2663+3640G>A;NM_004895.4:c.2669+3640G>A;NM_183395.2:c.2328-4192G>A 329363870 149023532 20100804_snps_1007406_chr1_247603082 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603094C>T;NG_007509.2:g.28620C>T;NM_001079821.2:c.2669+3652C>T;NM_001127461.2:c.2499-4180C>T;NM_001127462.2:c.2498+3652C>T;NM_001243133.1:c.2663+3652C>T;NM_004895.4:c.2669+3652C>T;NM_183395.2:c.2328-4180C>T 454808186 190248477 20101123_snps_975416_chr1_247603094 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603095G>A;NG_007509.2:g.28621G>A;NM_001079821.2:c.2669+3653G>A;NM_001127461.2:c.2499-4179G>A;NM_001127462.2:c.2498+3653G>A;NM_001243133.1:c.2663+3653G>A;NM_004895.4:c.2669+3653G>A;NM_183395.2:c.2328-4179G>A 329363871 143505181 20100804_snps_1007407_chr1_247603095 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603167G>A;NG_007509.2:g.28693G>A;NM_001079821.2:c.2669+3725G>A;NM_001127461.2:c.2499-4107G>A;NM_001127462.2:c.2498+3725G>A;NM_001243133.1:c.2663+3725G>A;NM_004895.4:c.2669+3725G>A;NM_183395.2:c.2328-4107G>A 454808187 182470805 20101123_snps_975417_chr1_247603167 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603334A>G;NG_007509.2:g.28860A>G;NM_001079821.2:c.2669+3892A>G;NM_001127461.2:c.2499-3940A>G;NM_001127462.2:c.2498+3892A>G;NM_001243133.1:c.2663+3892A>G;NM_004895.4:c.2669+3892A>G;NM_183395.2:c.2328-3940A>G 329363872 146741512 20100804_snps_1007408_chr1_247603334 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247603363_247603380del18;NG_007509.2:g.28889_28906del18;NM_001079821.2:c.2670-3911_2670-3894del18;NM_001127461.2:c.2499-3911_2499-3894del18;NM_001127462.2:c.2499-3911_2499-3894del18;NM_001243133.1:c.2664-3911_2664-3894del18;NM_004895.4:c.2670-3911_2670-3894del18;NM_183395.2:c.2328-3911_2328-3894del18 50384045 36234062 INDEL_GP35_WGS_677469 2006.01.24 2006.01.24 2006.03.16 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247603363_247603380del18;NG_007509.2:g.28889_28906del18;NM_001079821.2:c.2670-3911_2670-3894del18;NM_001127461.2:c.2499-3911_2499-3894del18;NM_001127462.2:c.2499-3911_2499-3894del18;NM_001243133.1:c.2664-3911_2664-3894del18;NM_004895.4:c.2670-3911_2670-3894del18;NM_183395.2:c.2328-3911_2328-3894del18 99987865 36234062 INDEL_GP36_2007a_274691_0 2008.05.06 2008.05.06 2006.03.16 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247603381_247603398del18;NG_007509.2:g.28907_28924del18;NM_001079821.2:c.2670-3893_2670-3876del18;NM_001127461.2:c.2499-3893_2499-3876del18;NM_001127462.2:c.2499-3893_2499-3876del18;NM_001243133.1:c.2664-3893_2664-3876del18;NM_004895.4:c.2670-3893_2670-3876del18;NM_183395.2:c.2328-3893_2328-3876del18 326158614 144084486 JPTCHB_chr1_245670003_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603381_247603398del18;NG_007509.2:g.28907_28924del18;NM_001079821.2:c.2670-3893_2670-3876del18;NM_001127461.2:c.2499-3893_2499-3876del18;NM_001127462.2:c.2499-3893_2499-3876del18;NM_001243133.1:c.2664-3893_2664-3876del18;NM_004895.4:c.2670-3893_2670-3876del18;NM_183395.2:c.2328-3893_2328-3876del18 326164553 144084486 CEU_chr1_245670003_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247603387T>C;NG_007509.2:g.28913T>C;NM_001079821.2:c.2670-3887T>C;NM_001127461.2:c.2499-3887T>C;NM_001127462.2:c.2499-3887T>C;NM_001243133.1:c.2664-3887T>C;NM_004895.4:c.2670-3887T>C;NM_183395.2:c.2328-3887T>C 6810146 4925655 NT_031730.6_391607 2003.02.14 2003.10.10 2003.02.20 2011.07.08 137 WI_SSAHASNP 114548 NC_000001.10:g.247603395A>G;NG_007509.2:g.28921A>G;NM_001079821.2:c.2670-3879A>G;NM_001127461.2:c.2499-3879A>G;NM_001127462.2:c.2499-3879A>G;NM_001243133.1:c.2664-3879A>G;NM_004895.4:c.2670-3879A>G;NM_183395.2:c.2328-3879A>G 6810147 4925656 NT_031730.6_391615 2003.02.14 2003.10.10 2003.02.20 2011.07.08 137 WI_SSAHASNP 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 6810148 4925657 NT_031730.6_391616 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 106647987 4925657 BGI_rs4925657 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 165636597 4925657 NA19240_36_chr1_245670019 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 199904021 4925657 BUSHMAN-chr1-245670018 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 205373122 4925657 BCM_CMT_1011-166063 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 210480735 4925657 CEU.trio.3.2010_12873_chr1_245670019 2010.03.29 2010.03.29 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 276310579 4925657 GMI_AK_SNP_630746 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 482298445 4925657 HumanOmni2.5-4v1_B_SNP1-245670019-0_B_F_1621651680 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603396C>T;NG_007509.2:g.28922C>T;NM_001079821.2:c.2670-3878C>T;NM_001127461.2:c.2499-3878C>T;NM_001127462.2:c.2499-3878C>T;NM_001243133.1:c.2664-3878C>T;NM_004895.4:c.2670-3878C>T;NM_183395.2:c.2328-3878C>T 483644436 4925657 HumanOmni2.5-4v1_D_kgp6002902-0_B_F_1817395979 2012.02.02 2012.02.02 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247603398T>G;NG_007509.2:g.28924T>G;NM_001079821.2:c.2670-3876T>G;NM_001127461.2:c.2499-3876T>G;NM_001127462.2:c.2499-3876T>G;NM_001243133.1:c.2664-3876T>G;NM_004895.4:c.2670-3876T>G;NM_183395.2:c.2328-3876T>G 276310580 201661404 GMI_AK_SNP_630747 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 114548 NC_000001.10:g.247603411_247603428del18;NG_007509.2:g.28937_28954del18;NM_001079821.2:c.2670-3863_2670-3846del18;NM_001127461.2:c.2499-3863_2499-3846del18;NM_001127462.2:c.2499-3863_2499-3846del18;NM_001243133.1:c.2664-3863_2664-3846del18;NM_004895.4:c.2670-3863_2670-3846del18;NM_183395.2:c.2328-3863_2328-3846del18 100402929 66462614 INDEL_GP36_2008a_2118161_0 2008.05.16 2008.05.16 2009.02.03 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247603411_247603428del18;NG_007509.2:g.28937_28954del18;NM_001079821.2:c.2670-3863_2670-3846del18;NM_001127461.2:c.2499-3863_2499-3846del18;NM_001127462.2:c.2499-3863_2499-3846del18;NM_001243133.1:c.2664-3863_2664-3846del18;NM_004895.4:c.2670-3863_2670-3846del18;NM_183395.2:c.2328-3863_2328-3846del18 100402932 66462614 INDEL_GP36_2008a_2118161_1 2008.05.16 2008.05.16 2009.02.03 2011.07.08 137 WI_SSAHASNP 114548 NC_000001.10:g.247603416T>G;NG_007509.2:g.28942T>G;NM_001079821.2:c.2670-3858T>G;NM_001127461.2:c.2499-3858T>G;NM_001127462.2:c.2499-3858T>G;NM_001243133.1:c.2664-3858T>G;NM_004895.4:c.2670-3858T>G;NM_183395.2:c.2328-3858T>G 6810149 4925658 NT_031730.6_391636 7.30e-03 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603416T>G;NG_007509.2:g.28942T>G;NM_001079821.2:c.2670-3858T>G;NM_001127461.2:c.2499-3858T>G;NM_001127462.2:c.2499-3858T>G;NM_001243133.1:c.2664-3858T>G;NM_004895.4:c.2670-3858T>G;NM_183395.2:c.2328-3858T>G 454808188 4925658 20101123_snps_975418_chr1_247603416 7.30e-03 2011.07.20 2011.07.20 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603440G>A;NG_007509.2:g.28966G>A;NM_001079821.2:c.2670-3834G>A;NM_001127461.2:c.2499-3834G>A;NM_001127462.2:c.2499-3834G>A;NM_001243133.1:c.2664-3834G>A;NM_004895.4:c.2670-3834G>A;NM_183395.2:c.2328-3834G>A 454808189 192053257 20101123_snps_975419_chr1_247603440 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603456T>C;NG_007509.2:g.28982T>C;NM_001079821.2:c.2670-3818T>C;NM_001127461.2:c.2499-3818T>C;NM_001127462.2:c.2499-3818T>C;NM_001243133.1:c.2664-3818T>C;NM_004895.4:c.2670-3818T>C;NM_183395.2:c.2328-3818T>C 454808190 181275489 20101123_snps_975420_chr1_247603456 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 6810150 4925659 NT_031730.6_391683 3.77e-01 2003.02.14 2006.10.25 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 23870270 4925659 afd4316945 3.77e-01 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 66844189 4925659 HumanHap300v1.1_rs4925659 3.77e-01 2006.11.09 2006.11.09 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 67399702 4925659 HumanHap550v1.1_rs4925659 3.77e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 67769578 4925659 HumanHap650Yv1.0_rs4925659 3.77e-01 2006.11.14 2006.11.14 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 68800572 4925659 PGP04316945 3.77e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 70836563 4925659 HumanHap550v3.0__rs4925659 3.77e-01 2007.04.20 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 71419876 4925659 HumanHap650Yv3.0_rs4925659 3.77e-01 2007.04.23 2007.04.23 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 75920292 4925659 ILMN_Human_1M_rs4925659 3.77e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 79202820 4925659 HumanHap300v2.0_rs4925659 3.77e-01 2007.11.18 2007.11.18 2003.02.20 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 84400507 4925659 KHS702237 3.77e-01 2007.12.07 2007.12.07 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 106647988 4925659 BGI_rs4925659 3.77e-01 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 109136600 4925659 CEU.trio.12.15.2008_293450_chr1_245670086 3.77e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 122432873 4925659 HumanCNV370v1_C_rs4925659 3.77e-01 2009.04.15 2009.04.15 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 154329503 4925659 Human610_Quadv1_B_rs4925659-128_B_R_1501792563 3.77e-01 2009.06.20 2009.06.20 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 156564069 4925659 GMI_SNP_71525847 3.77e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 159506025 4925659 Human660W-Quad_v1_A_rs4925659-128_B_R_1501792563 3.77e-01 2009.07.07 2009.07.07 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 160728726 4925659 HumanOmni1-Quad_v1-0_B_rs4925659-128_B_R_1501792563 3.77e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 167597256 4925659 NA20431_36_chr1_245670086 3.77e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 171980215 4925659 HumanCNV370-Quadv3_C_rs4925659-128_B_R_1501792563 3.77e-01 2009.10.01 2009.10.04 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 173877320 4925659 Human1M-Duov3_B_rs4925659-128_B_R_1501792563 3.77e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 205088576 4925659 BCM_CMT_1011-24896 3.77e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 219005714 4925659 pilot_1_YRI_815397_chr1_245670086 3.77e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 230995513 4925659 pilot_1_CEU_600142_chr1_245670086 3.77e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 238590473 4925659 pilot_1_CHB+JPT_475550_chr1_245670086 3.77e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 244302029 4925659 CVDSNP55v1_A_rs4925659 3.77e-01 2010.06.10 2010.06.10 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 253949089 4925659 SNP242697_1_245670086 3.77e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 276310581 4925659 GMI_AK_SNP_630748 3.77e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 481103114 4925659 HumanOmni2.5-4v1_B_rs4925659-128_B_R_1775050793 3.77e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 481125110 4925659 HumanOmniExpress-12v1_C_rs4925659-131_B_R_1857729496 3.77e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 482115824 4925659 HumanOmni1-Quad_v1-0_C_rs4925659-131_B_R_1865361913 3.77e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603463G>A;NG_007509.2:g.28989G>A;NM_001079821.2:c.2670-3811G>A;NM_001127461.2:c.2499-3811G>A;NM_001127462.2:c.2499-3811G>A;NM_001243133.1:c.2664-3811G>A;NM_004895.4:c.2670-3811G>A;NM_183395.2:c.2328-3811G>A 485346634 4925659 HumanOmni2.5-4v1_D_rs4925659-131_B_R_1857729496 3.77e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603474C>T;NG_007509.2:g.29000C>T;NM_001079821.2:c.2670-3800C>T;NM_001127461.2:c.2499-3800C>T;NM_001127462.2:c.2499-3800C>T;NM_001243133.1:c.2664-3800C>T;NM_004895.4:c.2670-3800C>T;NM_183395.2:c.2328-3800C>T 454808191 185520753 20101123_snps_975421_chr1_247603474 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603485G>A;NG_007509.2:g.29011G>A;NM_001079821.2:c.2670-3789G>A;NM_001127461.2:c.2499-3789G>A;NM_001127462.2:c.2499-3789G>A;NM_001243133.1:c.2664-3789G>A;NM_004895.4:c.2670-3789G>A;NM_183395.2:c.2328-3789G>A 454808192 190284300 20101123_snps_975422_chr1_247603485 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603531C>T;NG_007509.2:g.29057C>T;NM_001079821.2:c.2670-3743C>T;NM_001127461.2:c.2499-3743C>T;NM_001127462.2:c.2499-3743C>T;NM_001243133.1:c.2664-3743C>T;NM_004895.4:c.2670-3743C>T;NM_183395.2:c.2328-3743C>T 454808193 182152747 20101123_snps_975423_chr1_247603531 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603537G>A;NG_007509.2:g.29063G>A;NM_001079821.2:c.2670-3737G>A;NM_001127461.2:c.2499-3737G>A;NM_001127462.2:c.2499-3737G>A;NM_001243133.1:c.2664-3737G>A;NM_004895.4:c.2670-3737G>A;NM_183395.2:c.2328-3737G>A 454808194 186179035 20101123_snps_975424_chr1_247603537 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603563T>A;NG_007509.2:g.29089T>A;NM_001079821.2:c.2670-3711T>A;NM_001127461.2:c.2499-3711T>A;NM_001127462.2:c.2499-3711T>A;NM_001243133.1:c.2664-3711T>A;NM_004895.4:c.2670-3711T>A;NM_183395.2:c.2328-3711T>A 219005715 114800447 pilot_1_YRI_815398_chr1_245670186 1.42e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603574C>A;NG_007509.2:g.29100C>A;NM_001079821.2:c.2670-3700C>A;NM_001127461.2:c.2499-3700C>A;NM_001127462.2:c.2499-3700C>A;NM_001243133.1:c.2664-3700C>A;NM_004895.4:c.2670-3700C>A;NM_183395.2:c.2328-3700C>A 454808195 191901354 20101123_snps_975425_chr1_247603574 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247603584C>T;NG_007509.2:g.29110C>T;NM_001079821.2:c.2670-3690C>T;NM_001127461.2:c.2499-3690C>T;NM_001127462.2:c.2499-3690C>T;NM_001243133.1:c.2664-3690C>T;NM_004895.4:c.2670-3690C>T;NM_183395.2:c.2328-3690C>T 219005716 79348670 pilot_1_YRI_815399_chr1_245670207 3.39e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247603584C>T;NG_007509.2:g.29110C>T;NM_001079821.2:c.2670-3690C>T;NM_001127461.2:c.2499-3690C>T;NM_001127462.2:c.2499-3690C>T;NM_001243133.1:c.2664-3690C>T;NM_004895.4:c.2670-3690C>T;NM_183395.2:c.2328-3690C>T 230995514 79348670 pilot_1_CEU_600143_chr1_245670207 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247603585G>A;NG_007509.2:g.29111G>A;NM_001079821.2:c.2670-3689G>A;NM_001127461.2:c.2499-3689G>A;NM_001127462.2:c.2499-3689G>A;NM_001243133.1:c.2664-3689G>A;NM_004895.4:c.2670-3689G>A;NM_183395.2:c.2328-3689G>A 199904025 112517759 BUSHMAN-chr1-245670207 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247603760C>T;NG_007509.2:g.29286C>T;NM_001079821.2:c.2670-3514C>T;NM_001127461.2:c.2499-3514C>T;NM_001127462.2:c.2499-3514C>T;NM_001243133.1:c.2664-3514C>T;NM_004895.4:c.2670-3514C>T;NM_183395.2:c.2328-3514C>T 219005717 79256088 pilot_1_YRI_815400_chr1_245670383 1.28e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ABI 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 41261436 36021952 hCV26052035 1.12e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 119287789 36021952 NA18507_000265622_NCBI36.1_chr1_245670528 1.12e-01 2009.01.22 2009.01.22 2006.03.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 138997908 36021952 ENSSNP197717 1.12e-01 2009.05.18 2009.10.16 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 165962011 36021952 NA07022_36_chr1_245670528 1.12e-01 2009.09.30 2009.09.30 2006.03.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 199904027 36021952 BUSHMAN-chr1-245670527 1.12e-01 2010.03.07 2010.03.07 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 210793809 36021952 YRI.trio.3.2010_117442_chr1_245670528 1.12e-01 2010.03.29 2010.03.29 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 219005718 36021952 pilot_1_YRI_815401_chr1_245670528 1.12e-01 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 230995515 36021952 pilot_1_CEU_600144_chr1_245670528 1.12e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 238590474 36021952 pilot_1_CHB+JPT_475551_chr1_245670528 1.12e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 276310582 36021952 GMI_AK_SNP_630749 1.12e-01 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 PJP 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 290789462 36021952 SNP_295820_chr1_245670528 1.12e-01 2011.01.21 2011.01.21 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 482298449 36021952 HumanOmni2.5-4v1_B_SNP1-245670528-0_T_F_1612701911 1.12e-01 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247603905G>A;NG_007509.2:g.29431G>A;NM_001079821.2:c.2670-3369G>A;NM_001127461.2:c.2499-3369G>A;NM_001127462.2:c.2499-3369G>A;NM_001243133.1:c.2664-3369G>A;NM_004895.4:c.2670-3369G>A;NM_183395.2:c.2328-3369G>A 483608474 36021952 HumanOmni2.5-4v1_D_kgp5807462-0_T_F_1820566509 1.12e-01 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 17353042 10925026 CSHL-HuCC-200402.chr1.NT_004836.15_12267622 3.24e-01 2004.02.19 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 18272520 10925026 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12267622 3.24e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 66910397 10925026 HumanHap550v1.1_rs10925026 3.24e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 67041452 10925026 HumanHap650Yv1.0_rs10925026 3.24e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 68094587 10925026 HumanHap250Sv1.0_rs10925026 3.24e-01 2006.12.06 2006.12.07 2004.02.27 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 68800573 10925026 PGP06944282 3.24e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 70507991 10925026 HumanHap550v3.0__rs10925026 3.24e-01 2007.04.20 2008.03.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 71034907 10925026 HumanHap650Yv3.0_rs10925026 3.24e-01 2007.04.23 2007.04.23 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 75440989 10925026 ILMN_Human_1M_rs10925026 3.24e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 83541130 10925026 Cor18956_SNV_20070510.chr1_243930299 3.24e-01 2007.12.05 2007.12.05 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 84011910 10925026 Cor19240_SNV_20070510.chr1_243930299 3.24e-01 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 85032511 10925026 KHS880264 3.24e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 98020156 10925026 1103675395157 3.24e-01 2008.03.30 2008.03.30 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 106647989 10925026 BGI_rs10925026 3.24e-01 2008.09.17 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 109136605 10925026 CEU.trio.12.15.2008_293451_chr1_245670881 3.24e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 119287791 10925026 NA18507_000265623_NCBI36.1_chr1_245670881 3.24e-01 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 138997905 10925026 ENSSNP197718 3.24e-01 2009.05.18 2009.10.16 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 152876673 10925026 Human610_Quadv1_B_rs10925026-128_B_R_1502080800 3.24e-01 2009.06.18 2009.06.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 156564075 10925026 GMI_SNP_100707274 3.24e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 159153238 10925026 Human660W-Quad_v1_A_rs10925026-128_B_R_1502080800 3.24e-01 2009.07.06 2009.07.06 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 165636608 10925026 NA19240_36_chr1_245670881 3.24e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 165962014 10925026 NA07022_36_chr1_245670881 3.24e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 167597258 10925026 NA20431_36_chr1_245670881 3.24e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 170759623 10925026 Human1M-Duov3_B_rs10925026-128_B_R_1502080800 3.24e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 199904033 10925026 BUSHMAN-chr1-245670880 3.24e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 205188422 10925026 BCM_CMT_1011-74228 3.24e-01 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 210793812 10925026 YRI.trio.3.2010_117443_chr1_245670881 3.24e-01 2010.03.29 2010.03.29 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 219005719 10925026 pilot_1_YRI_815402_chr1_245670881 3.24e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 230995516 10925026 pilot_1_CEU_600145_chr1_245670881 3.24e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 238590477 10925026 pilot_1_CHB+JPT_475554_chr1_245670881 3.24e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 253949093 10925026 SNP242698_1_245670881 3.24e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 276310583 10925026 GMI_AK_SNP_630750 3.24e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 290789463 10925026 SNP_295821_chr1_245670881 3.24e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 482298452 10925026 HumanOmni2.5-4v1_B_SNP1-245670881-0_B_R_1633248901 3.24e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604258C>A;NG_007509.2:g.29784C>A;NM_001079821.2:c.2670-3016C>A;NM_001127461.2:c.2499-3016C>A;NM_001127462.2:c.2499-3016C>A;NM_001243133.1:c.2664-3016C>A;NM_004895.4:c.2670-3016C>A;NM_183395.2:c.2328-3016C>A 484116014 10925026 HumanOmni2.5-4v1_D_kgp8581237-0_B_R_1820955408 3.24e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604338A>G;NG_007509.2:g.29864A>G;NM_001079821.2:c.2670-2936A>G;NM_001127461.2:c.2499-2936A>G;NM_001127462.2:c.2499-2936A>G;NM_001243133.1:c.2664-2936A>G;NM_004895.4:c.2670-2936A>G;NM_183395.2:c.2328-2936A>G 219005720 79626776 pilot_1_YRI_815403_chr1_245670961 2.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604372delT;NC_000001.10:g.247604372delTinsTTCC;NG_007509.2:g.29898delT;NG_007509.2:g.29898delTinsTTCC;NM_001079821.2:c.2670-2902delT;NM_001079821.2:c.2670-2902delTinsTTCC;NM_001127461.2:c.2499-2902delT;NM_001127461.2:c.2499-2902delTinsTTCC;NM_001127462.2:c.2499-2902delT;NM_001127462.2:c.2499-2902delTinsTTCC;NM_001243133.1:c.2664-2902delT;NM_001243133.1:c.2664-2902delTinsTTCC;NM_004895.4:c.2670-2902delT;NM_004895.4:c.2670-2902delTinsTTCC;NM_183395.2:c.2328-2902delT;NM_183395.2:c.2328-2902delTinsTTCC 100013511 67179130 INDEL_GP36_2007a_950459_0 2008.05.16 2008.05.16 2009.02.05 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247604372delT;NC_000001.10:g.247604372delTinsTTCC;NG_007509.2:g.29898delT;NG_007509.2:g.29898delTinsTTCC;NM_001079821.2:c.2670-2902delT;NM_001079821.2:c.2670-2902delTinsTTCC;NM_001127461.2:c.2499-2902delT;NM_001127461.2:c.2499-2902delTinsTTCC;NM_001127462.2:c.2499-2902delT;NM_001127462.2:c.2499-2902delTinsTTCC;NM_001243133.1:c.2664-2902delT;NM_001243133.1:c.2664-2902delTinsTTCC;NM_004895.4:c.2670-2902delT;NM_004895.4:c.2670-2902delTinsTTCC;NM_183395.2:c.2328-2902delT;NM_183395.2:c.2328-2902delTinsTTCC 102394168 67179130 INDEL_GP36_2008a_950459_1 2008.05.18 2008.05.18 2009.02.05 2011.09.09 137 GMI 114548 NC_000001.10:g.247604372delT;NC_000001.10:g.247604372delTinsTTCC;NG_007509.2:g.29898delT;NG_007509.2:g.29898delTinsTTCC;NM_001079821.2:c.2670-2902delT;NM_001079821.2:c.2670-2902delTinsTTCC;NM_001127461.2:c.2499-2902delT;NM_001127461.2:c.2499-2902delTinsTTCC;NM_001127462.2:c.2499-2902delT;NM_001127462.2:c.2499-2902delTinsTTCC;NM_001243133.1:c.2664-2902delT;NM_001243133.1:c.2664-2902delTinsTTCC;NM_004895.4:c.2670-2902delT;NM_004895.4:c.2670-2902delTinsTTCC;NM_183395.2:c.2328-2902delT;NM_183395.2:c.2328-2902delTinsTTCC 287692042 67179130 GMI_NA10851_INDEL_24670 2010.12.18 2010.12.20 2009.02.05 2011.09.09 137 GMI 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 288119540 142412683 GMI_AK_INDEL_90636 2010.12.21 2011.12.23 2011.05.09 2012.11.28 137 PJP 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 294636726 142412683 DIP_74430_chr1_245671003 2011.01.21 2011.01.21 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 326158617 142412683 JPTCHB_chr1_245670994_indel 2011.03.11 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 326164556 142412683 CEU_chr1_245670994_indel 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 326215342 142412683 YRI_chr1_245670994_indel 2011.03.11 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604372_247604375delTTCC;NG_007509.2:g.29898_29901delTTCC;NM_001079821.2:c.2670-2902_2670-2899delTTCC;NM_001127461.2:c.2499-2902_2499-2899delTTCC;NM_001127462.2:c.2499-2902_2499-2899delTTCC;NM_001243133.1:c.2664-2902_2664-2899delTTCC;NM_004895.4:c.2670-2902_2670-2899delTTCC;NM_183395.2:c.2328-2902_2328-2899delTTCC 499190892 142412683 20110316_indels_chr1_247604371_247604374 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 ABI 114548 NC_000001.10:g.247604391delC;NC_000001.10:g.247604391delCinsCTTC;NG_007509.2:g.29917delC;NG_007509.2:g.29917delCinsCTTC;NM_001079821.2:c.2670-2883delC;NM_001079821.2:c.2670-2883delCinsCTTC;NM_001127461.2:c.2499-2883delC;NM_001127461.2:c.2499-2883delCinsCTTC;NM_001127462.2:c.2499-2883delC;NM_001127462.2:c.2499-2883delCinsCTTC;NM_001243133.1:c.2664-2883delC;NM_001243133.1:c.2664-2883delCinsCTTC;NM_004895.4:c.2670-2883delC;NM_004895.4:c.2670-2883delCinsCTTC;NM_183395.2:c.2328-2883delC;NM_183395.2:c.2328-2883delCinsCTTC 41216691 34747357 hCV32484957 2005.07.17 2005.07.17 2006.03.14 2012.05.16 137 HGSV 114548 NC_000001.10:g.247604391delC;NC_000001.10:g.247604391delCinsCTTC;NG_007509.2:g.29917delC;NG_007509.2:g.29917delCinsCTTC;NM_001079821.2:c.2670-2883delC;NM_001079821.2:c.2670-2883delCinsCTTC;NM_001127461.2:c.2499-2883delC;NM_001127461.2:c.2499-2883delCinsCTTC;NM_001127462.2:c.2499-2883delC;NM_001127462.2:c.2499-2883delCinsCTTC;NM_001243133.1:c.2664-2883delC;NM_001243133.1:c.2664-2883delCinsCTTC;NM_004895.4:c.2670-2883delC;NM_004895.4:c.2670-2883delCinsCTTC;NM_183395.2:c.2328-2883delC;NM_183395.2:c.2328-2883delCinsCTTC 80182619 34747357 Cor18507_DIV_20070510.chr1_243930431-243930436_1 2007.11.24 2007.11.24 2006.03.14 2012.05.16 137 HGSV 114548 NC_000001.10:g.247604391delC;NC_000001.10:g.247604391delCinsCTTC;NG_007509.2:g.29917delC;NG_007509.2:g.29917delCinsCTTC;NM_001079821.2:c.2670-2883delC;NM_001079821.2:c.2670-2883delCinsCTTC;NM_001127461.2:c.2499-2883delC;NM_001127461.2:c.2499-2883delCinsCTTC;NM_001127462.2:c.2499-2883delC;NM_001127462.2:c.2499-2883delCinsCTTC;NM_001243133.1:c.2664-2883delC;NM_001243133.1:c.2664-2883delCinsCTTC;NM_004895.4:c.2670-2883delC;NM_004895.4:c.2670-2883delCinsCTTC;NM_183395.2:c.2328-2883delC;NM_183395.2:c.2328-2883delCinsCTTC 82974125 34747357 Cor19240_DIV_20070510.chr1_243930431-243930436_1 2007.12.04 2007.12.04 2006.03.14 2012.05.16 137 BL 114548 NC_000001.10:g.247604391C>T;NG_007509.2:g.29917C>T;NM_001079821.2:c.2670-2883C>T;NM_001127461.2:c.2499-2883C>T;NM_001127462.2:c.2499-2883C>T;NM_001243133.1:c.2664-2883C>T;NM_004895.4:c.2670-2883C>T;NM_183395.2:c.2328-2883C>T 253949095 76169235 SNP242699_1_245671014 variation has been flagged as failed by submitter 2010.08.19 2010.08.19 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247604407_247604410delCTTT;NG_007509.2:g.29933_29936delCTTT;NM_001079821.2:c.2670-2867_2670-2864delCTTT;NM_001127461.2:c.2499-2867_2499-2864delCTTT;NM_001127462.2:c.2499-2867_2499-2864delCTTT;NM_001243133.1:c.2664-2867_2664-2864delCTTT;NM_004895.4:c.2670-2867_2670-2864delCTTT;NM_183395.2:c.2328-2867_2328-2864delCTTT 499190898 201776897 20110316_indels_chr1_247604406_247604409 5.22e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247604413T>C;NG_007509.2:g.29939T>C;NM_001079821.2:c.2670-2861T>C;NM_001127461.2:c.2499-2861T>C;NM_001127462.2:c.2499-2861T>C;NM_001243133.1:c.2664-2861T>C;NM_004895.4:c.2670-2861T>C;NM_183395.2:c.2328-2861T>C 17333084 11801389 CSHL-HuCC-200402.chr1.NT_004836.15_12267777 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247604414_247604417delTCTC;NG_007509.2:g.29940_29943delTCTC;NM_001079821.2:c.2670-2860_2670-2857delTCTC;NM_001127461.2:c.2499-2860_2499-2857delTCTC;NM_001127462.2:c.2499-2860_2499-2857delTCTC;NM_001243133.1:c.2664-2860_2664-2857delTCTC;NM_004895.4:c.2670-2860_2670-2857delTCTC;NM_183395.2:c.2328-2860_2328-2857delTCTC 499190901 201907901 20110316_indels_chr1_247604413_247604416 5.17e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604425_247604426insTT;NG_007509.2:g.29951_29952insTT;NM_001079821.2:c.2670-2849_2670-2848insTT;NM_001127461.2:c.2499-2849_2499-2848insTT;NM_001127462.2:c.2499-2849_2499-2848insTT;NM_001243133.1:c.2664-2849_2664-2848insTT;NM_004895.4:c.2670-2849_2670-2848insTT;NM_183395.2:c.2328-2849_2328-2848insTT 499190905 199915687 20110316_indels_chr1_247604425_247604426 3.71e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247604429T>C;NG_007509.2:g.29955T>C;NM_001079821.2:c.2670-2845T>C;NM_001127461.2:c.2499-2845T>C;NM_001127462.2:c.2499-2845T>C;NM_001243133.1:c.2664-2845T>C;NM_004895.4:c.2670-2845T>C;NM_183395.2:c.2328-2845T>C 17333091 11801391 CSHL-HuCC-200402.chr1.NT_004836.15_12267793 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247604430_247604437delTCTCTTTC;NG_007509.2:g.29956_29963delTCTCTTTC;NM_001079821.2:c.2670-2844_2670-2837delTCTCTTTC;NM_001127461.2:c.2499-2844_2499-2837delTCTCTTTC;NM_001127462.2:c.2499-2844_2499-2837delTCTCTTTC;NM_001243133.1:c.2664-2844_2664-2837delTCTCTTTC;NM_004895.4:c.2670-2844_2670-2837delTCTCTTTC;NM_183395.2:c.2328-2844_2328-2837delTCTCTTTC 99396804 71675612 INDEL_GP36_2007a_950460_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247604430_247604441delTCTCTTTCTTTC;NG_007509.2:g.29956_29967delTCTCTTTCTTTC;NM_001079821.2:c.2670-2844_2670-2833delTCTCTTTCTTTC;NM_001127461.2:c.2499-2844_2499-2833delTCTCTTTCTTTC;NM_001127462.2:c.2499-2844_2499-2833delTCTCTTTCTTTC;NM_001243133.1:c.2664-2844_2664-2833delTCTCTTTCTTTC;NM_004895.4:c.2670-2844_2670-2833delTCTCTTTCTTTC;NM_183395.2:c.2328-2844_2328-2833delTCTCTTTCTTTC 326158622 140812979 JPTCHB_chr1_245671052_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247604430_247604441delTCTCTTTCTTTC;NG_007509.2:g.29956_29967delTCTCTTTCTTTC;NM_001079821.2:c.2670-2844_2670-2833delTCTCTTTCTTTC;NM_001127461.2:c.2499-2844_2499-2833delTCTCTTTCTTTC;NM_001127462.2:c.2499-2844_2499-2833delTCTCTTTCTTTC;NM_001243133.1:c.2664-2844_2664-2833delTCTCTTTCTTTC;NM_004895.4:c.2670-2844_2670-2833delTCTCTTTCTTTC;NM_183395.2:c.2328-2844_2328-2833delTCTCTTTCTTTC 326164560 140812979 CEU_chr1_245671052_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 SC_SNP 114548 NC_000001.10:g.247604431C>T;NG_007509.2:g.29957C>T;NM_001079821.2:c.2670-2843C>T;NM_001127461.2:c.2499-2843C>T;NM_001127462.2:c.2499-2843C>T;NM_001243133.1:c.2664-2843C>T;NM_004895.4:c.2670-2843C>T;NM_183395.2:c.2328-2843C>T 18272599 12132272 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12267795 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604431delC;NC_000001.10:g.247604431delCinsCTCTTTCTTTCT;NG_007509.2:g.29957delC;NG_007509.2:g.29957delCinsCTCTTTCTTTCT;NM_001079821.2:c.2670-2843delC;NM_001079821.2:c.2670-2843delCinsCTCTTTCTTTCT;NM_001127461.2:c.2499-2843delC;NM_001127461.2:c.2499-2843delCinsCTCTTTCTTTCT;NM_001127462.2:c.2499-2843delC;NM_001127462.2:c.2499-2843delCinsCTCTTTCTTTCT;NM_001243133.1:c.2664-2843delC;NM_001243133.1:c.2664-2843delCinsCTCTTTCTTTCT;NM_004895.4:c.2670-2843delC;NM_004895.4:c.2670-2843delCinsCTCTTTCTTTCT;NM_183395.2:c.2328-2843delC;NM_183395.2:c.2328-2843delCinsCTCTTTCTTTCT 100301390 71914084 INDEL_GP36_2008a_1521519_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247604431C>T;NG_007509.2:g.29957C>T;NM_001079821.2:c.2670-2843C>T;NM_001127461.2:c.2499-2843C>T;NM_001127462.2:c.2499-2843C>T;NM_001243133.1:c.2664-2843C>T;NM_004895.4:c.2670-2843C>T;NM_183395.2:c.2328-2843C>T 205534544 12132272 BCM_CMT_1011-246211 2010.03.16 2010.03.16 2004.02.28 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247604432_247604439delTCTTTCTT;NG_007509.2:g.29958_29965delTCTTTCTT;NM_001079821.2:c.2670-2842_2670-2835delTCTTTCTT;NM_001127461.2:c.2499-2842_2499-2835delTCTTTCTT;NM_001127462.2:c.2499-2842_2499-2835delTCTTTCTT;NM_001243133.1:c.2664-2842_2664-2835delTCTTTCTT;NM_004895.4:c.2670-2842_2670-2835delTCTTTCTT;NM_183395.2:c.2328-2842_2328-2835delTCTTTCTT 326215346 144781516 YRI_chr1_245671054_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 CSHL-HAPMAP 114548 NC_000001.10:g.247604435T>C;NG_007509.2:g.29961T>C;NM_001079821.2:c.2670-2839T>C;NM_001127461.2:c.2499-2839T>C;NM_001127462.2:c.2499-2839T>C;NM_001243133.1:c.2664-2839T>C;NM_004895.4:c.2670-2839T>C;NM_183395.2:c.2328-2839T>C 17333093 11801392 CSHL-HuCC-200402.chr1.NT_004836.15_12267799 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 HGSV 114548 NC_000001.10:g.247604435_247604442delTTCTTTCT;NG_007509.2:g.29961_29968delTTCTTTCT;NM_001079821.2:c.2670-2839_2670-2832delTTCTTTCT;NM_001127461.2:c.2499-2839_2499-2832delTTCTTTCT;NM_001127462.2:c.2499-2839_2499-2832delTTCTTTCT;NM_001243133.1:c.2664-2839_2664-2832delTTCTTTCT;NM_004895.4:c.2670-2839_2670-2832delTTCTTTCT;NM_183395.2:c.2328-2839_2328-2832delTTCTTTCT 82974131 58587092 Cor19240_DIV_20070510.chr1_243930483-243930492_1 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604439delT;NC_000001.10:g.247604439delTinsTTCTTTCT;NG_007509.2:g.29965delT;NG_007509.2:g.29965delTinsTTCTTTCT;NM_001079821.2:c.2670-2835delT;NM_001079821.2:c.2670-2835delTinsTTCTTTCT;NM_001127461.2:c.2499-2835delT;NM_001127461.2:c.2499-2835delTinsTTCTTTCT;NM_001127462.2:c.2499-2835delT;NM_001127462.2:c.2499-2835delTinsTTCTTTCT;NM_001243133.1:c.2664-2835delT;NM_001243133.1:c.2664-2835delTinsTTCTTTCT;NM_004895.4:c.2670-2835delT;NM_004895.4:c.2670-2835delTinsTTCTTTCT;NM_183395.2:c.2328-2835delT;NM_183395.2:c.2328-2835delTinsTTCTTTCT 100804621 72024945 INDEL_GP36_2008a_2316624_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 BL 114548 NC_000001.10:g.247604441C>T;NG_007509.2:g.29967C>T;NM_001079821.2:c.2670-2833C>T;NM_001127461.2:c.2499-2833C>T;NM_001127462.2:c.2499-2833C>T;NM_001243133.1:c.2664-2833C>T;NM_004895.4:c.2670-2833C>T;NM_183395.2:c.2328-2833C>T 253949099 142687774 SNP242700_1_245671064 2010.08.19 2010.08.19 2011.05.09 2011.07.08 137 CSHL-HAPMAP 114548 NC_000001.10:g.247604443T>C;NG_007509.2:g.29969T>C;NM_001079821.2:c.2670-2831T>C;NM_001127461.2:c.2499-2831T>C;NM_001127462.2:c.2499-2831T>C;NM_001243133.1:c.2664-2831T>C;NM_004895.4:c.2670-2831T>C;NM_183395.2:c.2328-2831T>C 17333132 11801406 CSHL-HuCC-200402.chr1.NT_004836.15_12267807 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247604443T>C;NG_007509.2:g.29969T>C;NM_001079821.2:c.2670-2831T>C;NM_001127461.2:c.2499-2831T>C;NM_001127462.2:c.2499-2831T>C;NM_001243133.1:c.2664-2831T>C;NM_004895.4:c.2670-2831T>C;NM_183395.2:c.2328-2831T>C 199904037 11801406 BUSHMAN-chr1-245671065 2010.03.07 2010.03.07 2004.02.28 2011.09.09 137 GMI 114548 NC_000001.10:g.247604445C>T;NG_007509.2:g.29971C>T;NM_001079821.2:c.2670-2829C>T;NM_001127461.2:c.2499-2829C>T;NM_001127462.2:c.2499-2829C>T;NM_001243133.1:c.2664-2829C>T;NM_004895.4:c.2670-2829C>T;NM_183395.2:c.2328-2829C>T 276310584 200140833 GMI_AK_SNP_630751 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 HGSV 114548 NC_000001.10:g.247604447_247604452delTTCTCT;NG_007509.2:g.29973_29978delTTCTCT;NM_001079821.2:c.2670-2827_2670-2822delTTCTCT;NM_001127461.2:c.2499-2827_2499-2822delTTCTCT;NM_001127462.2:c.2499-2827_2499-2822delTTCTCT;NM_001243133.1:c.2664-2827_2664-2822delTTCTCT;NM_004895.4:c.2670-2827_2670-2822delTTCTCT;NM_183395.2:c.2328-2827_2328-2822delTTCTCT 80182623 57915110 Cor18507_DIV_20070510.chr1_243930487-243930494_1 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247604447T>C;NG_007509.2:g.29973T>C;NM_001079821.2:c.2670-2827T>C;NM_001127461.2:c.2499-2827T>C;NM_001127462.2:c.2499-2827T>C;NM_001243133.1:c.2664-2827T>C;NM_004895.4:c.2670-2827T>C;NM_183395.2:c.2328-2827T>C 199904041 111307268 BUSHMAN-chr1-245671069 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247604447T>C;NG_007509.2:g.29973T>C;NM_001079821.2:c.2670-2827T>C;NM_001127461.2:c.2499-2827T>C;NM_001127462.2:c.2499-2827T>C;NM_001243133.1:c.2664-2827T>C;NM_004895.4:c.2670-2827T>C;NM_183395.2:c.2328-2827T>C 205477870 111307268 BCM_CMT_1011-218024 2010.03.16 2010.03.16 2010.07.04 2011.09.09 137 BL 114548 NC_000001.10:g.247604447T>C;NG_007509.2:g.29973T>C;NM_001079821.2:c.2670-2827T>C;NM_001127461.2:c.2499-2827T>C;NM_001127462.2:c.2499-2827T>C;NM_001243133.1:c.2664-2827T>C;NM_004895.4:c.2670-2827T>C;NM_183395.2:c.2328-2827T>C 253949101 111307268 SNP242701_1_245671070 2010.08.19 2010.08.19 2010.07.04 2011.09.09 137 DEVINE_LAB 114548 NC_000001.10:g.247604462delT;NC_000001.10:g.247604462delTinsTTTC;NG_007509.2:g.29988delT;NG_007509.2:g.29988delTinsTTTC;NM_001079821.2:c.2670-2812delT;NM_001079821.2:c.2670-2812delTinsTTTC;NM_001127461.2:c.2499-2812delT;NM_001127461.2:c.2499-2812delTinsTTTC;NM_001127462.2:c.2499-2812delT;NM_001127462.2:c.2499-2812delTinsTTTC;NM_001243133.1:c.2664-2812delT;NM_001243133.1:c.2664-2812delTinsTTTC;NM_004895.4:c.2670-2812delT;NM_004895.4:c.2670-2812delTinsTTTC;NM_183395.2:c.2328-2812delT;NM_183395.2:c.2328-2812delTinsTTTC 99426429 71693624 INDEL_GP36_2007a_950461_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 GMI 114548 NC_000001.10:g.247604463T>C;NG_007509.2:g.29989T>C;NM_001079821.2:c.2670-2811T>C;NM_001127461.2:c.2499-2811T>C;NM_001127462.2:c.2499-2811T>C;NM_001243133.1:c.2664-2811T>C;NM_004895.4:c.2670-2811T>C;NM_183395.2:c.2328-2811T>C 276310585 201088673 GMI_AK_SNP_630752 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 114548 NC_000001.10:g.247604496delC;NG_007509.2:g.30022delC;NM_001079821.2:c.2670-2778delC;NM_001127461.2:c.2499-2778delC;NM_001127462.2:c.2499-2778delC;NM_001243133.1:c.2664-2778delC;NM_004895.4:c.2670-2778delC;NM_183395.2:c.2328-2778delC 101602617 66774877 INDEL_GP36_2008a_2106429_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604496delC;NG_007509.2:g.30022delC;NM_001079821.2:c.2670-2778delC;NM_001127461.2:c.2499-2778delC;NM_001127462.2:c.2499-2778delC;NM_001243133.1:c.2664-2778delC;NM_004895.4:c.2670-2778delC;NM_183395.2:c.2328-2778delC 101602621 66774877 INDEL_GP36_2008a_2106429_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247604499_247604500insT;NG_007509.2:g.30025_30026insT;NM_001079821.2:c.2670-2775_2670-2774insT;NM_001127461.2:c.2499-2775_2499-2774insT;NM_001127462.2:c.2499-2775_2499-2774insT;NM_001243133.1:c.2664-2775_2664-2774insT;NM_004895.4:c.2670-2775_2670-2774insT;NM_183395.2:c.2328-2775_2328-2774insT 499190910 202100942 20110316_indels_chr1_247604499_247604500 5.50e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604500C>T;NG_007509.2:g.30026C>T;NM_001079821.2:c.2670-2774C>T;NM_001127461.2:c.2499-2774C>T;NM_001127462.2:c.2499-2774C>T;NM_001243133.1:c.2664-2774C>T;NM_004895.4:c.2670-2774C>T;NM_183395.2:c.2328-2774C>T 80427858 57603567 Cor18507_SNV_20070510.chr1_243930541 2007.11.25 2007.11.25 2007.12.14 2011.07.08 137 HGSV 114548 NC_000001.10:g.247604503_247604504insCT;NC_000001.10:g.247604503_247604504insT;NG_007509.2:g.30029_30030insCT;NG_007509.2:g.30029_30030insT;NM_001079821.2:c.2670-2771_2670-2770insCT;NM_001079821.2:c.2670-2771_2670-2770insT;NM_001127461.2:c.2499-2771_2499-2770insCT;NM_001127461.2:c.2499-2771_2499-2770insT;NM_001127462.2:c.2499-2771_2499-2770insCT;NM_001127462.2:c.2499-2771_2499-2770insT;NM_001243133.1:c.2664-2771_2664-2770insCT;NM_001243133.1:c.2664-2771_2664-2770insT;NM_004895.4:c.2670-2771_2670-2770insCT;NM_004895.4:c.2670-2771_2670-2770insT;NM_183395.2:c.2328-2771_2328-2770insCT;NM_183395.2:c.2328-2771_2328-2770insT 80182626 58627755 Cor18507_DIV_20070510.chr1_243930544-243930545_1 2007.11.24 2007.11.24 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247604503C>T;NG_007509.2:g.30029C>T;NM_001079821.2:c.2670-2771C>T;NM_001127461.2:c.2499-2771C>T;NM_001127462.2:c.2499-2771C>T;NM_001243133.1:c.2664-2771C>T;NM_004895.4:c.2670-2771C>T;NM_183395.2:c.2328-2771C>T 205513980 112875622 BCM_CMT_1011-235824 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 GMI 114548 NC_000001.10:g.247604503_247604504insT;NG_007509.2:g.30029_30030insT;NM_001079821.2:c.2670-2771_2670-2770insT;NM_001127461.2:c.2499-2771_2499-2770insT;NM_001127462.2:c.2499-2771_2499-2770insT;NM_001243133.1:c.2664-2771_2664-2770insT;NM_004895.4:c.2670-2771_2670-2770insT;NM_183395.2:c.2328-2771_2328-2770insT 288119543 200975427 GMI_AK_INDEL_90637 2010.12.21 2011.12.23 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247604503_247604504insCT;NC_000001.10:g.247604503_247604504insT;NG_007509.2:g.30029_30030insCT;NG_007509.2:g.30029_30030insT;NM_001079821.2:c.2670-2771_2670-2770insCT;NM_001079821.2:c.2670-2771_2670-2770insT;NM_001127461.2:c.2499-2771_2499-2770insCT;NM_001127461.2:c.2499-2771_2499-2770insT;NM_001127462.2:c.2499-2771_2499-2770insCT;NM_001127462.2:c.2499-2771_2499-2770insT;NM_001243133.1:c.2664-2771_2664-2770insCT;NM_001243133.1:c.2664-2771_2664-2770insT;NM_004895.4:c.2670-2771_2670-2770insCT;NM_004895.4:c.2670-2771_2670-2770insT;NM_183395.2:c.2328-2771_2328-2770insCT;NM_183395.2:c.2328-2771_2328-2770insT 326158623 58627755 JPTCHB_chr1_245671126_indel 2011.03.11 2011.04.02 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604503_247604504insCT;NC_000001.10:g.247604503_247604504insT;NG_007509.2:g.30029_30030insCT;NG_007509.2:g.30029_30030insT;NM_001079821.2:c.2670-2771_2670-2770insCT;NM_001079821.2:c.2670-2771_2670-2770insT;NM_001127461.2:c.2499-2771_2499-2770insCT;NM_001127461.2:c.2499-2771_2499-2770insT;NM_001127462.2:c.2499-2771_2499-2770insCT;NM_001127462.2:c.2499-2771_2499-2770insT;NM_001243133.1:c.2664-2771_2664-2770insCT;NM_001243133.1:c.2664-2771_2664-2770insT;NM_004895.4:c.2670-2771_2670-2770insCT;NM_004895.4:c.2670-2771_2670-2770insT;NM_183395.2:c.2328-2771_2328-2770insCT;NM_183395.2:c.2328-2771_2328-2770insT 326164563 58627755 CEU_chr1_245671126_indel 2011.03.11 2011.04.01 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247604503_247604504insCT;NC_000001.10:g.247604503_247604504insT;NG_007509.2:g.30029_30030insCT;NG_007509.2:g.30029_30030insT;NM_001079821.2:c.2670-2771_2670-2770insCT;NM_001079821.2:c.2670-2771_2670-2770insT;NM_001127461.2:c.2499-2771_2499-2770insCT;NM_001127461.2:c.2499-2771_2499-2770insT;NM_001127462.2:c.2499-2771_2499-2770insCT;NM_001127462.2:c.2499-2771_2499-2770insT;NM_001243133.1:c.2664-2771_2664-2770insCT;NM_001243133.1:c.2664-2771_2664-2770insT;NM_004895.4:c.2670-2771_2670-2770insCT;NM_004895.4:c.2670-2771_2670-2770insT;NM_183395.2:c.2328-2771_2328-2770insCT;NM_183395.2:c.2328-2771_2328-2770insT 326215349 58627755 YRI_chr1_245671126_indel 2011.03.11 2011.04.02 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604504_247604505insCT;NC_000001.10:g.247604504_247604505insTC;NG_007509.2:g.30030_30031insCT;NG_007509.2:g.30030_30031insTC;NM_001079821.2:c.2670-2770_2670-2769insCT;NM_001079821.2:c.2670-2770_2670-2769insTC;NM_001127461.2:c.2499-2770_2499-2769insCT;NM_001127461.2:c.2499-2770_2499-2769insTC;NM_001127462.2:c.2499-2770_2499-2769insCT;NM_001127462.2:c.2499-2770_2499-2769insTC;NM_001243133.1:c.2664-2770_2664-2769insCT;NM_001243133.1:c.2664-2770_2664-2769insTC;NM_004895.4:c.2670-2770_2670-2769insCT;NM_004895.4:c.2670-2770_2670-2769insTC;NM_183395.2:c.2328-2770_2328-2769insCT;NM_183395.2:c.2328-2770_2328-2769insTC 82974136 60106854 Cor19240_DIV_20070510.chr1_243930545-243930546_1 2007.12.04 2007.12.04 2007.12.15 2012.05.16 137 DEVINE_LAB 114548 NC_000001.10:g.247604504_247604505insCT;NC_000001.10:g.247604504_247604505insTC;NG_007509.2:g.30030_30031insCT;NG_007509.2:g.30030_30031insTC;NM_001079821.2:c.2670-2770_2670-2769insCT;NM_001079821.2:c.2670-2770_2670-2769insTC;NM_001127461.2:c.2499-2770_2499-2769insCT;NM_001127461.2:c.2499-2770_2499-2769insTC;NM_001127462.2:c.2499-2770_2499-2769insCT;NM_001127462.2:c.2499-2770_2499-2769insTC;NM_001243133.1:c.2664-2770_2664-2769insCT;NM_001243133.1:c.2664-2770_2664-2769insTC;NM_004895.4:c.2670-2770_2670-2769insCT;NM_004895.4:c.2670-2770_2670-2769insTC;NM_183395.2:c.2328-2770_2328-2769insCT;NM_183395.2:c.2328-2770_2328-2769insTC 102164661 60106854 INDEL_GP36_2008a_2316625_0 2008.05.18 2008.05.18 2007.12.15 2012.05.16 137 GMI 114548 NC_000001.10:g.247604504_247604505insCT;NC_000001.10:g.247604504_247604505insTC;NG_007509.2:g.30030_30031insCT;NG_007509.2:g.30030_30031insTC;NM_001079821.2:c.2670-2770_2670-2769insCT;NM_001079821.2:c.2670-2770_2670-2769insTC;NM_001127461.2:c.2499-2770_2499-2769insCT;NM_001127461.2:c.2499-2770_2499-2769insTC;NM_001127462.2:c.2499-2770_2499-2769insCT;NM_001127462.2:c.2499-2770_2499-2769insTC;NM_001243133.1:c.2664-2770_2664-2769insCT;NM_001243133.1:c.2664-2770_2664-2769insTC;NM_004895.4:c.2670-2770_2670-2769insCT;NM_004895.4:c.2670-2770_2670-2769insTC;NM_183395.2:c.2328-2770_2328-2769insCT;NM_183395.2:c.2328-2770_2328-2769insTC 287692043 60106854 GMI_NA10851_INDEL_24671 2010.12.18 2010.12.20 2007.12.15 2012.05.16 137 GMI 114548 NC_000001.10:g.247604504_247604505insTC;NG_007509.2:g.30030_30031insTC;NM_001079821.2:c.2670-2770_2670-2769insTC;NM_001127461.2:c.2499-2770_2499-2769insTC;NM_001127462.2:c.2499-2770_2499-2769insTC;NM_001243133.1:c.2664-2770_2664-2769insTC;NM_004895.4:c.2670-2770_2670-2769insTC;NM_183395.2:c.2328-2770_2328-2769insTC 288119544 201627721 GMI_AK_INDEL_90638 2010.12.21 2011.12.23 2012.05.04 2012.05.04 137 HGSV 114548 NC_000001.10:g.247604552delT;NG_007509.2:g.30078delT;NM_001079821.2:c.2670-2722delT;NM_001127461.2:c.2499-2722delT;NM_001127462.2:c.2499-2722delT;NM_001243133.1:c.2664-2722delT;NM_004895.4:c.2670-2722delT;NM_183395.2:c.2328-2722delT 81582472 57619191 Cor18956_DIV_20070510.chr1_243930598-243930600_1 2007.11.30 2007.11.30 2007.12.14 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604552delT;NG_007509.2:g.30078delT;NM_001079821.2:c.2670-2722delT;NM_001127461.2:c.2499-2722delT;NM_001127462.2:c.2499-2722delT;NM_001243133.1:c.2664-2722delT;NM_004895.4:c.2670-2722delT;NM_183395.2:c.2328-2722delT 101520861 57619191 INDEL_GP36_2008a_2185298_0 2008.05.17 2008.05.17 2007.12.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247604921T>C;NG_007509.2:g.30447T>C;NM_001079821.2:c.2670-2353T>C;NM_001127461.2:c.2499-2353T>C;NM_001127462.2:c.2499-2353T>C;NM_001243133.1:c.2664-2353T>C;NM_004895.4:c.2670-2353T>C;NM_183395.2:c.2328-2353T>C 219005725 76833078 pilot_1_YRI_815408_chr1_245671544 1.28e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604921T>C;NG_007509.2:g.30447T>C;NM_001079821.2:c.2670-2353T>C;NM_001127461.2:c.2499-2353T>C;NM_001127462.2:c.2499-2353T>C;NM_001243133.1:c.2664-2353T>C;NM_004895.4:c.2670-2353T>C;NM_183395.2:c.2328-2353T>C 480795295 76833078 HumanOmni2.5-4v1_D_kgp15223103-0_T_R_1835879157 1.28e-02 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604921T>C;NG_007509.2:g.30447T>C;NM_001079821.2:c.2670-2353T>C;NM_001127461.2:c.2499-2353T>C;NM_001127462.2:c.2499-2353T>C;NM_001243133.1:c.2664-2353T>C;NM_004895.4:c.2670-2353T>C;NM_183395.2:c.2328-2353T>C 482298455 76833078 HumanOmni2.5-4v1_B_SNP1-245671544-0_T_R_1630923775 1.28e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247604926G>A;NG_007509.2:g.30452G>A;NM_001079821.2:c.2670-2348G>A;NM_001127461.2:c.2499-2348G>A;NM_001127462.2:c.2499-2348G>A;NM_001243133.1:c.2664-2348G>A;NM_004895.4:c.2670-2348G>A;NM_183395.2:c.2328-2348G>A 199904045 113683562 BUSHMAN-chr1-245671548 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247604954G>A;NG_007509.2:g.30480G>A;NM_001079821.2:c.2670-2320G>A;NM_001127461.2:c.2499-2320G>A;NM_001127462.2:c.2499-2320G>A;NM_001243133.1:c.2664-2320G>A;NM_004895.4:c.2670-2320G>A;NM_183395.2:c.2328-2320G>A 454808196 184176870 20101123_snps_975426_chr1_247604954 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 114548 NC_000001.10:g.247604973_247604974insATGTT;NG_007509.2:g.30499_30500insATGTT;NM_001079821.2:c.2670-2301_2670-2300insATGTT;NM_001127461.2:c.2499-2301_2499-2300insATGTT;NM_001127462.2:c.2499-2301_2499-2300insATGTT;NM_001243133.1:c.2664-2301_2664-2300insATGTT;NM_004895.4:c.2670-2301_2670-2300insATGTT;NM_183395.2:c.2328-2301_2328-2300insATGTT 193163330 113502068 BUSHMAN-chr1-245671596-245671596 2010.02.16 2010.02.16 2010.07.04 2011.10.06 137 GMI 114548 NC_000001.10:g.247604973G>T;NG_007509.2:g.30499G>T;NM_001079821.2:c.2670-2301G>T;NM_001127461.2:c.2499-2301G>T;NM_001127462.2:c.2499-2301G>T;NM_001243133.1:c.2664-2301G>T;NM_004895.4:c.2670-2301G>T;NM_183395.2:c.2328-2301G>T 276310586 201994166 GMI_AK_SNP_630753 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247604973_247604974insATGTT;NG_007509.2:g.30499_30500insATGTT;NM_001079821.2:c.2670-2301_2670-2300insATGTT;NM_001127461.2:c.2499-2301_2499-2300insATGTT;NM_001127462.2:c.2499-2301_2499-2300insATGTT;NM_001243133.1:c.2664-2301_2664-2300insATGTT;NM_004895.4:c.2670-2301_2670-2300insATGTT;NM_183395.2:c.2328-2301_2328-2300insATGTT 326158626 113502068 JPTCHB_chr1_245671596_indel 2011.03.11 2011.04.02 2010.07.04 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247604973_247604974insATGTT;NG_007509.2:g.30499_30500insATGTT;NM_001079821.2:c.2670-2301_2670-2300insATGTT;NM_001127461.2:c.2499-2301_2499-2300insATGTT;NM_001127462.2:c.2499-2301_2499-2300insATGTT;NM_001243133.1:c.2664-2301_2664-2300insATGTT;NM_004895.4:c.2670-2301_2670-2300insATGTT;NM_183395.2:c.2328-2301_2328-2300insATGTT 326164566 113502068 CEU_chr1_245671596_indel 2011.03.11 2011.04.01 2010.07.04 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247604973_247604974insATGTT;NG_007509.2:g.30499_30500insATGTT;NM_001079821.2:c.2670-2301_2670-2300insATGTT;NM_001127461.2:c.2499-2301_2499-2300insATGTT;NM_001127462.2:c.2499-2301_2499-2300insATGTT;NM_001243133.1:c.2664-2301_2664-2300insATGTT;NM_004895.4:c.2670-2301_2670-2300insATGTT;NM_183395.2:c.2328-2301_2328-2300insATGTT 326215351 113502068 YRI_chr1_245671596_indel 2011.03.11 2011.04.02 2010.07.04 2011.10.06 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361790 66644236 INDEL_GP36_2008a_2106430_0 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361793 66644236 INDEL_GP36_2008a_2106430_1 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361795 66644236 INDEL_GP36_2008a_2106430_2 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361798 66644236 INDEL_GP36_2008a_2106430_3 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361802 66644236 INDEL_GP36_2008a_2106430_4 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 DEVINE_LAB 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 101361804 66644236 INDEL_GP36_2008a_2106430_5 2008.05.17 2008.05.17 2009.02.04 2011.09.17 137 PJP 114548 NC_000001.10:g.247604974_247604975insATGTT;NG_007509.2:g.30500_30501insATGTT;NM_001079821.2:c.2670-2300_2670-2299insATGTT;NM_001127461.2:c.2499-2300_2499-2299insATGTT;NM_001127462.2:c.2499-2300_2499-2299insATGTT;NM_001243133.1:c.2664-2300_2664-2299insATGTT;NM_004895.4:c.2670-2300_2670-2299insATGTT;NM_183395.2:c.2328-2300_2328-2299insATGTT 294636727 66644236 DIP_74431_chr1_245671597 2011.01.21 2011.01.21 2009.02.04 2011.09.17 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 81582465 59129056 Cor18956_DIV_20070510.chr1_243931018-243931019_1 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 81596733 59129056 Cor19129_DIV_20070510.chr1_243931018-243931019_1 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 81606128 59129056 Cor19129_DIV_20070510.chr1_243931018-243931019_2 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 81684063 59129056 Cor18956_DIV_20070510.chr1_243931018-243931019_2 2007.12.01 2007.12.01 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 81791303 59129056 Cor18956_DIV_20070510.chr1_243931018-243931019_3 2007.12.01 2007.12.01 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 82028875 59129056 Cor19129_DIV_20070510.chr1_243931018-243931019_3 2007.12.02 2007.12.02 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 287692044 59129056 GMI_NA10851_INDEL_24672 2010.12.18 2010.12.20 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247604977_247604978insTATGT;NG_007509.2:g.30503_30504insTATGT;NM_001079821.2:c.2670-2297_2670-2296insTATGT;NM_001127461.2:c.2499-2297_2499-2296insTATGT;NM_001127462.2:c.2499-2297_2499-2296insTATGT;NM_001243133.1:c.2664-2297_2664-2296insTATGT;NM_004895.4:c.2670-2297_2670-2296insTATGT;NM_183395.2:c.2328-2297_2328-2296insTATGT 288119547 59129056 GMI_AK_INDEL_90639 2010.12.21 2011.12.23 2007.12.15 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247604978_247604979insTATGT;NG_007509.2:g.30504_30505insTATGT;NM_001079821.2:c.2670-2296_2670-2295insTATGT;NM_001127461.2:c.2499-2296_2499-2295insTATGT;NM_001127462.2:c.2499-2296_2499-2295insTATGT;NM_001243133.1:c.2664-2296_2664-2295insTATGT;NM_004895.4:c.2670-2296_2670-2295insTATGT;NM_183395.2:c.2328-2296_2328-2295insTATGT 101854024 66510207 INDEL_GP36_2008a_2851678_0 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 DEVINE_LAB 114548 NC_000001.10:g.247604978_247604979insTATGT;NG_007509.2:g.30504_30505insTATGT;NM_001079821.2:c.2670-2296_2670-2295insTATGT;NM_001127461.2:c.2499-2296_2499-2295insTATGT;NM_001127462.2:c.2499-2296_2499-2295insTATGT;NM_001243133.1:c.2664-2296_2664-2295insTATGT;NM_004895.4:c.2670-2296_2670-2295insTATGT;NM_183395.2:c.2328-2296_2328-2295insTATGT 101854027 66510207 INDEL_GP36_2008a_2851678_1 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 ILLUMINA 114548 NC_000001.10:g.247604978C>T;NG_007509.2:g.30504C>T;NM_001079821.2:c.2670-2296C>T;NM_001127461.2:c.2499-2296C>T;NM_001127462.2:c.2499-2296C>T;NM_001243133.1:c.2664-2296C>T;NM_004895.4:c.2670-2296C>T;NM_183395.2:c.2328-2296C>T 479162960 201043197 HumanOmni2.5-4v1_D_kgp10028679-0_T_R_1820613040 2012.01.30 2012.01.30 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247604978C>T;NG_007509.2:g.30504C>T;NM_001079821.2:c.2670-2296C>T;NM_001127461.2:c.2499-2296C>T;NM_001127462.2:c.2499-2296C>T;NM_001243133.1:c.2664-2296C>T;NM_004895.4:c.2670-2296C>T;NM_183395.2:c.2328-2296C>T 482298458 201043197 HumanOmni2.5-4v1_B_SNP1-245671601-0_T_R_1633553913 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605003T>C;NG_007509.2:g.30529T>C;NM_001079821.2:c.2670-2271T>C;NM_001127461.2:c.2499-2271T>C;NM_001127462.2:c.2499-2271T>C;NM_001243133.1:c.2664-2271T>C;NM_004895.4:c.2670-2271T>C;NM_183395.2:c.2328-2271T>C 329363874 145442949 20100804_snps_1007410_chr1_247605003 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247605055A>G;NG_007509.2:g.30581A>G;NM_001079821.2:c.2670-2219A>G;NM_001127461.2:c.2499-2219A>G;NM_001127462.2:c.2499-2219A>G;NM_001243133.1:c.2664-2219A>G;NM_004895.4:c.2670-2219A>G;NM_183395.2:c.2328-2219A>G 454808197 188333578 20101123_snps_975427_chr1_247605055 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247605064G>A;NG_007509.2:g.30590G>A;NM_001079821.2:c.2670-2210G>A;NM_001127461.2:c.2499-2210G>A;NM_001127462.2:c.2499-2210G>A;NM_001243133.1:c.2664-2210G>A;NM_004895.4:c.2670-2210G>A;NM_183395.2:c.2328-2210G>A 454808198 193198118 20101123_snps_975428_chr1_247605064 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 119287793 74154644 NA18507_000265624_NCBI36.1_chr1_245671750 1.19e-01 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 165962016 74154644 NA07022_36_chr1_245671750 1.19e-01 2009.09.30 2009.09.30 2009.02.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 199904049 74154644 BUSHMAN-chr1-245671749 1.19e-01 2010.03.07 2010.03.07 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 210793815 74154644 YRI.trio.3.2010_117444_chr1_245671750 1.19e-01 2010.03.29 2010.03.29 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 219005726 74154644 pilot_1_YRI_815409_chr1_245671750 1.19e-01 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 230995519 74154644 pilot_1_CEU_600148_chr1_245671750 1.19e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 238590478 74154644 pilot_1_CHB+JPT_475555_chr1_245671750 1.19e-01 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 276310587 74154644 GMI_AK_SNP_630754 1.19e-01 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 482298461 74154644 HumanOmni2.5-4v1_B_SNP1-245671750-0_T_R_1631731971 1.19e-01 2012.02.01 2012.02.01 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605127C>T;NG_007509.2:g.30653C>T;NM_001079821.2:c.2670-2147C>T;NM_001127461.2:c.2499-2147C>T;NM_001127462.2:c.2499-2147C>T;NM_001243133.1:c.2664-2147C>T;NM_004895.4:c.2670-2147C>T;NM_183395.2:c.2328-2147C>T 483612978 74154644 HumanOmni2.5-4v1_D_kgp5831726-0_T_R_1820964514 1.19e-01 2012.02.02 2012.02.02 2009.02.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247605221G>A;NG_007509.2:g.30747G>A;NM_001079821.2:c.2670-2053G>A;NM_001127461.2:c.2499-2053G>A;NM_001127462.2:c.2499-2053G>A;NM_001243133.1:c.2664-2053G>A;NM_004895.4:c.2670-2053G>A;NM_183395.2:c.2328-2053G>A 85967688 58287798 Cor19129_SNV_20070510.chr1_243931262 3.94e-02 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605221G>A;NG_007509.2:g.30747G>A;NM_001079821.2:c.2670-2053G>A;NM_001127461.2:c.2499-2053G>A;NM_001127462.2:c.2499-2053G>A;NM_001243133.1:c.2664-2053G>A;NM_004895.4:c.2670-2053G>A;NM_183395.2:c.2328-2053G>A 219005727 58287798 pilot_1_YRI_815410_chr1_245671844 3.94e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605221G>A;NG_007509.2:g.30747G>A;NM_001079821.2:c.2670-2053G>A;NM_001127461.2:c.2499-2053G>A;NM_001127462.2:c.2499-2053G>A;NM_001243133.1:c.2664-2053G>A;NM_004895.4:c.2670-2053G>A;NM_183395.2:c.2328-2053G>A 230995520 58287798 pilot_1_CEU_600149_chr1_245671844 3.94e-02 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605221G>A;NG_007509.2:g.30747G>A;NM_001079821.2:c.2670-2053G>A;NM_001127461.2:c.2499-2053G>A;NM_001127462.2:c.2499-2053G>A;NM_001243133.1:c.2664-2053G>A;NM_004895.4:c.2670-2053G>A;NM_183395.2:c.2328-2053G>A 479398235 58287798 HumanOmni2.5-4v1_D_kgp10660076-0_T_F_1818043418 3.94e-02 2012.01.30 2012.01.30 2007.12.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605221G>A;NG_007509.2:g.30747G>A;NM_001079821.2:c.2670-2053G>A;NM_001127461.2:c.2499-2053G>A;NM_001127462.2:c.2499-2053G>A;NM_001243133.1:c.2664-2053G>A;NM_004895.4:c.2670-2053G>A;NM_183395.2:c.2328-2053G>A 482298465 58287798 HumanOmni2.5-4v1_B_SNP1-245671844-0_T_F_1617597005 3.94e-02 2012.02.01 2012.02.01 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605374G>A;NG_007509.2:g.30900G>A;NM_001079821.2:c.2670-1900G>A;NM_001127461.2:c.2499-1900G>A;NM_001127462.2:c.2499-1900G>A;NM_001243133.1:c.2664-1900G>A;NM_004895.4:c.2670-1900G>A;NM_183395.2:c.2328-1900G>A 329363875 148332327 20100804_snps_1007411_chr1_247605374 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WUGSC_SSAHASNP 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 14018296 10157377 chr1.NT_004836.15_12268845 2.70e-03 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 ABI 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 41150792 10157377 hCV30526282 2.70e-03 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 78491884 10157377 Cor12878_SNV_20070510.chr1_243931522 2.70e-03 2007.10.19 2007.10.19 2003.12.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 83882320 10157377 Cor18956_SNV_20070510.chr1_243931522 2.70e-03 2007.12.06 2007.12.06 2003.12.05 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 88051309 10157377 JWB-0217811 2.70e-03 2008.02.27 2008.02.27 2003.12.05 2012.11.28 137 BGI 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 106647990 10157377 BGI_rs10157377 2.70e-03 2008.09.17 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 109136610 10157377 CEU.trio.12.15.2008_293452_chr1_245672104 2.70e-03 2008.12.16 2008.12.16 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 112114638 10157377 NA19240_2008_12_16_266144_chr1_245672104 2.70e-03 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 119287795 10157377 NA18507_000265625_NCBI36.1_chr1_245672104 2.70e-03 2009.01.22 2009.01.22 2003.12.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 138194282 10157377 ENSSNP6389096 2.70e-03 2009.05.17 2009.05.17 2003.12.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 138997902 10157377 ENSSNP197719 2.70e-03 2009.05.18 2009.10.16 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 156564078 10157377 GMI_SNP_35966100 2.70e-03 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 165636617 10157377 NA19240_36_chr1_245672104 2.70e-03 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 165962019 10157377 NA07022_36_chr1_245672104 2.70e-03 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 199904053 10157377 BUSHMAN-chr1-245672103 2.70e-03 2010.03.07 2010.03.07 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 205212879 10157377 BCM_CMT_1011-86182 2.70e-03 2010.03.15 2010.03.15 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 219005728 10157377 pilot_1_YRI_815411_chr1_245672104 2.70e-03 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 230995521 10157377 pilot_1_CEU_600150_chr1_245672104 2.70e-03 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 238590479 10157377 pilot_1_CHB+JPT_475556_chr1_245672104 2.70e-03 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 253949105 10157377 SNP242702_1_245672104 2.70e-03 2010.08.19 2010.08.19 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 276310588 10157377 GMI_AK_SNP_630755 2.70e-03 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247605481C>T;NG_007509.2:g.31007C>T;NM_001079821.2:c.2670-1793C>T;NM_001127461.2:c.2499-1793C>T;NM_001127462.2:c.2499-1793C>T;NM_001243133.1:c.2664-1793C>T;NM_004895.4:c.2670-1793C>T;NM_183395.2:c.2328-1793C>T 290789464 10157377 SNP_295822_chr1_245672104 2.70e-03 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605501T>C;NG_007509.2:g.31027T>C;NM_001079821.2:c.2670-1773T>C;NM_001127461.2:c.2499-1773T>C;NM_001127462.2:c.2499-1773T>C;NM_001243133.1:c.2664-1773T>C;NM_004895.4:c.2670-1773T>C;NM_183395.2:c.2328-1773T>C 219005729 79209520 pilot_1_YRI_815412_chr1_245672124 3.94e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247605501T>C;NG_007509.2:g.31027T>C;NM_001079821.2:c.2670-1773T>C;NM_001127461.2:c.2499-1773T>C;NM_001127462.2:c.2499-1773T>C;NM_001243133.1:c.2664-1773T>C;NM_004895.4:c.2670-1773T>C;NM_183395.2:c.2328-1773T>C 230995522 79209520 pilot_1_CEU_600151_chr1_245672124 3.94e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247605525C>T;NG_007509.2:g.31051C>T;NM_001079821.2:c.2670-1749C>T;NM_001127461.2:c.2499-1749C>T;NM_001127462.2:c.2499-1749C>T;NM_001243133.1:c.2664-1749C>T;NM_004895.4:c.2670-1749C>T;NM_183395.2:c.2328-1749C>T 199904057 78808197 BUSHMAN-chr1-245672147 3.20e-03 2010.03.07 2010.03.07 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247605525C>T;NG_007509.2:g.31051C>T;NM_001079821.2:c.2670-1749C>T;NM_001127461.2:c.2499-1749C>T;NM_001127462.2:c.2499-1749C>T;NM_001243133.1:c.2664-1749C>T;NM_004895.4:c.2670-1749C>T;NM_183395.2:c.2328-1749C>T 329363876 78808197 20100804_snps_1007412_chr1_247605525 3.20e-03 2011.03.22 2011.03.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247605545G>C;NG_007509.2:g.31071G>C;NM_001079821.2:c.2670-1729G>C;NM_001127461.2:c.2499-1729G>C;NM_001127462.2:c.2499-1729G>C;NM_001243133.1:c.2664-1729G>C;NM_004895.4:c.2670-1729G>C;NM_183395.2:c.2328-1729G>C 219005730 114936541 pilot_1_YRI_815413_chr1_245672168 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WUGSC_SSAHASNP 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 14018300 10157379 chr1.NT_004836.15_12268963 3.82e-01 2003.11.05 2006.10.25 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 66631944 10157379 HumanHap300v1.1_rs10157379 3.82e-01 2006.11.09 2006.11.09 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 66873202 10157379 HumanHap550v1.1_rs10157379 3.82e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 66953483 10157379 HumanHap650Yv1.0_rs10157379 3.82e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 70360571 10157379 HumanHap300v2.0_rs10157379 3.82e-01 2007.04.18 2007.11.17 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 70468719 10157379 HumanHap550v3.0__rs10157379 3.82e-01 2007.04.20 2008.03.29 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 70990244 10157379 HumanHap650Yv3.0_rs10157379 3.82e-01 2007.04.23 2007.04.23 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 75511056 10157379 ILMN_Human_1M_rs10157379 3.82e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 84914425 10157379 KHS846869 3.82e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 86183367 10157379 Cor18956_SNV_20070510.chr1_243931640 3.82e-01 2007.12.11 2007.12.11 2003.12.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 86192744 10157379 Cor18517_SNV_20070510.chr1_243931640 3.82e-01 2007.12.11 2007.12.11 2003.12.05 2012.11.28 137 BGI 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 106647991 10157379 BGI_rs10157379 3.82e-01 2008.09.17 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 109136614 10157379 CEU.trio.12.15.2008_293453_chr1_245672222 3.82e-01 2008.12.16 2008.12.16 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 112114647 10157379 NA19240_2008_12_16_266145_chr1_245672222 3.82e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 119287796 10157379 NA18507_000265626_NCBI36.1_chr1_245672222 3.82e-01 2009.01.22 2009.01.22 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 121275262 10157379 HumanCNV370v1_C_rs10157379 3.82e-01 2009.04.14 2009.04.14 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 152587731 10157379 Human610_Quadv1_B_rs10157379-128_T_R_1501594599 3.82e-01 2009.06.18 2009.06.19 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 156564089 10157379 GMI_SNP_101057617 3.82e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 159112744 10157379 Human660W-Quad_v1_A_rs10157379-128_T_R_1501594599 3.82e-01 2009.07.06 2009.07.06 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 165636625 10157379 NA19240_36_chr1_245672222 3.82e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 165962022 10157379 NA07022_36_chr1_245672222 3.82e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 167597260 10157379 NA20431_36_chr1_245672222 3.82e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 169291457 10157379 HumanCNV370-Quadv3_C_rs10157379-128_T_R_1501594599 3.82e-01 2009.10.01 2009.10.02 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 169768707 10157379 Human1M-Duov3_B_rs10157379-128_T_R_1501594599 3.82e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 199904061 10157379 BUSHMAN-chr1-245672221 3.82e-01 2010.03.07 2010.03.07 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 205113377 10157379 BCM_CMT_1011-36612 3.82e-01 2010.03.15 2010.03.15 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 219005731 10157379 pilot_1_YRI_815414_chr1_245672222 3.82e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 230995523 10157379 pilot_1_CEU_600152_chr1_245672222 3.82e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 238590480 10157379 pilot_1_CHB+JPT_475557_chr1_245672222 3.82e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 253949108 10157379 SNP242703_1_245672222 3.82e-01 2010.08.19 2010.08.19 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 276310589 10157379 GMI_AK_SNP_630756 3.82e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247605599C>T;NG_007509.2:g.31125C>T;NM_001079821.2:c.2670-1675C>T;NM_001127461.2:c.2499-1675C>T;NM_001127462.2:c.2499-1675C>T;NM_001243133.1:c.2664-1675C>T;NM_004895.4:c.2670-1675C>T;NM_183395.2:c.2328-1675C>T 290789465 10157379 SNP_295823_chr1_245672222 3.82e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605604A>G;NG_007509.2:g.31130A>G;NM_001079821.2:c.2670-1670A>G;NM_001127461.2:c.2499-1670A>G;NM_001127462.2:c.2499-1670A>G;NM_001243133.1:c.2664-1670A>G;NM_004895.4:c.2670-1670A>G;NM_183395.2:c.2328-1670A>G 219005732 74815978 pilot_1_YRI_815415_chr1_245672227 3.94e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605604A>G;NG_007509.2:g.31130A>G;NM_001079821.2:c.2670-1670A>G;NM_001127461.2:c.2499-1670A>G;NM_001127462.2:c.2499-1670A>G;NM_001243133.1:c.2664-1670A>G;NM_004895.4:c.2670-1670A>G;NM_183395.2:c.2328-1670A>G 230995524 74815978 pilot_1_CEU_600153_chr1_245672227 3.94e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605604A>G;NG_007509.2:g.31130A>G;NM_001079821.2:c.2670-1670A>G;NM_001127461.2:c.2499-1670A>G;NM_001127462.2:c.2499-1670A>G;NM_001243133.1:c.2664-1670A>G;NM_004895.4:c.2670-1670A>G;NM_183395.2:c.2328-1670A>G 482298468 74815978 HumanOmni2.5-4v1_B_SNP1-245672227-0_B_R_1632768028 3.94e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605604A>G;NG_007509.2:g.31130A>G;NM_001079821.2:c.2670-1670A>G;NM_001127461.2:c.2499-1670A>G;NM_001127462.2:c.2499-1670A>G;NM_001243133.1:c.2664-1670A>G;NM_004895.4:c.2670-1670A>G;NM_183395.2:c.2328-1670A>G 483341242 74815978 HumanOmni2.5-4v1_D_kgp4353757-0_B_R_1817309801 3.94e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 WUGSC_SSAHASNP 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 14018454 10157521 chr1.NT_004836.15_12269032 3.62e-02 2003.11.05 2006.10.25 2003.12.05 2012.11.28 137 AFFY 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 66315948 10157521 SNP_A-1884075 3.62e-02 2006.10.29 2008.03.31 2003.12.05 2012.11.28 137 AFFY 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 76000253 10157521 AFFY_6_1M_SNP_A-1884075 3.62e-02 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 82665369 10157521 KHS305213 3.62e-02 2007.12.03 2007.12.03 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 112114656 10157521 NA19240_2008_12_16_266146_chr1_245672291 3.62e-02 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 165636633 10157521 NA19240_36_chr1_245672291 3.62e-02 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 AFFY 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 170226547 10157521 GenomeWideSNP_5_SNP_A-1884075 3.62e-02 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 219005733 10157521 pilot_1_YRI_815416_chr1_245672291 3.62e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 244268084 10157521 CVDSNP55v1_A_rs10157521 3.62e-02 2010.06.10 2010.06.10 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 480903523 10157521 HumanOmni2.5-4v1_D_kgp15634426-0_T_R_1837250804 3.62e-02 2012.01.31 2012.01.31 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247605668C>T;NG_007509.2:g.31194C>T;NM_001079821.2:c.2670-1606C>T;NM_001127461.2:c.2499-1606C>T;NM_001127462.2:c.2499-1606C>T;NM_001243133.1:c.2664-1606C>T;NM_004895.4:c.2670-1606C>T;NM_183395.2:c.2328-1606C>T 482298472 10157521 HumanOmni2.5-4v1_B_SNP1-245672291-0_T_R_1630934787 3.62e-02 2012.02.01 2012.02.01 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605673T>G;NG_007509.2:g.31199T>G;NM_001079821.2:c.2670-1601T>G;NM_001127461.2:c.2499-1601T>G;NM_001127462.2:c.2499-1601T>G;NM_001243133.1:c.2664-1601T>G;NM_004895.4:c.2670-1601T>G;NM_183395.2:c.2328-1601T>G 329363877 150420303 20100804_snps_1007413_chr1_247605673 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247605674T>C;NG_007509.2:g.31200T>C;NM_001079821.2:c.2670-1600T>C;NM_001127461.2:c.2499-1600T>C;NM_001127462.2:c.2499-1600T>C;NM_001243133.1:c.2664-1600T>C;NM_004895.4:c.2670-1600T>C;NM_183395.2:c.2328-1600T>C 329363878 138162641 20100804_snps_1007414_chr1_247605674 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247605795A>C;NG_007509.2:g.31321A>C;NM_001079821.2:c.2670-1479A>C;NM_001127461.2:c.2499-1479A>C;NM_001127462.2:c.2499-1479A>C;NM_001243133.1:c.2664-1479A>C;NM_004895.4:c.2670-1479A>C;NM_183395.2:c.2328-1479A>C 119287798 74154645 NA18507_000265627_NCBI36.1_chr1_245672418 5.50e-03 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605795A>C;NG_007509.2:g.31321A>C;NM_001079821.2:c.2670-1479A>C;NM_001127461.2:c.2499-1479A>C;NM_001127462.2:c.2499-1479A>C;NM_001243133.1:c.2664-1479A>C;NM_004895.4:c.2670-1479A>C;NM_183395.2:c.2328-1479A>C 329363879 74154645 20100804_snps_1007415_chr1_247605795 5.50e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605867A>G;NG_007509.2:g.31393A>G;NM_001079821.2:c.2670-1407A>G;NM_001127461.2:c.2499-1407A>G;NM_001127462.2:c.2499-1407A>G;NM_001243133.1:c.2664-1407A>G;NM_004895.4:c.2670-1407A>G;NM_183395.2:c.2328-1407A>G 238590481 77937171 pilot_1_CHB+JPT_475558_chr1_245672490 1.28e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 ILLUMINA-UK 114548 NC_000001.10:g.247605956C>T;NG_007509.2:g.31482C>T;NM_001079821.2:c.2670-1318C>T;NM_001127461.2:c.2499-1318C>T;NM_001127462.2:c.2499-1318C>T;NM_001243133.1:c.2664-1318C>T;NM_004895.4:c.2670-1318C>T;NM_183395.2:c.2328-1318C>T 119287799 74154646 NA18507_000265628_NCBI36.1_chr1_245672579 5.50e-03 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247605956C>T;NG_007509.2:g.31482C>T;NM_001079821.2:c.2670-1318C>T;NM_001127461.2:c.2499-1318C>T;NM_001127462.2:c.2499-1318C>T;NM_001243133.1:c.2664-1318C>T;NM_004895.4:c.2670-1318C>T;NM_183395.2:c.2328-1318C>T 329363880 74154646 20100804_snps_1007416_chr1_247605956 5.50e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247606047T>G;NG_007509.2:g.31573T>G;NM_001079821.2:c.2670-1227T>G;NM_001127461.2:c.2499-1227T>G;NM_001127462.2:c.2499-1227T>G;NM_001243133.1:c.2664-1227T>G;NM_004895.4:c.2670-1227T>G;NM_183395.2:c.2328-1227T>G 199904065 112264078 BUSHMAN-chr1-245672669 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247606056A>C;NG_007509.2:g.31582A>C;NM_001079821.2:c.2670-1218A>C;NM_001127461.2:c.2499-1218A>C;NM_001127462.2:c.2499-1218A>C;NM_001243133.1:c.2664-1218A>C;NM_004895.4:c.2670-1218A>C;NM_183395.2:c.2328-1218A>C 454808199 182887509 20101123_snps_975429_chr1_247606056 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247606065T>A;NG_007509.2:g.31591T>A;NM_001079821.2:c.2670-1209T>A;NM_001127461.2:c.2499-1209T>A;NM_001127462.2:c.2499-1209T>A;NM_001243133.1:c.2664-1209T>A;NM_004895.4:c.2670-1209T>A;NM_183395.2:c.2328-1209T>A 454808200 186857829 20101123_snps_975430_chr1_247606065 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 114548 NC_000001.10:g.247606098C>T;NG_007509.2:g.31624C>T;NM_001079821.2:c.2670-1176C>T;NM_001127461.2:c.2499-1176C>T;NM_001127462.2:c.2499-1176C>T;NM_001243133.1:c.2664-1176C>T;NM_004895.4:c.2670-1176C>T;NM_183395.2:c.2328-1176C>T 276310590 200273780 GMI_AK_SNP_630757 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247606198C>T;NG_007509.2:g.31724C>T;NM_001079821.2:c.2670-1076C>T;NM_001127461.2:c.2499-1076C>T;NM_001127462.2:c.2499-1076C>T;NM_001243133.1:c.2664-1076C>T;NM_004895.4:c.2670-1076C>T;NM_183395.2:c.2328-1076C>T 454808201 191746557 20101123_snps_975431_chr1_247606198 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 78423555 56188865 Cor12878_SNV_20070510.chr1_243932317 4.00e-01 2007.10.19 2007.10.19 2007.12.07 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 88051311 56188865 JWB-2759469 4.00e-01 2008.02.27 2008.02.27 2007.12.07 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 138194283 56188865 ENSSNP11747585 4.00e-01 2009.05.17 2009.05.17 2007.12.07 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 144215668 56188865 ENSSNP5585869 4.00e-01 2009.06.06 2009.10.17 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 165636643 56188865 NA19240_36_chr1_245672899 4.00e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 167597262 56188865 NA20431_36_chr1_245672899 4.00e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 199904069 56188865 BUSHMAN-chr1-245672898 4.00e-01 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 230995525 56188865 pilot_1_CEU_600154_chr1_245672899 4.00e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 238590482 56188865 pilot_1_CHB+JPT_475559_chr1_245672899 4.00e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 253949110 56188865 SNP242704_1_245672899 4.00e-01 2010.08.19 2010.08.19 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 276310591 56188865 GMI_AK_SNP_630758 4.00e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 PJP 114548 NC_000001.10:g.247606276T>C;NG_007509.2:g.31802T>C;NM_001079821.2:c.2670-998T>C;NM_001127461.2:c.2499-998T>C;NM_001127462.2:c.2499-998T>C;NM_001243133.1:c.2664-998T>C;NM_004895.4:c.2670-998T>C;NM_183395.2:c.2328-998T>C 290789466 56188865 SNP_295824_chr1_245672899 4.00e-01 2011.01.21 2011.01.21 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247606616C>T;NG_007509.2:g.32142C>T;NM_001079821.2:c.2670-658C>T;NM_001127461.2:c.2499-658C>T;NM_001127462.2:c.2499-658C>T;NM_001243133.1:c.2664-658C>T;NM_004895.4:c.2670-658C>T;NM_183395.2:c.2328-658C>T 199904073 111869905 BUSHMAN-chr1-245673238 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247606654C>T;NG_007509.2:g.32180C>T;NM_001079821.2:c.2670-620C>T;NM_001127461.2:c.2499-620C>T;NM_001127462.2:c.2499-620C>T;NM_001243133.1:c.2664-620C>T;NM_004895.4:c.2670-620C>T;NM_183395.2:c.2328-620C>T 329363881 139341402 20100804_snps_1007417_chr1_247606654 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247606697G>C;NG_007509.2:g.32223G>C;NM_001079821.2:c.2670-577G>C;NM_001127461.2:c.2499-577G>C;NM_001127462.2:c.2499-577G>C;NM_001243133.1:c.2664-577G>C;NM_004895.4:c.2670-577G>C;NM_183395.2:c.2328-577G>C 329363882 143263775 20100804_snps_1007418_chr1_247606697 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247606711G>A;NG_007509.2:g.32237G>A;NM_001079821.2:c.2670-563G>A;NM_001127461.2:c.2499-563G>A;NM_001127462.2:c.2499-563G>A;NM_001243133.1:c.2664-563G>A;NM_004895.4:c.2670-563G>A;NM_183395.2:c.2328-563G>A 219005734 116793821 pilot_1_YRI_815417_chr1_245673334 2.56e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 6810152 4925661 NT_031730.6_394959 4.51e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 88051313 4925661 JWB-0217812 4.51e-01 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 102842956 4925661 BGI_rs4925661 4.51e-01 2008.06.04 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 109136622 4925661 CEU.trio.12.15.2008_293455_chr1_245673362 4.51e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 119287800 4925661 NA18507_000265629_NCBI36.1_chr1_245673362 4.51e-01 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 138194284 4925661 ENSSNP11747586 4.51e-01 2009.05.17 2009.05.17 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 143343662 4925661 ENSSNP4081884 4.51e-01 2009.06.06 2009.10.19 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 210793818 4925661 YRI.trio.3.2010_117445_chr1_245673362 4.51e-01 2010.03.29 2010.03.29 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 219005735 4925661 pilot_1_YRI_815418_chr1_245673362 4.51e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 230995526 4925661 pilot_1_CEU_600155_chr1_245673362 4.51e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 238590483 4925661 pilot_1_CHB+JPT_475560_chr1_245673362 4.51e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247606739G>A;NG_007509.2:g.32265G>A;NM_001079821.2:c.2670-535G>A;NM_001127461.2:c.2499-535G>A;NM_001127462.2:c.2499-535G>A;NM_001243133.1:c.2664-535G>A;NM_004895.4:c.2670-535G>A;NM_183395.2:c.2328-535G>A 276310592 4925661 GMI_AK_SNP_630759 4.51e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 WI_SSAHASNP 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 6810153 4925662 NT_031730.6_394961 4.17e-02 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 19121586 4925662 CSHL-HuDD-200402.chr1.NT_004836.15_12270105 4.17e-02 2004.02.20 2004.03.04 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 23207076 4925662 afd4542937 4.17e-02 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 41147272 4925662 hCV30713888 4.17e-02 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HGSV 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 82168891 4925662 Cor19240_SNV_20070510.chr1_243932782 4.17e-02 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 88051315 4925662 JWB-0217813 4.17e-02 2008.02.27 2008.02.27 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 98020157 4925662 1103675395162 4.17e-02 2008.03.30 2008.03.30 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 106647992 4925662 BGI_rs4925662 4.17e-02 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 109136626 4925662 CEU.trio.12.15.2008_293456_chr1_245673364 4.17e-02 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 112114673 4925662 NA19240_2008_12_16_266148_chr1_245673364 4.17e-02 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 119287801 4925662 NA18507_000265630_NCBI36.1_chr1_245673364 4.17e-02 2009.01.22 2009.01.22 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 138194285 4925662 ENSSNP7146171 4.17e-02 2009.05.17 2009.05.17 2003.02.20 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 143649000 4925662 ENSSNP197720 4.17e-02 2009.06.06 2009.10.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 156564098 4925662 GMI_SNP_217574836 4.17e-02 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 165636653 4925662 NA19240_36_chr1_245673364 4.17e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 199904077 4925662 BUSHMAN-chr1-245673363 4.17e-02 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 219005736 4925662 pilot_1_YRI_815419_chr1_245673364 4.17e-02 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 230995527 4925662 pilot_1_CEU_600156_chr1_245673364 4.17e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 238590484 4925662 pilot_1_CHB+JPT_475561_chr1_245673364 4.17e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 253949113 4925662 SNP242705_1_245673364 4.17e-02 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 276310593 4925662 GMI_AK_SNP_630760 4.17e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247606741C>A;NG_007509.2:g.32267C>A;NM_001079821.2:c.2670-533C>A;NM_001127461.2:c.2499-533C>A;NM_001127462.2:c.2499-533C>A;NM_001243133.1:c.2664-533C>A;NM_004895.4:c.2670-533C>A;NM_183395.2:c.2328-533C>A 290789467 4925662 SNP_295825_chr1_245673364 4.17e-02 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606776G>A;NG_007509.2:g.32302G>A;NM_001079821.2:c.2670-498G>A;NM_001127461.2:c.2499-498G>A;NM_001127462.2:c.2499-498G>A;NM_001243133.1:c.2664-498G>A;NM_004895.4:c.2670-498G>A;NM_183395.2:c.2328-498G>A 329363883 144773056 20100804_snps_1007419_chr1_247606776 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 114548 NC_000001.10:g.247606785_247606786insG;NG_007509.2:g.32311_32312insG;NM_001079821.2:c.2670-489_2670-488insG;NM_001127461.2:c.2499-489_2499-488insG;NM_001127462.2:c.2499-489_2499-488insG;NM_001243133.1:c.2664-489_2664-488insG;NM_004895.4:c.2670-489_2670-488insG;NM_183395.2:c.2328-489_2328-488insG 41136719 35128816 hCV32484956 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247606823C>T;NG_007509.2:g.32349C>T;NM_001079821.2:c.2670-451C>T;NM_001127461.2:c.2499-451C>T;NM_001127462.2:c.2499-451C>T;NM_001243133.1:c.2664-451C>T;NM_004895.4:c.2670-451C>T;NM_183395.2:c.2328-451C>T 219005737 115526037 pilot_1_YRI_815420_chr1_245673446 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247606863delA;NG_007509.2:g.32389delA;NM_001079821.2:c.2670-411delA;NM_001127461.2:c.2499-411delA;NM_001127462.2:c.2499-411delA;NM_001243133.1:c.2664-411delA;NM_004895.4:c.2670-411delA;NM_183395.2:c.2328-411delA 103502446 75792988 JWB-4013140 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247606877_247606878delAG;NG_007509.2:g.32403_32404delAG;NM_001079821.2:c.2670-397_2670-396delAG;NM_001127461.2:c.2499-397_2499-396delAG;NM_001127462.2:c.2499-397_2499-396delAG;NM_001243133.1:c.2664-397_2664-396delAG;NM_004895.4:c.2670-397_2670-396delAG;NM_183395.2:c.2328-397_2328-396delAG 499190914 200446262 20110316_indels_chr1_247606876_247606877 3.53e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 81726373 60823583 Cor18555_DIV_20070510.chr1_243932919-243932921_1 3.58e-01 2007.12.01 2007.12.01 2007.12.16 2012.11.28 137 HGSV 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 82694599 60823583 Cor19240_DIV_20070510.chr1_243932919-243932921_1 3.58e-01 2007.12.03 2007.12.03 2007.12.16 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 95261592 60823583 1104685304940 3.58e-01 2008.03.21 2008.12.02 2007.12.16 2012.11.28 137 GMI 114548 NC_000001.10:g.247606878G>A;NG_007509.2:g.32404G>A;NM_001079821.2:c.2670-396G>A;NM_001127461.2:c.2499-396G>A;NM_001127462.2:c.2499-396G>A;NM_001243133.1:c.2664-396G>A;NM_004895.4:c.2670-396G>A;NM_183395.2:c.2328-396G>A 156564104 77331373 GMI_SNP_118266575 variation has been flagged as failed by submitter 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247606878G>A;NG_007509.2:g.32404G>A;NM_001079821.2:c.2670-396G>A;NM_001127461.2:c.2499-396G>A;NM_001127462.2:c.2499-396G>A;NM_001243133.1:c.2664-396G>A;NM_004895.4:c.2670-396G>A;NM_183395.2:c.2328-396G>A 199904081 77331373 BUSHMAN-chr1-245673500 variation has been flagged as failed by submitter 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 GMI 114548 NC_000001.10:g.247606878G>A;NG_007509.2:g.32404G>A;NM_001079821.2:c.2670-396G>A;NM_001127461.2:c.2499-396G>A;NM_001127462.2:c.2499-396G>A;NM_001243133.1:c.2664-396G>A;NM_004895.4:c.2670-396G>A;NM_183395.2:c.2328-396G>A 276310594 77331373 GMI_AK_SNP_630761 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 PJP 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 294636728 60823583 DIP_74432_chr1_245673501 3.58e-01 2011.01.21 2011.01.21 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 326158631 60823583 JPTCHB_chr1_245673500_indel 3.58e-01 2011.03.11 2011.04.02 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 326164567 60823583 CEU_chr1_245673500_indel 3.58e-01 2011.03.11 2011.04.01 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 326215356 60823583 YRI_chr1_245673500_indel 3.58e-01 2011.03.11 2011.04.02 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247606878delG;NG_007509.2:g.32404delG;NM_001079821.2:c.2670-396delG;NM_001127461.2:c.2499-396delG;NM_001127462.2:c.2499-396delG;NM_001243133.1:c.2664-396delG;NM_004895.4:c.2670-396delG;NM_183395.2:c.2328-396delG 499190918 60823583 20110316_indels_chr1_247606877_247606877 3.58e-01 2012.03.19 2012.03.19 2007.12.16 2012.11.28 137 HGSV 114548 NC_000001.10:g.247606954G>A;NG_007509.2:g.32480G>A;NM_001079821.2:c.2670-320G>A;NM_001127461.2:c.2499-320G>A;NM_001127462.2:c.2499-320G>A;NM_001243133.1:c.2664-320G>A;NM_004895.4:c.2670-320G>A;NM_183395.2:c.2328-320G>A 77119949 55731606 Cor12156_SNV_20070510.chr1_243932995 2007.10.09 2007.10.11 2007.12.06 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247606997_247606999delGAG;NG_007509.2:g.32523_32525delGAG;NM_001079821.2:c.2670-277_2670-275delGAG;NM_001127461.2:c.2499-277_2499-275delGAG;NM_001127462.2:c.2499-277_2499-275delGAG;NM_001243133.1:c.2664-277_2664-275delGAG;NM_004895.4:c.2670-277_2670-275delGAG;NM_183395.2:c.2328-277_2328-275delGAG 499190922 200066261 20110316_indels_chr1_247606996_247606998 1.14e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 77200674 56083970 Cor12156_SNV_20070510.chr1_243933071 1.71e-01 2007.10.09 2007.10.11 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 112114682 56083970 NA19240_2008_12_16_266149_chr1_245673653 1.71e-01 2008.12.17 2008.12.17 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 165636662 56083970 NA19240_36_chr1_245673653 1.71e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 199904085 56083970 BUSHMAN-chr1-245673652 1.71e-01 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 219005738 56083970 pilot_1_YRI_815421_chr1_245673653 1.71e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 230995529 56083970 pilot_1_CEU_600158_chr1_245673653 1.71e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 238590485 56083970 pilot_1_CHB+JPT_475562_chr1_245673653 1.71e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 253949116 56083970 SNP242706_1_245673653 1.71e-01 2010.08.19 2010.08.19 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247607030G>C;NG_007509.2:g.32556G>C;NM_001079821.2:c.2670-244G>C;NM_001127461.2:c.2499-244G>C;NM_001127462.2:c.2499-244G>C;NM_001243133.1:c.2664-244G>C;NM_004895.4:c.2670-244G>C;NM_183395.2:c.2328-244G>C 276310595 56083970 GMI_AK_SNP_630762 1.71e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 WUGSC_SSAHASNP 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 14020317 10159239 chr1.NT_004836.15_12270416 4.17e-01 2003.11.05 2006.10.25 2003.12.05 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 20575476 10159239 WGSA-200403-chr1.chr1.NT_004836.15_12270416 4.17e-01 2004.03.18 2004.03.18 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 66873307 10159239 HumanHap550v1.1_rs10159239 4.17e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 66953703 10159239 HumanHap650Yv1.0_rs10159239 4.17e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 68079801 10159239 HumanHap250Sv1.0_rs10159239 4.17e-01 2006.12.06 2006.12.07 2003.12.05 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 68800574 10159239 PGP05962423 4.17e-01 2007.01.30 2008.03.31 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 70468828 10159239 HumanHap550v3.0__rs10159239 4.17e-01 2007.04.20 2008.03.29 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 70990358 10159239 HumanHap650Yv3.0_rs10159239 4.17e-01 2007.04.23 2007.04.23 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 74942979 10159239 ILMN_Human_1M_rs10159239 4.17e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 HGSV 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 77197298 10159239 Cor12156_SNV_20070510.chr1_243933093 4.17e-01 2007.10.09 2007.10.11 2003.12.05 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 84914686 10159239 KHS846949 4.17e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 99306028 10159239 1103675395163 4.17e-01 2008.04.03 2010.03.07 2003.12.05 2012.11.28 137 BGI 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 106647993 10159239 BGI_rs10159239 4.17e-01 2008.09.17 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 109136631 10159239 CEU.trio.12.15.2008_293457_chr1_245673675 4.17e-01 2008.12.16 2008.12.16 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 112114687 10159239 NA19240_2008_12_16_266150_chr1_245673675 4.17e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 152588317 10159239 Human610_Quadv1_B_rs10159239-128_B_R_1502067618 4.17e-01 2009.06.18 2009.06.19 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 156564111 10159239 GMI_SNP_117624684 4.17e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 159112859 10159239 Human660W-Quad_v1_A_rs10159239-128_B_R_1502067618 4.17e-01 2009.07.06 2009.07.06 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 159871540 10159239 HumanOmni1-Quad_v1-0_B_rs10159239-128_B_R_1502067618 4.17e-01 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 165636669 10159239 NA19240_36_chr1_245673675 4.17e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 167597264 10159239 NA20431_36_chr1_245673675 4.17e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 169771977 10159239 Human1M-Duov3_B_rs10159239-128_B_R_1502067618 4.17e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 199904089 10159239 BUSHMAN-chr1-245673674 4.17e-01 2010.03.07 2010.03.07 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 205086290 10159239 BCM_CMT_1011-23760 4.17e-01 2010.03.15 2010.03.15 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 219005739 10159239 pilot_1_YRI_815422_chr1_245673675 4.17e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 230995530 10159239 pilot_1_CEU_600159_chr1_245673675 4.17e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 238590486 10159239 pilot_1_CHB+JPT_475563_chr1_245673675 4.17e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 244268099 10159239 CVDSNP55v1_A_rs10159239 4.17e-01 2010.06.10 2010.06.10 2003.12.05 2012.11.28 137 BL 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 253949119 10159239 SNP242707_1_245673675 4.17e-01 2010.08.19 2010.08.19 2003.12.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 276310596 10159239 GMI_AK_SNP_630763 4.17e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 290789468 10159239 SNP_295826_chr1_245673675 4.17e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 479207664 10159239 HumanOmni2.5-4v1_B_rs10159239-128_B_R_1690702628 4.17e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 479210191 10159239 HumanOmniExpress-12v1_C_rs10159239-131_B_R_1857030104 4.17e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 479552359 10159239 HumanOmni1-Quad_v1-0_C_rs10159239-131_B_R_1865430953 4.17e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607052G>A;NG_007509.2:g.32578G>A;NM_001079821.2:c.2670-222G>A;NM_001127461.2:c.2499-222G>A;NM_001127462.2:c.2499-222G>A;NM_001243133.1:c.2664-222G>A;NM_004895.4:c.2670-222G>A;NM_183395.2:c.2328-222G>A 484404776 10159239 HumanOmni2.5-4v1_D_rs10159239-131_B_R_1857030104 4.17e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607068G>A;NG_007509.2:g.32594G>A;NM_001079821.2:c.2670-206G>A;NM_001127461.2:c.2499-206G>A;NM_001127462.2:c.2499-206G>A;NM_001243133.1:c.2664-206G>A;NM_004895.4:c.2670-206G>A;NM_183395.2:c.2328-206G>A 329363884 148437545 20100804_snps_1007420_chr1_247607068 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247607102C>T;NG_007509.2:g.32628C>T;NM_001079821.2:c.2670-172C>T;NM_001127461.2:c.2499-172C>T;NM_001127462.2:c.2499-172C>T;NM_001243133.1:c.2664-172C>T;NM_004895.4:c.2670-172C>T;NM_183395.2:c.2328-172C>T 454808202 183522026 20101123_snps_975432_chr1_247607102 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 114548 NC_000001.10:g.247607148G>T;NG_007509.2:g.32674G>T;NM_001079821.2:c.2670-126G>T;NM_001127461.2:c.2499-126G>T;NM_001127462.2:c.2499-126G>T;NM_001243133.1:c.2664-126G>T;NM_004895.4:c.2670-126G>T;NM_183395.2:c.2328-126G>T 80243886 60790382 Cor18507_SNV_20070510.chr1_243933189 2.34e-02 2007.11.25 2007.11.25 2007.12.16 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247607148G>T;NG_007509.2:g.32674G>T;NM_001079821.2:c.2670-126G>T;NM_001127461.2:c.2499-126G>T;NM_001127462.2:c.2499-126G>T;NM_001243133.1:c.2664-126G>T;NM_004895.4:c.2670-126G>T;NM_183395.2:c.2328-126G>T 119287802 60790382 NA18507_000265631_NCBI36.1_chr1_245673771 2.34e-02 2009.01.22 2009.01.22 2007.12.16 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247607148G>T;NG_007509.2:g.32674G>T;NM_001079821.2:c.2670-126G>T;NM_001127461.2:c.2499-126G>T;NM_001127462.2:c.2499-126G>T;NM_001243133.1:c.2664-126G>T;NM_004895.4:c.2670-126G>T;NM_183395.2:c.2328-126G>T 199904093 60790382 BUSHMAN-chr1-245673770 2.34e-02 2010.03.07 2010.03.07 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607148G>T;NG_007509.2:g.32674G>T;NM_001079821.2:c.2670-126G>T;NM_001127461.2:c.2499-126G>T;NM_001127462.2:c.2499-126G>T;NM_001243133.1:c.2664-126G>T;NM_004895.4:c.2670-126G>T;NM_183395.2:c.2328-126G>T 219005740 60790382 pilot_1_YRI_815423_chr1_245673771 2.34e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 HGSV 114548 NC_000001.10:g.247607184C>A;NG_007509.2:g.32710C>A;NM_001079821.2:c.2670-90C>A;NM_001127461.2:c.2499-90C>A;NM_001127462.2:c.2499-90C>A;NM_001243133.1:c.2664-90C>A;NM_004895.4:c.2670-90C>A;NM_183395.2:c.2328-90C>A 80841587 59529009 Cor18507_SNV_20070510.chr1_243933225 2007.11.26 2007.11.26 2007.12.15 2011.07.08 137 BUSHMAN 114548 NC_000001.10:g.247607195C>T;NG_007509.2:g.32721C>T;NM_001079821.2:c.2670-79C>T;NM_001127461.2:c.2499-79C>T;NM_001127462.2:c.2499-79C>T;NM_001243133.1:c.2664-79C>T;NM_004895.4:c.2670-79C>T;NM_183395.2:c.2328-79C>T 199904097 112535378 BUSHMAN-chr1-245673817 1.79e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607195C>T;NG_007509.2:g.32721C>T;NM_001079821.2:c.2670-79C>T;NM_001127461.2:c.2499-79C>T;NM_001127462.2:c.2499-79C>T;NM_001243133.1:c.2664-79C>T;NM_004895.4:c.2670-79C>T;NM_183395.2:c.2328-79C>T 219005741 112535378 pilot_1_YRI_815424_chr1_245673818 1.79e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607234C>T;NG_007509.2:g.32760C>T;NM_001079821.2:c.2670-40C>T;NM_001127461.2:c.2499-40C>T;NM_001127462.2:c.2499-40C>T;NM_001243133.1:c.2664-40C>T;NM_004895.4:c.2670-40C>T;NM_183395.2:c.2328-40C>T 454808203 189566611 20101123_snps_975433_chr1_247607234 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607234C>T;NG_007509.2:g.32760C>T;NM_001079821.2:c.2670-40C>T;NM_001127461.2:c.2499-40C>T;NM_001127462.2:c.2499-40C>T;NM_001243133.1:c.2664-40C>T;NM_004895.4:c.2670-40C>T;NM_183395.2:c.2328-40C>T 489800536 189566611 20110521_exome_333991_chr1_247607234 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607278G>T;NG_007509.2:g.32804G>T;NM_001079821.2:c.2674G>T;NM_001127461.2:c.2503G>T;NM_001127462.2:c.2503G>T;NM_001243133.1:c.2668G>T;NM_004895.4:c.2674G>T;NM_183395.2:c.2332G>T;NP_001073289.1:p.Val892Leu;NP_001120933.1:p.Val835Leu;NP_001120934.1:p.Val835Leu;NP_001230062.1:p.Val890Leu;NP_004886.3:p.Val892Leu;NP_899632.1:p.Val778Leu 454808204 193085132 20101123_snps_975434_chr1_247607278 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607278G>T;NG_007509.2:g.32804G>T;NM_001079821.2:c.2674G>T;NM_001127461.2:c.2503G>T;NM_001127462.2:c.2503G>T;NM_001243133.1:c.2668G>T;NM_004895.4:c.2674G>T;NM_183395.2:c.2332G>T;NP_001073289.1:p.Val892Leu;NP_001120933.1:p.Val835Leu;NP_001120934.1:p.Val835Leu;NP_001230062.1:p.Val890Leu;NP_004886.3:p.Val892Leu;NP_899632.1:p.Val778Leu 489800538 193085132 20110521_exome_333992_chr1_247607278 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247607296T>C;NG_007509.2:g.32822T>C;NM_001079821.2:c.2692T>C;NM_001127461.2:c.2521T>C;NM_001127462.2:c.2521T>C;NM_001243133.1:c.2686T>C;NM_004895.4:c.2692T>C;NM_183395.2:c.2350T>C;NP_001073289.1:p.Ser898Pro;NP_001120933.1:p.Ser841Pro;NP_001120934.1:p.Ser841Pro;NP_001230062.1:p.Ser896Pro;NP_004886.3:p.Ser898Pro;NP_899632.1:p.Ser784Pro 342040949 151205016 ESP2500-chr1-247607296 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607296T>C;NG_007509.2:g.32822T>C;NM_001079821.2:c.2692T>C;NM_001127461.2:c.2521T>C;NM_001127462.2:c.2521T>C;NM_001243133.1:c.2686T>C;NM_004895.4:c.2692T>C;NM_183395.2:c.2350T>C;NP_001073289.1:p.Ser898Pro;NP_001120933.1:p.Ser841Pro;NP_001120934.1:p.Ser841Pro;NP_001230062.1:p.Ser896Pro;NP_004886.3:p.Ser898Pro;NP_899632.1:p.Ser784Pro 488705583 151205016 20110521_exome_29268_chr1_247607296 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607296T>C;NG_007509.2:g.32822T>C;NM_001079821.2:c.2692T>C;NM_001127461.2:c.2521T>C;NM_001127462.2:c.2521T>C;NM_001243133.1:c.2686T>C;NM_004895.4:c.2692T>C;NM_183395.2:c.2350T>C;NP_001073289.1:p.Ser898Pro;NP_001120933.1:p.Ser841Pro;NP_001120934.1:p.Ser841Pro;NP_001230062.1:p.Ser896Pro;NP_004886.3:p.Ser898Pro;NP_899632.1:p.Ser784Pro 491238267 151205016 chr1_245673919 5.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247607296T>C;NG_007509.2:g.32822T>C;NM_001079821.2:c.2692T>C;NM_001127461.2:c.2521T>C;NM_001127462.2:c.2521T>C;NM_001243133.1:c.2686T>C;NM_004895.4:c.2692T>C;NM_183395.2:c.2350T>C;NP_001073289.1:p.Ser898Pro;NP_001120933.1:p.Ser841Pro;NP_001120934.1:p.Ser841Pro;NP_001230062.1:p.Ser896Pro;NP_004886.3:p.Ser898Pro;NP_899632.1:p.Ser784Pro 491313842 151205016 nonsyn_30069_chr_1_247607296 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247607309C>T;NG_007509.2:g.32835C>T;NM_001079821.2:c.2705C>T;NM_001127461.2:c.2534C>T;NM_001127462.2:c.2534C>T;NM_001243133.1:c.2699C>T;NM_004895.4:c.2705C>T;NM_183395.2:c.2363C>T;NP_001073289.1:p.Ser902Leu;NP_001120933.1:p.Ser845Leu;NP_001120934.1:p.Ser845Leu;NP_001230062.1:p.Ser900Leu;NP_004886.3:p.Ser902Leu;NP_899632.1:p.Ser788Leu 342040951 150388694 ESP2500-chr1-247607309 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 114548 NC_000001.10:g.247607313T>G;NG_007509.2:g.32839T>G;NM_001079821.2:c.2709T>G;NM_001127461.2:c.2538T>G;NM_001127462.2:c.2538T>G;NM_001243133.1:c.2703T>G;NM_004895.4:c.2709T>G;NM_183395.2:c.2367T>G;NP_001073289.1:p.Ala903=;NP_001120933.1:p.Ala846=;NP_001120934.1:p.Ala846=;NP_001230062.1:p.Ala901=;NP_004886.3:p.Ala903=;NP_899632.1:p.Ala789= 342040952 138089800 ESP2500-chr1-247607313 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607313T>G;NG_007509.2:g.32839T>G;NM_001079821.2:c.2709T>G;NM_001127461.2:c.2538T>G;NM_001127462.2:c.2538T>G;NM_001243133.1:c.2703T>G;NM_004895.4:c.2709T>G;NM_183395.2:c.2367T>G;NP_001073289.1:p.Ala903=;NP_001120933.1:p.Ala846=;NP_001120934.1:p.Ala846=;NP_001230062.1:p.Ala901=;NP_004886.3:p.Ala903=;NP_899632.1:p.Ala789= 491238268 138089800 chr1_245673936 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247607319C>G;NG_007509.2:g.32845C>G;NM_001079821.2:c.2715C>G;NM_001127461.2:c.2544C>G;NM_001127462.2:c.2544C>G;NM_001243133.1:c.2709C>G;NM_004895.4:c.2715C>G;NM_183395.2:c.2373C>G;NP_001073289.1:p.Ser905=;NP_001120933.1:p.Ser848=;NP_001120934.1:p.Ser848=;NP_001230062.1:p.Ser903=;NP_004886.3:p.Ser905=;NP_899632.1:p.Ser791= 342040954 145787821 ESP2500-chr1-247607319 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GSK-GENETICS 114548 NC_000001.10:g.247607321C>T;NG_007509.2:g.32847C>T;NM_001079821.2:c.2717C>T;NM_001127461.2:c.2546C>T;NM_001127462.2:c.2546C>T;NM_001243133.1:c.2711C>T;NM_004895.4:c.2717C>T;NM_183395.2:c.2375C>T;NP_001073289.1:p.Ser906Leu;NP_001120933.1:p.Ser849Leu;NP_001120934.1:p.Ser849Leu;NP_001230062.1:p.Ser904Leu;NP_004886.3:p.Ser906Leu;NP_899632.1:p.Ser792Leu 491238269 200590698 chr1_245673944 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607349G>C;NG_007509.2:g.32875G>C;NM_001079821.2:c.2745G>C;NM_001127461.2:c.2574G>C;NM_001127462.2:c.2574G>C;NM_001243133.1:c.2739G>C;NM_004895.4:c.2745G>C;NM_183395.2:c.2403G>C;NP_001073289.1:p.Thr915=;NP_001120933.1:p.Thr858=;NP_001120934.1:p.Thr858=;NP_001230062.1:p.Thr913=;NP_004886.3:p.Thr915=;NP_899632.1:p.Thr801= 491238270 201764635 chr1_245673972 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607371A>G;NG_007509.2:g.32897A>G;NM_001079821.2:c.2767A>G;NM_001127461.2:c.2596A>G;NM_001127462.2:c.2596A>G;NM_001243133.1:c.2761A>G;NM_004895.4:c.2767A>G;NM_183395.2:c.2425A>G;NP_001073289.1:p.Thr923Ala;NP_001120933.1:p.Thr866Ala;NP_001120934.1:p.Thr866Ala;NP_001230062.1:p.Thr921Ala;NP_004886.3:p.Thr923Ala;NP_899632.1:p.Thr809Ala 491238271 200089542 chr1_245673994 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607376C>T;NG_007509.2:g.32902C>T;NM_001079821.2:c.2772C>T;NM_001127461.2:c.2601C>T;NM_001127462.2:c.2601C>T;NM_001243133.1:c.2766C>T;NM_004895.4:c.2772C>T;NM_183395.2:c.2430C>T;NP_001073289.1:p.Leu924=;NP_001120933.1:p.Leu867=;NP_001120934.1:p.Leu867=;NP_001230062.1:p.Leu922=;NP_004886.3:p.Leu924=;NP_899632.1:p.Leu810= 491238272 200905637 chr1_245673999 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607393A>G;NG_007509.2:g.32919A>G;NM_001079821.2:c.2789A>G;NM_001127461.2:c.2618A>G;NM_001127462.2:c.2618A>G;NM_001243133.1:c.2783A>G;NM_004895.4:c.2789A>G;NM_183395.2:c.2447A>G;NP_001073289.1:p.Lys930Arg;NP_001120933.1:p.Lys873Arg;NP_001120934.1:p.Lys873Arg;NP_001230062.1:p.Lys928Arg;NP_004886.3:p.Lys930Arg;NP_899632.1:p.Lys816Arg 491238273 201868242 chr1_245674016 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607397A>G;NG_007509.2:g.32923A>G;NM_001079821.2:c.2793A>G;NM_001127461.2:c.2622A>G;NM_001127462.2:c.2622A>G;NM_001243133.1:c.2787A>G;NM_004895.4:c.2793A>G;NM_183395.2:c.2451A>G;NP_001073289.1:p.Leu931=;NP_001120933.1:p.Leu874=;NP_001120934.1:p.Leu874=;NP_001230062.1:p.Leu929=;NP_004886.3:p.Leu931=;NP_899632.1:p.Leu817= 491238274 199964898 chr1_245674020 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607422G>A;NG_007509.2:g.32948G>A;NM_001079821.2:c.2818G>A;NM_001127461.2:c.2647G>A;NM_001127462.2:c.2647G>A;NM_001243133.1:c.2812G>A;NM_004895.4:c.2818G>A;NM_183395.2:c.2476G>A;NP_001073289.1:p.Asp940Asn;NP_001120933.1:p.Asp883Asn;NP_001120934.1:p.Asp883Asn;NP_001230062.1:p.Asp938Asn;NP_004886.3:p.Asp940Asn;NP_899632.1:p.Asp826Asn 491238275 201260331 chr1_245674045 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607429A>G;NG_007509.2:g.32955A>G;NM_001079821.2:c.2825A>G;NM_001127461.2:c.2654A>G;NM_001127462.2:c.2654A>G;NM_001243133.1:c.2819A>G;NM_004895.4:c.2825A>G;NM_183395.2:c.2483A>G;NP_001073289.1:p.Lys942Arg;NP_001120933.1:p.Lys885Arg;NP_001120934.1:p.Lys885Arg;NP_001230062.1:p.Lys940Arg;NP_004886.3:p.Lys942Arg;NP_899632.1:p.Lys828Arg 491238276 201580005 chr1_245674052 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607437G>C;NG_007509.2:g.32963G>C;NM_001079821.2:c.2833G>C;NM_001127461.2:c.2662G>C;NM_001127462.2:c.2662G>C;NM_001243133.1:c.2827G>C;NM_004895.4:c.2833G>C;NM_183395.2:c.2491G>C;NP_001073289.1:p.Val945Leu;NP_001120933.1:p.Val888Leu;NP_001120934.1:p.Val888Leu;NP_001230062.1:p.Val943Leu;NP_004886.3:p.Val945Leu;NP_899632.1:p.Val831Leu 491238277 199878892 chr1_245674060 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607444A>G;NG_007509.2:g.32970A>G;NM_001079821.2:c.2840A>G;NM_001127461.2:c.2669A>G;NM_001127462.2:c.2669A>G;NM_001243133.1:c.2834A>G;NM_004895.4:c.2840A>G;NM_183395.2:c.2498A>G;NP_001073289.1:p.Glu947Gly;NP_001120933.1:p.Glu890Gly;NP_001120934.1:p.Glu890Gly;NP_001230062.1:p.Glu945Gly;NP_004886.3:p.Glu947Gly;NP_899632.1:p.Glu833Gly 491238278 200794776 chr1_245674067 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GEH 114548 NM_001079821.2:c.2840+12G>C NC_000001.10:g.247607456G>C;NG_007509.2:g.32982G>C;NM_001079821.2:c.2840+12G>C;NM_001127461.2:c.2669+12G>C;NM_001127462.2:c.2669+12G>C;NM_001243133.1:c.2834+12G>C;NM_004895.4:c.2840+12G>C;NM_183395.2:c.2498+12G>C 506396371 199475736 NLRP3:25360 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247607458T>A;NG_007509.2:g.32984T>A;NM_001079821.2:c.2840+14T>A;NM_001127461.2:c.2669+14T>A;NM_001127462.2:c.2669+14T>A;NM_001243133.1:c.2834+14T>A;NM_004895.4:c.2840+14T>A;NM_183395.2:c.2498+14T>A 491238279 201791809 chr1_245674081 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247607492G>A;NG_007509.2:g.33018G>A;NM_001079821.2:c.2840+48G>A;NM_001127461.2:c.2669+48G>A;NM_001127462.2:c.2669+48G>A;NM_001243133.1:c.2834+48G>A;NM_004895.4:c.2840+48G>A;NM_183395.2:c.2498+48G>A 329363885 141689621 20100804_snps_1007421_chr1_247607492 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607492G>A;NG_007509.2:g.33018G>A;NM_001079821.2:c.2840+48G>A;NM_001127461.2:c.2669+48G>A;NM_001127462.2:c.2669+48G>A;NM_001243133.1:c.2834+48G>A;NM_004895.4:c.2840+48G>A;NM_183395.2:c.2498+48G>A 489800540 141689621 20110521_exome_333993_chr1_247607492 9.00e-04 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607492G>A;NG_007509.2:g.33018G>A;NM_001079821.2:c.2840+48G>A;NM_001127461.2:c.2669+48G>A;NM_001127462.2:c.2669+48G>A;NM_001243133.1:c.2834+48G>A;NM_004895.4:c.2840+48G>A;NM_183395.2:c.2498+48G>A 491238280 141689621 chr1_245674115 9.00e-04 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 18269610 12130711 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12271006 3.45e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 43835573 12130711 hCV26052034 3.45e-01 2005.07.18 2006.11.03 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 66984299 12130711 HumanHap550v1.1_rs12130711 3.45e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 67158173 12130711 HumanHap650Yv1.0_rs12130711 3.45e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 68122037 12130711 HumanHap250Sv1.0_rs12130711 3.45e-01 2006.12.06 2006.12.07 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 70556672 12130711 HumanHap550v3.0__rs12130711 3.45e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 71094079 12130711 HumanHap650Yv3.0_rs12130711 3.45e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 74959574 12130711 ILMN_Human_1M_rs12130711 3.45e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 76563355 12130711 AFFY_6_1M_SNP_A-8424509 3.45e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 78450359 12130711 Cor12878_SNV_20070510.chr1_243933683 3.45e-01 2007.10.19 2007.10.19 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 83436306 12130711 Cor18555_SNV_20070510.chr1_243933683 3.45e-01 2007.12.05 2007.12.05 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 85187011 12130711 KHS922260 3.45e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 88051317 12130711 JWB-0217814 3.45e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 99306029 12130711 1103675395164 3.45e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 112114698 12130711 NA19240_2008_12_16_266151_chr1_245674265 3.45e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 119287804 12130711 NA18507_000265632_NCBI36.1_chr1_245674265 3.45e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 138194286 12130711 ENSSNP11747588 3.45e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 138997899 12130711 ENSSNP197721 3.45e-01 2009.05.18 2009.10.16 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 153137736 12130711 Human610_Quadv1_B_rs12130711-128_B_F_1502103912 3.45e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 156564118 12130711 GMI_SNP_37826792 3.45e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 159204915 12130711 Human660W-Quad_v1_A_rs12130711-128_B_F_1502103912 3.45e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 160035964 12130711 HumanOmni1-Quad_v1-0_B_rs12130711-128_B_F_1502103912 3.45e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 165636678 12130711 NA19240_36_chr1_245674265 3.45e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 165962026 12130711 NA07022_36_chr1_245674265 3.45e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 167597266 12130711 NA20431_36_chr1_245674265 3.45e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 171880670 12130711 Human1M-Duov3_B_rs12130711-128_B_F_1502103912 3.45e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 199904101 12130711 BUSHMAN-chr1-245674264 3.45e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 210480738 12130711 CEU.trio.3.2010_12874_chr1_245674265 3.45e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 219005742 12130711 pilot_1_YRI_815425_chr1_245674265 3.45e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 230995531 12130711 pilot_1_CEU_600160_chr1_245674265 3.45e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 238590487 12130711 pilot_1_CHB+JPT_475564_chr1_245674265 3.45e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 276310597 12130711 GMI_AK_SNP_630764 3.45e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 290789469 12130711 SNP_295827_chr1_245674265 3.45e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 479678566 12130711 HumanOmni2.5-4v1_B_rs12130711-128_B_F_1765349689 3.45e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 479684013 12130711 HumanOmniExpress-12v1_C_rs12130711-131_B_F_1857381737 3.45e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 480209555 12130711 HumanOmni1-Quad_v1-0_C_rs12130711-131_B_F_1865299974 3.45e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247607642C>T;NG_007509.2:g.33168C>T;NM_001079821.2:c.2840+198C>T;NM_001127461.2:c.2669+198C>T;NM_001127462.2:c.2669+198C>T;NM_001243133.1:c.2834+198C>T;NM_004895.4:c.2840+198C>T;NM_183395.2:c.2498+198C>T 484637823 12130711 HumanOmni2.5-4v1_D_rs12130711-131_B_F_1857381737 3.45e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607768A>G;NG_007509.2:g.33294A>G;NM_001079821.2:c.2841-185A>G;NM_001127461.2:c.2670-185A>G;NM_001127462.2:c.2670-185A>G;NM_001243133.1:c.2835-185A>G;NM_004895.4:c.2841-185A>G;NM_183395.2:c.2499-185A>G 454808205 185880257 20101123_snps_975435_chr1_247607768 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247607792G>T;NG_007509.2:g.33318G>T;NM_001079821.2:c.2841-161G>T;NM_001127461.2:c.2670-161G>T;NM_001127462.2:c.2670-161G>T;NM_001243133.1:c.2835-161G>T;NM_004895.4:c.2841-161G>T;NM_183395.2:c.2499-161G>T 329363886 150528208 20100804_snps_1007422_chr1_247607792 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GSK-GENETICS 114548 NC_000001.10:g.247607904A>G;NG_007509.2:g.33430A>G;NM_001079821.2:c.2841-49A>G;NM_001127461.2:c.2670-49A>G;NM_001127462.2:c.2670-49A>G;NM_001243133.1:c.2835-49A>G;NM_004895.4:c.2841-49A>G;NM_183395.2:c.2499-49A>G 491238281 201242749 chr1_245674527 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247607905G>A;NG_007509.2:g.33431G>A;NM_001079821.2:c.2841-48G>A;NM_001127461.2:c.2670-48G>A;NM_001127462.2:c.2670-48G>A;NM_001243133.1:c.2835-48G>A;NM_004895.4:c.2841-48G>A;NM_183395.2:c.2499-48G>A 488705585 200192749 20110521_exome_29269_chr1_247607905 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607911T>C;NG_007509.2:g.33437T>C;NM_001079821.2:c.2841-42T>C;NM_001127461.2:c.2670-42T>C;NM_001127462.2:c.2670-42T>C;NM_001243133.1:c.2835-42T>C;NM_004895.4:c.2841-42T>C;NM_183395.2:c.2499-42T>C 491238282 202121233 chr1_245674534 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247607912G>A;NG_007509.2:g.33438G>A;NM_001079821.2:c.2841-41G>A;NM_001127461.2:c.2670-41G>A;NM_001127462.2:c.2670-41G>A;NM_001243133.1:c.2835-41G>A;NM_004895.4:c.2841-41G>A;NM_183395.2:c.2499-41G>A 488705587 201756006 20110521_exome_29270_chr1_247607912 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607912G>A;NG_007509.2:g.33438G>A;NM_001079821.2:c.2841-41G>A;NM_001127461.2:c.2670-41G>A;NM_001127462.2:c.2670-41G>A;NM_001243133.1:c.2835-41G>A;NM_004895.4:c.2841-41G>A;NM_183395.2:c.2499-41G>A 491238283 201756006 chr1_245674535 5.00e-04 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607913G>T;NG_007509.2:g.33439G>T;NM_001079821.2:c.2841-40G>T;NM_001127461.2:c.2670-40G>T;NM_001127462.2:c.2670-40G>T;NM_001243133.1:c.2835-40G>T;NM_004895.4:c.2841-40G>T;NM_183395.2:c.2499-40G>T 491238284 201595921 chr1_245674536 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247607918G>A;NG_007509.2:g.33444G>A;NM_001079821.2:c.2841-35G>A;NM_001127461.2:c.2670-35G>A;NM_001127462.2:c.2670-35G>A;NM_001243133.1:c.2835-35G>A;NM_004895.4:c.2841-35G>A;NM_183395.2:c.2499-35G>A 454808206 190398203 20101123_snps_975436_chr1_247607918 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607918G>A;NG_007509.2:g.33444G>A;NM_001079821.2:c.2841-35G>A;NM_001127461.2:c.2670-35G>A;NM_001127462.2:c.2670-35G>A;NM_001243133.1:c.2835-35G>A;NM_004895.4:c.2841-35G>A;NM_183395.2:c.2499-35G>A 489800543 190398203 20110521_exome_333994_chr1_247607918 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 329363887 139814109 20100804_snps_1007423_chr1_247607973 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 342040957 139814109 ESP2500-chr1-247607973 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 489800545 139814109 20110521_exome_333995_chr1_247607973 1.40e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 491238285 139814109 chr1_245674596 1.40e-03 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 491313843 139814109 nonsyn_30070_chr_1_247607973 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247607973C>T;NG_007509.2:g.33499C>T;NM_001079821.2:c.2861C>T;NM_001127461.2:c.2690C>T;NM_001127462.2:c.2690C>T;NM_001243133.1:c.2855C>T;NM_004895.4:c.2861C>T;NM_183395.2:c.2519C>T;NP_001073289.1:p.Thr954Met;NP_001120933.1:p.Thr897Met;NP_001120934.1:p.Thr897Met;NP_001230062.1:p.Thr952Met;NP_004886.3:p.Thr954Met;NP_899632.1:p.Thr840Met 491619258 139814109 SNV-chr1-245674596 1.40e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247607974G>A;NG_007509.2:g.33500G>A;NM_001079821.2:c.2862G>A;NM_001127461.2:c.2691G>A;NM_001127462.2:c.2691G>A;NM_001243133.1:c.2856G>A;NM_004895.4:c.2862G>A;NM_183395.2:c.2520G>A;NP_001073289.1:p.Thr954=;NP_001120933.1:p.Thr897=;NP_001120934.1:p.Thr897=;NP_001230062.1:p.Thr952=;NP_004886.3:p.Thr954=;NP_899632.1:p.Thr840= 491238286 200474558 chr1_245674597 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247607992T>C;NG_007509.2:g.33518T>C;NM_001079821.2:c.2880T>C;NM_001127461.2:c.2709T>C;NM_001127462.2:c.2709T>C;NM_001243133.1:c.2874T>C;NM_004895.4:c.2880T>C;NM_183395.2:c.2538T>C;NP_001073289.1:p.Asp960=;NP_001120933.1:p.Asp903=;NP_001120934.1:p.Asp903=;NP_001230062.1:p.Asp958=;NP_004886.3:p.Asp960=;NP_899632.1:p.Asp846= 491238287 201291699 chr1_245674615 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247608010C>T;NG_007509.2:g.33536C>T;NM_001079821.2:c.2898C>T;NM_001127461.2:c.2727C>T;NM_001127462.2:c.2727C>T;NM_001243133.1:c.2892C>T;NM_004895.4:c.2898C>T;NM_183395.2:c.2556C>T;NP_001073289.1:p.Thr966=;NP_001120933.1:p.Thr909=;NP_001120934.1:p.Thr909=;NP_001230062.1:p.Thr964=;NP_004886.3:p.Thr966=;NP_899632.1:p.Thr852= 488705589 201229629 20110521_exome_29271_chr1_247608010 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247608058C>T;NG_007509.2:g.33584C>T;NM_001079821.2:c.2946C>T;NM_001127461.2:c.2775C>T;NM_001127462.2:c.2775C>T;NM_001243133.1:c.2940C>T;NM_004895.4:c.2946C>T;NM_183395.2:c.2604C>T;NP_001073289.1:p.Gly982=;NP_001120933.1:p.Gly925=;NP_001120934.1:p.Gly925=;NP_001230062.1:p.Gly980=;NP_004886.3:p.Gly982=;NP_899632.1:p.Gly868= 491238288 199649583 chr1_245674681 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247608072T>C;NG_007509.2:g.33598T>C;NM_001079821.2:c.2960T>C;NM_001127461.2:c.2789T>C;NM_001127462.2:c.2789T>C;NM_001243133.1:c.2954T>C;NM_004895.4:c.2960T>C;NM_183395.2:c.2618T>C;NP_001073289.1:p.Met987Thr;NP_001120933.1:p.Met930Thr;NP_001120934.1:p.Met930Thr;NP_001230062.1:p.Met985Thr;NP_004886.3:p.Met987Thr;NP_899632.1:p.Met873Thr 491238289 200900705 chr1_245674695 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247608099A>C;NG_007509.2:g.33625A>C;NM_001079821.2:c.2987A>C;NM_001127461.2:c.2816A>C;NM_001127462.2:c.2816A>C;NM_001243133.1:c.2981A>C;NM_004895.4:c.2987A>C;NM_183395.2:c.2645A>C;NP_001073289.1:p.Gln996Pro;NP_001120933.1:p.Gln939Pro;NP_001120934.1:p.Gln939Pro;NP_001230062.1:p.Gln994Pro;NP_004886.3:p.Gln996Pro;NP_899632.1:p.Gln882Pro 491238290 201884183 chr1_245674722 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247608100G>C;NG_007509.2:g.33626G>C;NM_001079821.2:c.2988G>C;NM_001127461.2:c.2817G>C;NM_001127462.2:c.2817G>C;NM_001243133.1:c.2982G>C;NM_004895.4:c.2988G>C;NM_183395.2:c.2646G>C;NP_001073289.1:p.Gln996His;NP_001120933.1:p.Gln939His;NP_001120934.1:p.Gln939His;NP_001230062.1:p.Gln994His;NP_004886.3:p.Gln996His;NP_899632.1:p.Gln882His 342040958 148150585 ESP2500-chr1-247608100 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247608100G>C;NG_007509.2:g.33626G>C;NM_001079821.2:c.2988G>C;NM_001127461.2:c.2817G>C;NM_001127462.2:c.2817G>C;NM_001243133.1:c.2982G>C;NM_004895.4:c.2988G>C;NM_183395.2:c.2646G>C;NP_001073289.1:p.Gln996His;NP_001120933.1:p.Gln939His;NP_001120934.1:p.Gln939His;NP_001230062.1:p.Gln994His;NP_004886.3:p.Gln996His;NP_899632.1:p.Gln882His 491313844 148150585 nonsyn_30071_chr_1_247608100 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247608105G>C;NG_007509.2:g.33631G>C;NM_001079821.2:c.2993G>C;NM_001127461.2:c.2822G>C;NM_001127462.2:c.2822G>C;NM_001243133.1:c.2987G>C;NM_004895.4:c.2993G>C;NM_183395.2:c.2651G>C;NP_001073289.1:p.Cys998Ser;NP_001120933.1:p.Cys941Ser;NP_001120934.1:p.Cys941Ser;NP_001230062.1:p.Cys996Ser;NP_004886.3:p.Cys998Ser;NP_899632.1:p.Cys884Ser 491238291 199517145 chr1_245674728 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247608130G>A;NC_000001.10:g.247608130G>T;NG_007509.2:g.33656G>A;NG_007509.2:g.33656G>T;NM_001079821.2:c.3011+7G>A;NM_001079821.2:c.3011+7G>T;NM_001127461.2:c.2840+7G>A;NM_001127461.2:c.2840+7G>T;NM_001127462.2:c.2840+7G>A;NM_001127462.2:c.2840+7G>T;NM_001243133.1:c.3005+7G>A;NM_001243133.1:c.3005+7G>T;NM_004895.4:c.3011+7G>A;NM_004895.4:c.3011+7G>T;NM_183395.2:c.2669+7G>A;NM_183395.2:c.2669+7G>T 491238292 200659209 chr1_245674753 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247608132G>A;NG_007509.2:g.33658G>A;NM_001079821.2:c.3011+9G>A;NM_001127461.2:c.2840+9G>A;NM_001127462.2:c.2840+9G>A;NM_001243133.1:c.3005+9G>A;NM_004895.4:c.3011+9G>A;NM_183395.2:c.2669+9G>A 491238293 201490700 chr1_245674755 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247608147C>A;NG_007509.2:g.33673C>A;NM_001079821.2:c.3011+24C>A;NM_001127461.2:c.2840+24C>A;NM_001127462.2:c.2840+24C>A;NM_001243133.1:c.3005+24C>A;NM_004895.4:c.3011+24C>A;NM_183395.2:c.2669+24C>A 454808207 181470201 20101123_snps_975437_chr1_247608147 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608147C>A;NG_007509.2:g.33673C>A;NM_001079821.2:c.3011+24C>A;NM_001127461.2:c.2840+24C>A;NM_001127462.2:c.2840+24C>A;NM_001243133.1:c.3005+24C>A;NM_004895.4:c.3011+24C>A;NM_183395.2:c.2669+24C>A 489800547 181470201 20110521_exome_333996_chr1_247608147 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608148C>T;NG_007509.2:g.33674C>T;NM_001079821.2:c.3011+25C>T;NM_001127461.2:c.2840+25C>T;NM_001127462.2:c.2840+25C>T;NM_001243133.1:c.3005+25C>T;NM_004895.4:c.3011+25C>T;NM_183395.2:c.2669+25C>T 88051319 61841189 JWB-2759470 6.00e-03 2008.02.27 2008.02.27 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608148C>T;NG_007509.2:g.33674C>T;NM_001079821.2:c.3011+25C>T;NM_001127461.2:c.2840+25C>T;NM_001127462.2:c.2840+25C>T;NM_001243133.1:c.3005+25C>T;NM_004895.4:c.3011+25C>T;NM_183395.2:c.2669+25C>T 329363888 61841189 20100804_snps_1007424_chr1_247608148 6.00e-03 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608148C>T;NG_007509.2:g.33674C>T;NM_001079821.2:c.3011+25C>T;NM_001127461.2:c.2840+25C>T;NM_001127462.2:c.2840+25C>T;NM_001243133.1:c.3005+25C>T;NM_004895.4:c.3011+25C>T;NM_183395.2:c.2669+25C>T 489800549 61841189 20110521_exome_333997_chr1_247608148 6.00e-03 2012.02.15 2012.02.21 2008.03.24 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247608148C>T;NG_007509.2:g.33674C>T;NM_001079821.2:c.3011+25C>T;NM_001127461.2:c.2840+25C>T;NM_001127462.2:c.2840+25C>T;NM_001243133.1:c.3005+25C>T;NM_004895.4:c.3011+25C>T;NM_183395.2:c.2669+25C>T 491238294 61841189 chr1_245674771 6.00e-03 2012.03.02 2012.03.02 2008.03.24 2012.11.28 137 CLINSEQ_SNP 114548 NC_000001.10:g.247608148C>T;NG_007509.2:g.33674C>T;NM_001079821.2:c.3011+25C>T;NM_001127461.2:c.2840+25C>T;NM_001127462.2:c.2840+25C>T;NM_001243133.1:c.3005+25C>T;NM_004895.4:c.3011+25C>T;NM_183395.2:c.2669+25C>T 491619259 61841189 SNV-chr1-245674771 6.00e-03 2012.03.06 2012.03.12 2008.03.24 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247608149G>A;NG_007509.2:g.33675G>A;NM_001079821.2:c.3011+26G>A;NM_001127461.2:c.2840+26G>A;NM_001127462.2:c.2840+26G>A;NM_001243133.1:c.3005+26G>A;NM_004895.4:c.3011+26G>A;NM_183395.2:c.2669+26G>A 491238295 201016257 chr1_245674772 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247608162G>A;NG_007509.2:g.33688G>A;NM_001079821.2:c.3011+39G>A;NM_001127461.2:c.2840+39G>A;NM_001127462.2:c.2840+39G>A;NM_001243133.1:c.3005+39G>A;NM_004895.4:c.3011+39G>A;NM_183395.2:c.2669+39G>A 491238296 201347686 chr1_245674785 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SI_EXO 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 71647105 45624634 NT_004836.17_12365956 1.07e-01 2007.05.07 2007.05.07 2007.05.18 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 84538204 45624634 Cor19240_SNV_20070510.chr1_243934208 1.07e-01 2007.12.07 2007.12.07 2007.05.18 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 88051321 45624634 JWB-2759471 1.07e-01 2008.02.27 2008.02.27 2007.05.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 112114704 45624634 NA19240_2008_12_16_266152_chr1_245674790 1.07e-01 2008.12.17 2008.12.17 2007.05.18 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 138194287 45624634 ENSSNP6278716 1.07e-01 2009.05.17 2009.05.17 2007.05.18 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 165636689 45624634 NA19240_36_chr1_245674790 1.07e-01 2009.09.30 2009.09.30 2007.05.18 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 199904105 45624634 BUSHMAN-chr1-245674789 1.07e-01 2010.03.07 2010.03.07 2007.05.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 219005743 45624634 pilot_1_YRI_815426_chr1_245674790 1.07e-01 2010.04.22 2010.04.22 2007.05.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 230995532 45624634 pilot_1_CEU_600161_chr1_245674790 1.07e-01 2010.05.01 2010.05.01 2007.05.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 238590488 45624634 pilot_1_CHB+JPT_475565_chr1_245674790 1.07e-01 2010.05.01 2010.05.01 2007.05.18 2012.11.28 137 GMI 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 276310598 45624634 GMI_AK_SNP_630765 1.07e-01 2010.12.16 2010.12.16 2007.05.18 2012.11.28 137 PJP 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 290789470 45624634 SNP_295828_chr1_245674790 1.07e-01 2011.01.21 2011.01.21 2007.05.18 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 480095402 45624634 HumanOmni2.5-4v1_D_kgp12554673-0_B_R_1821157326 1.07e-01 2012.01.31 2012.01.31 2007.05.18 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 482298475 45624634 HumanOmni2.5-4v1_B_SNP1-245674790-0_B_R_1612994757 1.07e-01 2012.02.01 2012.02.01 2007.05.18 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 489800551 45624634 20110521_exome_333998_chr1_247608167 1.07e-01 2012.02.15 2012.02.21 2007.05.18 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247608167C>A;NG_007509.2:g.33693C>A;NM_001079821.2:c.3011+44C>A;NM_001127461.2:c.2840+44C>A;NM_001127462.2:c.2840+44C>A;NM_001243133.1:c.3005+44C>A;NM_004895.4:c.3011+44C>A;NM_183395.2:c.2669+44C>A 491238297 45624634 chr1_245674790 1.07e-01 2012.03.02 2012.03.02 2007.05.18 2012.11.28 137 GEH 114548 NM_001079821.2:c.3011+129T>C NC_000001.10:g.247608252T>C;NG_007509.2:g.33778T>C;NM_001079821.2:c.3011+129T>C;NM_001127461.2:c.2840+129T>C;NM_001127462.2:c.2840+129T>C;NM_001243133.1:c.3005+129T>C;NM_004895.4:c.3011+129T>C;NM_183395.2:c.2669+129T>C 506396378 199475737 NLRP3:26156 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 1000GENOMES 114548 NC_000001.10:g.247608380C>T;NG_007509.2:g.33906C>T;NM_001079821.2:c.3011+257C>T;NM_001127461.2:c.2840+257C>T;NM_001127462.2:c.2840+257C>T;NM_001243133.1:c.3005+257C>T;NM_004895.4:c.3011+257C>T;NM_183395.2:c.2669+257C>T 454808208 186165656 20101123_snps_975438_chr1_247608380 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247608420G>A;NG_007509.2:g.33946G>A;NM_001079821.2:c.3011+297G>A;NM_001127461.2:c.2840+297G>A;NM_001127462.2:c.2840+297G>A;NM_001243133.1:c.3005+297G>A;NM_004895.4:c.3011+297G>A;NM_183395.2:c.2669+297G>A 329363889 146768449 20100804_snps_1007425_chr1_247608420 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608435C>T;NG_007509.2:g.33961C>T;NM_001079821.2:c.3011+312C>T;NM_001127461.2:c.2840+312C>T;NM_001127462.2:c.2840+312C>T;NM_001243133.1:c.3005+312C>T;NM_004895.4:c.3011+312C>T;NM_183395.2:c.2669+312C>T 329363890 139408366 20100804_snps_1007426_chr1_247608435 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608515T>C;NG_007509.2:g.34041T>C;NM_001079821.2:c.3011+392T>C;NM_001127461.2:c.2840+392T>C;NM_001127462.2:c.2840+392T>C;NM_001243133.1:c.3005+392T>C;NM_004895.4:c.3011+392T>C;NM_183395.2:c.2669+392T>C 454808209 188578497 20101123_snps_975439_chr1_247608515 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 18249610 12119956 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12271883 1.90e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 82434983 12119956 Cor18555_SNV_20070510.chr1_243934560 1.90e-01 2007.12.02 2007.12.02 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 88051323 12119956 JWB-0217815 1.90e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 156564125 12119956 GMI_SNP_71739483 1.90e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 167597268 12119956 NA20431_36_chr1_245675142 1.90e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 230995533 12119956 pilot_1_CEU_600162_chr1_245675142 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 238590489 12119956 pilot_1_CHB+JPT_475566_chr1_245675142 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 276310599 12119956 GMI_AK_SNP_630766 1.90e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 290789471 12119956 SNP_295829_chr1_245675142 1.90e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 482298478 12119956 HumanOmni2.5-4v1_B_SNP1-245675142-0_B_F_1618273497 1.90e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608519T>G;NG_007509.2:g.34045T>G;NM_001079821.2:c.3011+396T>G;NM_001127461.2:c.2840+396T>G;NM_001127462.2:c.2840+396T>G;NM_001243133.1:c.3005+396T>G;NM_004895.4:c.3011+396T>G;NM_183395.2:c.2669+396T>G 483806120 12119956 HumanOmni2.5-4v1_D_kgp6881230-0_B_F_1821226663 1.90e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608596G>A;NG_007509.2:g.34122G>A;NM_001079821.2:c.3011+473G>A;NM_001127461.2:c.2840+473G>A;NM_001127462.2:c.2840+473G>A;NM_001243133.1:c.3005+473G>A;NM_004895.4:c.3011+473G>A;NM_183395.2:c.2669+473G>A 454808210 181372619 20101123_snps_975440_chr1_247608596 9.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247608603C>T;NG_007509.2:g.34129C>T;NM_001079821.2:c.3011+480C>T;NM_001127461.2:c.2840+480C>T;NM_001127462.2:c.2840+480C>T;NM_001243133.1:c.3005+480C>T;NM_004895.4:c.3011+480C>T;NM_183395.2:c.2669+480C>T 454808211 185900790 20101123_snps_975441_chr1_247608603 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 85540524 57689759 Cor19129_SNV_20070510.chr1_243934669 1.34e-01 2007.12.09 2007.12.09 2007.12.14 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 88051325 57689759 JWB-2759472 1.34e-01 2008.02.27 2008.02.27 2007.12.14 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 138194288 57689759 ENSSNP6599886 1.34e-01 2009.05.17 2009.05.17 2007.12.14 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 165636698 57689759 NA19240_36_chr1_245675251 1.34e-01 2009.09.30 2009.09.30 2007.12.14 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 199904109 57689759 BUSHMAN-chr1-245675250 1.34e-01 2010.03.07 2010.03.07 2007.12.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608628A>G;NG_007509.2:g.34154A>G;NM_001079821.2:c.3011+505A>G;NM_001127461.2:c.2840+505A>G;NM_001127462.2:c.2840+505A>G;NM_001243133.1:c.3005+505A>G;NM_004895.4:c.3011+505A>G;NM_183395.2:c.2669+505A>G 329363891 57689759 20100804_snps_1007427_chr1_247608628 1.34e-01 2011.03.22 2011.03.22 2007.12.14 2011.09.09 137 HGSV 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 85740815 59882373 Cor19129_SNV_20070510.chr1_243934692 1.37e-01 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 88051327 59882373 JWB-2759473 1.37e-01 2008.02.27 2008.02.27 2007.12.15 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 138194289 59882373 ENSSNP11747591 1.37e-01 2009.05.17 2009.05.17 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 165636702 59882373 NA19240_36_chr1_245675274 1.37e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 199904113 59882373 BUSHMAN-chr1-245675273 1.37e-01 2010.03.07 2010.03.07 2007.12.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 329363892 59882373 20100804_snps_1007428_chr1_247608651 1.37e-01 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 GMI 114548 NC_000001.10:g.247608651T>C;NG_007509.2:g.34177T>C;NM_001079821.2:c.3011+528T>C;NM_001127461.2:c.2840+528T>C;NM_001127462.2:c.2840+528T>C;NM_001243133.1:c.3005+528T>C;NM_004895.4:c.3011+528T>C;NM_183395.2:c.2669+528T>C 475604029 59882373 GMI_AK_SNP_8272678 1.37e-01 2011.11.23 2011.11.23 2007.12.15 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 85409958 61295168 Cor19129_SNV_20070510.chr1_243934701 1.38e-01 2007.12.09 2007.12.09 2007.12.16 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 88051329 61295168 JWB-2759474 1.38e-01 2008.02.27 2008.02.27 2007.12.16 2011.09.09 137 ENSEMBL 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 138194290 61295168 ENSSNP11747592 1.38e-01 2009.05.17 2009.05.17 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 165636710 61295168 NA19240_36_chr1_245675283 1.38e-01 2009.09.30 2009.09.30 2007.12.16 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 199904117 61295168 BUSHMAN-chr1-245675282 1.38e-01 2010.03.07 2010.03.07 2007.12.16 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608660A>G;NG_007509.2:g.34186A>G;NM_001079821.2:c.3011+537A>G;NM_001127461.2:c.2840+537A>G;NM_001127462.2:c.2840+537A>G;NM_001243133.1:c.3005+537A>G;NM_004895.4:c.3011+537A>G;NM_183395.2:c.2669+537A>G 329363893 61295168 20100804_snps_1007429_chr1_247608660 1.38e-01 2011.03.22 2011.03.22 2007.12.16 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608738G>A;NG_007509.2:g.34264G>A;NM_001079821.2:c.3011+615G>A;NM_001127461.2:c.2840+615G>A;NM_001127462.2:c.2840+615G>A;NM_001243133.1:c.3005+615G>A;NM_004895.4:c.3011+615G>A;NM_183395.2:c.2669+615G>A 454808212 191179634 20101123_snps_975442_chr1_247608738 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 85281992 60641335 Cor19129_SNV_20070510.chr1_243934818 1.63e-01 2007.12.08 2007.12.08 2007.12.16 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 88051331 60641335 JWB-2759475 1.63e-01 2008.02.27 2008.02.27 2007.12.16 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 138194291 60641335 ENSSNP6131093 1.63e-01 2009.05.17 2009.05.17 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 165636719 60641335 NA19240_36_chr1_245675400 1.63e-01 2009.09.30 2009.09.30 2007.12.16 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 199904121 60641335 BUSHMAN-chr1-245675399 1.63e-01 2010.03.07 2010.03.07 2007.12.16 2012.11.28 137 GMI 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 276310600 60641335 GMI_AK_SNP_630767 1.63e-01 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 PJP 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 290789472 60641335 SNP_295830_chr1_245675400 1.63e-01 2011.01.21 2011.01.21 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608777C>G;NG_007509.2:g.34303C>G;NM_001079821.2:c.3011+654C>G;NM_001127461.2:c.2840+654C>G;NM_001127462.2:c.2840+654C>G;NM_001243133.1:c.3005+654C>G;NM_004895.4:c.3011+654C>G;NM_183395.2:c.2669+654C>G 329363894 60641335 20100804_snps_1007430_chr1_247608777 1.63e-01 2011.03.22 2011.03.22 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608792G>A;NG_007509.2:g.34318G>A;NM_001079821.2:c.3011+669G>A;NM_001127461.2:c.2840+669G>A;NM_001127462.2:c.2840+669G>A;NM_001243133.1:c.3005+669G>A;NM_004895.4:c.3011+669G>A;NM_183395.2:c.2669+669G>A 329363895 151052827 20100804_snps_1007431_chr1_247608792 1.10e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 9814494 6659500 chr1.NT_004536.14_1608349 3.80e-02 2003.06.27 2006.10.25 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 20537503 6659500 WGSA-200403-chr1.chr1.NT_004836.15_12272161 3.80e-02 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 67481849 6659500 HumanHap550v1.1_rs6659500 3.80e-02 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 67838921 6659500 HumanHap650Yv1.0_rs6659500 3.80e-02 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 68256055 6659500 HumanHap250Sv1.0_rs6659500 3.80e-02 2006.12.06 2006.12.07 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 70878102 6659500 HumanHap550v3.0__rs6659500 3.80e-02 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 71468206 6659500 HumanHap650Yv3.0_rs6659500 3.80e-02 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 75842324 6659500 ILMN_Human_1M_rs6659500 3.80e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 80225636 6659500 Cor18507_SNV_20070510.chr1_243934838 3.80e-02 2007.11.25 2007.11.25 2003.07.11 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 84518862 6659500 KHS732358 3.80e-02 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 85610462 6659500 Cor19129_SNV_20070510.chr1_243934838 3.80e-02 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 88051335 6659500 JWB-0217816 3.80e-02 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 98020158 6659500 1103675395167 3.80e-02 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 106647994 6659500 BGI_rs6659500 3.80e-02 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 109136640 6659500 CEU.trio.12.15.2008_293459_chr1_245675420 3.80e-02 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 112114720 6659500 NA19240_2008_12_16_266154_chr1_245675420 3.80e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 119287806 6659500 NA18507_000265633_NCBI36.1_chr1_245675420 3.80e-02 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 138194292 6659500 ENSSNP11747594 3.80e-02 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 138997896 6659500 ENSSNP197722 3.80e-02 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 154373627 6659500 Human610_Quadv1_B_rs6659500-121_T_R_1502240920 3.80e-02 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 156564133 6659500 GMI_SNP_37802706 3.80e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 159549571 6659500 Human660W-Quad_v1_A_rs6659500-121_T_R_1502240920 3.80e-02 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 165636729 6659500 NA19240_36_chr1_245675420 3.80e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 165962027 6659500 NA07022_36_chr1_245675420 3.80e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 167597270 6659500 NA20431_36_chr1_245675420 3.80e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 174058651 6659500 Human1M-Duov3_B_rs6659500-121_T_R_1502240920 3.80e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 199904125 6659500 BUSHMAN-chr1-245675419 3.80e-02 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 205194357 6659500 BCM_CMT_1011-76982 3.80e-02 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 219005744 6659500 pilot_1_YRI_815427_chr1_245675420 3.80e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 230995534 6659500 pilot_1_CEU_600163_chr1_245675420 3.80e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 238590490 6659500 pilot_1_CHB+JPT_475567_chr1_245675420 3.80e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 244305776 6659500 CVDSNP55v1_A_rs6659500 3.80e-02 2010.06.10 2010.06.10 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 253949124 6659500 SNP242708_1_245675420 3.80e-02 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 276310601 6659500 GMI_AK_SNP_630768 3.80e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247608797T>C;NG_007509.2:g.34323T>C;NM_001079821.2:c.3011+674T>C;NM_001127461.2:c.2840+674T>C;NM_001127462.2:c.2840+674T>C;NM_001243133.1:c.3005+674T>C;NM_004895.4:c.3011+674T>C;NM_183395.2:c.2669+674T>C 290789473 6659500 SNP_295831_chr1_245675420 3.80e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608801G>T;NG_007509.2:g.34327G>T;NM_001079821.2:c.3011+678G>T;NM_001127461.2:c.2840+678G>T;NM_001127462.2:c.2840+678G>T;NM_001243133.1:c.3005+678G>T;NM_004895.4:c.3011+678G>T;NM_183395.2:c.2669+678G>T 219005745 115743837 pilot_1_YRI_815428_chr1_245675424 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247608818A>G;NG_007509.2:g.34344A>G;NM_001079821.2:c.3011+695A>G;NM_001127461.2:c.2840+695A>G;NM_001127462.2:c.2840+695A>G;NM_001243133.1:c.3005+695A>G;NM_004895.4:c.3011+695A>G;NM_183395.2:c.2669+695A>G 454808213 183845123 20101123_snps_975443_chr1_247608818 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 9883200 6693094 chr1.NT_004536.14_1608415 3.20e-03 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 20440585 6693094 WGSA-200403-chr1.chr1.NT_004836.15_12272227 3.20e-03 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 80609608 6693094 Cor18507_SNV_20070510.chr1_243934904 3.20e-03 2007.11.26 2007.11.26 2003.07.11 2012.11.28 137 HGSV 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 85881812 6693094 Cor19129_SNV_20070510.chr1_243934904 3.20e-03 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 88051336 6693094 JWB-0217817 3.20e-03 2008.02.27 2008.02.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 98020159 6693094 1103675395168 3.20e-03 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 106647995 6693094 BGI_rs6693094 3.20e-03 2008.09.17 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 109136642 6693094 CEU.trio.12.15.2008_293460_chr1_245675486 3.20e-03 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 112114729 6693094 NA19240_2008_12_16_266155_chr1_245675486 3.20e-03 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 119287808 6693094 NA18507_000265634_NCBI36.1_chr1_245675486 3.20e-03 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 138194293 6693094 ENSSNP5965861 3.20e-03 2009.05.17 2009.05.17 2003.07.11 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 138997893 6693094 ENSSNP197723 3.20e-03 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 156564139 6693094 GMI_SNP_100474325 3.20e-03 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 165636735 6693094 NA19240_36_chr1_245675486 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 165962031 6693094 NA07022_36_chr1_245675486 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 167597272 6693094 NA20431_36_chr1_245675486 3.20e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 199904129 6693094 BUSHMAN-chr1-245675485 3.20e-03 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 205042311 6693094 BCM_CMT_1011-1989 3.20e-03 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 219005746 6693094 pilot_1_YRI_815429_chr1_245675486 3.20e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 230995535 6693094 pilot_1_CEU_600164_chr1_245675486 3.20e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 238590491 6693094 pilot_1_CHB+JPT_475568_chr1_245675486 3.20e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 253949127 6693094 SNP242709_1_245675486 3.20e-03 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 276310602 6693094 GMI_AK_SNP_630769 3.20e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 114548 NC_000001.10:g.247608863C>T;NG_007509.2:g.34389C>T;NM_001079821.2:c.3011+740C>T;NM_001127461.2:c.2840+740C>T;NM_001127462.2:c.2840+740C>T;NM_001243133.1:c.3005+740C>T;NM_004895.4:c.3011+740C>T;NM_183395.2:c.2669+740C>T 290789474 6693094 SNP_295832_chr1_245675486 3.20e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608875G>C;NG_007509.2:g.34401G>C;NM_001079821.2:c.3011+752G>C;NM_001127461.2:c.2840+752G>C;NM_001127462.2:c.2840+752G>C;NM_001243133.1:c.3005+752G>C;NM_004895.4:c.3011+752G>C;NM_183395.2:c.2669+752G>C 454808214 187177868 20101123_snps_975444_chr1_247608875 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 18271728 12131812 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12272274 1.90e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 88051338 12131812 JWB-0217818 1.90e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 109136646 12131812 CEU.trio.12.15.2008_293461_chr1_245675533 1.90e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 138194294 12131812 ENSSNP11747596 1.90e-01 2009.05.17 2009.05.17 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 156564145 12131812 GMI_SNP_101651107 1.90e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 167597274 12131812 NA20431_36_chr1_245675533 1.90e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 230995536 12131812 pilot_1_CEU_600165_chr1_245675533 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 238590492 12131812 pilot_1_CHB+JPT_475569_chr1_245675533 1.90e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 276310603 12131812 GMI_AK_SNP_630770 1.90e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 479702906 12131812 HumanOmni2.5-4v1_D_kgp11479560-0_B_F_1821442536 1.90e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247608910C>T;NG_007509.2:g.34436C>T;NM_001079821.2:c.3011+787C>T;NM_001127461.2:c.2840+787C>T;NM_001127462.2:c.2840+787C>T;NM_001243133.1:c.3005+787C>T;NM_004895.4:c.3011+787C>T;NM_183395.2:c.2669+787C>T 482298481 12131812 HumanOmni2.5-4v1_B_SNP1-245675533-0_B_F_1621666377 1.90e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 20539636 12745606 WGSA-200403-chr1.chr1.NT_004836.15_12272417 1.56e-02 2004.03.18 2006.10.26 2004.04.05 2012.11.28 137 ABI 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 41115936 12745606 hCV26052033 1.56e-02 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 99306030 12745606 1103675395165 1.56e-02 2008.04.03 2008.04.03 2004.04.05 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 131774291 12745606 ENSSNP197724 1.56e-02 2009.05.11 2009.10.14 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 165962034 12745606 NA07022_36_chr1_245675676 1.56e-02 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 199904133 12745606 BUSHMAN-chr1-245675675 1.56e-02 2010.03.07 2010.03.07 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 219005747 12745606 pilot_1_YRI_815430_chr1_245675676 1.56e-02 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 230995537 12745606 pilot_1_CEU_600166_chr1_245675676 1.56e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 GMI 114548 NC_000001.10:g.247609053T>A;NG_007509.2:g.34579T>A;NM_001079821.2:c.3011+930T>A;NM_001127461.2:c.2840+930T>A;NM_001127462.2:c.2840+930T>A;NM_001243133.1:c.3005+930T>A;NM_004895.4:c.3011+930T>A;NM_183395.2:c.2669+930T>A 276310604 12745606 GMI_AK_SNP_630771 1.56e-02 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 19852555 12565738 CSHL-HuFF-200402.chr1.NT_004836.15_12272692 1.67e-01 2004.02.21 2006.10.26 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 41170881 12565738 hCV26052032 1.67e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 67020423 12565738 HumanHap550v1.1_rs12565738 1.67e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 67341765 12565738 HumanHap650Yv1.0_rs12565738 1.67e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 68133130 12565738 HumanHap250Sv1.0_rs12565738 1.67e-01 2006.12.06 2006.12.07 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 70575112 12565738 HumanHap550v3.0__rs12565738 1.67e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 71116446 12565738 HumanHap650Yv3.0_rs12565738 1.67e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 74824662 12565738 SNP_M-580303 1.67e-01 2007.08.09 2007.08.09 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 75833246 12565738 ILMN_Human_1M_rs12565738 1.67e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 76665704 12565738 AFFY_6_1M_SNP_A-8526856 1.67e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 81382642 12565738 Cor18507_SNV_20070510.chr1_243935369 1.67e-01 2007.11.29 2007.11.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 85242275 12565738 KHS938314 1.67e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 88051340 12565738 JWB-0217819 1.67e-01 2008.02.27 2008.02.27 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 112114737 12565738 NA19240_2008_12_16_266156_chr1_245675951 1.67e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 119287810 12565738 NA18507_000265635_NCBI36.1_chr1_245675951 1.67e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 153233768 12565738 Human610_Quadv1_B_rs12565738-128_T_R_1502119904 1.67e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 159224415 12565738 Human660W-Quad_v1_A_rs12565738-128_T_R_1502119904 1.67e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 160282957 12565738 HumanOmni1-Quad_v1-0_B_rs12565738-128_T_R_1501399315 1.67e-01 2009.08.06 2009.10.02 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 161240008 12565738 ENSSNP197725 1.67e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 165636747 12565738 NA19240_36_chr1_245675951 1.67e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 172158970 12565738 Human1M-Duov3_B_rs12565738-128_T_R_1502119904 1.67e-01 2009.10.02 2009.10.02 2004.02.28 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 199904137 12565738 BUSHMAN-chr1-245675950 1.67e-01 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 219005748 12565738 pilot_1_YRI_815431_chr1_245675951 1.67e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 230995538 12565738 pilot_1_CEU_600167_chr1_245675951 1.67e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 238590493 12565738 pilot_1_CHB+JPT_475570_chr1_245675951 1.67e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 244276814 12565738 CVDSNP55v1_A_rs12565738 1.67e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 253949130 12565738 SNP242710_1_245675951 1.67e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 GMI 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 276310605 12565738 GMI_AK_SNP_630772 1.67e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 290789475 12565738 SNP_295833_chr1_245675951 1.67e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 479773504 12565738 HumanOmni2.5-4v1_B_rs12565738-128_T_R_1690712593 1.67e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 479779781 12565738 HumanOmniExpress-12v1_C_rs12565738-131_T_R_1857449165 1.67e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 480348581 12565738 HumanOmni1-Quad_v1-0_C_rs12565738-131_T_R_1865709714 1.67e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247609328C>T;NG_007509.2:g.34854C>T;NM_001079821.2:c.3011+1205C>T;NM_001127461.2:c.2840+1205C>T;NM_001127462.2:c.2840+1205C>T;NM_001243133.1:c.3005+1205C>T;NM_004895.4:c.3011+1205C>T;NM_183395.2:c.2669+1205C>T 484685126 12565738 HumanOmni2.5-4v1_D_rs12565738-131_T_R_1857449165 1.67e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609340C>T;NG_007509.2:g.34866C>T;NM_001079821.2:c.3011+1217C>T;NM_001127461.2:c.2840+1217C>T;NM_001127462.2:c.2840+1217C>T;NM_001243133.1:c.3005+1217C>T;NM_004895.4:c.3011+1217C>T;NM_183395.2:c.2669+1217C>T 238590494 74974762 pilot_1_CHB+JPT_475571_chr1_245675963 1.05e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247609341G>A;NG_007509.2:g.34867G>A;NM_001079821.2:c.3011+1218G>A;NM_001127461.2:c.2840+1218G>A;NM_001127462.2:c.2840+1218G>A;NM_001243133.1:c.3005+1218G>A;NM_004895.4:c.3011+1218G>A;NM_183395.2:c.2669+1218G>A 230995539 116010734 pilot_1_CEU_600168_chr1_245675964 3.70e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 77224660 56214009 Cor12156_SNV_20070510.chr1_243935689 1.67e-01 2007.10.10 2007.10.12 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 78669408 56214009 Cor18507_SNV_20070510.chr1_243935689 1.67e-01 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 88051342 56214009 JWB-2759476 1.67e-01 2008.02.27 2008.02.27 2007.12.07 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 138194295 56214009 ENSSNP6724412 1.67e-01 2009.05.17 2009.05.17 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 165636755 56214009 NA19240_36_chr1_245676271 1.67e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 199904141 56214009 BUSHMAN-chr1-245676270 1.67e-01 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 210793821 56214009 YRI.trio.3.2010_117446_chr1_245676271 1.67e-01 2010.03.29 2010.03.29 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 219005749 56214009 pilot_1_YRI_815432_chr1_245676271 1.67e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 230995540 56214009 pilot_1_CEU_600169_chr1_245676271 1.67e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 238590495 56214009 pilot_1_CHB+JPT_475572_chr1_245676271 1.67e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 276310606 56214009 GMI_AK_SNP_630773 1.67e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 PJP 114548 NC_000001.10:g.247609648G>A;NG_007509.2:g.35174G>A;NM_001079821.2:c.3011+1525G>A;NM_001127461.2:c.2840+1525G>A;NM_001127462.2:c.2840+1525G>A;NM_001243133.1:c.3005+1525G>A;NM_004895.4:c.3011+1525G>A;NM_183395.2:c.2669+1525G>A 290789476 56214009 SNP_295834_chr1_245676271 1.67e-01 2011.01.21 2011.01.21 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609662_247609663delTT;NG_007509.2:g.35188_35189delTT;NM_001079821.2:c.3011+1539_3011+1540delTT;NM_001127461.2:c.2840+1539_2840+1540delTT;NM_001127462.2:c.2840+1539_2840+1540delTT;NM_001243133.1:c.3005+1539_3005+1540delTT;NM_004895.4:c.3011+1539_3011+1540delTT;NM_183395.2:c.2669+1539_2669+1540delTT 326158632 147316904 JPTCHB_chr1_245676284_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247609668A>G;NG_007509.2:g.35194A>G;NM_001079821.2:c.3011+1545A>G;NM_001127461.2:c.2840+1545A>G;NM_001127462.2:c.2840+1545A>G;NM_001243133.1:c.3005+1545A>G;NM_004895.4:c.3011+1545A>G;NM_183395.2:c.2669+1545A>G 454808215 190918903 20101123_snps_975445_chr1_247609668 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609754G>A;NG_007509.2:g.35280G>A;NM_001079821.2:c.3011+1631G>A;NM_001127461.2:c.2840+1631G>A;NM_001127462.2:c.2840+1631G>A;NM_001243133.1:c.3005+1631G>A;NM_004895.4:c.3011+1631G>A;NM_183395.2:c.2669+1631G>A 238590496 117079589 pilot_1_CHB+JPT_475573_chr1_245676377 9.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609763G>C;NG_007509.2:g.35289G>C;NM_001079821.2:c.3011+1640G>C;NM_001127461.2:c.2840+1640G>C;NM_001127462.2:c.2840+1640G>C;NM_001243133.1:c.3005+1640G>C;NM_004895.4:c.3011+1640G>C;NM_183395.2:c.2669+1640G>C 454808216 182762911 20101123_snps_975446_chr1_247609763 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609806C>T;NG_007509.2:g.35332C>T;NM_001079821.2:c.3011+1683C>T;NM_001127461.2:c.2840+1683C>T;NM_001127462.2:c.2840+1683C>T;NM_001243133.1:c.3005+1683C>T;NM_004895.4:c.3011+1683C>T;NM_183395.2:c.2669+1683C>T 454808217 187451096 20101123_snps_975447_chr1_247609806 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609811C>T;NG_007509.2:g.35337C>T;NM_001079821.2:c.3011+1688C>T;NM_001127461.2:c.2840+1688C>T;NM_001127462.2:c.2840+1688C>T;NM_001243133.1:c.3005+1688C>T;NM_004895.4:c.3011+1688C>T;NM_183395.2:c.2669+1688C>T 454808218 191584857 20101123_snps_975448_chr1_247609811 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609828T>C;NG_007509.2:g.35354T>C;NM_001079821.2:c.3011+1705T>C;NM_001127461.2:c.2840+1705T>C;NM_001127462.2:c.2840+1705T>C;NM_001243133.1:c.3005+1705T>C;NM_004895.4:c.3011+1705T>C;NM_183395.2:c.2669+1705T>C 454808219 182649969 20101123_snps_975449_chr1_247609828 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609844T>C;NG_007509.2:g.35370T>C;NM_001079821.2:c.3011+1721T>C;NM_001127461.2:c.2840+1721T>C;NM_001127462.2:c.2840+1721T>C;NM_001243133.1:c.3005+1721T>C;NM_004895.4:c.3011+1721T>C;NM_183395.2:c.2669+1721T>C 454808220 187586779 20101123_snps_975450_chr1_247609844 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247609850T>C;NG_007509.2:g.35376T>C;NM_001079821.2:c.3011+1727T>C;NM_001127461.2:c.2840+1727T>C;NM_001127462.2:c.2840+1727T>C;NM_001243133.1:c.3005+1727T>C;NM_004895.4:c.3011+1727T>C;NM_183395.2:c.2669+1727T>C 454808221 192527791 20101123_snps_975451_chr1_247609850 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 114548 NC_000001.10:g.247609906C>T;NG_007509.2:g.35432C>T;NM_001079821.2:c.3011+1783C>T;NM_001127461.2:c.2840+1783C>T;NM_001127462.2:c.2840+1783C>T;NM_001243133.1:c.3005+1783C>T;NM_004895.4:c.3011+1783C>T;NM_183395.2:c.2669+1783C>T 119287811 74154647 NA18507_000265636_NCBI36.1_chr1_245676529 3.48e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609906C>T;NG_007509.2:g.35432C>T;NM_001079821.2:c.3011+1783C>T;NM_001127461.2:c.2840+1783C>T;NM_001127462.2:c.2840+1783C>T;NM_001243133.1:c.3005+1783C>T;NM_004895.4:c.3011+1783C>T;NM_183395.2:c.2669+1783C>T 219005750 74154647 pilot_1_YRI_815433_chr1_245676529 3.48e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 193163332 111293052 BUSHMAN-chr1-245676606-245676606 3.20e-03 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 BL 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 255981175 111293052 SNP15682_1_245676606 3.20e-03 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 326158637 111293052 JPTCHB_chr1_245676606_indel 3.20e-03 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 326164570 111293052 CEU_chr1_245676606_indel 3.20e-03 2011.03.11 2011.04.01 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 326215359 111293052 YRI_chr1_245676606_indel 3.20e-03 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247609983_247609984insT;NG_007509.2:g.35509_35510insT;NM_001079821.2:c.3012-1724_3012-1723insT;NM_001127461.2:c.2841-1724_2841-1723insT;NM_001127462.2:c.2841-1724_2841-1723insT;NM_001243133.1:c.3006-1724_3006-1723insT;NM_004895.4:c.3012-1724_3012-1723insT;NM_183395.2:c.2670-1724_2670-1723insT 499190926 111293052 20110316_indels_chr1_247609983_247609984 3.20e-03 2012.03.19 2012.03.19 2010.07.04 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 77939045 56193345 Cor12156_DIV_20070510.chr1_243936029-243936030_1 2007.10.16 2007.10.16 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 77939652 56193345 Cor12156_DIV_20070510.chr1_243936029-243936030_2 2007.10.16 2007.10.16 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 79764756 56193345 Cor18507_DIV_20070510.chr1_243936029-243936030_1 2007.11.23 2007.11.23 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 79996622 56193345 Cor18507_DIV_20070510.chr1_243936029-243936030_2 2007.11.24 2007.11.24 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 81120935 56193345 Cor18956_DIV_20070510.chr1_243936029-243936030_1 2007.11.27 2007.11.27 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 81939928 56193345 Cor18956_DIV_20070510.chr1_243936029-243936030_2 2007.12.01 2007.12.01 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 82053384 56193345 Cor18555_DIV_20070510.chr1_243936029-243936030_1 2007.12.02 2007.12.02 2007.12.07 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 95261593 56193345 1104685304941 2008.03.21 2008.12.02 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 100208217 56193345 INDEL_GP36_2008a_1235107_0 2008.05.16 2008.05.16 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 100208219 56193345 INDEL_GP36_2008a_1235107_1 2008.05.16 2008.05.16 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 100208224 56193345 INDEL_GP36_2008a_1235107_2 2008.05.16 2008.05.16 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 100208226 56193345 INDEL_GP36_2008a_1235107_3 2008.05.16 2008.05.16 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 102509969 56193345 INDEL_GP36_2008a_942417_0 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 102509971 56193345 INDEL_GP36_2008a_942417_1 2008.05.18 2008.05.18 2007.12.07 2012.11.28 137 BGI 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 104673304 56193345 BGI_YHIndel06233 2008.06.09 2009.06.16 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 154622643 56193345 GMI_INDEL-13077 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 287692045 56193345 GMI_NA10851_INDEL_24673 2010.12.18 2010.12.20 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 288119549 56193345 GMI_AK_INDEL_90640 2010.12.21 2011.12.23 2007.12.07 2012.11.28 137 PJP 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 294636729 56193345 DIP_74433_chr1_245676607 2011.01.21 2011.01.21 2007.12.07 2012.11.28 137 PJP 114548 NC_000001.10:g.247609984_247609985insT;NG_007509.2:g.35510_35511insT;NM_001079821.2:c.3012-1723_3012-1722insT;NM_001127461.2:c.2841-1723_2841-1722insT;NM_001127462.2:c.2841-1723_2841-1722insT;NM_001243133.1:c.3006-1723_3006-1722insT;NM_004895.4:c.3012-1723_3012-1722insT;NM_183395.2:c.2670-1723_2670-1722insT 294636730 56193345 DIP_74434_chr1_245676611 2011.01.21 2011.01.21 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610043T>C;NG_007509.2:g.35569T>C;NM_001079821.2:c.3012-1664T>C;NM_001127461.2:c.2841-1664T>C;NM_001127462.2:c.2841-1664T>C;NM_001243133.1:c.3006-1664T>C;NM_004895.4:c.3012-1664T>C;NM_183395.2:c.2670-1664T>C 454808222 184390339 20101123_snps_975452_chr1_247610043 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247610045_247610048delTTGT;NG_007509.2:g.35571_35574delTTGT;NM_001079821.2:c.3012-1662_3012-1659delTTGT;NM_001127461.2:c.2841-1662_2841-1659delTTGT;NM_001127462.2:c.2841-1662_2841-1659delTTGT;NM_001243133.1:c.3006-1662_3006-1659delTTGT;NM_004895.4:c.3012-1662_3012-1659delTTGT;NM_183395.2:c.2670-1662_2670-1659delTTGT 326215361 139038280 YRI_chr1_245676667_indel 1.88e-02 2011.03.11 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610045_247610048delTTGT;NG_007509.2:g.35571_35574delTTGT;NM_001079821.2:c.3012-1662_3012-1659delTTGT;NM_001127461.2:c.2841-1662_2841-1659delTTGT;NM_001127462.2:c.2841-1662_2841-1659delTTGT;NM_001243133.1:c.3006-1662_3006-1659delTTGT;NM_004895.4:c.3012-1662_3012-1659delTTGT;NM_183395.2:c.2670-1662_2670-1659delTTGT 499190930 139038280 20110316_indels_chr1_247610044_247610047 1.88e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 HGSV 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 77278496 55977159 Cor12156_SNV_20070510.chr1_243936177 1.83e-01 2007.10.10 2007.10.12 2007.12.07 2012.11.28 137 HGSV 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 78763218 55977159 Cor18507_SNV_20070510.chr1_243936177 1.83e-01 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 88051344 55977159 JWB-2759477 1.83e-01 2008.02.27 2008.02.27 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 112114745 55977159 NA19240_2008_12_16_266157_chr1_245676759 1.83e-01 2008.12.17 2008.12.17 2007.12.07 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 119287814 55977159 NA18507_000265637_NCBI36.1_chr1_245676759 1.83e-01 2009.01.22 2009.01.22 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 165636765 55977159 NA19240_36_chr1_245676759 1.83e-01 2009.09.30 2009.09.30 2007.12.07 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 199904145 55977159 BUSHMAN-chr1-245676758 1.83e-01 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 219005751 55977159 pilot_1_YRI_815434_chr1_245676759 1.83e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 230995542 55977159 pilot_1_CEU_600171_chr1_245676759 1.83e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 238590497 55977159 pilot_1_CHB+JPT_475574_chr1_245676759 1.83e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 253949133 55977159 SNP242711_1_245676759 1.83e-01 2010.08.19 2010.08.19 2007.12.07 2012.11.28 137 GMI 114548 NC_000001.10:g.247610136T>C;NG_007509.2:g.35662T>C;NM_001079821.2:c.3012-1571T>C;NM_001127461.2:c.2841-1571T>C;NM_001127462.2:c.2841-1571T>C;NM_001243133.1:c.3006-1571T>C;NM_004895.4:c.3012-1571T>C;NM_183395.2:c.2670-1571T>C 276310607 55977159 GMI_AK_SNP_630774 1.83e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 SC_JCM 114548 NC_000001.10:g.247610320G>C;NG_007509.2:g.35846G>C;NM_001079821.2:c.3012-1387G>C;NM_001127461.2:c.2841-1387G>C;NM_001127462.2:c.2841-1387G>C;NM_001243133.1:c.3006-1387G>C;NM_004895.4:c.3012-1387G>C;NM_183395.2:c.2670-1387G>C 5853922 4385758 NT_031730.5_656502 2003.01.11 2003.10.10 2003.02.20 2011.07.08 137 HGSV 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 77465557 56383829 Cor12156_SNV_20070510.chr1_243936452 4.97e-01 2007.10.13 2007.10.13 2007.12.08 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 88051346 56383829 JWB-2759478 4.97e-01 2008.02.27 2008.02.27 2007.12.08 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 99306031 56383829 1103675395169 4.97e-01 2008.04.03 2008.04.03 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 109136650 56383829 CEU.trio.12.15.2008_293462_chr1_245677034 4.97e-01 2008.12.16 2008.12.16 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 112114753 56383829 NA19240_2008_12_16_266158_chr1_245677034 4.97e-01 2008.12.17 2008.12.17 2007.12.08 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 119287816 56383829 NA18507_000265638_NCBI36.1_chr1_245677034 4.97e-01 2009.01.22 2009.01.22 2007.12.08 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 138194296 56383829 ENSSNP5953046 4.97e-01 2009.05.17 2009.05.17 2007.12.08 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 142478648 56383829 ENSSNP9043046 4.97e-01 2009.06.05 2009.10.16 2007.12.08 2012.11.28 137 GMI 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 156564152 56383829 GMI_SNP_71571628 4.97e-01 2009.06.25 2009.06.25 2007.12.08 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 165636773 56383829 NA19240_36_chr1_245677034 4.97e-01 2009.09.30 2009.09.30 2007.12.08 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 165962038 56383829 NA07022_36_chr1_245677034 4.97e-01 2009.09.30 2009.09.30 2007.12.08 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 167597276 56383829 NA20431_36_chr1_245677034 4.97e-01 2009.09.30 2009.09.30 2007.12.08 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 199904149 56383829 BUSHMAN-chr1-245677033 4.97e-01 2010.03.07 2010.03.07 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 219005752 56383829 pilot_1_YRI_815435_chr1_245677034 4.97e-01 2010.04.22 2010.04.22 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 230995543 56383829 pilot_1_CEU_600172_chr1_245677034 4.97e-01 2010.05.01 2010.05.01 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 238590498 56383829 pilot_1_CHB+JPT_475575_chr1_245677034 4.97e-01 2010.05.01 2010.05.01 2007.12.08 2012.11.28 137 BL 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 253949136 56383829 SNP242712_1_245677034 4.97e-01 2010.08.19 2010.08.19 2007.12.08 2012.11.28 137 GMI 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 276310608 56383829 GMI_AK_SNP_630775 4.97e-01 2010.12.16 2010.12.16 2007.12.08 2012.11.28 137 PJP 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 290789477 56383829 SNP_295835_chr1_245677034 4.97e-01 2011.01.21 2011.01.21 2007.12.08 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 482298484 56383829 HumanOmni2.5-4v1_B_SNP1-245677034-0_B_F_1617926639 4.97e-01 2012.02.01 2012.02.01 2007.12.08 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247610411C>T;NG_007509.2:g.35937C>T;NM_001079821.2:c.3012-1296C>T;NM_001127461.2:c.2841-1296C>T;NM_001127462.2:c.2841-1296C>T;NM_001243133.1:c.3006-1296C>T;NM_004895.4:c.3012-1296C>T;NM_183395.2:c.2670-1296C>T 483988907 56383829 HumanOmni2.5-4v1_D_kgp7880420-0_B_F_1817959713 4.97e-01 2012.02.03 2012.02.03 2007.12.08 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610412G>A;NG_007509.2:g.35938G>A;NM_001079821.2:c.3012-1295G>A;NM_001127461.2:c.2841-1295G>A;NM_001127462.2:c.2841-1295G>A;NM_001243133.1:c.3006-1295G>A;NM_004895.4:c.3012-1295G>A;NM_183395.2:c.2670-1295G>A 219005753 114788711 pilot_1_YRI_815436_chr1_245677035 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247610433G>A;NG_007509.2:g.35959G>A;NM_001079821.2:c.3012-1274G>A;NM_001127461.2:c.2841-1274G>A;NM_001127462.2:c.2841-1274G>A;NM_001243133.1:c.3006-1274G>A;NM_004895.4:c.3012-1274G>A;NM_183395.2:c.2670-1274G>A 219005754 115561347 pilot_1_YRI_815437_chr1_245677056 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247610471G>A;NG_007509.2:g.35997G>A;NM_001079821.2:c.3012-1236G>A;NM_001127461.2:c.2841-1236G>A;NM_001127462.2:c.2841-1236G>A;NM_001243133.1:c.3006-1236G>A;NM_004895.4:c.3012-1236G>A;NM_183395.2:c.2670-1236G>A 210793824 115499311 YRI.trio.3.2010_117447_chr1_245677094 1.80e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610471G>A;NG_007509.2:g.35997G>A;NM_001079821.2:c.3012-1236G>A;NM_001127461.2:c.2841-1236G>A;NM_001127462.2:c.2841-1236G>A;NM_001243133.1:c.3006-1236G>A;NM_004895.4:c.3012-1236G>A;NM_183395.2:c.2670-1236G>A 329363896 115499311 20100804_snps_1007432_chr1_247610471 1.80e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610518C>T;NG_007509.2:g.36044C>T;NM_001079821.2:c.3012-1189C>T;NM_001127461.2:c.2841-1189C>T;NM_001127462.2:c.2841-1189C>T;NM_001243133.1:c.3006-1189C>T;NM_004895.4:c.3012-1189C>T;NM_183395.2:c.2670-1189C>T 454808223 190500975 20101123_snps_975453_chr1_247610518 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247610655A>G;NG_007509.2:g.36181A>G;NM_001079821.2:c.3012-1052A>G;NM_001127461.2:c.2841-1052A>G;NM_001127462.2:c.2841-1052A>G;NM_001243133.1:c.3006-1052A>G;NM_004895.4:c.3012-1052A>G;NM_183395.2:c.2670-1052A>G 454808224 192592854 20101123_snps_975454_chr1_247610655 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247610820G>A;NG_007509.2:g.36346G>A;NM_001079821.2:c.3012-887G>A;NM_001127461.2:c.2841-887G>A;NM_001127462.2:c.2841-887G>A;NM_001243133.1:c.3006-887G>A;NM_004895.4:c.3012-887G>A;NM_183395.2:c.2670-887G>A 454808225 184460429 20101123_snps_975455_chr1_247610820 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 114548 NC_000001.10:g.247610829G>T;NG_007509.2:g.36355G>T;NM_001079821.2:c.3012-878G>T;NM_001127461.2:c.2841-878G>T;NM_001127462.2:c.2841-878G>T;NM_001243133.1:c.3006-878G>T;NM_004895.4:c.3012-878G>T;NM_183395.2:c.2670-878G>T 329363897 146357284 20100804_snps_1007433_chr1_247610829 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247610905A>T;NG_007509.2:g.36431A>T;NM_001079821.2:c.3012-802A>T;NM_001127461.2:c.2841-802A>T;NM_001127462.2:c.2841-802A>T;NM_001243133.1:c.3006-802A>T;NM_004895.4:c.3012-802A>T;NM_183395.2:c.2670-802A>T 454808226 189217644 20101123_snps_975456_chr1_247610905 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 98584930 71568615 1103675395170 4.73e-01 2008.04.01 2008.04.01 2009.02.13 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 193163334 71568615 BUSHMAN-chr1-245677586-245677586 4.73e-01 2010.02.16 2010.02.16 2009.02.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 326158640 71568615 JPTCHB_chr1_245677586_indel 4.73e-01 2011.03.11 2011.04.02 2009.02.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 326164575 71568615 CEU_chr1_245677586_indel 4.73e-01 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 326215364 71568615 YRI_chr1_245677586_indel 4.73e-01 2011.03.11 2011.04.02 2009.02.13 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610963_247610964insA;NG_007509.2:g.36489_36490insA;NM_001079821.2:c.3012-744_3012-743insA;NM_001127461.2:c.2841-744_2841-743insA;NM_001127462.2:c.2841-744_2841-743insA;NM_001243133.1:c.3006-744_3006-743insA;NM_004895.4:c.3012-744_3012-743insA;NM_183395.2:c.2670-744_2670-743insA 499190934 71568615 20110316_indels_chr1_247610963_247610964 4.73e-01 2012.03.19 2012.03.19 2009.02.13 2012.11.28 137 HGSV 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 82439271 60831025 Cor19240_DIV_20070510.chr1_243937011-243937012_1 2007.12.02 2007.12.02 2007.12.16 2012.11.28 137 HGSV 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 83233975 60831025 Cor18517_DIV_20070510.chr1_243937011-243937012_1 2007.12.04 2007.12.04 2007.12.16 2012.11.28 137 GMI 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 154622650 60831025 GMI_INDEL-13078 2009.06.24 2009.06.24 2007.12.16 2012.11.28 137 GMI 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 288119551 60831025 GMI_AK_INDEL_90641 2010.12.21 2011.12.23 2007.12.16 2012.11.28 137 PJP 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 294636731 60831025 DIP_74435_chr1_245677587 2011.01.21 2011.01.21 2007.12.16 2012.11.28 137 PJP 114548 NC_000001.10:g.247610964_247610965insA;NG_007509.2:g.36490_36491insA;NM_001079821.2:c.3012-743_3012-742insA;NM_001127461.2:c.2841-743_2841-742insA;NM_001127462.2:c.2841-743_2841-742insA;NM_001243133.1:c.3006-743_3006-742insA;NM_004895.4:c.3012-743_3012-742insA;NM_183395.2:c.2670-743_2670-742insA 294636732 60831025 DIP_74436_chr1_245677593 2011.01.21 2011.01.21 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247610993G>A;NG_007509.2:g.36519G>A;NM_001079821.2:c.3012-714G>A;NM_001127461.2:c.2841-714G>A;NM_001127462.2:c.2841-714G>A;NM_001243133.1:c.3006-714G>A;NM_004895.4:c.3012-714G>A;NM_183395.2:c.2670-714G>A 454808227 181216526 20101123_snps_975457_chr1_247610993 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 114548 NC_000001.10:g.247611025G>A;NG_007509.2:g.36551G>A;NM_001079821.2:c.3012-682G>A;NM_001127461.2:c.2841-682G>A;NM_001127462.2:c.2841-682G>A;NM_001243133.1:c.3006-682G>A;NM_004895.4:c.3012-682G>A;NM_183395.2:c.2670-682G>A 6221991 4593865 NT_031730.5_657207 2003.01.12 2003.10.10 2003.02.20 2011.07.08 137 ABI 114548 NC_000001.10:g.247611025G>A;NG_007509.2:g.36551G>A;NM_001079821.2:c.3012-682G>A;NM_001127461.2:c.2841-682G>A;NM_001127462.2:c.2841-682G>A;NM_001243133.1:c.3006-682G>A;NM_004895.4:c.3012-682G>A;NM_183395.2:c.2670-682G>A 41206341 4593865 hCV32292677 2005.07.17 2005.07.17 2003.02.20 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247611123A>G;NG_007509.2:g.36649A>G;NM_001079821.2:c.3012-584A>G;NM_001127461.2:c.2841-584A>G;NM_001127462.2:c.2841-584A>G;NM_001243133.1:c.3006-584A>G;NM_004895.4:c.3012-584A>G;NM_183395.2:c.2670-584A>G 219005755 75109973 pilot_1_YRI_815438_chr1_245677746 6.96e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247611123A>G;NG_007509.2:g.36649A>G;NM_001079821.2:c.3012-584A>G;NM_001127461.2:c.2841-584A>G;NM_001127462.2:c.2841-584A>G;NM_001243133.1:c.3006-584A>G;NM_004895.4:c.3012-584A>G;NM_183395.2:c.2670-584A>G 230995544 75109973 pilot_1_CEU_600173_chr1_245677746 6.96e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247611123A>G;NG_007509.2:g.36649A>G;NM_001079821.2:c.3012-584A>G;NM_001127461.2:c.2841-584A>G;NM_001127462.2:c.2841-584A>G;NM_001243133.1:c.3006-584A>G;NM_004895.4:c.3012-584A>G;NM_183395.2:c.2670-584A>G 238590499 75109973 pilot_1_CHB+JPT_475576_chr1_245677746 6.96e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 114548 NC_000001.10:g.247611196A>C;NG_007509.2:g.36722A>C;NM_001079821.2:c.3012-511A>C;NM_001127461.2:c.2841-511A>C;NM_001127462.2:c.2841-511A>C;NM_001243133.1:c.3006-511A>C;NM_004895.4:c.3012-511A>C;NM_183395.2:c.2670-511A>C 329363898 139381227 20100804_snps_1007434_chr1_247611196 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611276T>C;NG_007509.2:g.36802T>C;NM_001079821.2:c.3012-431T>C;NM_001127461.2:c.2841-431T>C;NM_001127462.2:c.2841-431T>C;NM_001243133.1:c.3006-431T>C;NM_004895.4:c.3012-431T>C;NM_183395.2:c.2670-431T>C 219005756 114947442 pilot_1_YRI_815439_chr1_245677899 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247611314delT;NG_007509.2:g.36840delT;NM_001079821.2:c.3012-393delT;NM_001127461.2:c.2841-393delT;NM_001127462.2:c.2841-393delT;NM_001243133.1:c.3006-393delT;NM_004895.4:c.3012-393delT;NM_183395.2:c.2670-393delT 193163336 112008153 BUSHMAN-chr1-245677936-245677937 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 HGSV 114548 NC_000001.10:g.247611326T>C;NG_007509.2:g.36852T>C;NM_001079821.2:c.3012-381T>C;NM_001127461.2:c.2841-381T>C;NM_001127462.2:c.2841-381T>C;NM_001243133.1:c.3006-381T>C;NM_004895.4:c.3012-381T>C;NM_183395.2:c.2670-381T>C 77562610 34671635 Cor12156_SNV_20070510.chr1_243937367 2007.10.13 2007.10.13 2006.03.14 2012.12.05 137 SC_JCM 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 5840388 4378247 NT_031730.5_657509 2003.01.11 2003.10.10 2003.02.20 2013.01.17 137 CSHL-HAPMAP 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 16401604 4378247 CSHL-HuAA-200402.chr1.NT_004836.15_12274691 2004.02.17 2004.04.07 2003.02.20 2013.01.17 137 PERLEGEN 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 23207105 4378247 afd4217711 2004.08.20 2004.09.13 2003.02.20 2013.01.17 137 PERLEGEN 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 68800575 4378247 PGP04217711 2007.01.30 2008.03.31 2003.02.20 2013.01.17 137 1000GENOMES 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 210480741 4378247 CEU.trio.3.2010_12875_chr1_245677950 2010.03.29 2010.03.29 2003.02.20 2013.01.17 137 BL 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 253949139 4378247 SNP242713_1_245677950 2010.08.19 2010.08.19 2003.02.20 2013.01.17 137 GMI 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 276310609 4378247 GMI_AK_SNP_630776 2010.12.16 2010.12.16 2003.02.20 2013.01.17 137 ILLUMINA 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 482298487 4378247 HumanOmni2.5-4v1_B_SNP1-245677950-0_T_R_1616688132 2012.02.01 2012.02.01 2003.02.20 2013.01.17 137 ILLUMINA 114548 NC_000001.10:g.247611327T>C;NG_007509.2:g.36853T>C;NM_001079821.2:c.3012-380T>C;NM_001127461.2:c.2841-380T>C;NM_001127462.2:c.2841-380T>C;NM_001243133.1:c.3006-380T>C;NM_004895.4:c.3012-380T>C;NM_183395.2:c.2670-380T>C 483441644 4378247 HumanOmni2.5-4v1_D_kgp4901854-0_T_R_1817696940 2012.02.02 2012.02.02 2003.02.20 2013.01.17 137 ILLUMINA-UK 114548 NC_000001.10:g.247611413T>C;NG_007509.2:g.36939T>C;NM_001079821.2:c.3012-294T>C;NM_001127461.2:c.2841-294T>C;NM_001127462.2:c.2841-294T>C;NM_001243133.1:c.3006-294T>C;NM_004895.4:c.3012-294T>C;NM_183395.2:c.2670-294T>C 119287817 74154649 NA18507_000265639_NCBI36.1_chr1_245678036 5.36e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611413T>C;NG_007509.2:g.36939T>C;NM_001079821.2:c.3012-294T>C;NM_001127461.2:c.2841-294T>C;NM_001127462.2:c.2841-294T>C;NM_001243133.1:c.3006-294T>C;NM_004895.4:c.3012-294T>C;NM_183395.2:c.2670-294T>C 454808228 74154649 20101123_snps_975458_chr1_247611413 5.36e-02 2011.07.20 2011.07.20 2009.02.15 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247611414C>T;NG_007509.2:g.36940C>T;NM_001079821.2:c.3012-293C>T;NM_001127461.2:c.2841-293C>T;NM_001127462.2:c.2841-293C>T;NM_001243133.1:c.3006-293C>T;NM_004895.4:c.3012-293C>T;NM_183395.2:c.2670-293C>T 119287819 74154650 NA18507_000265640_NCBI36.1_chr1_245678037 5.40e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611414C>T;NG_007509.2:g.36940C>T;NM_001079821.2:c.3012-293C>T;NM_001127461.2:c.2841-293C>T;NM_001127462.2:c.2841-293C>T;NM_001243133.1:c.3006-293C>T;NM_004895.4:c.3012-293C>T;NM_183395.2:c.2670-293C>T 454808229 74154650 20101123_snps_975459_chr1_247611414 5.40e-02 2011.07.20 2011.07.20 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611414C>T;NG_007509.2:g.36940C>T;NM_001079821.2:c.3012-293C>T;NM_001127461.2:c.2841-293C>T;NM_001127462.2:c.2841-293C>T;NM_001243133.1:c.3006-293C>T;NM_004895.4:c.3012-293C>T;NM_183395.2:c.2670-293C>T 480896630 74154650 HumanOmni2.5-4v1_D_kgp15609901-0_T_R_1837156121 5.40e-02 2012.01.31 2012.01.31 2009.02.15 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611414C>T;NG_007509.2:g.36940C>T;NM_001079821.2:c.3012-293C>T;NM_001127461.2:c.2841-293C>T;NM_001127462.2:c.2841-293C>T;NM_001243133.1:c.3006-293C>T;NM_004895.4:c.3012-293C>T;NM_183395.2:c.2670-293C>T 482298490 74154650 HumanOmni2.5-4v1_B_SNP1-245678037-0_T_R_1631200344 5.40e-02 2012.02.01 2012.02.01 2009.02.15 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 16391546 11577509 CSHL-HuAA-200402.chr1.NT_004836.15_12274823 1.36e-01 2004.02.17 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 20498513 11577509 WGSA-200403-chr1.chr1.NT_004836.15_12274823 1.36e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 ABI 114548 NC_000001.10:g.247611459_247611460delGGinsAC;NG_007509.2:g.36985_36986delGGinsAC;NM_001079821.2:c.3012-248_3012-247delGGinsAC;NM_001127461.2:c.2841-248_2841-247delGGinsAC;NM_001127462.2:c.2841-248_2841-247delGGinsAC;NM_001243133.1:c.3006-248_3006-247delGGinsAC;NM_004895.4:c.3012-248_3012-247delGGinsAC;NM_183395.2:c.2670-248_2670-247delGGinsAC 41225233 35560836 hCV32484954 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 77136230 11577509 Cor12156_SNV_20070510.chr1_243937500 1.36e-01 2007.10.09 2007.10.11 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 109136654 11577509 CEU.trio.12.15.2008_293463_chr1_245678082 1.36e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 119287821 11577509 NA18507_000265641_NCBI36.1_chr1_245678082 1.36e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 161240010 11577509 ENSSNP197728 1.36e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 219005760 11577509 pilot_1_YRI_815443_chr1_245678082 1.36e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 230995546 11577509 pilot_1_CEU_600175_chr1_245678082 1.36e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 238590500 11577509 pilot_1_CHB+JPT_475577_chr1_245678082 1.36e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 482298493 11577509 HumanOmni2.5-4v1_B_SNP1-245678082-0_T_F_1617548555 1.36e-01 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611459G>A;NG_007509.2:g.36985G>A;NM_001079821.2:c.3012-248G>A;NM_001127461.2:c.2841-248G>A;NM_001127462.2:c.2841-248G>A;NM_001243133.1:c.3006-248G>A;NM_004895.4:c.3012-248G>A;NM_183395.2:c.2670-248G>A 483915050 11577509 HumanOmni2.5-4v1_D_kgp747060-0_T_F_1820698166 1.36e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 16391547 11577510 CSHL-HuAA-200402.chr1.NT_004836.15_12274824 1.35e-01 2004.02.17 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 20498515 11577510 WGSA-200403-chr1.chr1.NT_004836.15_12274824 1.35e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 HGSV 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 77431751 11577510 Cor12156_SNV_20070510.chr1_243937501 1.35e-01 2007.10.13 2007.10.13 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 109136658 11577510 CEU.trio.12.15.2008_293464_chr1_245678083 1.35e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 119287823 11577510 NA18507_000265642_NCBI36.1_chr1_245678083 1.35e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 161240012 11577510 ENSSNP197729 1.35e-01 2009.09.24 2009.09.24 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 219005761 11577510 pilot_1_YRI_815444_chr1_245678083 1.35e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 230995547 11577510 pilot_1_CEU_600176_chr1_245678083 1.35e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 238590501 11577510 pilot_1_CHB+JPT_475578_chr1_245678083 1.35e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 114548 NC_000001.10:g.247611460G>C;NG_007509.2:g.36986G>C;NM_001079821.2:c.3012-247G>C;NM_001127461.2:c.2841-247G>C;NM_001127462.2:c.2841-247G>C;NM_001243133.1:c.3006-247G>C;NM_004895.4:c.3012-247G>C;NM_183395.2:c.2670-247G>C 253949142 11577510 SNP242714_1_245678083 1.35e-01 2010.08.19 2010.08.19 2004.02.28 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247611485G>A;NG_007509.2:g.37011G>A;NM_001079821.2:c.3012-222G>A;NM_001127461.2:c.2841-222G>A;NM_001127462.2:c.2841-222G>A;NM_001243133.1:c.3006-222G>A;NM_004895.4:c.3012-222G>A;NM_183395.2:c.2670-222G>A 18074673 12024078 SC-CHR1_NA11321-200402.chr1.NT_004836.15_12274849 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611491G>A;NG_007509.2:g.37017G>A;NM_001079821.2:c.3012-216G>A;NM_001127461.2:c.2841-216G>A;NM_001127462.2:c.2841-216G>A;NM_001243133.1:c.3006-216G>A;NM_004895.4:c.3012-216G>A;NM_183395.2:c.2670-216G>A 238590502 117169243 pilot_1_CHB+JPT_475579_chr1_245678114 6.40e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611496G>C;NG_007509.2:g.37022G>C;NM_001079821.2:c.3012-211G>C;NM_001127461.2:c.2841-211G>C;NM_001127462.2:c.2841-211G>C;NM_001243133.1:c.3006-211G>C;NM_004895.4:c.3012-211G>C;NM_183395.2:c.2670-211G>C 454808230 180705418 20101123_snps_975460_chr1_247611496 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247611514T>C;NG_007509.2:g.37040T>C;NM_001079821.2:c.3012-193T>C;NM_001127461.2:c.2841-193T>C;NM_001127462.2:c.2841-193T>C;NM_001243133.1:c.3006-193T>C;NM_004895.4:c.3012-193T>C;NM_183395.2:c.2670-193T>C 165636782 112819557 NA19240_36_chr1_245678137 4.76e-02 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BUSHMAN 114548 NC_000001.10:g.247611514T>C;NG_007509.2:g.37040T>C;NM_001079821.2:c.3012-193T>C;NM_001127461.2:c.2841-193T>C;NM_001127462.2:c.2841-193T>C;NM_001243133.1:c.3006-193T>C;NM_004895.4:c.3012-193T>C;NM_183395.2:c.2670-193T>C 199904153 112819557 BUSHMAN-chr1-245678136 4.76e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611514T>C;NG_007509.2:g.37040T>C;NM_001079821.2:c.3012-193T>C;NM_001127461.2:c.2841-193T>C;NM_001127462.2:c.2841-193T>C;NM_001243133.1:c.3006-193T>C;NM_004895.4:c.3012-193T>C;NM_183395.2:c.2670-193T>C 210793827 112819557 YRI.trio.3.2010_117448_chr1_245678137 4.76e-02 2010.03.29 2010.03.29 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611514T>C;NG_007509.2:g.37040T>C;NM_001079821.2:c.3012-193T>C;NM_001127461.2:c.2841-193T>C;NM_001127462.2:c.2841-193T>C;NM_001243133.1:c.3006-193T>C;NM_004895.4:c.3012-193T>C;NM_183395.2:c.2670-193T>C 219005762 112819557 pilot_1_YRI_815445_chr1_245678137 4.76e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611514T>C;NG_007509.2:g.37040T>C;NM_001079821.2:c.3012-193T>C;NM_001127461.2:c.2841-193T>C;NM_001127462.2:c.2841-193T>C;NM_001243133.1:c.3006-193T>C;NM_004895.4:c.3012-193T>C;NM_183395.2:c.2670-193T>C 230995548 112819557 pilot_1_CEU_600177_chr1_245678137 4.76e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247611525G>C;NG_007509.2:g.37051G>C;NM_001079821.2:c.3012-182G>C;NM_001127461.2:c.2841-182G>C;NM_001127462.2:c.2841-182G>C;NM_001243133.1:c.3006-182G>C;NM_004895.4:c.3012-182G>C;NM_183395.2:c.2670-182G>C 329363899 143298089 20100804_snps_1007435_chr1_247611525 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 114548 NC_000001.10:g.247611570delC;NC_000001.10:g.247611570delCinsCTT;NG_007509.2:g.37096delC;NG_007509.2:g.37096delCinsCTT;NM_001079821.2:c.3012-137delC;NM_001079821.2:c.3012-137delCinsCTT;NM_001127461.2:c.2841-137delC;NM_001127461.2:c.2841-137delCinsCTT;NM_001127462.2:c.2841-137delC;NM_001127462.2:c.2841-137delCinsCTT;NM_001243133.1:c.3006-137delC;NM_001243133.1:c.3006-137delCinsCTT;NM_004895.4:c.3012-137delC;NM_004895.4:c.3012-137delCinsCTT;NM_183395.2:c.2670-137delC;NM_183395.2:c.2670-137delCinsCTT 103502447 77267710 JWB-4013141 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 HGSV 114548 NC_000001.10:g.247611571delT;NG_007509.2:g.37097delT;NM_001079821.2:c.3012-136delT;NM_001127461.2:c.2841-136delT;NM_001127462.2:c.2841-136delT;NM_001243133.1:c.3006-136delT;NM_004895.4:c.3012-136delT;NM_183395.2:c.2670-136delT 80764676 58966539 Cor12878_DIV_20070510.chr1_243937632-243937634_1 2007.11.26 2007.11.26 2007.12.15 2011.07.08 137 HGSV 114548 NC_000001.10:g.247611571_247611572delTT;NG_007509.2:g.37097_37098delTT;NM_001079821.2:c.3012-136_3012-135delTT;NM_001127461.2:c.2841-136_2841-135delTT;NM_001127462.2:c.2841-136_2841-135delTT;NM_001243133.1:c.3006-136_3006-135delTT;NM_004895.4:c.3012-136_3012-135delTT;NM_183395.2:c.2670-136_2670-135delTT 82831658 59675460 Cor19240_DIV_20070510.chr1_243937631-243937634_1 2007.12.03 2007.12.03 2007.12.15 2011.07.08 137 HGSV 114548 NC_000001.10:g.247611571_247611572delTT;NG_007509.2:g.37097_37098delTT;NM_001079821.2:c.3012-136_3012-135delTT;NM_001127461.2:c.2841-136_2841-135delTT;NM_001127462.2:c.2841-136_2841-135delTT;NM_001243133.1:c.3006-136_3006-135delTT;NM_004895.4:c.3012-136_3012-135delTT;NM_183395.2:c.2670-136_2670-135delTT 82921177 59675460 Cor19240_DIV_20070510.chr1_243937631-243937634_2 2007.12.03 2007.12.03 2007.12.15 2011.07.08 137 HGSV 114548 NC_000001.10:g.247611571_247611572delTT;NG_007509.2:g.37097_37098delTT;NM_001079821.2:c.3012-136_3012-135delTT;NM_001127461.2:c.2841-136_2841-135delTT;NM_001127462.2:c.2841-136_2841-135delTT;NM_001243133.1:c.3006-136_3006-135delTT;NM_004895.4:c.3012-136_3012-135delTT;NM_183395.2:c.2670-136_2670-135delTT 82928452 59675460 Cor19240_DIV_20070510.chr1_243937631-243937634_3 2007.12.03 2007.12.03 2007.12.15 2011.07.08 137 PJP 114548 NC_000001.10:g.247611571delT;NG_007509.2:g.37097delT;NM_001079821.2:c.3012-136delT;NM_001127461.2:c.2841-136delT;NM_001127462.2:c.2841-136delT;NM_001243133.1:c.3006-136delT;NM_004895.4:c.3012-136delT;NM_183395.2:c.2670-136delT 294636733 58966539 DIP_74437_chr1_245678215 2011.01.21 2011.01.21 2007.12.15 2011.07.08 137 CSHL-HAPMAP 114548 NC_000001.10:g.247611601G>A;NG_007509.2:g.37127G>A;NM_001079821.2:c.3012-106G>A;NM_001127461.2:c.2841-106G>A;NM_001127462.2:c.2841-106G>A;NM_001243133.1:c.3006-106G>A;NM_004895.4:c.3012-106G>A;NM_183395.2:c.2670-106G>A 16391629 11577525 CSHL-HuAA-200402.chr1.NT_004836.15_12274965 2004.02.17 2004.03.04 2004.02.28 2011.09.09 137 ABI 114548 NC_000001.10:g.247611601G>A;NG_007509.2:g.37127G>A;NM_001079821.2:c.3012-106G>A;NM_001127461.2:c.2841-106G>A;NM_001127462.2:c.2841-106G>A;NM_001243133.1:c.3006-106G>A;NM_004895.4:c.3012-106G>A;NM_183395.2:c.2670-106G>A 41082708 11577525 hCV30713883 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 HGSV 114548 NC_000001.10:g.247611601G>A;NG_007509.2:g.37127G>A;NM_001079821.2:c.3012-106G>A;NM_001127461.2:c.2841-106G>A;NM_001127462.2:c.2841-106G>A;NM_001243133.1:c.3006-106G>A;NM_004895.4:c.3012-106G>A;NM_183395.2:c.2670-106G>A 84735295 11577525 Cor19240_SNV_20070510.chr1_243937642 2007.12.07 2007.12.07 2004.02.28 2011.09.09 137 GSK-GENETICS 114548 NC_000001.10:g.247611658A>T;NG_007509.2:g.37184A>T;NM_001079821.2:c.3012-49A>T;NM_001127461.2:c.2841-49A>T;NM_001127462.2:c.2841-49A>T;NM_001243133.1:c.3006-49A>T;NM_004895.4:c.3012-49A>T;NM_183395.2:c.2670-49A>T 491238298 201236692 chr1_245678281 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611659C>G;NG_007509.2:g.37185C>G;NM_001079821.2:c.3012-48C>G;NM_001127461.2:c.2841-48C>G;NM_001127462.2:c.2841-48C>G;NM_001243133.1:c.3006-48C>G;NM_004895.4:c.3012-48C>G;NM_183395.2:c.2670-48C>G 491238299 202116222 chr1_245678282 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247611660_247611661delAG;NG_007509.2:g.37186_37187delAG;NM_001079821.2:c.3012-47_3012-46delAG;NM_001127461.2:c.2841-47_2841-46delAG;NM_001127462.2:c.2841-47_2841-46delAG;NM_001243133.1:c.3006-47_3006-46delAG;NM_004895.4:c.3012-47_3012-46delAG;NM_183395.2:c.2670-47_2670-46delAG 499190938 201053423 20110316_indels_chr1_247611659_247611660 2.88e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247611661G>C;NG_007509.2:g.37187G>C;NM_001079821.2:c.3012-46G>C;NM_001127461.2:c.2841-46G>C;NM_001127462.2:c.2841-46G>C;NM_001243133.1:c.3006-46G>C;NM_004895.4:c.3012-46G>C;NM_183395.2:c.2670-46G>C 491238300 200228646 chr1_245678284 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611662A>T;NG_007509.2:g.37188A>T;NM_001079821.2:c.3012-45A>T;NM_001127461.2:c.2841-45A>T;NM_001127462.2:c.2841-45A>T;NM_001243133.1:c.3006-45A>T;NM_004895.4:c.3012-45A>T;NM_183395.2:c.2670-45A>T 491238301 200935353 chr1_245678285 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611666A>T;NG_007509.2:g.37192A>T;NM_001079821.2:c.3012-41A>T;NM_001127461.2:c.2841-41A>T;NM_001127462.2:c.2841-41A>T;NM_001243133.1:c.3006-41A>T;NM_004895.4:c.3012-41A>T;NM_183395.2:c.2670-41A>T 491238302 202073308 chr1_245678289 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 114548 NC_000001.10:g.247611746G>A;NG_007509.2:g.37272G>A;NM_001079821.2:c.3051G>A;NM_001127461.2:c.2880G>A;NM_001127462.2:c.2880G>A;NM_001243133.1:c.3045G>A;NM_004895.4:c.3051G>A;NM_183395.2:c.2709G>A;NP_001073289.1:p.Ala1017=;NP_001120933.1:p.Ala960=;NP_001120934.1:p.Ala960=;NP_001230062.1:p.Ala1015=;NP_004886.3:p.Ala1017=;NP_899632.1:p.Ala903= 342040961 139995782 ESP2500-chr1-247611746 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 114548 NC_000001.10:g.247611749A>C;NG_007509.2:g.37275A>C;NM_001079821.2:c.3054A>C;NM_001127461.2:c.2883A>C;NM_001127462.2:c.2883A>C;NM_001243133.1:c.3048A>C;NM_004895.4:c.3054A>C;NM_183395.2:c.2712A>C;NP_001073289.1:p.Leu1018Phe;NP_001120933.1:p.Leu961Phe;NP_001120934.1:p.Leu961Phe;NP_001230062.1:p.Leu1016Phe;NP_004886.3:p.Leu1018Phe;NP_899632.1:p.Leu904Phe 342040962 143548979 ESP2500-chr1-247611749 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247611749A>C;NG_007509.2:g.37275A>C;NM_001079821.2:c.3054A>C;NM_001127461.2:c.2883A>C;NM_001127462.2:c.2883A>C;NM_001243133.1:c.3048A>C;NM_004895.4:c.3054A>C;NM_183395.2:c.2712A>C;NP_001073289.1:p.Leu1018Phe;NP_001120933.1:p.Leu961Phe;NP_001120934.1:p.Leu961Phe;NP_001230062.1:p.Leu1016Phe;NP_004886.3:p.Leu1018Phe;NP_899632.1:p.Leu904Phe 491238303 143548979 chr1_245678372 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 114548 NC_000001.10:g.247611749A>C;NG_007509.2:g.37275A>C;NM_001079821.2:c.3054A>C;NM_001127461.2:c.2883A>C;NM_001127462.2:c.2883A>C;NM_001243133.1:c.3048A>C;NM_004895.4:c.3054A>C;NM_183395.2:c.2712A>C;NP_001073289.1:p.Leu1018Phe;NP_001120933.1:p.Leu961Phe;NP_001120934.1:p.Leu961Phe;NP_001230062.1:p.Leu1016Phe;NP_004886.3:p.Leu1018Phe;NP_899632.1:p.Leu904Phe 491313845 143548979 nonsyn_30072_chr_1_247611749 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GEH 114548 NM_001079821.2:c.3088_3089insG NC_000001.10:g.247611783_247611784insG;NG_007509.2:g.37309_37310insG;NM_001079821.2:c.3088_3089insG;NM_001127461.2:c.2917_2918insG;NM_001127462.2:c.2917_2918insG;NM_001243133.1:c.3082_3083insG;NM_004895.4:c.3088_3089insG;NM_183395.2:c.2746_2747insG;NP_001073289.1:p.Val1030delinsGlyArgfs;NP_001120933.1:p.Val973delinsGlyArgfs;NP_001120934.1:p.Val973delinsGlyArgfs;NP_001230062.1:p.Val1028delinsGlyArgfs;NP_004886.3:p.Val1030delinsGlyArgfs;NP_899632.1:p.Val916delinsGlyArgfs 506396381 199475738 NLRP3:29687 germline untested 2012.04.03 2012.04.03 2012.04.03 2012.09.29 137 GSK-GENETICS 114548 NC_000001.10:g.247611785C>T;NG_007509.2:g.37311C>T;NM_001079821.2:c.3090C>T;NM_001127461.2:c.2919C>T;NM_001127462.2:c.2919C>T;NM_001243133.1:c.3084C>T;NM_004895.4:c.3090C>T;NM_183395.2:c.2748C>T;NP_001073289.1:p.Val1030=;NP_001120933.1:p.Val973=;NP_001120934.1:p.Val973=;NP_001230062.1:p.Val1028=;NP_004886.3:p.Val1030=;NP_899632.1:p.Val916= 491238304 201532680 chr1_245678408 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611817G>C;NG_007509.2:g.37343G>C;NM_001079821.2:c.*11G>C;NM_001127461.2:c.*11G>C;NM_001127462.2:c.*11G>C;NM_001243133.1:c.*11G>C;NM_004895.4:c.*11G>C;NM_183395.2:c.*11G>C 491238305 199538597 chr1_245678440 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611873G>C;NG_007509.2:g.37399G>C;NM_001079821.2:c.*67G>C;NM_001127461.2:c.*67G>C;NM_001127462.2:c.*67G>C;NM_001243133.1:c.*67G>C;NM_004895.4:c.*67G>C;NM_183395.2:c.*67G>C 491238306 200345581 chr1_245678496 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611897A>G;NG_007509.2:g.37423A>G;NM_001079821.2:c.*91A>G;NM_001127461.2:c.*91A>G;NM_001127462.2:c.*91A>G;NM_001243133.1:c.*91A>G;NM_004895.4:c.*91A>G;NM_183395.2:c.*91A>G 491238307 201578083 chr1_245678520 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611922G>T;NG_007509.2:g.37448G>T;NM_001079821.2:c.*116G>T;NM_001127461.2:c.*116G>T;NM_001127462.2:c.*116G>T;NM_001243133.1:c.*116G>T;NM_004895.4:c.*116G>T;NM_183395.2:c.*116G>T 491238308 199713471 chr1_245678545 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611952G>C;NC_000001.10:g.247611952G>T;NG_007509.2:g.37478G>C;NG_007509.2:g.37478G>T;NM_001079821.2:c.*146G>C;NM_001079821.2:c.*146G>T;NM_001127461.2:c.*146G>C;NM_001127461.2:c.*146G>T;NM_001127462.2:c.*146G>C;NM_001127462.2:c.*146G>T;NM_001243133.1:c.*146G>C;NM_001243133.1:c.*146G>T;NM_004895.4:c.*146G>C;NM_004895.4:c.*146G>T;NM_183395.2:c.*146G>C;NM_183395.2:c.*146G>T 491238309 200993953 chr1_245678575 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247611960C>T;NG_007509.2:g.37486C>T;NM_001079821.2:c.*154C>T;NM_001127461.2:c.*154C>T;NM_001127462.2:c.*154C>T;NM_001243133.1:c.*154C>T;NM_004895.4:c.*154C>T;NM_183395.2:c.*154C>T 491238310 201362511 chr1_245678583 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HGSV 114548 NC_000001.10:g.247611982delC;NG_007509.2:g.37508delC;NM_001079821.2:c.*176delC;NM_001127461.2:c.*176delC;NM_001127462.2:c.*176delC;NM_001243133.1:c.*176delC;NM_004895.4:c.*176delC;NM_183395.2:c.*176delC 83402627 60418626 Cor18517_DIV_20070510.chr1_243938023-243938025_1 9.75e-02 2007.12.04 2007.12.04 2007.12.16 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247611982delC;NG_007509.2:g.37508delC;NM_001079821.2:c.*176delC;NM_001127461.2:c.*176delC;NM_001127462.2:c.*176delC;NM_001243133.1:c.*176delC;NM_004895.4:c.*176delC;NM_183395.2:c.*176delC 193163338 60418626 BUSHMAN-chr1-245678604-245678605 9.75e-02 2010.02.16 2010.02.16 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611982delC;NG_007509.2:g.37508delC;NM_001079821.2:c.*176delC;NM_001127461.2:c.*176delC;NM_001127462.2:c.*176delC;NM_001243133.1:c.*176delC;NM_004895.4:c.*176delC;NM_183395.2:c.*176delC 326164576 60418626 CEU_chr1_245678604_indel 9.75e-02 2011.03.11 2011.04.01 2007.12.16 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247611982delC;NG_007509.2:g.37508delC;NM_001079821.2:c.*176delC;NM_001127461.2:c.*176delC;NM_001127462.2:c.*176delC;NM_001243133.1:c.*176delC;NM_004895.4:c.*176delC;NM_183395.2:c.*176delC 326215366 60418626 YRI_chr1_245678604_indel 9.75e-02 2011.03.11 2011.04.02 2007.12.16 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247611982C>T;NG_007509.2:g.37508C>T;NM_001079821.2:c.*176C>T;NM_001127461.2:c.*176C>T;NM_001127462.2:c.*176C>T;NM_001243133.1:c.*176C>T;NM_004895.4:c.*176C>T;NM_183395.2:c.*176C>T 491238311 199662465 chr1_245678605 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247611982delC;NG_007509.2:g.37508delC;NM_001079821.2:c.*176delC;NM_001127461.2:c.*176delC;NM_001127462.2:c.*176delC;NM_001243133.1:c.*176delC;NM_004895.4:c.*176delC;NM_183395.2:c.*176delC 499190943 60418626 20110316_indels_chr1_247611981_247611981 9.75e-02 2012.03.19 2012.03.19 2007.12.16 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611983C>T;NG_007509.2:g.37509C>T;NM_001079821.2:c.*177C>T;NM_001127461.2:c.*177C>T;NM_001127462.2:c.*177C>T;NM_001243133.1:c.*177C>T;NM_004895.4:c.*177C>T;NM_183395.2:c.*177C>T 480896687 200546439 HumanOmni2.5-4v1_D_kgp15610072-0_T_R_1837156810 2012.01.31 2012.01.31 2012.05.04 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247611983C>T;NG_007509.2:g.37509C>T;NM_001079821.2:c.*177C>T;NM_001127461.2:c.*177C>T;NM_001127462.2:c.*177C>T;NM_001243133.1:c.*177C>T;NM_004895.4:c.*177C>T;NM_183395.2:c.*177C>T 482298496 200546439 HumanOmni2.5-4v1_B_SNP1-245678606-0_T_R_1631150734 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247611983C>T;NG_007509.2:g.37509C>T;NM_001079821.2:c.*177C>T;NM_001127461.2:c.*177C>T;NM_001127462.2:c.*177C>T;NM_001243133.1:c.*177C>T;NM_004895.4:c.*177C>T;NM_183395.2:c.*177C>T 491238312 200546439 chr1_245678606 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612001A>G;NG_007509.2:g.37527A>G;NM_001079821.2:c.*195A>G;NM_001127461.2:c.*195A>G;NM_001127462.2:c.*195A>G;NM_001243133.1:c.*195A>G;NM_004895.4:c.*195A>G;NM_183395.2:c.*195A>G 491238313 201584114 chr1_245678624 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612016T>C;NG_007509.2:g.37542T>C;NM_001079821.2:c.*210T>C;NM_001127461.2:c.*210T>C;NM_001127462.2:c.*210T>C;NM_001243133.1:c.*210T>C;NM_004895.4:c.*210T>C;NM_183395.2:c.*210T>C 491238314 199852199 chr1_245678639 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 ABI 114548 NC_000001.10:g.247612026_247612027insG;NG_007509.2:g.37552_37553insG;NM_001079821.2:c.*220_*221insG;NM_001127461.2:c.*220_*221insG;NM_001127462.2:c.*220_*221insG;NM_001243133.1:c.*220_*221insG;NM_004895.4:c.*220_*221insG;NM_183395.2:c.*220_*221insG 41067789 34222187 hCV32484953 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 SC_SNP 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 15387412 10754558 NT_004836.15_12275400 3.56e-01 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 16393938 10754558 CSHL-HuAA-200402.chr1.NT_004836.15_12275400 3.56e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 18145762 10754558 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12275400 3.56e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 19102724 10754558 CSHL-HuDD-200402.chr1.NT_004836.15_12275400 3.56e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 44022564 10754558 hCV26052028 3.56e-01 2005.07.18 2006.11.03 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 65744897 10754558 Human1-rs10754558 3.56e-01 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 68800576 10754558 PGP06253965 3.56e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 85285091 10754558 Cor19240_SNV_20070510.chr1_243938077 3.56e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 86209238 10754558 Cor18517_SNV_20070510.chr1_243938077 3.56e-01 2007.12.11 2007.12.11 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 88051349 10754558 JWB-0217820 3.56e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 BGI 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 106647996 10754558 BGI_rs10754558 3.56e-01 2008.09.17 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 109136664 10754558 CEU.trio.12.15.2008_293465_chr1_245678659 3.56e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 112114761 10754558 NA19240_2008_12_16_266159_chr1_245678659 3.56e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 119287825 10754558 NA18507_000265643_NCBI36.1_chr1_245678659 3.56e-01 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 138194297 10754558 ENSSNP6130650 3.56e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 138997890 10754558 ENSSNP197730 3.56e-01 2009.05.18 2009.10.16 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 156564161 10754558 GMI_SNP_118217227 3.56e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 159915581 10754558 HumanOmni1-Quad_v1-0_B_rs10754558-128_B_R_1562582750 3.56e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 165636791 10754558 NA19240_36_chr1_245678659 3.56e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 167597278 10754558 NA20431_36_chr1_245678659 3.56e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 199904157 10754558 BUSHMAN-chr1-245678658 3.56e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 205403769 10754558 BCM_CMT_1011-180855 3.56e-01 2010.03.15 2010.03.15 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 219005765 10754558 pilot_1_YRI_815448_chr1_245678659 3.56e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 230995549 10754558 pilot_1_CEU_600178_chr1_245678659 3.56e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 238590504 10754558 pilot_1_CHB+JPT_475581_chr1_245678659 3.56e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 244269920 10754558 CVDSNP55v1_A_rs10754558 3.56e-01 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 253949145 10754558 SNP242715_1_245678659 3.56e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 276310610 10754558 GMI_AK_SNP_630777 3.56e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 290789478 10754558 SNP_295836_chr1_245678659 3.56e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 479728217 10754558 HumanOmni1-Quad_v1-0_C_rs10754558-131_B_R_1858958222 3.56e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 482298499 10754558 HumanOmni2.5-4v1_B_SNP1-245678659-0_B_R_1633285695 3.56e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 483139703 10754558 HumanOmni2.5-4v1_D_kgp3266416-0_B_R_1821291223 3.56e-01 2012.02.02 2012.02.02 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612036G>C;NG_007509.2:g.37562G>C;NM_001079821.2:c.*230G>C;NM_001127461.2:c.*230G>C;NM_001127462.2:c.*230G>C;NM_001243133.1:c.*230G>C;NM_004895.4:c.*230G>C;NM_183395.2:c.*230G>C 491238315 10754558 chr1_245678659 3.56e-01 2012.03.02 2012.03.02 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612046C>T;NG_007509.2:g.37572C>T;NM_001079821.2:c.*240C>T;NM_001127461.2:c.*240C>T;NM_001127462.2:c.*240C>T;NM_001243133.1:c.*240C>T;NM_004895.4:c.*240C>T;NM_183395.2:c.*240C>T 491238316 201976642 chr1_245678669 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247612075G>C;NG_007509.2:g.37601G>C;NM_001079821.2:c.*269G>C;NM_001127461.2:c.*269G>C;NM_001127462.2:c.*269G>C;NM_001243133.1:c.*269G>C;NM_004895.4:c.*269G>C;NM_183395.2:c.*269G>C 454808231 186013529 20101123_snps_975461_chr1_247612075 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GSK-GENETICS 114548 NC_000001.10:g.247612082T>A;NG_007509.2:g.37608T>A;NM_001079821.2:c.*276T>A;NM_001127461.2:c.*276T>A;NM_001127462.2:c.*276T>A;NM_001243133.1:c.*276T>A;NM_004895.4:c.*276T>A;NM_183395.2:c.*276T>A 491238317 200086498 chr1_245678705 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612105C>T;NG_007509.2:g.37631C>T;NM_001079821.2:c.*299C>T;NM_001127461.2:c.*299C>T;NM_001127462.2:c.*299C>T;NM_001243133.1:c.*299C>T;NM_004895.4:c.*299C>T;NM_183395.2:c.*299C>T 491238318 201212590 chr1_245678728 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612136C>T;NG_007509.2:g.37662C>T;NM_001079821.2:c.*330C>T;NM_001127461.2:c.*330C>T;NM_001127462.2:c.*330C>T;NM_001243133.1:c.*330C>T;NM_004895.4:c.*330C>T;NM_183395.2:c.*330C>T 491238319 201977331 chr1_245678759 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 BUSHMAN 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 193163340 112877668 BUSHMAN-chr1-245678774-245678774 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 BL 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 255981180 112877668 SNP15683_1_245678774 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 288119552 112877668 GMI_AK_INDEL_90642 2010.12.21 2011.12.23 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 326158641 112877668 JPTCHB_chr1_245678774_indel 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 326164581 112877668 CEU_chr1_245678774_indel 2011.03.11 2011.04.01 2010.07.04 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612150_247612151insT;NG_007509.2:g.37676_37677insT;NM_001079821.2:c.*344_*345insT;NM_001127461.2:c.*344_*345insT;NM_001127462.2:c.*344_*345insT;NM_001243133.1:c.*344_*345insT;NM_004895.4:c.*344_*345insT;NM_183395.2:c.*344_*345insT 326215369 112877668 YRI_chr1_245678774_indel 2011.03.11 2011.04.02 2010.07.04 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612151C>T;NG_007509.2:g.37677C>T;NM_001079821.2:c.*345C>T;NM_001127461.2:c.*345C>T;NM_001127462.2:c.*345C>T;NM_001243133.1:c.*345C>T;NM_004895.4:c.*345C>T;NM_183395.2:c.*345C>T 491238320 199942390 chr1_245678774 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 ABI 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 41341457 34691535 hCV32484952 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 82059422 34691535 Cor19129_DIV_20070510.chr1_243938198-243938199_1 2007.12.02 2007.12.02 2006.03.14 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 83402633 34691535 Cor18517_DIV_20070510.chr1_243938198-243938199_1 2007.12.04 2007.12.04 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 95261594 34691535 1104685304943 2008.03.21 2008.12.02 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 99344431 34691535 INDEL_GP36_2007a_877938_0 2008.05.05 2008.05.05 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 100387455 34691535 INDEL_GP36_2008a_877938_1 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 100387458 34691535 INDEL_GP36_2008a_877938_2 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 100387461 34691535 INDEL_GP36_2008a_877938_3 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 100387463 34691535 INDEL_GP36_2008a_877938_4 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 100387466 34691535 INDEL_GP36_2008a_877938_5 2008.05.16 2008.05.16 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 102309078 34691535 INDEL_GP36_2008a_935444_0 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 102309080 34691535 INDEL_GP36_2008a_935444_1 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 102309083 34691535 INDEL_GP36_2008a_935444_2 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 GMI 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 287692046 34691535 GMI_NA10851_INDEL_24674 2010.12.18 2010.12.20 2006.03.14 2012.11.28 137 PJP 114548 NC_000001.10:g.247612152_247612153insT;NG_007509.2:g.37678_37679insT;NM_001079821.2:c.*346_*347insT;NM_001127461.2:c.*346_*347insT;NM_001127462.2:c.*346_*347insT;NM_001243133.1:c.*346_*347insT;NM_004895.4:c.*346_*347insT;NM_183395.2:c.*346_*347insT 294636734 34691535 DIP_74438_chr1_245678775 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612158C>T;NG_007509.2:g.37684C>T;NM_001079821.2:c.*352C>T;NM_001127461.2:c.*352C>T;NM_001127462.2:c.*352C>T;NM_001243133.1:c.*352C>T;NM_004895.4:c.*352C>T;NM_183395.2:c.*352C>T 491238321 201091974 chr1_245678781 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612159T>C;NG_007509.2:g.37685T>C;NM_001079821.2:c.*353T>C;NM_001127461.2:c.*353T>C;NM_001127462.2:c.*353T>C;NM_001243133.1:c.*353T>C;NM_004895.4:c.*353T>C;NM_183395.2:c.*353T>C 491238322 202120193 chr1_245678782 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GMI 114548 NC_000001.10:g.247612160T>C;NG_007509.2:g.37686T>C;NM_001079821.2:c.*354T>C;NM_001127461.2:c.*354T>C;NM_001127462.2:c.*354T>C;NM_001243133.1:c.*354T>C;NM_004895.4:c.*354T>C;NM_183395.2:c.*354T>C 276310611 201615792 GMI_AK_SNP_630778 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612201A>G;NG_007509.2:g.37727A>G;NM_001079821.2:c.*395A>G;NM_001127461.2:c.*395A>G;NM_001127462.2:c.*395A>G;NM_001243133.1:c.*395A>G;NM_004895.4:c.*395A>G;NM_183395.2:c.*395A>G 491238323 200635180 chr1_245678824 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SC_SNP 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 15418961 10802501 NT_004836.15_12275566 1.39e-01 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 16404304 10802501 CSHL-HuAA-200402.chr1.NT_004836.15_12275566 1.39e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 18156100 10802501 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12275566 1.39e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 44069882 10802501 hCV26052027 1.39e-01 2005.07.18 2006.11.03 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 65744982 10802501 Human1-rs10802501 1.39e-01 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 68800577 10802501 PGP05317268 1.39e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 109136667 10802501 CEU.trio.12.15.2008_293466_chr1_245678825 1.39e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 112114769 10802501 NA19240_2008_12_16_266160_chr1_245678825 1.39e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 138194298 10802501 ENSSNP11747600 1.39e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 159922931 10802501 HumanOmni1-Quad_v1-0_B_rs10802501-128_T_F_1562583483 1.39e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 165636799 10802501 NA19240_36_chr1_245678825 1.39e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 199904161 10802501 BUSHMAN-chr1-245678824 1.39e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 219005766 10802501 pilot_1_YRI_815449_chr1_245678825 1.39e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 230995550 10802501 pilot_1_CEU_600179_chr1_245678825 1.39e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 238590505 10802501 pilot_1_CHB+JPT_475582_chr1_245678825 1.39e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 244270244 10802501 CVDSNP55v1_A_rs10802501 1.39e-01 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 276310612 10802501 GMI_AK_SNP_630779 1.39e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 290789479 10802501 SNP_295837_chr1_245678825 1.39e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 479757665 10802501 HumanOmni1-Quad_v1-0_C_rs10802501-131_T_F_1858958208 1.39e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612202T>A;NG_007509.2:g.37728T>A;NM_001079821.2:c.*396T>A;NM_001127461.2:c.*396T>A;NM_001127462.2:c.*396T>A;NM_001243133.1:c.*396T>A;NM_004895.4:c.*396T>A;NM_183395.2:c.*396T>A 491238324 10802501 chr1_245678825 1.39e-01 2012.03.02 2012.03.02 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612207C>T;NG_007509.2:g.37733C>T;NM_001079821.2:c.*401C>T;NM_001127461.2:c.*401C>T;NM_001127462.2:c.*401C>T;NM_001243133.1:c.*401C>T;NM_004895.4:c.*401C>T;NM_183395.2:c.*401C>T 491238325 202197399 chr1_245678830 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612217A>G;NG_007509.2:g.37743A>G;NM_001079821.2:c.*411A>G;NM_001127461.2:c.*411A>G;NM_001127462.2:c.*411A>G;NM_001243133.1:c.*411A>G;NM_004895.4:c.*411A>G;NM_183395.2:c.*411A>G 491238326 200307362 chr1_245678840 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612270A>G;NG_007509.2:g.37796A>G;NM_001079821.2:c.*464A>G;NM_001127461.2:c.*464A>G;NM_001127462.2:c.*464A>G;NM_001243133.1:c.*464A>G;NM_004895.4:c.*464A>G;NM_183395.2:c.*464A>G 491238327 201249220 chr1_245678893 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612272T>G;NG_007509.2:g.37798T>G;NM_001079821.2:c.*466T>G;NM_001127461.2:c.*466T>G;NM_001127462.2:c.*466T>G;NM_001243133.1:c.*466T>G;NM_004895.4:c.*466T>G;NM_183395.2:c.*466T>G 491238328 199529920 chr1_245678895 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SC_SNP 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 15387413 10802502 NT_004836.15_12275659 4.96e-01 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 18184806 10802502 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12275659 4.96e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 18277879 10802502 SC-CHR1_NA07340-200402.chr1.NT_004836.15_12275659 4.96e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 20521775 10802502 WGSA-200403-chr1.chr1.NT_004836.15_12275659 4.96e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 44118354 10802502 hCV26052026 4.96e-01 2005.07.18 2005.07.18 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 85816431 10802502 Cor19129_SNV_20070510.chr1_243938336 4.96e-01 2007.12.10 2007.12.10 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 88051351 10802502 JWB-0217821 4.96e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 99306032 10802502 1103675395172 4.96e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 112114778 10802502 NA19240_2008_12_16_266161_chr1_245678918 4.96e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 119287826 10802502 NA18507_000265644_NCBI36.1_chr1_245678918 4.96e-01 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 138194299 10802502 ENSSNP11747601 4.96e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 144149658 10802502 ENSSNP5553816 4.96e-01 2009.06.06 2009.10.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 156564166 10802502 GMI_SNP_72148404 4.96e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 165636809 10802502 NA19240_36_chr1_245678918 4.96e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 199904165 10802502 BUSHMAN-chr1-245678917 4.96e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 219005769 10802502 pilot_1_YRI_815452_chr1_245678918 4.96e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 230995552 10802502 pilot_1_CEU_600181_chr1_245678918 4.96e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 238590508 10802502 pilot_1_CHB+JPT_475585_chr1_245678918 4.96e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 253949148 10802502 SNP242716_1_245678918 4.96e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 276310613 10802502 GMI_AK_SNP_630780 4.96e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 290789480 10802502 SNP_295838_chr1_245678918 4.96e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 482298502 10802502 HumanOmni2.5-4v1_B_SNP1-245678918-0_T_R_1613005319 4.96e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 482758697 10802502 HumanOmni2.5-4v1_D_kgp22785521-0_T_R_1860543877 4.96e-01 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612295C>T;NG_007509.2:g.37821C>T;NM_001079821.2:c.*489C>T;NM_001127461.2:c.*489C>T;NM_001127462.2:c.*489C>T;NM_001243133.1:c.*489C>T;NM_004895.4:c.*489C>T;NM_183395.2:c.*489C>T 491238329 10802502 chr1_245678918 4.96e-01 2012.03.02 2012.03.02 2004.02.27 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612340T>C;NG_007509.2:g.37866T>C;NM_001079821.2:c.*534T>C;NM_001127461.2:c.*534T>C;NM_001127462.2:c.*534T>C;NM_001243133.1:c.*534T>C;NM_004895.4:c.*534T>C;NM_183395.2:c.*534T>C 491238330 201153241 chr1_245678963 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 114548 NC_000001.10:g.247612359T>C;NG_007509.2:g.37885T>C;NM_001079821.2:c.*553T>C;NM_001127461.2:c.*553T>C;NM_001127462.2:c.*553T>C;NM_001243133.1:c.*553T>C;NM_004895.4:c.*553T>C;NM_183395.2:c.*553T>C 491238331 199716596 chr1_245678982 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 114548 NC_000001.10:g.247612434T>A;NG_007509.2:g.37960T>A;NM_001079821.2:c.*628T>A;NM_001127461.2:c.*628T>A;NM_001127462.2:c.*628T>A;NM_001243133.1:c.*628T>A;NM_004895.4:c.*628T>A;NM_183395.2:c.*628T>A 454808232 190777402 20101123_snps_975462_chr1_247612434 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 6810014 4925547 NT_031730.6_400655 4.15e-01 2003.02.14 2003.10.10 2003.02.20 2012.11.28 137 PERLEGEN 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 23870305 4925547 afd4629977 4.15e-01 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ABI 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 43933914 4925547 hCV26052025 4.15e-01 2005.07.18 2005.07.18 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 99306033 4925547 1103675395173 4.15e-01 2008.04.03 2008.04.03 2003.02.20 2012.11.28 137 BGI 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 106647997 4925547 BGI_rs4925547 4.15e-01 2008.09.17 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 109136671 4925547 CEU.trio.12.15.2008_293467_chr1_245679058 4.15e-01 2008.12.16 2008.12.16 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 156564173 4925547 GMI_SNP_118252434 4.15e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 205431899 4925547 BCM_CMT_1011-194951 4.15e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 219005770 4925547 pilot_1_YRI_815453_chr1_245679058 4.15e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 230995553 4925547 pilot_1_CEU_600182_chr1_245679058 4.15e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 238590509 4925547 pilot_1_CHB+JPT_475586_chr1_245679058 4.15e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 276310614 4925547 GMI_AK_SNP_630781 4.15e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 290789481 4925547 SNP_295839_chr1_245679058 4.15e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612435A>T;NG_007509.2:g.37961A>T;NM_001079821.2:c.*629A>T;NM_001127461.2:c.*629A>T;NM_001127462.2:c.*629A>T;NM_001243133.1:c.*629A>T;NM_004895.4:c.*629A>T;NM_183395.2:c.*629A>T 491238332 4925547 chr1_245679058 4.15e-01 2012.03.02 2012.03.02 2003.02.20 2012.11.28 137 GSK-GENETICS 114548 NC_000001.10:g.247612441C>T;NG_007509.2:g.37967C>T;NM_001079821.2:c.*635C>T;NM_001127461.2:c.*635C>T;NM_001127462.2:c.*635C>T;NM_001243133.1:c.*635C>T;NM_004895.4:c.*635C>T;NM_183395.2:c.*635C>T 491238333 201642505 chr1_245679064 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SC_SNP 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 15418962 10925027 NT_004836.15_12275926 4.72e-01 2003.11.14 2006.10.25 2004.02.27 2012.11.28 137 SC_SNP 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 18156448 10925027 SC-CHR1_NA17109-200402.chr1.NT_004836.15_12275926 4.72e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 82088598 10925027 Cor18555_SNV_20070510.chr1_243938603 4.72e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 82657783 10925027 Cor19240_SNV_20070510.chr1_243938603 4.72e-01 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 HGSV 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 84756966 10925027 Cor19129_SNV_20070510.chr1_243938603 4.72e-01 2007.12.07 2007.12.07 2004.02.27 2012.11.28 137 BCMHGSC_JDW 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 88051353 10925027 JWB-0217822 4.72e-01 2008.02.27 2008.02.27 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 99306034 10925027 1103675395174 4.72e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 109136676 10925027 CEU.trio.12.15.2008_293468_chr1_245679185 4.72e-01 2008.12.16 2008.12.16 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 112114787 10925027 NA19240_2008_12_16_266162_chr1_245679185 4.72e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 119287829 10925027 NA18507_000265645_NCBI36.1_chr1_245679185 4.72e-01 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 ENSEMBL 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 138194300 10925027 ENSSNP6179965 4.72e-01 2009.05.17 2009.05.17 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 156564182 10925027 GMI_SNP_36280591 4.72e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 165636817 10925027 NA19240_36_chr1_245679185 4.72e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 165962041 10925027 NA07022_36_chr1_245679185 4.72e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 199904169 10925027 BUSHMAN-chr1-245679184 4.72e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 219005771 10925027 pilot_1_YRI_815454_chr1_245679185 4.72e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 230995554 10925027 pilot_1_CEU_600183_chr1_245679185 4.72e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 238590510 10925027 pilot_1_CHB+JPT_475587_chr1_245679185 4.72e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 276310615 10925027 GMI_AK_SNP_630782 4.72e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 290789482 10925027 SNP_295840_chr1_245679185 4.72e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 114548 NC_000001.10:g.247612562T>C;NG_007509.2:g.38088T>C;NM_001079821.2:c.*756T>C;NM_001127461.2:c.*756T>C;NM_001127462.2:c.*756T>C;NM_001243133.1:c.*756T>C;NM_004895.4:c.*756T>C;NM_183395.2:c.*756T>C 479409082 10925027 HumanOmniExpress-12v1_C_rs10925027-131_T_R_1858880611 4.72e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612570A>G;NG_007509.2:g.38096A>G;NM_001079821.2:c.*764A>G;NM_001127461.2:c.*764A>G;NM_001127462.2:c.*764A>G;NM_001243133.1:c.*764A>G;NM_004895.4:c.*764A>G;NM_183395.2:c.*764A>G 329363900 150473004 20100804_snps_1007436_chr1_247612570 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612596G>A;NG_007509.2:g.38122G>A;NM_001079821.2:c.*790G>A;NM_001127461.2:c.*790G>A;NM_001127462.2:c.*790G>A;NM_001243133.1:c.*790G>A;NM_004895.4:c.*790G>A;NM_183395.2:c.*790G>A 230995555 78841190 pilot_1_CEU_600184_chr1_245679219 5.17e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 ILLUMINA-UK 114548 NC_000001.10:g.247612716C>G;NG_007509.2:g.38242C>G;NM_001079821.2:c.*910C>G;NM_001127461.2:c.*910C>G;NM_001127462.2:c.*910C>G;NM_001243133.1:c.*910C>G;NM_004895.4:c.*910C>G;NM_183395.2:c.*910C>G 119287830 74154651 NA18507_000265646_NCBI36.1_chr1_245679339 4.10e-03 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612716C>G;NG_007509.2:g.38242C>G;NM_001079821.2:c.*910C>G;NM_001127461.2:c.*910C>G;NM_001127462.2:c.*910C>G;NM_001243133.1:c.*910C>G;NM_004895.4:c.*910C>G;NM_183395.2:c.*910C>G 329363901 74154651 20100804_snps_1007437_chr1_247612716 4.10e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 1000GENOMES 114548 NC_000001.10:g.247612729C>T;NG_007509.2:g.38255C>T;NM_001079821.2:c.*923C>T;NM_001127461.2:c.*923C>T;NM_001127462.2:c.*923C>T;NM_001243133.1:c.*923C>T;NM_004895.4:c.*923C>T;NM_183395.2:c.*923C>T 329363902 149601996 20100804_snps_1007438_chr1_247612729 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612745A>G;NG_007509.2:g.38271A>G;NM_001079821.2:c.*939A>G;NM_001127461.2:c.*939A>G;NM_001127462.2:c.*939A>G;NM_001243133.1:c.*939A>G;NM_004895.4:c.*939A>G;NM_183395.2:c.*939A>G 219005772 114218884 pilot_1_YRI_815455_chr1_245679368 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612769T>C;NG_007509.2:g.38295T>C;NM_001079821.2:c.*963T>C;NM_001127461.2:c.*963T>C;NM_001127462.2:c.*963T>C;NM_001243133.1:c.*963T>C;NM_004895.4:c.*963T>C;NM_183395.2:c.*963T>C 454808233 181971493 20101123_snps_975463_chr1_247612769 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 114548 NC_000001.10:g.247612794G>T;NG_007509.2:g.38320G>T;NM_001079821.2:c.*988G>T;NM_001127461.2:c.*988G>T;NM_001127462.2:c.*988G>T;NM_001243133.1:c.*988G>T;NM_004895.4:c.*988G>T;NM_183395.2:c.*988G>T 79942780 61618517 Cor18507_SNV_20070510.chr1_243938835 4.30e-02 2007.11.24 2007.11.24 2007.12.16 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612794G>T;NG_007509.2:g.38320G>T;NM_001079821.2:c.*988G>T;NM_001127461.2:c.*988G>T;NM_001127462.2:c.*988G>T;NM_001243133.1:c.*988G>T;NM_004895.4:c.*988G>T;NM_183395.2:c.*988G>T 112114797 61618517 NA19240_2008_12_16_266163_chr1_245679417 4.30e-02 2008.12.17 2008.12.17 2007.12.16 2011.09.09 137 ILLUMINA-UK 114548 NC_000001.10:g.247612794G>T;NG_007509.2:g.38320G>T;NM_001079821.2:c.*988G>T;NM_001127461.2:c.*988G>T;NM_001127462.2:c.*988G>T;NM_001243133.1:c.*988G>T;NM_004895.4:c.*988G>T;NM_183395.2:c.*988G>T 119287832 61618517 NA18507_000265647_NCBI36.1_chr1_245679417 4.30e-02 2009.01.22 2009.01.22 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 114548 NC_000001.10:g.247612794G>T;NG_007509.2:g.38320G>T;NM_001079821.2:c.*988G>T;NM_001127461.2:c.*988G>T;NM_001127462.2:c.*988G>T;NM_001243133.1:c.*988G>T;NM_004895.4:c.*988G>T;NM_183395.2:c.*988G>T 165636826 61618517 NA19240_36_chr1_245679417 4.30e-02 2009.09.30 2009.09.30 2007.12.16 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612794G>T;NG_007509.2:g.38320G>T;NM_001079821.2:c.*988G>T;NM_001127461.2:c.*988G>T;NM_001127462.2:c.*988G>T;NM_001243133.1:c.*988G>T;NM_004895.4:c.*988G>T;NM_183395.2:c.*988G>T 219005773 61618517 pilot_1_YRI_815456_chr1_245679417 4.30e-02 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 1000GENOMES 114548 NC_000001.10:g.247612883G>A;NG_007509.2:g.38409G>A;NM_001079821.2:c.*1077G>A;NM_001127461.2:c.*1077G>A;NM_001127462.2:c.*1077G>A;NM_001243133.1:c.*1077G>A;NM_004895.4:c.*1077G>A;NM_183395.2:c.*1077G>A 329363903 143956244 20100804_snps_1007439_chr1_247612883 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 # Report date: 2013.2.9, Gene: NLRP3 (114548), ss count: 4113, rs count: 1269.