# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 100526760 NC_000003.11:g.52015331C>G;NR_037192.1:n.508-2732C>G 330687218 144950618 20100804_snps_2330754_chr3_52015331 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52015332G>T;NR_037192.1:n.508-2731G>T 330687219 148968601 20100804_snps_2330755_chr3_52015332 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52015397G>A;NR_037192.1:n.508-2666G>A 231816400 114952947 pilot_1_CEU_1421029_chr3_51990437 1.40e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52015476G>A;NR_037192.1:n.508-2587G>A 166535929 112200329 NA20431_36_chr3_51990516 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 GMI 100526760 NC_000003.11:g.52015488G>T;NR_037192.1:n.508-2575G>T 277121472 200918580 GMI_AK_SNP_1441681 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 100526760 NC_000003.11:g.52015595C>T;NR_037192.1:n.508-2468C>T 330687220 143788494 20100804_snps_2330756_chr3_52015595 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52015598G>T;NR_037192.1:n.508-2465G>T 330687221 151113757 20100804_snps_2330757_chr3_52015598 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52015627C>G;NR_037192.1:n.508-2436C>G 13689559 9855188 chr3.NT_022517.16_51939102 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52015656C>T;NR_037192.1:n.508-2407C>T 13689575 9855203 chr3.NT_022517.16_51939131 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52015770G>A;NR_037192.1:n.508-2293G>A 330687222 142661076 20100804_snps_2330758_chr3_52015770 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 100526760 NC_000003.11:g.52015911delA;NC_000003.11:g.52015911delAinsAAAAAAAAAAAAA;NR_037192.1:n.508-2152delA;NR_037192.1:n.508-2152delAinsAAAAAAAAAAAAA 79946483 60272337 Cor18507_DIV_20070510.chr3_51990978-51990992_1 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 HGSV 100526760 NC_000003.11:g.52015911delA;NC_000003.11:g.52015911delAinsAAAAAAAAAAAAA;NR_037192.1:n.508-2152delA;NR_037192.1:n.508-2152delAinsAAAAAAAAAAAAA 83547911 60272337 Cor18517_DIV_20070510.chr3_51990978-51990992_1 2007.12.05 2007.12.05 2007.12.15 2011.07.08 137 HUMANGENOME_JCVI 100526760 NC_000003.11:g.52015911_52015912insAA;NR_037192.1:n.508-2152_508-2151insAA 95317357 71084166 1104685208458 2008.03.21 2008.12.02 2009.02.13 2011.07.08 137 LEE 100526760 NC_000003.11:g.52015922A>G;NR_037192.1:n.508-2141A>G 4395127 3178066 ge476300 2002.04.25 2003.10.10 2002.05.29 2011.07.08 137 GMI 100526760 NC_000003.11:g.52015944A>C;NR_037192.1:n.508-2119A>C 277121473 202229410 GMI_AK_SNP_1441682 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BCM-HGSC-SUB 100526760 NC_000003.11:g.52015945A>C;NR_037192.1:n.508-2118A>C 206218765 113311483 BCM_CMT_1011-750534 2010.03.17 2010.03.17 2010.07.04 2011.07.08 137 HUMANGENOME_JCVI 100526760 NC_000003.11:g.52015952_52015953insC;NR_037192.1:n.508-2111_508-2110insC 99166466 71633086 1103656095222 2008.04.03 2008.04.03 2009.02.13 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52016222C>G;NR_037192.1:n.508-1841C>G 456184174 183235741 20101123_snps_2351404_chr3_52016222 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52016273T>C;NR_037192.1:n.508-1790T>C 330687223 146324994 20100804_snps_2330759_chr3_52016273 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 414294 323890 OVLP-000621-280775 7.28e-02 2000.06.30 2003.10.10 2000.07.12 2011.10.06 137 SC_JCM 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 587947 323890 AC027396.3_130349 7.28e-02 2000.07.12 2003.10.10 2000.07.12 2011.10.06 137 KWOK 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 1036653 323890 OVLP-000804-487569 7.28e-02 2000.09.02 2003.10.10 2000.07.12 2011.10.06 137 KWOK 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 1829158 323890 OVLP-000925-375209 7.28e-02 2000.10.06 2003.10.10 2000.07.12 2011.10.06 137 WI_SSAHASNP 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 6456466 323890 NT_005986.13_608057 7.28e-02 2003.02.12 2003.10.10 2000.07.12 2011.10.06 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 10078925 323890 chr3.NT_005999.15_955278 7.28e-02 2003.06.28 2003.10.10 2000.07.12 2011.10.06 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 14173524 323890 chr3.NT_022517.16_51939816 7.28e-02 2003.11.07 2003.11.22 2000.07.12 2011.10.06 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 17730202 323890 CSHL-HuCC-200402.chr3.NT_022517.16_51939816 7.28e-02 2004.02.19 2004.03.04 2000.07.12 2011.10.06 137 SSAHASNP 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 21910881 323890 WGSA-200403-chr3.chr3.NT_022517.16_51939816 7.28e-02 2004.03.20 2004.03.20 2000.07.12 2011.10.06 137 ABI 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 41983999 323890 hCV2302110 7.28e-02 2005.07.17 2005.07.17 2000.07.12 2011.10.06 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 163404075 323890 NA19240_36_chr3_51991377 7.28e-02 2009.09.29 2009.09.29 2000.07.12 2011.10.06 137 BUSHMAN 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 202507193 323890 BUSHMAN-chr3-51991376 7.28e-02 2010.03.08 2010.03.08 2000.07.12 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 211181668 323890 YRI.trio.3.2010_279285_chr3_51991377 7.28e-02 2010.03.30 2010.03.30 2000.07.12 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52016337G>A;NR_037192.1:n.508-1726G>A 220131245 323890 pilot_1_YRI_1940928_chr3_51991377 7.28e-02 2010.04.22 2010.04.22 2000.07.12 2011.10.06 137 GMI 100526760 NC_000003.11:g.52016358C>A;NR_037192.1:n.508-1705C>A 155452061 74600325 GMI_SNP_66463454 1.47e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52016358C>A;NR_037192.1:n.508-1705C>A 239231232 74600325 pilot_1_CHB+JPT_1116309_chr3_51991398 1.47e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 100526760 NC_000003.11:g.52016358C>A;NR_037192.1:n.508-1705C>A 277121474 74600325 GMI_AK_SNP_1441683 1.47e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52016512C>T;NR_037192.1:n.508-1551C>T 330687224 139006421 20100804_snps_2330760_chr3_52016512 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52016547A>C;NR_037192.1:n.508-1516A>C 239231233 117006911 pilot_1_CHB+JPT_1116310_chr3_51991587 9.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52016550C>G;NR_037192.1:n.508-1513C>G 330687225 143009293 20100804_snps_2330761_chr3_52016550 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52016577G>C;NR_037192.1:n.508-1486G>C 456184175 188743990 20101123_snps_2351405_chr3_52016577 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52016755C>T;NR_037192.1:n.508-1308C>T 220131246 115142704 pilot_1_YRI_1940929_chr3_51991795 1.42e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52016836C>T;NR_037192.1:n.508-1227C>T 330687226 150416778 20100804_snps_2330762_chr3_52016836 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52016938G>A;NR_037192.1:n.508-1125G>A 456184176 193032587 20101123_snps_2351406_chr3_52016938 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52016960G>T;NR_037192.1:n.508-1103G>T 330687227 138244526 20100804_snps_2330763_chr3_52016960 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52017056C>T;NR_037192.1:n.508-1007C>T 456184177 185614246 20101123_snps_2351407_chr3_52017056 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52017057C>A;NR_037192.1:n.508-1006C>A 456184178 187995136 20101123_snps_2351408_chr3_52017057 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52017072G>A;NR_037192.1:n.508-991G>A 456184179 191407270 20101123_snps_2351409_chr3_52017072 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 100526760 NC_000003.11:g.52017154_52017155insC;NR_037192.1:n.508-909_508-908insC 41927487 35275952 hCV33913798 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BUSHMAN 100526760 NC_000003.11:g.52017308T>G;NR_037192.1:n.508-755T>G 202507198 111321512 BUSHMAN-chr3-51992347 3.25e-02 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52017308T>G;NR_037192.1:n.508-755T>G 456184180 111321512 20101123_snps_2351410_chr3_52017308 3.25e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52017572G>A;NR_037192.1:n.508-491G>A 220131247 115854290 pilot_1_YRI_1940930_chr3_51992612 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52017572G>A;NR_037192.1:n.508-491G>A 481586280 115854290 HumanOmni2.5-4v1_D_kgp18239696-0_T_F_1827091661 1.05e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52017572G>A;NR_037192.1:n.508-491G>A 484597271 115854290 HumanOmni2.5-4v1_B_SNP3-51992612-0_T_F_1636711146 1.05e-02 2012.02.04 2012.02.04 2010.07.14 2012.11.28 137 DEVINE_LAB 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 15330540 11442467 INDEL_GP34_WGS_478057 2003.11.13 2003.11.22 2004.02.28 2012.05.11 137 DEVINE_LAB 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 15346689 11442467 INDEL_GP34_WGS_497421 2003.11.14 2003.11.22 2004.02.28 2012.05.11 137 ABI 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 41859461 11442467 hCV33913799 2005.07.17 2005.07.17 2004.02.28 2012.05.11 137 DEVINE_LAB 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 50226394 11442467 INDEL_GP35_WGS_466823 2006.01.24 2006.01.24 2004.02.28 2012.05.11 137 DEVINE_LAB 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 99698885 11442467 INDEL_GP36_2007a_458949_0 2008.05.05 2008.05.05 2004.02.28 2012.05.11 137 BUSHMAN 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 193671053 11442467 BUSHMAN-chr3-51992753-51992754 2010.02.17 2010.02.17 2004.02.28 2012.05.11 137 PJP 100526760 NC_000003.11:g.52017714delT;NR_037192.1:n.508-349delT 295100084 11442467 DIP_537788_chr3_51992766 2011.01.23 2011.01.23 2004.02.28 2012.05.11 137 1000GENOMES 100526760 NC_000003.11:g.52017821C>T;NR_037192.1:n.508-242C>T 239231234 117401700 pilot_1_CHB+JPT_1116311_chr3_51992861 3.16e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 100526760 NC_000003.11:g.52017821C>T;NR_037192.1:n.508-242C>T 277121475 117401700 GMI_AK_SNP_1441684 3.16e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52017868G>A;NR_037192.1:n.508-195G>A 330687229 144076997 20100804_snps_2330765_chr3_52017868 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52017960C>A;NR_037192.1:n.508-103C>A 456184181 188500751 20101123_snps_2351411_chr3_52017960 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52018035G>T;NR_037192.1:n.508-28G>T 488758483 200156498 20110521_exome_55039_chr3_52018035 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018060C>G;NR_037192.1:n.508-3C>G 168895441 112760171 Human1M-Duov3_B_GA003333-0_B_F_1533420752 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52018122G>A;NR_037192.1:n.567G>A 342133012 148942228 ESP2500-chr3-52018122 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52018128C>T;NR_037192.1:n.573C>T 488758486 200012512 20110521_exome_55040_chr3_52018128 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 YSAMUELS 100526760 NC_000003.10:g.51993174G>C NC_000003.11:g.52018134G>C;NR_037192.1:n.579G>C 344938857 142265942 NC_000003.10:g.51993174G>C germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 GOLDSTEINLAB 100526760 ARRAY(0x5f5359e0) 507881783 200895743 3_51993178_G 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 APPLERA_GI 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 48401869 34017492 hCV25761253 1.80e-03 2005.11.30 2006.11.03 2006.03.13 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 160619478 34017492 HumanOmni1-Quad_v1-0_B_rs34017492-128_T_R_1562166729 1.80e-03 2009.08.06 2009.10.04 2006.03.13 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 342133016 34017492 ESP2500-chr3-52018149 1.80e-03 2011.03.26 2011.03.26 2006.03.13 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 456184182 34017492 20101123_snps_2351412_chr3_52018149 1.80e-03 2011.07.20 2011.07.20 2006.03.13 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 481692556 34017492 HumanOmni1-Quad_v1-0_C_rs34017492-131_T_R_1863338891 1.80e-03 2012.02.01 2012.02.01 2006.03.13 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 489880366 34017492 20110521_exome_373365_chr3_52018149 1.80e-03 2012.02.15 2012.02.21 2006.03.13 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52018149C>G;NR_037192.1:n.594C>G 491835292 34017492 SNV-chr3-51993189 1.80e-03 2012.03.07 2012.03.13 2006.03.13 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018161C>G;NR_037192.1:n.606C>G 330687231 141824939 20100804_snps_2330767_chr3_52018161 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52018161C>G;NR_037192.1:n.606C>G 342133017 141824939 ESP2500-chr3-52018161 3.20e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018161C>G;NR_037192.1:n.606C>G 489880368 141824939 20110521_exome_373366_chr3_52018161 3.20e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52018161C>G;NR_037192.1:n.606C>G 491835293 141824939 SNV-chr3-51993201 3.20e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52018184C>T;NR_037192.1:n.619+10C>T 166535938 112396905 NA20431_36_chr3_51993224 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52018184C>T;NR_037192.1:n.619+10C>T 491835294 112396905 SNV-chr3-51993224 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018206G>A;NR_037192.1:n.619+32G>A 488758488 202227748 20110521_exome_55041_chr3_52018206 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018219C>T;NR_037192.1:n.619+45C>T 456184183 185045735 20101123_snps_2351413_chr3_52018219 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018219C>T;NR_037192.1:n.619+45C>T 489880370 185045735 20110521_exome_373367_chr3_52018219 2.70e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 HGSV 100526760 NC_000003.11:g.52018221G>A;NR_037192.1:n.619+47G>A 84347090 56715917 Cor18555_SNV_20070510.chr3_51993261 2.66e-02 2007.12.07 2007.12.07 2007.12.14 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018221G>A;NR_037192.1:n.619+47G>A 239231235 56715917 pilot_1_CHB+JPT_1116312_chr3_51993261 2.66e-02 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 GMI 100526760 NC_000003.11:g.52018221G>A;NR_037192.1:n.619+47G>A 277121476 56715917 GMI_AK_SNP_1441685 2.66e-02 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018221G>A;NR_037192.1:n.619+47G>A 489880372 56715917 20110521_exome_373368_chr3_52018221 2.66e-02 2012.02.15 2012.02.21 2007.12.14 2012.11.28 137 ABI 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 41919938 34879976 hCV33913801 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 75009144 34879976 ILMN_Human_1M_rs34879976 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 119913371 34879976 KHS1914899 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 160624102 34879976 HumanOmni1-Quad_v1-0_B_rs34879976-128_B_R_1513974811 2009.08.06 2009.10.04 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 173594238 34879976 Human1M-Duov3_B_rs34879976-127_B_R_1513974811 2009.10.04 2009.10.04 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 480786339 34879976 HumanOmni2.5-4v1_B_rs34879976-128_B_R_1513974811 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 480802068 34879976 HumanOmniExpress-12v1_C_rs34879976-131_B_R_1857448711 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 481711146 34879976 HumanOmni1-Quad_v1-0_C_rs34879976-131_B_R_1857448711 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018232C>A;NR_037192.1:n.619+58C>A 485187936 34879976 HumanOmni2.5-4v1_D_rs34879976-131_B_R_1857448711 2012.02.04 2012.02.04 2006.03.14 2012.11.28 137 ABI 100526760 NC_000003.11:g.52018247_52018248insC;NR_037192.1:n.619+73_619+74insC 42071088 34903202 hCV33913802 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 KWOK 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 414295 323891 OVLP-000621-280777 2000.06.30 2003.10.10 2000.07.12 2013.01.17 137 SC_JCM 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 573575 323891 AC027396.3_132347 2000.07.12 2004.05.16 2000.07.12 2013.01.17 137 KWOK 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 1049979 323891 OVLP-000804-487567 2000.09.02 2003.10.10 2000.07.12 2013.01.17 137 KWOK 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 1847999 323891 OVLP-000925-375207 2000.10.06 2003.10.10 2000.07.12 2013.01.17 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 10096931 323891 chr3.NT_005999.15_957276 2003.06.28 2003.10.10 2000.07.12 2013.01.17 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 16973014 323891 CSHL-HuAA-200402.chr3.NT_022517.16_51941814 2004.02.18 2004.03.04 2000.07.12 2013.01.17 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 17756692 323891 CSHL-HuCC-200402.chr3.NT_022517.16_51941814 2004.02.19 2004.03.04 2000.07.12 2013.01.17 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 19537565 323891 CSHL-HuDD-200402.chr3.NT_022517.16_51941814 2004.02.21 2004.03.04 2000.07.12 2013.01.17 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 20173030 323891 CSHL-HuFF-200402.chr3.NT_022517.16_51941814 2004.02.22 2004.03.04 2000.07.12 2013.01.17 137 SSAHASNP 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 21922255 323891 WGSA-200403-chr3.chr3.NT_022517.16_51941814 2004.03.20 2004.03.20 2000.07.12 2013.01.17 137 HGSV 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 85709009 323891 Cor18517_SNV_20070510.chr3_51993376 2007.12.10 2007.12.10 2000.07.12 2013.01.17 137 1000GENOMES 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 110141373 323891 NA19240_2008_12_16_624829_chr3_51993376 2008.12.17 2008.12.17 2000.07.12 2013.01.17 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 163404081 323891 NA19240_36_chr3_51993376 2009.09.29 2009.09.29 2000.07.12 2013.01.17 137 BUSHMAN 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 202507202 323891 BUSHMAN-chr3-51993375 2010.03.08 2010.03.08 2000.07.12 2013.01.17 137 1000GENOMES 100526760 NC_000003.11:g.52018336C>T;NR_037192.1:n.619+162C>T 220131248 323891 pilot_1_YRI_1940931_chr3_51993376 2010.04.22 2010.04.22 2000.07.12 2013.01.17 137 BCMHGSC_JDW 100526760 NC_000003.11:g.52018507G>T;NR_037192.1:n.619+333G>T 92086229 62259755 JWB-3065063 1.30e-01 2008.03.02 2008.03.02 2008.03.24 2012.11.28 137 ENSEMBL 100526760 NC_000003.11:g.52018507G>T;NR_037192.1:n.619+333G>T 138859586 62259755 ENSSNP12310031 1.30e-01 2009.05.18 2009.05.18 2008.03.24 2012.11.28 137 GMI 100526760 NC_000003.11:g.52018507G>T;NR_037192.1:n.619+333G>T 277121477 62259755 GMI_AK_SNP_1441686 1.30e-01 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018507G>T;NR_037192.1:n.619+333G>T 456184184 62259755 20101123_snps_2351414_chr3_52018507 1.30e-01 2011.07.20 2011.07.20 2008.03.24 2012.11.28 137 BCMHGSC_JDW 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 92086232 62259756 JWB-3065064 1.31e-01 2008.03.02 2008.03.02 2008.03.24 2012.11.28 137 BGI 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 103936516 62259756 BGI_YHSNP0216435 1.31e-01 2008.06.07 2009.06.18 2008.03.24 2012.11.28 137 ENSEMBL 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 138859589 62259756 ENSSNP12310032 1.31e-01 2009.05.18 2009.05.18 2008.03.24 2012.11.28 137 GMI 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 155452069 62259756 GMI_SNP_27634076 1.31e-01 2009.06.24 2009.06.24 2008.03.24 2012.11.28 137 GMI 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 277121478 62259756 GMI_AK_SNP_1441687 1.31e-01 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 456184185 62259756 20101123_snps_2351415_chr3_52018509 1.31e-01 2011.07.20 2011.07.20 2008.03.24 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 483627267 62259756 HumanOmni2.5-4v1_D_kgp5907402-0_B_R_1798663605 1.31e-01 2012.02.02 2012.02.02 2008.03.24 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018509A>G;NR_037192.1:n.619+335A>G 484597273 62259756 HumanOmni2.5-4v1_B_SNP3-51993549-0_B_R_1615220403 1.31e-01 2012.02.04 2012.02.04 2008.03.24 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018509delA;NR_037192.1:n.619+335delA 499765769 200903260 20110316_indels_chr3_52018508_52018508 1.31e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52018638T>C;NR_037192.1:n.619+464T>C 330687232 146278756 20100804_snps_2330768_chr3_52018638 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52018746G>A;NR_037192.1:n.620-477G>A 456184186 186246885 20101123_snps_2351416_chr3_52018746 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 100526760 NC_000003.11:g.52018798_52018799insA;NR_037192.1:n.620-425_620-424insA 41989289 35346203 hCV33913803 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 ABI 100526760 NC_000003.11:g.52018831delA;NR_037192.1:n.620-392delA 41927206 34294622 hCV33913804 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 ENSEMBL 100526760 NC_000003.11:g.52018833A>C;NR_037192.1:n.620-390A>C 138859592 76718332 ENSSNP12310033 2009.05.18 2009.05.18 2009.12.01 2011.09.09 137 DEVINE_LAB 100526760 NC_000003.11:g.52018831_52018832insA;NR_037192.1:n.620-392_620-391insA 102165207 72371856 INDEL_GP36_2008a_2055969_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 ENSEMBL 100526760 NC_000003.11:g.52018856G>A;NR_037192.1:n.620-367G>A 138859595 77168544 ENSSNP12310034 2009.05.18 2009.05.18 2009.12.01 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018856G>A;NR_037192.1:n.620-367G>A 483931263 77168544 HumanOmni2.5-4v1_D_kgp7561394-0_B_R_1806028908 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52018856G>A;NR_037192.1:n.620-367G>A 484597275 77168544 HumanOmni2.5-4v1_B_SNP3-51993896-0_B_R_1646168170 2012.02.04 2012.02.04 2009.12.01 2012.11.28 137 ENSEMBL 100526760 NC_000003.11:g.52018857A>G;NR_037192.1:n.620-366A>G 138859598 79588843 ENSSNP12310035 2009.05.18 2009.05.18 2009.12.01 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52018877C>T;NR_037192.1:n.620-346C>T 456184187 191052760 20101123_snps_2351417_chr3_52018877 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52018997C>T;NR_037192.1:n.620-226C>T 456184188 180706866 20101123_snps_2351418_chr3_52018997 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52019235C>G;NR_037192.1:n.632C>G 488758490 201362814 20110521_exome_55042_chr3_52019235 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GMI 100526760 NC_000003.11:g.52019263G>C;NR_037192.1:n.660G>C 277121479 199711070 GMI_AK_SNP_1441688 3.20e-03 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019263G>C;NR_037192.1:n.660G>C 488758492 199711070 20110521_exome_55043_chr3_52019263 3.20e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52019297G>A;NR_037192.1:n.684+10G>A 202507206 113272065 BUSHMAN-chr3-51994336 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52019401G>A;NR_037192.1:n.709G>A 491835295 202206383 SNV-chr3-51994441 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52019427T>G;NR_037192.1:n.735T>G 342133020 137929799 ESP2500-chr3-52019427 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52019428A>G;NR_037192.1:n.736A>G 488758494 199510878 20110521_exome_55044_chr3_52019428 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019453C>T;NR_037192.1:n.761C>T 488758496 201515405 20110521_exome_55045_chr3_52019453 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019700A>G;NR_037192.1:n.790-168A>G 330687233 139048354 20100804_snps_2330769_chr3_52019700 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52019710G>A;NR_037192.1:n.790-158G>A 330687234 143989731 20100804_snps_2330770_chr3_52019710 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 100526760 NC_000003.11:g.52019768C>G;NR_037192.1:n.790-100C>G 202507210 111926381 BUSHMAN-chr3-51994807 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52019840G>C;NR_037192.1:n.790-28G>C 488758498 200500757 20110521_exome_55046_chr3_52019840 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019861C>T;NR_037192.1:n.790-7C>T 330687235 150956099 20100804_snps_2330771_chr3_52019861 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52019861C>T;NR_037192.1:n.790-7C>T 491835296 150956099 SNV-chr3-51994901 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52019910G>C;NR_037192.1:n.832G>C 491835297 201048015 SNV-chr3-51994950 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019928A>G;NR_037192.1:n.850A>G 330687236 139537461 20100804_snps_2330772_chr3_52019928 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52019928A>G;NR_037192.1:n.850A>G 491340589 139537461 nonsyn_56816_chr_3_52019928 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52019935C>T;NR_037192.1:n.857C>T 342133021 149475049 ESP2500-chr3-52019935 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52019935C>T;NR_037192.1:n.857C>T 491340590 149475049 nonsyn_56817_chr_3_52019935 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52019951C>A;NR_037192.1:n.873C>A 488758500 199990594 20110521_exome_55047_chr3_52019951 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 414296 323892 OVLP-000621-280778 7.28e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 519397 323892 AC027396.3_134030 7.28e-02 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 1036652 323892 OVLP-000804-487566 7.28e-02 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 1338932 323892 TSC0184788 7.28e-02 2000.09.06 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 1829157 323892 OVLP-000925-375206 7.28e-02 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 14207270 323892 chr3.NT_022517.16_51943497 7.28e-02 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 19530964 323892 CSHL-HuDD-200402.chr3.NT_022517.16_51943497 7.28e-02 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 21878288 323892 WGSA-200403-chr3.chr3.NT_022517.16_51943497 7.28e-02 2004.03.20 2004.03.20 2000.07.12 2012.11.28 137 ABI 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 44464017 323892 hCV2302108 7.28e-02 2005.07.19 2006.11.03 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 75135255 323892 ILMN_Human_1M_rs323892 7.28e-02 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 110141381 323892 NA19240_2008_12_16_624830_chr3_51995059 7.28e-02 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 119349812 323892 KHS1512059 7.28e-02 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 160617109 323892 HumanOmni1-Quad_v1-0_B_rs323892-128_T_F_1514101764 7.28e-02 2009.08.06 2009.10.04 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 163404085 323892 NA19240_36_chr3_51995059 7.28e-02 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 173578003 323892 Human1M-Duov3_B_rs323892-127_T_F_1514101764 7.28e-02 2009.10.04 2009.10.04 2000.07.12 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 202507214 323892 BUSHMAN-chr3-51995058 7.28e-02 2010.03.08 2010.03.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 220131249 323892 pilot_1_YRI_1940932_chr3_51995059 7.28e-02 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 480770855 323892 HumanOmni2.5-4v1_B_rs323892-128_T_F_1514101764 7.28e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 480786648 323892 HumanOmniExpress-12v1_C_rs323892-131_T_F_1857431557 7.28e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 481682999 323892 HumanOmni1-Quad_v1-0_C_rs323892-131_T_F_1865498683 7.28e-02 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020019A>C;NR_037192.1:n.884+57A>C 485180149 323892 HumanOmni2.5-4v1_D_rs323892-131_T_F_1857431557 7.28e-02 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020021C>G;NR_037192.1:n.884+59C>G 330687237 150031355 20100804_snps_2330773_chr3_52020021 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 89281 82854 TSC0105836 6.27e-02 2000.09.06 2003.10.10 2000.07.10 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 414297 82854 OVLP-000621-280779 6.27e-02 2000.06.30 2003.10.10 2000.07.10 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 555752 82854 AC027396.3_134074 6.27e-02 2000.07.12 2003.10.10 2000.07.10 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 1036651 82854 OVLP-000804-487565 6.27e-02 2000.09.02 2003.10.10 2000.07.10 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 1829156 82854 OVLP-000925-375205 6.27e-02 2000.10.06 2003.10.10 2000.07.10 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 5167055 82854 TSC0427226 6.27e-02 2002.09.19 2003.10.10 2000.07.10 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 14229599 82854 chr3.NT_022517.16_51943541 6.27e-02 2003.11.07 2003.11.22 2000.07.10 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 19544341 82854 CSHL-HuDD-200402.chr3.NT_022517.16_51943541 6.27e-02 2004.02.21 2004.03.04 2000.07.10 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 21968119 82854 WGSA-200403-chr3.chr3.NT_022517.16_51943541 6.27e-02 2004.03.20 2004.03.20 2000.07.10 2012.11.28 137 ABI 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 44424392 82854 hCV2302107 6.27e-02 2005.07.18 2005.07.18 2000.07.10 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 110141389 82854 NA19240_2008_12_16_624831_chr3_51995103 6.27e-02 2008.12.17 2008.12.17 2000.07.10 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 163404090 82854 NA19240_36_chr3_51995103 6.27e-02 2009.09.29 2009.09.29 2000.07.10 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 202507218 82854 BUSHMAN-chr3-51995102 6.27e-02 2010.03.08 2010.03.08 2000.07.10 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020063C>T;NR_037192.1:n.884+101C>T 220131250 82854 pilot_1_YRI_1940933_chr3_51995103 6.27e-02 2010.04.22 2010.04.22 2000.07.10 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020105A>G;NR_037192.1:n.884+143A>G 220131251 79933880 pilot_1_YRI_1940934_chr3_51995145 2.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52020295G>T;NR_037192.1:n.909G>T 342133023 138461347 ESP2500-chr3-52020295 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020295G>T;NR_037192.1:n.909G>T 488758503 138461347 20110521_exome_55048_chr3_52020295 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52020295G>T;NR_037192.1:n.909G>T 491835298 138461347 SNV-chr3-51995335 9.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 414298 323893 OVLP-000621-280780 1.22e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 588079 323893 AC006255.9_7582 1.22e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 1036650 323893 OVLP-000804-487564 1.22e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 1338933 323893 TSC0184789 1.22e-01 2000.09.06 2004.05.16 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 1829155 323893 OVLP-000925-375204 1.22e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 3196712 323893 IMS-JST012634 1.22e-01 2001.08.07 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 5468605 323893 TSC0850114 1.22e-01 2002.09.21 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 5930916 323893 NT_005986.12_781530 1.22e-01 2003.01.11 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 6456155 323893 NT_005986.13_612130 1.22e-01 2003.02.12 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 11537453 323893 chr3.NT_005999.15_959351 1.22e-01 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 14230147 323893 chr3.NT_022517.16_51943889 1.22e-01 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 21970372 323893 WGSA-200403-chr3.chr3.NT_022517.16_51943889 1.22e-01 2004.03.20 2004.03.20 2000.07.12 2012.11.28 137 ABI 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 44468071 323893 hCV2302106 1.22e-01 2005.07.19 2006.11.03 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 75208988 323893 ILMN_Human_1M_rs323893 1.22e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 85121889 323893 Cor18517_SNV_20070510.chr3_51995451 1.22e-01 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 110141398 323893 NA19240_2008_12_16_624832_chr3_51995451 1.22e-01 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 119349813 323893 KHS1512060 1.22e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 163404095 323893 NA19240_36_chr3_51995451 1.22e-01 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 173578005 323893 Human1M-Duov3_B_rs323893-127_T_R_1514175652 1.22e-01 2009.10.04 2009.10.04 2000.07.12 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 202507222 323893 BUSHMAN-chr3-51995450 1.22e-01 2010.03.08 2010.03.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 220131252 323893 pilot_1_YRI_1940935_chr3_51995451 1.22e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 231816405 323893 pilot_1_CEU_1421034_chr3_51995451 1.22e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 239231238 323893 pilot_1_CHB+JPT_1116315_chr3_51995451 1.22e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 GMI 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 277121480 323893 GMI_AK_SNP_1441689 1.22e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020411C>T;NR_037192.1:n.962-20C>T 489880374 323893 20110521_exome_373369_chr3_52020411 1.22e-01 2012.02.15 2012.02.21 2000.07.12 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52020459G>A;NR_037192.1:n.990G>A 342133026 140980909 ESP2500-chr3-52020459 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52020460G>A;NR_037192.1:n.991G>A 342133027 141575987 ESP2500-chr3-52020460 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52020476G>A;NR_037192.1:n.1007G>A 488758505 202098129 20110521_exome_55049_chr3_52020476 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52020483G>A;NR_037192.1:n.1014G>A 342133029 139260677 ESP2500-chr3-52020483 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52020515A>G;NR_037192.1:n.1046A>G 491835299 200314495 SNV-chr3-51995555 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 1315655 887541 TSC0155919 1.97e-02 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 75065375 887541 ILMN_Human_1M_rs887541 1.97e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 119371988 887541 KHS1534235 1.97e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 174767568 887541 Human1M-Duov3_B_rs887541-127_B_F_1514054002 1.97e-02 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 202507227 887541 BUSHMAN-chr3-51995643 1.97e-02 2010.03.08 2010.03.08 2000.10.05 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 220131253 887541 pilot_1_YRI_1940936_chr3_51995644 1.97e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 489880376 887541 20110521_exome_373370_chr3_52020604 1.97e-02 2012.02.15 2012.02.21 2000.10.05 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52020604C>A;NR_037192.1:n.1052-17C>A 491835300 887541 SNV-chr3-51995644 1.97e-02 2012.03.07 2012.03.13 2000.10.05 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 1315654 887540 TSC0155918 4.60e-03 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 5461707 887540 TSC0184790 4.60e-03 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 74911344 887540 ILMN_Human_1M_rs887540 4.60e-03 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 119371987 887540 KHS1534234 4.60e-03 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 160963052 887540 HumanOmni1-Quad_v1-0_B_rs887540-128_B_F_1513948975 4.60e-03 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 174767565 887540 Human1M-Duov3_B_rs887540-127_B_F_1513948975 4.60e-03 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 220131254 887540 pilot_1_YRI_1940937_chr3_51995670 4.60e-03 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 342133033 887540 ESP2500-chr3-52020630 4.60e-03 2011.03.26 2011.03.26 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 481826167 887540 HumanOmni2.5-4v1_B_rs887540-128_B_F_1513948975 4.60e-03 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 481858674 887540 HumanOmniExpress-12v1_C_rs887540-131_B_F_1857545973 4.60e-03 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 482817933 887540 HumanOmni1-Quad_v1-0_C_rs887540-131_B_F_1865368120 4.60e-03 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 485707610 887540 HumanOmni2.5-4v1_D_rs887540-131_B_F_1857545973 4.60e-03 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 489880378 887540 20110521_exome_373371_chr3_52020630 4.60e-03 2012.02.15 2012.02.21 2000.10.05 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 491340591 887540 nonsyn_56818_chr_3_52020630 4.60e-03 2012.03.05 2012.03.05 2000.10.05 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52020630A>G;NR_037192.1:n.1061A>G 491835301 887540 SNV-chr3-51995670 4.60e-03 2012.03.07 2012.03.13 2000.10.05 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020631T>C;NR_037192.1:n.1062T>C 456184189 185086428 20101123_snps_2351419_chr3_52020631 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020631T>C;NR_037192.1:n.1062T>C 489880380 185086428 20110521_exome_373372_chr3_52020631 1.40e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 ABI 100526760 NC_000003.11:g.52020791C>T;NR_037192.1:n.1108+114C>T 42065040 34300686 hCV2653789 4.10e-03 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 ENSEMBL 100526760 NC_000003.11:g.52020791C>T;NR_037192.1:n.1108+114C>T 142484698 34300686 ENSSNP4842684 4.10e-03 2009.06.05 2009.10.16 2006.03.13 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020791C>T;NR_037192.1:n.1108+114C>T 160621050 34300686 HumanOmni1-Quad_v1-0_B_rs34300686-128_B_F_1572862941 4.10e-03 2009.08.06 2009.10.04 2006.03.13 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020791C>T;NR_037192.1:n.1108+114C>T 456184190 34300686 20101123_snps_2351420_chr3_52020791 4.10e-03 2011.07.20 2011.07.20 2006.03.13 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52020791C>T;NR_037192.1:n.1108+114C>T 481698832 34300686 HumanOmni1-Quad_v1-0_C_rs34300686-131_B_F_1863340939 4.10e-03 2012.02.01 2012.02.01 2006.03.13 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52020875G>C;NR_037192.1:n.1109-129G>C 330687238 145367731 20100804_snps_2330774_chr3_52020875 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 OMIM-CURATED-RECORDS 100526760 NP_000657.1:p.ARG197TRP NC_000003.11:g.52021009C>T;NR_037192.1:n.1114C>T 275513907 121912700 266 germline pathogenic 2010.11.22 2010.11.22 2010.11.22 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52021009C>T;NR_037192.1:n.1114C>T 342133035 121912700 ESP2500-chr3-52021009 germline pathogenic 2011.03.26 2011.03.26 2010.11.22 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021009C>T;NR_037192.1:n.1114C>T 491835302 121912700 SNV-chr3-51996049 germline pathogenic 2012.03.07 2012.03.13 2010.11.22 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52021010G>A;NR_037192.1:n.1115G>A 342133036 143611624 ESP2500-chr3-52021010 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52021010G>A;NR_037192.1:n.1115G>A 491340592 143611624 nonsyn_56819_chr_3_52021010 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52021045C>T;NR_037192.1:n.1150C>T 342133038 140738368 ESP2500-chr3-52021045 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52021045C>T;NR_037192.1:n.1150C>T 491340593 140738368 nonsyn_56820_chr_3_52021045 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52021069G>A;NR_037192.1:n.1174G>A 342133040 138765157 ESP2500-chr3-52021069 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52021082G>A;NR_037192.1:n.1182+5G>A 488758507 201184882 20110521_exome_55050_chr3_52021082 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 414299 323894 OVLP-000621-280781 1.01e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 603107 323894 AC006255.9_6901 1.01e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 1036649 323894 OVLP-000804-487563 1.01e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 1829154 323894 OVLP-000925-375203 1.01e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 3196711 323894 IMS-JST012633 1.01e-01 2001.08.07 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 14213484 323894 chr3.NT_022517.16_51944570 1.01e-01 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 21903714 323894 WGSA-200403-chr3.chr3.NT_022517.16_51944570 1.01e-01 2004.03.20 2004.03.20 2000.07.12 2012.11.28 137 ABI 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 44476678 323894 hCV2302105 1.01e-01 2005.07.19 2005.07.19 2000.07.12 2012.11.28 137 HGSV 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 85095082 323894 Cor19240_SNV_20070510.chr3_51996132 1.01e-01 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 110141406 323894 NA19240_2008_12_16_624833_chr3_51996132 1.01e-01 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 163404101 323894 NA19240_36_chr3_51996132 1.01e-01 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 202507232 323894 BUSHMAN-chr3-51996131 1.01e-01 2010.03.08 2010.03.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 220131255 323894 pilot_1_YRI_1940938_chr3_51996132 1.01e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 239231239 323894 pilot_1_CHB+JPT_1116316_chr3_51996132 1.01e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 GMI 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 277121481 323894 GMI_AK_SNP_1441690 1.01e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 489880382 323894 20110521_exome_373373_chr3_52021092 1.01e-01 2012.02.15 2012.02.21 2000.07.12 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021092A>G;NR_037192.1:n.1182+15A>G 491835303 323894 SNV-chr3-51996132 1.01e-01 2012.03.07 2012.03.13 2000.07.12 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52021121T>C;NR_037192.1:n.1183-42T>C 202507237 112726414 BUSHMAN-chr3-51996160 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 OMIM-CURATED-RECORDS 100526760 NM_000666.1:c.699A>C NC_000003.11:g.52021204A>C;NR_037192.1:n.1224A>C 275513906 121912699 264 germline pathogenic 2010.11.22 2010.11.22 2010.11.22 2012.09.29 137 NHLBI-ESP 100526760 NC_000003.11:g.52021205T>C;NR_037192.1:n.1225T>C 342133042 146664871 ESP2500-chr3-52021205 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52021222C>A;NR_037192.1:n.1232+10C>A 330687239 142558042 20100804_snps_2330775_chr3_52021222 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021222C>A;NR_037192.1:n.1232+10C>A 489880384 142558042 20110521_exome_373374_chr3_52021222 1.80e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021308C>T;NR_037192.1:n.1233-17C>T 488758509 200262033 20110521_exome_55051_chr3_52021308 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 414300 323895 OVLP-000621-280782 1.21e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 512366 323895 AC027396.3_135327 1.21e-01 2000.07.12 2004.04.07 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 1036648 323895 OVLP-000804-487562 1.21e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 1829153 323895 OVLP-000925-375202 1.21e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 14213880 323895 chr3.NT_022517.16_51944794 1.21e-01 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 19534963 323895 CSHL-HuDD-200402.chr3.NT_022517.16_51944794 1.21e-01 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 21905172 323895 WGSA-200403-chr3.chr3.NT_022517.16_51944794 1.21e-01 2004.03.20 2004.03.20 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 75218206 323895 ILMN_Human_1M_rs323895 1.21e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 84513681 323895 Cor19240_SNV_20070510.chr3_51996356 1.21e-01 2007.12.07 2007.12.07 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 110141414 323895 NA19240_2008_12_16_624834_chr3_51996356 1.21e-01 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 119349814 323895 KHS1512061 1.21e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 160617110 323895 HumanOmni1-Quad_v1-0_B_rs323895-128_T_R_1514175653 1.21e-01 2009.08.06 2009.10.04 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 173578007 323895 Human1M-Duov3_B_rs323895-127_T_R_1514175653 1.21e-01 2009.10.04 2009.10.04 2000.07.12 2012.11.28 137 BUSHMAN 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 202507241 323895 BUSHMAN-chr3-51996355 1.21e-01 2010.03.08 2010.03.08 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 220131256 323895 pilot_1_YRI_1940939_chr3_51996356 1.21e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 231816406 323895 pilot_1_CEU_1421035_chr3_51996356 1.21e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 239231240 323895 pilot_1_CHB+JPT_1116317_chr3_51996356 1.21e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 480770859 323895 HumanOmni2.5-4v1_B_rs323895-128_T_R_1514175653 1.21e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 480786652 323895 HumanOmniExpress-12v1_C_rs323895-131_T_R_1857431558 1.21e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 481683002 323895 HumanOmni1-Quad_v1-0_C_rs323895-131_T_R_1865521626 1.21e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 485180151 323895 HumanOmni2.5-4v1_D_rs323895-131_T_R_1857431558 1.21e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 489880386 323895 20110521_exome_373375_chr3_52021316 1.21e-01 2012.02.15 2012.02.21 2000.07.12 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021316A>G;NR_037192.1:n.1233-9A>G 491835304 323895 SNV-chr3-51996356 1.21e-01 2012.03.07 2012.03.13 2000.07.12 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021394C>T;NR_037192.1:n.1302C>T 491835305 200799186 SNV-chr3-51996434 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52021422A>G;NR_037192.1:n.1330A>G 491340594 201775925 nonsyn_56821_chr_3_52021422 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021422A>G;NR_037192.1:n.1330A>G 491835306 201775925 SNV-chr3-51996462 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52021443C>T;NR_037192.1:n.1351C>T 342133045 144857039 ESP2500-chr3-52021443 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021453C>T;NR_037192.1:n.1361C>T 491835307 199947344 SNV-chr3-51996493 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52021478T>C;NR_037192.1:n.1377+9T>C 491835308 200803468 SNV-chr3-51996518 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 ABI 100526760 NC_000003.11:g.52021501_52021502insG;NR_037192.1:n.1377+32_1377+33insG 41930404 35075916 hCV33913805 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 100526760 NC_000003.11:g.52021524A>G;NR_037192.1:n.1378-48A>G 220131257 114406523 pilot_1_YRI_1940940_chr3_51996564 8.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021524A>G;NR_037192.1:n.1378-48A>G 489880388 114406523 20110521_exome_373376_chr3_52021524 8.70e-03 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021590C>G;NR_037192.1:n.1396C>G 488758511 202245244 20110521_exome_55052_chr3_52021590 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021614G>A;NR_037192.1:n.1420G>A 488758513 201547992 20110521_exome_55053_chr3_52021614 1.40e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52021614G>A;NR_037192.1:n.1420G>A 491340595 201547992 nonsyn_56822_chr_3_52021614 1.40e-03 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021643A>G;NR_037192.1:n.1446+3A>G 488758515 200621975 20110521_exome_55054_chr3_52021643 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52021749A>G;NR_037192.1:n.1446+109A>G 330687240 146893272 20100804_snps_2330776_chr3_52021749 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52021759G>A;NR_037192.1:n.1446+119G>A 456184191 183323554 20101123_snps_2351421_chr3_52021759 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52021939G>A;NR_037192.1:n.1446+299G>A 330687241 147957799 20100804_snps_2330777_chr3_52021939 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52022045C>A;NR_037192.1:n.1446+405C>A 17757303 11924757 CSHL-HuCC-200402.chr3.NT_022517.16_51945523 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52022296G>A;NR_037192.1:n.1447-244G>A 456184192 188116490 20101123_snps_2351422_chr3_52022296 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52022469C>T;NR_037192.1:n.1447-71C>T 330687242 141541730 20100804_snps_2330778_chr3_52022469 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52022551C>T;NR_037192.1:n.1458C>T 488758517 199526655 20110521_exome_55055_chr3_52022551 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52022558G>T;NR_037192.1:n.1465G>T 342133046 148501801 ESP2500-chr3-52022558 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022558G>T;NR_037192.1:n.1465G>T 491835309 148501801 SNV-chr3-51997598 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52022572T>C;NR_037192.1:n.1479T>C 342133048 146063664 ESP2500-chr3-52022572 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 100526760 NC_000003.11:g.52022604G>A;NR_037192.1:n.1511G>A 491340596 200685202 nonsyn_56823_chr_3_52022604 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022606G>A;NR_037192.1:n.1513G>A 491835310 200116455 SNV-chr3-51997646 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022607T>A;NR_037192.1:n.1514T>A 488758519 201833015 20110521_exome_55056_chr3_52022607 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 SI_EXO 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 52062528 41292352 NT_022517.17_51962782 1.60e-02 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 160661769 41292352 HumanOmni1-Quad_v1-0_B_rs41292352-128_B_R_1572862943 1.60e-02 2009.08.06 2009.10.04 2006.10.18 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 231816407 41292352 pilot_1_CEU_1421036_chr3_51997782 1.60e-02 2010.05.01 2010.05.01 2006.10.18 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 481861712 41292352 HumanOmni1-Quad_v1-0_C_rs41292352-131_B_R_1863349306 1.60e-02 2012.02.01 2012.02.01 2006.10.18 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 489880390 41292352 20110521_exome_373377_chr3_52022742 1.60e-02 2012.02.15 2012.02.21 2006.10.18 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022742G>A;NR_037192.1:n.1527-40G>A 491835311 41292352 SNV-chr3-51997782 1.60e-02 2012.03.07 2012.03.13 2006.10.18 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52022779C>T;NR_037192.1:n.1527-3C>T 168895457 112229877 Human1M-Duov3_B_GA003334-0_B_F_1533420910 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 100526760 NC_000003.11:g.52022781G>T;NR_037192.1:n.1527-1G>T 168895480 112309661 Human1M-Duov3_B_GA003335-0_B_F_1533418126 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52022794G>A;NR_037192.1:n.1539G>A 342133051 146715684 ESP2500-chr3-52022794 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52022821T>C;NR_037192.1:n.1566T>C 342133053 149952009 ESP2500-chr3-52022821 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52022829G>A;NR_037192.1:n.1574G>A 342133054 145142945 ESP2500-chr3-52022829 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52022829G>A;NR_037192.1:n.1574G>A 491340597 145142945 nonsyn_56824_chr_3_52022829 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 OMIM-CURATED-RECORDS 100526760 NP_000657.1:p.ARG353CYS NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 275513905 121912698 263 5.00e-04 germline pathogenic 2010.11.22 2010.11.22 2010.11.22 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 342133056 121912698 ESP2500-chr3-52022837 5.00e-04 germline pathogenic 2011.03.26 2011.03.26 2010.11.22 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 456184193 121912698 20101123_snps_2351423_chr3_52022837 5.00e-04 germline pathogenic 2011.07.20 2011.07.20 2010.11.22 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 489880392 121912698 20110521_exome_373378_chr3_52022837 5.00e-04 germline pathogenic 2012.02.15 2012.02.21 2010.11.22 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 491340598 121912698 nonsyn_56825_chr_3_52022837 5.00e-04 germline pathogenic 2012.03.05 2012.03.05 2010.11.22 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022837C>T;NR_037192.1:n.1582C>T 491835312 121912698 SNV-chr3-51997877 5.00e-04 germline pathogenic 2012.03.07 2012.03.13 2010.11.22 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022852T>C;NR_037192.1:n.1587+10T>C 231816408 74974740 pilot_1_CEU_1421037_chr3_51997892 4.10e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022852T>C;NR_037192.1:n.1587+10T>C 489880394 74974740 20110521_exome_373379_chr3_52022852 4.10e-03 2012.02.15 2012.02.21 2009.12.01 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022852T>C;NR_037192.1:n.1587+10T>C 491835313 74974740 SNV-chr3-51997892 4.10e-03 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022858A>G;NR_037192.1:n.1587+16A>G 491835314 201015248 SNV-chr3-51997898 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022900C>G;NR_037192.1:n.1588-27C>G 456184194 183620848 20101123_snps_2351424_chr3_52022900 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022900C>G;NR_037192.1:n.1588-27C>G 489880396 183620848 20110521_exome_373380_chr3_52022900 9.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 GMI 100526760 NC_000003.11:g.52022926G>A;NR_037192.1:n.1588-1G>A 277121482 143678651 GMI_AK_SNP_1441691 1.40e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022926G>A;NR_037192.1:n.1588-1G>A 330687243 143678651 20100804_snps_2330779_chr3_52022926 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022926G>A;NR_037192.1:n.1588-1G>A 489880398 143678651 20110521_exome_373381_chr3_52022926 1.40e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52022926G>A;NR_037192.1:n.1588-1G>A 491340599 143678651 splice_56826_chr_3_52022926 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022963C>T;NR_037192.1:n.1624C>T 491835315 201696615 SNV-chr3-51998003 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52022964G>A;NR_037192.1:n.1625G>A 491340600 201647575 nonsyn_56827_chr_3_52022964 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 100526760 NC_000003.11:g.52022989C>T;NR_037192.1:n.1650C>T 330687244 148109993 20100804_snps_2330780_chr3_52022989 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52022989C>T;NR_037192.1:n.1650C>T 342133059 148109993 ESP2500-chr3-52022989 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52022989C>T;NR_037192.1:n.1650C>T 489880400 148109993 20110521_exome_373382_chr3_52022989 9.00e-04 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52022996C>T;NR_037192.1:n.1657C>T 342133060 148346337 ESP2500-chr3-52022996 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 100526760 NC_000003.11:g.52022997G>A;NR_037192.1:n.1658G>A 342133062 150480963 ESP2500-chr3-52022997 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52022997G>A;NR_037192.1:n.1658G>A 491835316 150480963 SNV-chr3-51998037 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 WICVAR 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 3176143 2229152 WI-18126 6.90e-03 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 74860458 2229152 ILMN_Human_1M_rs2229152 6.90e-03 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 ILLUMINA-UK 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 117080401 2229152 NA18507_000072282_NCBI36.1_chr3_51998060 6.90e-03 2009.01.18 2009.01.18 2001.08.15 2012.11.28 137 KRIBB_YJKIM 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 119421976 2229152 KHS1584223 6.90e-03 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 SEATTLESEQ 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 159705211 2229152 ACY1-51998060 6.90e-03 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 173192983 2229152 Human1M-Duov3_B_rs2229152-98_T_R_1513895186 6.90e-03 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 220131258 2229152 pilot_1_YRI_1940941_chr3_51998060 6.90e-03 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 342133064 2229152 ESP2500-chr3-52023020 6.90e-03 2011.03.26 2011.03.26 2001.08.15 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 481453099 2229152 HumanOmni2.5-4v1_D_kgp17741507-0_T_R_1825045895 6.90e-03 2012.02.01 2012.02.01 2001.08.15 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 484597277 2229152 HumanOmni2.5-4v1_B_SNP3-51998060-0_T_R_1638647445 6.90e-03 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 489880402 2229152 20110521_exome_373383_chr3_52023020 6.90e-03 2012.02.15 2012.02.21 2001.08.15 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 491340601 2229152 nonsyn_56828_chr_3_52023020 6.90e-03 2012.03.05 2012.03.05 2001.08.15 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52023020C>T;NR_037192.1:n.1681C>T 491835317 2229152 SNV-chr3-51998060 6.90e-03 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52023021G>A;NR_037192.1:n.1682G>A 491835318 202207844 SNV-chr3-51998061 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CGAP-GAI 100526760 NC_000003.11:g.52023031C>A;NR_037192.1:n.1692C>A 16240022 11544304 1477160 2003.11.18 2003.11.22 2004.02.28 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52023032A>G;NR_037192.1:n.1693A>G 491835319 200518761 SNV-chr3-51998072 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 10090215 6804746 chr3.NT_005999.15_961981 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 BCM_SSAHASNP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 14163738 6804746 chr3.NT_022517.16_51946519 2003.11.07 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 16935113 6804746 CSHL-HuAA-200402.chr3.NT_022517.16_51946519 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 17724357 6804746 CSHL-HuCC-200402.chr3.NT_022517.16_51946519 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 19504927 6804746 CSHL-HuDD-200402.chr3.NT_022517.16_51946519 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 21871015 6804746 WGSA-200403-chr3.chr3.NT_022517.16_51946519 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 MGC_GENOME_DIFF 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 28510310 6804746 BC000545x37550163-T51946519C 2004.08.25 2004.08.25 2003.07.11 2012.11.28 137 MGC_GENOME_DIFF 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 28510383 6804746 BC003023x37550163-T51946519C 2004.08.25 2004.08.25 2003.07.11 2012.11.28 137 MGC_GENOME_DIFF 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 28510749 6804746 BC014112x37550163-T51946519C 2004.08.25 2004.08.25 2003.07.11 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 160812288 6804746 HumanOmni1-Quad_v1-0_B_rs6804746-128_B_F_1562614416 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 342133067 6804746 ESP2500-chr3-52023041 2011.03.26 2011.03.26 2003.07.11 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 482366653 6804746 HumanOmni1-Quad_v1-0_C_rs6804746-131_B_F_1863398199 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52023041C>T;NR_037192.1:n.1702C>T 491340602 6804746 nonsyn_56829_chr_3_52023041 2012.03.05 2012.03.05 2003.07.11 2012.11.28 137 OMIM-CURATED-RECORDS 100526760 NP_000657.1:p.ARG393HIS NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 275513908 121912701 267 4.10e-03 germline pathogenic 2010.11.22 2010.11.22 2010.11.22 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 330687245 121912701 20100804_snps_2330781_chr3_52023042 4.10e-03 germline pathogenic 2011.03.22 2011.03.22 2010.11.22 2012.11.28 137 NHLBI-ESP 100526760 NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 342133068 121912701 ESP2500-chr3-52023042 4.10e-03 germline pathogenic 2011.03.26 2011.03.26 2010.11.22 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 489880404 121912701 20110521_exome_373384_chr3_52023042 4.10e-03 germline pathogenic 2012.02.15 2012.02.21 2010.11.22 2012.11.28 137 EXOME_CHIP 100526760 NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 491340603 121912701 nonsyn_56830_chr_3_52023042 4.10e-03 germline pathogenic 2012.03.05 2012.03.05 2010.11.22 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52023042G>A;NR_037192.1:n.1703G>A 491835320 121912701 SNV-chr3-51998082 4.10e-03 germline pathogenic 2012.03.07 2012.03.13 2010.11.22 2012.11.28 137 CLINSEQ_SNP 100526760 NC_000003.11:g.52023052T>A;NR_037192.1:n.1713T>A 491835321 199634670 SNV-chr3-51998092 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 237929 178917 OVLP-000621-280720 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 511364 178917 AC006255.9_4901 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 1060355 178917 OVLP-000804-487543 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 1856158 178917 OVLP-000925-375248 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 160461683 178917 HumanOmni1-Quad_v1-0_B_rs178917-128_B_F_1562603128 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 ILLUMINA 100526760 NC_000003.11:g.52023092G>C;NR_037192.1:n.1753G>C 481062578 178917 HumanOmni1-Quad_v1-0_C_rs178917-131_B_F_1863325559 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023148A>T;NR_037192.1:n.1809A>T 456184195 187850374 20101123_snps_2351425_chr3_52023148 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 100526760 NC_000003.11:g.52023182T>C;NR_037192.1:n.1843T>C 330687246 150225702 20100804_snps_2330782_chr3_52023182 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52023193G>C;NR_037192.1:n.1854G>C 330687247 138645688 20100804_snps_2330783_chr3_52023193 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 100526760 NC_000003.11:g.52023337T>C;NR_037192.1:n.1998T>C 330687248 76887619 20100804_snps_2330784_chr3_52023337 3.20e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 100526760 NC_000003.11:g.52023407T>C;NR_037192.1:n.2068T>C 330687249 146257644 20100804_snps_2330785_chr3_52023407 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 # Report date: 2013.2.9, Gene: ABHD14A-ACY1 (100526760), ss count: 425, rs count: 161.