# 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 TSC-CSHL 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 1303062 1108085 TSC0210888 1.53e-01 2000.09.06 2006.10.25 2000.10.13 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 5624272 1108085 NT_010194.12_357152 1.53e-01 2003.01.10 2003.10.10 2000.10.13 2012.11.28 137 DEVINE_LAB 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 7873499 1108085 DB_1_171551 1.53e-01 2003.03.16 2003.10.10 2000.10.13 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 10789297 1108085 chr15.NT_010194.15_16173967 1.53e-01 2003.06.30 2003.10.10 2000.10.13 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 23462712 1108085 afd3557728 1.53e-01 2004.08.20 2004.09.13 2000.10.13 2012.11.28 137 ABI 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 43718193 1108085 hCV26909505 1.53e-01 2005.07.18 2005.07.18 2000.10.13 2012.11.28 137 HGSV 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 83084986 1108085 Cor19240_SNV_20070510.chr15_43171648 1.53e-01 2007.12.04 2007.12.04 2000.10.13 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 114102946 1108085 NA19240_2008_12_16_2830332_chr15_43171648 1.53e-01 2008.12.18 2008.12.18 2000.10.13 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 118207853 1108085 NA18507_000028050_NCBI36.1_chr15_43171648 1.53e-01 2009.01.20 2009.01.20 2000.10.13 2012.11.28 137 GMI 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 156481081 1108085 GMI_SNP_35477805 1.53e-01 2009.06.25 2009.06.25 2000.10.13 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 159955830 1108085 HumanOmni1-Quad_v1-0_B_rs1108085-128_B_F_1572948185 1.53e-01 2009.08.04 2009.10.01 2000.10.13 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 169303680 1108085 NA19240_36_chr15_43171648 1.53e-01 2009.10.01 2009.10.01 2000.10.13 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 200783744 1108085 BUSHMAN-chr15-43171647 1.53e-01 2010.03.07 2010.03.07 2000.10.13 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 226867341 1108085 pilot_1_YRI_8677024_chr15_43171648 1.53e-01 2010.04.22 2010.04.22 2000.10.13 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 236760741 1108085 pilot_1_CEU_6365370_chr15_43171648 1.53e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 243150631 1108085 pilot_1_CHB+JPT_5035708_chr15_43171648 1.53e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 BL 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 254944438 1108085 SNP28182_15_43171648 1.53e-01 2010.08.19 2010.08.19 2000.10.13 2012.11.28 137 GMI 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 282235982 1108085 GMI_AK_SNP_6556381 1.53e-01 2010.12.16 2010.12.16 2000.10.13 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384356T>C;NG_009447.1:g.27004A>G;NM_014080.4:c.*1992A>G 479889319 1108085 HumanOmni1-Quad_v1-0_C_rs1108085-131_B_F_1863303610 1.53e-01 2012.01.31 2012.01.31 2000.10.13 2012.11.28 137 GMI 50506 NC_000015.9:g.45384380A>G;NG_009447.1:g.26980T>C;NM_014080.4:c.*1968T>C 156481088 78874501 GMI_SNP_132427997 1.65e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384380A>G;NG_009447.1:g.26980T>C;NM_014080.4:c.*1968T>C 226867342 78874501 pilot_1_YRI_8677025_chr15_43171672 1.65e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384380A>G;NG_009447.1:g.26980T>C;NM_014080.4:c.*1968T>C 243150632 78874501 pilot_1_CHB+JPT_5035709_chr15_43171672 1.65e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45384380A>G;NG_009447.1:g.26980T>C;NM_014080.4:c.*1968T>C 282235983 78874501 GMI_AK_SNP_6556382 1.65e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45384382T>C;NG_009447.1:g.26978A>G;NM_014080.4:c.*1966A>G 156481094 76904461 GMI_SNP_132164553 1.74e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384382T>C;NG_009447.1:g.26978A>G;NM_014080.4:c.*1966A>G 226867343 76904461 pilot_1_YRI_8677026_chr15_43171674 1.74e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384382T>C;NG_009447.1:g.26978A>G;NM_014080.4:c.*1966A>G 243150633 76904461 pilot_1_CHB+JPT_5035710_chr15_43171674 1.74e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45384382T>C;NG_009447.1:g.26978A>G;NM_014080.4:c.*1966A>G 282235984 76904461 GMI_AK_SNP_6556383 1.74e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384563T>C;NG_009447.1:g.26797A>G;NM_014080.4:c.*1785A>G 226867344 80067923 pilot_1_YRI_8677027_chr15_43171855 2.66e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384563T>C;NG_009447.1:g.26797A>G;NM_014080.4:c.*1785A>G 482045834 80067923 HumanOmni2.5-4v1_D_kgp19980836-0_T_R_1833858571 2.66e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384563T>C;NG_009447.1:g.26797A>G;NM_014080.4:c.*1785A>G 483395440 80067923 HumanOmni2.5-4v1_B_SNP15-43171855-0_T_R_1640314426 2.66e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 10796621 7180106 chr15.NT_010194.15_16174276 1.54e-01 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 75177703 7180106 ILMN_Human_1M_rs7180106 1.54e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 82857733 7180106 Cor19240_SNV_20070510.chr15_43171957 1.54e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 114102954 7180106 NA19240_2008_12_16_2830333_chr15_43171957 1.54e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 118207855 7180106 NA18507_000028051_NCBI36.1_chr15_43171957 1.54e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 119545113 7180106 KHS1707360 1.54e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 156481102 7180106 GMI_SNP_71057658 1.54e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 169303698 7180106 NA19240_36_chr15_43171957 1.54e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 174277102 7180106 Human1M-Duov3_B_rs7180106-128_B_F_1514150792 1.54e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 200783748 7180106 BUSHMAN-chr15-43171956 1.54e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 226867345 7180106 pilot_1_YRI_8677028_chr15_43171957 1.54e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 236760742 7180106 pilot_1_CEU_6365371_chr15_43171957 1.54e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 254944443 7180106 SNP28183_15_43171957 1.54e-01 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45384665G>T;NG_009447.1:g.26695C>A;NM_014080.4:c.*1683C>A 282235985 7180106 GMI_AK_SNP_6556384 1.54e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45384750C>T;NG_009447.1:g.26610G>A;NM_014080.4:c.*1598G>A 338746253 141360384 20100804_snps_10389794_chr15_45384750 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45384908A>G;NG_009447.1:g.26452T>C;NM_014080.4:c.*1440T>C 338746254 143328703 20100804_snps_10389795_chr15_45384908 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45384938G>A;NG_009447.1:g.26422C>T;NM_014080.4:c.*1410C>T 338746255 151177662 20100804_snps_10389796_chr15_45384938 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45385024G>C;NG_009447.1:g.26336C>G;NM_014080.4:c.*1324C>G 338746256 140186774 20100804_snps_10389797_chr15_45385024 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45385132C>T;NG_009447.1:g.26228G>A;NM_014080.4:c.*1216G>A 464140713 187205500 20101123_snps_10307943_chr15_45385132 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45385134A>T;NG_009447.1:g.26226T>A;NM_014080.4:c.*1214T>A 338746257 150309333 20100804_snps_10389798_chr15_45385134 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 50506 NC_000015.9:g.45385152_45385153insG;NG_009447.1:g.26207_26208insC;NM_014080.4:c.*1195_*1196insC 40623167 34733422 hCV33987872 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45385203G>A;NG_009447.1:g.26157C>T;NM_014080.4:c.*1145C>T 464140714 191997510 20101123_snps_10307944_chr15_45385203 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45385284C>T;NG_009447.1:g.26076G>A;NM_014080.4:c.*1064G>A 236760743 117341314 pilot_1_CEU_6365372_chr15_43172576 9.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ABI 50506 NC_000015.9:g.45385322_45385323insG;NG_009447.1:g.26037_26038insC;NM_014080.4:c.*1025_*1026insC 40584151 35707717 hCV33987873 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45385434C>A;NG_009447.1:g.25926G>T;NM_014080.4:c.*914G>T 338746258 137909525 20100804_snps_10389799_chr15_45385434 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 6588973 4775744 NT_010194.13_358296 2.11e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 12310258 4775744 chr15.NT_010194.15_16175107 2.11e-01 2003.07.04 2006.10.25 2003.02.20 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 23462721 4775744 afd3557722 2.11e-01 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 HGSV 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 81373156 4775744 Cor18507_SNV_20070510.chr15_43172788 2.11e-01 2007.11.29 2007.11.29 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 114102963 4775744 NA19240_2008_12_16_2830334_chr15_43172788 2.11e-01 2008.12.18 2008.12.18 2003.02.20 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 118207857 4775744 NA18507_000028052_NCBI36.1_chr15_43172788 2.11e-01 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 GMI 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 156481107 4775744 GMI_SNP_35757425 2.11e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 169303714 4775744 NA19240_36_chr15_43172788 2.11e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 171024937 4775744 NA20431_36_chr15_43172788 2.11e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 200783751 4775744 BUSHMAN-chr15-43172787 2.11e-01 2010.03.07 2010.03.07 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 207276096 4775744 BCM_CMT_1011-2725012 2.11e-01 2010.03.18 2010.03.18 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 226867346 4775744 pilot_1_YRI_8677029_chr15_43172788 2.11e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 236760744 4775744 pilot_1_CEU_6365373_chr15_43172788 2.11e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 254944448 4775744 SNP28184_15_43172788 2.11e-01 2010.08.19 2010.08.19 2003.02.20 2012.11.28 137 GMI 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 282235986 4775744 GMI_AK_SNP_6556385 2.11e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 50506 NC_000015.9:g.45385496A>T;NG_009447.1:g.25864T>A;NM_014080.4:c.*852T>A 291828615 4775744 SNP_1334973_chr15_43172788 2.11e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 12310877 8024922 chr15.NT_010194.15_16175237 9.75e-02 2003.07.04 2006.10.25 2003.07.11 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 23462727 8024922 afd4242377 9.75e-02 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 75038634 8024922 ILMN_Human_1M_rs8024922 9.75e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 78625339 8024922 Cor18507_SNV_20070510.chr15_43172918 9.75e-02 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 114102970 8024922 NA19240_2008_12_16_2830335_chr15_43172918 9.75e-02 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 118207860 8024922 NA18507_000028053_NCBI36.1_chr15_43172918 9.75e-02 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 119580348 8024922 KHS1742595 9.75e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 156481116 8024922 GMI_SNP_70937583 9.75e-02 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 160941060 8024922 HumanOmni1-Quad_v1-0_B_rs8024922-128_T_R_1514018166 9.75e-02 2009.08.07 2009.10.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 169303731 8024922 NA19240_36_chr15_43172918 9.75e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 171024947 8024922 NA20431_36_chr15_43172918 9.75e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 174676449 8024922 Human1M-Duov3_B_rs8024922-128_T_R_1514018166 9.75e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 226867347 8024922 pilot_1_YRI_8677030_chr15_43172918 9.75e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 236760745 8024922 pilot_1_CEU_6365374_chr15_43172918 9.75e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 243150634 8024922 pilot_1_CHB+JPT_5035711_chr15_43172918 9.75e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 254944452 8024922 SNP28185_15_43172918 9.75e-02 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 282235987 8024922 GMI_AK_SNP_6556386 9.75e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 291828616 8024922 SNP_1334974_chr15_43172918 9.75e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 481756172 8024922 HumanOmni2.5-4v1_B_rs8024922-128_T_R_1514018166 9.75e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 481788228 8024922 HumanOmniExpress-12v1_C_rs8024922-131_T_R_1857462596 9.75e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 482751759 8024922 HumanOmni1-Quad_v1-0_C_rs8024922-131_T_R_1865213344 9.75e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385626C>T;NG_009447.1:g.25734G>A;NM_014080.4:c.*722G>A 485672836 8024922 HumanOmni2.5-4v1_D_rs8024922-131_T_R_1857462596 9.75e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 YUSUKE 50506 NC_000015.9:g.45385683C>T;NG_009447.1:g.25677G>A;NM_014080.4:c.*665G>A 4929228 3743221 IMS-JST094450 5.00e-04 2002.07.29 2008.03.31 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385683C>T;NG_009447.1:g.25677G>A;NM_014080.4:c.*665G>A 160634659 3743221 HumanOmni1-Quad_v1-0_B_rs3743221-128_B_F_1562648832 5.00e-04 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385683C>T;NG_009447.1:g.25677G>A;NM_014080.4:c.*665G>A 243150635 3743221 pilot_1_CHB+JPT_5035712_chr15_43172975 5.00e-04 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385683C>T;NG_009447.1:g.25677G>A;NM_014080.4:c.*665G>A 481753463 3743221 HumanOmni1-Quad_v1-0_C_rs3743221-131_B_F_1863356858 5.00e-04 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385724G>A;NG_009447.1:g.25636C>T;NM_014080.4:c.*624C>T 338746259 143376422 20100804_snps_10389800_chr15_45385724 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 15436436 11070441 NT_010194.16_16176314 2.01e-02 2003.11.14 2006.10.25 2004.02.27 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 18220680 11070441 SC-CHR1_NA17109-200402.chr15.NT_010194.16_16176314 2.01e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 23462735 11070441 afd3557720 2.01e-02 2004.08.20 2004.09.13 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 75028220 11070441 ILMN_Human_1M_rs11070441 2.01e-02 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 119664435 11070441 KHS1799926 2.01e-02 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 159953996 11070441 HumanOmni1-Quad_v1-0_B_rs11070441-128_T_F_1513985795 2.01e-02 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 170985730 11070441 Human1M-Duov3_B_rs11070441-128_T_F_1513985795 2.01e-02 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 226867348 11070441 pilot_1_YRI_8677031_chr15_43173049 2.01e-02 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 479450644 11070441 HumanOmni2.5-4v1_B_rs11070441-128_T_F_1513985795 2.01e-02 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 479454531 11070441 HumanOmniExpress-12v1_C_rs11070441-131_T_F_1857218496 2.01e-02 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 479881973 11070441 HumanOmni1-Quad_v1-0_C_rs11070441-131_T_F_1865399970 2.01e-02 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 482043942 11070441 HumanOmni2.5-4v1_D_kgp19973638-0_T_F_1833827179 2.01e-02 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 483395442 11070441 HumanOmni2.5-4v1_B_SNP15-43173049-0_T_F_1643702418 2.01e-02 2012.02.02 2012.02.02 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385757G>A;NG_009447.1:g.25603C>T;NM_014080.4:c.*591C>T 484525058 11070441 HumanOmni2.5-4v1_D_rs11070441-131_T_F_1857218496 2.01e-02 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 18797547 12324044 SC-CHR9-12_NA17119-200402.chr15.NT_010194.16_16176427 7.46e-02 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 23462743 12324044 afd3557719 7.46e-02 2004.08.20 2004.09.13 2004.02.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 75056856 12324044 ILMN_Human_1M_rs12324044 7.46e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 114102980 12324044 NA19240_2008_12_16_2830336_chr15_43173162 7.46e-02 2008.12.18 2008.12.18 2004.02.28 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 118207861 12324044 NA18507_000028054_NCBI36.1_chr15_43173162 7.46e-02 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 119770691 12324044 KHS1839994 7.46e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 169303751 12324044 NA19240_36_chr15_43173162 7.46e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 172006065 12324044 Human1M-Duov3_B_rs12324044-128_T_R_1514027569 7.46e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 200783756 12324044 BUSHMAN-chr15-43173161 7.46e-02 2010.03.07 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 226867349 12324044 pilot_1_YRI_8677032_chr15_43173162 7.46e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 482043456 12324044 HumanOmni2.5-4v1_D_kgp19971825-0_B_F_1833819553 7.46e-02 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385870C>T;NG_009447.1:g.25490G>A;NM_014080.4:c.*478G>A 483395444 12324044 HumanOmni2.5-4v1_B_SNP15-43173162-0_B_F_1639330972 7.46e-02 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 YUSUKE 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 4929229 3743222 IMS-JST094451 8.97e-02 2002.07.29 2003.10.10 2002.08.28 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 15436437 3743222 NT_010194.16_16176452 8.97e-02 2003.11.14 2006.10.25 2002.08.28 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 23462755 3743222 afd3557717 8.97e-02 2004.08.20 2004.09.13 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 67703289 3743222 HumanHap650Yv1.0_rs3743222 8.97e-02 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 71353456 3743222 HumanHap650Yv3.0_rs3743222 8.97e-02 2007.04.23 2007.04.23 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 75398907 3743222 ILMN_Human_1M_rs3743222 8.97e-02 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 114102988 3743222 NA19240_2008_12_16_2830337_chr15_43173187 8.97e-02 2008.12.18 2008.12.18 2002.08.28 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 118207863 3743222 NA18507_000028055_NCBI36.1_chr15_43173187 8.97e-02 2009.01.20 2009.01.20 2002.08.28 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 119458686 3743222 KHS1620933 8.97e-02 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 156481123 3743222 GMI_SNP_35588628 8.97e-02 2009.06.25 2009.06.25 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 160634660 3743222 HumanOmni1-Quad_v1-0_B_rs3743222-128_T_F_1502356736 8.97e-02 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 169303760 3743222 NA19240_36_chr15_43173187 8.97e-02 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 171024957 3743222 NA20431_36_chr15_43173187 8.97e-02 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 173619133 3743222 Human1M-Duov3_B_rs3743222-128_T_F_1502356736 8.97e-02 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 200783760 3743222 BUSHMAN-chr15-43173186 8.97e-02 2010.03.07 2010.03.07 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 226867350 3743222 pilot_1_YRI_8677033_chr15_43173187 8.97e-02 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 236760746 3743222 pilot_1_CEU_6365375_chr15_43173187 8.97e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 243150636 3743222 pilot_1_CHB+JPT_5035713_chr15_43173187 8.97e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 254944459 3743222 SNP28186_15_43173187 8.97e-02 2010.08.19 2010.08.19 2002.08.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 282235988 3743222 GMI_AK_SNP_6556387 8.97e-02 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 480809797 3743222 HumanOmni2.5-4v1_B_rs3743222-128_T_F_1502356736 8.97e-02 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 480825490 3743222 HumanOmniExpress-12v1_C_rs3743222-131_T_F_1857472676 8.97e-02 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 481753467 3743222 HumanOmni1-Quad_v1-0_C_rs3743222-131_T_F_1865646042 8.97e-02 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385895A>G;NG_009447.1:g.25465T>C;NM_014080.4:c.*453T>C 485199718 3743222 HumanOmni2.5-4v1_D_rs3743222-131_T_F_1857472676 8.97e-02 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385908G>A;NG_009447.1:g.25452C>T;NM_014080.4:c.*440C>T 338746260 146207683 20100804_snps_10389801_chr15_45385908 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 15436438 10851420 NT_010194.16_16176473 2.03e-01 2003.11.14 2006.10.25 2004.02.27 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 18220679 10851420 SC-CHR1_NA17109-200402.chr15.NT_010194.16_16176473 2.03e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 18797548 10851420 SC-CHR9-12_NA17119-200402.chr15.NT_010194.16_16176473 2.03e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 23462767 10851420 afd3557716 2.03e-01 2004.08.20 2004.09.13 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 65736666 10851420 Human1-rs10851420 2.03e-01 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 74977996 10851420 ILMN_Human_1M_rs10851420 2.03e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 114102996 10851420 NA19240_2008_12_16_2830338_chr15_43173208 2.03e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 118207865 10851420 NA18507_000028056_NCBI36.1_chr15_43173208 2.03e-01 2009.01.20 2009.01.20 2004.02.27 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 119643972 10851420 KHS1792345 2.03e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 GMI 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 156481130 10851420 GMI_SNP_70935880 2.03e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 159929516 10851420 HumanOmni1-Quad_v1-0_B_rs10851420-128_B_F_1513918944 2.03e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 169303778 10851420 NA19240_36_chr15_43173208 2.03e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 170644756 10851420 Human1M-Duov3_B_rs10851420-128_B_F_1513918944 2.03e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 171024967 10851420 NA20431_36_chr15_43173208 2.03e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 200783764 10851420 BUSHMAN-chr15-43173207 2.03e-01 2010.03.07 2010.03.07 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 226867351 10851420 pilot_1_YRI_8677034_chr15_43173208 2.03e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 236760747 10851420 pilot_1_CEU_6365376_chr15_43173208 2.03e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 243150637 10851420 pilot_1_CHB+JPT_5035714_chr15_43173208 2.03e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 254944465 10851420 SNP28187_15_43173208 2.03e-01 2010.08.19 2010.08.19 2004.02.27 2012.11.28 137 GMI 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 282235989 10851420 GMI_AK_SNP_6556388 2.03e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 479376556 10851420 HumanOmni2.5-4v1_B_rs10851420-128_B_F_1513918944 2.03e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 479379726 10851420 HumanOmniExpress-12v1_C_rs10851420-131_B_F_1857161879 2.03e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 479783906 10851420 HumanOmni1-Quad_v1-0_C_rs10851420-131_B_F_1865472689 2.03e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45385916C>T;NG_009447.1:g.25444G>A;NM_014080.4:c.*432G>A 484488395 10851420 HumanOmni2.5-4v1_D_rs10851420-131_B_F_1857161879 2.03e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45385930A>G;NG_009447.1:g.25430T>C;NM_014080.4:c.*418T>C 464140715 183535338 20101123_snps_10307945_chr15_45385930 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45386062C>T;NG_009447.1:g.25298G>A;NM_014080.4:c.*286G>A 200783768 112227045 BUSHMAN-chr15-43173353 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45386086T>C;NG_009447.1:g.25274A>G;NM_014080.4:c.*262A>G 338746261 138906942 20100804_snps_10389802_chr15_45386086 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45386240C>T;NG_009447.1:g.25120G>A;NM_014080.4:c.*108G>A 464140716 187587870 20101123_snps_10307946_chr15_45386240 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45386311G>A;NG_009447.1:g.25049C>T;NM_014080.4:c.*37C>T 226867352 75163715 pilot_1_YRI_8677035_chr15_43173603 2.93e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386311G>A;NG_009447.1:g.25049C>T;NM_014080.4:c.*37C>T 482030516 75163715 HumanOmni2.5-4v1_D_kgp19925154-0_T_F_1833640843 2.93e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386311G>A;NG_009447.1:g.25049C>T;NM_014080.4:c.*37C>T 483395446 75163715 HumanOmni2.5-4v1_B_SNP15-43173603-0_T_F_1639369071 2.93e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386311G>A;NG_009447.1:g.25049C>T;NM_014080.4:c.*37C>T 491082206 75163715 20110521_exome_590004_chr15_45386311 2.93e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386358T>C;NG_009447.1:g.25002A>G;NM_014080.4:c.4637A>G;NP_054799.4:p.Glu1546Gly 491493975 201229193 nonsyn_210201_chr_15_45386358 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45386358T>C;NG_009447.1:g.25002A>G;NM_014080.4:c.4637A>G;NP_054799.4:p.Glu1546Gly 491700053 201229193 SNV-chr15-43173650 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386392T>C;NG_009447.1:g.24968A>G;NM_014080.4:c.4603A>G;NP_054799.4:p.Arg1535Gly 489048610 200382889 20110521_exome_198023_chr15_45386392 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386392T>C;NG_009447.1:g.24968A>G;NM_014080.4:c.4603A>G;NP_054799.4:p.Arg1535Gly 491493976 200382889 nonsyn_210202_chr_15_45386392 9.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45386420A>G;NG_009447.1:g.24940T>C;NM_014080.4:c.4575T>C;NP_054799.4:p.Asn1525= 342402513 145877502 ESP2500-chr15-45386420 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45386428T>C;NG_009447.1:g.24932A>G;NM_014080.4:c.4567A>G;NP_054799.4:p.Thr1523Ala 338746262 149306918 20100804_snps_10389803_chr15_45386428 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386428T>C;NG_009447.1:g.24932A>G;NM_014080.4:c.4567A>G;NP_054799.4:p.Thr1523Ala 491082207 149306918 20110521_exome_590005_chr15_45386428 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386444G>A;NG_009447.1:g.24916C>T;NM_014080.4:c.4551C>T;NP_054799.4:p.Cys1517= 489048612 201793284 20110521_exome_198024_chr15_45386444 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386456C>G;NG_009447.1:g.24904G>C;NM_014080.4:c.4539G>C;NP_054799.4:p.Gly1513= 489048614 201720469 20110521_exome_198025_chr15_45386456 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45386467G>A;NG_009447.1:g.24893C>T;NM_014080.4:c.4528C>T;NP_054799.4:p.Arg1510Cys 342402514 147791097 ESP2500-chr15-45386467 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386467G>A;NG_009447.1:g.24893C>T;NM_014080.4:c.4528C>T;NP_054799.4:p.Arg1510Cys 491493977 147791097 nonsyn_210203_chr_15_45386467 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 10780159 7171366 chr15.NT_010194.15_16176267 2.04e-01 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 23462776 7171366 afd3557715 2.04e-01 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 67550751 7171366 HumanHap550v1.1_rs7171366 2.04e-01 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 67925354 7171366 HumanHap650Yv1.0_rs7171366 2.04e-01 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 68271655 7171366 HumanHap250Sv1.0_rs7171366 2.04e-01 2006.12.06 2006.12.07 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 70913420 7171366 HumanHap550v3.0__rs7171366 2.04e-01 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 71511560 7171366 HumanHap650Yv3.0_rs7171366 2.04e-01 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 75510797 7171366 ILMN_Human_1M_rs7171366 2.04e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 83964438 7171366 Cor19240_SNV_20070510.chr15_43173948 2.04e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 84629943 7171366 KHS763236 2.04e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 114102999 7171366 NA19240_2008_12_16_2830339_chr15_43173948 2.04e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 118207868 7171366 NA18507_000028057_NCBI36.1_chr15_43173948 2.04e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 154409715 7171366 Human610_Quadv1_B_rs7171366-128_B_F_1502255934 2.04e-01 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 156481137 7171366 GMI_SNP_132027760 2.04e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 159584819 7171366 Human660W-Quad_v1_A_rs7171366-128_B_F_1502255934 2.04e-01 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 160855627 7171366 HumanOmni1-Quad_v1-0_B_rs7171366-128_B_F_1502255934 2.04e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 169303792 7171366 NA19240_36_chr15_43173948 2.04e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 171024975 7171366 NA20431_36_chr15_43173948 2.04e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 174272996 7171366 Human1M-Duov3_B_rs7171366-128_B_F_1502255934 2.04e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 200783771 7171366 BUSHMAN-chr15-43173947 2.04e-01 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 226867353 7171366 pilot_1_YRI_8677036_chr15_43173948 2.04e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 236760748 7171366 pilot_1_CEU_6365377_chr15_43173948 2.04e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 243150638 7171366 pilot_1_CHB+JPT_5035715_chr15_43173948 2.04e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 254944471 7171366 SNP28188_15_43173948 2.04e-01 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 282235990 7171366 GMI_AK_SNP_6556389 2.04e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 291828617 7171366 SNP_1334975_chr15_43173948 2.04e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45386656T>G;NG_009447.1:g.24704A>C;NM_014080.4:c.4524+105A>C 482496369 7171366 HumanOmni1-Quad_v1-0_C_rs7171366-131_B_F_1863180865 2.04e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45386668C>T;NG_009447.1:g.24692G>A;NM_014080.4:c.4524+93G>A 10777694 7170066 chr15.NT_010194.15_16176279 2.30e-03 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386668C>T;NG_009447.1:g.24692G>A;NM_014080.4:c.4524+93G>A 226867354 7170066 pilot_1_YRI_8677037_chr15_43173960 2.30e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386670C>G;NG_009447.1:g.24690G>C;NM_014080.4:c.4524+91G>C 464140717 191703167 20101123_snps_10307947_chr15_45386670 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 50506 NC_000015.9:g.45386771A>G;NG_009447.1:g.24589T>C;NM_014080.4:c.4514T>C;NP_054799.4:p.Val1505Ala 342402515 140111307 ESP2500-chr15-45386771 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 HGSV 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 78798737 56323146 Cor18507_SNV_20070510.chr15_43174098 6.96e-02 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 HGSV 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 82713306 56323146 Cor19240_SNV_20070510.chr15_43174098 6.96e-02 2007.12.03 2007.12.03 2007.12.07 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 114103010 56323146 NA19240_2008_12_16_2830340_chr15_43174098 6.96e-02 2008.12.18 2008.12.18 2007.12.07 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 118207869 56323146 NA18507_000028058_NCBI36.1_chr15_43174098 6.96e-02 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 156481146 56323146 GMI_SNP_117160300 6.96e-02 2009.06.25 2009.06.25 2007.12.07 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 159730599 56323146 DUOX2-43174098 6.96e-02 2009.07.10 2009.07.10 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 169303811 56323146 NA19240_36_chr15_43174098 6.96e-02 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 171024979 56323146 NA20431_36_chr15_43174098 6.96e-02 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 200783776 56323146 BUSHMAN-chr15-43174097 6.96e-02 2010.03.07 2010.03.07 2007.12.07 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 226867355 56323146 pilot_1_YRI_8677038_chr15_43174098 6.96e-02 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 236760749 56323146 pilot_1_CEU_6365378_chr15_43174098 6.96e-02 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 254944476 56323146 SNP28189_15_43174098 6.96e-02 2010.08.19 2010.08.19 2007.12.07 2012.11.28 137 GMI 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 282235991 56323146 GMI_AK_SNP_6556390 6.96e-02 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 342402516 56323146 ESP2500-chr15-45386806 6.96e-02 2011.03.26 2011.03.26 2007.12.07 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 491082208 56323146 20110521_exome_590006_chr15_45386806 6.96e-02 2012.02.22 2012.02.22 2007.12.07 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45386806G>C;NG_009447.1:g.24554C>G;NM_014080.4:c.4479C>G;NP_054799.4:p.Pro1493= 491700054 56323146 SNV-chr15-43174098 6.96e-02 2012.03.06 2012.03.13 2007.12.07 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386810C>T;NG_009447.1:g.24550G>A;NM_014080.4:c.4475G>A;NP_054799.4:p.Arg1492His 338746263 144543420 20100804_snps_10389804_chr15_45386810 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386810C>T;NG_009447.1:g.24550G>A;NM_014080.4:c.4475G>A;NP_054799.4:p.Arg1492His 491493978 144543420 nonsyn_210204_chr_15_45386810 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45386810C>T;NG_009447.1:g.24550G>A;NM_014080.4:c.4475G>A;NP_054799.4:p.Arg1492His 491700055 144543420 SNV-chr15-43174102 5.00e-04 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45386876C>T;NG_009447.1:g.24484G>A;NM_014080.4:c.4409G>A;NP_054799.4:p.Arg1470Gln 342402517 138103904 ESP2500-chr15-45386876 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386876C>T;NG_009447.1:g.24484G>A;NM_014080.4:c.4409G>A;NP_054799.4:p.Arg1470Gln 491493979 138103904 nonsyn_210205_chr_15_45386876 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45386877G>A;NG_009447.1:g.24483C>T;NM_014080.4:c.4408C>T;NP_054799.4:p.Arg1470Trp 489048616 200785525 20110521_exome_198026_chr15_45386877 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45386877G>A;NG_009447.1:g.24483C>T;NM_014080.4:c.4408C>T;NP_054799.4:p.Arg1470Trp 491493980 200785525 nonsyn_210206_chr_15_45386877 9.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45386881G>A;NG_009447.1:g.24479C>T;NM_014080.4:c.4404C>T;NP_054799.4:p.Cys1468= 342402518 149535976 ESP2500-chr15-45386881 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45386882C>T;NG_009447.1:g.24478G>A;NM_014080.4:c.4403G>A;NP_054799.4:p.Cys1468Tyr 342402519 143154243 ESP2500-chr15-45386882 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45386928G>A;NG_009447.1:g.24432C>T;NM_014080.4:c.4396-39C>T 464140718 182797527 20101123_snps_10307948_chr15_45386928 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45387046C>T;NG_009447.1:g.24314G>A;NM_014080.4:c.4395+88G>A 200783780 113739971 BUSHMAN-chr15-43174337 1.80e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387046C>T;NG_009447.1:g.24314G>A;NM_014080.4:c.4395+88G>A 338746264 113739971 20100804_snps_10389805_chr15_45387046 1.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387047C>T;NG_009447.1:g.24313G>A;NM_014080.4:c.4395+87G>A 338746265 141471840 20100804_snps_10389806_chr15_45387047 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45387154C>T;NG_009447.1:g.24206G>A;NM_014080.4:c.4375G>A;NP_054799.4:p.Asp1459Asn 489048618 199546504 20110521_exome_198027_chr15_45387154 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387209G>C;NG_009447.1:g.24151C>G;NM_014080.4:c.4320C>G;NP_054799.4:p.Asp1440Glu 226867356 115865111 pilot_1_YRI_8677039_chr15_43174501 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387209G>C;NG_009447.1:g.24151C>G;NM_014080.4:c.4320C>G;NP_054799.4:p.Asp1440Glu 491082209 115865111 20110521_exome_590007_chr15_45387209 2.30e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45387209G>C;NG_009447.1:g.24151C>G;NM_014080.4:c.4320C>G;NP_054799.4:p.Asp1440Glu 491493981 115865111 nonsyn_210207_chr_15_45387209 2.30e-03 2012.03.05 2012.03.05 2010.07.14 2012.11.28 137 GOLDSTEINLAB 50506 ARRAY(0x7f303850) 507880327 201359292 15_43174538_T 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 EXOME_CHIP 50506 NC_000015.9:g.45387256G>C;NG_009447.1:g.24104C>G;NM_014080.4:c.4273C>G;NP_054799.4:p.Gln1425Glu 491493982 202111673 nonsyn_210208_chr_15_45387256 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 50506 NC_000015.9:g.45387267C>T;NG_009447.1:g.24093G>A;NM_014080.4:c.4262G>A;NP_054799.4:p.Arg1421Gln 342402520 138680550 ESP2500-chr15-45387267 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45387273A>T;NG_009447.1:g.24087T>A;NM_014080.4:c.4256T>A;NP_054799.4:p.Val1419Glu 342402521 141695502 ESP2500-chr15-45387273 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45387389A>C;NG_009447.1:g.23971T>G;NM_014080.4:c.4240-100T>G 200783784 111280439 BUSHMAN-chr15-43174680 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45387389A>C;NG_009447.1:g.23971T>G;NM_014080.4:c.4240-100T>G 338746266 111280439 20100804_snps_10389807_chr15_45387389 1.47e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 KWOK 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 261791 199138 OVLP-000621-114852 2.51e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 1012946 199138 OVLP-000804-210674 2.51e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 2060815 199138 OVLP-000925-696878 2.51e-01 2000.10.07 2004.04.07 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 3585389 199138 AC009700.4_136642 2.51e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 21282731 199138 WGSA-200403-chr15.chr15.NT_010194.16_16178107 2.51e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 43796968 199138 hCV2409595 2.51e-01 2005.07.18 2006.11.03 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 75105137 199138 ILMN_Human_1M_rs199138 2.51e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 77307773 199138 Cor12156_SNV_20070510.chr15_43174842 2.51e-01 2007.10.10 2007.10.12 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 82542022 199138 Cor18956_SNV_20070510.chr15_43174842 2.51e-01 2007.12.03 2007.12.03 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 90140348 199138 JWB-0849078 2.51e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 96754634 199138 1103645599691 2.51e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 106425551 199138 BGI_rs199138 2.51e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 108777104 199138 CEU.trio.12.15.2008_3154474_chr15_43174842 2.51e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 119343817 199138 KHS1506064 2.51e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 134264783 199138 ENSSNP10984746 2.51e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 136913652 199138 ENSSNP1100315 2.51e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 156481155 199138 GMI_SNP_35208739 2.51e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 167920203 199138 NA07022_36_chr15_43174842 2.51e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 171024989 199138 NA20431_36_chr15_43174842 2.51e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 173029072 199138 Human1M-Duov3_B_rs199138-128_B_F_1514077261 2.51e-01 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 200783787 199138 BUSHMAN-chr15-43174841 2.51e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 207183247 199138 BCM_CMT_1011-2694230 2.51e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 236760750 199138 pilot_1_CEU_6365379_chr15_43174842 2.51e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 243150639 199138 pilot_1_CHB+JPT_5035716_chr15_43174842 2.51e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 244286029 199138 CVDSNP55v1_A_rs199138 2.51e-01 2010.06.10 2010.06.10 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 254944480 199138 SNP28190_15_43174842 2.51e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 282235992 199138 GMI_AK_SNP_6556391 2.51e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45387550A>G;NG_009447.1:g.23810T>C;NM_014080.4:c.4239+85T>C 291828618 199138 SNP_1334976_chr15_43174842 2.51e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387570C>T;NG_009447.1:g.23790G>A;NM_014080.4:c.4239+65G>A 338746267 139533869 20100804_snps_10389808_chr15_45387570 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45387589T>G;NG_009447.1:g.23771A>C;NM_014080.4:c.4239+46A>C 489048620 201835313 20110521_exome_198028_chr15_45387589 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45387591C>T;NG_009447.1:g.23769G>A;NM_014080.4:c.4239+44G>A 491700056 199732099 SNV-chr15-43174883 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387592G>A;NG_009447.1:g.23768C>T;NM_014080.4:c.4239+43C>T 489048622 200592189 20110521_exome_198029_chr15_45387592 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387657C>A;NG_009447.1:g.23703G>T;NM_014080.4:c.4217G>T;NP_054799.4:p.Gly1406Val 464140719 186747221 20101123_snps_10307949_chr15_45387657 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387657C>A;NG_009447.1:g.23703G>T;NM_014080.4:c.4217G>T;NP_054799.4:p.Gly1406Val 491082210 186747221 20110521_exome_590008_chr15_45387657 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387667A>T;NG_009447.1:g.23693T>A;NM_014080.4:c.4207T>A;NP_054799.4:p.Ser1403Thr 338746268 144186721 20100804_snps_10389809_chr15_45387667 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45387667A>T;NG_009447.1:g.23693T>A;NM_014080.4:c.4207T>A;NP_054799.4:p.Ser1403Thr 342402522 144186721 ESP2500-chr15-45387667 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387667A>T;NG_009447.1:g.23693T>A;NM_014080.4:c.4207T>A;NP_054799.4:p.Ser1403Thr 491082211 144186721 20110521_exome_590009_chr15_45387667 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45387667A>T;NG_009447.1:g.23693T>A;NM_014080.4:c.4207T>A;NP_054799.4:p.Ser1403Thr 491493983 144186721 nonsyn_210209_chr_15_45387667 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45387718C>T;NG_009447.1:g.23642G>A;NM_014080.4:c.4156G>A;NP_054799.4:p.Gly1386Ser 342402523 139584933 ESP2500-chr15-45387718 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45387741T>G;NG_009447.1:g.23619A>C;NM_014080.4:c.4133A>C;NP_054799.4:p.Glu1378Ala 489048624 200172076 20110521_exome_198030_chr15_45387741 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45387741T>G;NG_009447.1:g.23619A>C;NM_014080.4:c.4133A>C;NP_054799.4:p.Glu1378Ala 491493984 200172076 nonsyn_210210_chr_15_45387741 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45387747T>G;NG_009447.1:g.23613A>C;NM_014080.4:c.4127A>C;NP_054799.4:p.Lys1376Thr 342402524 141857016 ESP2500-chr15-45387747 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 50506 NC_000015.9:g.45387755C>A;NG_009447.1:g.23605G>T;NM_014080.4:c.4119G>T;NP_054799.4:p.Glu1373Asp 491700057 200872016 SNV-chr15-43175047 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387765C>T;NG_009447.1:g.23595G>A;NM_014080.4:c.4109G>A;NP_054799.4:p.Gly1370Asp 489048626 201795772 20110521_exome_198031_chr15_45387765 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45387765C>T;NG_009447.1:g.23595G>A;NM_014080.4:c.4109G>A;NP_054799.4:p.Gly1370Asp 491493985 201795772 nonsyn_210211_chr_15_45387765 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45387776C>T;NG_009447.1:g.23584G>A;NM_014080.4:c.4098G>A;NP_054799.4:p.Pro1366= 342402525 150609056 ESP2500-chr15-45387776 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387776C>T;NG_009447.1:g.23584G>A;NM_014080.4:c.4098G>A;NP_054799.4:p.Pro1366= 464140720 150609056 20101123_snps_10307950_chr15_45387776 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387776C>T;NG_009447.1:g.23584G>A;NM_014080.4:c.4098G>A;NP_054799.4:p.Pro1366= 491082212 150609056 20110521_exome_590010_chr15_45387776 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45387777G>A;NG_009447.1:g.23583C>T;NM_014080.4:c.4097C>T;NP_054799.4:p.Pro1366Leu 491700058 201451019 SNV-chr15-43175069 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387826G>A;NG_009447.1:g.23534C>T;NM_014080.4:c.4081-33C>T 338746270 139966362 20100804_snps_10389811_chr15_45387826 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387826G>A;NG_009447.1:g.23534C>T;NM_014080.4:c.4081-33C>T 491082213 139966362 20110521_exome_590011_chr15_45387826 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 23462786 16977579 afd3557714 7.51e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 AFFY 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 66143593 16977579 SNP_A-2110728 7.51e-02 2006.10.27 2008.03.31 2004.09.20 2012.11.28 137 AFFY 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 76164282 16977579 AFFY_6_1M_SNP_A-2110728 7.51e-02 2007.08.30 2007.08.30 2004.09.20 2012.11.28 137 HGSV 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 79061773 16977579 Cor18507_SNV_20070510.chr15_43175191 7.51e-02 2007.10.22 2007.10.22 2004.09.20 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 83133909 16977579 KHS401967 7.51e-02 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 HGSV 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 84194916 16977579 Cor19240_SNV_20070510.chr15_43175191 7.51e-02 2007.12.06 2007.12.06 2004.09.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 114103013 16977579 NA19240_2008_12_16_2830341_chr15_43175191 7.51e-02 2008.12.18 2008.12.18 2004.09.20 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 118207872 16977579 NA18507_000028059_NCBI36.1_chr15_43175191 7.51e-02 2009.01.20 2009.01.20 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 169303824 16977579 NA19240_36_chr15_43175191 7.51e-02 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 AFFY 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 172685004 16977579 GenomeWideSNP_5_SNP_A-2110728 7.51e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 200783792 16977579 BUSHMAN-chr15-43175190 7.51e-02 2010.03.07 2010.03.07 2004.09.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387899T>C;NG_009447.1:g.23461A>G;NM_014080.4:c.4081-106A>G 226867357 16977579 pilot_1_YRI_8677040_chr15_43175191 7.51e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45387999G>A;NG_009447.1:g.23361C>T;NM_014080.4:c.4080+27C>T 489048627 199933166 20110521_exome_198032_chr15_45387999 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388008G>T;NG_009447.1:g.23352C>A;NM_014080.4:c.4080+18C>A 489048629 201798906 20110521_exome_198033_chr15_45388008 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388019C>T;NG_009447.1:g.23341G>A;NM_014080.4:c.4080+7G>A 226867358 115310278 pilot_1_YRI_8677041_chr15_43175311 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388019C>T;NG_009447.1:g.23341G>A;NM_014080.4:c.4080+7G>A 491082214 115310278 20110521_exome_590012_chr15_45388019 6.90e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45388057G>A;NG_009447.1:g.23303C>T;NM_014080.4:c.4049C>T;NP_054799.4:p.Pro1350Leu 342402526 140035596 ESP2500-chr15-45388057 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45388057G>A;NG_009447.1:g.23303C>T;NM_014080.4:c.4049C>T;NP_054799.4:p.Pro1350Leu 491700059 140035596 SNV-chr15-43175349 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45388070T>C;NG_009447.1:g.23290A>G;NM_014080.4:c.4036A>G;NP_054799.4:p.Ile1346Val 342402527 149848729 ESP2500-chr15-45388070 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45388079G>A;NG_009447.1:g.23281C>T;NM_014080.4:c.4027C>T;NP_054799.4:p.Leu1343Phe 342402528 147945181 ESP2500-chr15-45388079 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388079G>A;NG_009447.1:g.23281C>T;NM_014080.4:c.4027C>T;NP_054799.4:p.Leu1343Phe 489048631 147945181 20110521_exome_198034_chr15_45388079 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45388079G>A;NG_009447.1:g.23281C>T;NM_014080.4:c.4027C>T;NP_054799.4:p.Leu1343Phe 491493986 147945181 nonsyn_210212_chr_15_45388079 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45388081C>T;NG_009447.1:g.23279G>A;NM_014080.4:c.4025G>A;NP_054799.4:p.Arg1342His 342402529 140110061 ESP2500-chr15-45388081 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45388101T>C;NG_009447.1:g.23259A>G;NM_014080.4:c.4005A>G;NP_054799.4:p.Ala1335= 342402530 145520425 ESP2500-chr15-45388101 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45388106G>A;NG_009447.1:g.23254C>T;NM_014080.4:c.4000C>T;NP_054799.4:p.Arg1334Trp 489048633 200541410 20110521_exome_198035_chr15_45388106 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45388115G>A;NG_009447.1:g.23245C>T;NM_014080.4:c.3991C>T;NP_054799.4:p.Leu1331= 491700060 200490615 SNV-chr15-43175407 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45388138G>A;NG_009447.1:g.23222C>T;NM_014080.4:c.3968C>T;NP_054799.4:p.Ala1323Val 161051033 78020568 HumanOmni1-Quad_v1-0_B_SNP15-43175430-128_B_R_1588018447 5.00e-04 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388138G>A;NG_009447.1:g.23222C>T;NM_014080.4:c.3968C>T;NP_054799.4:p.Ala1323Val 338746271 78020568 20100804_snps_10389812_chr15_45388138 5.00e-04 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45388138G>A;NG_009447.1:g.23222C>T;NM_014080.4:c.3968C>T;NP_054799.4:p.Ala1323Val 479267132 78020568 HumanOmni1-Quad_v1-0_C_kgp19949612-0_B_R_1833735134 5.00e-04 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388138G>A;NG_009447.1:g.23222C>T;NM_014080.4:c.3968C>T;NP_054799.4:p.Ala1323Val 491082215 78020568 20110521_exome_590013_chr15_45388138 5.00e-04 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CORNELL 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 86245900 61730032 hCV25619316 3.43e-02 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 114103023 61730032 NA19240_2008_12_16_2830342_chr15_43175432 3.43e-02 2008.12.18 2008.12.18 2008.03.23 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 118207874 61730032 NA18507_000028060_NCBI36.1_chr15_43175432 3.43e-02 2009.01.20 2009.01.20 2008.03.23 2012.11.28 137 GMI 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 156481161 61730032 GMI_SNP_132091279 3.43e-02 2009.06.25 2009.06.25 2008.03.23 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 159730600 61730032 DUOX2-43175432 3.43e-02 2009.07.10 2009.07.10 2008.03.23 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 169303846 61730032 NA19240_36_chr15_43175432 3.43e-02 2009.10.01 2009.10.01 2008.03.23 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 200783795 61730032 BUSHMAN-chr15-43175431 3.43e-02 2010.03.07 2010.03.07 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 226867359 61730032 pilot_1_YRI_8677042_chr15_43175432 3.43e-02 2010.04.22 2010.04.22 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 243150640 61730032 pilot_1_CHB+JPT_5035717_chr15_43175432 3.43e-02 2010.05.01 2010.05.01 2008.03.23 2012.11.28 137 BL 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 254944488 61730032 SNP28191_15_43175432 3.43e-02 2010.08.19 2010.08.19 2008.03.23 2012.11.28 137 GMI 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 282235993 61730032 GMI_AK_SNP_6556392 3.43e-02 2010.12.16 2010.12.16 2008.03.23 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 342402531 61730032 ESP2500-chr15-45388140 3.43e-02 2011.03.26 2011.03.26 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 491082216 61730032 20110521_exome_590014_chr15_45388140 3.43e-02 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45388140G>A;NG_009447.1:g.23220C>T;NM_014080.4:c.3966C>T;NP_054799.4:p.Ser1322= 491700061 61730032 SNV-chr15-43175432 3.43e-02 2012.03.06 2012.03.13 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388219T>A;NG_009447.1:g.23141A>T;NM_014080.4:c.3887A>T;NP_054799.4:p.Glu1296Val 338746272 145811119 20100804_snps_10389813_chr15_45388219 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388219T>A;NG_009447.1:g.23141A>T;NM_014080.4:c.3887A>T;NP_054799.4:p.Glu1296Val 491082217 145811119 20110521_exome_590015_chr15_45388219 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388250A>G;NG_009447.1:g.23110T>C;NM_014080.4:c.3856T>C;NP_054799.4:p.Tyr1286His 338746273 148968706 20100804_snps_10389814_chr15_45388250 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45388250A>G;NG_009447.1:g.23110T>C;NM_014080.4:c.3856T>C;NP_054799.4:p.Tyr1286His 342402532 148968706 ESP2500-chr15-45388250 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388250A>G;NG_009447.1:g.23110T>C;NM_014080.4:c.3856T>C;NP_054799.4:p.Tyr1286His 491082218 148968706 20110521_exome_590016_chr15_45388250 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45388250A>G;NG_009447.1:g.23110T>C;NM_014080.4:c.3856T>C;NP_054799.4:p.Tyr1286His 491493987 148968706 nonsyn_210213_chr_15_45388250 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388274A>G;NG_009447.1:g.23086T>C;NM_014080.4:c.3848-16T>C 236760751 80041557 pilot_1_CEU_6365380_chr15_43175566 3.20e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45388274A>G;NG_009447.1:g.23086T>C;NM_014080.4:c.3848-16T>C 483395448 80041557 HumanOmni2.5-4v1_B_SNP15-43175566-0_B_R_1646910109 3.20e-03 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45388274A>G;NG_009447.1:g.23086T>C;NM_014080.4:c.3848-16T>C 484001093 80041557 HumanOmni2.5-4v1_D_kgp7949307-0_B_R_1806694768 3.20e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388274A>G;NG_009447.1:g.23086T>C;NM_014080.4:c.3848-16T>C 491082219 80041557 20110521_exome_590017_chr15_45388274 3.20e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388350G>A;NG_009447.1:g.23010C>T;NM_014080.4:c.3848-92C>T 464140721 184353708 20101123_snps_10307951_chr15_45388350 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 3585388 2554451 AC009700.4_135811 2.51e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 20004024 2554451 CSHL-HuFF-200402.chr15.NT_010194.16_16178939 2.51e-01 2004.02.21 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 21288211 2554451 WGSA-200403-chr15.chr15.NT_010194.16_16178939 2.51e-01 2004.03.19 2004.03.19 2001.09.28 2012.11.28 137 ABI 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 43782505 2554451 hCV16036235 2.51e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 77648798 2554451 Cor12156_SNV_20070510.chr15_43175674 2.51e-01 2007.10.14 2007.10.14 2001.09.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 83937220 2554451 Cor18956_SNV_20070510.chr15_43175674 2.51e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 90140350 2554451 JWB-0849079 2.51e-01 2008.02.29 2008.02.29 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 96754635 2554451 1103645599692 2.51e-01 2008.03.27 2008.03.27 2001.09.28 2012.11.28 137 BGI 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 106425552 2554451 BGI_rs2554451 2.51e-01 2008.09.15 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 108777108 2554451 CEU.trio.12.15.2008_3154475_chr15_43175674 2.51e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 134264786 2554451 ENSSNP10984747 2.51e-01 2009.05.13 2009.05.15 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 136913651 2554451 ENSSNP1100316 2.51e-01 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 156481167 2554451 GMI_SNP_35637787 2.51e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 167920213 2554451 NA07022_36_chr15_43175674 2.51e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 171024998 2554451 NA20431_36_chr15_43175674 2.51e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 200783800 2554451 BUSHMAN-chr15-43175673 2.51e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 236760752 2554451 pilot_1_CEU_6365381_chr15_43175674 2.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 243150641 2554451 pilot_1_CHB+JPT_5035718_chr15_43175674 2.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 254944493 2554451 SNP28192_15_43175674 2.51e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 282235994 2554451 GMI_AK_SNP_6556393 2.51e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 50506 NC_000015.9:g.45388382C>T;NG_009447.1:g.22978G>A;NM_014080.4:c.3848-124G>A 291828619 2554451 SNP_1334977_chr15_43175674 2.51e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388395G>A;NG_009447.1:g.22965C>T;NM_014080.4:c.3848-137C>T 114103030 73406323 NA19240_2008_12_16_2830343_chr15_43175687 7.51e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 50506 NC_000015.9:g.45388395G>A;NG_009447.1:g.22965C>T;NM_014080.4:c.3848-137C>T 118207876 73406323 NA18507_000028061_NCBI36.1_chr15_43175687 7.51e-02 2009.01.20 2009.01.20 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45388395G>A;NG_009447.1:g.22965C>T;NM_014080.4:c.3848-137C>T 169303857 73406323 NA19240_36_chr15_43175687 7.51e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45388395G>A;NG_009447.1:g.22965C>T;NM_014080.4:c.3848-137C>T 200783804 73406323 BUSHMAN-chr15-43175686 7.51e-02 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45388395G>A;NG_009447.1:g.22965C>T;NM_014080.4:c.3848-137C>T 226867360 73406323 pilot_1_YRI_8677043_chr15_43175687 7.51e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45388509C>T;NG_009447.1:g.22851G>A;NM_014080.4:c.3848-251G>A 338746274 79092309 20100804_snps_10389815_chr15_45388509 5.00e-04 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388609T>C;NG_009447.1:g.22751A>G;NM_014080.4:c.3848-351A>G 236760753 77891843 pilot_1_CEU_6365382_chr15_43175901 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45388727A>T;NG_009447.1:g.22633T>A;NM_014080.4:c.3848-469T>A 114103039 73406325 NA19240_2008_12_16_2830344_chr15_43176019 1.13e-01 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 50506 NC_000015.9:g.45388727A>T;NG_009447.1:g.22633T>A;NM_014080.4:c.3848-469T>A 118207878 73406325 NA18507_000028062_NCBI36.1_chr15_43176019 1.13e-01 2009.01.20 2009.01.20 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45388727A>T;NG_009447.1:g.22633T>A;NM_014080.4:c.3848-469T>A 169303873 73406325 NA19240_36_chr15_43176019 1.13e-01 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45388727A>T;NG_009447.1:g.22633T>A;NM_014080.4:c.3848-469T>A 200783806 73406325 BUSHMAN-chr15-43176018 1.13e-01 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45388727A>T;NG_009447.1:g.22633T>A;NM_014080.4:c.3848-469T>A 226867361 73406325 pilot_1_YRI_8677044_chr15_43176019 1.13e-01 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45388733A>G;NG_009447.1:g.22627T>C;NM_014080.4:c.3848-475T>C 464140722 190462302 20101123_snps_10307952_chr15_45388733 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45389038C>T;NG_009447.1:g.22322G>A;NM_014080.4:c.3847+398G>A 171025008 113823753 NA20431_36_chr15_43176330 8.70e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389038C>T;NG_009447.1:g.22322G>A;NM_014080.4:c.3847+398G>A 236760754 113823753 pilot_1_CEU_6365383_chr15_43176330 8.70e-03 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45389089G>A;NG_009447.1:g.22271C>T;NM_014080.4:c.3847+347C>T 96807665 71480282 1103645599677 2008.03.27 2008.03.27 2009.02.13 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45389096G>A;NG_009447.1:g.22264C>T;NM_014080.4:c.3847+340C>T 338746275 147581615 20100804_snps_10389816_chr15_45389096 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45389120C>T;NG_009447.1:g.22240G>A;NM_014080.4:c.3847+316G>A 464140723 193123864 20101123_snps_10307953_chr15_45389120 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 EXOME_CHIP 50506 NC_000015.9:g.45389434A>G;NG_009447.1:g.21926T>C;NM_014080.4:c.3847+2T>C 491493988 199752932 splice_210214_chr_15_45389434 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 50506 NC_000015.9:g.45389453G>C;NG_009447.1:g.21907C>G;NM_014080.4:c.3830C>G;NP_054799.4:p.Ala1277Gly 342402533 143471358 ESP2500-chr15-45389453 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389453G>C;NG_009447.1:g.21907C>G;NM_014080.4:c.3830C>G;NP_054799.4:p.Ala1277Gly 489048635 143471358 20110521_exome_198036_chr15_45389453 1.40e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45389453G>C;NG_009447.1:g.21907C>G;NM_014080.4:c.3830C>G;NP_054799.4:p.Ala1277Gly 491493989 143471358 nonsyn_210215_chr_15_45389453 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389453G>C;NG_009447.1:g.21907C>G;NM_014080.4:c.3830C>G;NP_054799.4:p.Ala1277Gly 491700062 143471358 SNV-chr15-43176745 1.40e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389483C>T;NG_009447.1:g.21877G>A;NM_014080.4:c.3800G>A;NP_054799.4:p.Arg1267Gln 491700063 201030966 SNV-chr15-43176775 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45389484G>T;NG_009447.1:g.21876C>A;NM_014080.4:c.3799C>A;NP_054799.4:p.Arg1267= 342402534 150929259 ESP2500-chr15-45389484 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45389491G>A;NG_009447.1:g.21869C>T;NM_014080.4:c.3792C>T;NP_054799.4:p.Ser1264= 338746276 141989848 20100804_snps_10389817_chr15_45389491 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389491G>A;NG_009447.1:g.21869C>T;NM_014080.4:c.3792C>T;NP_054799.4:p.Ser1264= 491082220 141989848 20110521_exome_590018_chr15_45389491 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389513T>C;NG_009447.1:g.21847A>G;NM_014080.4:c.3770A>G;NP_054799.4:p.Tyr1257Cys 491700064 202111642 SNV-chr15-43176805 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45389524C>T;NG_009447.1:g.21836G>A;NM_014080.4:c.3759G>A;NP_054799.4:p.Pro1253= 342402535 140663764 ESP2500-chr15-45389524 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389524C>T;NG_009447.1:g.21836G>A;NM_014080.4:c.3759G>A;NP_054799.4:p.Pro1253= 489048637 140663764 20110521_exome_198037_chr15_45389524 1.40e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389524C>T;NG_009447.1:g.21836G>A;NM_014080.4:c.3759G>A;NP_054799.4:p.Pro1253= 491700065 140663764 SNV-chr15-43176816 1.40e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389531A>G;NG_009447.1:g.21829T>C;NM_014080.4:c.3752T>C;NP_054799.4:p.Leu1251Pro 489048639 200910210 20110521_exome_198038_chr15_45389531 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389637C>A;NG_009447.1:g.21723G>T;NM_014080.4:c.3694-48G>T 489048640 201697136 20110521_exome_198039_chr15_45389637 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45389639C>T;NG_009447.1:g.21721G>A;NM_014080.4:c.3694-50G>A 200783812 113832134 BUSHMAN-chr15-43176930 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45389811C>A;NG_009447.1:g.21549G>T;NM_014080.4:c.3693+1G>T 489048642 200717240 20110521_exome_198040_chr15_45389811 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45389859G>A;NG_009447.1:g.21501C>T;NM_014080.4:c.3646C>T;NP_054799.4:p.Arg1216Trp 342402536 144886975 ESP2500-chr15-45389859 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45389868G>A;NG_009447.1:g.21492C>T;NM_014080.4:c.3637C>T;NP_054799.4:p.Arg1213Cys 342402537 138743322 ESP2500-chr15-45389868 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45389868G>A;NG_009447.1:g.21492C>T;NM_014080.4:c.3637C>T;NP_054799.4:p.Arg1213Cys 491493990 138743322 nonsyn_210216_chr_15_45389868 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45389873C>T;NG_009447.1:g.21487G>A;NM_014080.4:c.3632G>A;NP_054799.4:p.Arg1211His 342402538 141763307 ESP2500-chr15-45389873 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45389873C>T;NG_009447.1:g.21487G>A;NM_014080.4:c.3632G>A;NP_054799.4:p.Arg1211His 491493991 141763307 nonsyn_210217_chr_15_45389873 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389878G>A;NG_009447.1:g.21482C>T;NM_014080.4:c.3627C>T;NP_054799.4:p.His1209= 338746277 145751273 20100804_snps_10389818_chr15_45389878 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389878G>A;NG_009447.1:g.21482C>T;NM_014080.4:c.3627C>T;NP_054799.4:p.His1209= 491082221 145751273 20110521_exome_590019_chr15_45389878 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389890G>A;NG_009447.1:g.21470C>T;NM_014080.4:c.3615C>T;NP_054799.4:p.Phe1205= 491700066 201261436 SNV-chr15-43177182 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389965G>A;NG_009447.1:g.21395C>T;NM_014080.4:c.3566-26C>T 491700067 202124070 SNV-chr15-43177257 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45389979C>T;NG_009447.1:g.21381G>A;NM_014080.4:c.3566-40G>A 489048644 199954635 20110521_exome_198041_chr15_45389979 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45389979C>T;NG_009447.1:g.21381G>A;NM_014080.4:c.3566-40G>A 491700068 199954635 SNV-chr15-43177271 5.00e-04 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45390150A>T;NG_009447.1:g.21210T>A;NM_014080.4:c.3565+57T>A 491700069 201296941 SNV-chr15-43177442 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45390213C>T;NG_009447.1:g.21147G>A;NM_014080.4:c.3559G>A;NP_054799.4:p.Val1187Ile 338746278 138971379 20100804_snps_10389819_chr15_45390213 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45390213C>T;NG_009447.1:g.21147G>A;NM_014080.4:c.3559G>A;NP_054799.4:p.Val1187Ile 342402539 138971379 ESP2500-chr15-45390213 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45390213C>T;NG_009447.1:g.21147G>A;NM_014080.4:c.3559G>A;NP_054799.4:p.Val1187Ile 491082222 138971379 20110521_exome_590020_chr15_45390213 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45390213C>T;NG_009447.1:g.21147G>A;NM_014080.4:c.3559G>A;NP_054799.4:p.Val1187Ile 491493992 138971379 nonsyn_210218_chr_15_45390213 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45390214G>A;NG_009447.1:g.21146C>T;NM_014080.4:c.3558C>T;NP_054799.4:p.Thr1186= 338746279 140393165 20100804_snps_10389820_chr15_45390214 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45390214G>A;NG_009447.1:g.21146C>T;NM_014080.4:c.3558C>T;NP_054799.4:p.Thr1186= 342402540 140393165 ESP2500-chr15-45390214 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45390214G>A;NG_009447.1:g.21146C>T;NM_014080.4:c.3558C>T;NP_054799.4:p.Thr1186= 491082223 140393165 20110521_exome_590021_chr15_45390214 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45390240T>G;NG_009447.1:g.21120A>C;NM_014080.4:c.3532A>C;NP_054799.4:p.Lys1178Gln 342402541 149587277 ESP2500-chr15-45390240 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45390241C>A;NG_009447.1:g.21119G>T;NM_014080.4:c.3531G>T;NP_054799.4:p.Gln1177His 342402542 144254445 ESP2500-chr15-45390241 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45390241C>A;NG_009447.1:g.21119G>T;NM_014080.4:c.3531G>T;NP_054799.4:p.Gln1177His 491493993 144254445 nonsyn_210219_chr_15_45390241 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45390254G>A;NG_009447.1:g.21106C>T;NM_014080.4:c.3518C>T;NP_054799.4:p.Ser1173Phe 342402543 148718959 ESP2500-chr15-45390254 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45390466T>C;NG_009447.1:g.20894A>G;NM_014080.4:c.3516-210A>G 464140724 184267417 20101123_snps_10307954_chr15_45390466 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45390603T>G;NG_009447.1:g.20757A>C;NM_014080.4:c.3516-347A>C 226867362 116781998 pilot_1_YRI_8677045_chr15_43177895 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45390762G>T;NG_009447.1:g.20598C>A;NM_014080.4:c.3516-506C>A 464140725 189083534 20101123_snps_10307955_chr15_45390762 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45390888A>T;NG_009447.1:g.20472T>A;NM_014080.4:c.3516-632T>A 338746280 150364747 20100804_snps_10389821_chr15_45390888 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 50506 NC_000015.9:g.45390905_45390906insT;NC_000015.9:g.45390905_45390906insTT;NG_009447.1:g.20454_20455insA;NG_009447.1:g.20454_20455insAA;NM_014080.4:c.3516-650_3516-649insA;NM_014080.4:c.3516-650_3516-649insAA 15281158 11396853 INDEL_GP34_WGS_420344 2003.11.13 2003.11.22 2004.02.28 2012.05.16 137 DEVINE_LAB 50506 NC_000015.9:g.45390905_45390906insT;NC_000015.9:g.45390905_45390906insTT;NG_009447.1:g.20454_20455insA;NG_009447.1:g.20454_20455insAA;NM_014080.4:c.3516-650_3516-649insA;NM_014080.4:c.3516-650_3516-649insAA 99350754 11396853 INDEL_GP36_2007a_532074_0 2008.05.05 2008.05.05 2004.02.28 2012.05.16 137 DEVINE_LAB 50506 NC_000015.9:g.45390905delT;NG_009447.1:g.20455delA;NM_014080.4:c.3516-649delA 100260032 71893815 INDEL_GP36_2008a_1015577_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 BCMHGSC_JDW 50506 NC_000015.9:g.45390905_45390906insT;NC_000015.9:g.45390905_45390906insTT;NG_009447.1:g.20454_20455insA;NG_009447.1:g.20454_20455insAA;NM_014080.4:c.3516-650_3516-649insA;NM_014080.4:c.3516-650_3516-649insAA 103574859 11396853 JWB-4045489 2008.06.06 2009.05.11 2004.02.28 2012.05.16 137 BUSHMAN 50506 NC_000015.9:g.45390946G>A;NG_009447.1:g.20414C>T;NM_014080.4:c.3515+635C>T 200783816 111702374 BUSHMAN-chr15-43178237 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45390946G>A;NG_009447.1:g.20414C>T;NM_014080.4:c.3515+635C>T 338746281 111702374 20100804_snps_10389822_chr15_45390946 1.47e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45391071T>A;NG_009447.1:g.20289A>T;NM_014080.4:c.3515+510A>T 338746282 149501744 20100804_snps_10389823_chr15_45391071 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 50506 NC_000015.9:g.45391211C>T;NG_009447.1:g.20149G>A;NM_014080.4:c.3515+370G>A 6588990 4775756 NT_010194.13_364011 2003.02.13 2003.10.10 2003.02.20 2011.09.09 137 WI_SSAHASNP 50506 NC_000015.9:g.45391211C>T;NG_009447.1:g.20149G>A;NM_014080.4:c.3515+370G>A 11183524 4775756 chr15.NT_010194.15_16180822 2003.07.03 2003.10.10 2003.02.20 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45391211delC;NG_009447.1:g.20149delG;NM_014080.4:c.3515+370delG 328161352 146865634 YRI_chr15_43178502_indel 3.89e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391211delC;NG_009447.1:g.20149delG;NM_014080.4:c.3515+370delG 498906752 146865634 20110316_indels_chr15_45391210_45391210 3.89e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391278G>A;NG_009447.1:g.20082C>T;NM_014080.4:c.3515+303C>T 338746283 146338844 20100804_snps_10389824_chr15_45391278 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 50506 NC_000015.9:g.45391294C>T;NG_009447.1:g.20066G>A;NM_014080.4:c.3515+287G>A 6587027 4774515 NT_010194.13_364094 3.94e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45391294C>T;NG_009447.1:g.20066G>A;NM_014080.4:c.3515+287G>A 11183543 4774515 chr15.NT_010194.15_16180905 3.94e-02 2003.07.03 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391294C>T;NG_009447.1:g.20066G>A;NM_014080.4:c.3515+287G>A 338746284 4774515 20100804_snps_10389825_chr15_45391294 3.94e-02 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45391372C>G;NG_009447.1:g.19988G>C;NM_014080.4:c.3515+209G>C 3416371 2437859 AC012255.4_142543 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 HGSV 50506 NC_000015.9:g.45391455A>G;NG_009447.1:g.19905T>C;NM_014080.4:c.3515+126T>C 81319002 56833067 Cor18507_SNV_20070510.chr15_43178747 1.97e-01 2007.11.29 2007.11.29 2007.12.14 2012.11.28 137 HGSV 50506 NC_000015.9:g.45391455A>G;NG_009447.1:g.19905T>C;NM_014080.4:c.3515+126T>C 82712900 56833067 Cor19240_SNV_20070510.chr15_43178747 1.97e-01 2007.12.03 2007.12.03 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45391455A>G;NG_009447.1:g.19905T>C;NM_014080.4:c.3515+126T>C 169303891 56833067 NA19240_36_chr15_43178747 1.97e-01 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45391455A>G;NG_009447.1:g.19905T>C;NM_014080.4:c.3515+126T>C 200783820 56833067 BUSHMAN-chr15-43178746 1.97e-01 2010.03.07 2010.03.07 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391455A>G;NG_009447.1:g.19905T>C;NM_014080.4:c.3515+126T>C 338746285 56833067 20100804_snps_10389826_chr15_45391455 1.97e-01 2011.03.22 2011.03.22 2007.12.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45391459C>T;NG_009447.1:g.19901G>A;NM_014080.4:c.3515+122G>A 200783823 113798736 BUSHMAN-chr15-43178750 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 BCMHGSC_JDW 50506 NC_000015.9:g.45391460G>A;NG_009447.1:g.19900C>T;NM_014080.4:c.3515+121C>T 90140352 62025102 JWB-2884299 2008.02.29 2008.02.29 2008.03.24 2011.09.09 137 ENSEMBL 50506 NC_000015.9:g.45391460G>A;NG_009447.1:g.19900C>T;NM_014080.4:c.3515+121C>T 134264789 62025102 ENSSNP10984748 2009.05.13 2009.05.15 2008.03.24 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45391488G>T;NG_009447.1:g.19872C>A;NM_014080.4:c.3515+93C>A 464140726 181174939 20101123_snps_10307956_chr15_45391488 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45391499C>T;NG_009447.1:g.19861G>A;NM_014080.4:c.3515+82G>A 200783828 113618416 BUSHMAN-chr15-43178790 3.71e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45391499C>T;NG_009447.1:g.19861G>A;NM_014080.4:c.3515+82G>A 338746286 113618416 20100804_snps_10389827_chr15_45391499 3.71e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45391506C>T;NG_009447.1:g.19854G>A;NM_014080.4:c.3515+75G>A 200783831 111988186 BUSHMAN-chr15-43178797 8.20e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391506C>T;NG_009447.1:g.19854G>A;NM_014080.4:c.3515+75G>A 338746287 111988186 20100804_snps_10389828_chr15_45391506 8.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391517C>A;NG_009447.1:g.19843G>T;NM_014080.4:c.3515+64G>T 464140727 185660553 20101123_snps_10307957_chr15_45391517 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45391525A>G;NG_009447.1:g.19835T>C;NM_014080.4:c.3515+56T>C 200783836 111613241 BUSHMAN-chr15-43178816 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45391525A>G;NG_009447.1:g.19835T>C;NM_014080.4:c.3515+56T>C 338746288 111613241 20100804_snps_10389829_chr15_45391525 1.47e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 KWOK 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 351307 269869 OVLP-000621-114851 6.00e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 913767 269869 OVLP-000804-210673 6.00e-03 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 2032139 269869 OVLP-000925-696877 6.00e-03 2000.10.06 2006.10.25 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 3409717 269869 AC009700.4_132627 6.00e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 6588994 269869 NT_010194.13_364366 6.00e-03 2003.02.13 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 14390602 269869 chr15.NT_010194.16_16182123 6.00e-03 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 17534899 269869 CSHL-HuCC-200402.chr15.NT_010194.16_16182123 6.00e-03 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 20000305 269869 CSHL-HuFF-200402.chr15.NT_010194.16_16182123 6.00e-03 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 21256322 269869 WGSA-200403-chr15.chr15.NT_010194.16_16182123 6.00e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 78376380 269869 Cor12878_SNV_20070510.chr15_43178858 6.00e-03 2007.10.19 2007.10.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 78993333 269869 Cor18507_SNV_20070510.chr15_43178858 6.00e-03 2007.10.21 2007.10.21 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 83373402 269869 Cor18956_SNV_20070510.chr15_43178858 6.00e-03 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 83819546 269869 Cor19240_SNV_20070510.chr15_43178858 6.00e-03 2007.12.05 2007.12.05 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 90140354 269869 JWB-0849080 6.00e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 96754636 269869 1103645599693 6.00e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 106425553 269869 BGI_rs269869 6.00e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 108777112 269869 CEU.trio.12.15.2008_3154476_chr15_43178858 6.00e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 114103053 269869 NA19240_2008_12_16_2830346_chr15_43178858 6.00e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 118207880 269869 NA18507_000028063_NCBI36.1_chr15_43178858 6.00e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 134264792 269869 ENSSNP10984749 6.00e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 136913650 269869 ENSSNP1100317 6.00e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 156481174 269869 GMI_SNP_35264242 6.00e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 167920224 269869 NA07022_36_chr15_43178858 6.00e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 169303906 269869 NA19240_36_chr15_43178858 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 171025019 269869 NA20431_36_chr15_43178858 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45391566delA;NG_009447.1:g.19794delT;NM_014080.4:c.3515+15delT 193381200 112152834 BUSHMAN-chr15-43178857-43178858 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 200783840 269869 BUSHMAN-chr15-43178857 6.00e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 207266413 269869 BCM_CMT_1011-2721882 6.00e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 226867363 269869 pilot_1_YRI_8677046_chr15_43178858 6.00e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 254944502 269869 SNP28193_15_43178858 6.00e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 282235995 269869 GMI_AK_SNP_6556394 6.00e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 291828620 269869 SNP_1334978_chr15_43178858 6.00e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 491082224 269869 20110521_exome_590022_chr15_45391566 6.00e-03 2012.02.22 2012.02.22 2000.07.12 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45391566A>T;NG_009447.1:g.19794T>A;NM_014080.4:c.3515+15T>A 491700070 269869 SNV-chr15-43178858 6.00e-03 2012.03.06 2012.03.13 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45391567_45391568insT;NG_009447.1:g.19792_19793insA;NM_014080.4:c.3515+13_3515+14insA 193381202 111315629 BUSHMAN-chr15-43178859-43178859 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 CLINSEQ_SNP 50506 NC_000015.9:g.45391587T>G;NG_009447.1:g.19773A>C;NM_014080.4:c.3509A>C;NP_054799.4:p.Asn1170Thr 491700071 200459845 SNV-chr15-43178879 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45391647T>C;NG_009447.1:g.19713A>G;NM_014080.4:c.3449A>G;NP_054799.4:p.Tyr1150Cys 491493994 200000982 nonsyn_210220_chr_15_45391647 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 50506 NC_000015.9:g.45391661G>A;NG_009447.1:g.19699C>T;NM_014080.4:c.3435C>T;NP_054799.4:p.His1145= 338746289 150893514 20100804_snps_10389830_chr15_45391661 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45391661G>A;NG_009447.1:g.19699C>T;NM_014080.4:c.3435C>T;NP_054799.4:p.His1145= 342402544 150893514 ESP2500-chr15-45391661 3.70e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391661G>A;NG_009447.1:g.19699C>T;NM_014080.4:c.3435C>T;NP_054799.4:p.His1145= 491082225 150893514 20110521_exome_590023_chr15_45391661 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45391661G>A;NG_009447.1:g.19699C>T;NM_014080.4:c.3435C>T;NP_054799.4:p.His1145= 491700072 150893514 SNV-chr15-43178953 3.70e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391709C>T;NG_009447.1:g.19651G>A;NM_014080.4:c.3416-29G>A 226867364 115150281 pilot_1_YRI_8677047_chr15_43179001 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391709C>T;NG_009447.1:g.19651G>A;NM_014080.4:c.3416-29G>A 491082226 115150281 20110521_exome_590024_chr15_45391709 2.30e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391733G>A;NG_009447.1:g.19627C>T;NM_014080.4:c.3416-53C>T 338746290 139366597 20100804_snps_10389831_chr15_45391733 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45391757A>C;NG_009447.1:g.19603T>G;NM_014080.4:c.3416-77T>G 200783844 111276476 BUSHMAN-chr15-43179048 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45391851G>T;NG_009447.1:g.19509C>A;NM_014080.4:c.3415+9C>A 489048646 201877498 20110521_exome_198042_chr15_45391851 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391880A>T;NG_009447.1:g.19480T>A;NM_014080.4:c.3395T>A;NP_054799.4:p.Met1132Lys 464140728 189585637 20101123_snps_10307958_chr15_45391880 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391880A>T;NG_009447.1:g.19480T>A;NM_014080.4:c.3395T>A;NP_054799.4:p.Met1132Lys 491082227 189585637 20110521_exome_590025_chr15_45391880 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45391884C>T;NG_009447.1:g.19476G>A;NM_014080.4:c.3391G>A;NP_054799.4:p.Ala1131Thr 342402545 147540920 ESP2500-chr15-45391884 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45391884C>T;NG_009447.1:g.19476G>A;NM_014080.4:c.3391G>A;NP_054799.4:p.Ala1131Thr 491493995 147540920 nonsyn_210221_chr_15_45391884 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391885G>A;NG_009447.1:g.19475C>T;NM_014080.4:c.3390C>T;NP_054799.4:p.Ile1130= 489048648 201282348 20110521_exome_198043_chr15_45391885 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45391908C>T;NG_009447.1:g.19452G>A;NM_014080.4:c.3367G>A;NP_054799.4:p.Ala1123Thr 200783848 113632824 BUSHMAN-chr15-43179199 1.80e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391908C>T;NG_009447.1:g.19452G>A;NM_014080.4:c.3367G>A;NP_054799.4:p.Ala1123Thr 338746294 113632824 20100804_snps_10389835_chr15_45391908 1.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45391908C>T;NG_009447.1:g.19452G>A;NM_014080.4:c.3367G>A;NP_054799.4:p.Ala1123Thr 342402546 113632824 ESP2500-chr15-45391908 1.80e-03 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45391908C>T;NG_009447.1:g.19452G>A;NM_014080.4:c.3367G>A;NP_054799.4:p.Ala1123Thr 491082228 113632824 20110521_exome_590026_chr15_45391908 1.80e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45391908C>T;NG_009447.1:g.19452G>A;NM_014080.4:c.3367G>A;NP_054799.4:p.Ala1123Thr 491493996 113632824 nonsyn_210222_chr_15_45391908 1.80e-03 2012.03.05 2012.03.05 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45391928C>T;NG_009447.1:g.19432G>A;NM_014080.4:c.3347G>A;NP_054799.4:p.Arg1116His 342402547 145586290 ESP2500-chr15-45391928 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45391928C>T;NG_009447.1:g.19432G>A;NM_014080.4:c.3347G>A;NP_054799.4:p.Arg1116His 491700073 145586290 SNV-chr15-43179220 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45391929G>A;NG_009447.1:g.19431C>T;NM_014080.4:c.3346C>T;NP_054799.4:p.Arg1116Cys 491700074 200647474 SNV-chr15-43179221 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45391960G>A;NG_009447.1:g.19400C>T;NM_014080.4:c.3315C>T;NP_054799.4:p.Leu1105= 342402548 147719149 ESP2500-chr15-45391960 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45391962G>A;NG_009447.1:g.19398C>T;NM_014080.4:c.3313C>T;NP_054799.4:p.Leu1105Phe 342402549 139115517 ESP2500-chr15-45391962 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45391967C>T;NG_009447.1:g.19393G>A;NM_014080.4:c.3308G>A;NP_054799.4:p.Arg1103His 342402550 149907592 ESP2500-chr15-45391967 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45391968G>A;NG_009447.1:g.19392C>T;NM_014080.4:c.3307C>T;NP_054799.4:p.Arg1103Cys 342402551 144923217 ESP2500-chr15-45391968 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45391974T>C;NG_009447.1:g.19386A>G;NM_014080.4:c.3301A>G;NP_054799.4:p.Met1101Val 489048650 200344635 20110521_exome_198044_chr15_45391974 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392008G>A;NG_009447.1:g.19352C>T;NM_014080.4:c.3267C>T;NP_054799.4:p.Ser1089= 489048652 202085990 20110521_exome_198045_chr15_45392008 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45392014C>T;NG_009447.1:g.19346G>A;NM_014080.4:c.3261G>A;NP_054799.4:p.Ala1087= 159730601 79480907 DUOX2-43179306 1.42e-02 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45392014C>T;NG_009447.1:g.19346G>A;NM_014080.4:c.3261G>A;NP_054799.4:p.Ala1087= 200783852 79480907 BUSHMAN-chr15-43179305 1.42e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392014C>T;NG_009447.1:g.19346G>A;NM_014080.4:c.3261G>A;NP_054799.4:p.Ala1087= 226867365 79480907 pilot_1_YRI_8677048_chr15_43179306 1.42e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392014C>T;NG_009447.1:g.19346G>A;NM_014080.4:c.3261G>A;NP_054799.4:p.Ala1087= 342402552 79480907 ESP2500-chr15-45392014 1.42e-02 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392014C>T;NG_009447.1:g.19346G>A;NM_014080.4:c.3261G>A;NP_054799.4:p.Ala1087= 491082229 79480907 20110521_exome_590027_chr15_45392014 1.42e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392018G>A;NG_009447.1:g.19342C>T;NM_014080.4:c.3257C>T;NP_054799.4:p.Thr1086Met 489048654 201362841 20110521_exome_198046_chr15_45392018 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392043C>T;NG_009447.1:g.19317G>A;NM_014080.4:c.3232G>A;NP_054799.4:p.Val1078Met 338746295 147772932 20100804_snps_10389836_chr15_45392043 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392043C>T;NG_009447.1:g.19317G>A;NM_014080.4:c.3232G>A;NP_054799.4:p.Val1078Met 342402553 147772932 ESP2500-chr15-45392043 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392043C>T;NG_009447.1:g.19317G>A;NM_014080.4:c.3232G>A;NP_054799.4:p.Val1078Met 491082230 147772932 20110521_exome_590028_chr15_45392043 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392043C>T;NG_009447.1:g.19317G>A;NM_014080.4:c.3232G>A;NP_054799.4:p.Val1078Met 491493997 147772932 nonsyn_210223_chr_15_45392043 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392069G>C;NG_009447.1:g.19291C>G;NM_014080.4:c.3206C>G;NP_054799.4:p.Pro1069Arg 342402554 146766319 ESP2500-chr15-45392069 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 KWOK 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 351306 269868 OVLP-000621-114850 2.45e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 913766 269868 OVLP-000804-210672 2.45e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 2032138 269868 OVLP-000925-696876 2.45e-01 2000.10.06 2004.08.05 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 3617601 269868 AC012255.4_143246 2.45e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 17535546 269868 CSHL-HuCC-200402.chr15.NT_010194.16_16182632 2.45e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 21260951 269868 WGSA-200403-chr15.chr15.NT_010194.16_16182632 2.45e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 23462795 269868 afd3557681 2.45e-01 2004.08.20 2004.09.13 2000.07.12 2012.11.28 137 APPLERA_GI 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 48429652 269868 hCV2409597 2.45e-01 2005.11.30 2006.11.03 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 65727119 269868 Human1-rs269868 2.45e-01 2006.10.10 2006.10.10 2000.07.12 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 69174997 269868 PGP03557681 2.45e-01 2007.01.30 2007.08.14 2000.07.12 2012.11.28 137 AFFY 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 74806605 269868 SNP_M-176395 2.45e-01 2007.08.09 2007.08.09 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 74892248 269868 ILMN_Human_1M_rs269868 2.45e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 78321308 269868 Cor12878_SNV_20070510.chr15_43179367 2.45e-01 2007.10.18 2007.10.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 83106018 269868 Cor18956_SNV_20070510.chr15_43179367 2.45e-01 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 90140356 269868 JWB-0849081 2.45e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 96754637 269868 1103645599694 2.45e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 106425554 269868 BGI_rs269868 2.45e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 108777116 269868 CEU.trio.12.15.2008_3154477_chr15_43179367 2.45e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 134264795 269868 ENSSNP6786967 2.45e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 136913648 269868 ENSSNP1100318 2.45e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 156481181 269868 GMI_SNP_237086120 2.45e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 159730602 269868 DUOX2-43179367 2.45e-01 2009.07.10 2009.07.10 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 160570741 269868 HumanOmni1-Quad_v1-0_B_rs269868-128_B_F_1513898681 2.45e-01 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 167920240 269868 NA07022_36_chr15_43179367 2.45e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 171025031 269868 NA20431_36_chr15_43179367 2.45e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 173433276 269868 Human1M-Duov3_B_rs269868-128_B_F_1513898681 2.45e-01 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 200783856 269868 BUSHMAN-chr15-43179366 2.45e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 207230121 269868 BCM_CMT_1011-2709868 2.45e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 211602061 269868 YRI.trio.3.2010_1261490_chr15_43179367 2.45e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 226867366 269868 pilot_1_YRI_8677049_chr15_43179367 2.45e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 236760755 269868 pilot_1_CEU_6365384_chr15_43179367 2.45e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 243150642 269868 pilot_1_CHB+JPT_5035719_chr15_43179367 2.45e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 254944509 269868 SNP28194_15_43179367 2.45e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 282235996 269868 GMI_AK_SNP_6556395 2.45e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 291828621 269868 SNP_1334979_chr15_43179367 2.45e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 342402555 269868 ESP2500-chr15-45392075 2.45e-01 2011.03.26 2011.03.26 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 480638356 269868 HumanOmni2.5-4v1_B_rs269868-128_B_F_1773159181 2.45e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 480653600 269868 HumanOmniExpress-12v1_C_rs269868-131_B_F_1857292706 2.45e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 481497113 269868 HumanOmni1-Quad_v1-0_C_rs269868-131_B_F_1865671997 2.45e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 485114259 269868 HumanOmni2.5-4v1_D_rs269868-131_B_F_1857292706 2.45e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 491082231 269868 20110521_exome_590029_chr15_45392075 2.45e-01 2012.02.22 2012.02.22 2000.07.12 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 491493998 269868 nonsyn_210224_chr_15_45392075 2.45e-01 2012.03.05 2012.03.05 2000.07.12 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392075G>A;NG_009447.1:g.19285C>T;NM_014080.4:c.3200C>T;NP_054799.4:p.Ser1067Leu 491700075 269868 SNV-chr15-43179367 2.45e-01 2012.03.06 2012.03.13 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392083G>T;NG_009447.1:g.19277C>A;NM_014080.4:c.3192C>A;NP_054799.4:p.Gly1064= 464140729 180716500 20101123_snps_10307959_chr15_45392083 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392083G>T;NG_009447.1:g.19277C>A;NM_014080.4:c.3192C>A;NP_054799.4:p.Gly1064= 491082232 180716500 20110521_exome_590030_chr15_45392083 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392099G>A;NG_009447.1:g.19261C>T;NM_014080.4:c.3185-9C>T 338746296 148813922 20100804_snps_10389837_chr15_45392099 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392099G>A;NG_009447.1:g.19261C>T;NM_014080.4:c.3185-9C>T 491082233 148813922 20110521_exome_590031_chr15_45392099 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392155C>G;NG_009447.1:g.19205G>C;NM_014080.4:c.3185-65G>C 338746297 143612396 20100804_snps_10389838_chr15_45392155 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45392213C>T;NG_009447.1:g.19147G>A;NM_014080.4:c.3184+35G>A 489048656 200573942 20110521_exome_198047_chr15_45392213 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392253G>A;NG_009447.1:g.19107C>T;NM_014080.4:c.3179C>T;NP_054799.4:p.Ala1060Val 464140730 186021702 20101123_snps_10307960_chr15_45392253 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392253G>A;NG_009447.1:g.19107C>T;NM_014080.4:c.3179C>T;NP_054799.4:p.Ala1060Val 491082234 186021702 20110521_exome_590032_chr15_45392253 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392253G>A;NG_009447.1:g.19107C>T;NM_014080.4:c.3179C>T;NP_054799.4:p.Ala1060Val 491493999 186021702 nonsyn_210225_chr_15_45392253 9.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392257G>A;NG_009447.1:g.19103C>T;NM_014080.4:c.3175C>T;NP_054799.4:p.Arg1059Cys 342402556 145502900 ESP2500-chr15-45392257 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 236760756 76343591 pilot_1_CEU_6365385_chr15_43179569 2.30e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 342402557 76343591 ESP2500-chr15-45392277 2.30e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 481363778 76343591 HumanOmni2.5-4v1_D_kgp1740807-0_B_F_1806877688 2.30e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 483395450 76343591 HumanOmni2.5-4v1_B_SNP15-43179569-0_B_F_1621785110 2.30e-03 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 491082235 76343591 20110521_exome_590033_chr15_45392277 2.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 491494000 76343591 nonsyn_210226_chr_15_45392277 2.30e-03 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392277C>T;NG_009447.1:g.19083G>A;NM_014080.4:c.3155G>A;NP_054799.4:p.Cys1052Tyr 491700076 76343591 SNV-chr15-43179569 2.30e-03 2012.03.06 2012.03.13 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392285C>A;NC_000015.9:g.45392285C>T;NG_009447.1:g.19075G>A;NG_009447.1:g.19075G>T;NM_014080.4:c.3147G>A;NM_014080.4:c.3147G>T;NP_054799.4:p.Ser1049= 342402558 140807172 ESP2500-chr15-45392285 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392285C>A;NC_000015.9:g.45392285C>T;NG_009447.1:g.19075G>A;NG_009447.1:g.19075G>T;NM_014080.4:c.3147G>A;NM_014080.4:c.3147G>T;NP_054799.4:p.Ser1049= 489048658 140807172 20110521_exome_198048_chr15_45392285 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392305C>T;NG_009447.1:g.19055G>A;NM_014080.4:c.3127G>A;NP_054799.4:p.Val1043Met 491494001 201263758 nonsyn_210227_chr_15_45392305 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 50506 NC_000015.9:g.45392326C>T;NG_009447.1:g.19034G>A;NM_014080.4:c.3106G>A;NP_054799.4:p.Glu1036Lys 342402559 150219273 ESP2500-chr15-45392326 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45392329C>T;NG_009447.1:g.19031G>A;NM_014080.4:c.3103G>A;NP_054799.4:p.Val1035Met 342402560 138774384 ESP2500-chr15-45392329 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392329C>T;NG_009447.1:g.19031G>A;NM_014080.4:c.3103G>A;NP_054799.4:p.Val1035Met 464140731 138774384 20101123_snps_10307961_chr15_45392329 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392329C>T;NG_009447.1:g.19031G>A;NM_014080.4:c.3103G>A;NP_054799.4:p.Val1035Met 491082236 138774384 20110521_exome_590034_chr15_45392329 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392329C>T;NG_009447.1:g.19031G>A;NM_014080.4:c.3103G>A;NP_054799.4:p.Val1035Met 491494002 138774384 nonsyn_210228_chr_15_45392329 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392329C>T;NG_009447.1:g.19031G>A;NM_014080.4:c.3103G>A;NP_054799.4:p.Val1035Met 491700077 138774384 SNV-chr15-43179621 9.00e-04 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392351C>T;NG_009447.1:g.19009G>A;NM_014080.4:c.3081G>A;NP_054799.4:p.Lys1027= 226867367 78876145 pilot_1_YRI_8677050_chr15_43179643 4.60e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392351C>T;NG_009447.1:g.19009G>A;NM_014080.4:c.3081G>A;NP_054799.4:p.Lys1027= 342402561 78876145 ESP2500-chr15-45392351 4.60e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392351C>T;NG_009447.1:g.19009G>A;NM_014080.4:c.3081G>A;NP_054799.4:p.Lys1027= 491082237 78876145 20110521_exome_590035_chr15_45392351 4.60e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392351C>T;NG_009447.1:g.19009G>A;NM_014080.4:c.3081G>A;NP_054799.4:p.Lys1027= 491494003 78876145 nonsyn_210229_chr_15_45392351 4.60e-03 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392351C>T;NG_009447.1:g.19009G>A;NM_014080.4:c.3081G>A;NP_054799.4:p.Lys1027= 491700078 78876145 SNV-chr15-43179643 4.60e-03 2012.03.06 2012.03.13 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392366G>A;NG_009447.1:g.18994C>T;NM_014080.4:c.3066C>T;NP_054799.4:p.Gly1022= 464140732 184000714 20101123_snps_10307962_chr15_45392366 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392366G>A;NG_009447.1:g.18994C>T;NM_014080.4:c.3066C>T;NP_054799.4:p.Gly1022= 491082238 184000714 20110521_exome_590036_chr15_45392366 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392371G>A;NC_000015.9:g.45392371G>T;NG_009447.1:g.18989C>A;NG_009447.1:g.18989C>T;NM_014080.4:c.3061C>A;NM_014080.4:c.3061C>T;NP_054799.4:p.Arg1021=;NP_054799.4:p.Arg1021Ter 342402562 147452041 ESP2500-chr15-45392371 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392371G>A;NC_000015.9:g.45392371G>T;NG_009447.1:g.18989C>A;NG_009447.1:g.18989C>T;NM_014080.4:c.3061C>A;NM_014080.4:c.3061C>T;NP_054799.4:p.Arg1021=;NP_054799.4:p.Arg1021Ter 489048660 147452041 20110521_exome_198049_chr15_45392371 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392371G>A;NC_000015.9:g.45392371G>T;NG_009447.1:g.18989C>A;NG_009447.1:g.18989C>T;NM_014080.4:c.3061C>A;NM_014080.4:c.3061C>T;NP_054799.4:p.Arg1021=;NP_054799.4:p.Arg1021Ter 491494004 147452041 stopgl_210230_chr_15_45392371 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392377T>C;NG_009447.1:g.18983A>G;NM_014080.4:c.3055A>G;NP_054799.4:p.Met1019Val 338746298 148053632 20100804_snps_10389839_chr15_45392377 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392377T>C;NG_009447.1:g.18983A>G;NM_014080.4:c.3055A>G;NP_054799.4:p.Met1019Val 342402563 148053632 ESP2500-chr15-45392377 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392377T>C;NG_009447.1:g.18983A>G;NM_014080.4:c.3055A>G;NP_054799.4:p.Met1019Val 491082239 148053632 20110521_exome_590037_chr15_45392377 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392377T>C;NG_009447.1:g.18983A>G;NM_014080.4:c.3055A>G;NP_054799.4:p.Met1019Val 491494005 148053632 nonsyn_210231_chr_15_45392377 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392380T>C;NG_009447.1:g.18980A>G;NM_014080.4:c.3052A>G;NP_054799.4:p.Lys1018Glu 342402564 144086319 ESP2500-chr15-45392380 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 ILLUMINA 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 161051034 79393107 HumanOmni1-Quad_v1-0_B_SNP15-43179674-128_B_F_1588013823 2.66e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 200783859 79393107 BUSHMAN-chr15-43179673 2.66e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 226867368 79393107 pilot_1_YRI_8677051_chr15_43179674 2.66e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 342402565 79393107 ESP2500-chr15-45392382 2.66e-02 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 479267785 79393107 HumanOmni1-Quad_v1-0_C_kgp19988686-0_B_F_1833885348 2.66e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 482047859 79393107 HumanOmni2.5-4v1_D_kgp19988686-0_T_R_1833885349 2.66e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 483395452 79393107 HumanOmni2.5-4v1_B_SNP15-43179674-0_T_R_1640337173 2.66e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 491082240 79393107 20110521_exome_590038_chr15_45392382 2.66e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392382T>C;NG_009447.1:g.18978A>G;NM_014080.4:c.3050A>G;NP_054799.4:p.Glu1017Gly 491494006 79393107 nonsyn_210232_chr_15_45392382 2.66e-02 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45392390C>T;NG_009447.1:g.18970G>A;NM_014080.4:c.3042G>A;NP_054799.4:p.Ala1014= 200783863 112598817 BUSHMAN-chr15-43179681 8.20e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392390C>T;NG_009447.1:g.18970G>A;NM_014080.4:c.3042G>A;NP_054799.4:p.Ala1014= 338746299 112598817 20100804_snps_10389840_chr15_45392390 8.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392390C>T;NG_009447.1:g.18970G>A;NM_014080.4:c.3042G>A;NP_054799.4:p.Ala1014= 342402566 112598817 ESP2500-chr15-45392390 8.20e-03 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392390C>T;NG_009447.1:g.18970G>A;NM_014080.4:c.3042G>A;NP_054799.4:p.Ala1014= 491082241 112598817 20110521_exome_590039_chr15_45392390 8.20e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392390C>T;NG_009447.1:g.18970G>A;NM_014080.4:c.3042G>A;NP_054799.4:p.Ala1014= 491700079 112598817 SNV-chr15-43179682 8.20e-03 2012.03.06 2012.03.13 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392391G>A;NG_009447.1:g.18969C>T;NM_014080.4:c.3041C>T;NP_054799.4:p.Ala1014Val 338746300 144759209 20100804_snps_10389841_chr15_45392391 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45392391G>A;NG_009447.1:g.18969C>T;NM_014080.4:c.3041C>T;NP_054799.4:p.Ala1014Val 342402567 144759209 ESP2500-chr15-45392391 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392391G>A;NG_009447.1:g.18969C>T;NM_014080.4:c.3041C>T;NP_054799.4:p.Ala1014Val 491082242 144759209 20110521_exome_590040_chr15_45392391 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45392391G>A;NG_009447.1:g.18969C>T;NM_014080.4:c.3041C>T;NP_054799.4:p.Ala1014Val 491494007 144759209 nonsyn_210233_chr_15_45392391 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392391G>A;NG_009447.1:g.18969C>T;NM_014080.4:c.3041C>T;NP_054799.4:p.Ala1014Val 491700080 144759209 SNV-chr15-43179683 5.00e-04 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 YUSUKE 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 3214528 2277611 IMS-JST074612 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 74878594 2277611 ILMN_Human_1M_rs2277611 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 119426535 2277611 KHS1588782 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 160526817 2277611 HumanOmni1-Quad_v1-0_B_rs2277611-128_B_F_1513896359 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 173240499 2277611 Human1M-Duov3_B_rs2277611-128_B_F_1513896359 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 480501072 2277611 HumanOmni2.5-4v1_B_rs2277611-128_B_F_1772843653 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 480515451 2277611 HumanOmniExpress-12v1_C_rs2277611-131_B_F_1857185288 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 481321598 2277611 HumanOmni1-Quad_v1-0_C_rs2277611-131_B_F_1865460151 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45392406C>T;NG_009447.1:g.18954G>A;NM_014080.4:c.3026G>A;NP_054799.4:p.Arg1009Gln 485048037 2277611 HumanOmni2.5-4v1_D_rs2277611-131_B_F_1857185288 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392466C>T;NG_009447.1:g.18894G>A;NM_014080.4:c.3006-40G>A 489048662 200630595 20110521_exome_198050_chr15_45392466 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392509G>A;NG_009447.1:g.18851C>T;NM_014080.4:c.3006-83C>T 464140733 186030621 20101123_snps_10307963_chr15_45392509 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45392517C>A;NG_009447.1:g.18843G>T;NM_014080.4:c.3006-91G>T 226867369 77512689 pilot_1_YRI_8677052_chr15_43179809 2.66e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 GMI 50506 NC_000015.9:g.45392640C>G;NG_009447.1:g.18720G>C;NM_014080.4:c.3006-214G>C 282235997 199756112 GMI_AK_SNP_6556396 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BUSHMAN 50506 NC_000015.9:g.45392778G>C;NG_009447.1:g.18582C>G;NM_014080.4:c.3005+175C>G 200783868 79374174 BUSHMAN-chr15-43180069 1.42e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392778G>C;NG_009447.1:g.18582C>G;NM_014080.4:c.3005+175C>G 226867370 79374174 pilot_1_YRI_8677053_chr15_43180070 1.42e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45392812G>A;NG_009447.1:g.18548C>T;NM_014080.4:c.3005+141C>T 200783871 76356689 BUSHMAN-chr15-43180103 3.66e-02 2010.03.07 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45392812G>A;NG_009447.1:g.18548C>T;NM_014080.4:c.3005+141C>T 226867371 76356689 pilot_1_YRI_8677054_chr15_43180104 3.66e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45392840T>C;NG_009447.1:g.18520A>G;NM_014080.4:c.3005+113A>G 464140734 190795916 20101123_snps_10307964_chr15_45392840 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45392848G>C;NG_009447.1:g.18512C>G;NM_014080.4:c.3005+105C>G 464140735 182660526 20101123_snps_10307965_chr15_45392848 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45392901C>T;NG_009447.1:g.18459G>A;NM_014080.4:c.3005+52G>A 200783876 75048501 BUSHMAN-chr15-43180192 1.42e-02 2010.03.07 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45392901C>T;NG_009447.1:g.18459G>A;NM_014080.4:c.3005+52G>A 226867372 75048501 pilot_1_YRI_8677055_chr15_43180193 1.42e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45392934G>A;NG_009447.1:g.18426C>T;NM_014080.4:c.3005+19C>T 464140736 186983657 20101123_snps_10307966_chr15_45392934 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45392934G>A;NG_009447.1:g.18426C>T;NM_014080.4:c.3005+19C>T 491082243 186983657 20110521_exome_590041_chr15_45392934 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45392934G>A;NG_009447.1:g.18426C>T;NM_014080.4:c.3005+19C>T 491700081 186983657 SNV-chr15-43180226 9.00e-04 2012.03.06 2012.03.13 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393008C>A;NG_009447.1:g.18352G>T;NM_014080.4:c.2950G>T;NP_054799.4:p.Ala984Ser 338746301 138358075 20100804_snps_10389842_chr15_45393008 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45393008C>A;NG_009447.1:g.18352G>T;NM_014080.4:c.2950G>T;NP_054799.4:p.Ala984Ser 342402568 138358075 ESP2500-chr15-45393008 2.70e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393008C>A;NG_009447.1:g.18352G>T;NM_014080.4:c.2950G>T;NP_054799.4:p.Ala984Ser 491082244 138358075 20110521_exome_590042_chr15_45393008 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45393008C>A;NG_009447.1:g.18352G>T;NM_014080.4:c.2950G>T;NP_054799.4:p.Ala984Ser 491494008 138358075 nonsyn_210234_chr_15_45393008 2.70e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45393010G>T;NG_009447.1:g.18350C>A;NM_014080.4:c.2948C>A;NP_054799.4:p.Pro983His 342402569 139507531 ESP2500-chr15-45393010 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CORNELL 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 86245897 61730030 hCV25619301 2.93e-02 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 236760758 61730030 pilot_1_CEU_6365387_chr15_43180306 2.93e-02 2010.05.01 2010.05.01 2008.03.23 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 342402570 61730030 ESP2500-chr15-45393014 2.93e-02 2011.03.26 2011.03.26 2008.03.23 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 491082245 61730030 20110521_exome_590043_chr15_45393014 2.93e-02 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 491494009 61730030 nonsyn_210235_chr_15_45393014 2.93e-02 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45393014G>C;NG_009447.1:g.18346C>G;NM_014080.4:c.2944C>G;NP_054799.4:p.Pro982Ala 491700082 61730030 SNV-chr15-43180306 2.93e-02 2012.03.06 2012.03.13 2008.03.23 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45393160A>C;NG_009447.1:g.18200T>G;NM_014080.4:c.2922-124T>G 134264798 76824793 ENSSNP10984751 2009.05.13 2009.05.15 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45393231C>T;NG_009447.1:g.18129G>A;NM_014080.4:c.2921+172G>A 464140737 192727478 20101123_snps_10307967_chr15_45393231 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45393361G>A;NG_009447.1:g.17999C>T;NM_014080.4:c.2921+42C>T 200783879 111706445 BUSHMAN-chr15-43180652 9.60e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393361G>A;NG_009447.1:g.17999C>T;NM_014080.4:c.2921+42C>T 338746302 111706445 20100804_snps_10389843_chr15_45393361 9.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393361G>A;NG_009447.1:g.17999C>T;NM_014080.4:c.2921+42C>T 491082246 111706445 20110521_exome_590044_chr15_45393361 9.60e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393368C>G;NG_009447.1:g.17992G>C;NM_014080.4:c.2921+35G>C 338746303 146077650 20100804_snps_10389844_chr15_45393368 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45393418C>T;NG_009447.1:g.17942G>A;NM_014080.4:c.2906G>A;NP_054799.4:p.Arg969Gln 342402571 146664125 ESP2500-chr15-45393418 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45393418C>T;NG_009447.1:g.17942G>A;NM_014080.4:c.2906G>A;NP_054799.4:p.Arg969Gln 491494010 146664125 nonsyn_210236_chr_15_45393418 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45393429C>T;NG_009447.1:g.17931G>A;NM_014080.4:c.2895G>A;NP_054799.4:p.Ser965= 342402572 140446258 ESP2500-chr15-45393429 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45393430G>A;NG_009447.1:g.17930C>T;NM_014080.4:c.2894C>T;NP_054799.4:p.Ser965Leu 342402573 144153950 ESP2500-chr15-45393430 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 50506 NC_000015.9:g.45393437G>A;NG_009447.1:g.17923C>T;NM_014080.4:c.2887C>T;NP_054799.4:p.Arg963Ter 491494011 199783724 stopgl_210237_chr_15_45393437 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 CLINSEQ_SNP 50506 NC_000015.9:g.45393441G>A;NG_009447.1:g.17919C>T;NM_014080.4:c.2883C>T;NP_054799.4:p.Ser961= 491700083 200985557 SNV-chr15-43180733 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45393459G>T;NG_009447.1:g.17901C>A;NM_014080.4:c.2865C>A;NP_054799.4:p.Ile955= 342402574 145038941 ESP2500-chr15-45393459 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45393488A>G;NG_009447.1:g.17872T>C;NM_014080.4:c.2852-16T>C 489048664 199968378 20110521_exome_198051_chr15_45393488 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393530G>A;NG_009447.1:g.17830C>T;NM_014080.4:c.2852-58C>T 338746304 138726481 20100804_snps_10389845_chr15_45393530 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 1398197 953733 TSC0063685 1.48e-01 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 6588996 953733 NT_010194.13_366467 1.48e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 118207882 953733 NA18507_000028064_NCBI36.1_chr15_43180959 1.48e-01 2009.01.21 2009.01.21 2000.10.05 2012.11.28 137 GMI 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 156481189 953733 GMI_SNP_99774523 1.48e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 169303922 953733 NA19240_36_chr15_43180959 1.48e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 171025040 953733 NA20431_36_chr15_43180959 1.48e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 200783884 953733 BUSHMAN-chr15-43180958 1.48e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 211602064 953733 YRI.trio.3.2010_1261491_chr15_43180959 1.48e-01 2010.03.30 2010.03.30 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 226867373 953733 pilot_1_YRI_8677056_chr15_43180959 1.48e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 236760759 953733 pilot_1_CEU_6365388_chr15_43180959 1.48e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 243150643 953733 pilot_1_CHB+JPT_5035720_chr15_43180959 1.48e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 254944516 953733 SNP28195_15_43180959 1.48e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 282235998 953733 GMI_AK_SNP_6556397 1.48e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 479434756 953733 HumanOmni2.5-4v1_D_kgp10757017-0_B_R_1807254068 1.48e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45393667A>G;NG_009447.1:g.17693T>C;NM_014080.4:c.2852-195T>C 483395454 953733 HumanOmni2.5-4v1_B_SNP15-43180959-0_B_R_1627351249 1.48e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45393711A>G;NG_009447.1:g.17649T>C;NM_014080.4:c.2852-239T>C 200783888 112195377 BUSHMAN-chr15-43181002 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 KWOK 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 351305 269867 OVLP-000621-114849 6.00e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 913765 269867 OVLP-000804-210671 6.00e-03 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 2032137 269867 OVLP-000925-696875 6.00e-03 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 2156555 269867 TSC0520935 6.00e-03 2000.10.19 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 3585387 269867 AC009700.4_130454 6.00e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 5640451 269867 NT_010194.12_366535 6.00e-03 2003.01.10 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 12340650 269867 chr15.NT_010194.15_16183350 6.00e-03 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 19321437 269867 CSHL-HuDD-200402.chr15.NT_010194.16_16184296 6.00e-03 2004.02.20 2006.10.26 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 21298134 269867 WGSA-200403-chr15.chr15.NT_010194.16_16184296 6.00e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 77217847 269867 Cor12156_SNV_20070510.chr15_43181031 6.00e-03 2007.10.10 2007.10.11 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 90140358 269867 JWB-0849082 6.00e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 96754638 269867 1103645599695 6.00e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 106425555 269867 BGI_rs269867 6.00e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 108777122 269867 CEU.trio.12.15.2008_3154478_chr15_43181031 6.00e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 114103065 269867 NA19240_2008_12_16_2830347_chr15_43181031 6.00e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 118207885 269867 NA18507_000028065_NCBI36.1_chr15_43181031 6.00e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 134264802 269867 ENSSNP6913018 6.00e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 136913647 269867 ENSSNP1100319 6.00e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 156481197 269867 GMI_SNP_117377009 6.00e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 167920253 269867 NA07022_36_chr15_43181031 6.00e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 169303939 269867 NA19240_36_chr15_43181031 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 171025050 269867 NA20431_36_chr15_43181031 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 200783891 269867 BUSHMAN-chr15-43181030 6.00e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 207220354 269867 BCM_CMT_1011-2706618 6.00e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 226867374 269867 pilot_1_YRI_8677057_chr15_43181031 6.00e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 236760760 269867 pilot_1_CEU_6365389_chr15_43181031 6.00e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 243150644 269867 pilot_1_CHB+JPT_5035721_chr15_43181031 6.00e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 254944519 269867 SNP28196_15_43181031 6.00e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 282235999 269867 GMI_AK_SNP_6556398 6.00e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45393739C>T;NG_009447.1:g.17621G>A;NM_014080.4:c.2851+252G>A 291828622 269867 SNP_1334980_chr15_43181031 6.00e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45393803C>G;NG_009447.1:g.17557G>C;NM_014080.4:c.2851+188G>C 464140738 182711422 20101123_snps_10307968_chr15_45393803 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45393821G>A;NG_009447.1:g.17539C>T;NM_014080.4:c.2851+170C>T 338746305 149341143 20100804_snps_10389846_chr15_45393821 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45393919C>T;NG_009447.1:g.17441G>A;NM_014080.4:c.2851+72G>A 464140739 187699208 20101123_snps_10307969_chr15_45393919 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45393930G>A;NG_009447.1:g.17430C>T;NM_014080.4:c.2851+61C>T 200783896 78256554 BUSHMAN-chr15-43181221 3.66e-02 2010.03.07 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45393930G>A;NG_009447.1:g.17430C>T;NM_014080.4:c.2851+61C>T 226867375 78256554 pilot_1_YRI_8677058_chr15_43181222 3.66e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394007T>C;NG_009447.1:g.17353A>G;NM_014080.4:c.2835A>G;NP_054799.4:p.Gly945= 167920263 112428007 NA07022_36_chr15_43181299 4.60e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394007T>C;NG_009447.1:g.17353A>G;NM_014080.4:c.2835A>G;NP_054799.4:p.Gly945= 338746306 112428007 20100804_snps_10389847_chr15_45394007 4.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394007T>C;NG_009447.1:g.17353A>G;NM_014080.4:c.2835A>G;NP_054799.4:p.Gly945= 342402575 112428007 ESP2500-chr15-45394007 4.60e-03 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394007T>C;NG_009447.1:g.17353A>G;NM_014080.4:c.2835A>G;NP_054799.4:p.Gly945= 491082247 112428007 20110521_exome_590045_chr15_45394007 4.60e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45394007T>C;NG_009447.1:g.17353A>G;NM_014080.4:c.2835A>G;NP_054799.4:p.Gly945= 491700084 112428007 SNV-chr15-43181299 4.60e-03 2012.03.06 2012.03.13 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394012C>T;NG_009447.1:g.17348G>A;NM_014080.4:c.2830G>A;NP_054799.4:p.Gly944Ser 342402576 143124929 ESP2500-chr15-45394012 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45394013T>C;NG_009447.1:g.17347A>G;NM_014080.4:c.2829A>G;NP_054799.4:p.Lys943= 489048665 201272741 20110521_exome_198052_chr15_45394013 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394042C>T;NG_009447.1:g.17318G>A;NM_014080.4:c.2800G>A;NP_054799.4:p.Glu934Lys 342402577 148333059 ESP2500-chr15-45394042 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45394046G>A;NG_009447.1:g.17314C>T;NM_014080.4:c.2796C>T;NP_054799.4:p.Asp932= 342402578 141644475 ESP2500-chr15-45394046 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394046G>A;NG_009447.1:g.17314C>T;NM_014080.4:c.2796C>T;NP_054799.4:p.Asp932= 489048667 141644475 20110521_exome_198053_chr15_45394046 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394048C>T;NG_009447.1:g.17312G>A;NM_014080.4:c.2794G>A;NP_054799.4:p.Asp932Asn 342402579 147047438 ESP2500-chr15-45394048 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394048C>T;NG_009447.1:g.17312G>A;NM_014080.4:c.2794G>A;NP_054799.4:p.Asp932Asn 489048669 147047438 20110521_exome_198054_chr15_45394048 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45394048C>T;NG_009447.1:g.17312G>A;NM_014080.4:c.2794G>A;NP_054799.4:p.Asp932Asn 491494012 147047438 nonsyn_210238_chr_15_45394048 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394049A>G;NG_009447.1:g.17311T>C;NM_014080.4:c.2793T>C;NP_054799.4:p.His931= 342402580 138306055 ESP2500-chr15-45394049 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394049A>G;NG_009447.1:g.17311T>C;NM_014080.4:c.2793T>C;NP_054799.4:p.His931= 489048671 138306055 20110521_exome_198055_chr15_45394049 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394052G>C;NG_009447.1:g.17308C>G;NM_014080.4:c.2790C>G;NP_054799.4:p.Asp930Glu 338746307 148582136 20100804_snps_10389848_chr15_45394052 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394052G>C;NG_009447.1:g.17308C>G;NM_014080.4:c.2790C>G;NP_054799.4:p.Asp930Glu 491082248 148582136 20110521_exome_590046_chr15_45394052 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394057G>A;NG_009447.1:g.17303C>T;NM_014080.4:c.2785C>T;NP_054799.4:p.Arg929Trp 489048673 200238968 20110521_exome_198056_chr15_45394057 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45394057G>A;NG_009447.1:g.17303C>T;NM_014080.4:c.2785C>T;NP_054799.4:p.Arg929Trp 491494013 200238968 nonsyn_210239_chr_15_45394057 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394101T>C;NG_009447.1:g.17259A>G;NM_014080.4:c.2741A>G;NP_054799.4:p.Gln914Arg 489048675 199694135 20110521_exome_198057_chr15_45394101 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394113T>C;NG_009447.1:g.17247A>G;NM_014080.4:c.2729A>G;NP_054799.4:p.Glu910Gly 342402581 143787928 ESP2500-chr15-45394113 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45394117G>A;NG_009447.1:g.17243C>T;NM_014080.4:c.2725C>T;NP_054799.4:p.Arg909Trp 342402582 150698607 ESP2500-chr15-45394117 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394117G>A;NG_009447.1:g.17243C>T;NM_014080.4:c.2725C>T;NP_054799.4:p.Arg909Trp 489048677 150698607 20110521_exome_198058_chr15_45394117 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45394117G>A;NG_009447.1:g.17243C>T;NM_014080.4:c.2725C>T;NP_054799.4:p.Arg909Trp 491494014 150698607 nonsyn_210240_chr_15_45394117 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394124A>G;NG_009447.1:g.17236T>C;NM_014080.4:c.2718T>C;NP_054799.4:p.Ser906= 489048679 200735161 20110521_exome_198059_chr15_45394124 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394138C>T;NG_009447.1:g.17222G>A;NM_014080.4:c.2704G>A;NP_054799.4:p.Glu902Lys 342402583 138926644 ESP2500-chr15-45394138 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394138C>T;NG_009447.1:g.17222G>A;NM_014080.4:c.2704G>A;NP_054799.4:p.Glu902Lys 464140740 138926644 20101123_snps_10307970_chr15_45394138 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394138C>T;NG_009447.1:g.17222G>A;NM_014080.4:c.2704G>A;NP_054799.4:p.Glu902Lys 491082249 138926644 20110521_exome_590047_chr15_45394138 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45394138C>T;NG_009447.1:g.17222G>A;NM_014080.4:c.2704G>A;NP_054799.4:p.Glu902Lys 491494015 138926644 nonsyn_210241_chr_15_45394138 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394139G>T;NG_009447.1:g.17221C>A;NM_014080.4:c.2703C>A;NP_054799.4:p.Ala901= 342402584 149413147 ESP2500-chr15-45394139 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45394139G>T;NG_009447.1:g.17221C>A;NM_014080.4:c.2703C>A;NP_054799.4:p.Ala901= 491700085 149413147 SNV-chr15-43181431 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45394166G>T;NG_009447.1:g.17194C>A;NM_014080.4:c.2676C>A;NP_054799.4:p.Asn892Lys 342402585 144774906 ESP2500-chr15-45394166 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 YSAMUELS 50506 NC_000015.8:g.43181470G>A NC_000015.9:g.45394178G>A;NG_009447.1:g.17182C>T;NM_014080.4:c.2664C>T;NP_054799.4:p.Ile888= 344940903 140944752 NC_000015.8:g.43181470G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 1000GENOMES 50506 NC_000015.9:g.45394304C>A;NG_009447.1:g.17056G>T;NM_014080.4:c.2655-117G>T 338746308 144035428 20100804_snps_10389849_chr15_45394304 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45394350G>A;NG_009447.1:g.17010C>T;NM_014080.4:c.2655-163C>T 226867376 115806668 pilot_1_YRI_8677059_chr15_43181642 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394390T>C;NG_009447.1:g.16970A>G;NM_014080.4:c.2655-203A>G 464140741 184855289 20101123_snps_10307971_chr15_45394390 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45394399C>G;NG_009447.1:g.16961G>C;NM_014080.4:c.2655-212G>C 338746309 147298434 20100804_snps_10389850_chr15_45394399 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 351304 269866 OVLP-000621-114848 4.25e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 913764 269866 OVLP-000804-210670 4.25e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 2032136 269866 OVLP-000925-696874 4.25e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 3585386 269866 AC009700.4_129787 4.25e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 6588997 269866 NT_010194.13_367206 4.25e-01 2003.02.13 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 16679436 269866 CSHL-HuAA-200402.chr15.NT_010194.16_16184963 4.25e-01 2004.02.18 2004.10.21 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 19322268 269866 CSHL-HuDD-200402.chr15.NT_010194.16_16184963 4.25e-01 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 21231661 269866 WGSA-200403-chr15.chr15.NT_010194.16_16184963 4.25e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 PERLEGEN 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 24491684 269866 afd4150423 4.25e-01 2004.08.21 2004.09.13 2000.07.12 2012.11.28 137 AFFY 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 66071432 269866 SNP_A-1886386 4.25e-01 2006.10.27 2007.08.14 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 66614382 269866 HumanHap300v1.1_rs269866 4.25e-01 2006.11.09 2006.11.09 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 67268188 269866 HumanHap550v1.1_rs269866 4.25e-01 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 67668406 269866 HumanHap650Yv1.0_rs269866 4.25e-01 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 70746611 269866 HumanHap550v3.0__rs269866 4.25e-01 2007.04.20 2008.03.30 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 71318390 269866 HumanHap650Yv3.0_rs269866 4.25e-01 2007.04.23 2007.04.23 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 75457560 269866 ILMN_Human_1M_rs269866 4.25e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 AFFY 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 76001801 269866 AFFY_6_1M_SNP_A-1886386 4.25e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 79143768 269866 HumanHap300v2.0_rs269866 4.25e-01 2007.11.18 2007.11.18 2000.07.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 83408524 269866 KHS454620 4.25e-01 2007.12.05 2007.12.05 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 83469986 269866 Cor18555_SNV_20070510.chr15_43181698 4.25e-01 2007.12.05 2007.12.05 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 90140361 269866 JWB-0849083 4.25e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 96754639 269866 1103645599696 4.25e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 106425556 269866 BGI_rs269866 4.25e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 108777126 269866 CEU.trio.12.15.2008_3154479_chr15_43181698 4.25e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 122086661 269866 HumanCNV370v1_C_rs269866 4.25e-01 2009.04.15 2009.04.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 134264804 269866 ENSSNP10984753 4.25e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 136913645 269866 ENSSNP1100320 4.25e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 154228580 269866 Human610_Quadv1_B_rs269866-128_T_R_1501737740 4.25e-01 2009.06.20 2009.06.20 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 156481203 269866 GMI_SNP_132199948 4.25e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 159405109 269866 Human660W-Quad_v1_A_rs269866-128_T_R_1501737740 4.25e-01 2009.07.07 2009.07.07 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 160570740 269866 HumanOmni1-Quad_v1-0_B_rs269866-128_T_R_1501737740 4.25e-01 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 AFFY 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 170251394 269866 GenomeWideSNP_5_SNP_A-1886386 4.25e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 171025059 269866 NA20431_36_chr15_43181698 4.25e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 171346218 269866 HumanCNV370-Quadv3_C_rs269866-128_T_R_1501737740 4.25e-01 2009.10.01 2009.10.03 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 173433273 269866 Human1M-Duov3_B_rs269866-128_T_R_1501737740 4.25e-01 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 207210372 269866 BCM_CMT_1011-2703293 4.25e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 211602066 269866 YRI.trio.3.2010_1261492_chr15_43181698 4.25e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 226867377 269866 pilot_1_YRI_8677060_chr15_43181698 4.25e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 236760761 269866 pilot_1_CEU_6365390_chr15_43181698 4.25e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 243150645 269866 pilot_1_CHB+JPT_5035722_chr15_43181698 4.25e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 254944526 269866 SNP28197_15_43181698 4.25e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 282236000 269866 GMI_AK_SNP_6556399 4.25e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 291828623 269866 SNP_1334981_chr15_43181698 4.25e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 480638352 269866 HumanOmni2.5-4v1_B_rs269866-128_T_R_1767295074 4.25e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 480653596 269866 HumanOmniExpress-12v1_C_rs269866-131_T_R_1857292705 4.25e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 481497109 269866 HumanOmni1-Quad_v1-0_C_rs269866-131_T_R_1865489197 4.25e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394406G>A;NG_009447.1:g.16954C>T;NM_014080.4:c.2655-219C>T 485114256 269866 HumanOmni2.5-4v1_D_rs269866-131_T_R_1857292705 4.25e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 155622065 75477187 GMI_INDEL-137658 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 287927065 75477187 GMI_NA10851_INDEL_260392 2010.12.20 2010.12.22 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 289254537 75477187 GMI_AK_INDEL_928008 2010.12.28 2011.12.29 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 327663612 75477187 JPTCHB_chr15_43181759_indel 2011.03.12 2011.04.03 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 327779667 75477187 CEU_chr15_43181759_indel 2011.03.13 2011.04.03 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394467_45394468insGT;NG_009447.1:g.16892_16893insAC;NM_014080.4:c.2655-281_2655-280insAC 328161353 75477187 YRI_chr15_43181759_indel 2011.03.13 2011.04.03 2009.12.01 2012.11.28 137 HGSV 50506 NC_000015.9:g.45394471_45394472insGT;NG_009447.1:g.16888_16889insAC;NM_014080.4:c.2655-285_2655-284insAC 82676001 57482502 Cor19240_DIV_20070510.chr15_43181763-43181764_1 2007.12.03 2007.12.03 2007.12.14 2011.07.08 137 HGSV 50506 NC_000015.9:g.45394471_45394472insGT;NG_009447.1:g.16888_16889insAC;NM_014080.4:c.2655-285_2655-284insAC 82906552 57482502 Cor19240_DIV_20070510.chr15_43181763-43181764_2 2007.12.03 2007.12.03 2007.12.14 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45394468_45394469insGT;NG_009447.1:g.16891_16892insAC;NM_014080.4:c.2655-282_2655-281insAC 100647326 66535761 INDEL_GP36_2008a_2278331_0 2008.05.17 2008.05.17 2009.02.04 2012.12.04 137 DEVINE_LAB 50506 NC_000015.9:g.45394468_45394469insGT;NG_009447.1:g.16891_16892insAC;NM_014080.4:c.2655-282_2655-281insAC 100647329 66535761 INDEL_GP36_2008a_2278331_1 2008.05.17 2008.05.17 2009.02.04 2012.12.04 137 1000GENOMES 50506 NC_000015.9:g.45394519C>A;NG_009447.1:g.16841G>T;NM_014080.4:c.2655-332G>T 226867378 116562151 pilot_1_YRI_8677061_chr15_43181811 1.28e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 KWOK 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 351303 269865 OVLP-000621-114847 4.60e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 913763 269865 OVLP-000804-210669 4.60e-03 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 2032135 269865 OVLP-000925-696873 4.60e-03 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 3585385 269865 AC009700.4_129643 4.60e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 6588999 269865 NT_010194.13_367350 4.60e-03 2003.02.13 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 10767110 269865 chr15.NT_010194.15_16184161 4.60e-03 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 16682531 269865 CSHL-HuAA-200402.chr15.NT_010194.16_16185107 4.60e-03 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 19324422 269865 CSHL-HuDD-200402.chr15.NT_010194.16_16185107 4.60e-03 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 21245331 269865 WGSA-200403-chr15.chr15.NT_010194.16_16185107 4.60e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 81636375 269865 Cor18555_SNV_20070510.chr15_43181842 4.60e-03 2007.12.01 2007.12.01 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 82224402 269865 Cor19240_SNV_20070510.chr15_43181842 4.60e-03 2007.12.02 2007.12.02 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 90140363 269865 JWB-0849084 4.60e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 96754640 269865 1103645599697 4.60e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 106425557 269865 BGI_rs269865 4.60e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 108777130 269865 CEU.trio.12.15.2008_3154480_chr15_43181842 4.60e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 114103074 269865 NA19240_2008_12_16_2830348_chr15_43181842 4.60e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 118207887 269865 NA18507_000028066_NCBI36.1_chr15_43181842 4.60e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 134264807 269865 ENSSNP10984754 4.60e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 136913644 269865 ENSSNP1100321 4.60e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 156481212 269865 GMI_SNP_35404882 4.60e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 167920274 269865 NA07022_36_chr15_43181842 4.60e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 169303954 269865 NA19240_36_chr15_43181842 4.60e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 171025071 269865 NA20431_36_chr15_43181842 4.60e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 200783900 269865 BUSHMAN-chr15-43181841 4.60e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 207308808 269865 BCM_CMT_1011-2735817 4.60e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 226867379 269865 pilot_1_YRI_8677062_chr15_43181842 4.60e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 236760762 269865 pilot_1_CEU_6365391_chr15_43181842 4.60e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 243150646 269865 pilot_1_CHB+JPT_5035723_chr15_43181842 4.60e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 254944531 269865 SNP28198_15_43181842 4.60e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 282236001 269865 GMI_AK_SNP_6556400 4.60e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45394550A>G;NG_009447.1:g.16810T>C;NM_014080.4:c.2655-363T>C 291828624 269865 SNP_1334982_chr15_43181842 4.60e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394583G>A;NG_009447.1:g.16777C>T;NM_014080.4:c.2655-396C>T 171025089 111477569 NA20431_36_chr15_43181875 3.07e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394583G>A;NG_009447.1:g.16777C>T;NM_014080.4:c.2655-396C>T 236760763 111477569 pilot_1_CEU_6365392_chr15_43181875 3.07e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394722T>A;NG_009447.1:g.16638A>T;NM_014080.4:c.2655-535A>T 464140742 188925579 20101123_snps_10307972_chr15_45394722 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45394812G>A;NG_009447.1:g.16548C>T;NM_014080.4:c.2655-625C>T 200783903 112473943 BUSHMAN-chr15-43182103 1.42e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394812G>A;NG_009447.1:g.16548C>T;NM_014080.4:c.2655-625C>T 226867380 112473943 pilot_1_YRI_8677063_chr15_43182104 1.42e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394812G>A;NG_009447.1:g.16548C>T;NM_014080.4:c.2655-625C>T 482017198 112473943 HumanOmni2.5-4v1_D_kgp19876525-0_B_R_1833484979 1.42e-02 2012.02.01 2012.02.01 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45394812G>A;NG_009447.1:g.16548C>T;NM_014080.4:c.2655-625C>T 483395456 112473943 HumanOmni2.5-4v1_B_SNP15-43182104-0_B_R_1640369159 1.42e-02 2012.02.02 2012.02.02 2010.07.04 2012.11.28 137 HGSV 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 80234727 56838826 Cor18507_SNV_20070510.chr15_43182213 9.07e-02 2007.11.25 2007.11.25 2007.12.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 118207888 56838826 NA18507_000028067_NCBI36.1_chr15_43182213 9.07e-02 2009.01.21 2009.01.21 2007.12.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 156481219 56838826 GMI_SNP_35674423 9.07e-02 2009.06.25 2009.06.25 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 169303972 56838826 NA19240_36_chr15_43182213 9.07e-02 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 171025101 56838826 NA20431_36_chr15_43182213 9.07e-02 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 200783908 56838826 BUSHMAN-chr15-43182212 9.07e-02 2010.03.07 2010.03.07 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 236760764 56838826 pilot_1_CEU_6365393_chr15_43182213 9.07e-02 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 BL 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 254944536 56838826 SNP28199_15_43182213 9.07e-02 2010.08.19 2010.08.19 2007.12.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45394921T>C;NG_009447.1:g.16439A>G;NM_014080.4:c.2655-734A>G 282236002 56838826 GMI_AK_SNP_6556401 9.07e-02 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45394977C>T;NG_009447.1:g.16383G>A;NM_014080.4:c.2655-790G>A 464140743 191896845 20101123_snps_10307973_chr15_45394977 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395178A>T;NG_009447.1:g.16182T>A;NM_014080.4:c.2654+980T>A 464140744 184374327 20101123_snps_10307974_chr15_45395178 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395195A>C;NG_009447.1:g.16165T>G;NM_014080.4:c.2654+963T>G 464140745 189714805 20101123_snps_10307975_chr15_45395195 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395246C>G;NG_009447.1:g.16114G>C;NM_014080.4:c.2654+912G>C 338746310 140875545 20100804_snps_10389851_chr15_45395246 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395264C>T;NG_009447.1:g.16096G>A;NM_014080.4:c.2654+894G>A 464140746 181347911 20101123_snps_10307976_chr15_45395264 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395421G>A;NG_009447.1:g.15939C>T;NM_014080.4:c.2654+737C>T 338746311 144319633 20100804_snps_10389852_chr15_45395421 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395465C>G;NG_009447.1:g.15895G>C;NM_014080.4:c.2654+693G>C 464140747 185993301 20101123_snps_10307977_chr15_45395465 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 84247188 61626661 Cor19240_SNV_20070510.chr15_43182876 7.37e-02 2007.12.06 2007.12.06 2007.12.16 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 114103090 61626661 NA19240_2008_12_16_2830350_chr15_43182876 7.37e-02 2008.12.18 2008.12.18 2007.12.16 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 118207891 61626661 NA18507_000028068_NCBI36.1_chr15_43182876 7.37e-02 2009.01.21 2009.01.21 2007.12.16 2012.11.28 137 GMI 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 156481225 61626661 GMI_SNP_99822214 7.37e-02 2009.06.25 2009.06.25 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 169303984 61626661 NA19240_36_chr15_43182876 7.37e-02 2009.10.01 2009.10.01 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 171025110 61626661 NA20431_36_chr15_43182876 7.37e-02 2009.10.01 2009.10.01 2007.12.16 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 200783912 61626661 BUSHMAN-chr15-43182875 7.37e-02 2010.03.07 2010.03.07 2007.12.16 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 226867382 61626661 pilot_1_YRI_8677065_chr15_43182876 7.37e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 236760765 61626661 pilot_1_CEU_6365394_chr15_43182876 7.37e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 243150647 61626661 pilot_1_CHB+JPT_5035724_chr15_43182876 7.37e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 BL 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 254944543 61626661 SNP28200_15_43182876 7.37e-02 2010.08.19 2010.08.19 2007.12.16 2012.11.28 137 GMI 50506 NC_000015.9:g.45395584A>G;NG_009447.1:g.15776T>C;NM_014080.4:c.2654+574T>C 282236003 61626661 GMI_AK_SNP_6556402 7.37e-02 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395607C>T;NG_009447.1:g.15753G>A;NM_014080.4:c.2654+551G>A 338746312 151160891 20100804_snps_10389853_chr15_45395607 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 50506 NC_000015.9:g.45395643_45395644insT;NG_009447.1:g.15716_15717insA;NM_014080.4:c.2654+514_2654+515insA 256163679 143847058 SNP1787_15_43182936 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395643_45395644insT;NG_009447.1:g.15716_15717insA;NM_014080.4:c.2654+514_2654+515insA 498906756 143847058 20110316_indels_chr15_45395644_45395645 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 DEVINE_LAB 50506 NC_000015.9:g.45395645delT;NG_009447.1:g.15715delA;NM_014080.4:c.2654+513delA 100856639 72035421 INDEL_GP36_2008a_999718_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 GMI 50506 NC_000015.9:g.45395645_45395646insT;NG_009447.1:g.15714_15715insA;NM_014080.4:c.2654+512_2654+513insA 287927066 143341520 GMI_NA10851_INDEL_260393 2010.12.20 2010.12.22 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45395657G>A;NG_009447.1:g.15703C>T;NM_014080.4:c.2654+501C>T 338746313 139052727 20100804_snps_10389854_chr15_45395657 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395728G>T;NG_009447.1:g.15632C>A;NM_014080.4:c.2654+430C>A 338746314 149871928 20100804_snps_10389855_chr15_45395728 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 351302 269864 OVLP-000621-114846 6.00e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 913762 269864 OVLP-000804-210668 6.00e-03 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 2032134 269864 OVLP-000925-696872 6.00e-03 2000.10.06 2006.10.25 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 3585384 269864 AC009700.4_128434 6.00e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 21268448 269864 WGSA-200403-chr15.chr15.NT_010194.16_16186317 6.00e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 77437807 269864 Cor12156_SNV_20070510.chr15_43183052 6.00e-03 2007.10.13 2007.10.13 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 78309228 269864 Cor12878_SNV_20070510.chr15_43183052 6.00e-03 2007.10.18 2007.10.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 82734616 269864 Cor18555_SNV_20070510.chr15_43183052 6.00e-03 2007.12.03 2007.12.03 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 83047932 269864 Cor18956_SNV_20070510.chr15_43183052 6.00e-03 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 83388357 269864 Cor19240_SNV_20070510.chr15_43183052 6.00e-03 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 90140365 269864 JWB-0849085 6.00e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 96754641 269864 1103645599698 6.00e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 106425558 269864 BGI_rs269864 6.00e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 108777134 269864 CEU.trio.12.15.2008_3154481_chr15_43183052 6.00e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 114103099 269864 NA19240_2008_12_16_2830351_chr15_43183052 6.00e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 118207893 269864 NA18507_000028069_NCBI36.1_chr15_43183052 6.00e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 134264810 269864 ENSSNP7077470 6.00e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 136913643 269864 ENSSNP1100322 6.00e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 156481233 269864 GMI_SNP_99434697 6.00e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 167920286 269864 NA07022_36_chr15_43183052 6.00e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 169304000 269864 NA19240_36_chr15_43183052 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 171025119 269864 NA20431_36_chr15_43183052 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 200783916 269864 BUSHMAN-chr15-43183051 6.00e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 207175268 269864 BCM_CMT_1011-2691580 6.00e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 226867383 269864 pilot_1_YRI_8677066_chr15_43183052 6.00e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 254944549 269864 SNP28201_15_43183052 6.00e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 282236004 269864 GMI_AK_SNP_6556403 6.00e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 291828625 269864 SNP_1334983_chr15_43183052 6.00e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 483313602 269864 HumanOmni2.5-4v1_D_kgp4205272-0_B_F_1806754388 6.00e-03 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45395760G>T;NG_009447.1:g.15600C>A;NM_014080.4:c.2654+398C>A 483395458 269864 HumanOmni2.5-4v1_B_SNP15-43183052-0_B_F_1621783123 6.00e-03 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395790T>G;NG_009447.1:g.15570A>C;NM_014080.4:c.2654+368A>C 338746315 145126564 20100804_snps_10389856_chr15_45395790 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395791G>C;NG_009447.1:g.15569C>G;NM_014080.4:c.2654+367C>G 464140748 189307366 20101123_snps_10307978_chr15_45395791 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45395796A>G;NG_009447.1:g.15564T>C;NM_014080.4:c.2654+362T>C 200783920 112432895 BUSHMAN-chr15-43183087 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395796A>G;NG_009447.1:g.15564T>C;NM_014080.4:c.2654+362T>C 226867384 112432895 pilot_1_YRI_8677067_chr15_43183088 1.47e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45395797C>T;NG_009447.1:g.15563G>A;NM_014080.4:c.2654+361G>A 464140749 181899709 20101123_snps_10307979_chr15_45395797 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395810G>A;NG_009447.1:g.15550C>T;NM_014080.4:c.2654+348C>T 464140750 186576571 20101123_snps_10307980_chr15_45395810 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45395820G>A;NG_009447.1:g.15540C>T;NM_014080.4:c.2654+338C>T 226867385 116780398 pilot_1_YRI_8677068_chr15_43183112 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395881G>A;NG_009447.1:g.15479C>T;NM_014080.4:c.2654+277C>T 338746316 141101638 20100804_snps_10389857_chr15_45395881 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 50506 NC_000015.9:g.45395902delT;NG_009447.1:g.15458delA;NM_014080.4:c.2654+256delA 155622074 75922593 GMI_INDEL-137659 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45395902delT;NG_009447.1:g.15458delA;NM_014080.4:c.2654+256delA 193381206 75922593 BUSHMAN-chr15-43183193-43183194 2010.02.16 2010.02.16 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45395902delT;NG_009447.1:g.15458delA;NM_014080.4:c.2654+256delA 289254538 75922593 GMI_AK_INDEL_928009 2010.12.28 2011.12.29 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45395939G>T;NG_009447.1:g.15421C>A;NM_014080.4:c.2654+219C>A 464140751 191038967 20101123_snps_10307981_chr15_45395939 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 50506 NC_000015.9:g.45395956_45395959delCAGA;NG_009447.1:g.15401_15404delTCTG;NM_014080.4:c.2654+199_2654+202delTCTG 5019520 3833011 IMS-JST094452 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45396014delT;NG_009447.1:g.15346delA;NM_014080.4:c.2654+144delA 15151977 10713454 INDEL_GP34_WGS_250008 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45396157C>T;NG_009447.1:g.15203G>A;NM_014080.4:c.2654+1G>A 342402586 139890337 ESP2500-chr15-45396157 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45396158C>A;NG_009447.1:g.15202G>T;NM_014080.4:c.2654G>T;NP_054799.4:p.Arg885Leu 464140752 181461079 20101123_snps_10307982_chr15_45396158 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396158C>A;NG_009447.1:g.15202G>T;NM_014080.4:c.2654G>T;NP_054799.4:p.Arg885Leu 491082250 181461079 20110521_exome_590048_chr15_45396158 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45396158C>A;NG_009447.1:g.15202G>T;NM_014080.4:c.2654G>T;NP_054799.4:p.Arg885Leu 491494016 181461079 splice_210242_chr_15_45396158 1.40e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396159G>A;NG_009447.1:g.15201C>T;NM_014080.4:c.2653C>T;NP_054799.4:p.Arg885Ter 489048681 199589510 20110521_exome_198060_chr15_45396159 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45396203T>C;NG_009447.1:g.15157A>G;NM_014080.4:c.2609A>G;NP_054799.4:p.Asp870Gly 342402587 143258582 ESP2500-chr15-45396203 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45396203T>C;NG_009447.1:g.15157A>G;NM_014080.4:c.2609A>G;NP_054799.4:p.Asp870Gly 491494017 143258582 nonsyn_210243_chr_15_45396203 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45396215A>C;NG_009447.1:g.15145T>G;NM_014080.4:c.2597T>G;NP_054799.4:p.Met866Arg 491700086 200948626 SNV-chr15-43183507 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396229A>T;NG_009447.1:g.15131T>A;NM_014080.4:c.2583T>A;NP_054799.4:p.Arg861= 338746317 144824844 20100804_snps_10389858_chr15_45396229 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396229A>T;NG_009447.1:g.15131T>A;NM_014080.4:c.2583T>A;NP_054799.4:p.Arg861= 491082251 144824844 20110521_exome_590049_chr15_45396229 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45396231G>A;NG_009447.1:g.15129C>T;NM_014080.4:c.2581C>T;NP_054799.4:p.Arg861Cys 491700087 201955961 SNV-chr15-43183523 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45396241C>G;NG_009447.1:g.15119G>C;NM_014080.4:c.2571G>C;NP_054799.4:p.Glu857Asp 342402588 146200405 ESP2500-chr15-45396241 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45396289T>C;NG_009447.1:g.15071A>G;NM_014080.4:c.2561-38A>G 200783923 113684942 BUSHMAN-chr15-43183580 1.69e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396289T>C;NG_009447.1:g.15071A>G;NM_014080.4:c.2561-38A>G 338746318 113684942 20100804_snps_10389859_chr15_45396289 1.69e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396289T>C;NG_009447.1:g.15071A>G;NM_014080.4:c.2561-38A>G 491082252 113684942 20110521_exome_590050_chr15_45396289 1.69e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396294G>A;NG_009447.1:g.15066C>T;NM_014080.4:c.2561-43C>T 226867386 114725682 pilot_1_YRI_8677069_chr15_43183586 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396294G>A;NG_009447.1:g.15066C>T;NM_014080.4:c.2561-43C>T 491082253 114725682 20110521_exome_590051_chr15_45396294 2.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45396343A>C;NG_009447.1:g.15017T>G;NM_014080.4:c.2555T>G;NP_054799.4:p.Met852Arg 134264814 75846445 ENSSNP10984756 2009.05.13 2009.05.15 2009.12.01 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45396354C>G;NG_009447.1:g.15006G>C;NM_014080.4:c.2544G>C;NP_054799.4:p.Leu848= 342402589 139095108 ESP2500-chr15-45396354 2.70e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396354C>G;NG_009447.1:g.15006G>C;NM_014080.4:c.2544G>C;NP_054799.4:p.Leu848= 464140753 139095108 20101123_snps_10307983_chr15_45396354 2.70e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396354C>G;NG_009447.1:g.15006G>C;NM_014080.4:c.2544G>C;NP_054799.4:p.Leu848= 491082254 139095108 20110521_exome_590052_chr15_45396354 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45396354C>G;NG_009447.1:g.15006G>C;NM_014080.4:c.2544G>C;NP_054799.4:p.Leu848= 491700088 139095108 SNV-chr15-43183646 2.70e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 OMIM-CURATED-RECORDS 50506 NP_054799.4:p.ARG842TER NC_000015.9:g.45396374G>A;NG_009447.1:g.14986C>T;NM_014080.4:c.2524C>T;NP_054799.4:p.Arg842Ter 254226896 119472028 14079 germline pathogenic 2010.08.19 2010.08.19 2010.08.19 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45396374G>A;NG_009447.1:g.14986C>T;NM_014080.4:c.2524C>T;NP_054799.4:p.Arg842Ter 491494018 119472028 stopgl_210244_chr_15_45396374 germline pathogenic 2012.03.05 2012.03.05 2010.08.19 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45396434T>C;NG_009447.1:g.14926A>G;NM_014080.4:c.2464A>G;NP_054799.4:p.Met822Val 342402590 143972092 ESP2500-chr15-45396434 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45396434T>C;NG_009447.1:g.14926A>G;NM_014080.4:c.2464A>G;NP_054799.4:p.Met822Val 491494019 143972092 nonsyn_210245_chr_15_45396434 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45396441G>A;NG_009447.1:g.14919C>T;NM_014080.4:c.2457C>T;NP_054799.4:p.Pro819= 342402591 151013553 ESP2500-chr15-45396441 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CORNELL 50506 NC_000015.9:g.45396475C>T;NG_009447.1:g.14885G>A;NM_014080.4:c.2423G>A;NP_054799.4:p.Arg808Lys 86241636 61747115 hCV22273606 2008.01.21 2010.09.29 2008.03.23 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45396500C>T;NG_009447.1:g.14860G>A;NM_014080.4:c.2398G>A;NP_054799.4:p.Glu800Lys 342402592 139612074 ESP2500-chr15-45396500 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 50506 NC_000015.9:g.45396503G>A;NG_009447.1:g.14857C>T;NM_014080.4:c.2395C>T;NP_054799.4:p.Arg799Trp 491494020 200104538 nonsyn_210246_chr_15_45396503 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45396503G>A;NG_009447.1:g.14857C>T;NM_014080.4:c.2395C>T;NP_054799.4:p.Arg799Trp 491700089 200104538 SNV-chr15-43183795 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 CORNELL 50506 NC_000015.9:g.45396504C>T;NG_009447.1:g.14856G>A;NM_014080.4:c.2394G>A;NP_054799.4:p.Val798= 86257878 61753432 hCV25922129 2008.01.21 2010.09.29 2008.03.23 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45396511T>C;NG_009447.1:g.14849A>G;NM_014080.4:c.2387A>G;NP_054799.4:p.Gln796Arg 342402593 149731856 ESP2500-chr15-45396511 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45396526G>A;NG_009447.1:g.14834C>T;NM_014080.4:c.2372C>T;NP_054799.4:p.Pro791Leu 342402594 145561119 ESP2500-chr15-45396526 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45396540G>A;NG_009447.1:g.14820C>T;NM_014080.4:c.2358C>T;NP_054799.4:p.Asp786= 338746319 140319655 20100804_snps_10389860_chr15_45396540 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45396563C>T;NG_009447.1:g.14797G>A;NM_014080.4:c.2335G>A;NP_054799.4:p.Val779Met 338746320 145061993 20100804_snps_10389861_chr15_45396563 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396563C>T;NG_009447.1:g.14797G>A;NM_014080.4:c.2335G>A;NP_054799.4:p.Val779Met 491082255 145061993 20110521_exome_590053_chr15_45396563 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45396563C>T;NG_009447.1:g.14797G>A;NM_014080.4:c.2335G>A;NP_054799.4:p.Val779Met 491494021 145061993 splice_210247_chr_15_45396563 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396612T>C;NG_009447.1:g.14748A>G;NM_014080.4:c.2335-49A>G 226867387 80095330 pilot_1_YRI_8677070_chr15_43183904 2.56e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45396612T>C;NG_009447.1:g.14748A>G;NM_014080.4:c.2335-49A>G 482062840 80095330 HumanOmni2.5-4v1_D_kgp20046924-0_T_R_1834085738 2.56e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45396612T>C;NG_009447.1:g.14748A>G;NM_014080.4:c.2335-49A>G 483395460 80095330 HumanOmni2.5-4v1_B_SNP15-43183904-0_T_R_1640312388 2.56e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396612T>C;NG_009447.1:g.14748A>G;NM_014080.4:c.2335-49A>G 491082256 80095330 20110521_exome_590054_chr15_45396612 2.56e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45396732C>T;NG_009447.1:g.14628G>A;NM_014080.4:c.2335-169G>A 338746321 148317487 20100804_snps_10389862_chr15_45396732 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 50506 NC_000015.9:g.45396743A>G;NG_009447.1:g.14617T>C;NM_014080.4:c.2335-180T>C 134264816 74757350 ENSSNP10984757 2009.05.13 2009.05.15 2009.12.01 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45396750A>G;NG_009447.1:g.14610T>C;NM_014080.4:c.2335-187T>C 200783927 113078084 BUSHMAN-chr15-43184041 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45396750A>G;NG_009447.1:g.14610T>C;NM_014080.4:c.2335-187T>C 226867388 113078084 pilot_1_YRI_8677071_chr15_43184042 1.47e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45396785G>A;NG_009447.1:g.14575C>T;NM_014080.4:c.2335-222C>T 226867389 75594679 pilot_1_YRI_8677072_chr15_43184077 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ABI 50506 NC_000015.9:g.45396982delA;NG_009447.1:g.14378delT;NM_014080.4:c.2335-419delT 40581629 34345973 hCV33987877 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45397029G>A;NG_009447.1:g.14331C>T;NM_014080.4:c.2335-466C>T 464140754 191342694 20101123_snps_10307984_chr15_45397029 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45397203G>A;NG_009447.1:g.14157C>T;NM_014080.4:c.2334+638C>T 338746322 141433708 20100804_snps_10389863_chr15_45397203 2.79e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45397211G>T;NG_009447.1:g.14149C>A;NM_014080.4:c.2334+630C>A 464140755 183147820 20101123_snps_10307985_chr15_45397211 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45397280A>G;NG_009447.1:g.14080T>C;NM_014080.4:c.2334+561T>C 464140756 187839681 20101123_snps_10307986_chr15_45397280 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45397310C>T;NG_009447.1:g.14050G>A;NM_014080.4:c.2334+531G>A 464140757 190977929 20101123_snps_10307987_chr15_45397310 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45397557A>G;NG_009447.1:g.13803T>C;NM_014080.4:c.2334+284T>C 338746323 150400635 20100804_snps_10389864_chr15_45397557 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 351301 269863 OVLP-000621-114845 2.66e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 913761 269863 OVLP-000804-210667 2.66e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 2032133 269863 OVLP-000925-696871 2.66e-01 2000.10.06 2004.08.05 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 3617602 269863 AC012255.4_148738 2.66e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 16664329 269863 CSHL-HuAA-200402.chr15.NT_010194.16_16188123 2.66e-01 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 17531967 269863 CSHL-HuCC-200402.chr15.NT_010194.16_16188123 2.66e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 21236117 269863 WGSA-200403-chr15.chr15.NT_010194.16_16188123 2.66e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 43774629 269863 hCV2409602 2.66e-01 2005.07.18 2005.07.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 84458771 269863 Cor18555_SNV_20070510.chr15_43184858 2.66e-01 2007.12.07 2007.12.07 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 90140366 269863 JWB-0849086 2.66e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 96754642 269863 1103645599699 2.66e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 106425559 269863 BGI_rs269863 2.66e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 108777138 269863 CEU.trio.12.15.2008_3154482_chr15_43184858 2.66e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 134264819 269863 ENSSNP6156023 2.66e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 136913642 269863 ENSSNP1100323 2.66e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 156481240 269863 GMI_SNP_149056914 2.66e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 167920296 269863 NA07022_36_chr15_43184858 2.66e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 171025129 269863 NA20431_36_chr15_43184858 2.66e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 207201339 269863 BCM_CMT_1011-2700280 2.66e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 211602068 269863 YRI.trio.3.2010_1261493_chr15_43184858 2.66e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 226867390 269863 pilot_1_YRI_8677073_chr15_43184858 2.66e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 236760766 269863 pilot_1_CEU_6365395_chr15_43184858 2.66e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 243150648 269863 pilot_1_CHB+JPT_5035725_chr15_43184858 2.66e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 254944553 269863 SNP28202_15_43184858 2.66e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 282236005 269863 GMI_AK_SNP_6556404 2.66e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45397566G>C;NG_009447.1:g.13794C>G;NM_014080.4:c.2334+275C>G 291828626 269863 SNP_1334984_chr15_43184858 2.66e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397610A>C;NG_009447.1:g.13750T>G;NM_014080.4:c.2334+231T>G 464140758 182213208 20101123_snps_10307988_chr15_45397610 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45397776A>G;NG_009447.1:g.13584T>C;NM_014080.4:c.2334+65T>C 226867391 114252237 pilot_1_YRI_8677074_chr15_43185068 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 114103101 73406330 NA19240_2008_12_16_2830352_chr15_43185123 1.41e-01 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 118207894 73406330 NA18507_000028070_NCBI36.1_chr15_43185123 1.41e-01 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 156481243 73406330 GMI_SNP_35763669 1.41e-01 2009.06.25 2009.06.25 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 169304018 73406330 NA19240_36_chr15_43185123 1.41e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 171025138 73406330 NA20431_36_chr15_43185123 1.41e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 200783930 73406330 BUSHMAN-chr15-43185122 1.41e-01 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 226867392 73406330 pilot_1_YRI_8677075_chr15_43185123 1.41e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 236760767 73406330 pilot_1_CEU_6365396_chr15_43185123 1.41e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 243150649 73406330 pilot_1_CHB+JPT_5035726_chr15_43185123 1.41e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 254944559 73406330 SNP28203_15_43185123 1.41e-01 2010.08.19 2010.08.19 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 282236006 73406330 GMI_AK_SNP_6556405 1.41e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 491082257 73406330 20110521_exome_590055_chr15_45397831 1.41e-01 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45397831G>A;NG_009447.1:g.13529C>T;NM_014080.4:c.2334+10C>T 491700090 73406330 SNV-chr15-43185123 1.41e-01 2012.03.06 2012.03.13 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397884C>T;NG_009447.1:g.13476G>A;NM_014080.4:c.2291G>A;NP_054799.4:p.Arg764Gln 489048683 201884203 20110521_exome_198061_chr15_45397884 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45397885G>A;NG_009447.1:g.13475C>T;NM_014080.4:c.2290C>T;NP_054799.4:p.Arg764Trp 342402595 141291775 ESP2500-chr15-45397885 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397885G>A;NG_009447.1:g.13475C>T;NM_014080.4:c.2290C>T;NP_054799.4:p.Arg764Trp 464140759 141291775 20101123_snps_10307989_chr15_45397885 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397885G>A;NG_009447.1:g.13475C>T;NM_014080.4:c.2290C>T;NP_054799.4:p.Arg764Trp 491082258 141291775 20110521_exome_590056_chr15_45397885 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45397885G>A;NG_009447.1:g.13475C>T;NM_014080.4:c.2290C>T;NP_054799.4:p.Arg764Trp 491494022 141291775 nonsyn_210248_chr_15_45397885 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 114103112 73406334 NA19240_2008_12_16_2830353_chr15_43185181 6.50e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 118207896 73406334 NA18507_000028071_NCBI36.1_chr15_43185181 6.50e-02 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 156481254 73406334 GMI_SNP_35719166 6.50e-02 2009.06.25 2009.06.25 2009.02.14 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 159730603 73406334 DUOX2-43185181 6.50e-02 2009.07.10 2009.07.10 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 169304032 73406334 NA19240_36_chr15_43185181 6.50e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 171025152 73406334 NA20431_36_chr15_43185181 6.50e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 200783933 73406334 BUSHMAN-chr15-43185180 6.50e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 226867393 73406334 pilot_1_YRI_8677076_chr15_43185181 6.50e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 236760768 73406334 pilot_1_CEU_6365397_chr15_43185181 6.50e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 243150650 73406334 pilot_1_CHB+JPT_5035727_chr15_43185181 6.50e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 282236007 73406334 GMI_AK_SNP_6556406 6.50e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 342402596 73406334 ESP2500-chr15-45397889 6.50e-02 2011.03.26 2011.03.26 2009.02.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 479397273 73406334 HumanOmni2.5-4v1_D_kgp10657541-0_T_R_1806786034 6.50e-02 2012.01.30 2012.01.30 2009.02.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 483395462 73406334 HumanOmni2.5-4v1_B_SNP15-43185181-0_T_R_1627342387 6.50e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 491082259 73406334 20110521_exome_590057_chr15_45397889 6.50e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45397889C>T;NG_009447.1:g.13471G>A;NM_014080.4:c.2286G>A;NP_054799.4:p.Gln762= 491700091 73406334 SNV-chr15-43185181 6.50e-02 2012.03.06 2012.03.13 2009.02.14 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45397932T>G;NG_009447.1:g.13428A>C;NM_014080.4:c.2243A>C;NP_054799.4:p.Glu748Ala 342402597 147686237 ESP2500-chr15-45397932 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45397963C>A;NG_009447.1:g.13397G>T;NM_014080.4:c.2212G>T;NP_054799.4:p.Val738Leu 342402598 142350563 ESP2500-chr15-45397963 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45397968A>T;NG_009447.1:g.13392T>A;NM_014080.4:c.2207T>A;NP_054799.4:p.Phe736Tyr 342402599 143229362 ESP2500-chr15-45397968 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45397993C>T;NG_009447.1:g.13367G>A;NM_014080.4:c.2182G>A;NP_054799.4:p.Ala728Thr 338746324 138353181 20100804_snps_10389865_chr15_45397993 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45397993C>T;NG_009447.1:g.13367G>A;NM_014080.4:c.2182G>A;NP_054799.4:p.Ala728Thr 342402600 138353181 ESP2500-chr15-45397993 1.01e-02 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45397993C>T;NG_009447.1:g.13367G>A;NM_014080.4:c.2182G>A;NP_054799.4:p.Ala728Thr 491082260 138353181 20110521_exome_590058_chr15_45397993 1.01e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45397993C>T;NG_009447.1:g.13367G>A;NM_014080.4:c.2182G>A;NP_054799.4:p.Ala728Thr 491494023 138353181 nonsyn_210249_chr_15_45397993 1.01e-02 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45397993C>T;NG_009447.1:g.13367G>A;NM_014080.4:c.2182G>A;NP_054799.4:p.Ala728Thr 491700092 138353181 SNV-chr15-43185285 1.01e-02 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45397999G>A;NG_009447.1:g.13361C>T;NM_014080.4:c.2176C>T;NP_054799.4:p.Arg726Trp 342402601 141573582 ESP2500-chr15-45397999 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45397999G>A;NG_009447.1:g.13361C>T;NM_014080.4:c.2176C>T;NP_054799.4:p.Arg726Trp 491494024 141573582 nonsyn_210250_chr_15_45397999 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398089C>G;NG_009447.1:g.13271G>C;NM_014080.4:c.2149-63G>C 226867394 79849154 pilot_1_YRI_8677077_chr15_43185381 1.33e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45398127C>T;NG_009447.1:g.13233G>A;NM_014080.4:c.2149-101G>A 226867395 115012702 pilot_1_YRI_8677078_chr15_43185419 8.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 114103122 73406335 NA19240_2008_12_16_2830354_chr15_43185523 1.21e-01 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 118207898 73406335 NA18507_000028072_NCBI36.1_chr15_43185523 1.21e-01 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 156481261 73406335 GMI_SNP_35144950 1.21e-01 2009.06.25 2009.06.25 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 169304049 73406335 NA19240_36_chr15_43185523 1.21e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 171025157 73406335 NA20431_36_chr15_43185523 1.21e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 200783936 73406335 BUSHMAN-chr15-43185522 1.21e-01 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 226867396 73406335 pilot_1_YRI_8677079_chr15_43185523 1.21e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 236760769 73406335 pilot_1_CEU_6365398_chr15_43185523 1.21e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 243150651 73406335 pilot_1_CHB+JPT_5035728_chr15_43185523 1.21e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 254944564 73406335 SNP28204_15_43185523 1.21e-01 2010.08.19 2010.08.19 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398231T>G;NG_009447.1:g.13129A>C;NM_014080.4:c.2148+92A>C 282236008 73406335 GMI_AK_SNP_6556407 1.21e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 114103128 73406337 NA19240_2008_12_16_2830355_chr15_43185606 6.55e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 118207900 73406337 NA18507_000028073_NCBI36.1_chr15_43185606 6.55e-02 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 156481268 73406337 GMI_SNP_237087186 6.55e-02 2009.06.25 2009.06.25 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 169304065 73406337 NA19240_36_chr15_43185606 6.55e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 171025168 73406337 NA20431_36_chr15_43185606 6.55e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 200783940 73406337 BUSHMAN-chr15-43185605 6.55e-02 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 226867397 73406337 pilot_1_YRI_8677080_chr15_43185606 6.55e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 236760770 73406337 pilot_1_CEU_6365399_chr15_43185606 6.55e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 243150652 73406337 pilot_1_CHB+JPT_5035729_chr15_43185606 6.55e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 254944570 73406337 SNP28205_15_43185606 6.55e-02 2010.08.19 2010.08.19 2009.02.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 282236009 73406337 GMI_AK_SNP_6556408 6.55e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 483395464 73406337 HumanOmni2.5-4v1_B_SNP15-43185606-0_B_R_1627276954 6.55e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 484115552 73406337 HumanOmni2.5-4v1_D_kgp8578494-0_B_R_1807224956 6.55e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 491082261 73406337 20110521_exome_590059_chr15_45398314 6.55e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398314G>A;NG_009447.1:g.13046C>T;NM_014080.4:c.2148+9C>T 491700093 73406337 SNV-chr15-43185606 6.55e-02 2012.03.06 2012.03.13 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398349G>T;NG_009447.1:g.13011C>A;NM_014080.4:c.2122C>A;NP_054799.4:p.Leu708Ile 464140760 192568006 20101123_snps_10307990_chr15_45398349 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 171025178 113400262 NA20431_36_chr15_43185661 3.11e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 236760771 113400262 pilot_1_CEU_6365400_chr15_43185661 3.11e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 342402602 113400262 ESP2500-chr15-45398369 3.11e-02 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 480900282 113400262 HumanOmni2.5-4v1_D_kgp1562299-0_B_F_1807237297 3.11e-02 2012.01.31 2012.01.31 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 483395466 113400262 HumanOmni2.5-4v1_B_SNP15-43185661-0_B_F_1643672304 3.11e-02 2012.02.02 2012.02.02 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 491082262 113400262 20110521_exome_590060_chr15_45398369 3.11e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 491494025 113400262 nonsyn_210251_chr_15_45398369 3.11e-02 2012.03.05 2012.03.05 2010.07.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398369C>T;NG_009447.1:g.12991G>A;NM_014080.4:c.2102G>A;NP_054799.4:p.Arg701Gln 491700094 113400262 SNV-chr15-43185661 3.11e-02 2012.03.06 2012.03.13 2010.07.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398370G>A;NG_009447.1:g.12990C>T;NM_014080.4:c.2101C>T;NP_054799.4:p.Arg701Ter 491700095 201109959 SNV-chr15-43185662 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 OMIM-CURATED-RECORDS 50506 NP_054799.4:p.GLN686TER NC_000015.9:g.45398415G>A;NG_009447.1:g.12945C>T;NM_014080.4:c.2056C>T;NP_054799.4:p.Gln686Ter 254226890 119472027 14078 germline pathogenic 2010.08.19 2010.08.19 2010.08.19 2012.09.29 137 WI_SSAHASNP 50506 NC_000015.9:g.45398423C>A;NC_000015.9:g.45398423C>T;NG_009447.1:g.12937G>A;NG_009447.1:g.12937G>T;NM_014080.4:c.2048G>A;NM_014080.4:c.2048G>T;NP_054799.4:p.Arg683His;NP_054799.4:p.Arg683Leu 12317181 8028305 chr15.NT_010194.15_16188034 5.00e-04 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398423C>A;NC_000015.9:g.45398423C>T;NG_009447.1:g.12937G>A;NG_009447.1:g.12937G>T;NM_014080.4:c.2048G>A;NM_014080.4:c.2048G>T;NP_054799.4:p.Arg683His;NP_054799.4:p.Arg683Leu 489048685 8028305 20110521_exome_198062_chr15_45398423 5.00e-04 2012.02.13 2012.02.13 2003.07.11 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45398423C>A;NC_000015.9:g.45398423C>T;NG_009447.1:g.12937G>A;NG_009447.1:g.12937G>T;NM_014080.4:c.2048G>A;NM_014080.4:c.2048G>T;NP_054799.4:p.Arg683His;NP_054799.4:p.Arg683Leu 491494026 8028305 nonsyn_210252_chr_15_45398423 5.00e-04 2012.03.05 2012.03.05 2003.07.11 2012.11.28 137 HGSV 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 80735249 57659670 Cor18507_SNV_20070510.chr15_43185730 1.50e-01 2007.11.26 2007.11.26 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 114103139 57659670 NA19240_2008_12_16_2830356_chr15_43185730 1.50e-01 2008.12.18 2008.12.18 2007.12.14 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 118207902 57659670 NA18507_000028074_NCBI36.1_chr15_43185730 1.50e-01 2009.01.21 2009.01.21 2007.12.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 156481275 57659670 GMI_SNP_35296139 1.50e-01 2009.06.25 2009.06.25 2007.12.14 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 159730604 57659670 DUOX2-43185730 1.50e-01 2009.07.10 2009.07.10 2007.12.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 161051035 57659670 HumanOmni1-Quad_v1-0_B_SNP15-43185730-0_T_R_1588103462 1.50e-01 2009.08.07 2009.10.05 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 169304080 57659670 NA19240_36_chr15_43185730 1.50e-01 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 171025188 57659670 NA20431_36_chr15_43185730 1.50e-01 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 200783943 57659670 BUSHMAN-chr15-43185729 1.50e-01 2010.03.07 2010.03.07 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 226867398 57659670 pilot_1_YRI_8677081_chr15_43185730 1.50e-01 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 236760772 57659670 pilot_1_CEU_6365401_chr15_43185730 1.50e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 243150653 57659670 pilot_1_CHB+JPT_5035730_chr15_43185730 1.50e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 GMI 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 282236010 57659670 GMI_AK_SNP_6556409 1.50e-01 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 342402603 57659670 ESP2500-chr15-45398438 1.50e-01 2011.03.26 2011.03.26 2007.12.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 479405208 57659670 HumanOmni1-Quad_v1-0_C_kgp471958-0_T_R_1806877967 1.50e-01 2012.01.30 2012.01.30 2007.12.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 483395468 57659670 HumanOmni2.5-4v1_B_SNP15-43185730-0_T_R_1627412969 1.50e-01 2012.02.02 2012.02.02 2007.12.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 483408395 57659670 HumanOmni2.5-4v1_D_kgp471958-0_T_R_1806877967 1.50e-01 2012.02.02 2012.02.02 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 491082263 57659670 20110521_exome_590061_chr15_45398438 1.50e-01 2012.02.22 2012.02.22 2007.12.14 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 491494027 57659670 nonsyn_210253_chr_15_45398438 1.50e-01 2012.03.05 2012.03.05 2007.12.14 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398438T>C;NG_009447.1:g.12922A>G;NM_014080.4:c.2033A>G;NP_054799.4:p.His678Arg 491700096 57659670 SNV-chr15-43185730 1.50e-01 2012.03.06 2012.03.13 2007.12.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398440C>A;NG_009447.1:g.12920G>T;NM_014080.4:c.2031G>T;NP_054799.4:p.Arg677Ser 489048687 199896919 20110521_exome_198063_chr15_45398440 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398464G>A;NG_009447.1:g.12896C>T;NM_014080.4:c.2007C>T;NP_054799.4:p.Asp669= 342402604 142904043 ESP2500-chr15-45398464 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 HGSV 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 85917061 58361817 Cor19129_SNV_20070510.chr15_43185801 5.86e-02 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 114103146 58361817 NA19240_2008_12_16_2830357_chr15_43185801 5.86e-02 2008.12.18 2008.12.18 2007.12.15 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 118207904 58361817 NA18507_000028075_NCBI36.1_chr15_43185801 5.86e-02 2009.01.21 2009.01.21 2007.12.15 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 159730605 58361817 DUOX2-43185801 5.86e-02 2009.07.10 2009.07.10 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 226867399 58361817 pilot_1_YRI_8677082_chr15_43185801 5.86e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 342402605 58361817 ESP2500-chr15-45398509 5.86e-02 2011.03.26 2011.03.26 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 491082264 58361817 20110521_exome_590062_chr15_45398509 5.86e-02 2012.02.22 2012.02.22 2007.12.15 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398509G>A;NG_009447.1:g.12851C>T;NM_014080.4:c.1962C>T;NP_054799.4:p.Gly654= 491700097 58361817 SNV-chr15-43185801 5.86e-02 2012.03.06 2012.03.13 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398629T>C;NG_009447.1:g.12731A>G;NM_014080.4:c.1945+97A>G 226867400 79757509 pilot_1_YRI_8677083_chr15_43185921 2.01e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45398679C>G;NG_009447.1:g.12681G>C;NM_014080.4:c.1945+47G>C 489048689 202205165 20110521_exome_198064_chr15_45398679 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398687C>T;NG_009447.1:g.12673G>A;NM_014080.4:c.1945+39G>A 489048690 199935584 20110521_exome_198065_chr15_45398687 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398701C>T;NG_009447.1:g.12659G>A;NM_014080.4:c.1945+25G>A 464140761 184242931 20101123_snps_10307991_chr15_45398701 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398701C>T;NG_009447.1:g.12659G>A;NM_014080.4:c.1945+25G>A 491082265 184242931 20110521_exome_590063_chr15_45398701 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398750C>T;NG_009447.1:g.12610G>A;NM_014080.4:c.1921G>A;NP_054799.4:p.Glu641Lys 342402606 139161034 ESP2500-chr15-45398750 2.30e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398750C>T;NG_009447.1:g.12610G>A;NM_014080.4:c.1921G>A;NP_054799.4:p.Glu641Lys 464140762 139161034 20101123_snps_10307992_chr15_45398750 2.30e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398750C>T;NG_009447.1:g.12610G>A;NM_014080.4:c.1921G>A;NP_054799.4:p.Glu641Lys 491082266 139161034 20110521_exome_590064_chr15_45398750 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45398750C>T;NG_009447.1:g.12610G>A;NM_014080.4:c.1921G>A;NP_054799.4:p.Glu641Lys 491494028 139161034 nonsyn_210254_chr_15_45398750 2.30e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45398750C>T;NG_009447.1:g.12610G>A;NM_014080.4:c.1921G>A;NP_054799.4:p.Glu641Lys 491700098 139161034 SNV-chr15-43186042 2.30e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398759C>T;NG_009447.1:g.12601G>A;NM_014080.4:c.1912G>A;NP_054799.4:p.Val638Met 464140763 192880210 20101123_snps_10307993_chr15_45398759 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398759C>T;NG_009447.1:g.12601G>A;NM_014080.4:c.1912G>A;NP_054799.4:p.Val638Met 491082267 192880210 20110521_exome_590065_chr15_45398759 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45398759C>T;NG_009447.1:g.12601G>A;NM_014080.4:c.1912G>A;NP_054799.4:p.Val638Met 491494029 192880210 nonsyn_210255_chr_15_45398759 5.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398760G>A;NG_009447.1:g.12600C>T;NM_014080.4:c.1911C>T;NP_054799.4:p.Ser637= 338746325 144100380 20100804_snps_10389866_chr15_45398760 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398760G>A;NG_009447.1:g.12600C>T;NM_014080.4:c.1911C>T;NP_054799.4:p.Ser637= 342402607 144100380 ESP2500-chr15-45398760 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398760G>A;NG_009447.1:g.12600C>T;NM_014080.4:c.1911C>T;NP_054799.4:p.Ser637= 491082268 144100380 20110521_exome_590066_chr15_45398760 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45398775C>T;NG_009447.1:g.12585G>A;NM_014080.4:c.1896G>A;NP_054799.4:p.Lys632= 342402608 143872498 ESP2500-chr15-45398775 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GMI 50506 NC_000015.9:g.45398788delT;NG_009447.1:g.12572delA;NM_014080.4:c.1883delA;NP_054799.4:p.Lys628Argfs 289254539 200592893 GMI_AK_INDEL_928010 2010.12.28 2011.12.29 2012.05.04 2012.05.04 137 NHLBI-ESP 50506 NC_000015.9:g.45398791T>C;NG_009447.1:g.12569A>G;NM_014080.4:c.1880A>G;NP_054799.4:p.His627Arg 342402609 148702234 ESP2500-chr15-45398791 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45398804G>A;NG_009447.1:g.12556C>T;NM_014080.4:c.1867C>T;NP_054799.4:p.Arg623Trp 342402610 142226749 ESP2500-chr15-45398804 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45398823A>T;NG_009447.1:g.12537T>A;NM_014080.4:c.1848T>A;NP_054799.4:p.Ser616= 342402611 147838135 ESP2500-chr15-45398823 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45398835A>G;NG_009447.1:g.12525T>C;NM_014080.4:c.1836T>C;NP_054799.4:p.Ser612= 342402612 139688032 ESP2500-chr15-45398835 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 HGSV 50506 NC_000015.9:g.45398873G>A;NG_009447.1:g.12487C>T;NM_014080.4:c.1832-34C>T 85722791 59248053 Cor18517_SNV_20070510.chr15_43186165 1.80e-03 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45398873G>A;NG_009447.1:g.12487C>T;NM_014080.4:c.1832-34C>T 200783948 59248053 BUSHMAN-chr15-43186164 1.80e-03 2010.03.07 2010.03.07 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398873G>A;NG_009447.1:g.12487C>T;NM_014080.4:c.1832-34C>T 338746326 59248053 20100804_snps_10389867_chr15_45398873 1.80e-03 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398873G>A;NG_009447.1:g.12487C>T;NM_014080.4:c.1832-34C>T 491082269 59248053 20110521_exome_590067_chr15_45398873 1.80e-03 2012.02.22 2012.02.22 2007.12.15 2012.11.28 137 KWOK 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 351300 269862 OVLP-000621-114844 1.44e-01 2000.06.30 2006.10.25 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 913760 269862 OVLP-000804-210666 1.44e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 2032132 269862 OVLP-000925-696870 1.44e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 3617603 269862 AC012255.4_150135 1.44e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 10775051 269862 chr15.NT_010194.15_16188576 1.44e-01 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 12319383 269862 chr15.NT_010194.15_16188576 1.44e-01 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 16669360 269862 CSHL-HuAA-200402.chr15.NT_010194.16_16189522 1.44e-01 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 17535247 269862 CSHL-HuCC-200402.chr15.NT_010194.16_16189522 1.44e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 20000610 269862 CSHL-HuFF-200402.chr15.NT_010194.16_16189522 1.44e-01 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 21258845 269862 WGSA-200403-chr15.chr15.NT_010194.16_16189522 1.44e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 65759401 269862 Human1-rs269862 1.44e-01 2006.10.10 2006.10.10 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 74878368 269862 ILMN_Human_1M_rs269862 1.44e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 81378734 269862 Cor18507_SNV_20070510.chr15_43186257 1.44e-01 2007.11.29 2007.11.29 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 90140369 269862 JWB-0849087 1.44e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 96754643 269862 1103645599700 1.44e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 106425560 269862 BGI_rs269862 1.44e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 108777142 269862 CEU.trio.12.15.2008_3154483_chr15_43186257 1.44e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 114103148 269862 NA19240_2008_12_16_2830358_chr15_43186257 1.44e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 118207906 269862 NA18507_000028076_NCBI36.1_chr15_43186257 1.44e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 119347302 269862 KHS1509549 1.44e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 134264822 269862 ENSSNP10984759 1.44e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 136913640 269862 ENSSNP1100324 1.44e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 156481282 269862 GMI_SNP_35388201 1.44e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 160570739 269862 HumanOmni1-Quad_v1-0_B_rs269862-128_B_R_1513898680 1.44e-01 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 167920305 269862 NA07022_36_chr15_43186257 1.44e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 169304099 269862 NA19240_36_chr15_43186257 1.44e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 171025198 269862 NA20431_36_chr15_43186257 1.44e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 173433270 269862 Human1M-Duov3_B_rs269862-128_B_R_1513898680 1.44e-01 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 200783952 269862 BUSHMAN-chr15-43186256 1.44e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 207279522 269862 BCM_CMT_1011-2726145 1.44e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 226867401 269862 pilot_1_YRI_8677084_chr15_43186257 1.44e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 236760773 269862 pilot_1_CEU_6365402_chr15_43186257 1.44e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 243150654 269862 pilot_1_CHB+JPT_5035731_chr15_43186257 1.44e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 282236011 269862 GMI_AK_SNP_6556410 1.44e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 291828627 269862 SNP_1334985_chr15_43186257 1.44e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 480638348 269862 HumanOmni2.5-4v1_B_rs269862-128_B_R_1772843654 1.44e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 480653592 269862 HumanOmniExpress-12v1_C_rs269862-131_B_R_1857292704 1.44e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 481497105 269862 HumanOmni1-Quad_v1-0_C_rs269862-131_B_R_1865334123 1.44e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45398965G>T;NG_009447.1:g.12395C>A;NM_014080.4:c.1831+65C>A 485114254 269862 HumanOmni2.5-4v1_D_rs269862-131_B_R_1857292704 1.44e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399025C>G;NG_009447.1:g.12335G>C;NM_014080.4:c.1831+5G>C 489048692 201688711 20110521_exome_198066_chr15_45399025 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399036G>A;NG_009447.1:g.12324C>T;NM_014080.4:c.1825C>T;NP_054799.4:p.Pro609Ser 489048694 201221237 20110521_exome_198067_chr15_45399036 1.40e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45399064G>A;NG_009447.1:g.12296C>T;NM_014080.4:c.1797C>T;NP_054799.4:p.Ala599= 200783955 113852603 BUSHMAN-chr15-43186355 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45399064G>A;NG_009447.1:g.12296C>T;NM_014080.4:c.1797C>T;NP_054799.4:p.Ala599= 342402613 113852603 ESP2500-chr15-45399064 2011.03.26 2011.03.26 2010.07.04 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45399129C>T;NG_009447.1:g.12231G>A;NM_014080.4:c.1732G>A;NP_054799.4:p.Gly578Ser 489048696 200194628 20110521_exome_198068_chr15_45399129 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45399150G>T;NG_009447.1:g.12210C>A;NM_014080.4:c.1711C>A;NP_054799.4:p.Pro571Thr 342402614 147702726 ESP2500-chr15-45399150 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45399163T>A;NG_009447.1:g.12197A>T;NM_014080.4:c.1698A>T;NP_054799.4:p.Ala566= 464140764 184936441 20101123_snps_10307994_chr15_45399163 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399163T>A;NG_009447.1:g.12197A>T;NM_014080.4:c.1698A>T;NP_054799.4:p.Ala566= 491082270 184936441 20110521_exome_590068_chr15_45399163 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45399169T>A;NG_009447.1:g.12191A>T;NM_014080.4:c.1694-2A>T 491494030 201188869 splice_210256_chr_15_45399169 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 YUSUKE 50506 NC_000015.9:g.45399281C>T;NG_009447.1:g.12079G>A;NM_014080.4:c.1694-114G>A 3229357 2288261 IMS-JST039441 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399311C>T;NG_009447.1:g.12049G>A;NM_014080.4:c.1694-144G>A 226867402 78922026 pilot_1_YRI_8677085_chr15_43186603 2.01e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45399311C>T;NG_009447.1:g.12049G>A;NM_014080.4:c.1694-144G>A 482017944 78922026 HumanOmni2.5-4v1_D_kgp19879088-0_T_R_1833493105 2.01e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45399311C>T;NG_009447.1:g.12049G>A;NM_014080.4:c.1694-144G>A 483395470 78922026 HumanOmni2.5-4v1_B_SNP15-43186603-0_T_R_1640361669 2.01e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ABI 50506 NC_000015.9:g.45399325_45399326insG;NG_009447.1:g.12034_12035insC;NM_014080.4:c.1694-159_1694-158insC 40570217 35578506 hCV33987878 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 CSHL-HAPMAP 50506 NC_000015.9:g.45399345T>C;NG_009447.1:g.12015A>G;NM_014080.4:c.1694-178A>G 16686767 11636949 CSHL-HuAA-200402.chr15.NT_010194.16_16189902 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 ENSEMBL 50506 NC_000015.9:g.45399345T>C;NG_009447.1:g.12015A>G;NM_014080.4:c.1694-178A>G 161715370 11636949 ENSSNP1100325 2009.09.25 2009.09.25 2004.02.28 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45399366G>A;NG_009447.1:g.11994C>T;NM_014080.4:c.1693+177C>T 236760774 117974015 pilot_1_CEU_6365403_chr15_43186658 6.40e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45399366G>A;NG_009447.1:g.11994C>T;NM_014080.4:c.1693+177C>T 483395472 117974015 HumanOmni2.5-4v1_B_SNP15-43186658-0_T_F_1621745572 6.40e-03 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45399366G>A;NG_009447.1:g.11994C>T;NM_014080.4:c.1693+177C>T 483906694 117974015 HumanOmni2.5-4v1_D_kgp7425924-0_T_F_1807310529 6.40e-03 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 KWOK 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 251652 190599 OVLP-000621-114843 1.47e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 1066647 190599 OVLP-000804-210665 1.47e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 2074295 190599 OVLP-000925-696869 1.47e-01 2000.10.07 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 3229356 190599 IMS-JST039440 1.47e-01 2001.09.05 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 3617604 190599 AC012255.4_150637 1.47e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 16681096 190599 CSHL-HuAA-200402.chr15.NT_010194.16_16190024 1.47e-01 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 21238768 190599 WGSA-200403-chr15.chr15.NT_010194.16_16190024 1.47e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 77147227 190599 Cor12156_SNV_20070510.chr15_43186759 1.47e-01 2007.10.09 2007.10.11 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 78050639 190599 Cor12878_SNV_20070510.chr15_43186759 1.47e-01 2007.10.17 2007.10.17 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 84245146 190599 Cor19129_SNV_20070510.chr15_43186759 1.47e-01 2007.12.06 2007.12.06 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 90140370 190599 JWB-0849088 1.47e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 96754644 190599 1103645599701 1.47e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 106425561 190599 BGI_rs190599 1.47e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 108777146 190599 CEU.trio.12.15.2008_3154484_chr15_43186759 1.47e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 114103158 190599 NA19240_2008_12_16_2830359_chr15_43186759 1.47e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 118207909 190599 NA18507_000028077_NCBI36.1_chr15_43186759 1.47e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 134264825 190599 ENSSNP6815269 1.47e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 136913639 190599 ENSSNP1100326 1.47e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 156481289 190599 GMI_SNP_35460104 1.47e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 167920318 190599 NA07022_36_chr15_43186759 1.47e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 171025207 190599 NA20431_36_chr15_43186759 1.47e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 200783959 190599 BUSHMAN-chr15-43186758 1.47e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 207340624 190599 BCM_CMT_1011-2746505 1.47e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 226867403 190599 pilot_1_YRI_8677086_chr15_43186759 1.47e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 236760775 190599 pilot_1_CEU_6365404_chr15_43186759 1.47e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 243150655 190599 pilot_1_CHB+JPT_5035732_chr15_43186759 1.47e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 254944577 190599 SNP28206_15_43186759 1.47e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 282236012 190599 GMI_AK_SNP_6556411 1.47e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 291828628 190599 SNP_1334986_chr15_43186759 1.47e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45399467A>G;NG_009447.1:g.11893T>C;NM_014080.4:c.1693+76T>C 491700099 190599 SNV-chr15-43186759 1.47e-01 2012.03.06 2012.03.13 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399478C>T;NG_009447.1:g.11882G>A;NM_014080.4:c.1693+65G>A 464140765 189443607 20101123_snps_10307995_chr15_45399478 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45399533C>T;NG_009447.1:g.11827G>A;NM_014080.4:c.1693+10G>A 226867404 76411432 pilot_1_YRI_8677087_chr15_43186825 2.01e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399533C>T;NG_009447.1:g.11827G>A;NM_014080.4:c.1693+10G>A 491082271 76411432 20110521_exome_590069_chr15_45399533 2.01e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45399550C>G;NG_009447.1:g.11810G>C;NM_014080.4:c.1686G>C;NP_054799.4:p.Trp562Cys 342402615 142407409 ESP2500-chr15-45399550 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45399601G>A;NG_009447.1:g.11759C>T;NM_014080.4:c.1635C>T;NP_054799.4:p.Val545= 342402616 150204962 ESP2500-chr15-45399601 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45399615G>T;NG_009447.1:g.11745C>A;NM_014080.4:c.1621C>A;NP_054799.4:p.Arg541= 338746327 140940946 20100804_snps_10389868_chr15_45399615 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45399615G>T;NG_009447.1:g.11745C>A;NM_014080.4:c.1621C>A;NP_054799.4:p.Arg541= 342402617 140940946 ESP2500-chr15-45399615 2.30e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399615G>T;NG_009447.1:g.11745C>A;NM_014080.4:c.1621C>A;NP_054799.4:p.Arg541= 491082272 140940946 20110521_exome_590070_chr15_45399615 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45399615G>T;NG_009447.1:g.11745C>A;NM_014080.4:c.1621C>A;NP_054799.4:p.Arg541= 491700100 140940946 SNV-chr15-43186907 2.30e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45399619G>A;NG_009447.1:g.11741C>T;NM_014080.4:c.1617C>T;NP_054799.4:p.Thr539= 342402618 148918239 ESP2500-chr15-45399619 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45399648T>A;NG_009447.1:g.11712A>T;NM_014080.4:c.1588A>T;NP_054799.4:p.Lys530Ter 464140766 180671269 20101123_snps_10307996_chr15_45399648 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399648T>A;NG_009447.1:g.11712A>T;NM_014080.4:c.1588A>T;NP_054799.4:p.Lys530Ter 491082273 180671269 20110521_exome_590071_chr15_45399648 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45399648T>A;NG_009447.1:g.11712A>T;NM_014080.4:c.1588A>T;NP_054799.4:p.Lys530Ter 491494031 180671269 stopgl_210257_chr_15_45399648 1.40e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45399721C>A;NG_009447.1:g.11639G>T;NM_014080.4:c.1575-60G>T 491700101 201587639 SNV-chr15-43187013 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399826G>T;NG_009447.1:g.11534C>A;NM_014080.4:c.1575-165C>A 464140767 183821059 20101123_snps_10307997_chr15_45399826 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45399898A>C;NG_009447.1:g.11462T>G;NM_014080.4:c.1575-237T>G 464140768 189322941 20101123_snps_10307998_chr15_45399898 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45399905C>T;NG_009447.1:g.11455G>A;NM_014080.4:c.1575-244G>A 464140769 182015671 20101123_snps_10307999_chr15_45399905 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45399908G>A;NG_009447.1:g.11452C>T;NM_014080.4:c.1575-247C>T 338746329 144511256 20100804_snps_10389870_chr15_45399908 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 222282 166574 OVLP-000621-114842 2.53e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 990701 166574 OVLP-000804-210664 2.53e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 2038930 166574 OVLP-000925-696868 2.53e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 3585383 166574 AC009700.4_124201 2.53e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 16666676 166574 CSHL-HuAA-200402.chr15.NT_010194.16_16190549 2.53e-01 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 21246692 166574 WGSA-200403-chr15.chr15.NT_010194.16_16190549 2.53e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 40619148 166574 hCV26909509 2.53e-01 2005.07.17 2005.07.17 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 90140372 166574 JWB-0849089 2.53e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 96754645 166574 1103645599702 2.53e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 106425562 166574 BGI_rs166574 2.53e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 134264828 166574 ENSSNP6923598 2.53e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 136913637 166574 ENSSNP1100327 2.53e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 156481296 166574 GMI_SNP_99879911 2.53e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 167920329 166574 NA07022_36_chr15_43187284 2.53e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 171025220 166574 NA20431_36_chr15_43187284 2.53e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 200783964 166574 BUSHMAN-chr15-43187283 2.53e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 207341337 166574 BCM_CMT_1011-2746741 2.53e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 254944584 166574 SNP28207_15_43187284 2.53e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 282236013 166574 GMI_AK_SNP_6556412 2.53e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 291828629 166574 SNP_1334987_chr15_43187284 2.53e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45399992T>C;NG_009447.1:g.11368A>G;NM_014080.4:c.1574+253A>G 338746330 166574 20100804_snps_10389871_chr15_45399992 2.53e-01 2011.03.22 2011.03.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400014A>C;NG_009447.1:g.11346T>G;NM_014080.4:c.1574+231T>G 338746331 142530819 20100804_snps_10389872_chr15_45400014 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 50506 NC_000015.9:g.45400048_45400049insA;NG_009447.1:g.11311_11312insT;NM_014080.4:c.1574+196_1574+197insT 40616249 36025213 hCV33987879 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 50506 NC_000015.9:g.45400049_45400050insA;NG_009447.1:g.11310_11311insT;NM_014080.4:c.1574+195_1574+196insT 80524128 60611048 Cor18507_DIV_20070510.chr15_43187362-43187363_1 2007.11.25 2007.11.25 2007.12.16 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400049_45400050insA;NG_009447.1:g.11310_11311insT;NM_014080.4:c.1574+195_1574+196insT 95657125 60611048 1104685389385 2008.03.22 2008.12.03 2007.12.16 2012.11.28 137 DEVINE_LAB 50506 NC_000015.9:g.45400049_45400050insA;NG_009447.1:g.11310_11311insT;NM_014080.4:c.1574+195_1574+196insT 101567296 60611048 INDEL_GP36_2008a_2135799_0 2008.05.17 2008.05.17 2007.12.16 2012.11.28 137 DEVINE_LAB 50506 NC_000015.9:g.45400049_45400050insA;NG_009447.1:g.11310_11311insT;NM_014080.4:c.1574+195_1574+196insT 101567299 60611048 INDEL_GP36_2008a_2135799_1 2008.05.17 2008.05.17 2007.12.16 2012.11.28 137 DEVINE_LAB 50506 NC_000015.9:g.45400065_45400066insAAAAG;NG_009447.1:g.11294_11295insCTTTT;NM_014080.4:c.1574+179_1574+180insCTTTT 15081450 10650941 INDEL_GP34_WGS_171322 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 BL 50506 NC_000015.9:g.45400065A>G;NG_009447.1:g.11295T>C;NM_014080.4:c.1574+180T>C 254944592 150620109 SNP28208_15_43187357 2010.08.19 2010.08.19 2011.05.09 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45400066_45400067insAAAAG;NG_009447.1:g.11293_11294insCTTTT;NM_014080.4:c.1574+178_1574+179insCTTTT 99746402 71764548 INDEL_GP36_2007a_527416_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45400084delA;NG_009447.1:g.11276delT;NM_014080.4:c.1574+161delT 15248022 11366449 INDEL_GP34_WGS_381878 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45400084delA;NG_009447.1:g.11276delT;NM_014080.4:c.1574+161delT 99735489 11366449 INDEL_GP36_2007a_527417_0 2008.05.06 2008.05.06 2004.02.28 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45400084delA;NG_009447.1:g.11276delT;NM_014080.4:c.1574+161delT 193381208 11366449 BUSHMAN-chr15-43187375-43187376 2010.02.16 2010.02.16 2004.02.28 2011.07.08 137 PJP 50506 NC_000015.9:g.45400084delA;NG_009447.1:g.11276delT;NM_014080.4:c.1574+161delT 294857556 11366449 DIP_295260_chr15_43187376 2011.01.22 2011.01.22 2004.02.28 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45400079_45400080insAAAAG;NG_009447.1:g.11280_11281insCTTTT;NM_014080.4:c.1574+165_1574+166insCTTTT 327663615 150831750 JPTCHB_chr15_43187376_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45400079_45400080insAAAAG;NG_009447.1:g.11280_11281insCTTTT;NM_014080.4:c.1574+165_1574+166insCTTTT 327779669 150831750 CEU_chr15_43187376_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45400079_45400080insAAAAG;NG_009447.1:g.11280_11281insCTTTT;NM_014080.4:c.1574+165_1574+166insCTTTT 328161354 150831750 YRI_chr15_43187376_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 DEVINE_LAB 50506 NC_000015.9:g.45400085_45400086insAAAAG;NG_009447.1:g.11274_11275insCTTTT;NM_014080.4:c.1574+159_1574+160insCTTTT 102134537 72367407 INDEL_GP36_2008a_2135800_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400086_45400087insA;NC_000015.9:g.45400086_45400087insG;NG_009447.1:g.11273_11274insC;NG_009447.1:g.11273_11274insT;NM_014080.4:c.1574+158_1574+159insC;NM_014080.4:c.1574+158_1574+159insT 96754646 67787870 1103645599703 2008.03.27 2008.03.27 2009.02.06 2011.07.08 137 HGSV 50506 NC_000015.9:g.45400090_45400091insAAAGA;NG_009447.1:g.11269_11270insTCTTT;NM_014080.4:c.1574+154_1574+155insTCTTT 80524132 58052033 Cor18507_DIV_20070510.chr15_43187382-43187383_1 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400090_45400091insAAAGA;NG_009447.1:g.11269_11270insTCTTT;NM_014080.4:c.1574+154_1574+155insTCTTT 82971973 58052033 Cor19240_DIV_20070510.chr15_43187382-43187383_1 2007.12.04 2007.12.04 2007.12.15 2012.11.28 137 GMI 50506 NC_000015.9:g.45400090_45400091insAAAGA;NG_009447.1:g.11269_11270insTCTTT;NM_014080.4:c.1574+154_1574+155insTCTTT 289254540 58052033 GMI_AK_INDEL_928011 2010.12.28 2011.12.29 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45400091G>A;NG_009447.1:g.11269C>T;NM_014080.4:c.1574+154C>T 207376973 113971373 BCM_CMT_1011-2758535 2010.03.18 2010.03.18 2010.07.04 2012.11.28 137 GMI 50506 NC_000015.9:g.45400091G>A;NG_009447.1:g.11269C>T;NM_014080.4:c.1574+154C>T 282236014 113971373 GMI_AK_SNP_6556413 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400100_45400101insGAAGA;NG_009447.1:g.11259_11260insTCTTC;NM_014080.4:c.1574+144_1574+145insTCTTC 95657126 71114310 1104685389384 2008.03.22 2008.12.03 2009.02.13 2011.07.08 137 ENSEMBL 50506 NC_000015.9:g.45400106A>G;NG_009447.1:g.11254T>C;NM_014080.4:c.1574+139T>C 134264831 75196712 ENSSNP10984762 2009.05.13 2009.05.15 2009.12.01 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45400122G>A;NG_009447.1:g.11238C>T;NM_014080.4:c.1574+123C>T 226867405 116831463 pilot_1_YRI_8677088_chr15_43187414 2.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 KWOK 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 351299 269861 OVLP-000621-114840 1.64e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 913759 269861 OVLP-000804-210662 1.64e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 2032131 269861 OVLP-000925-696866 1.64e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 3585382 269861 AC009700.4_124023 1.64e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 21247843 269861 WGSA-200403-chr15.chr15.NT_010194.16_16190721 1.64e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 78503795 269861 Cor18507_SNV_20070510.chr15_43187456 1.64e-01 2007.10.19 2007.10.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 81642416 269861 Cor19240_SNV_20070510.chr15_43187456 1.64e-01 2007.12.01 2007.12.01 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 90140374 269861 JWB-0849090 1.64e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 96754647 269861 1103645599710 1.64e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 106425563 269861 BGI_rs269861 1.64e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 108777156 269861 CEU.trio.12.15.2008_3154486_chr15_43187456 1.64e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 114103164 269861 NA19240_2008_12_16_2830360_chr15_43187456 1.64e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 118207911 269861 NA18507_000028078_NCBI36.1_chr15_43187456 1.64e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 134264834 269861 ENSSNP10984763 1.64e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 136913636 269861 ENSSNP1100328 1.64e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 156481303 269861 GMI_SNP_71178903 1.64e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 167920342 269861 NA07022_36_chr15_43187456 1.64e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 169304115 269861 NA19240_36_chr15_43187456 1.64e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 171025228 269861 NA20431_36_chr15_43187456 1.64e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 200783967 269861 BUSHMAN-chr15-43187455 1.64e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 207279287 269861 BCM_CMT_1011-2726067 1.64e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 226867406 269861 pilot_1_YRI_8677089_chr15_43187456 1.64e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 236760776 269861 pilot_1_CEU_6365405_chr15_43187456 1.64e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 243150656 269861 pilot_1_CHB+JPT_5035733_chr15_43187456 1.64e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 254944597 269861 SNP28209_15_43187456 1.64e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 282236015 269861 GMI_AK_SNP_6556414 1.64e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45400164T>C;NG_009447.1:g.11196A>G;NM_014080.4:c.1574+81A>G 291828630 269861 SNP_1334988_chr15_43187456 1.64e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400215G>A;NG_009447.1:g.11145C>T;NM_014080.4:c.1574+30C>T 464140770 186913113 20101123_snps_10308000_chr15_45400215 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400215G>A;NG_009447.1:g.11145C>T;NM_014080.4:c.1574+30C>T 491082274 186913113 20110521_exome_590072_chr15_45400215 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ABI 50506 NC_000015.9:g.45400272_45400273insT;NG_009447.1:g.11087_11088insA;NM_014080.4:c.1546_1547insA;NP_054799.4:p.Arg516delinsGlnLeufs 40585496 36109082 hCV33987881 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45400272C>T;NG_009447.1:g.11088G>A;NM_014080.4:c.1547G>A;NP_054799.4:p.Arg516His 342402619 143818717 ESP2500-chr15-45400272 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400272C>T;NG_009447.1:g.11088G>A;NM_014080.4:c.1547G>A;NP_054799.4:p.Arg516His 489048698 143818717 20110521_exome_198069_chr15_45400272 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45400272C>T;NG_009447.1:g.11088G>A;NM_014080.4:c.1547G>A;NP_054799.4:p.Arg516His 491494032 143818717 nonsyn_210258_chr_15_45400272 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45400273G>A;NG_009447.1:g.11087C>T;NM_014080.4:c.1546C>T;NP_054799.4:p.Arg516Cys 342402620 138461488 ESP2500-chr15-45400273 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45400273G>A;NG_009447.1:g.11087C>T;NM_014080.4:c.1546C>T;NP_054799.4:p.Arg516Cys 491494033 138461488 nonsyn_210259_chr_15_45400273 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45400303C>T;NG_009447.1:g.11057G>A;NM_014080.4:c.1516G>A;NP_054799.4:p.Asp506Asn 491494034 200134167 nonsyn_210260_chr_15_45400303 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 50506 NC_000015.9:g.45400304G>A;NG_009447.1:g.11056C>T;NM_014080.4:c.1515C>T;NP_054799.4:p.Leu505= 342402621 142972079 ESP2500-chr15-45400304 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400304G>A;NG_009447.1:g.11056C>T;NM_014080.4:c.1515C>T;NP_054799.4:p.Leu505= 489048700 142972079 20110521_exome_198070_chr15_45400304 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400323A>G;NG_009447.1:g.11037T>C;NM_014080.4:c.1496T>C;NP_054799.4:p.Leu499Pro 489048702 200826034 20110521_exome_198071_chr15_45400323 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GMI 50506 NC_000015.9:g.45400357C>T;NG_009447.1:g.11003G>A;NM_014080.4:c.1462G>A;NP_054799.4:p.Gly488Arg 282236016 191759494 GMI_AK_SNP_6556415 5.00e-04 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400357C>T;NG_009447.1:g.11003G>A;NM_014080.4:c.1462G>A;NP_054799.4:p.Gly488Arg 464140771 191759494 20101123_snps_10308001_chr15_45400357 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400357C>T;NG_009447.1:g.11003G>A;NM_014080.4:c.1462G>A;NP_054799.4:p.Gly488Arg 491082275 191759494 20110521_exome_590073_chr15_45400357 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 351298 269860 OVLP-000621-114839 1.17e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 913758 269860 OVLP-000804-210661 1.17e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 2032130 269860 OVLP-000925-696865 1.17e-01 2000.10.06 2004.05.16 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 3617605 269860 AC012255.4_151528 1.17e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 21244844 269860 WGSA-200403-chr15.chr15.NT_010194.16_16190915 1.17e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 APPLERA_GI 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 48429653 269860 hCV2409607 1.17e-01 2005.11.30 2006.11.03 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 77764198 269860 Cor12156_SNV_20070510.chr15_43187650 1.17e-01 2007.10.14 2007.10.14 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 78711244 269860 Cor12878_SNV_20070510.chr15_43187650 1.17e-01 2007.10.20 2007.10.20 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 90140376 269860 JWB-0849091 1.17e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 96754648 269860 1103645599711 1.17e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 106425564 269860 BGI_rs269860 1.17e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 108777159 269860 CEU.trio.12.15.2008_3154487_chr15_43187650 1.17e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 114103172 269860 NA19240_2008_12_16_2830361_chr15_43187650 1.17e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 118207913 269860 NA18507_000028079_NCBI36.1_chr15_43187650 1.17e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 134264837 269860 ENSSNP10984764 1.17e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 136913634 269860 ENSSNP1100329 1.17e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 156481310 269860 GMI_SNP_35441224 1.17e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 159730606 269860 DUOX2-43187650 1.17e-01 2009.07.10 2009.07.10 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 160570738 269860 HumanOmni1-Quad_v1-0_B_rs269860-128_T_F_1562388023 1.17e-01 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 167920355 269860 NA07022_36_chr15_43187650 1.17e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 169304131 269860 NA19240_36_chr15_43187650 1.17e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 171025237 269860 NA20431_36_chr15_43187650 1.17e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 200783972 269860 BUSHMAN-chr15-43187649 1.17e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 207295836 269860 BCM_CMT_1011-2731452 1.17e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 226867407 269860 pilot_1_YRI_8677090_chr15_43187650 1.17e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 236760777 269860 pilot_1_CEU_6365406_chr15_43187650 1.17e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 254944602 269860 SNP28210_15_43187650 1.17e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 282236017 269860 GMI_AK_SNP_6556416 1.17e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 291828631 269860 SNP_1334989_chr15_43187650 1.17e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 342402622 269860 ESP2500-chr15-45400358 1.17e-01 2011.03.26 2011.03.26 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 481497100 269860 HumanOmni1-Quad_v1-0_C_rs269860-131_T_F_1863358374 1.17e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 491082276 269860 20110521_exome_590074_chr15_45400358 1.17e-01 2012.02.22 2012.02.22 2000.07.12 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45400358C>G;NG_009447.1:g.11002G>C;NM_014080.4:c.1461G>C;NP_054799.4:p.Gly487= 491700102 269860 SNV-chr15-43187650 1.17e-01 2012.03.06 2012.03.13 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400391G>T;NG_009447.1:g.10969C>A;NM_014080.4:c.1428C>A;NP_054799.4:p.Asn476Lys 489048704 199918362 20110521_exome_198072_chr15_45400391 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45400391G>T;NG_009447.1:g.10969C>A;NM_014080.4:c.1428C>A;NP_054799.4:p.Asn476Lys 491494035 199918362 nonsyn_210261_chr_15_45400391 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45400404G>T;NG_009447.1:g.10956C>A;NM_014080.4:c.1415C>A;NP_054799.4:p.Ala472Asp 491494036 201703879 nonsyn_210262_chr_15_45400404 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45400404G>T;NG_009447.1:g.10956C>A;NM_014080.4:c.1415C>A;NP_054799.4:p.Ala472Asp 491700103 201703879 SNV-chr15-43187696 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400442G>A;NG_009447.1:g.10918C>T;NM_014080.4:c.1399-22C>T 489048706 201859667 20110521_exome_198073_chr15_45400442 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400449G>A;NG_009447.1:g.10911C>T;NM_014080.4:c.1399-29C>T 236760778 117599686 pilot_1_CEU_6365407_chr15_43187741 9.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400449G>A;NG_009447.1:g.10911C>T;NM_014080.4:c.1399-29C>T 491082277 117599686 20110521_exome_590075_chr15_45400449 9.60e-03 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45400449G>A;NG_009447.1:g.10911C>T;NM_014080.4:c.1399-29C>T 491700104 117599686 SNV-chr15-43187741 9.60e-03 2012.03.06 2012.03.13 2010.07.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400450C>T;NG_009447.1:g.10910G>A;NM_014080.4:c.1399-30G>A 226867408 79570265 pilot_1_YRI_8677091_chr15_43187742 2.01e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400450C>T;NG_009447.1:g.10910G>A;NM_014080.4:c.1399-30G>A 491082278 79570265 20110521_exome_590076_chr15_45400450 2.01e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45400479T>A;NG_009447.1:g.10881A>T;NM_014080.4:c.1399-59A>T 16670663 11632000 CSHL-HuAA-200402.chr15.NT_010194.16_16191036 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45400510C>T;NG_009447.1:g.10850G>A;NM_014080.4:c.1399-90G>A 464140772 181370421 20101123_snps_10308002_chr15_45400510 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 50506 NC_000015.9:g.45400564G>T;NG_009447.1:g.10796C>A;NM_014080.4:c.1399-144C>A 16686027 11636726 CSHL-HuAA-200402.chr15.NT_010194.16_16191121 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45400611_45400612insG;NG_009447.1:g.10748_10749insC;NM_014080.4:c.1399-192_1399-191insC 498906759 200873281 20110316_indels_chr15_45400611_45400612 8.93e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 261790 199137 OVLP-000621-114838 6.00e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 1012945 199137 OVLP-000804-210660 6.00e-03 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 2060814 199137 OVLP-000925-696864 6.00e-03 2000.10.07 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 3617606 199137 AC012255.4_151782 6.00e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 21260400 199137 WGSA-200403-chr15.chr15.NT_010194.16_16191169 6.00e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 43695596 199137 hCV2409608 6.00e-03 2005.07.18 2005.07.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 77393953 199137 Cor12156_SNV_20070510.chr15_43187904 6.00e-03 2007.10.10 2007.10.12 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 78280392 199137 Cor12878_SNV_20070510.chr15_43187904 6.00e-03 2007.10.18 2007.10.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 81401379 199137 Cor18507_SNV_20070510.chr15_43187904 6.00e-03 2007.11.29 2007.11.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 85130733 199137 Cor19129_SNV_20070510.chr15_43187904 6.00e-03 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 90140379 199137 JWB-0849092 6.00e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 96754649 199137 1103645599712 6.00e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 106425565 199137 BGI_rs199137 6.00e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 108777163 199137 CEU.trio.12.15.2008_3154488_chr15_43187904 6.00e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 114103183 199137 NA19240_2008_12_16_2830362_chr15_43187904 6.00e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 118207915 199137 NA18507_000028080_NCBI36.1_chr15_43187904 6.00e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 134264840 199137 ENSSNP6567323 6.00e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 136913633 199137 ENSSNP1100330 6.00e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 156481317 199137 GMI_SNP_117117113 6.00e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 167920365 199137 NA07022_36_chr15_43187904 6.00e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 169304144 199137 NA19240_36_chr15_43187904 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 171025247 199137 NA20431_36_chr15_43187904 6.00e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 200783976 199137 BUSHMAN-chr15-43187903 6.00e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 207201605 199137 BCM_CMT_1011-2700367 6.00e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 254944609 199137 SNP28211_15_43187904 6.00e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 282236018 199137 GMI_AK_SNP_6556417 6.00e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 291828632 199137 SNP_1334990_chr15_43187904 6.00e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400612C>G;NG_009447.1:g.10748G>C;NM_014080.4:c.1399-192G>C 464140773 199137 20101123_snps_10308003_chr15_45400612 6.00e-03 2011.07.20 2011.07.20 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45400612_45400613insC;NG_009447.1:g.10747_10748insG;NM_014080.4:c.1399-193_1399-192insG 289254541 144393243 GMI_AK_INDEL_928012 2010.12.28 2011.12.29 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400612_45400613insC;NG_009447.1:g.10747_10748insG;NM_014080.4:c.1399-193_1399-192insG 327663618 144393243 JPTCHB_chr15_43187905_indel 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400612_45400613insC;NG_009447.1:g.10747_10748insG;NM_014080.4:c.1399-193_1399-192insG 498906763 144393243 20110316_indels_chr15_45400613_45400614 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45400803A>T;NG_009447.1:g.10557T>A;NM_014080.4:c.1398+184T>A 338746332 150929720 20100804_snps_10389873_chr15_45400803 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45401034C>T;NG_009447.1:g.10326G>A;NM_014080.4:c.1351G>A;NP_054799.4:p.Asp451Asn 338746333 139786814 20100804_snps_10389874_chr15_45401034 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401034C>T;NG_009447.1:g.10326G>A;NM_014080.4:c.1351G>A;NP_054799.4:p.Asp451Asn 342402623 139786814 ESP2500-chr15-45401034 3.20e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401034C>T;NG_009447.1:g.10326G>A;NM_014080.4:c.1351G>A;NP_054799.4:p.Asp451Asn 491082279 139786814 20110521_exome_590077_chr15_45401034 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45401034C>T;NG_009447.1:g.10326G>A;NM_014080.4:c.1351G>A;NP_054799.4:p.Asp451Asn 491494037 139786814 nonsyn_210263_chr_15_45401034 3.20e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401053G>A;NG_009447.1:g.10307C>T;NM_014080.4:c.1332C>T;NP_054799.4:p.Ala444= 342402624 141678471 ESP2500-chr15-45401053 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 HGSV 50506 NC_000015.9:g.45401082C>T;NG_009447.1:g.10278G>A;NM_014080.4:c.1303G>A;NP_054799.4:p.Asp435Asn 85055072 57305586 Cor19129_SNV_20070510.chr15_43188374 2007.12.08 2007.12.08 2007.12.14 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45401083T>C;NG_009447.1:g.10277A>G;NM_014080.4:c.1302A>G;NP_054799.4:p.Arg434= 200783979 78412174 BUSHMAN-chr15-43188374 1.83e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401083T>C;NG_009447.1:g.10277A>G;NM_014080.4:c.1302A>G;NP_054799.4:p.Arg434= 226867410 78412174 pilot_1_YRI_8677093_chr15_43188375 1.83e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401083T>C;NG_009447.1:g.10277A>G;NM_014080.4:c.1302A>G;NP_054799.4:p.Arg434= 342402625 78412174 ESP2500-chr15-45401083 1.83e-02 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401083T>C;NG_009447.1:g.10277A>G;NM_014080.4:c.1302A>G;NP_054799.4:p.Arg434= 491082280 78412174 20110521_exome_590078_chr15_45401083 1.83e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 OMIM-CURATED-RECORDS 50506 NP_054799.4:p.ARG434TER NC_000015.9:g.45401085G>A;NG_009447.1:g.10275C>T;NM_014080.4:c.1300C>T;NP_054799.4:p.Arg434Ter 254226884 119472026 14077 germline pathogenic 2010.08.19 2010.08.19 2010.08.19 2012.09.29 137 EXOME_CHIP 50506 NC_000015.9:g.45401117G>A;NG_009447.1:g.10243C>T;NM_014080.4:c.1268C>T;NP_054799.4:p.Thr423Ile 491494038 201197899 nonsyn_210264_chr_15_45401117 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45401117G>A;NG_009447.1:g.10243C>T;NM_014080.4:c.1268C>T;NP_054799.4:p.Thr423Ile 491700105 201197899 SNV-chr15-43188409 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401120C>T;NG_009447.1:g.10240G>A;NM_014080.4:c.1265G>A;NP_054799.4:p.Arg422His 489048708 201135069 20110521_exome_198074_chr15_45401120 1.40e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45401120C>T;NG_009447.1:g.10240G>A;NM_014080.4:c.1265G>A;NP_054799.4:p.Arg422His 491494039 201135069 nonsyn_210265_chr_15_45401120 1.40e-03 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401146G>A;NG_009447.1:g.10214C>T;NM_014080.4:c.1239C>T;NP_054799.4:p.Tyr413= 342402626 139464830 ESP2500-chr15-45401146 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45401303C>T;NG_009447.1:g.10057G>A;NM_014080.4:c.1235-153G>A 464140774 190144566 20101123_snps_10308004_chr15_45401303 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45401314A>G;NG_009447.1:g.10046T>C;NM_014080.4:c.1235-164T>C 464140775 182097901 20101123_snps_10308005_chr15_45401314 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45401387C>A;NG_009447.1:g.9973G>T;NM_014080.4:c.1235-237G>T 338746334 143494098 20100804_snps_10389875_chr15_45401387 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45401404T>C;NG_009447.1:g.9956A>G;NM_014080.4:c.1235-254A>G 464140776 186735138 20101123_snps_10308006_chr15_45401404 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45401462T>A;NG_009447.1:g.9898A>T;NM_014080.4:c.1234+260A>T 464140777 190801252 20101123_snps_10308007_chr15_45401462 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45401469C>A;NG_009447.1:g.9891G>T;NM_014080.4:c.1234+253G>T 464140778 183400473 20101123_snps_10308008_chr15_45401469 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BL 50506 NC_000015.9:g.45401551_45401552insA;NG_009447.1:g.9808_9809insT;NM_014080.4:c.1234+170_1234+171insT 256163685 146500925 SNP1788_15_43188843 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 DEVINE_LAB 50506 NC_000015.9:g.45401552delA;NG_009447.1:g.9808delT;NM_014080.4:c.1234+170delT 15243422 11362140 INDEL_GP34_WGS_375819 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45401552delA;NG_009447.1:g.9808delT;NM_014080.4:c.1234+170delT 80400525 11362140 Cor18507_DIV_20070510.chr15_43188857-43188859_1 2007.11.25 2007.11.25 2004.02.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45401552A>C;NG_009447.1:g.9808T>G;NM_014080.4:c.1234+170T>G 134264843 79920944 ENSSNP10984766 2009.05.13 2009.05.15 2009.12.01 2011.09.09 137 GMI 50506 NC_000015.9:g.45401552delA;NG_009447.1:g.9808delT;NM_014080.4:c.1234+170delT 289254542 11362140 GMI_AK_INDEL_928013 2010.12.28 2011.12.29 2004.02.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401631G>A;NG_009447.1:g.9729C>T;NM_014080.4:c.1234+91C>T 464140779 188619129 20101123_snps_10308009_chr15_45401631 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 2864343 1961660 TSC0006603 1.52e-01 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 5167826 1961660 TSC0433248 1.52e-01 2002.09.19 2006.10.25 2001.01.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 5930139 1961660 NT_010194.12_374432 1.52e-01 2003.01.11 2003.10.10 2001.01.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 43746517 1961660 hCV26909510 1.52e-01 2005.07.18 2005.07.18 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 65748937 1961660 Human1-rs1961660 1.52e-01 2006.10.10 2006.10.10 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 75009828 1961660 ILMN_Human_1M_rs1961660 1.52e-01 2007.08.29 2007.08.29 2001.01.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 85500557 1961660 Cor18517_SNV_20070510.chr15_43188928 1.52e-01 2007.12.09 2007.12.09 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 114103191 1961660 NA19240_2008_12_16_2830363_chr15_43188928 1.52e-01 2008.12.18 2008.12.18 2001.01.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 118207918 1961660 NA18507_000028081_NCBI36.1_chr15_43188928 1.52e-01 2009.01.21 2009.01.21 2001.01.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 119410154 1961660 KHS1572401 1.52e-01 2009.02.04 2009.02.04 2001.01.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 156481324 1961660 GMI_SNP_71235098 1.52e-01 2009.06.25 2009.06.25 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 169304161 1961660 NA19240_36_chr15_43188928 1.52e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 171025257 1961660 NA20431_36_chr15_43188928 1.52e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 173014306 1961660 Human1M-Duov3_B_rs1961660-128_B_F_1513967747 1.52e-01 2009.10.02 2009.10.02 2001.01.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 200783983 1961660 BUSHMAN-chr15-43188927 1.52e-01 2010.03.07 2010.03.07 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 226867412 1961660 pilot_1_YRI_8677095_chr15_43188928 1.52e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 236760779 1961660 pilot_1_CEU_6365408_chr15_43188928 1.52e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 243150657 1961660 pilot_1_CHB+JPT_5035734_chr15_43188928 1.52e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 254944616 1961660 SNP28212_15_43188928 1.52e-01 2010.08.19 2010.08.19 2001.01.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45401636C>T;NG_009447.1:g.9724G>A;NM_014080.4:c.1234+86G>A 282236019 1961660 GMI_AK_SNP_6556418 1.52e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401722C>T;NG_009447.1:g.9638G>A;NM_014080.4:c.1234G>A;NP_054799.4:p.Asp412Asn 489048710 199933270 20110521_exome_198075_chr15_45401722 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45401722C>T;NG_009447.1:g.9638G>A;NM_014080.4:c.1234G>A;NP_054799.4:p.Asp412Asn 491494040 199933270 splice_210266_chr_15_45401722 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401759C>T;NG_009447.1:g.9601G>A;NM_014080.4:c.1197G>A;NP_054799.4:p.Ser399= 338746335 146745678 20100804_snps_10389876_chr15_45401759 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401759C>T;NG_009447.1:g.9601G>A;NM_014080.4:c.1197G>A;NP_054799.4:p.Ser399= 342402627 146745678 ESP2500-chr15-45401759 2.70e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401759C>T;NG_009447.1:g.9601G>A;NM_014080.4:c.1197G>A;NP_054799.4:p.Ser399= 491082281 146745678 20110521_exome_590079_chr15_45401759 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45401760G>A;NG_009447.1:g.9600C>T;NM_014080.4:c.1196C>T;NP_054799.4:p.Ser399Leu 342402628 147435713 ESP2500-chr15-45401760 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 50506 NC_000015.9:g.45401767G>T;NG_009447.1:g.9593C>A;NM_014080.4:c.1189C>A;NP_054799.4:p.Gln397Lys 491700106 200989933 SNV-chr15-43189059 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401888C>A;NG_009447.1:g.9472G>T;NM_014080.4:c.1132-64G>T 464140780 192995261 20101123_snps_10308010_chr15_45401888 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 50506 NC_000015.9:g.45401908A>T;NG_009447.1:g.9452T>A;NM_014080.4:c.1132-84T>A 282236020 185286002 GMI_AK_SNP_6556419 5.50e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45401908A>T;NG_009447.1:g.9452T>A;NM_014080.4:c.1132-84T>A 464140781 185286002 20101123_snps_10308011_chr15_45401908 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 YUSUKE 50506 NC_000015.9:g.45402060delC;NG_009447.1:g.9300delG;NM_014080.4:c.1131+28delG 4475465 3214521 IMS-JST076043 2002.06.06 2003.10.10 2002.07.03 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45402076C>G;NG_009447.1:g.9284G>C;NM_014080.4:c.1131+12G>C 489048712 201798367 20110521_exome_198076_chr15_45402076 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 OMIM-CURATED-RECORDS 50506 NP_054799.4:p.ARG376TRP NC_000015.9:g.45402093G>A;NG_009447.1:g.9267C>T;NM_014080.4:c.1126C>T;NP_054799.4:p.Arg376Trp 254226902 119472029 14080 germline pathogenic 2010.08.19 2010.08.19 2010.08.19 2012.09.29 137 NHLBI-ESP 50506 NC_000015.9:g.45402093G>A;NG_009447.1:g.9267C>T;NM_014080.4:c.1126C>T;NP_054799.4:p.Arg376Trp 342402629 119472029 ESP2500-chr15-45402093 germline pathogenic 2011.03.26 2011.03.26 2010.08.19 2012.09.29 137 1000GENOMES 50506 NC_000015.9:g.45402124T>C;NG_009447.1:g.9236A>G;NM_014080.4:c.1095A>G;NP_054799.4:p.Gln365= 226867413 76985372 pilot_1_YRI_8677096_chr15_43189416 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402124T>C;NG_009447.1:g.9236A>G;NM_014080.4:c.1095A>G;NP_054799.4:p.Gln365= 342402630 76985372 ESP2500-chr15-45402124 1.40e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402124T>C;NG_009447.1:g.9236A>G;NM_014080.4:c.1095A>G;NP_054799.4:p.Gln365= 482016000 76985372 HumanOmni2.5-4v1_D_kgp19871956-0_T_R_1833470843 1.40e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402124T>C;NG_009447.1:g.9236A>G;NM_014080.4:c.1095A>G;NP_054799.4:p.Gln365= 483395474 76985372 HumanOmni2.5-4v1_B_SNP15-43189416-0_T_R_1640320265 1.40e-03 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402124T>C;NG_009447.1:g.9236A>G;NM_014080.4:c.1095A>G;NP_054799.4:p.Gln365= 491082282 76985372 20110521_exome_590080_chr15_45402124 1.40e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402130G>A;NG_009447.1:g.9230C>T;NM_014080.4:c.1089C>T;NP_054799.4:p.Ser363= 342402631 147191554 ESP2500-chr15-45402130 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 YSAMUELS 50506 NC_000015.8:g.43189433C>T NC_000015.9:g.45402141C>T;NG_009447.1:g.9219G>A;NM_014080.4:c.1078G>A;NP_054799.4:p.Gly360Ser 344940904 144894209 NC_000015.8:g.43189433C>T germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 BUSHMAN 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 200783988 111737855 BUSHMAN-chr15-43189610 7.10e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 226867414 111737855 pilot_1_YRI_8677097_chr15_43189611 7.10e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 236760780 111737855 pilot_1_CEU_6365409_chr15_43189611 7.10e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 243150658 111737855 pilot_1_CHB+JPT_5035735_chr15_43189611 7.10e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BL 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 254944621 111737855 SNP28213_15_43189611 7.10e-02 2010.08.19 2010.08.19 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 479539858 111737855 HumanOmni2.5-4v1_D_kgp1104021-0_B_F_1806827073 7.10e-02 2012.01.30 2012.01.30 2010.07.04 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402319T>C;NG_009447.1:g.9041A>G;NM_014080.4:c.1041-141A>G 483395476 111737855 HumanOmni2.5-4v1_B_SNP15-43189611-0_B_F_1624191902 7.10e-02 2012.02.02 2012.02.02 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402326C>T;NG_009447.1:g.9034G>A;NM_014080.4:c.1041-148G>A 338746336 140352238 20100804_snps_10389877_chr15_45402326 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45402347G>C;NG_009447.1:g.9013C>G;NM_014080.4:c.1041-169C>G 200783992 112599029 BUSHMAN-chr15-43189638 1.40e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402347G>C;NG_009447.1:g.9013C>G;NM_014080.4:c.1041-169C>G 464140782 112599029 20101123_snps_10308012_chr15_45402347 1.40e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402406A>G;NG_009447.1:g.8954T>C;NM_014080.4:c.1040+220T>C 464140783 191828816 20101123_snps_10308013_chr15_45402406 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45402429T>G;NG_009447.1:g.8931A>C;NM_014080.4:c.1040+197A>C 108777166 72724247 CEU.trio.12.15.2008_3154489_chr15_43189721 1.10e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402429T>G;NG_009447.1:g.8931A>C;NM_014080.4:c.1040+197A>C 338746337 72724247 20100804_snps_10389878_chr15_45402429 1.10e-02 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45402479A>G;NG_009447.1:g.8881T>C;NM_014080.4:c.1040+147T>C 200783996 113324656 BUSHMAN-chr15-43189770 1.42e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402479A>G;NG_009447.1:g.8881T>C;NM_014080.4:c.1040+147T>C 338746338 113324656 20100804_snps_10389879_chr15_45402479 1.42e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45402506A>G;NG_009447.1:g.8854T>C;NM_014080.4:c.1040+120T>C 200783999 111708176 BUSHMAN-chr15-43189797 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45402679C>A;NG_009447.1:g.8681G>T;NM_014080.4:c.987G>T;NP_054799.4:p.Val329= 489048714 201416182 20110521_exome_198077_chr15_45402679 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402701G>A;NG_009447.1:g.8659C>T;NM_014080.4:c.965C>T;NP_054799.4:p.Pro322Leu 342402632 148754510 ESP2500-chr15-45402701 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402701G>A;NG_009447.1:g.8659C>T;NM_014080.4:c.965C>T;NP_054799.4:p.Pro322Leu 489048716 148754510 20110521_exome_198078_chr15_45402701 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45402701G>A;NG_009447.1:g.8659C>T;NM_014080.4:c.965C>T;NP_054799.4:p.Pro322Leu 491494041 148754510 nonsyn_210267_chr_15_45402701 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402716C>T;NG_009447.1:g.8644G>A;NM_014080.4:c.950G>A;NP_054799.4:p.Arg317His 342402633 142354994 ESP2500-chr15-45402716 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45402716C>T;NG_009447.1:g.8644G>A;NM_014080.4:c.950G>A;NP_054799.4:p.Arg317His 491494042 142354994 nonsyn_210268_chr_15_45402716 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402816C>T;NG_009447.1:g.8544G>A;NM_014080.4:c.943+32G>A 489048717 201507902 20110521_exome_198079_chr15_45402816 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402830C>G;NG_009447.1:g.8530G>C;NM_014080.4:c.943+18G>C 226867415 79467028 pilot_1_YRI_8677098_chr15_43190122 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402830C>G;NG_009447.1:g.8530G>C;NM_014080.4:c.943+18G>C 491082283 79467028 20110521_exome_590081_chr15_45402830 7.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402880C>T;NG_009447.1:g.8480G>A;NM_014080.4:c.911G>A;NP_054799.4:p.Ser304Asn 489048719 200479757 20110521_exome_198080_chr15_45402880 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45402880C>T;NG_009447.1:g.8480G>A;NM_014080.4:c.911G>A;NP_054799.4:p.Ser304Asn 491494043 200479757 nonsyn_210269_chr_15_45402880 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402883G>C;NG_009447.1:g.8477C>G;NM_014080.4:c.908C>G;NP_054799.4:p.Pro303Arg 342402634 151261408 ESP2500-chr15-45402883 5.00e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402883G>C;NG_009447.1:g.8477C>G;NM_014080.4:c.908C>G;NP_054799.4:p.Pro303Arg 464140784 151261408 20101123_snps_10308014_chr15_45402883 5.00e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402883G>C;NG_009447.1:g.8477C>G;NM_014080.4:c.908C>G;NP_054799.4:p.Pro303Arg 491082284 151261408 20110521_exome_590082_chr15_45402883 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45402883G>C;NG_009447.1:g.8477C>G;NM_014080.4:c.908C>G;NP_054799.4:p.Pro303Arg 491494044 151261408 nonsyn_210270_chr_15_45402883 5.00e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45402883G>C;NG_009447.1:g.8477C>G;NM_014080.4:c.908C>G;NP_054799.4:p.Pro303Arg 491700107 151261408 SNV-chr15-43190175 5.00e-03 2012.03.06 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45402893C>T;NG_009447.1:g.8467G>A;NM_014080.4:c.898G>A;NP_054799.4:p.Glu300Lys 342402635 140455650 ESP2500-chr15-45402893 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45402903G>A;NG_009447.1:g.8457C>T;NM_014080.4:c.888C>T;NP_054799.4:p.Ile296= 342402636 144183694 ESP2500-chr15-45402903 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 KWOK 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 351297 269859 OVLP-000621-114837 2.58e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 913757 269859 OVLP-000804-210659 2.58e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 2032129 269859 OVLP-000925-696863 2.58e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 3617607 269859 AC012255.4_154110 2.58e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 15447294 269859 NT_010194.16_16193497 2.58e-01 2003.11.14 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 17531148 269859 CSHL-HuCC-200402.chr15.NT_010194.16_16193497 2.58e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 21230578 269859 WGSA-200403-chr15.chr15.NT_010194.16_16193497 2.58e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 40535569 269859 hCV2409610 2.58e-01 2005.07.17 2005.07.17 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 75278386 269859 ILMN_Human_1M_rs269859 2.58e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 77753411 269859 Cor12156_SNV_20070510.chr15_43190232 2.58e-01 2007.10.14 2007.10.14 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 86064762 269859 Cor18956_SNV_20070510.chr15_43190232 2.58e-01 2007.12.11 2007.12.11 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 90140382 269859 JWB-0849093 2.58e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 96754650 269859 1103645599713 2.58e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 108777170 269859 CEU.trio.12.15.2008_3154490_chr15_43190232 2.58e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 123103381 269859 HumanCNV370v1_C_rs269859 2.58e-01 2009.04.15 2009.04.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 134264846 269859 ENSSNP6452725 2.58e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 136913632 269859 ENSSNP1100331 2.58e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 154228579 269859 Human610_Quadv1_B_rs269859-128_B_F_1514251089 2.58e-01 2009.06.20 2009.06.20 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 156481331 269859 GMI_SNP_35417572 2.58e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 160570737 269859 HumanOmni1-Quad_v1-0_B_rs269859-128_B_F_1514251089 2.58e-01 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 171025268 269859 NA20431_36_chr15_43190232 2.58e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 171346208 269859 HumanCNV370-Quadv3_C_rs269859-128_B_F_1514251089 2.58e-01 2009.10.01 2009.10.03 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 173433267 269859 Human1M-Duov3_B_rs269859-128_B_F_1514251089 2.58e-01 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 200784004 269859 BUSHMAN-chr15-43190231 2.58e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 207295586 269859 BCM_CMT_1011-2731367 2.58e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 211602070 269859 YRI.trio.3.2010_1261494_chr15_43190232 2.58e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 226867416 269859 pilot_1_YRI_8677099_chr15_43190232 2.58e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 236760781 269859 pilot_1_CEU_6365410_chr15_43190232 2.58e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 243150659 269859 pilot_1_CHB+JPT_5035736_chr15_43190232 2.58e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 254944628 269859 SNP28214_15_43190232 2.58e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 282236021 269859 GMI_AK_SNP_6556420 2.58e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 291828633 269859 SNP_1334991_chr15_43190232 2.58e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 481497096 269859 HumanOmni1-Quad_v1-0_C_rs269859-131_B_F_1863059157 2.58e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402940A>G;NG_009447.1:g.8420T>C;NM_014080.4:c.883-32T>C 491082285 269859 20110521_exome_590083_chr15_45402940 2.58e-01 2012.02.22 2012.02.22 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 4171057 2959897 AC091117.2_159794 3.70e-03 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 75304818 2959897 ILMN_Human_1M_rs2959897 3.70e-03 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 119451365 2959897 KHS1613612 3.70e-03 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 123204905 2959897 HumanCNV370v1_C_rs2959897 3.70e-03 2009.04.15 2009.04.15 2001.11.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 154248424 2959897 Human610_Quadv1_B_rs2959897-128_T_R_1514283710 3.70e-03 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 171497822 2959897 HumanCNV370-Quadv3_C_rs2959897-128_T_R_1514283710 3.70e-03 2009.10.01 2009.10.04 2001.11.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 173540991 2959897 Human1M-Duov3_B_rs2959897-128_T_R_1514283710 3.70e-03 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402951T>G;NG_009447.1:g.8409A>C;NM_014080.4:c.883-43A>C 489048721 2959897 20110521_exome_198081_chr15_45402951 3.70e-03 2012.02.13 2012.02.13 2001.11.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402953T>A;NG_009447.1:g.8407A>T;NM_014080.4:c.883-45A>T 489048723 201947197 20110521_exome_198082_chr15_45402953 3.70e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402957G>A;NG_009447.1:g.8403C>T;NM_014080.4:c.883-49C>T 338746339 148954300 20100804_snps_10389880_chr15_45402957 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402957G>A;NG_009447.1:g.8403C>T;NM_014080.4:c.883-49C>T 491082286 148954300 20110521_exome_590084_chr15_45402957 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402965G>T;NG_009447.1:g.8395C>A;NM_014080.4:c.883-57C>A 226867417 114240217 pilot_1_YRI_8677100_chr15_43190257 2.56e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 GMI 50506 NC_000015.9:g.45402990G>C;NG_009447.1:g.8370C>G;NM_014080.4:c.883-82C>G 156481338 80231352 GMI_SNP_35414758 1.10e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45402990G>C;NG_009447.1:g.8370C>G;NM_014080.4:c.883-82C>G 243150660 80231352 pilot_1_CHB+JPT_5035737_chr15_43190282 1.10e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45402990G>C;NG_009447.1:g.8370C>G;NM_014080.4:c.883-82C>G 282236022 80231352 GMI_AK_SNP_6556421 1.10e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45403000_45403001insG;NG_009447.1:g.8359_8360insC;NM_014080.4:c.883-93_883-92insC 193381210 113956806 BUSHMAN-chr15-43190293-43190293 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45403008G>C;NG_009447.1:g.8352C>G;NM_014080.4:c.883-100C>G 464140785 188425409 20101123_snps_10308015_chr15_45403008 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45403009A>C;NG_009447.1:g.8351T>G;NM_014080.4:c.883-101T>G 464140786 181905124 20101123_snps_10308016_chr15_45403009 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 50506 NC_000015.9:g.45403017A>G;NG_009447.1:g.8343T>C;NM_014080.4:c.883-109T>C 118207920 74011359 NA18507_000028082_NCBI36.1_chr15_43190309 1.37e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403017A>G;NG_009447.1:g.8343T>C;NM_014080.4:c.883-109T>C 338746340 74011359 20100804_snps_10389881_chr15_45403017 1.37e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45403037G>A;NG_009447.1:g.8323C>T;NM_014080.4:c.883-129C>T 169304176 113800136 NA19240_36_chr15_43190329 1.10e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403037G>A;NG_009447.1:g.8323C>T;NM_014080.4:c.883-129C>T 211602072 113800136 YRI.trio.3.2010_1261495_chr15_43190329 1.10e-02 2010.03.30 2010.03.30 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403037G>A;NG_009447.1:g.8323C>T;NM_014080.4:c.883-129C>T 338746341 113800136 20100804_snps_10389882_chr15_45403037 1.10e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 3379796 2412956 TSC1661019 1.60e-02 2001.09.20 2003.10.10 2001.09.28 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 21236584 2412956 WGSA-200403-chr15.chr15.NT_010194.16_16193653 1.60e-02 2004.03.19 2004.03.19 2001.09.28 2012.11.28 137 ABI 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 40634937 2412956 hCV26909514 1.60e-02 2005.07.17 2005.07.17 2001.09.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 86003008 2412956 Cor18956_SNV_20070510.chr15_43190388 1.60e-02 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 90140384 2412956 JWB-0849094 1.60e-02 2008.02.29 2008.02.29 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 96754651 2412956 1103645599714 1.60e-02 2008.03.27 2008.03.27 2001.09.28 2012.11.28 137 BGI 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 106425566 2412956 BGI_rs2412956 1.60e-02 2008.09.15 2009.06.18 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 132397059 2412956 ENSSNP1100332 1.60e-02 2009.05.11 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 134264849 2412956 ENSSNP10984768 1.60e-02 2009.05.13 2009.05.15 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 156481345 2412956 GMI_SNP_70907417 1.60e-02 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 207340259 2412956 BCM_CMT_1011-2746386 1.60e-02 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 BL 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 254944632 2412956 SNP28215_15_43190388 1.60e-02 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 282236023 2412956 GMI_AK_SNP_6556422 1.60e-02 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 291828634 2412956 SNP_1334992_chr15_43190388 1.60e-02 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403096T>G;NG_009447.1:g.8264A>C;NM_014080.4:c.883-188A>C 464140787 2412956 20101123_snps_10308017_chr15_45403096 1.60e-02 2011.07.20 2011.07.20 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45403098_45403099insG;NG_009447.1:g.8261_8262insC;NM_014080.4:c.883-191_883-190insC 96787610 71421856 1103645599706 2008.03.27 2008.03.27 2009.02.13 2011.09.09 137 ABI 50506 NC_000015.9:g.45403180A>G;NG_009447.1:g.8180T>C;NM_014080.4:c.882+129T>C 40555991 34771665 hCV8803216 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403512C>A;NG_009447.1:g.7848G>T;NM_014080.4:c.716-37G>T 489048725 200998617 20110521_exome_198083_chr15_45403512 4.67e-02 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ABI 50506 NC_000015.9:g.45403664G>A;NG_009447.1:g.7696C>T;NM_014080.4:c.633C>T;NP_054799.4:p.Phe211= 40599362 35157799 hCV11768875 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45403664G>A;NG_009447.1:g.7696C>T;NM_014080.4:c.633C>T;NP_054799.4:p.Phe211= 96807667 35157799 1103645599708 2008.03.27 2008.03.27 2006.03.14 2011.09.09 137 SC_JCM 50506 NC_000015.9:g.45403699C>T;NG_009447.1:g.7661G>A;NM_014080.4:c.598G>A;NP_054799.4:p.Gly200Arg 3459593 2467827 AC087790.2_137333 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403699C>T;NG_009447.1:g.7661G>A;NM_014080.4:c.598G>A;NP_054799.4:p.Gly200Arg 4166535 2467827 AC087790.2_161625 2001.10.15 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403700C>G;NC_000015.9:g.45403700delCinsCC;NC_000015.9:g.45403700delCinsTG;NG_009447.1:g.7660G>C;NG_009447.1:g.7660delGinsCA;NG_009447.1:g.7660delGinsGG;NM_014080.4:c.597G>C;NM_014080.4:c.597delGinsCA;NM_014080.4:c.597delGinsGG;NP_054799.4:p.Ser199=;NP_054799.4:p.Ser199delinsSerArgfs;NP_054799.4:p.Ser199delinsSerGlyfs 3459594 2467828 AC087790.2_137334 2001.09.24 2003.10.10 2001.09.28 2012.12.17 137 SC_JCM 50506 NC_000015.9:g.45403700C>G;NC_000015.9:g.45403700delCinsCC;NC_000015.9:g.45403700delCinsTG;NG_009447.1:g.7660G>C;NG_009447.1:g.7660delGinsCA;NG_009447.1:g.7660delGinsGG;NM_014080.4:c.597G>C;NM_014080.4:c.597delGinsCA;NM_014080.4:c.597delGinsGG;NP_054799.4:p.Ser199=;NP_054799.4:p.Ser199delinsSerArgfs;NP_054799.4:p.Ser199delinsSerGlyfs 4166534 2467828 AC087790.2_161624 2001.10.15 2003.10.10 2001.09.28 2012.12.17 137 SC_JCM 50506 NC_000015.9:g.45403730G>A;NG_009447.1:g.7630C>T;NM_014080.4:c.567C>T;NP_054799.4:p.His189= 3459595 2467829 AC087790.2_137364 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403730G>A;NG_009447.1:g.7630C>T;NM_014080.4:c.567C>T;NP_054799.4:p.His189= 4115887 2467829 AC012255.4_154900 2001.10.15 2003.10.10 2001.09.28 2011.07.08 137 ABI 50506 NC_000015.9:g.45403730G>A;NG_009447.1:g.7630C>T;NM_014080.4:c.567C>T;NP_054799.4:p.His189= 40579097 2467829 hCV26909517 2005.07.17 2005.07.17 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403739G>A;NG_009447.1:g.7621C>T;NM_014080.4:c.558C>T;NP_054799.4:p.Gly186= 3459596 2467830 AC087790.2_137373 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403739G>A;NG_009447.1:g.7621C>T;NM_014080.4:c.558C>T;NP_054799.4:p.Gly186= 4115888 2467830 AC012255.4_154909 2001.10.15 2003.10.10 2001.09.28 2011.07.08 137 ABI 50506 NC_000015.9:g.45403739G>A;NG_009447.1:g.7621C>T;NM_014080.4:c.558C>T;NP_054799.4:p.Gly186= 40533367 2467830 hCV26909518 2005.07.17 2005.07.17 2001.09.28 2011.07.08 137 EXOME_CHIP 50506 NC_000015.9:g.45403743T>C;NG_009447.1:g.7617A>G;NM_014080.4:c.554A>G;NP_054799.4:p.Tyr185Cys 491494045 201788208 nonsyn_210271_chr_15_45403743 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 50506 NC_000015.9:g.45403764C>A;NG_009447.1:g.7596G>T;NM_014080.4:c.533G>T;NP_054799.4:p.Trp178Leu 464140788 190660925 20101123_snps_10308018_chr15_45403764 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 50506 NC_000015.9:g.45403817G>T;NG_009447.1:g.7543C>A;NM_014080.4:c.514-34C>A 3617610 2576085 AC012255.4_154987 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403818A>G;NG_009447.1:g.7542T>C;NM_014080.4:c.514-35T>C 3617611 2576086 AC012255.4_154988 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403829G>A;NG_009447.1:g.7531C>T;NM_014080.4:c.514-46C>T 3617612 2576087 AC012255.4_154999 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 50506 NC_000015.9:g.45403832C>T;NG_009447.1:g.7528G>A;NM_014080.4:c.514-49G>A 3617613 2576088 AC012255.4_155002 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45403917C>T;NG_009447.1:g.7443G>A;NM_014080.4:c.513+49G>A 464140789 181503132 20101123_snps_10308019_chr15_45403917 1.51e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45403967A>G;NG_009447.1:g.7393T>C;NM_014080.4:c.512T>C;NP_054799.4:p.Leu171Pro 489048727 199957468 20110521_exome_198084_chr15_45403967 1.28e-02 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45403967A>G;NG_009447.1:g.7393T>C;NM_014080.4:c.512T>C;NP_054799.4:p.Leu171Pro 491494046 199957468 splice_210272_chr_15_45403967 1.28e-02 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403974G>A;NG_009447.1:g.7386C>T;NM_014080.4:c.505C>T;NP_054799.4:p.Arg169Trp 489048729 201590426 20110521_exome_198085_chr15_45403974 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45403978G>A;NG_009447.1:g.7382C>T;NM_014080.4:c.501C>T;NP_054799.4:p.Asn167= 159730607 76681174 DUOX2-43191270 1.05e-02 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45403978G>A;NG_009447.1:g.7382C>T;NM_014080.4:c.501C>T;NP_054799.4:p.Asn167= 489048731 76681174 20110521_exome_198086_chr15_45403978 1.05e-02 2012.02.13 2012.02.13 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404042C>T;NG_009447.1:g.7318G>A;NM_014080.4:c.437G>A;NP_054799.4:p.Gly146Glu 338746344 139328759 20100804_snps_10389885_chr15_45404042 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 10771835 7166994 chr15.NT_010194.15_16193661 2003.06.30 2003.10.10 2003.07.11 2011.09.09 137 ILLUMINA 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 75320156 7166994 ILMN_Human_1M_rs7166994 2007.08.29 2007.08.29 2003.07.11 2011.09.09 137 KRIBB_YJKIM 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 119544420 7166994 KHS1706667 2009.02.05 2009.02.05 2003.07.11 2011.09.09 137 ILLUMINA 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 123449981 7166994 HumanCNV370v1_C_rs7166994 2009.04.15 2009.04.15 2003.07.11 2011.09.09 137 ILLUMINA 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 154409406 7166994 Human610_Quadv1_B_rs7166994-128_T_R_1514289055 2009.06.20 2009.06.20 2003.07.11 2011.09.09 137 ILLUMINA 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 172255015 7166994 HumanCNV370-Quadv3_C_rs7166994-128_T_R_1514289055 2009.10.02 2009.10.04 2003.07.11 2011.09.09 137 ILLUMINA 50506 NC_000015.9:g.45404050G>T;NG_009447.1:g.7310C>A;NM_014080.4:c.429C>A;NP_054799.4:p.Asp143Glu 174271066 7166994 Human1M-Duov3_B_rs7166994-128_T_R_1514289055 2009.10.04 2009.10.04 2003.07.11 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45404065G>A;NG_009447.1:g.7295C>T;NM_014080.4:c.414C>T;NP_054799.4:p.Pro138= 342402637 146644834 ESP2500-chr15-45404065 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 TSC-CSHL 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 2916167 2001616 TSC0132815 2.19e-01 2001.01.02 2006.10.25 2001.01.12 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 15436439 2001616 NT_010194.16_16194623 2.19e-01 2003.11.14 2003.11.22 2001.01.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 21253430 2001616 WGSA-200403-chr15.chr15.NT_010194.16_16194623 2.19e-01 2004.03.19 2004.03.19 2001.01.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 40551884 2001616 hCV26909523 2.19e-01 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 77771990 2001616 Cor12156_SNV_20070510.chr15_43191358 2.19e-01 2007.10.14 2007.10.14 2001.01.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 96754652 2001616 1103645599715 2.19e-01 2008.03.27 2008.03.27 2001.01.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 106425567 2001616 BGI_rs2001616 2.19e-01 2008.09.15 2009.06.18 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 108777174 2001616 CEU.trio.12.15.2008_3154491_chr15_43191358 2.19e-01 2008.12.16 2008.12.16 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 114103209 2001616 NA19240_2008_12_16_2830365_chr15_43191358 2.19e-01 2008.12.18 2008.12.18 2001.01.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 118207922 2001616 NA18507_000028083_NCBI36.1_chr15_43191358 2.19e-01 2009.01.21 2009.01.21 2001.01.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 134264853 2001616 ENSSNP10984769 2.19e-01 2009.05.13 2009.05.15 2001.01.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 139607713 2001616 ENSSNP3496072 2.19e-01 2009.05.19 2009.10.16 2001.01.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 156481352 2001616 GMI_SNP_117000785 2.19e-01 2009.06.25 2009.06.25 2001.01.12 2012.11.28 137 SEATTLESEQ 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 159730608 2001616 DUOX2-43191358 2.19e-01 2009.07.10 2009.07.10 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 160487157 2001616 HumanOmni1-Quad_v1-0_B_rs2001616-128_B_R_1562629586 2.19e-01 2009.08.06 2009.10.02 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 167920380 2001616 NA07022_36_chr15_43191358 2.19e-01 2009.09.30 2009.09.30 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 169304193 2001616 NA19240_36_chr15_43191358 2.19e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 171025277 2001616 NA20431_36_chr15_43191358 2.19e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 200784008 2001616 BUSHMAN-chr15-43191357 2.19e-01 2010.03.07 2010.03.07 2001.01.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 207371531 2001616 BCM_CMT_1011-2756727 2.19e-01 2010.03.18 2010.03.18 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 226867419 2001616 pilot_1_YRI_8677102_chr15_43191358 2.19e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 236760783 2001616 pilot_1_CEU_6365412_chr15_43191358 2.19e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 243150661 2001616 pilot_1_CHB+JPT_5035738_chr15_43191358 2.19e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 254944636 2001616 SNP28216_15_43191358 2.19e-01 2010.08.19 2010.08.19 2001.01.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 282236024 2001616 GMI_AK_SNP_6556423 2.19e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 291828635 2001616 SNP_1334993_chr15_43191358 2.19e-01 2011.01.21 2011.01.21 2001.01.12 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 342402638 2001616 ESP2500-chr15-45404066 2.19e-01 2011.03.26 2011.03.26 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 481164082 2001616 HumanOmni1-Quad_v1-0_C_rs2001616-131_B_R_1863419753 2.19e-01 2012.01.31 2012.01.31 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 483395478 2001616 HumanOmni2.5-4v1_B_SNP15-43191358-0_B_R_1613122486 2.19e-01 2012.02.02 2012.02.02 2001.01.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 483873640 2001616 HumanOmni2.5-4v1_D_kgp7245907-0_B_R_1806757463 2.19e-01 2012.02.03 2012.02.03 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 491082287 2001616 20110521_exome_590085_chr15_45404066 2.19e-01 2012.02.22 2012.02.22 2001.01.12 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 491494047 2001616 nonsyn_210273_chr_15_45404066 2.19e-01 2012.03.05 2012.03.05 2001.01.12 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404066G>A;NG_009447.1:g.7294C>T;NM_014080.4:c.413C>T;NP_054799.4:p.Pro138Leu 491700108 2001616 SNV-chr15-43191358 2.19e-01 2012.03.06 2012.03.13 2001.01.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404084C>A;NG_009447.1:g.7276G>T;NM_014080.4:c.395G>T;NP_054799.4:p.Arg132Leu 489048732 202200643 20110521_exome_198087_chr15_45404084 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404094G>A;NG_009447.1:g.7266C>T;NM_014080.4:c.385C>T;NP_054799.4:p.Leu129Phe 489048734 201139674 20110521_exome_198088_chr15_45404094 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45404110A>G;NG_009447.1:g.7250T>C;NM_014080.4:c.369T>C;NP_054799.4:p.Gly123= 342402639 145131480 ESP2500-chr15-45404110 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45404115G>T;NG_009447.1:g.7245C>A;NM_014080.4:c.364C>A;NP_054799.4:p.Pro122Thr 489048736 200265605 20110521_exome_198089_chr15_45404115 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45404115G>T;NG_009447.1:g.7245C>A;NM_014080.4:c.364C>A;NP_054799.4:p.Pro122Thr 491494048 200265605 nonsyn_210274_chr_15_45404115 9.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45404124C>G;NG_009447.1:g.7236G>C;NM_014080.4:c.355G>C;NP_054799.4:p.Val119Leu 342402640 138970496 ESP2500-chr15-45404124 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45404146A>G;NG_009447.1:g.7214T>C;NM_014080.4:c.333T>C;NP_054799.4:p.His111= 342402641 148969578 ESP2500-chr15-45404146 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404158G>A;NG_009447.1:g.7202C>T;NM_014080.4:c.326-5C>T 491700109 200837051 SNV-chr15-43191450 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404185C>T;NG_009447.1:g.7175G>A;NM_014080.4:c.326-32G>A 464140790 187033571 20101123_snps_10308020_chr15_45404185 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404185C>T;NG_009447.1:g.7175G>A;NM_014080.4:c.326-32G>A 491082288 187033571 20110521_exome_590086_chr15_45404185 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404255C>T;NG_009447.1:g.7105G>A;NM_014080.4:c.326-102G>A 464140791 188440654 20101123_snps_10308021_chr15_45404255 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 50506 NC_000015.9:g.45404374A>G;NG_009447.1:g.6986T>C;NM_014080.4:c.326-221T>C 156481359 77968139 GMI_SNP_502631601 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45404374A>G;NG_009447.1:g.6986T>C;NM_014080.4:c.326-221T>C 282236025 77968139 GMI_AK_SNP_6556424 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45404376T>C;NG_009447.1:g.6984A>G;NM_014080.4:c.326-223A>G 156481366 76406203 GMI_SNP_502576606 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45404376T>C;NG_009447.1:g.6984A>G;NM_014080.4:c.326-223A>G 282236026 76406203 GMI_AK_SNP_6556425 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404419C>T;NG_009447.1:g.6941G>A;NM_014080.4:c.326-266G>A 464140792 181294672 20101123_snps_10308022_chr15_45404419 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45404509G>A;NG_009447.1:g.6851C>T;NM_014080.4:c.325+243C>T 236760784 117653922 pilot_1_CEU_6365413_chr15_43191801 4.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 BL 50506 NC_000015.9:g.45404509G>A;NG_009447.1:g.6851C>T;NM_014080.4:c.325+243C>T 254944644 117653922 SNP28217_15_43191801 4.60e-03 2010.08.19 2010.08.19 2010.07.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404514T>C;NG_009447.1:g.6846A>G;NM_014080.4:c.325+238A>G 211602074 114865056 YRI.trio.3.2010_1261496_chr15_43191806 5.00e-03 2010.03.30 2010.03.30 2010.07.14 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404514T>C;NG_009447.1:g.6846A>G;NM_014080.4:c.325+238A>G 226867420 114865056 pilot_1_YRI_8677103_chr15_43191806 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404514T>C;NG_009447.1:g.6846A>G;NM_014080.4:c.325+238A>G 482027862 114865056 HumanOmni2.5-4v1_D_kgp19915681-0_T_R_1833610280 5.00e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404514T>C;NG_009447.1:g.6846A>G;NM_014080.4:c.325+238A>G 483395480 114865056 HumanOmni2.5-4v1_B_SNP15-43191806-0_T_R_1646865198 5.00e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 ABI 50506 NC_000015.9:g.45404633delG;NG_009447.1:g.6727delC;NM_014080.4:c.325+119delC 40625538 34006311 hCV33987885 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 TSC-CSHL 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 103275 751151 TSC0136019 5.54e-02 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 171025288 751151 NA20431_36_chr15_43191985 5.54e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 200784011 751151 BUSHMAN-chr15-43191984 5.54e-02 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 226867421 751151 pilot_1_YRI_8677104_chr15_43191985 5.54e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 236760785 751151 pilot_1_CEU_6365414_chr15_43191985 5.54e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 479525248 751151 HumanOmni2.5-4v1_D_kgp11000878-0_B_F_1806709655 5.54e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 483395482 751151 HumanOmni2.5-4v1_B_SNP15-43191985-0_B_F_1620351662 5.54e-02 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404693C>T;NG_009447.1:g.6667G>A;NM_014080.4:c.325+59G>A 491700110 751151 SNV-chr15-43191985 5.54e-02 2012.03.06 2012.03.13 2000.10.05 2012.11.28 137 GMI 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 156481373 76180151 GMI_SNP_117433919 3.30e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 226867422 76180151 pilot_1_YRI_8677105_chr15_43191991 3.30e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 236760786 76180151 pilot_1_CEU_6365415_chr15_43191991 3.30e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 254944649 76180151 SNP28218_15_43191991 3.30e-02 2010.08.19 2010.08.19 2009.12.01 2012.11.28 137 GMI 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 282236027 76180151 GMI_AK_SNP_6556426 3.30e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404699C>T;NG_009447.1:g.6661G>A;NM_014080.4:c.325+53G>A 491700111 76180151 SNV-chr15-43191991 3.30e-02 2012.03.06 2012.03.13 2009.12.01 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404718G>C;NG_009447.1:g.6642C>G;NM_014080.4:c.325+34C>G 491700112 201270846 SNV-chr15-43192010 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404737C>T;NG_009447.1:g.6623G>A;NM_014080.4:c.325+15G>A 489048738 199536527 20110521_exome_198090_chr15_45404737 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404739C>G;NG_009447.1:g.6621G>C;NM_014080.4:c.325+13G>C 489048740 201514147 20110521_exome_198091_chr15_45404739 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45404761C>A;NG_009447.1:g.6599G>T;NM_014080.4:c.316G>T;NP_054799.4:p.Val106Phe 342402642 143091240 ESP2500-chr15-45404761 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 50506 NC_000015.9:g.45404770C>A;NG_009447.1:g.6590G>T;NM_014080.4:c.307G>T;NP_054799.4:p.Val103Leu 342402643 148211186 ESP2500-chr15-45404770 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 ABI 50506 NC_000015.9:g.45404774_45404775insC;NG_009447.1:g.6585_6586insG;NM_014080.4:c.302_303insG;NP_054799.4:p.Arg101delinsArgHisfs 40627695 34409301 hCV33987886 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45404774G>T;NG_009447.1:g.6586C>A;NM_014080.4:c.303C>A;NP_054799.4:p.Arg101= 243150663 117041393 pilot_1_CHB+JPT_5035740_chr15_43192066 1.10e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404774G>T;NG_009447.1:g.6586C>A;NM_014080.4:c.303C>A;NP_054799.4:p.Arg101= 482044180 117041393 HumanOmni2.5-4v1_D_kgp19974650-0_B_F_1833831203 1.10e-02 2012.02.01 2012.02.01 2010.07.15 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404774G>T;NG_009447.1:g.6586C>A;NM_014080.4:c.303C>A;NP_054799.4:p.Arg101= 483395484 117041393 HumanOmni2.5-4v1_B_SNP15-43192066-0_B_F_1624211890 1.10e-02 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404774G>T;NG_009447.1:g.6586C>A;NM_014080.4:c.303C>A;NP_054799.4:p.Arg101= 491082289 117041393 20110521_exome_590087_chr15_45404774 1.10e-02 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404836G>A;NG_009447.1:g.6524C>T;NM_014080.4:c.241C>T;NP_054799.4:p.Pro81Ser 489048742 200595348 20110521_exome_198092_chr15_45404836 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404863C>A;NG_009447.1:g.6497G>T;NM_014080.4:c.214G>T;NP_054799.4:p.Ala72Ser 489048744 199733766 20110521_exome_198093_chr15_45404863 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404873A>C;NG_009447.1:g.6487T>G;NM_014080.4:c.204T>G;NP_054799.4:p.Gly68= 464140793 185014205 20101123_snps_10308023_chr15_45404873 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404873A>C;NG_009447.1:g.6487T>G;NM_014080.4:c.204T>G;NP_054799.4:p.Gly68= 491082290 185014205 20110521_exome_590088_chr15_45404873 5.50e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45404885A>G;NG_009447.1:g.6475T>C;NM_014080.4:c.192T>C;NP_054799.4:p.Asn64= 200784015 112584857 BUSHMAN-chr15-43192176 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 CLINSEQ_SNP 50506 NC_000015.9:g.45404953C>T;NG_009447.1:g.6407G>A;NM_014080.4:c.161-37G>A 491700113 199686842 SNV-chr15-43192245 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 KWOK 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 241728 182090 OVLP-000621-114822 8.70e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 1059158 182090 OVLP-000804-210645 8.70e-03 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 2070429 182090 OVLP-000925-696849 8.70e-03 2000.10.07 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 3585402 182090 AC009700.4_8715 8.70e-03 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 5459736 182090 TSC0164892 8.70e-03 2002.09.21 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 10785525 182090 chr15.NT_010194.15_16194590 8.70e-03 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_SNP 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 15985068 182090 NT_010194.16_16195536 8.70e-03 2003.11.18 2003.11.22 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 21276596 182090 WGSA-200403-chr15.chr15.NT_010194.16_16195536 8.70e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ABI 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 43694201 182090 hCV2409612 8.70e-03 2005.07.18 2005.07.18 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 77573525 182090 Cor12156_SNV_20070510.chr15_43192271 8.70e-03 2007.10.13 2007.10.13 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 78424910 182090 Cor12878_SNV_20070510.chr15_43192271 8.70e-03 2007.10.19 2007.10.19 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 79042279 182090 Cor18507_SNV_20070510.chr15_43192271 8.70e-03 2007.10.21 2007.10.21 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 84069675 182090 Cor19240_SNV_20070510.chr15_43192271 8.70e-03 2007.12.06 2007.12.06 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 90140386 182090 JWB-0849095 8.70e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 96754653 182090 1103645599716 8.70e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 106425568 182090 BGI_rs182090 8.70e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 108777178 182090 CEU.trio.12.15.2008_3154492_chr15_43192271 8.70e-03 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 114103218 182090 NA19240_2008_12_16_2830366_chr15_43192271 8.70e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 118207924 182090 NA18507_000028084_NCBI36.1_chr15_43192271 8.70e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 134264855 182090 ENSSNP10984770 8.70e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 136913631 182090 ENSSNP1100333 8.70e-03 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 156481380 182090 GMI_SNP_35665036 8.70e-03 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 160464508 182090 HumanOmni1-Quad_v1-0_B_rs182090-128_T_F_1577288276 8.70e-03 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 167920392 182090 NA07022_36_chr15_43192271 8.70e-03 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 169304208 182090 NA19240_36_chr15_43192271 8.70e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 171025299 182090 NA20431_36_chr15_43192271 8.70e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 200784019 182090 BUSHMAN-chr15-43192270 8.70e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 207342020 182090 BCM_CMT_1011-2746969 8.70e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 226867423 182090 pilot_1_YRI_8677106_chr15_43192271 8.70e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 236760787 182090 pilot_1_CEU_6365416_chr15_43192271 8.70e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 254944654 182090 SNP28219_15_43192271 8.70e-03 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 282236028 182090 GMI_AK_SNP_6556427 8.70e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 291828636 182090 SNP_1334994_chr15_43192271 8.70e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45404979T>G;NG_009447.1:g.6381A>C;NM_014080.4:c.161-63A>C 481073788 182090 HumanOmni1-Quad_v1-0_C_rs182090-131_T_F_1863277824 8.70e-03 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45404997C>T;NG_009447.1:g.6363G>A;NM_014080.4:c.161-81G>A 200784023 113700172 BUSHMAN-chr15-43192288 1.42e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45404997C>T;NG_009447.1:g.6363G>A;NM_014080.4:c.161-81G>A 226867424 113700172 pilot_1_YRI_8677107_chr15_43192289 1.42e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ABI 50506 NC_000015.9:g.45405035_45405036insT;NG_009447.1:g.6324_6325insA;NM_014080.4:c.161-120_161-119insA 40532971 34297348 hCV33987887 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 BUSHMAN 50506 NC_000015.9:g.45405146G>T;NG_009447.1:g.6214C>A;NM_014080.4:c.160+39C>A 200784026 74367551 BUSHMAN-chr15-43192437 2.79e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405146G>T;NG_009447.1:g.6214C>A;NM_014080.4:c.160+39C>A 226867425 74367551 pilot_1_YRI_8677108_chr15_43192438 2.79e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405146G>T;NG_009447.1:g.6214C>A;NM_014080.4:c.160+39C>A 482036887 74367551 HumanOmni2.5-4v1_D_kgp19947767-0_B_F_1833728627 2.79e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405146G>T;NG_009447.1:g.6214C>A;NM_014080.4:c.160+39C>A 483395486 74367551 HumanOmni2.5-4v1_B_SNP15-43192438-0_B_F_1643776369 2.79e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405146G>T;NG_009447.1:g.6214C>A;NM_014080.4:c.160+39C>A 491082291 74367551 20110521_exome_590089_chr15_45405146 2.79e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405187A>T;NG_009447.1:g.6173T>A;NM_014080.4:c.158T>A;NP_054799.4:p.Val53Asp 338746345 143247010 20100804_snps_10389886_chr15_45405187 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 50506 NC_000015.9:g.45405211A>G;NG_009447.1:g.6149T>C;NM_014080.4:c.134T>C;NP_054799.4:p.Leu45Pro 342402644 141169239 ESP2500-chr15-45405211 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45405211A>G;NG_009447.1:g.6149T>C;NM_014080.4:c.134T>C;NP_054799.4:p.Leu45Pro 491494049 141169239 nonsyn_210275_chr_15_45405211 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45405235C>A;NG_009447.1:g.6125G>T;NM_014080.4:c.110G>T;NP_054799.4:p.Arg37Leu 491700114 200434528 SNV-chr15-43192527 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405323C>A;NG_009447.1:g.6037G>T;NM_014080.4:c.75-53G>T 226867426 77078382 pilot_1_YRI_8677109_chr15_43192615 2.56e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45405385C>T;NG_009447.1:g.5975G>A;NM_014080.4:c.75-115G>A 338746346 150874992 20100804_snps_10389887_chr15_45405385 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45405414C>T;NG_009447.1:g.5946G>A;NM_014080.4:c.74+122G>A 226867427 75354193 pilot_1_YRI_8677110_chr15_43192706 2.52e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 KWOK 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 351294 269856 OVLP-000621-114821 1.23e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 913755 269856 OVLP-000804-210644 1.23e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 1322785 269856 TSC0164893 1.23e-01 2000.09.06 2004.10.21 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 2032127 269856 OVLP-000925-696848 1.23e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 3617614 269856 AC012255.4_156633 1.23e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 16676505 269856 CSHL-HuAA-200402.chr15.NT_010194.16_16196020 1.23e-01 2004.02.18 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 21290477 269856 WGSA-200403-chr15.chr15.NT_010194.16_16196020 1.23e-01 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 75139841 269856 ILMN_Human_1M_rs269856 1.23e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 77380970 269856 Cor12156_SNV_20070510.chr15_43192755 1.23e-01 2007.10.10 2007.10.12 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 81390243 269856 Cor18507_SNV_20070510.chr15_43192755 1.23e-01 2007.11.29 2007.11.29 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 90140388 269856 JWB-0849096 1.23e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 96754654 269856 1103645599717 1.23e-01 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 106425569 269856 BGI_rs269856 1.23e-01 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 108777182 269856 CEU.trio.12.15.2008_3154493_chr15_43192755 1.23e-01 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 114103226 269856 NA19240_2008_12_16_2830367_chr15_43192755 1.23e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 118207926 269856 NA18507_000028085_NCBI36.1_chr15_43192755 1.23e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 119347301 269856 KHS1509548 1.23e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 134264859 269856 ENSSNP6462129 1.23e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 136913629 269856 ENSSNP1100334 1.23e-01 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 156481387 269856 GMI_SNP_35420753 1.23e-01 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 167920409 269856 NA07022_36_chr15_43192755 1.23e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 169304224 269856 NA19240_36_chr15_43192755 1.23e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 171025307 269856 NA20431_36_chr15_43192755 1.23e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 173433260 269856 Human1M-Duov3_B_rs269856-128_B_F_1514098510 1.23e-01 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 200784031 269856 BUSHMAN-chr15-43192754 1.23e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 207201781 269856 BCM_CMT_1011-2700427 1.23e-01 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 226867428 269856 pilot_1_YRI_8677111_chr15_43192755 1.23e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 236760788 269856 pilot_1_CEU_6365417_chr15_43192755 1.23e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 254944662 269856 SNP28220_15_43192755 1.23e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 282236029 269856 GMI_AK_SNP_6556428 1.23e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45405463G>T;NG_009447.1:g.5897C>A;NM_014080.4:c.74+73C>A 291828637 269856 SNP_1334995_chr15_43192755 1.23e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405525G>T;NG_009447.1:g.5835C>A;NM_014080.4:c.74+11C>A 338746347 138005153 20100804_snps_10389888_chr15_45405525 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405525G>T;NG_009447.1:g.5835C>A;NM_014080.4:c.74+11C>A 491082292 138005153 20110521_exome_590090_chr15_45405525 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45405568A>G;NG_009447.1:g.5792T>C;NM_014080.4:c.42T>C;NP_054799.4:p.Ala14= 342402645 147346870 ESP2500-chr15-45405568 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45405628G>T;NG_009447.1:g.5732C>A;NM_014080.4:c.-14-5C>A 489048746 201463794 20110521_exome_198094_chr15_45405628 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ABI 50506 NC_000015.9:g.45405731G>A;NG_009447.1:g.5629C>T;NM_014080.4:c.-14-108C>T 40607138 34500972 hCV33987888 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45405757G>A;NG_009447.1:g.5603C>T;NM_014080.4:c.-14-134C>T 464140794 189872179 20101123_snps_10308024_chr15_45405757 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 50506 NC_000015.9:g.45405806C>T;NG_009447.1:g.5554G>A;NM_014080.4:c.-14-183G>A 282236030 201376578 GMI_AK_SNP_6556429 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 KWOK 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 351293 269855 OVLP-000621-114820 2.20e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 913754 269855 OVLP-000804-210643 2.20e-02 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 2032126 269855 OVLP-000925-696847 2.20e-02 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 3039434 269855 TSC1122047 2.20e-02 2001.06.07 2006.10.25 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 3585400 269855 AC009700.4_7707 2.20e-02 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 6589006 269855 NT_010194.13_378787 2.20e-02 2003.02.13 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 12337942 269855 chr15.NT_010194.15_16195598 2.20e-02 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 21293480 269855 WGSA-200403-chr15.chr15.NT_010194.16_16196544 2.20e-02 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 75160690 269855 ILMN_Human_1M_rs269855 2.20e-02 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 81318834 269855 Cor18507_SNV_20070510.chr15_43193279 2.20e-02 2007.11.29 2007.11.29 2000.07.12 2012.11.28 137 HGSV 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 84798527 269855 Cor19129_SNV_20070510.chr15_43193279 2.20e-02 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 90140390 269855 JWB-0849097 2.20e-02 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 96754655 269855 1103645599718 2.20e-02 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 106425570 269855 BGI_rs269855 2.20e-02 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 108777188 269855 CEU.trio.12.15.2008_3154494_chr15_43193279 2.20e-02 2008.12.16 2008.12.16 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 114103230 269855 NA19240_2008_12_16_2830368_chr15_43193279 2.20e-02 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 118207927 269855 NA18507_000028086_NCBI36.1_chr15_43193279 2.20e-02 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 119347300 269855 KHS1509547 2.20e-02 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 134264861 269855 ENSSNP10984772 2.20e-02 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 136913628 269855 ENSSNP1100335 2.20e-02 2009.05.15 2009.10.15 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 156481394 269855 GMI_SNP_71085314 2.20e-02 2009.06.25 2009.06.25 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 160570734 269855 HumanOmni1-Quad_v1-0_B_rs269855-128_B_F_1514137469 2.20e-02 2009.08.06 2009.10.03 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 167920416 269855 NA07022_36_chr15_43193279 2.20e-02 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 169304241 269855 NA19240_36_chr15_43193279 2.20e-02 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 171025319 269855 NA20431_36_chr15_43193279 2.20e-02 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 173433255 269855 Human1M-Duov3_B_rs269855-128_B_F_1514137469 2.20e-02 2009.10.03 2009.10.03 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 200784034 269855 BUSHMAN-chr15-43193278 2.20e-02 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 207309432 269855 BCM_CMT_1011-2736032 2.20e-02 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 226867429 269855 pilot_1_YRI_8677112_chr15_43193279 2.20e-02 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 236760789 269855 pilot_1_CEU_6365418_chr15_43193279 2.20e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 243150664 269855 pilot_1_CHB+JPT_5035741_chr15_43193279 2.20e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 254944668 269855 SNP28221_15_43193279 2.20e-02 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 282236031 269855 GMI_AK_SNP_6556430 2.20e-02 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 291828638 269855 SNP_1334996_chr15_43193279 2.20e-02 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 480638336 269855 HumanOmni2.5-4v1_B_rs269855-128_B_F_1772570438 2.20e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 480653580 269855 HumanOmniExpress-12v1_C_rs269855-131_B_F_1857292702 2.20e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 481497084 269855 HumanOmni1-Quad_v1-0_C_rs269855-131_B_F_1865549905 2.20e-02 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45405987G>A;NG_009447.1:g.5373C>T;NM_014080.4:c.-15+184C>T 485114248 269855 HumanOmni2.5-4v1_D_rs269855-131_B_F_1857292702 2.20e-02 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45405993T>C;NG_009447.1:g.5367A>G;NM_014080.4:c.-15+178A>G 200784038 112836547 BUSHMAN-chr15-43193284 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45406198G>C;NG_009447.1:g.5162C>G;NM_014080.4:c.-42C>G 200784043 112353868 BUSHMAN-chr15-43193489 2.79e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406198G>C;NG_009447.1:g.5162C>G;NM_014080.4:c.-42C>G 226867430 112353868 pilot_1_YRI_8677113_chr15_43193490 2.79e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406271G>A;NG_009447.1:g.5089C>T;NM_014080.4:c.-115C>T 464140795 184033696 20101123_snps_10308025_chr15_45406271 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45406390T>C;NG_009447.1:g.4970A>G;NM_014080.4:c.-234A>G 200784046 113699001 BUSHMAN-chr15-43193681 1.47e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406390T>C;NG_009447.1:g.4970A>G;NM_014080.4:c.-234A>G 226867431 113699001 pilot_1_YRI_8677114_chr15_43193682 1.47e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 3617615 2576089 AC012255.4_157597 2.11e-02 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 12308169 2576089 chr15.NT_010194.15_16196038 2.11e-02 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 16677568 2576089 CSHL-HuAA-200402.chr15.NT_010194.16_16196984 2.11e-02 2004.02.18 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 21294958 2576089 WGSA-200403-chr15.chr15.NT_010194.16_16196984 2.11e-02 2004.03.19 2004.03.19 2001.09.28 2012.11.28 137 ABI 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 43741308 2576089 hCV16253258 2.11e-02 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 75131960 2576089 ILMN_Human_1M_rs2576089 2.11e-02 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 81082253 2576089 Cor18507_SNV_20070510.chr15_43193719 2.11e-02 2007.11.27 2007.11.27 2001.09.28 2012.11.28 137 HGSV 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 84100556 2576089 Cor19129_SNV_20070510.chr15_43193719 2.11e-02 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 90140392 2576089 JWB-0849098 2.11e-02 2008.02.29 2008.02.29 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 96754656 2576089 1103645599719 2.11e-02 2008.03.27 2008.03.27 2001.09.28 2012.11.28 137 BGI 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 106425571 2576089 BGI_rs2576089 2.11e-02 2008.09.15 2009.06.18 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 108777192 2576089 CEU.trio.12.15.2008_3154495_chr15_43193719 2.11e-02 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 114103239 2576089 NA19240_2008_12_16_2830369_chr15_43193719 2.11e-02 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 118207930 2576089 NA18507_000028087_NCBI36.1_chr15_43193719 2.11e-02 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 KRIBB_YJKIM 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 119439442 2576089 KHS1601689 2.11e-02 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 134264864 2576089 ENSSNP10984773 2.11e-02 2009.05.13 2009.05.15 2001.09.28 2012.11.28 137 ENSEMBL 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 136913627 2576089 ENSSNP1100336 2.11e-02 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 156481401 2576089 GMI_SNP_132327706 2.11e-02 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 167920428 2576089 NA07022_36_chr15_43193719 2.11e-02 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 169304256 2576089 NA19240_36_chr15_43193719 2.11e-02 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 171025329 2576089 NA20431_36_chr15_43193719 2.11e-02 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 173395206 2576089 Human1M-Duov3_B_rs2576089-128_B_F_1514097988 2.11e-02 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 200784051 2576089 BUSHMAN-chr15-43193718 2.11e-02 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 207295279 2576089 BCM_CMT_1011-2731260 2.11e-02 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 226867432 2576089 pilot_1_YRI_8677115_chr15_43193719 2.11e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 236760790 2576089 pilot_1_CEU_6365419_chr15_43193719 2.11e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 243150665 2576089 pilot_1_CHB+JPT_5035742_chr15_43193719 2.11e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 254944673 2576089 SNP28222_15_43193719 2.11e-02 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 282236032 2576089 GMI_AK_SNP_6556431 2.11e-02 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 50506 NC_000015.9:g.45406427C>T;NG_009447.1:g.4933G>A;NM_014080.4:c.-271G>A 291828639 2576089 SNP_1334997_chr15_43193719 2.11e-02 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406573T>C;NG_009447.1:g.4787A>G;NM_014080.4:c.-417A>G 464140796 186991966 20101123_snps_10308026_chr15_45406573 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45406620G>A;NG_009447.1:g.4740C>T;NM_014080.4:c.-464C>T 464140797 192319169 20101123_snps_10308027_chr15_45406620 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45406698G>A;NG_009447.1:g.4662C>T;NM_014080.4:c.-542C>T 464140798 183292375 20101123_snps_10308028_chr15_45406698 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45406699C>A;NG_009447.1:g.4661G>T;NM_014080.4:c.-543G>T 464140799 187585687 20101123_snps_10308029_chr15_45406699 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 247878 187290 OVLP-000621-114819 5.36e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 1063750 187290 OVLP-000804-210642 5.36e-02 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 2072479 187290 OVLP-000925-696846 5.36e-02 2000.10.07 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 2403345 187290 TSC0448312 5.36e-02 2000.10.20 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 3617616 187290 AC012255.4_157888 5.36e-02 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 236760791 187290 pilot_1_CEU_6365420_chr15_43194010 5.36e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 483135216 187290 HumanOmni2.5-4v1_D_kgp3242518-0_B_F_1807067589 5.36e-02 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45406718C>T;NG_009447.1:g.4642G>A;NM_014080.4:c.-562G>A 483395488 187290 HumanOmni2.5-4v1_B_SNP15-43194010-0_B_F_1620371157 5.36e-02 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406758C>G;NG_009447.1:g.4602G>C;NM_014080.4:c.-602G>C 489048748 201324818 20110521_exome_198095_chr15_45406758 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406790G>C;NG_009447.1:g.4570C>G;NM_014080.4:c.-634C>G 489048750 200016858 20110521_exome_198096_chr15_45406790 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45406790G>C;NG_009447.1:g.4570C>G;NM_014080.4:c.-634C>G 491700115 200016858 SNV-chr15-43194082 5.00e-04 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 WI_SSAHASNP 50506 NC_000015.9:g.45406854C>T;NG_009447.1:g.4506G>A;NM_014080.4:c.-698G>A 6589007 4775766 NT_010194.13_379654 4.10e-03 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 APPLERA_GI 50506 NC_000015.9:g.45406854C>T;NG_009447.1:g.4506G>A;NM_014080.4:c.-698G>A 48405432 4775766 hCV25756546 4.10e-03 2005.11.30 2005.11.30 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406854C>T;NG_009447.1:g.4506G>A;NM_014080.4:c.-698G>A 338746349 4775766 20100804_snps_10389890_chr15_45406854 4.10e-03 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45406854C>T;NG_009447.1:g.4506G>A;NM_014080.4:c.-698G>A 342402646 4775766 ESP2500-chr15-45406854 4.10e-03 2011.03.26 2011.03.26 2003.02.20 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45406854C>T;NG_009447.1:g.4506G>A;NM_014080.4:c.-698G>A 491082293 4775766 20110521_exome_590091_chr15_45406854 4.10e-03 2012.02.22 2012.02.22 2003.02.20 2012.11.28 137 NHLBI-ESP 50506 NC_000015.9:g.45406938C>T;NG_009447.1:g.4422G>A;NM_014080.4:c.-782G>A 342402647 143720052 ESP2500-chr15-45406938 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45406951G>A;NG_009447.1:g.4409C>T;NM_014080.4:c.-795C>T 489048751 200862688 20110521_exome_198097_chr15_45406951 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45406962C>T;NG_009447.1:g.4398G>A;NM_014080.4:c.-806G>A 491700116 199773361 SNV-chr15-43194254 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407022G>A;NG_009447.1:g.4338C>T;NM_014080.4:c.-866C>T 338746350 139820694 20100804_snps_10389891_chr15_45407022 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 50506 NC_000015.9:g.45407044C>A;NG_009447.1:g.4316G>T;NM_014080.4:c.-888G>T 200784055 75156596 BUSHMAN-chr15-43194335 1.33e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407044C>A;NG_009447.1:g.4316G>T;NM_014080.4:c.-888G>T 226867433 75156596 pilot_1_YRI_8677116_chr15_43194336 1.33e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45407044C>A;NG_009447.1:g.4316G>T;NM_014080.4:c.-888G>T 482057173 75156596 HumanOmni2.5-4v1_D_kgp20024490-0_T_F_1834011873 1.33e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45407044C>A;NG_009447.1:g.4316G>T;NM_014080.4:c.-888G>T 483395490 75156596 HumanOmni2.5-4v1_B_SNP15-43194336-0_T_F_1643813082 1.33e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407094G>T;NG_009447.1:g.4266C>A;NM_014080.4:c.-938C>A 338746351 143133718 20100804_snps_10389892_chr15_45407094 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45407215C>A;NG_009447.1:g.4145G>T;NM_014080.4:c.-1059G>T 464140800 191696228 20101123_snps_10308030_chr15_45407215 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 50506 NC_000015.9:g.45407228C>A;NG_009447.1:g.4132G>T;NM_014080.4:c.-1072G>T 1322786 893101 TSC0164894 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 50506 NC_000015.9:g.45407228C>A;NG_009447.1:g.4132G>T;NM_014080.4:c.-1072G>T 3459599 893101 AC087790.2_141095 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407546T>G;NG_009447.1:g.3814A>C;NM_014080.4:c.-1390A>C 338746352 146281027 20100804_snps_10389893_chr15_45407546 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45407593G>A;NG_009447.1:g.3767C>T;NM_014080.4:c.-1437C>T 338746353 139402378 20100804_snps_10389894_chr15_45407593 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 50506 NC_000015.9:g.45407614C>T;NG_009447.1:g.3746G>A;NM_014080.4:c.-1458G>A 464140801 182822763 20101123_snps_10308031_chr15_45407614 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 50506 NC_000015.9:g.45407711C>T;NG_009447.1:g.3649G>A;NM_014080.4:c.-1555G>A 338746354 142642557 20100804_snps_10389895_chr15_45407711 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 50506 NC_000015.9:g.45407742A>G;NG_009447.1:g.3618T>C;NM_014080.4:c.-1586T>C 254944680 142623002 SNP28223_15_43195034 2010.08.19 2010.08.19 2011.05.09 2011.07.08 137 ILLUMINA 50506 NC_000015.9:g.45407774T>G;NG_009447.1:g.3586A>C;NM_014080.4:c.-1618A>C 161051036 75705118 HumanOmni1-Quad_v1-0_B_SNP15-43195066-0_T_R_1588139040 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45407774T>G;NG_009447.1:g.3586A>C;NM_014080.4:c.-1618A>C 479353543 75705118 HumanOmni1-Quad_v1-0_C_kgp22854458-0_T_R_1862728281 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407840T>G;NG_009447.1:g.3520A>C;NM_014080.4:c.-1684A>C 464140802 186792581 20101123_snps_10308032_chr15_45407840 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 50506 NC_000015.9:g.45407928G>A;NG_009447.1:g.3432C>T;NM_014080.4:c.-1772C>T 200784058 112803206 BUSHMAN-chr15-43195219 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45407935G>A;NG_009447.1:g.3425C>T;NM_014080.4:c.-1779C>T 226867434 79912197 pilot_1_YRI_8677117_chr15_43195227 5.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 SSAHASNP 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 35315299 28559568 TA-079.chr15_43195259 4.99e-02 2005.03.11 2005.05.24 2012.11.28 137 BUSHMAN 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 200784063 28559568 BUSHMAN-chr15-43195258 4.99e-02 2010.03.07 2010.03.07 2005.05.24 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 226867435 28559568 pilot_1_YRI_8677118_chr15_43195259 4.99e-02 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 243150666 28559568 pilot_1_CHB+JPT_5035743_chr15_43195259 4.99e-02 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 483395491 28559568 HumanOmni2.5-4v1_B_SNP15-43195259-0_T_R_1629943178 4.99e-02 2012.02.02 2012.02.02 2005.05.24 2012.11.28 137 ILLUMINA 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 483473093 28559568 HumanOmni2.5-4v1_D_kgp5072319-0_T_R_1807116570 4.99e-02 2012.02.02 2012.02.02 2005.05.24 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 491082294 28559568 20110521_exome_590092_chr15_45407967 4.99e-02 2012.02.22 2012.02.22 2005.05.24 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45407967C>T;NG_009447.1:g.3393G>A;NM_014080.4:c.-1811G>A 491700117 28559568 SNV-chr15-43195259 4.99e-02 2012.03.06 2012.03.13 2005.05.24 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407979G>T;NG_009447.1:g.3381C>A;NM_014080.4:c.-1823C>A 464140803 191250593 20101123_snps_10308033_chr15_45407979 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407979G>T;NG_009447.1:g.3381C>A;NM_014080.4:c.-1823C>A 491082295 191250593 20110521_exome_590093_chr15_45407979 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45407979G>T;NG_009447.1:g.3381C>A;NM_014080.4:c.-1823C>A 491700118 191250593 SNV-chr15-43195271 5.00e-04 2012.03.06 2012.03.13 2011.09.17 2012.11.28 137 BGI 50506 NC_000015.9:g.45407980G>A;NG_009447.1:g.3380C>T;NM_014080.4:c.-1824C>T 103234135 79659591 BGI_YHSNP0077131 5.50e-03 2008.06.05 2009.06.18 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407980G>A;NG_009447.1:g.3380C>T;NM_014080.4:c.-1824C>T 338746355 79659591 20100804_snps_10389896_chr15_45407980 5.50e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45407980G>A;NG_009447.1:g.3380C>T;NM_014080.4:c.-1824C>T 491082296 79659591 20110521_exome_590094_chr15_45407980 5.50e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 ABI 50506 NC_000015.9:g.45408014_45408015insG;NG_009447.1:g.3345_3346insC;NM_014080.4:c.-1859_-1858insC 40639086 35776498 hCV33987889 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 50506 NC_000015.9:g.45408027A>C;NG_009447.1:g.3333T>G;NM_014080.4:c.-1871T>G 489048753 200436733 20110521_exome_198098_chr15_45408027 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 50506 NC_000015.9:g.45408056T>C;NG_009447.1:g.3304A>G;NM_014080.4:c.-1900A>G 491494050 201506037 splice_210276_chr_15_45408056 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45408056T>C;NG_009447.1:g.3304A>G;NM_014080.4:c.-1900A>G 491700119 201506037 SNV-chr15-43195348 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 GOLDSTEINLAB 50506 NC_000015.9:g.45408056T>C;NG_009447.1:g.3304A>G;NM_014080.4:c.-1900A>G 507873199 201506037 15_43195348_C 2012.04.06 2012.04.06 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408087C>T;NG_009447.1:g.3273G>A;NM_014080.4:c.-1931G>A 464140804 184512789 20101123_snps_10308034_chr15_45408087 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408087C>T;NG_009447.1:g.3273G>A;NM_014080.4:c.-1931G>A 491082297 184512789 20110521_exome_590095_chr15_45408087 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408316C>G;NG_009447.1:g.3044G>C;NM_014080.4:c.-2160G>C 464140805 190250575 20101123_snps_10308035_chr15_45408316 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408316C>G;NG_009447.1:g.3044G>C;NM_014080.4:c.-2160G>C 491082298 190250575 20110521_exome_590096_chr15_45408316 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 50506 NC_000015.9:g.45408347C>T;NG_009447.1:g.3013G>A;NM_014080.4:c.-2191G>A 491700120 200536870 SNV-chr15-43195639 2012.03.06 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408356A>G;NG_009447.1:g.3004T>C;NM_014080.4:c.-2200T>C 226867436 78257203 pilot_1_YRI_8677119_chr15_43195648 1.80e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 50506 NC_000015.9:g.45408356A>G;NG_009447.1:g.3004T>C;NM_014080.4:c.-2200T>C 491082299 78257203 20110521_exome_590097_chr15_45408356 1.80e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 # Report date: 2013.2.9, Gene: DUOX2 (50506), ss count: 1999, rs count: 586.