# 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 3035 NC_000005.9:g.140053034G>A;NG_032158.1:g.22938C>T;NM_001258040.1:c.*808C>T;NM_001258041.1:c.*808C>T;NM_001258042.1:c.*808C>T;NM_002109.4:c.*808C>T 233171026 114176478 pilot_1_CEU_2775655_chr5_140033218 2.70e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140053034G>A;NG_032158.1:g.22938C>T;NM_001258040.1:c.*808C>T;NM_001258041.1:c.*808C>T;NM_001258042.1:c.*808C>T;NM_002109.4:c.*808C>T 491873361 114176478 SNV-chr5-140033218 2.70e-03 2012.03.07 2012.03.13 2010.07.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053060C>T;NG_032158.1:g.22912G>A;NM_001258040.1:c.*782G>A;NM_001258041.1:c.*782G>A;NM_001258042.1:c.*782G>A;NM_002109.4:c.*782G>A 488815562 201758745 20110521_exome_83644_chr5_140053060 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140053076G>A;NG_032158.1:g.22896C>T;NM_001258040.1:c.*766C>T;NM_001258041.1:c.*766C>T;NM_001258042.1:c.*766C>T;NM_002109.4:c.*766C>T 200937173 112439761 BUSHMAN-chr5-140033259 6.00e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053076G>A;NG_032158.1:g.22896C>T;NM_001258040.1:c.*766C>T;NM_001258041.1:c.*766C>T;NM_001258042.1:c.*766C>T;NM_002109.4:c.*766C>T 221997119 112439761 pilot_1_YRI_3806802_chr5_140033260 6.00e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053076G>A;NG_032158.1:g.22896C>T;NM_001258040.1:c.*766C>T;NM_001258041.1:c.*766C>T;NM_001258042.1:c.*766C>T;NM_002109.4:c.*766C>T 490911558 112439761 20110521_exome_419356_chr5_140053076 6.00e-03 2012.02.21 2012.02.21 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053167C>T;NG_032158.1:g.22805G>A;NM_001258040.1:c.*675G>A;NM_001258041.1:c.*675G>A;NM_001258042.1:c.*675G>A;NM_002109.4:c.*675G>A 332841423 148614030 20100804_snps_4484959_chr5_140053167 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053167C>T;NG_032158.1:g.22805G>A;NM_001258040.1:c.*675G>A;NM_001258041.1:c.*675G>A;NM_001258042.1:c.*675G>A;NM_002109.4:c.*675G>A 490911559 148614030 20110521_exome_419357_chr5_140053167 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053171C>A;NG_032158.1:g.22801G>T;NM_001258040.1:c.*671G>T;NM_001258041.1:c.*671G>T;NM_001258042.1:c.*671G>T;NM_002109.4:c.*671G>T 332841424 142088963 20100804_snps_4484960_chr5_140053171 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053171C>A;NG_032158.1:g.22801G>T;NM_001258040.1:c.*671G>T;NM_001258041.1:c.*671G>T;NM_001258042.1:c.*671G>T;NM_002109.4:c.*671G>T 490911560 142088963 20110521_exome_419358_chr5_140053171 2.70e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140053184G>C;NG_032158.1:g.22788C>G;NM_001258040.1:c.*658C>G;NM_001258041.1:c.*658C>G;NM_001258042.1:c.*658C>G;NM_002109.4:c.*658C>G 207258700 111519226 BCM_CMT_1011-1218513 2010.03.18 2010.03.18 2010.07.04 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140053278C>T;NG_032158.1:g.22694G>A;NM_001258040.1:c.*564G>A;NM_001258041.1:c.*564G>A;NM_001258042.1:c.*564G>A;NM_002109.4:c.*564G>A 332841425 151174822 20100804_snps_4484961_chr5_140053278 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 3547053 2530242 AC005369.1_62376 3.99e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 17848182 2530242 CSHL-HuCC-200402.chr5.NT_029289.10_1216278 3.99e-01 2004.02.19 2004.03.04 2001.09.28 2012.11.28 137 ABI 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 44673897 2530242 hCV3279671 3.99e-01 2005.07.19 2005.07.19 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 83075145 2530242 Cor18555_SNV_20070510.chr5_140033535 3.99e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 93269107 2530242 JWB-2047121 3.99e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 116832961 2530242 NA18507_000175734_NCBI36.1_chr5_140033535 3.99e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 143483993 2530242 ENSSNP12926684 3.99e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 156094093 2530242 GMI_SNP_93944672 3.99e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 162714208 2530242 NA07022_36_chr5_140033535 3.99e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 167145604 2530242 NA20431_36_chr5_140033535 3.99e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 200937177 2530242 BUSHMAN-chr5-140033534 3.99e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 206969826 2530242 BCM_CMT_1011-1122504 3.99e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 221997120 2530242 pilot_1_YRI_3806803_chr5_140033535 3.99e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 233171027 2530242 pilot_1_CEU_2775656_chr5_140033535 3.99e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 240287729 2530242 pilot_1_CHB+JPT_2172806_chr5_140033535 3.99e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 253846392 2530242 SNP140201_5_140033535 3.99e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 278502585 2530242 GMI_AK_SNP_2822824 3.99e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140053351G>C;NG_032158.1:g.22621C>G;NM_001258040.1:c.*491C>G;NM_001258041.1:c.*491C>G;NM_001258042.1:c.*491C>G;NM_002109.4:c.*491C>G 293471533 2530242 SNP_2977891_chr5_140033535 3.99e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140053484G>A;NG_032158.1:g.22488C>T;NM_001258040.1:c.*358C>T;NM_001258041.1:c.*358C>T;NM_001258042.1:c.*358C>T;NM_002109.4:c.*358C>T 200937181 112029988 BUSHMAN-chr5-140033667 2.70e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053484G>A;NG_032158.1:g.22488C>T;NM_001258040.1:c.*358C>T;NM_001258041.1:c.*358C>T;NM_001258042.1:c.*358C>T;NM_002109.4:c.*358C>T 332841426 112029988 20100804_snps_4484962_chr5_140053484 2.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140053494T>G;NG_032158.1:g.22478A>C;NM_001258040.1:c.*348A>C;NM_001258041.1:c.*348A>C;NM_001258042.1:c.*348A>C;NM_002109.4:c.*348A>C 4394427 3177856 ge395766 2002.04.25 2003.10.10 2002.05.29 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140053530G>C;NG_032158.1:g.22442C>G;NM_001258040.1:c.*312C>G;NM_001258041.1:c.*312C>G;NM_001258042.1:c.*312C>G;NM_002109.4:c.*312C>G 332841427 145532449 20100804_snps_4484963_chr5_140053530 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LEE 3035 NC_000005.9:g.140053532T>G;NG_032158.1:g.22440A>C;NM_001258040.1:c.*310A>C;NM_001258041.1:c.*310A>C;NM_001258042.1:c.*310A>C;NM_002109.4:c.*310A>C 1555444 1065342 1458485 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 3035 NC_000005.9:g.140053532T>G;NG_032158.1:g.22440A>C;NM_001258040.1:c.*310A>C;NM_001258041.1:c.*310A>C;NM_001258042.1:c.*310A>C;NM_002109.4:c.*310A>C 4401366 1065342 ge1458485 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 3035 NC_000005.9:g.140053532T>G;NG_032158.1:g.22440A>C;NM_001258040.1:c.*310A>C;NM_001258041.1:c.*310A>C;NM_001258042.1:c.*310A>C;NM_002109.4:c.*310A>C 4436473 1065342 e1458485 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140053561G>A;NG_032158.1:g.22411C>T;NM_001258040.1:c.*281C>T;NM_001258041.1:c.*281C>T;NM_001258042.1:c.*281C>T;NM_002109.4:c.*281C>T 221997121 77576083 pilot_1_YRI_3806804_chr5_140033745 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140053561G>A;NG_032158.1:g.22411C>T;NM_001258040.1:c.*281C>T;NM_001258041.1:c.*281C>T;NM_001258042.1:c.*281C>T;NM_002109.4:c.*281C>T 482520508 77576083 HumanOmni2.5-4v1_D_kgp22377511-0_B_R_1840648675 3.20e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140053561G>A;NG_032158.1:g.22411C>T;NM_001258040.1:c.*281C>T;NM_001258041.1:c.*281C>T;NM_001258042.1:c.*281C>T;NM_002109.4:c.*281C>T 484946088 77576083 HumanOmni2.5-4v1_B_SNP5-140033745-0_B_R_1638036416 3.20e-03 2012.02.04 2012.02.04 2009.12.01 2012.11.28 137 LEE 3035 NC_000005.9:g.140053570G>A;NG_032158.1:g.22402C>T;NM_001258040.1:c.*272C>T;NM_001258041.1:c.*272C>T;NM_001258042.1:c.*272C>T;NM_002109.4:c.*272C>T 1524666 1050222 395960 2000.09.13 2003.10.10 2000.10.05 2011.09.09 137 LEE 3035 NC_000005.9:g.140053570G>A;NG_032158.1:g.22402C>T;NM_001258040.1:c.*272C>T;NM_001258041.1:c.*272C>T;NM_001258042.1:c.*272C>T;NM_002109.4:c.*272C>T 4394428 1050222 ge395960 2002.04.25 2003.10.10 2000.10.05 2011.09.09 137 ILLUMINA 3035 NC_000005.9:g.140053570G>A;NG_032158.1:g.22402C>T;NM_001258040.1:c.*272C>T;NM_001258041.1:c.*272C>T;NM_001258042.1:c.*272C>T;NM_002109.4:c.*272C>T 75274953 1050222 ILMN_Human_1M_rs1050222 2007.08.29 2007.08.29 2000.10.05 2011.09.09 137 KRIBB_YJKIM 3035 NC_000005.9:g.140053570G>A;NG_032158.1:g.22402C>T;NM_001258040.1:c.*272C>T;NM_001258041.1:c.*272C>T;NM_001258042.1:c.*272C>T;NM_002109.4:c.*272C>T 119380358 1050222 KHS1542605 2009.02.04 2009.02.04 2000.10.05 2011.09.09 137 ILLUMINA 3035 NC_000005.9:g.140053570G>A;NG_032158.1:g.22402C>T;NM_001258040.1:c.*272C>T;NM_001258041.1:c.*272C>T;NM_001258042.1:c.*272C>T;NM_002109.4:c.*272C>T 170246290 1050222 Human1M-Duov3_B_rs1050222-106_B_F_1514239833 2009.10.01 2009.10.01 2000.10.05 2011.09.09 137 NHLBI-ESP 3035 NC_000005.9:g.140053853A>G;NG_032158.1:g.22119T>C;NM_001258040.1:c.1399T>C;NM_001258041.1:c.1459T>C;NM_001258042.1:c.1339T>C;NM_002109.4:c.1519T>C;NP_001244969.1:p.Cys467Arg;NP_001244970.1:p.Cys487Arg;NP_001244971.1:p.Cys447Arg;NP_002100.2:p.Cys507Arg 342189959 150090766 ESP2500-chr5-140053853 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140053888A>G;NG_032158.1:g.22084T>C;NM_001258040.1:c.1364T>C;NM_001258041.1:c.1424T>C;NM_001258042.1:c.1304T>C;NM_002109.4:c.1484T>C;NP_001244969.1:p.Val455Ala;NP_001244970.1:p.Val475Ala;NP_001244971.1:p.Val435Ala;NP_002100.2:p.Val495Ala 342189960 138377835 ESP2500-chr5-140053888 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140053935G>A;NG_032158.1:g.22037C>T;NM_001258040.1:c.1339-22C>T;NM_001258041.1:c.1399-22C>T;NM_001258042.1:c.1279-22C>T;NM_002109.4:c.1459-22C>T 458427683 192164884 20101123_snps_4594913_chr5_140053935 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053935G>A;NG_032158.1:g.22037C>T;NM_001258040.1:c.1339-22C>T;NM_001258041.1:c.1399-22C>T;NM_001258042.1:c.1279-22C>T;NM_002109.4:c.1459-22C>T 490911561 192164884 20110521_exome_419359_chr5_140053935 1.40e-03 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053956T>A;NG_032158.1:g.22016A>T;NM_001258040.1:c.1339-43A>T;NM_001258041.1:c.1399-43A>T;NM_001258042.1:c.1279-43A>T;NM_002109.4:c.1459-43A>T 113346454 73271578 NA19240_2008_12_16_1234881_chr5_140034140 2.70e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140053956T>A;NG_032158.1:g.22016A>T;NM_001258040.1:c.1339-43A>T;NM_001258041.1:c.1399-43A>T;NM_001258042.1:c.1279-43A>T;NM_002109.4:c.1459-43A>T 165928870 73271578 NA19240_36_chr5_140034140 2.70e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053956T>A;NG_032158.1:g.22016A>T;NM_001258040.1:c.1339-43A>T;NM_001258041.1:c.1399-43A>T;NM_001258042.1:c.1279-43A>T;NM_002109.4:c.1459-43A>T 332841428 73271578 20100804_snps_4484964_chr5_140053956 2.70e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140053956T>A;NG_032158.1:g.22016A>T;NM_001258040.1:c.1339-43A>T;NM_001258041.1:c.1399-43A>T;NM_001258042.1:c.1279-43A>T;NM_002109.4:c.1459-43A>T 490911562 73271578 20110521_exome_419360_chr5_140053956 2.70e-03 2012.02.21 2012.02.21 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054084G>A;NG_032158.1:g.21888C>T;NM_001258040.1:c.1339-171C>T;NM_001258041.1:c.1399-171C>T;NM_001258042.1:c.1279-171C>T;NM_002109.4:c.1459-171C>T 332841429 142630342 20100804_snps_4484965_chr5_140054084 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140054124A>C;NG_032158.1:g.21848T>G;NM_001258040.1:c.1338+140T>G;NM_001258041.1:c.1398+140T>G;NM_001258042.1:c.1278+140T>G;NM_002109.4:c.1458+140T>G 458427684 183419967 20101123_snps_4594914_chr5_140054124 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 81820499 58302597 Cor18555_SNV_20070510.chr5_140034441 2.17e-01 2007.12.01 2007.12.01 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 109460698 58302597 CEU.trio.12.15.2008_1374516_chr5_140034441 2.17e-01 2008.12.16 2008.12.16 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 162714215 58302597 NA07022_36_chr5_140034441 2.17e-01 2009.09.29 2009.09.29 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 167145612 58302597 NA20431_36_chr5_140034441 2.17e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 207104559 58302597 BCM_CMT_1011-1167287 2.17e-01 2010.03.18 2010.03.18 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 221997122 58302597 pilot_1_YRI_3806805_chr5_140034441 2.17e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 233171028 58302597 pilot_1_CEU_2775657_chr5_140034441 2.17e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 240287730 58302597 pilot_1_CHB+JPT_2172807_chr5_140034441 2.17e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 278502586 58302597 GMI_AK_SNP_2822825 2.17e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 490911563 58302597 20110521_exome_419361_chr5_140054257 2.17e-01 2012.02.21 2012.02.21 2007.12.15 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140054257C>T;NG_032158.1:g.21715G>A;NM_001258040.1:c.1338+7G>A;NM_001258041.1:c.1398+7G>A;NM_001258042.1:c.1278+7G>A;NM_002109.4:c.1458+7G>A 491873362 58302597 SNV-chr5-140034441 2.17e-01 2012.03.07 2012.03.13 2007.12.15 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140054270C>T;NG_032158.1:g.21702G>A;NM_001258040.1:c.1332G>A;NM_001258041.1:c.1392G>A;NM_001258042.1:c.1272G>A;NM_002109.4:c.1452G>A;NP_001244969.1:p.Arg444=;NP_001244970.1:p.Arg464=;NP_001244971.1:p.Arg424=;NP_002100.2:p.Arg484= 342189961 149283940 ESP2500-chr5-140054270 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140054277G>A;NC_000005.9:g.140054277G>C;NG_032158.1:g.21695C>G;NG_032158.1:g.21695C>T;NM_001258040.1:c.1325C>G;NM_001258040.1:c.1325C>T;NM_001258041.1:c.1385C>G;NM_001258041.1:c.1385C>T;NM_001258042.1:c.1265C>G;NM_001258042.1:c.1265C>T;NM_002109.4:c.1445C>G;NM_002109.4:c.1445C>T;NP_001244969.1:p.Thr442Arg;NP_001244969.1:p.Thr442Met;NP_001244970.1:p.Thr462Arg;NP_001244970.1:p.Thr462Met;NP_001244971.1:p.Thr422Arg;NP_001244971.1:p.Thr422Met;NP_002100.2:p.Thr482Arg;NP_002100.2:p.Thr482Met 342189962 147372931 ESP2500-chr5-140054277 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054277G>A;NC_000005.9:g.140054277G>C;NG_032158.1:g.21695C>G;NG_032158.1:g.21695C>T;NM_001258040.1:c.1325C>G;NM_001258040.1:c.1325C>T;NM_001258041.1:c.1385C>G;NM_001258041.1:c.1385C>T;NM_001258042.1:c.1265C>G;NM_001258042.1:c.1265C>T;NM_002109.4:c.1445C>G;NM_002109.4:c.1445C>T;NP_001244969.1:p.Thr442Arg;NP_001244969.1:p.Thr442Met;NP_001244970.1:p.Thr462Arg;NP_001244970.1:p.Thr462Met;NP_001244971.1:p.Thr422Arg;NP_001244971.1:p.Thr422Met;NP_002100.2:p.Thr482Arg;NP_002100.2:p.Thr482Met 458427685 147372931 20101123_snps_4594915_chr5_140054277 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054277G>A;NC_000005.9:g.140054277G>C;NG_032158.1:g.21695C>G;NG_032158.1:g.21695C>T;NM_001258040.1:c.1325C>G;NM_001258040.1:c.1325C>T;NM_001258041.1:c.1385C>G;NM_001258041.1:c.1385C>T;NM_001258042.1:c.1265C>G;NM_001258042.1:c.1265C>T;NM_002109.4:c.1445C>G;NM_002109.4:c.1445C>T;NP_001244969.1:p.Thr442Arg;NP_001244969.1:p.Thr442Met;NP_001244970.1:p.Thr462Arg;NP_001244970.1:p.Thr462Met;NP_001244971.1:p.Thr422Arg;NP_001244971.1:p.Thr422Met;NP_002100.2:p.Thr482Arg;NP_002100.2:p.Thr482Met 490911564 147372931 20110521_exome_419362_chr5_140054277 1.40e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140054277G>A;NC_000005.9:g.140054277G>C;NG_032158.1:g.21695C>G;NG_032158.1:g.21695C>T;NM_001258040.1:c.1325C>G;NM_001258040.1:c.1325C>T;NM_001258041.1:c.1385C>G;NM_001258041.1:c.1385C>T;NM_001258042.1:c.1265C>G;NM_001258042.1:c.1265C>T;NM_002109.4:c.1445C>G;NM_002109.4:c.1445C>T;NP_001244969.1:p.Thr442Arg;NP_001244969.1:p.Thr442Met;NP_001244970.1:p.Thr462Arg;NP_001244970.1:p.Thr462Met;NP_001244971.1:p.Thr422Arg;NP_001244971.1:p.Thr422Met;NP_002100.2:p.Thr482Arg;NP_002100.2:p.Thr482Met 491371629 147372931 nonsyn_87856_chr_5_140054277 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140054320C>T;NG_032158.1:g.21652G>A;NM_001258040.1:c.1282G>A;NM_001258041.1:c.1342G>A;NM_001258042.1:c.1222G>A;NM_002109.4:c.1402G>A;NP_001244969.1:p.Glu428Lys;NP_001244970.1:p.Glu448Lys;NP_001244971.1:p.Glu408Lys;NP_002100.2:p.Glu468Lys 491873363 199615869 SNV-chr5-140034504 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140054335C>T;NG_032158.1:g.21637G>A;NM_001258040.1:c.1267G>A;NM_001258041.1:c.1327G>A;NM_001258042.1:c.1207G>A;NM_002109.4:c.1387G>A;NP_001244969.1:p.Val423Met;NP_001244970.1:p.Val443Met;NP_001244971.1:p.Val403Met;NP_002100.2:p.Val463Met 342189963 139699964 ESP2500-chr5-140054335 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140054443G>C;NG_032158.1:g.21529C>G;NM_001258040.1:c.1192-33C>G;NM_001258041.1:c.1252-33C>G;NM_001258042.1:c.1132-33C>G;NM_002109.4:c.1312-33C>G 221997123 75397255 pilot_1_YRI_3806806_chr5_140034627 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054443G>C;NG_032158.1:g.21529C>G;NM_001258040.1:c.1192-33C>G;NM_001258041.1:c.1252-33C>G;NM_001258042.1:c.1132-33C>G;NM_002109.4:c.1312-33C>G 490911565 75397255 20110521_exome_419363_chr5_140054443 6.00e-03 2012.02.21 2012.02.21 2009.12.01 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140054443G>C;NG_032158.1:g.21529C>G;NM_001258040.1:c.1192-33C>G;NM_001258041.1:c.1252-33C>G;NM_001258042.1:c.1132-33C>G;NM_002109.4:c.1312-33C>G 491873364 75397255 SNV-chr5-140034627 6.00e-03 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 1314924 2530241 TSC0155021 3.98e-01 2002.09.21 2004.04.07 2001.09.28 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 3547052 2530241 AC005369.1_61242 3.98e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 5262140 2530241 TSC1739345 3.98e-01 2002.09.20 2004.10.21 2001.09.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 6790153 2530241 NT_029289.7_1178817 3.98e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 65756172 2530241 Human1-rs2530241 3.98e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 75014324 2530241 ILMN_Human_1M_rs2530241 3.98e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 79058228 2530241 Cor18507_SNV_20070510.chr5_140034669 3.98e-01 2007.10.22 2007.10.22 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 93269111 2530241 JWB-2047122 3.98e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 109460702 2530241 CEU.trio.12.15.2008_1374517_chr5_140034669 3.98e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 116832962 2530241 NA18507_000175735_NCBI36.1_chr5_140034669 3.98e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 119438354 2530241 KHS1600601 3.98e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 143483997 2530241 ENSSNP12926685 3.98e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 156094100 2530241 GMI_SNP_28183266 3.98e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 162714220 2530241 NA07022_36_chr5_140034669 3.98e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 167145620 2530241 NA20431_36_chr5_140034669 3.98e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 173382850 2530241 Human1M-Duov3_B_rs2530241-128_T_F_1513970571 3.98e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 200937185 2530241 BUSHMAN-chr5-140034668 3.98e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 206825168 2530241 BCM_CMT_1011-1074937 3.98e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 221997124 2530241 pilot_1_YRI_3806807_chr5_140034669 3.98e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 233171029 2530241 pilot_1_CEU_2775658_chr5_140034669 3.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 240287731 2530241 pilot_1_CHB+JPT_2172808_chr5_140034669 3.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 278502587 2530241 GMI_AK_SNP_2822826 3.98e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 293471534 2530241 SNP_2977892_chr5_140034669 3.98e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 483456799 2530241 HumanOmni2.5-4v1_D_kgp4984085-0_T_R_1822752359 3.98e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054485C>T;NG_032158.1:g.21487G>A;NM_001258040.1:c.1192-75G>A;NM_001258041.1:c.1252-75G>A;NM_001258042.1:c.1132-75G>A;NM_002109.4:c.1312-75G>A 484946090 2530241 HumanOmni2.5-4v1_B_SNP5-140034669-0_T_R_1634163481 3.98e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 APPLERA_GI 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 48412865 34790864 hCV25651229 2.70e-03 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 200937189 34790864 BUSHMAN-chr5-140034835 2.70e-03 2010.03.07 2010.03.07 2006.03.14 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 342189964 34790864 ESP2500-chr5-140054652 2.70e-03 2011.03.26 2011.03.26 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 458427686 34790864 20101123_snps_4594916_chr5_140054652 2.70e-03 2011.07.20 2011.07.20 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 490911566 34790864 20110521_exome_419364_chr5_140054652 2.70e-03 2012.02.21 2012.02.21 2006.03.14 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140054652G>C;NG_032158.1:g.21320C>G;NM_001258040.1:c.1141C>G;NM_001258041.1:c.1201C>G;NM_001258042.1:c.1081C>G;NM_002109.4:c.1261C>G;NP_001244969.1:p.Leu381Val;NP_001244970.1:p.Leu401Val;NP_001244971.1:p.Leu361Val;NP_002100.2:p.Leu421Val 491371630 34790864 nonsyn_87857_chr_5_140054652 2.70e-03 2012.03.05 2012.03.05 2006.03.14 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140054685G>A;NG_032158.1:g.21287C>T;NM_001258040.1:c.1108C>T;NM_001258041.1:c.1168C>T;NM_001258042.1:c.1048C>T;NM_002109.4:c.1228C>T;NP_001244969.1:p.Gln370Ter;NP_001244970.1:p.Gln390Ter;NP_001244971.1:p.Gln350Ter;NP_002100.2:p.Gln410Ter 491371631 201011416 stopgl_87858_chr_5_140054685 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 3035 NC_000005.9:g.140054692C>T;NG_032158.1:g.21280G>A;NM_001258040.1:c.1101G>A;NM_001258041.1:c.1161G>A;NM_001258042.1:c.1041G>A;NM_002109.4:c.1221G>A;NP_001244969.1:p.Thr367=;NP_001244970.1:p.Thr387=;NP_001244971.1:p.Thr347=;NP_002100.2:p.Thr407= 332841430 150274370 20100804_snps_4484966_chr5_140054692 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054692C>T;NG_032158.1:g.21280G>A;NM_001258040.1:c.1101G>A;NM_001258041.1:c.1161G>A;NM_001258042.1:c.1041G>A;NM_002109.4:c.1221G>A;NP_001244969.1:p.Thr367=;NP_001244970.1:p.Thr387=;NP_001244971.1:p.Thr347=;NP_002100.2:p.Thr407= 490911567 150274370 20110521_exome_419365_chr5_140054692 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140054699C>T;NG_032158.1:g.21273G>A;NM_001258040.1:c.1094G>A;NM_001258041.1:c.1154G>A;NM_001258042.1:c.1034G>A;NM_002109.4:c.1214G>A;NP_001244969.1:p.Arg365Gln;NP_001244970.1:p.Arg385Gln;NP_001244971.1:p.Arg345Gln;NP_002100.2:p.Arg405Gln 342189965 147185134 ESP2500-chr5-140054699 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 APPLERA_GI 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 48412864 34732372 hCV25651228 3.20e-03 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 74974317 34732372 ILMN_Human_1M_rs34732372 3.20e-03 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 113346465 34732372 NA19240_2008_12_16_1234882_chr5_140034901 3.20e-03 2008.12.18 2008.12.18 2006.03.14 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 119912492 34732372 KHS1914463 3.20e-03 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 SEATTLESEQ 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 159710161 34732372 HARS-140034901 3.20e-03 2009.07.10 2009.07.10 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 160623308 34732372 HumanOmni1-Quad_v1-0_B_rs34732372-128_T_R_1513937650 3.20e-03 2009.08.06 2009.10.04 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 165928873 34732372 NA19240_36_chr5_140034901 3.20e-03 2009.09.30 2009.09.30 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 173592512 34732372 Human1M-Duov3_B_rs34732372-128_T_R_1513937650 3.20e-03 2009.10.04 2009.10.04 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 332841431 34732372 20100804_snps_4484967_chr5_140054717 3.20e-03 2011.03.22 2011.03.22 2006.03.14 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 342189966 34732372 ESP2500-chr5-140054717 3.20e-03 2011.03.26 2011.03.26 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 480785026 34732372 HumanOmni2.5-4v1_B_rs34732372-128_T_R_1696600731 3.20e-03 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 480800729 34732372 HumanOmniExpress-12v1_C_rs34732372-131_T_R_1857448301 3.20e-03 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 481707887 34732372 HumanOmni1-Quad_v1-0_C_rs34732372-131_T_R_1857448301 3.20e-03 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 485187231 34732372 HumanOmni2.5-4v1_D_rs34732372-131_T_R_1857448301 3.20e-03 2012.02.04 2012.02.04 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 490911568 34732372 20110521_exome_419366_chr5_140054717 3.20e-03 2012.02.21 2012.02.21 2006.03.14 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140054717G>A;NG_032158.1:g.21255C>T;NM_001258040.1:c.1076C>T;NM_001258041.1:c.1136C>T;NM_001258042.1:c.1016C>T;NM_002109.4:c.1196C>T;NP_001244969.1:p.Ala359Val;NP_001244970.1:p.Ala379Val;NP_001244971.1:p.Ala339Val;NP_002100.2:p.Ala399Val 491371632 34732372 splice_87859_chr_5_140054717 3.20e-03 2012.03.05 2012.03.05 2006.03.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054765A>C;NG_032158.1:g.21207T>G;NM_001258040.1:c.1075-47T>G;NM_001258041.1:c.1135-47T>G;NM_001258042.1:c.1015-47T>G;NM_002109.4:c.1195-47T>G 488815564 200507947 20110521_exome_83645_chr5_140054765 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054787C>T;NG_032158.1:g.21185G>A;NM_001258040.1:c.1075-69G>A;NM_001258041.1:c.1135-69G>A;NM_001258042.1:c.1015-69G>A;NM_002109.4:c.1195-69G>A 332841432 148935291 20100804_snps_4484968_chr5_140054787 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140054834C>G;NG_032158.1:g.21138G>C;NM_001258040.1:c.1075-116G>C;NM_001258041.1:c.1135-116G>C;NM_001258042.1:c.1015-116G>C;NM_002109.4:c.1195-116G>C 458427687 184400035 20101123_snps_4594917_chr5_140054834 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140054858G>T;NG_032158.1:g.21114C>A;NM_001258040.1:c.1075-140C>A;NM_001258041.1:c.1135-140C>A;NM_001258042.1:c.1015-140C>A;NM_002109.4:c.1195-140C>A 207027724 113627177 BCM_CMT_1011-1141641 9.20e-03 2010.03.18 2010.03.18 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054858G>T;NG_032158.1:g.21114C>A;NM_001258040.1:c.1075-140C>A;NM_001258041.1:c.1135-140C>A;NM_001258042.1:c.1015-140C>A;NM_002109.4:c.1195-140C>A 332841433 113627177 20100804_snps_4484969_chr5_140054858 9.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140054883T>C;NG_032158.1:g.21089A>G;NM_001258040.1:c.1075-165A>G;NM_001258041.1:c.1135-165A>G;NM_001258042.1:c.1015-165A>G;NM_002109.4:c.1195-165A>G 332841434 138300828 20100804_snps_4484970_chr5_140054883 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140054968C>T;NG_032158.1:g.21004G>A;NM_001258040.1:c.1075-250G>A;NM_001258041.1:c.1135-250G>A;NM_001258042.1:c.1015-250G>A;NM_002109.4:c.1195-250G>A 221997125 76496151 pilot_1_YRI_3806808_chr5_140035152 1.01e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054968C>T;NG_032158.1:g.21004G>A;NM_001258040.1:c.1075-250G>A;NM_001258041.1:c.1135-250G>A;NM_001258042.1:c.1015-250G>A;NM_002109.4:c.1195-250G>A 482658579 76496151 HumanOmni2.5-4v1_D_kgp22752011-0_B_F_1860476856 1.01e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140054968C>T;NG_032158.1:g.21004G>A;NM_001258040.1:c.1075-250G>A;NM_001258041.1:c.1135-250G>A;NM_001258042.1:c.1015-250G>A;NM_002109.4:c.1195-250G>A 484946092 76496151 HumanOmni2.5-4v1_B_SNP5-140035152-0_B_F_1640927863 1.01e-02 2012.02.04 2012.02.04 2009.12.01 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140055007T>G;NG_032158.1:g.20965A>C;NM_001258040.1:c.1075-289A>C;NM_001258041.1:c.1135-289A>C;NM_001258042.1:c.1015-289A>C;NM_002109.4:c.1195-289A>C 143484001 77154058 ENSSNP12926686 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055015G>A;NG_032158.1:g.20957C>T;NM_001258040.1:c.1075-297C>T;NM_001258041.1:c.1135-297C>T;NM_001258042.1:c.1015-297C>T;NM_002109.4:c.1195-297C>T 332841435 142880704 20100804_snps_4484971_chr5_140055015 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055042G>A;NG_032158.1:g.20930C>T;NM_001258040.1:c.1075-324C>T;NM_001258041.1:c.1135-324C>T;NM_001258042.1:c.1015-324C>T;NM_002109.4:c.1195-324C>T 332841436 145446993 20100804_snps_4484972_chr5_140055042 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055069C>T;NG_032158.1:g.20903G>A;NM_001258040.1:c.1075-351G>A;NM_001258041.1:c.1135-351G>A;NM_001258042.1:c.1015-351G>A;NM_002109.4:c.1195-351G>A 332841437 138067637 20100804_snps_4484973_chr5_140055069 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055136delT;NG_032158.1:g.20836delA;NM_001258040.1:c.1075-418delA;NM_001258041.1:c.1135-418delA;NM_001258042.1:c.1015-418delA;NM_002109.4:c.1195-418delA 499287392 199532193 20110316_indels_chr5_140055135_140055135 1.42e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 15215308 11336085 INDEL_GP34_WGS_336595 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 42488419 11336085 hCV11840473 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ABI 3035 NC_000005.9:g.140055139_140055140insA;NG_032158.1:g.20832_20833insT;NM_001258040.1:c.1075-422_1075-421insT;NM_001258041.1:c.1135-422_1135-421insT;NM_001258042.1:c.1015-422_1015-421insT;NM_002109.4:c.1195-422_1195-421insT 42511740 35609344 hCV32959348 2005.07.18 2005.07.18 2006.03.15 2012.05.11 137 HGSV 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 78013767 11336085 Cor12156_DIV_20070510.chr5_140035336-140035338_1 2007.10.16 2007.10.16 2004.02.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140055139_140055140insA;NG_032158.1:g.20832_20833insT;NM_001258040.1:c.1075-422_1075-421insT;NM_001258041.1:c.1135-422_1135-421insT;NM_001258042.1:c.1015-422_1015-421insT;NM_002109.4:c.1195-422_1195-421insT 80861123 35609344 Cor12878_DIV_20070510.chr5_140035337-140035338_1 2007.11.27 2007.11.27 2006.03.15 2012.05.11 137 BCMHGSC_JDW 3035 NC_000005.9:g.140055139A>T;NG_032158.1:g.20833T>A;NM_001258040.1:c.1075-421T>A;NM_001258041.1:c.1135-421T>A;NM_001258042.1:c.1015-421T>A;NM_002109.4:c.1195-421T>A 93269113 63429961 JWB-2047123 2008.03.04 2008.03.04 2008.03.24 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 102393189 11336085 INDEL_GP36_2008a_2886633_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 102452896 11336085 INDEL_GP36_2008a_1716749_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140055139A>T;NG_032158.1:g.20833T>A;NM_001258040.1:c.1075-421T>A;NM_001258041.1:c.1135-421T>A;NM_001258042.1:c.1015-421T>A;NM_002109.4:c.1195-421T>A 278502588 63429961 GMI_AK_SNP_2822827 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 GMI 3035 NC_000005.9:g.140055139delA;NG_032158.1:g.20833delT;NM_001258040.1:c.1075-421delT;NM_001258041.1:c.1135-421delT;NM_001258042.1:c.1015-421delT;NM_002109.4:c.1195-421delT 288661739 11336085 GMI_AK_INDEL_404092 2010.12.23 2011.12.25 2004.02.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140055153A>T;NG_032158.1:g.20819T>A;NM_001258040.1:c.1075-435T>A;NM_001258041.1:c.1135-435T>A;NM_001258042.1:c.1015-435T>A;NM_002109.4:c.1195-435T>A 116832963 73791747 NA18507_000175736_NCBI36.1_chr5_140035337 variation has been flagged as failed by submitter 2009.01.18 2009.01.18 2009.02.14 2011.07.08 137 BL 3035 NC_000005.9:g.140055153A>T;NG_032158.1:g.20819T>A;NM_001258040.1:c.1075-435T>A;NM_001258041.1:c.1135-435T>A;NM_001258042.1:c.1015-435T>A;NM_002109.4:c.1195-435T>A 253846396 73791747 SNP140202_5_140035337 variation has been flagged as failed by submitter 2010.08.19 2010.08.19 2009.02.14 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140055187T>A;NG_032158.1:g.20785A>T;NM_001258040.1:c.1075-469A>T;NM_001258041.1:c.1135-469A>T;NM_001258042.1:c.1015-469A>T;NM_002109.4:c.1195-469A>T 210622419 116203404 CEU.trio.3.2010_58329_chr5_140035371 2010.03.29 2010.03.29 2010.07.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055247A>C;NG_032158.1:g.20725T>G;NM_001258040.1:c.1075-529T>G;NM_001258041.1:c.1135-529T>G;NM_001258042.1:c.1015-529T>G;NM_002109.4:c.1195-529T>G 332841438 141765732 20100804_snps_4484974_chr5_140055247 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055526G>A;NG_032158.1:g.20446C>T;NM_001258040.1:c.1074+713C>T;NM_001258041.1:c.1134+713C>T;NM_001258042.1:c.1014+713C>T;NM_002109.4:c.1194+713C>T 458427688 188839103 20101123_snps_4594918_chr5_140055526 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 3035 NC_000005.9:g.140055645C>T;NG_032158.1:g.20327G>A;NM_001258040.1:c.1074+594G>A;NM_001258041.1:c.1134+594G>A;NM_001258042.1:c.1014+594G>A;NM_002109.4:c.1194+594G>A 116832964 73791748 NA18507_000175737_NCBI36.1_chr5_140035829 6.40e-03 2009.01.18 2009.01.18 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140055645C>T;NG_032158.1:g.20327G>A;NM_001258040.1:c.1074+594G>A;NM_001258041.1:c.1134+594G>A;NM_001258042.1:c.1014+594G>A;NM_002109.4:c.1194+594G>A 211724309 73791748 YRI.trio.3.2010_551328_chr5_140035829 6.40e-03 2010.03.30 2010.03.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140055645C>T;NG_032158.1:g.20327G>A;NM_001258040.1:c.1074+594G>A;NM_001258041.1:c.1134+594G>A;NM_001258042.1:c.1014+594G>A;NM_002109.4:c.1194+594G>A 221997128 73791748 pilot_1_YRI_3806811_chr5_140035829 6.40e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140055784G>A;NG_032158.1:g.20188C>T;NM_001258040.1:c.1074+455C>T;NM_001258041.1:c.1134+455C>T;NM_001258042.1:c.1014+455C>T;NM_002109.4:c.1194+455C>T 332841439 150589670 20100804_snps_4484975_chr5_140055784 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140055833A>T;NG_032158.1:g.20139T>A;NM_001258040.1:c.1074+406T>A;NM_001258041.1:c.1134+406T>A;NM_001258042.1:c.1014+406T>A;NM_002109.4:c.1194+406T>A 233171034 77585983 pilot_1_CEU_2775663_chr5_140036017 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140056147delC;NG_032158.1:g.19825delG;NM_001258040.1:c.1074+92delG;NM_001258041.1:c.1134+92delG;NM_001258042.1:c.1014+92delG;NM_002109.4:c.1194+92delG 15224064 11344157 INDEL_GP34_WGS_348267 1.79e-02 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056147delC;NG_032158.1:g.19825delG;NM_001258040.1:c.1074+92delG;NM_001258041.1:c.1134+92delG;NM_001258042.1:c.1014+92delG;NM_002109.4:c.1194+92delG 326998932 11344157 YRI_chr5_140036330_indel 1.79e-02 2011.03.12 2011.04.02 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056147delC;NG_032158.1:g.19825delG;NM_001258040.1:c.1074+92delG;NM_001258041.1:c.1134+92delG;NM_001258042.1:c.1014+92delG;NM_002109.4:c.1194+92delG 499287396 11344157 20110316_indels_chr5_140056146_140056146 1.79e-02 2012.03.19 2012.03.19 2004.02.28 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140056226T>C;NG_032158.1:g.19746A>G;NM_001258040.1:c.1074+13A>G;NM_001258041.1:c.1134+13A>G;NM_001258042.1:c.1014+13A>G;NM_002109.4:c.1194+13A>G 491873365 201733468 SNV-chr5-140036410 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140056233_140056234insC;NG_032158.1:g.19738_19739insG;NM_001258040.1:c.1074+5_1074+6insG;NM_001258041.1:c.1134+5_1134+6insG;NM_001258042.1:c.1014+5_1014+6insG;NM_002109.4:c.1194+5_1194+6insG 8139324 5871749 INDEL_GP31_127973 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140056234_140056235insC;NC_000005.9:g.140056234_140056235insT;NG_032158.1:g.19737_19738insA;NG_032158.1:g.19737_19738insG;NM_001258040.1:c.1074+4_1074+5insA;NM_001258040.1:c.1074+4_1074+5insG;NM_001258041.1:c.1134+4_1134+5insA;NM_001258041.1:c.1134+4_1134+5insG;NM_001258042.1:c.1014+4_1014+5insA;NM_001258042.1:c.1014+4_1014+5insG;NM_002109.4:c.1194+4_1194+5insA;NM_002109.4:c.1194+4_1194+5insG 49966287 34291233 INDEL_GP35_TSC_173142 2006.01.23 2006.01.23 2006.03.13 2012.05.16 137 DEVINE_LAB 3035 NC_000005.9:g.140056234_140056235insC;NC_000005.9:g.140056234_140056235insT;NG_032158.1:g.19737_19738insA;NG_032158.1:g.19737_19738insG;NM_001258040.1:c.1074+4_1074+5insA;NM_001258040.1:c.1074+4_1074+5insG;NM_001258041.1:c.1134+4_1134+5insA;NM_001258041.1:c.1134+4_1134+5insG;NM_001258042.1:c.1014+4_1014+5insA;NM_001258042.1:c.1014+4_1014+5insG;NM_002109.4:c.1194+4_1194+5insA;NM_002109.4:c.1194+4_1194+5insG 94651599 34291233 INDEL_GP36_2008a_186573_1 2008.03.07 2008.05.16 2006.03.13 2012.05.16 137 DEVINE_LAB 3035 NC_000005.9:g.140056234_140056235insC;NC_000005.9:g.140056234_140056235insT;NG_032158.1:g.19737_19738insA;NG_032158.1:g.19737_19738insG;NM_001258040.1:c.1074+4_1074+5insA;NM_001258040.1:c.1074+4_1074+5insG;NM_001258041.1:c.1134+4_1134+5insA;NM_001258041.1:c.1134+4_1134+5insG;NM_001258042.1:c.1014+4_1014+5insA;NM_001258042.1:c.1014+4_1014+5insG;NM_002109.4:c.1194+4_1194+5insA;NM_002109.4:c.1194+4_1194+5insG 99864218 34291233 INDEL_GP36_2007a_2942016_0 2008.05.06 2008.05.06 2006.03.13 2012.05.16 137 DEVINE_LAB 3035 NC_000005.9:g.140056234_140056235insC;NC_000005.9:g.140056234_140056235insT;NG_032158.1:g.19737_19738insA;NG_032158.1:g.19737_19738insG;NM_001258040.1:c.1074+4_1074+5insA;NM_001258040.1:c.1074+4_1074+5insG;NM_001258041.1:c.1134+4_1134+5insA;NM_001258041.1:c.1134+4_1134+5insG;NM_001258042.1:c.1014+4_1014+5insA;NM_001258042.1:c.1014+4_1014+5insG;NM_002109.4:c.1194+4_1194+5insA;NM_002109.4:c.1194+4_1194+5insG 100790031 34291233 INDEL_GP36_2008a_2942016_1 2008.05.17 2008.05.17 2006.03.13 2012.05.16 137 1000GENOMES 3035 NC_000005.9:g.140056256C>T;NG_032158.1:g.19716G>A;NM_001258040.1:c.1057G>A;NM_001258041.1:c.1117G>A;NM_001258042.1:c.997G>A;NM_002109.4:c.1177G>A;NP_001244969.1:p.Val353Met;NP_001244970.1:p.Val373Met;NP_001244971.1:p.Val333Met;NP_002100.2:p.Val393Met 458427689 192923161 20101123_snps_4594919_chr5_140056256 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056256C>T;NG_032158.1:g.19716G>A;NM_001258040.1:c.1057G>A;NM_001258041.1:c.1117G>A;NM_001258042.1:c.997G>A;NM_002109.4:c.1177G>A;NP_001244969.1:p.Val353Met;NP_001244970.1:p.Val373Met;NP_001244971.1:p.Val333Met;NP_002100.2:p.Val393Met 490911569 192923161 20110521_exome_419367_chr5_140056256 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056306T>C;NG_032158.1:g.19666A>G;NM_001258040.1:c.1007A>G;NM_001258041.1:c.1067A>G;NM_001258042.1:c.947A>G;NM_002109.4:c.1127A>G;NP_001244969.1:p.Lys336Arg;NP_001244970.1:p.Lys356Arg;NP_001244971.1:p.Lys316Arg;NP_002100.2:p.Lys376Arg 332841440 139447495 20100804_snps_4484976_chr5_140056306 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140056306T>C;NG_032158.1:g.19666A>G;NM_001258040.1:c.1007A>G;NM_001258041.1:c.1067A>G;NM_001258042.1:c.947A>G;NM_002109.4:c.1127A>G;NP_001244969.1:p.Lys336Arg;NP_001244970.1:p.Lys356Arg;NP_001244971.1:p.Lys316Arg;NP_002100.2:p.Lys376Arg 342189967 139447495 ESP2500-chr5-140056306 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056306T>C;NG_032158.1:g.19666A>G;NM_001258040.1:c.1007A>G;NM_001258041.1:c.1067A>G;NM_001258042.1:c.947A>G;NM_002109.4:c.1127A>G;NP_001244969.1:p.Lys336Arg;NP_001244970.1:p.Lys356Arg;NP_001244971.1:p.Lys316Arg;NP_002100.2:p.Lys376Arg 490911570 139447495 20110521_exome_419368_chr5_140056306 1.40e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140056306T>C;NG_032158.1:g.19666A>G;NM_001258040.1:c.1007A>G;NM_001258041.1:c.1067A>G;NM_001258042.1:c.947A>G;NM_002109.4:c.1127A>G;NP_001244969.1:p.Lys336Arg;NP_001244970.1:p.Lys356Arg;NP_001244971.1:p.Lys316Arg;NP_002100.2:p.Lys376Arg 491371633 139447495 nonsyn_87860_chr_5_140056306 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140056309C>T;NG_032158.1:g.19663G>A;NM_001258040.1:c.1004G>A;NM_001258041.1:c.1064G>A;NM_001258042.1:c.944G>A;NM_002109.4:c.1124G>A;NP_001244969.1:p.Arg335His;NP_001244970.1:p.Arg355His;NP_001244971.1:p.Arg315His;NP_002100.2:p.Arg375His 342189968 151258227 ESP2500-chr5-140056309 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CGAP-GAI 3035 NC_000005.9:g.140056332C>G;NG_032158.1:g.19640G>C;NM_001258040.1:c.981G>C;NM_001258041.1:c.1041G>C;NM_001258042.1:c.921G>C;NM_002109.4:c.1101G>C;NP_001244969.1:p.Val327=;NP_001244970.1:p.Val347=;NP_001244971.1:p.Val307=;NP_002100.2:p.Val367= 16246767 11548124 1491535 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140056347G>A;NG_032158.1:g.19625C>T;NM_001258040.1:c.966C>T;NM_001258041.1:c.1026C>T;NM_001258042.1:c.906C>T;NM_002109.4:c.1086C>T;NP_001244969.1:p.Arg322=;NP_001244970.1:p.Arg342=;NP_001244971.1:p.Arg302=;NP_002100.2:p.Arg362= 342189969 139251223 ESP2500-chr5-140056347 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140056366C>T;NG_032158.1:g.19606G>A;NM_001258040.1:c.947G>A;NM_001258041.1:c.1007G>A;NM_001258042.1:c.887G>A;NM_002109.4:c.1067G>A;NP_001244969.1:p.Ser316Asn;NP_001244970.1:p.Ser336Asn;NP_001244971.1:p.Ser296Asn;NP_002100.2:p.Ser356Asn 342189970 144322728 ESP2500-chr5-140056366 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140056402G>T;NG_032158.1:g.19570C>A;NM_001258040.1:c.911C>A;NM_001258041.1:c.971C>A;NM_001258042.1:c.851C>A;NM_002109.4:c.1031C>A;NP_001244969.1:p.Pro304Gln;NP_001244970.1:p.Pro324Gln;NP_001244971.1:p.Pro284Gln;NP_002100.2:p.Pro344Gln 342189971 146571500 ESP2500-chr5-140056402 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140056455T>C;NG_032158.1:g.19517A>G;NM_001258040.1:c.858A>G;NM_001258041.1:c.918A>G;NM_001258042.1:c.798A>G;NM_002109.4:c.978A>G;NP_001244969.1:p.Arg286=;NP_001244970.1:p.Arg306=;NP_001244971.1:p.Arg266=;NP_002100.2:p.Arg326= 342189972 141285041 ESP2500-chr5-140056455 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140056504A>G;NG_032158.1:g.19468T>C;NM_001258040.1:c.832-23T>C;NM_001258041.1:c.892-23T>C;NM_001258042.1:c.772-23T>C;NM_002109.4:c.952-23T>C 488815566 200151259 20110521_exome_83646_chr5_140056504 1.80e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140056504A>G;NG_032158.1:g.19468T>C;NM_001258040.1:c.832-23T>C;NM_001258041.1:c.892-23T>C;NM_001258042.1:c.772-23T>C;NM_002109.4:c.952-23T>C 491873366 200151259 SNV-chr5-140036688 1.80e-03 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 113346471 73271581 NA19240_2008_12_16_1234883_chr5_140036739 3.02e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 165928876 73271581 NA19240_36_chr5_140036739 3.02e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 221997129 73271581 pilot_1_YRI_3806812_chr5_140036739 3.02e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 482570495 73271581 HumanOmni2.5-4v1_D_kgp22628033-0_T_R_1841154670 3.02e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 484946093 73271581 HumanOmni2.5-4v1_B_SNP5-140036739-0_T_R_1638152397 3.02e-02 2012.02.04 2012.02.04 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 490911571 73271581 20110521_exome_419369_chr5_140056555 3.02e-02 2012.02.21 2012.02.21 2009.02.14 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140056555C>T;NG_032158.1:g.19417G>A;NM_001258040.1:c.831+19G>A;NM_001258041.1:c.891+19G>A;NM_001258042.1:c.771+19G>A;NM_002109.4:c.951+19G>A 491873367 73271581 SNV-chr5-140036739 3.02e-02 2012.03.07 2012.03.13 2009.02.14 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140056618T>G;NG_032158.1:g.19354A>C;NM_001258040.1:c.787A>C;NM_001258041.1:c.847A>C;NM_001258042.1:c.727A>C;NM_002109.4:c.907A>C;NP_001244969.1:p.Lys263Gln;NP_001244970.1:p.Lys283Gln;NP_001244971.1:p.Lys243Gln;NP_002100.2:p.Lys303Gln 342189973 145112012 ESP2500-chr5-140056618 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140056622G>A;NG_032158.1:g.19350C>T;NM_001258040.1:c.783C>T;NM_001258041.1:c.843C>T;NM_001258042.1:c.723C>T;NM_002109.4:c.903C>T;NP_001244969.1:p.Asp261=;NP_001244970.1:p.Asp281=;NP_001244971.1:p.Asp241=;NP_002100.2:p.Asp301= 342189974 146835587 ESP2500-chr5-140056622 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 LEE 3035 NC_000005.9:g.140056630G>A;NG_032158.1:g.19342C>T;NM_001258040.1:c.775C>T;NM_001258041.1:c.835C>T;NM_001258042.1:c.715C>T;NM_002109.4:c.895C>T;NP_001244969.1:p.Leu259=;NP_001244970.1:p.Leu279=;NP_001244971.1:p.Leu239=;NP_002100.2:p.Leu299= 1524712 1050245 397069 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140056673G>A;NG_032158.1:g.19299C>T;NM_001258040.1:c.732C>T;NM_001258041.1:c.792C>T;NM_001258042.1:c.672C>T;NM_002109.4:c.852C>T;NP_001244969.1:p.Leu244=;NP_001244970.1:p.Leu264=;NP_001244971.1:p.Leu224=;NP_002100.2:p.Leu284= 488815568 202034204 20110521_exome_83647_chr5_140056673 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140056675G>C;NG_032158.1:g.19297C>G;NM_001258040.1:c.730C>G;NM_001258041.1:c.790C>G;NM_001258042.1:c.670C>G;NM_002109.4:c.850C>G;NP_001244969.1:p.Leu244Val;NP_001244970.1:p.Leu264Val;NP_001244971.1:p.Leu224Val;NP_002100.2:p.Leu284Val 1524713 1050246 397079 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 3035 NC_000005.9:g.140056679C>T;NG_032158.1:g.19293G>A;NM_001258040.1:c.726G>A;NM_001258041.1:c.786G>A;NM_001258042.1:c.666G>A;NM_002109.4:c.846G>A;NP_001244969.1:p.Gln242=;NP_001244970.1:p.Gln262=;NP_001244971.1:p.Gln222=;NP_002100.2:p.Gln282= 1524714 1131032 397086 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 CSHL-HAPMAP 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 17847953 11954514 CSHL-HuCC-200402.chr5.NT_029289.10_1219702 5.95e-02 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 24621802 11954514 afd3320220 5.95e-02 2004.08.21 2004.09.13 2004.02.28 2012.11.28 137 ABI 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 44678632 11954514 hCV3279670 5.95e-02 2005.07.19 2006.11.03 2004.02.28 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 68951414 11954514 PGP03320220 5.95e-02 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 75061643 11954514 ILMN_Human_1M_rs11954514 5.95e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 76852242 11954514 AFFY_6_1M_SNP_A-8713748 5.95e-02 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 109460706 11954514 CEU.trio.12.15.2008_1374518_chr5_140036959 5.95e-02 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 119734742 11954514 KHS1825962 5.95e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 160020542 11954514 HumanOmni1-Quad_v1-0_B_rs11954514-128_T_F_1514026094 5.95e-02 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 167145628 11954514 NA20431_36_chr5_140036959 5.95e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 171746593 11954514 Human1M-Duov3_B_rs11954514-128_T_F_1514026094 5.95e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 233171035 11954514 pilot_1_CEU_2775664_chr5_140036959 5.95e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 410896730 11954514 Cardio-Metabo_Chip_11395247_A_rs11954514 5.95e-02 2011.06.07 2011.06.07 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 479636961 11954514 HumanOmni2.5-4v1_B_rs11954514-128_T_F_1731865199 5.95e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 479642223 11954514 HumanOmniExpress-12v1_C_rs11954514-131_T_F_1858938654 5.95e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 480148007 11954514 HumanOmni1-Quad_v1-0_C_rs11954514-131_T_F_1858938654 5.95e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140056775A>C;NG_032158.1:g.19197T>G;NM_001258040.1:c.704-74T>G;NM_001258041.1:c.764-74T>G;NM_001258042.1:c.644-74T>G;NM_002109.4:c.824-74T>G 484617167 11954514 HumanOmni2.5-4v1_D_rs11954514-131_T_F_1858938654 5.95e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056783C>T;NG_032158.1:g.19189G>A;NM_001258040.1:c.704-82G>A;NM_001258041.1:c.764-82G>A;NM_001258042.1:c.644-82G>A;NM_002109.4:c.824-82G>A 458427690 184591417 20101123_snps_4594920_chr5_140056783 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140056874T>C;NG_032158.1:g.19098A>G;NM_001258040.1:c.703+38A>G;NM_001258041.1:c.763+38A>G;NM_001258042.1:c.643+38A>G;NM_002109.4:c.823+38A>G 332841441 149241235 20100804_snps_4484977_chr5_140056874 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140056874T>C;NG_032158.1:g.19098A>G;NM_001258040.1:c.703+38A>G;NM_001258041.1:c.763+38A>G;NM_001258042.1:c.643+38A>G;NM_002109.4:c.823+38A>G 490911572 149241235 20110521_exome_419370_chr5_140056874 1.40e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140056924C>T;NG_032158.1:g.19048G>A;NM_001258040.1:c.691G>A;NM_001258041.1:c.751G>A;NM_001258042.1:c.631G>A;NM_002109.4:c.811G>A;NP_001244969.1:p.Val231Ile;NP_001244970.1:p.Val251Ile;NP_001244971.1:p.Val211Ile;NP_002100.2:p.Val271Ile 342189975 149018062 ESP2500-chr5-140056924 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 3035 NC_000005.9:g.140056925A>G;NG_032158.1:g.19047T>C;NM_001258040.1:c.690T>C;NM_001258041.1:c.750T>C;NM_001258042.1:c.630T>C;NM_002109.4:c.810T>C;NP_001244969.1:p.Tyr230=;NP_001244970.1:p.Tyr250=;NP_001244971.1:p.Tyr210=;NP_002100.2:p.Tyr270= 491873368 201511773 SNV-chr5-140037109 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140056940G>A;NG_032158.1:g.19032C>T;NM_001258040.1:c.675C>T;NM_001258041.1:c.735C>T;NM_001258042.1:c.615C>T;NM_002109.4:c.795C>T;NP_001244969.1:p.Asp225=;NP_001244970.1:p.Asp245=;NP_001244971.1:p.Asp205=;NP_002100.2:p.Asp265= 1524715 1050247 397099 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 3035 NC_000005.9:g.140056952A>G;NC_000005.9:g.140056952A>T;NG_032158.1:g.19020T>A;NG_032158.1:g.19020T>C;NM_001258040.1:c.663T>A;NM_001258040.1:c.663T>C;NM_001258041.1:c.723T>A;NM_001258041.1:c.723T>C;NM_001258042.1:c.603T>A;NM_001258042.1:c.603T>C;NM_002109.4:c.783T>A;NM_002109.4:c.783T>C;NP_001244969.1:p.Pro221=;NP_001244970.1:p.Pro241=;NP_001244971.1:p.Pro201=;NP_002100.2:p.Pro261= 1524716 1050248 397110 2000.09.13 2003.10.10 2000.10.05 2012.05.16 137 NHLBI-ESP 3035 NC_000005.9:g.140056952A>G;NC_000005.9:g.140056952A>T;NG_032158.1:g.19020T>A;NG_032158.1:g.19020T>C;NM_001258040.1:c.663T>A;NM_001258040.1:c.663T>C;NM_001258041.1:c.723T>A;NM_001258041.1:c.723T>C;NM_001258042.1:c.603T>A;NM_001258042.1:c.603T>C;NM_002109.4:c.783T>A;NM_002109.4:c.783T>C;NP_001244969.1:p.Pro221=;NP_001244970.1:p.Pro241=;NP_001244971.1:p.Pro201=;NP_002100.2:p.Pro261= 342189976 1050248 ESP2500-chr5-140056952 2011.03.26 2011.03.26 2000.10.05 2012.05.16 137 LEE 3035 NC_000005.9:g.140056988C>T;NG_032158.1:g.18984G>A;NM_001258040.1:c.627G>A;NM_001258041.1:c.687G>A;NM_001258042.1:c.567G>A;NM_002109.4:c.747G>A;NP_001244969.1:p.Val209=;NP_001244970.1:p.Val229=;NP_001244971.1:p.Val189=;NP_002100.2:p.Val249= 1524717 1131033 397123 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140056994T>C;NG_032158.1:g.18978A>G;NM_001258040.1:c.621A>G;NM_001258041.1:c.681A>G;NM_001258042.1:c.561A>G;NM_002109.4:c.741A>G;NP_001244969.1:p.Glu207=;NP_001244970.1:p.Glu227=;NP_001244971.1:p.Glu187=;NP_002100.2:p.Glu247= 1524718 1131034 397135 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 BUSHMAN 3035 NC_000005.9:g.140057003C>A;NG_032158.1:g.18969G>T;NM_001258040.1:c.612G>T;NM_001258041.1:c.672G>T;NM_001258042.1:c.552G>T;NM_002109.4:c.732G>T;NP_001244969.1:p.Val204=;NP_001244970.1:p.Val224=;NP_001244971.1:p.Val184=;NP_002100.2:p.Val244= 200937193 113713558 BUSHMAN-chr5-140037186 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140057022C>T;NG_032158.1:g.18950G>A;NM_001258040.1:c.610-17G>A;NM_001258041.1:c.670-17G>A;NM_001258042.1:c.550-17G>A;NM_002109.4:c.730-17G>A 458427691 189624055 20101123_snps_4594921_chr5_140057022 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057022C>T;NG_032158.1:g.18950G>A;NM_001258040.1:c.610-17G>A;NM_001258041.1:c.670-17G>A;NM_001258042.1:c.550-17G>A;NM_002109.4:c.730-17G>A 490911573 189624055 20110521_exome_419371_chr5_140057022 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057027A>G;NG_032158.1:g.18945T>C;NM_001258040.1:c.610-22T>C;NM_001258041.1:c.670-22T>C;NM_001258042.1:c.550-22T>C;NM_002109.4:c.730-22T>C 332841442 144457474 20100804_snps_4484978_chr5_140057027 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057027A>G;NG_032158.1:g.18945T>C;NM_001258040.1:c.610-22T>C;NM_001258041.1:c.670-22T>C;NM_001258042.1:c.550-22T>C;NM_002109.4:c.730-22T>C 490911574 144457474 20110521_exome_419372_chr5_140057027 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057085G>A;NG_032158.1:g.18887C>T;NM_001258040.1:c.610-80C>T;NM_001258041.1:c.670-80C>T;NM_001258042.1:c.550-80C>T;NM_002109.4:c.730-80C>T 458427692 180848617 20101123_snps_4594922_chr5_140057085 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140057200G>A;NG_032158.1:g.18772C>T;NM_001258040.1:c.609+40C>T;NM_001258041.1:c.669+40C>T;NM_001258042.1:c.549+40C>T;NM_002109.4:c.729+40C>T 332841443 139555499 20100804_snps_4484979_chr5_140057200 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057200G>A;NG_032158.1:g.18772C>T;NM_001258040.1:c.609+40C>T;NM_001258041.1:c.669+40C>T;NM_001258042.1:c.549+40C>T;NM_002109.4:c.729+40C>T 490911575 139555499 20110521_exome_419373_chr5_140057200 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 KWOK 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 1059105 811382 OVLP-000804-190262 1.80e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 3598340 811382 AC010687.6_216484 1.80e-01 2001.09.24 2004.05.16 2000.10.05 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 6790154 811382 NT_029289.7_1181548 1.80e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 66693663 811382 HumanHap300v1.1_rs811382 1.80e-01 2006.11.09 2006.11.09 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 67873328 811382 HumanHap550v1.1_rs811382 1.80e-01 2006.11.14 2006.11.14 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 68017447 811382 HumanHap650Yv1.0_rs811382 1.80e-01 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 70971293 811382 HumanHap550v3.0__rs811382 1.80e-01 2007.04.20 2008.03.31 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 71582074 811382 HumanHap650Yv3.0_rs811382 1.80e-01 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 75593516 811382 ILMN_Human_1M_rs811382 1.80e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 79281946 811382 HumanHap300v2.0_rs811382 1.80e-01 2007.11.18 2007.11.18 2000.10.05 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 83569607 811382 KHS492074 1.80e-01 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 109460710 811382 CEU.trio.12.15.2008_1374519_chr5_140037400 1.80e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 116832965 811382 NA18507_000175738_NCBI36.1_chr5_140037400 1.80e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 122905608 811382 HumanCNV370v1_C_rs811382 1.80e-01 2009.04.15 2009.04.15 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 154470003 811382 Human610_Quadv1_B_rs811382-128_B_F_1501876074 1.80e-01 2009.06.20 2009.06.20 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 156094108 811382 GMI_SNP_93837840 1.80e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 159644511 811382 Human660W-Quad_v1_A_rs811382-128_B_F_1501876074 1.80e-01 2009.07.07 2009.07.07 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 172400610 811382 HumanCNV370-Quadv3_C_rs811382-128_B_F_1501876074 1.80e-01 2009.10.02 2009.10.04 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 174724417 811382 Human1M-Duov3_B_rs811382-128_B_F_1501876074 1.80e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 200937197 811382 BUSHMAN-chr5-140037399 1.80e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 207153786 811382 BCM_CMT_1011-1183555 1.80e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 221997130 811382 pilot_1_YRI_3806813_chr5_140037400 1.80e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 233171036 811382 pilot_1_CEU_2775665_chr5_140037400 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 240287732 811382 pilot_1_CHB+JPT_2172809_chr5_140037400 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 278502589 811382 GMI_AK_SNP_2822828 1.80e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 490911576 811382 20110521_exome_419374_chr5_140057216 1.80e-01 2012.02.21 2012.02.21 2000.10.05 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140057216G>A;NG_032158.1:g.18756C>T;NM_001258040.1:c.609+24C>T;NM_001258041.1:c.669+24C>T;NM_001258042.1:c.549+24C>T;NM_002109.4:c.729+24C>T 491873369 811382 SNV-chr5-140037400 1.80e-01 2012.03.07 2012.03.13 2000.10.05 2012.11.28 137 LEE 3035 NC_000005.9:g.140057243G>A;NG_032158.1:g.18729C>T;NM_001258040.1:c.606C>T;NM_001258041.1:c.666C>T;NM_001258042.1:c.546C>T;NM_002109.4:c.726C>T;NP_001244969.1:p.Asp202=;NP_001244970.1:p.Asp222=;NP_001244971.1:p.Asp182=;NP_002100.2:p.Asp242= 1524719 1131035 397154 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140057246C>T;NG_032158.1:g.18726G>A;NM_001258040.1:c.603G>A;NM_001258041.1:c.663G>A;NM_001258042.1:c.543G>A;NM_002109.4:c.723G>A;NP_001244969.1:p.Leu201=;NP_001244970.1:p.Leu221=;NP_001244971.1:p.Leu181=;NP_002100.2:p.Leu241= 1524720 1131036 397158 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140057248G>A;NG_032158.1:g.18724C>T;NM_001258040.1:c.601C>T;NM_001258041.1:c.661C>T;NM_001258042.1:c.541C>T;NM_002109.4:c.721C>T;NP_001244969.1:p.Leu201=;NP_001244970.1:p.Leu221=;NP_001244971.1:p.Leu181=;NP_002100.2:p.Leu241= 488815570 200978292 20110521_exome_83648_chr5_140057248 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140057255T>C;NG_032158.1:g.18717A>G;NM_001258040.1:c.594A>G;NM_001258041.1:c.654A>G;NM_001258042.1:c.534A>G;NM_002109.4:c.714A>G;NP_001244969.1:p.Val198=;NP_001244970.1:p.Val218=;NP_001244971.1:p.Val178=;NP_002100.2:p.Val238= 1524721 1131037 397170 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140057275G>A;NG_032158.1:g.18697C>T;NM_001258040.1:c.574C>T;NM_001258041.1:c.634C>T;NM_001258042.1:c.514C>T;NM_002109.4:c.694C>T;NP_001244969.1:p.Arg192Cys;NP_001244970.1:p.Arg212Cys;NP_001244971.1:p.Arg172Cys;NP_002100.2:p.Arg232Cys 458427693 186526524 20101123_snps_4594923_chr5_140057275 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057275G>A;NG_032158.1:g.18697C>T;NM_001258040.1:c.574C>T;NM_001258041.1:c.634C>T;NM_001258042.1:c.514C>T;NM_002109.4:c.694C>T;NP_001244969.1:p.Arg192Cys;NP_001244970.1:p.Arg212Cys;NP_001244971.1:p.Arg172Cys;NP_002100.2:p.Arg232Cys 490911577 186526524 20110521_exome_419375_chr5_140057275 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140057275G>A;NG_032158.1:g.18697C>T;NM_001258040.1:c.574C>T;NM_001258041.1:c.634C>T;NM_001258042.1:c.514C>T;NM_002109.4:c.694C>T;NP_001244969.1:p.Arg192Cys;NP_001244970.1:p.Arg212Cys;NP_001244971.1:p.Arg172Cys;NP_002100.2:p.Arg232Cys 491371634 186526524 nonsyn_87861_chr_5_140057275 5.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 LEE 3035 NC_000005.9:g.140057285G>A;NG_032158.1:g.18687C>T;NM_001258040.1:c.564C>T;NM_001258041.1:c.624C>T;NM_001258042.1:c.504C>T;NM_002109.4:c.684C>T;NP_001244969.1:p.Asp188=;NP_001244970.1:p.Asp208=;NP_001244971.1:p.Asp168=;NP_002100.2:p.Asp228= 1524722 1050249 397183 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 3035 NC_000005.9:g.140057302T>C;NG_032158.1:g.18670A>G;NM_001258040.1:c.547A>G;NM_001258041.1:c.607A>G;NM_001258042.1:c.487A>G;NM_002109.4:c.667A>G;NP_001244969.1:p.Ile183Val;NP_001244970.1:p.Ile203Val;NP_001244971.1:p.Ile163Val;NP_002100.2:p.Ile223Val 1524724 1050250 397191 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 LEE 3035 NC_000005.9:g.140057327T>C;NG_032158.1:g.18645A>G;NM_001258040.1:c.522A>G;NM_001258041.1:c.582A>G;NM_001258042.1:c.462A>G;NM_002109.4:c.642A>G;NP_001244969.1:p.Arg174=;NP_001244970.1:p.Arg194=;NP_001244971.1:p.Arg154=;NP_002100.2:p.Arg214= 1524725 1131038 397199 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140057333G>A;NG_032158.1:g.18639C>T;NM_001258040.1:c.516C>T;NM_001258041.1:c.576C>T;NM_001258042.1:c.456C>T;NM_002109.4:c.636C>T;NP_001244969.1:p.Asn172=;NP_001244970.1:p.Asn192=;NP_001244971.1:p.Asn152=;NP_002100.2:p.Asn212= 1524726 1131039 397203 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 BUSHMAN 3035 NC_000005.9:g.140057386G>C;NG_032158.1:g.18586C>G;NM_001258040.1:c.511-48C>G;NM_001258041.1:c.571-48C>G;NM_001258042.1:c.451-48C>G;NM_002109.4:c.631-48C>G 200937201 112113896 BUSHMAN-chr5-140037569 5.50e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057386G>C;NG_032158.1:g.18586C>G;NM_001258040.1:c.511-48C>G;NM_001258041.1:c.571-48C>G;NM_001258042.1:c.451-48C>G;NM_002109.4:c.631-48C>G 221997131 112113896 pilot_1_YRI_3806814_chr5_140037570 5.50e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057386G>C;NG_032158.1:g.18586C>G;NM_001258040.1:c.511-48C>G;NM_001258041.1:c.571-48C>G;NM_001258042.1:c.451-48C>G;NM_002109.4:c.631-48C>G 490911578 112113896 20110521_exome_419376_chr5_140057386 5.50e-03 2012.02.21 2012.02.21 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057445G>A;NG_032158.1:g.18527C>T;NM_001258040.1:c.510+48C>T;NM_001258041.1:c.570+48C>T;NM_001258042.1:c.450+48C>T;NM_002109.4:c.630+48C>T 488815572 200262544 20110521_exome_83649_chr5_140057445 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140057465T>A;NG_032158.1:g.18507A>T;NM_001258040.1:c.510+28A>T;NM_001258041.1:c.570+28A>T;NM_001258042.1:c.450+28A>T;NM_002109.4:c.630+28A>T 491873370 200731993 SNV-chr5-140037649 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057493C>T;NG_032158.1:g.18479G>A;NM_001258040.1:c.510G>A;NM_001258041.1:c.570G>A;NM_001258042.1:c.450G>A;NM_002109.4:c.630G>A;NP_001244969.1:p.Lys170=;NP_001244970.1:p.Lys190=;NP_001244971.1:p.Lys150=;NP_002100.2:p.Lys210= 488815574 202162444 20110521_exome_83650_chr5_140057493 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140057507C>T;NG_032158.1:g.18465G>A;NM_001258040.1:c.496G>A;NM_001258041.1:c.556G>A;NM_001258042.1:c.436G>A;NM_002109.4:c.616G>A;NP_001244969.1:p.Asp166Asn;NP_001244970.1:p.Asp186Asn;NP_001244971.1:p.Asp146Asn;NP_002100.2:p.Asp206Asn 1524727 1131040 397207 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140057509C>T;NG_032158.1:g.18463G>A;NM_001258040.1:c.494G>A;NM_001258041.1:c.554G>A;NM_001258042.1:c.434G>A;NM_002109.4:c.614G>A;NP_001244969.1:p.Gly165Asp;NP_001244970.1:p.Gly185Asp;NP_001244971.1:p.Gly145Asp;NP_002100.2:p.Gly205Asp 332841445 147288996 20100804_snps_4484981_chr5_140057509 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140057509C>T;NG_032158.1:g.18463G>A;NM_001258040.1:c.494G>A;NM_001258041.1:c.554G>A;NM_001258042.1:c.434G>A;NM_002109.4:c.614G>A;NP_001244969.1:p.Gly165Asp;NP_001244970.1:p.Gly185Asp;NP_001244971.1:p.Gly145Asp;NP_002100.2:p.Gly205Asp 342189977 147288996 ESP2500-chr5-140057509 3.20e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057509C>T;NG_032158.1:g.18463G>A;NM_001258040.1:c.494G>A;NM_001258041.1:c.554G>A;NM_001258042.1:c.434G>A;NM_002109.4:c.614G>A;NP_001244969.1:p.Gly165Asp;NP_001244970.1:p.Gly185Asp;NP_001244971.1:p.Gly145Asp;NP_002100.2:p.Gly205Asp 490911579 147288996 20110521_exome_419377_chr5_140057509 3.20e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140057509C>T;NG_032158.1:g.18463G>A;NM_001258040.1:c.494G>A;NM_001258041.1:c.554G>A;NM_001258042.1:c.434G>A;NM_002109.4:c.614G>A;NP_001244969.1:p.Gly165Asp;NP_001244970.1:p.Gly185Asp;NP_001244971.1:p.Gly145Asp;NP_002100.2:p.Gly205Asp 491371635 147288996 nonsyn_87862_chr_5_140057509 3.20e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140057509C>T;NG_032158.1:g.18463G>A;NM_001258040.1:c.494G>A;NM_001258041.1:c.554G>A;NM_001258042.1:c.434G>A;NM_002109.4:c.614G>A;NP_001244969.1:p.Gly165Asp;NP_001244970.1:p.Gly185Asp;NP_001244971.1:p.Gly145Asp;NP_002100.2:p.Gly205Asp 491873371 147288996 SNV-chr5-140037693 3.20e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 WICVAR 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 3177490 2230361 WI-18833 4.35e-02 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 24621803 2230361 afd3320223 4.35e-02 2004.08.21 2004.09.13 2001.08.15 2012.11.28 137 APPLERA_GI 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 48412866 2230361 hCV15852555 4.35e-02 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 68951415 2230361 PGP03320223 4.35e-02 2007.01.30 2007.08.14 2001.08.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 159849294 2230361 HumanOmni1-Quad_v1-0_B_GA022788-0_T_F_1533455089 4.35e-02 2009.08.04 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 169036246 2230361 Human1M-Duov3_B_GA022788-0_T_F_1533455089 4.35e-02 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 233171037 2230361 pilot_1_CEU_2775666_chr5_140037719 4.35e-02 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 342189978 2230361 ESP2500-chr5-140057535 4.35e-02 2011.03.26 2011.03.26 2001.08.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 479157261 2230361 HumanOmni1-Quad_v1-0_C_GA022788-0_T_F_1853029738 4.35e-02 2012.01.30 2012.01.30 2001.08.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 483704102 2230361 HumanOmni2.5-4v1_D_kgp6326282-0_T_F_1823055261 4.35e-02 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 484946095 2230361 HumanOmni2.5-4v1_B_SNP5-140037719-0_T_F_1619283193 4.35e-02 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 490911580 2230361 20110521_exome_419378_chr5_140057535 4.35e-02 2012.02.21 2012.02.21 2001.08.15 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140057535G>A;NG_032158.1:g.18437C>T;NM_001258040.1:c.468C>T;NM_001258041.1:c.528C>T;NM_001258042.1:c.408C>T;NM_002109.4:c.588C>T;NP_001244969.1:p.Cys156=;NP_001244970.1:p.Cys176=;NP_001244971.1:p.Cys136=;NP_002100.2:p.Cys196= 491873372 2230361 SNV-chr5-140037719 4.35e-02 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 LEE 3035 NC_000005.9:g.140057580G>C;NG_032158.1:g.18392C>G;NM_001258040.1:c.423C>G;NM_001258041.1:c.483C>G;NM_001258042.1:c.363C>G;NM_002109.4:c.543C>G;NP_001244969.1:p.Asn141Lys;NP_001244970.1:p.Asn161Lys;NP_001244971.1:p.Asn121Lys;NP_002100.2:p.Asn181Lys 1524728 1131041 397217 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140057582T>G;NG_032158.1:g.18390A>C;NM_001258040.1:c.421A>C;NM_001258041.1:c.481A>C;NM_001258042.1:c.361A>C;NM_002109.4:c.541A>C;NP_001244969.1:p.Asn141His;NP_001244970.1:p.Asn161His;NP_001244971.1:p.Asn121His;NP_002100.2:p.Asn181His 1524729 1131042 397223 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140057583C>G;NG_032158.1:g.18389G>C;NM_001258040.1:c.420G>C;NM_001258041.1:c.480G>C;NM_001258042.1:c.360G>C;NM_002109.4:c.540G>C;NP_001244969.1:p.Gly140=;NP_001244970.1:p.Gly160=;NP_001244971.1:p.Gly120=;NP_002100.2:p.Gly180= 1524730 1131043 397225 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140057589A>G;NG_032158.1:g.18383T>C;NM_001258040.1:c.414T>C;NM_001258041.1:c.474T>C;NM_001258042.1:c.354T>C;NM_002109.4:c.534T>C;NP_001244969.1:p.Ile138=;NP_001244970.1:p.Ile158=;NP_001244971.1:p.Ile118=;NP_002100.2:p.Ile178= 1524731 1131044 397228 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 ABI 3035 NC_000005.9:g.140057600_140057601insC;NG_032158.1:g.18371_18372insG;NM_001258040.1:c.403-1_403insG;NM_001258041.1:c.463-1_463insG;NM_001258042.1:c.343-1_343insG;NM_002109.4:c.523-1_523insG 42630951 35217222 hCV32959344 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140057619C>T;NG_032158.1:g.18353G>A;NM_001258040.1:c.403-19G>A;NM_001258041.1:c.463-19G>A;NM_001258042.1:c.343-19G>A;NM_002109.4:c.523-19G>A 488815576 201712098 20110521_exome_83651_chr5_140057619 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140057623C>T;NG_032158.1:g.18349G>A;NM_001258040.1:c.403-23G>A;NM_001258041.1:c.463-23G>A;NM_001258042.1:c.343-23G>A;NM_002109.4:c.523-23G>A 200937205 112967222 BUSHMAN-chr5-140037806 2.70e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057623C>T;NG_032158.1:g.18349G>A;NM_001258040.1:c.403-23G>A;NM_001258041.1:c.463-23G>A;NM_001258042.1:c.343-23G>A;NM_002109.4:c.523-23G>A 332841446 112967222 20100804_snps_4484982_chr5_140057623 2.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057623C>T;NG_032158.1:g.18349G>A;NM_001258040.1:c.403-23G>A;NM_001258041.1:c.463-23G>A;NM_001258042.1:c.343-23G>A;NM_002109.4:c.523-23G>A 490911581 112967222 20110521_exome_419379_chr5_140057623 2.70e-03 2012.02.21 2012.02.21 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057657C>T;NG_032158.1:g.18315G>A;NM_001258040.1:c.403-57G>A;NM_001258041.1:c.463-57G>A;NM_001258042.1:c.343-57G>A;NM_002109.4:c.523-57G>A 332841447 142443502 20100804_snps_4484983_chr5_140057657 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140057668C>A;NG_032158.1:g.18304G>T;NM_001258040.1:c.403-68G>T;NM_001258041.1:c.463-68G>T;NM_001258042.1:c.343-68G>T;NM_002109.4:c.523-68G>T 221997132 79408883 pilot_1_YRI_3806815_chr5_140037852 2.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140057782C>G;NG_032158.1:g.18190G>C;NM_001258040.1:c.403-182G>C;NM_001258041.1:c.463-182G>C;NM_001258042.1:c.343-182G>C;NM_002109.4:c.523-182G>C 332841448 151330569 20100804_snps_4484984_chr5_140057782 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140057826T>A;NG_032158.1:g.18146A>T;NM_001258040.1:c.403-226A>T;NM_001258041.1:c.463-226A>T;NM_001258042.1:c.343-226A>T;NM_002109.4:c.523-226A>T 221997133 78677246 pilot_1_YRI_3806816_chr5_140038010 6.40e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057826T>A;NG_032158.1:g.18146A>T;NM_001258040.1:c.403-226A>T;NM_001258041.1:c.463-226A>T;NM_001258042.1:c.343-226A>T;NM_002109.4:c.523-226A>T 482490655 78677246 HumanOmni2.5-4v1_D_kgp22228716-0_T_R_1840351095 6.40e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140057826T>A;NG_032158.1:g.18146A>T;NM_001258040.1:c.403-226A>T;NM_001258041.1:c.463-226A>T;NM_001258042.1:c.343-226A>T;NM_002109.4:c.523-226A>T 484946097 78677246 HumanOmni2.5-4v1_B_SNP5-140038010-0_T_R_1638159760 6.40e-03 2012.02.04 2012.02.04 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140057838C>T;NG_032158.1:g.18134G>A;NM_001258040.1:c.403-238G>A;NM_001258041.1:c.463-238G>A;NM_001258042.1:c.343-238G>A;NM_002109.4:c.523-238G>A 162714228 111314092 NA07022_36_chr5_140038022 1.51e-02 2009.09.29 2009.09.29 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140057838C>T;NG_032158.1:g.18134G>A;NM_001258040.1:c.403-238G>A;NM_001258041.1:c.463-238G>A;NM_001258042.1:c.343-238G>A;NM_002109.4:c.523-238G>A 332841449 111314092 20100804_snps_4484985_chr5_140057838 1.51e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140058022T>G;NG_032158.1:g.17950A>C;NM_001258040.1:c.403-422A>C;NM_001258041.1:c.463-422A>C;NM_001258042.1:c.343-422A>C;NM_002109.4:c.523-422A>C 200937209 113408729 BUSHMAN-chr5-140038205 6.00e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058022T>G;NG_032158.1:g.17950A>C;NM_001258040.1:c.403-422A>C;NM_001258041.1:c.463-422A>C;NM_001258042.1:c.343-422A>C;NM_002109.4:c.523-422A>C 221997134 113408729 pilot_1_YRI_3806817_chr5_140038206 6.00e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058034A>G;NG_032158.1:g.17938T>C;NM_001258040.1:c.403-434T>C;NM_001258041.1:c.463-434T>C;NM_001258042.1:c.343-434T>C;NM_002109.4:c.523-434T>C 332841450 149977222 20100804_snps_4484986_chr5_140058034 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140058069A>G;NG_032158.1:g.17903T>C;NM_001258040.1:c.403-469T>C;NM_001258041.1:c.463-469T>C;NM_001258042.1:c.343-469T>C;NM_002109.4:c.523-469T>C 458427694 189404434 20101123_snps_4594924_chr5_140058069 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140058167C>T;NG_032158.1:g.17805G>A;NM_001258040.1:c.402+420G>A;NM_001258041.1:c.462+480G>A;NM_001258042.1:c.342+480G>A;NM_002109.4:c.522+420G>A 332841451 146560255 20100804_snps_4484987_chr5_140058167 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140058226G>A;NG_032158.1:g.17746C>T;NM_001258040.1:c.402+361C>T;NM_001258041.1:c.462+421C>T;NM_001258042.1:c.342+421C>T;NM_002109.4:c.522+361C>T 458427695 181819577 20101123_snps_4594925_chr5_140058226 1.19e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140058285C>T;NG_032158.1:g.17687G>A;NM_001258040.1:c.402+302G>A;NM_001258041.1:c.462+362G>A;NM_001258042.1:c.342+362G>A;NM_002109.4:c.522+302G>A 458427696 186176857 20101123_snps_4594926_chr5_140058285 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140058494A>G;NG_032158.1:g.17478T>C;NM_001258040.1:c.402+93T>C;NM_001258041.1:c.462+153T>C;NM_001258042.1:c.342+153T>C;NM_002109.4:c.522+93T>C 332841452 141291994 20100804_snps_4484988_chr5_140058494 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140058517C>T;NG_032158.1:g.17455G>A;NM_001258040.1:c.402+70G>A;NM_001258041.1:c.462+130G>A;NM_001258042.1:c.342+130G>A;NM_002109.4:c.522+70G>A 332841453 145059663 20100804_snps_4484989_chr5_140058517 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 3035 NC_000005.9:g.140058570G>A;NG_032158.1:g.17402C>T;NM_001258040.1:c.402+17C>T;NM_001258041.1:c.462+77C>T;NM_001258042.1:c.342+77C>T;NM_002109.4:c.522+17C>T 491873373 201107108 SNV-chr5-140038754 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LEE 3035 NC_000005.9:g.140058590C>G;NG_032158.1:g.17382G>C;NM_001258040.1:c.399G>C;NM_001258041.1:c.462+57G>C;NM_001258042.1:c.342+57G>C;NM_002109.4:c.519G>C;NP_001244969.1:p.Gln133His;NP_002100.2:p.Gln173His 1524732 1131045 397231 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 3035 NC_000005.9:g.140058593G>A;NG_032158.1:g.17379C>T;NM_001258040.1:c.396C>T;NM_001258041.1:c.462+54C>T;NM_001258042.1:c.342+54C>T;NM_002109.4:c.516C>T;NP_001244969.1:p.Tyr132=;NP_002100.2:p.Tyr172= 1524733 1131046 397233 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140058603C>T;NG_032158.1:g.17369G>A;NM_001258040.1:c.386G>A;NM_001258041.1:c.462+44G>A;NM_001258042.1:c.342+44G>A;NM_002109.4:c.506G>A;NP_001244969.1:p.Arg129Gln;NP_002100.2:p.Arg169Gln 342189979 146922029 ESP2500-chr5-140058603 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 LEE 3035 NC_000005.9:g.140058614A>T;NG_032158.1:g.17358T>A;NM_001258040.1:c.375T>A;NM_001258041.1:c.462+33T>A;NM_001258042.1:c.342+33T>A;NM_002109.4:c.495T>A;NP_001244969.1:p.Arg125=;NP_002100.2:p.Arg165= 1524734 1050251 397236 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 EXOME_CHIP 3035 NC_000005.9:g.140058630T>G;NG_032158.1:g.17342A>C;NM_001258040.1:c.359A>C;NM_001258041.1:c.462+17A>C;NM_001258042.1:c.342+17A>C;NM_002109.4:c.479A>C;NP_001244969.1:p.Asn120Thr;NP_002100.2:p.Asn160Thr 491371636 200294240 nonsyn_87863_chr_5_140058630 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 ILLUMINA 3035 NC_000005.9:g.140058633T>C;NG_032158.1:g.17339A>G;NM_001258040.1:c.356A>G;NM_001258041.1:c.462+14A>G;NM_001258042.1:c.342+14A>G;NM_002109.4:c.476A>G;NP_001244969.1:p.Asp119Gly;NP_002100.2:p.Asp159Gly 482528203 202212926 HumanOmni2.5-4v1_D_kgp22415709-0_T_R_1840725071 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058633T>C;NG_032158.1:g.17339A>G;NM_001258040.1:c.356A>G;NM_001258041.1:c.462+14A>G;NM_001258042.1:c.342+14A>G;NM_002109.4:c.476A>G;NP_001244969.1:p.Asp119Gly;NP_002100.2:p.Asp159Gly 484946101 202212926 HumanOmni2.5-4v1_B_SNP5-140038817-0_T_R_1647847665 2012.02.04 2012.02.04 2012.05.04 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140058664G>A;NG_032158.1:g.17308C>T;NM_001258040.1:c.325C>T;NM_001258041.1:c.445C>T;NM_001258042.1:c.325C>T;NM_002109.4:c.445C>T;NP_001244969.1:p.Arg109Cys;NP_001244970.1:p.Arg149Cys;NP_001244971.1:p.Arg109Cys;NP_002100.2:p.Arg149Cys 342189980 138035024 ESP2500-chr5-140058664 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140058699C>T;NG_032158.1:g.17273G>A;NM_001258040.1:c.290G>A;NM_001258041.1:c.410G>A;NM_001258042.1:c.290G>A;NM_002109.4:c.410G>A;NP_001244969.1:p.Arg97Gln;NP_001244970.1:p.Arg137Gln;NP_001244971.1:p.Arg97Gln;NP_002100.2:p.Arg137Gln 458427697 191391414 20101123_snps_4594927_chr5_140058699 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058699C>T;NG_032158.1:g.17273G>A;NM_001258040.1:c.290G>A;NM_001258041.1:c.410G>A;NM_001258042.1:c.290G>A;NM_002109.4:c.410G>A;NP_001244969.1:p.Arg97Gln;NP_001244970.1:p.Arg137Gln;NP_001244971.1:p.Arg97Gln;NP_002100.2:p.Arg137Gln 490911582 191391414 20110521_exome_419380_chr5_140058699 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140058699C>T;NG_032158.1:g.17273G>A;NM_001258040.1:c.290G>A;NM_001258041.1:c.410G>A;NM_001258042.1:c.290G>A;NM_002109.4:c.410G>A;NP_001244969.1:p.Arg97Gln;NP_001244970.1:p.Arg137Gln;NP_001244971.1:p.Arg97Gln;NP_002100.2:p.Arg137Gln 491371637 191391414 nonsyn_87864_chr_5_140058699 5.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140058699C>T;NG_032158.1:g.17273G>A;NM_001258040.1:c.290G>A;NM_001258041.1:c.410G>A;NM_001258042.1:c.290G>A;NM_002109.4:c.410G>A;NP_001244969.1:p.Arg97Gln;NP_001244970.1:p.Arg137Gln;NP_001244971.1:p.Arg97Gln;NP_002100.2:p.Arg137Gln 491873374 191391414 SNV-chr5-140038883 5.00e-04 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140058764G>C;NG_032158.1:g.17208C>G;NM_001258040.1:c.277-52C>G;NM_001258041.1:c.397-52C>G;NM_001258042.1:c.277-52C>G;NM_002109.4:c.397-52C>G 491873375 199849810 SNV-chr5-140038948 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058860A>G;NG_032158.1:g.17112T>C;NM_001258040.1:c.277-148T>C;NM_001258041.1:c.397-148T>C;NM_001258042.1:c.277-148T>C;NM_002109.4:c.397-148T>C 113346478 73271584 NA19240_2008_12_16_1234884_chr5_140039044 2.70e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140058860A>G;NG_032158.1:g.17112T>C;NM_001258040.1:c.277-148T>C;NM_001258041.1:c.397-148T>C;NM_001258042.1:c.277-148T>C;NM_002109.4:c.397-148T>C 165928879 73271584 NA19240_36_chr5_140039044 2.70e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058860A>G;NG_032158.1:g.17112T>C;NM_001258040.1:c.277-148T>C;NM_001258041.1:c.397-148T>C;NM_001258042.1:c.277-148T>C;NM_002109.4:c.397-148T>C 221997135 73271584 pilot_1_YRI_3806818_chr5_140039044 2.70e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058860A>G;NG_032158.1:g.17112T>C;NM_001258040.1:c.277-148T>C;NM_001258041.1:c.397-148T>C;NM_001258042.1:c.277-148T>C;NM_002109.4:c.397-148T>C 482501848 73271584 HumanOmni2.5-4v1_D_kgp22285196-0_T_F_1840464053 2.70e-03 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058860A>G;NG_032158.1:g.17112T>C;NM_001258040.1:c.277-148T>C;NM_001258041.1:c.397-148T>C;NM_001258042.1:c.277-148T>C;NM_002109.4:c.397-148T>C 484946103 73271584 HumanOmni2.5-4v1_B_SNP5-140039044-0_T_F_1644678470 2.70e-03 2012.02.04 2012.02.04 2009.02.14 2012.11.28 137 YUSUKE 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 2987864 2073512 IMS-JST009889 2.06e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 3188600 2073512 SNP000574184 2.06e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 16032087 2073512 NT_029289.10_1221820 2.06e-01 2003.11.18 2006.10.26 2001.06.15 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 24621804 2073512 afd3320224 2.06e-01 2004.08.21 2004.09.13 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 65764902 2073512 Human1-rs2073512 2.06e-01 2006.10.10 2006.10.10 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 75016279 2073512 ILMN_Human_1M_rs2073512 2.06e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 109460714 2073512 CEU.trio.12.15.2008_1374520_chr5_140039077 2.06e-01 2008.12.16 2008.12.16 2001.06.15 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 119415598 2073512 KHS1577845 2.06e-01 2009.02.04 2009.02.04 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 160498586 2073512 HumanOmni1-Quad_v1-0_B_rs2073512-128_B_F_1513968321 2.06e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 162714233 2073512 NA07022_36_chr5_140039077 2.06e-01 2009.09.29 2009.09.29 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 167145636 2073512 NA20431_36_chr5_140039077 2.06e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 173099189 2073512 Human1M-Duov3_B_rs2073512-128_B_F_1513968321 2.06e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 207023715 2073512 BCM_CMT_1011-1140319 2.06e-01 2010.03.18 2010.03.18 2001.06.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 233171038 2073512 pilot_1_CEU_2775667_chr5_140039077 2.06e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 240287734 2073512 pilot_1_CHB+JPT_2172811_chr5_140039077 2.06e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 278502590 2073512 GMI_AK_SNP_2822829 2.06e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 480412543 2073512 HumanOmni2.5-4v1_B_rs2073512-128_B_F_1731862734 2.06e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 480425964 2073512 HumanOmniExpress-12v1_C_rs2073512-131_B_F_1857107101 2.06e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 481209002 2073512 HumanOmni1-Quad_v1-0_C_rs2073512-131_B_F_1865484057 2.06e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140058893C>T;NG_032158.1:g.17079G>A;NM_001258040.1:c.277-181G>A;NM_001258041.1:c.397-181G>A;NM_001258042.1:c.277-181G>A;NM_002109.4:c.397-181G>A 485003800 2073512 HumanOmni2.5-4v1_D_rs2073512-131_B_F_1857107101 2.06e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059057G>C;NG_032158.1:g.16915C>G;NM_001258040.1:c.276+316C>G;NM_001258041.1:c.396+316C>G;NM_001258042.1:c.276+316C>G;NM_002109.4:c.396+316C>G 332841454 137973748 20100804_snps_4484990_chr5_140059057 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140059059G>A;NG_032158.1:g.16913C>T;NM_001258040.1:c.276+314C>T;NM_001258041.1:c.396+314C>T;NM_001258042.1:c.276+314C>T;NM_002109.4:c.396+314C>T 113346490 73271585 NA19240_2008_12_16_1234885_chr5_140039243 3.20e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140059059G>A;NG_032158.1:g.16913C>T;NM_001258040.1:c.276+314C>T;NM_001258041.1:c.396+314C>T;NM_001258042.1:c.276+314C>T;NM_002109.4:c.396+314C>T 165928882 73271585 NA19240_36_chr5_140039243 3.20e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059059G>A;NG_032158.1:g.16913C>T;NM_001258040.1:c.276+314C>T;NM_001258041.1:c.396+314C>T;NM_001258042.1:c.276+314C>T;NM_002109.4:c.396+314C>T 332841455 73271585 20100804_snps_4484991_chr5_140059059 3.20e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059068T>G;NG_032158.1:g.16904A>C;NM_001258040.1:c.276+305A>C;NM_001258041.1:c.396+305A>C;NM_001258042.1:c.276+305A>C;NM_002109.4:c.396+305A>C 458427698 181400061 20101123_snps_4594928_chr5_140059068 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140059092G>A;NG_032158.1:g.16880C>T;NM_001258040.1:c.276+281C>T;NM_001258041.1:c.396+281C>T;NM_001258042.1:c.276+281C>T;NM_002109.4:c.396+281C>T 458427699 186312047 20101123_snps_4594929_chr5_140059092 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140059211G>A;NG_032158.1:g.16761C>T;NM_001258040.1:c.276+162C>T;NM_001258041.1:c.396+162C>T;NM_001258042.1:c.276+162C>T;NM_002109.4:c.396+162C>T 332841456 143166254 20100804_snps_4484992_chr5_140059211 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140059353G>A;NG_032158.1:g.16619C>T;NM_001258040.1:c.276+20C>T;NM_001258041.1:c.396+20C>T;NM_001258042.1:c.276+20C>T;NM_002109.4:c.396+20C>T 458427700 191205977 20101123_snps_4594930_chr5_140059353 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059353G>A;NG_032158.1:g.16619C>T;NM_001258040.1:c.276+20C>T;NM_001258041.1:c.396+20C>T;NM_001258042.1:c.276+20C>T;NM_002109.4:c.396+20C>T 490911583 191205977 20110521_exome_419381_chr5_140059353 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140059374G>C;NG_032158.1:g.16598C>G;NM_001258040.1:c.275C>G;NM_001258041.1:c.395C>G;NM_001258042.1:c.275C>G;NM_002109.4:c.395C>G;NP_001244969.1:p.Thr92Ser;NP_001244970.1:p.Thr132Ser;NP_001244971.1:p.Thr92Ser;NP_002100.2:p.Thr132Ser 342189981 143473232 ESP2500-chr5-140059374 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140059374G>C;NG_032158.1:g.16598C>G;NM_001258040.1:c.275C>G;NM_001258041.1:c.395C>G;NM_001258042.1:c.275C>G;NM_002109.4:c.395C>G;NP_001244969.1:p.Thr92Ser;NP_001244970.1:p.Thr132Ser;NP_001244971.1:p.Thr92Ser;NP_002100.2:p.Thr132Ser 491371638 143473232 splice_87865_chr_5_140059374 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140059383T>G;NG_032158.1:g.16589A>C;NM_001258040.1:c.266A>C;NM_001258041.1:c.386A>C;NM_001258042.1:c.266A>C;NM_002109.4:c.386A>C;NP_001244969.1:p.Tyr89Ser;NP_001244970.1:p.Tyr129Ser;NP_001244971.1:p.Tyr89Ser;NP_002100.2:p.Tyr129Ser 342189982 147194882 ESP2500-chr5-140059383 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 3035 NC_000005.9:g.140059387G>A;NG_032158.1:g.16585C>T;NM_001258040.1:c.262C>T;NM_001258041.1:c.382C>T;NM_001258042.1:c.262C>T;NM_002109.4:c.382C>T;NP_001244969.1:p.Arg88Cys;NP_001244970.1:p.Arg128Cys;NP_001244971.1:p.Arg88Cys;NP_002100.2:p.Arg128Cys 342189983 138582560 ESP2500-chr5-140059387 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059387G>A;NG_032158.1:g.16585C>T;NM_001258040.1:c.262C>T;NM_001258041.1:c.382C>T;NM_001258042.1:c.262C>T;NM_002109.4:c.382C>T;NP_001244969.1:p.Arg88Cys;NP_001244970.1:p.Arg128Cys;NP_001244971.1:p.Arg88Cys;NP_002100.2:p.Arg128Cys 488815578 138582560 20110521_exome_83652_chr5_140059387 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140059387G>A;NG_032158.1:g.16585C>T;NM_001258040.1:c.262C>T;NM_001258041.1:c.382C>T;NM_001258042.1:c.262C>T;NM_002109.4:c.382C>T;NP_001244969.1:p.Arg88Cys;NP_001244970.1:p.Arg128Cys;NP_001244971.1:p.Arg88Cys;NP_002100.2:p.Arg128Cys 491371639 138582560 nonsyn_87866_chr_5_140059387 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 YSAMUELS 3035 NC_000005.8:g.140039575G>A NC_000005.9:g.140059391G>A;NG_032158.1:g.16581C>T;NM_001258040.1:c.258C>T;NM_001258041.1:c.378C>T;NM_001258042.1:c.258C>T;NM_002109.4:c.378C>T;NP_001244969.1:p.Ser86=;NP_001244970.1:p.Ser126=;NP_001244971.1:p.Ser86=;NP_002100.2:p.Ser126= 344939143 149542384 NC_000005.8:g.140039575G>A somatic untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 LEE 3035 NC_000005.9:g.140059412G>A;NG_032158.1:g.16560C>T;NM_001258040.1:c.237C>T;NM_001258041.1:c.357C>T;NM_001258042.1:c.237C>T;NM_002109.4:c.357C>T;NP_001244969.1:p.Asp79=;NP_001244970.1:p.Asp119=;NP_001244971.1:p.Asp79=;NP_002100.2:p.Asp119= 1524735 1050252 397242 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140059508A>G;NG_032158.1:g.16464T>C;NM_001258040.1:c.181-40T>C;NM_001258041.1:c.301-40T>C;NM_001258042.1:c.181-40T>C;NM_002109.4:c.301-40T>C 488815580 199708346 20110521_exome_83653_chr5_140059508 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140059866C>T;NG_032158.1:g.16106G>A;NM_001258040.1:c.181-398G>A;NM_001258041.1:c.301-398G>A;NM_001258042.1:c.181-398G>A;NM_002109.4:c.301-398G>A 332841457 148267541 20100804_snps_4484993_chr5_140059866 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140059965C>T;NG_032158.1:g.16007G>A;NM_001258040.1:c.181-497G>A;NM_001258041.1:c.301-497G>A;NM_001258042.1:c.181-497G>A;NM_002109.4:c.301-497G>A 200937213 112265354 BUSHMAN-chr5-140040148 2010.03.07 2010.03.07 2010.07.04 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140059976C>T;NG_032158.1:g.15996G>A;NM_001258040.1:c.181-508G>A;NM_001258041.1:c.301-508G>A;NM_001258042.1:c.181-508G>A;NM_002109.4:c.301-508G>A 458427701 182119902 20101123_snps_4594931_chr5_140059976 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140060026G>A;NG_032158.1:g.15946C>T;NM_001258040.1:c.181-558C>T;NM_001258041.1:c.301-558C>T;NM_001258042.1:c.181-558C>T;NM_002109.4:c.301-558C>T 458427702 187880261 20101123_snps_4594932_chr5_140060026 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 3035 NC_000005.9:g.140060061G>A;NG_032158.1:g.15911C>T;NM_001258040.1:c.181-593C>T;NM_001258041.1:c.301-593C>T;NM_001258042.1:c.181-593C>T;NM_002109.4:c.301-593C>T 200937217 113255561 BUSHMAN-chr5-140040244 5.50e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060061G>A;NG_032158.1:g.15911C>T;NM_001258040.1:c.181-593C>T;NM_001258041.1:c.301-593C>T;NM_001258042.1:c.181-593C>T;NM_002109.4:c.301-593C>T 221997136 113255561 pilot_1_YRI_3806819_chr5_140040245 5.50e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140060061G>A;NG_032158.1:g.15911C>T;NM_001258040.1:c.181-593C>T;NM_001258041.1:c.301-593C>T;NM_001258042.1:c.181-593C>T;NM_002109.4:c.301-593C>T 482534367 113255561 HumanOmni2.5-4v1_D_kgp22446899-0_B_R_1840792378 5.50e-03 2012.02.01 2012.02.01 2010.07.04 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140060061G>A;NG_032158.1:g.15911C>T;NM_001258040.1:c.181-593C>T;NM_001258041.1:c.301-593C>T;NM_001258042.1:c.181-593C>T;NM_002109.4:c.301-593C>T 484946105 113255561 HumanOmni2.5-4v1_B_SNP5-140040245-0_B_R_1638084946 5.50e-03 2012.02.04 2012.02.04 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060102C>G;NG_032158.1:g.15870G>C;NM_001258040.1:c.181-634G>C;NM_001258041.1:c.301-634G>C;NM_001258042.1:c.181-634G>C;NM_002109.4:c.301-634G>C 458427703 190989313 20101123_snps_4594933_chr5_140060102 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140060159C>T;NG_032158.1:g.15813G>A;NM_001258040.1:c.181-691G>A;NM_001258041.1:c.301-691G>A;NM_001258042.1:c.181-691G>A;NM_002109.4:c.301-691G>A 458427704 183084050 20101123_snps_4594934_chr5_140060159 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140060302T>A;NG_032158.1:g.15670A>T;NM_001258040.1:c.181-834A>T;NM_001258041.1:c.301-834A>T;NM_001258042.1:c.181-834A>T;NM_002109.4:c.301-834A>T 332841458 141386881 20100804_snps_4484994_chr5_140060302 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140060327A>G;NG_032158.1:g.15645T>C;NM_001258040.1:c.181-859T>C;NM_001258041.1:c.301-859T>C;NM_001258042.1:c.181-859T>C;NM_002109.4:c.301-859T>C 458427705 188705391 20101123_snps_4594935_chr5_140060327 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 3035 NC_000005.9:g.140060491T>A;NG_032158.1:g.15481A>T;NM_001258040.1:c.181-1023A>T;NM_001258041.1:c.301-1023A>T;NM_001258042.1:c.181-1023A>T;NM_002109.4:c.301-1023A>T 278502591 201654500 GMI_AK_SNP_2822830 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140060491_140060492insA;NG_032158.1:g.15480_15481insT;NM_001258040.1:c.181-1024_181-1023insT;NM_001258041.1:c.301-1024_301-1023insT;NM_001258042.1:c.181-1024_181-1023insT;NM_002109.4:c.301-1024_301-1023insT 288661740 200910251 GMI_AK_INDEL_404093 2010.12.23 2011.12.25 2012.05.04 2012.05.04 137 ILLUMINA-UK 3035 NC_000005.9:g.140060492T>A;NG_032158.1:g.15480A>T;NM_001258040.1:c.181-1024A>T;NM_001258041.1:c.301-1024A>T;NM_001258042.1:c.181-1024A>T;NM_002109.4:c.301-1024A>T 116832966 72800922 NA18507_000175739_NCBI36.1_chr5_140040676 variation has been flagged as failed by submitter 2009.01.18 2009.01.18 2009.02.14 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140060492T>A;NG_032158.1:g.15480A>T;NM_001258040.1:c.181-1024A>T;NM_001258041.1:c.301-1024A>T;NM_001258042.1:c.181-1024A>T;NM_002109.4:c.301-1024A>T 200937221 72800922 BUSHMAN-chr5-140040675 variation has been flagged as failed by submitter 2010.03.07 2010.03.07 2009.02.14 2012.11.28 137 BL 3035 NC_000005.9:g.140060492T>A;NG_032158.1:g.15480A>T;NM_001258040.1:c.181-1024A>T;NM_001258041.1:c.301-1024A>T;NM_001258042.1:c.181-1024A>T;NM_002109.4:c.301-1024A>T 253846403 72800922 SNP140203_5_140040676 variation has been flagged as failed by submitter 2010.08.19 2010.08.19 2009.02.14 2012.11.28 137 GMI 3035 NC_000005.9:g.140060492T>A;NG_032158.1:g.15480A>T;NM_001258040.1:c.181-1024A>T;NM_001258041.1:c.301-1024A>T;NM_001258042.1:c.181-1024A>T;NM_002109.4:c.301-1024A>T 278502592 72800922 GMI_AK_SNP_2822831 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060492_140060493insAA;NG_032158.1:g.15479_15480insTT;NM_001258040.1:c.181-1025_181-1024insTT;NM_001258041.1:c.301-1025_301-1024insTT;NM_001258042.1:c.181-1025_181-1024insTT;NM_002109.4:c.301-1025_301-1024insTT 326725745 148394305 JPTCHB_chr5_140040676_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 WI_SSAHASNP 3035 NC_000005.9:g.140060493A>T;NG_032158.1:g.15479T>A;NM_001258040.1:c.181-1025T>A;NM_001258041.1:c.301-1025T>A;NM_001258042.1:c.181-1025T>A;NM_002109.4:c.301-1025T>A 11697993 7701545 chr5.NT_029289.9_1223421 3.89e-02 2003.07.04 2003.10.10 2003.07.11 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140060493A>T;NG_032158.1:g.15479T>A;NM_001258040.1:c.181-1025T>A;NM_001258041.1:c.301-1025T>A;NM_001258042.1:c.181-1025T>A;NM_002109.4:c.301-1025T>A 458427706 7701545 20101123_snps_4594936_chr5_140060493 3.89e-02 2011.07.20 2011.07.20 2003.07.11 2011.10.06 137 GMI 3035 NC_000005.9:g.140060501G>A;NG_032158.1:g.15471C>T;NM_001258040.1:c.181-1033C>T;NM_001258041.1:c.301-1033C>T;NM_001258042.1:c.181-1033C>T;NM_002109.4:c.301-1033C>T 278502593 200233437 GMI_AK_SNP_2822832 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_JCM 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 3547051 2530240 AC005369.1_55181 4.19e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 77632924 2530240 Cor12156_SNV_20070510.chr5_140040731 4.19e-01 2007.10.14 2007.10.14 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 80260052 2530240 Cor18507_SNV_20070510.chr5_140040731 4.19e-01 2007.11.25 2007.11.25 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 93269114 2530240 JWB-2047124 4.19e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 109460722 2530240 CEU.trio.12.15.2008_1374522_chr5_140040731 4.19e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 113346496 2530240 NA19240_2008_12_16_1234886_chr5_140040731 4.19e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 116832967 2530240 NA18507_000175740_NCBI36.1_chr5_140040731 4.19e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 156094113 2530240 GMI_SNP_94244216 4.19e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 162714238 2530240 NA07022_36_chr5_140040731 4.19e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 165928885 2530240 NA19240_36_chr5_140040731 4.19e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 200937225 2530240 BUSHMAN-chr5-140040730 4.19e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 206790710 2530240 BCM_CMT_1011-1063593 4.19e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 221997140 2530240 pilot_1_YRI_3806823_chr5_140040731 4.19e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 233171040 2530240 pilot_1_CEU_2775669_chr5_140040731 4.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 240287736 2530240 pilot_1_CHB+JPT_2172813_chr5_140040731 4.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 253846409 2530240 SNP140204_5_140040731 4.19e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140060547T>C;NG_032158.1:g.15425A>G;NM_001258040.1:c.181-1079A>G;NM_001258041.1:c.301-1079A>G;NM_001258042.1:c.181-1079A>G;NM_002109.4:c.301-1079A>G 278502594 2530240 GMI_AK_SNP_2822833 4.19e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140060578C>T;NG_032158.1:g.15394G>A;NM_001258040.1:c.181-1110G>A;NM_001258041.1:c.301-1110G>A;NM_001258042.1:c.181-1110G>A;NM_002109.4:c.301-1110G>A 458427707 185077558 20101123_snps_4594937_chr5_140060578 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140060676C>A;NG_032158.1:g.15296G>T;NM_001258040.1:c.181-1208G>T;NM_001258041.1:c.301-1208G>T;NM_001258042.1:c.181-1208G>T;NM_002109.4:c.301-1208G>T 162714244 112701444 NA07022_36_chr5_140040860 2009.09.29 2009.09.29 2010.07.04 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140060681T>C;NG_032158.1:g.15291A>G;NM_001258040.1:c.181-1213A>G;NM_001258041.1:c.301-1213A>G;NM_001258042.1:c.181-1213A>G;NM_002109.4:c.301-1213A>G 458427708 187897435 20101123_snps_4594938_chr5_140060681 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140060923A>C;NG_032158.1:g.15049T>G;NM_001258040.1:c.181-1455T>G;NM_001258041.1:c.301-1455T>G;NM_001258042.1:c.181-1455T>G;NM_002109.4:c.301-1455T>G 332841459 147350096 20100804_snps_4484995_chr5_140060923 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140061055C>T;NG_032158.1:g.14917G>A;NM_001258040.1:c.181-1587G>A;NM_001258041.1:c.301-1587G>A;NM_001258042.1:c.181-1587G>A;NM_002109.4:c.301-1587G>A 221997141 116339664 pilot_1_YRI_3806824_chr5_140041239 1.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140061240G>A;NG_032158.1:g.14732C>T;NM_001258040.1:c.181-1772C>T;NM_001258041.1:c.300+1445C>T;NM_001258042.1:c.181-1772C>T;NM_002109.4:c.300+1445C>T 458427709 192784934 20101123_snps_4594939_chr5_140061240 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140061318T>A;NG_032158.1:g.14654A>T;NM_001258040.1:c.181-1850A>T;NM_001258041.1:c.300+1367A>T;NM_001258042.1:c.181-1850A>T;NM_002109.4:c.300+1367A>T 113346504 73271586 NA19240_2008_12_16_1234887_chr5_140041502 1.60e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 3035 NC_000005.9:g.140061318T>A;NG_032158.1:g.14654A>T;NM_001258040.1:c.181-1850A>T;NM_001258041.1:c.300+1367A>T;NM_001258042.1:c.181-1850A>T;NM_002109.4:c.300+1367A>T 116832968 73271586 NA18507_000175741_NCBI36.1_chr5_140041502 1.60e-02 2009.01.18 2009.01.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140061318T>A;NG_032158.1:g.14654A>T;NM_001258040.1:c.181-1850A>T;NM_001258041.1:c.300+1367A>T;NM_001258042.1:c.181-1850A>T;NM_002109.4:c.300+1367A>T 165928888 73271586 NA19240_36_chr5_140041502 1.60e-02 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140061318T>A;NG_032158.1:g.14654A>T;NM_001258040.1:c.181-1850A>T;NM_001258041.1:c.300+1367A>T;NM_001258042.1:c.181-1850A>T;NM_002109.4:c.300+1367A>T 200937229 73271586 BUSHMAN-chr5-140041501 1.60e-02 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140061318T>A;NG_032158.1:g.14654A>T;NM_001258040.1:c.181-1850A>T;NM_001258041.1:c.300+1367A>T;NM_001258042.1:c.181-1850A>T;NM_002109.4:c.300+1367A>T 221997142 73271586 pilot_1_YRI_3806825_chr5_140041502 1.60e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140061382G>A;NG_032158.1:g.14590C>T;NM_001258040.1:c.181-1914C>T;NM_001258041.1:c.300+1303C>T;NM_001258042.1:c.181-1914C>T;NM_002109.4:c.300+1303C>T 221997143 74336073 pilot_1_YRI_3806826_chr5_140041566 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140061430G>A;NG_032158.1:g.14542C>T;NM_001258040.1:c.181-1962C>T;NM_001258041.1:c.300+1255C>T;NM_001258042.1:c.181-1962C>T;NM_002109.4:c.300+1255C>T 332841460 137917558 20100804_snps_4484996_chr5_140061430 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 86188492 61093427 Cor18956_SNV_20070510.chr5_140041945 2.21e-01 2007.12.11 2007.12.11 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 109460725 61093427 CEU.trio.12.15.2008_1374523_chr5_140041945 2.21e-01 2008.12.16 2008.12.16 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 162714251 61093427 NA07022_36_chr5_140041945 2.21e-01 2009.09.29 2009.09.29 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 167145643 61093427 NA20431_36_chr5_140041945 2.21e-01 2009.09.30 2009.09.30 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 221997144 61093427 pilot_1_YRI_3806827_chr5_140041945 2.21e-01 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 233171042 61093427 pilot_1_CEU_2775671_chr5_140041945 2.21e-01 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 240287737 61093427 pilot_1_CHB+JPT_2172814_chr5_140041945 2.21e-01 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 GMI 3035 NC_000005.9:g.140061761C>T;NG_032158.1:g.14211G>A;NM_001258040.1:c.181-2293G>A;NM_001258041.1:c.300+924G>A;NM_001258042.1:c.181-2293G>A;NM_002109.4:c.300+924G>A 278502595 61093427 GMI_AK_SNP_2822834 2.21e-01 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061762G>A;NG_032158.1:g.14210C>T;NM_001258040.1:c.181-2294C>T;NM_001258041.1:c.300+923C>T;NM_001258042.1:c.181-2294C>T;NM_002109.4:c.300+923C>T 458427710 183854085 20101123_snps_4594940_chr5_140061762 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 3035 NC_000005.9:g.140061812T>A;NG_032158.1:g.14160A>T;NM_001258040.1:c.181-2344A>T;NM_001258041.1:c.300+873A>T;NM_001258042.1:c.181-2344A>T;NM_002109.4:c.300+873A>T 143484005 78085183 ENSSNP12926687 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 HGSV 3035 NC_000005.9:g.140061822T>A;NG_032158.1:g.14150A>T;NM_001258040.1:c.181-2354A>T;NM_001258041.1:c.300+863A>T;NM_001258042.1:c.181-2354A>T;NM_002109.4:c.300+863A>T 83318417 57408905 Cor18956_SNV_20070510.chr5_140042006 2.06e-01 2007.12.04 2007.12.04 2007.12.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061822T>A;NG_032158.1:g.14150A>T;NM_001258040.1:c.181-2354A>T;NM_001258041.1:c.300+863A>T;NM_001258042.1:c.181-2354A>T;NM_002109.4:c.300+863A>T 109460730 57408905 CEU.trio.12.15.2008_1374524_chr5_140042006 2.06e-01 2008.12.16 2008.12.16 2007.12.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061822T>A;NG_032158.1:g.14150A>T;NM_001258040.1:c.181-2354A>T;NM_001258041.1:c.300+863A>T;NM_001258042.1:c.181-2354A>T;NM_002109.4:c.300+863A>T 233171043 57408905 pilot_1_CEU_2775672_chr5_140042006 2.06e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061822T>A;NG_032158.1:g.14150A>T;NM_001258040.1:c.181-2354A>T;NM_001258041.1:c.300+863A>T;NM_001258042.1:c.181-2354A>T;NM_002109.4:c.300+863A>T 240287738 57408905 pilot_1_CHB+JPT_2172815_chr5_140042006 2.06e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 GMI 3035 NC_000005.9:g.140061822T>A;NG_032158.1:g.14150A>T;NM_001258040.1:c.181-2354A>T;NM_001258041.1:c.300+863A>T;NM_001258042.1:c.181-2354A>T;NM_002109.4:c.300+863A>T 278502596 57408905 GMI_AK_SNP_2822835 2.06e-01 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140061842C>T;NG_032158.1:g.14130G>A;NM_001258040.1:c.181-2374G>A;NM_001258041.1:c.300+843G>A;NM_001258042.1:c.181-2374G>A;NM_002109.4:c.300+843G>A 332841461 143476664 20100804_snps_4484997_chr5_140061842 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140062237G>A;NG_032158.1:g.13735C>T;NM_001258040.1:c.181-2769C>T;NM_001258041.1:c.300+448C>T;NM_001258042.1:c.181-2769C>T;NM_002109.4:c.300+448C>T 332841462 147172925 20100804_snps_4484998_chr5_140062237 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 3035 NC_000005.9:g.140062247A>T;NG_032158.1:g.13725T>A;NM_001258040.1:c.181-2779T>A;NM_001258041.1:c.300+438T>A;NM_001258042.1:c.181-2779T>A;NM_002109.4:c.300+438T>A 116832969 73791749 NA18507_000175742_NCBI36.1_chr5_140042431 1.28e-02 2009.01.18 2009.01.18 2009.02.14 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140062247A>T;NG_032158.1:g.13725T>A;NM_001258040.1:c.181-2779T>A;NM_001258041.1:c.300+438T>A;NM_001258042.1:c.181-2779T>A;NM_002109.4:c.300+438T>A 200937233 73791749 BUSHMAN-chr5-140042430 1.28e-02 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140062247A>T;NG_032158.1:g.13725T>A;NM_001258040.1:c.181-2779T>A;NM_001258041.1:c.300+438T>A;NM_001258042.1:c.181-2779T>A;NM_002109.4:c.300+438T>A 211724310 73791749 YRI.trio.3.2010_551329_chr5_140042431 1.28e-02 2010.03.30 2010.03.30 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140062247A>T;NG_032158.1:g.13725T>A;NM_001258040.1:c.181-2779T>A;NM_001258041.1:c.300+438T>A;NM_001258042.1:c.181-2779T>A;NM_002109.4:c.300+438T>A 221997145 73791749 pilot_1_YRI_3806828_chr5_140042431 1.28e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 ILLUMINA-UK 3035 NC_000005.9:g.140062389T>C;NG_032158.1:g.13583A>G;NM_001258040.1:c.181-2921A>G;NM_001258041.1:c.300+296A>G;NM_001258042.1:c.181-2921A>G;NM_002109.4:c.300+296A>G 116832970 73791750 NA18507_000175743_NCBI36.1_chr5_140042573 6.40e-03 2009.01.18 2009.01.18 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062389T>C;NG_032158.1:g.13583A>G;NM_001258040.1:c.181-2921A>G;NM_001258041.1:c.300+296A>G;NM_001258042.1:c.181-2921A>G;NM_002109.4:c.300+296A>G 211724312 73791750 YRI.trio.3.2010_551330_chr5_140042573 6.40e-03 2010.03.30 2010.03.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062389T>C;NG_032158.1:g.13583A>G;NM_001258040.1:c.181-2921A>G;NM_001258041.1:c.300+296A>G;NM_001258042.1:c.181-2921A>G;NM_002109.4:c.300+296A>G 332841463 73791750 20100804_snps_4484999_chr5_140062389 6.40e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 GMI 3035 NC_000005.9:g.140062414A>G;NG_032158.1:g.13558T>C;NM_001258040.1:c.181-2946T>C;NM_001258041.1:c.300+271T>C;NM_001258042.1:c.181-2946T>C;NM_002109.4:c.300+271T>C 278502597 188174426 GMI_AK_SNP_2822836 3.20e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062414A>G;NG_032158.1:g.13558T>C;NM_001258040.1:c.181-2946T>C;NM_001258041.1:c.300+271T>C;NM_001258042.1:c.181-2946T>C;NM_002109.4:c.300+271T>C 458427711 188174426 20101123_snps_4594941_chr5_140062414 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062422C>T;NG_032158.1:g.13550G>A;NM_001258040.1:c.181-2954G>A;NM_001258041.1:c.300+263G>A;NM_001258042.1:c.181-2954G>A;NM_002109.4:c.300+263G>A 332841464 149821411 20100804_snps_4485000_chr5_140062422 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 3547050 2530239 AC005369.1_53181 4.89e-01 2001.09.24 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 6790155 2530239 NT_029289.7_1186879 4.89e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 SI_EXO 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 52076051 2530239 NT_029289.10_1225474 4.89e-01 2006.03.29 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 65786499 2530239 Human1-rs2530239 4.89e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 74911832 2530239 ILMN_Human_1M_rs2530239 4.89e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 78526871 2530239 Cor18507_SNV_20070510.chr5_140042731 4.89e-01 2007.10.19 2007.10.19 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 109460733 2530239 CEU.trio.12.15.2008_1374525_chr5_140042731 4.89e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 113346513 2530239 NA19240_2008_12_16_1234888_chr5_140042731 4.89e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 116832971 2530239 NA18507_000175744_NCBI36.1_chr5_140042731 4.89e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 119438353 2530239 KHS1600600 4.89e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 156094122 2530239 GMI_SNP_128875161 4.89e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 162714258 2530239 NA07022_36_chr5_140042731 4.89e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 165928890 2530239 NA19240_36_chr5_140042731 4.89e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 167145651 2530239 NA20431_36_chr5_140042731 4.89e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 173382847 2530239 Human1M-Duov3_B_rs2530239-128_B_R_1513934309 4.89e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 200937237 2530239 BUSHMAN-chr5-140042730 4.89e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 206874483 2530239 BCM_CMT_1011-1091345 4.89e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 221997146 2530239 pilot_1_YRI_3806829_chr5_140042731 4.89e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 233171044 2530239 pilot_1_CEU_2775673_chr5_140042731 4.89e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 240287739 2530239 pilot_1_CHB+JPT_2172816_chr5_140042731 4.89e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 253846411 2530239 SNP140205_5_140042731 4.89e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 278502598 2530239 GMI_AK_SNP_2822837 4.89e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 293471535 2530239 SNP_2977893_chr5_140042731 4.89e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 483763730 2530239 HumanOmni2.5-4v1_D_kgp6651100-0_T_R_1816812295 4.89e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140062547C>T;NG_032158.1:g.13425G>A;NM_001258040.1:c.181-3079G>A;NM_001258041.1:c.300+138G>A;NM_001258042.1:c.181-3079G>A;NM_002109.4:c.300+138G>A 484946109 2530239 HumanOmni2.5-4v1_B_SNP5-140042731-0_T_R_1633894075 4.89e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140062596C>T;NG_032158.1:g.13376G>A;NM_001258040.1:c.181-3128G>A;NM_001258041.1:c.300+89G>A;NM_001258042.1:c.181-3128G>A;NM_002109.4:c.300+89G>A 165928893 113249111 NA19240_36_chr5_140042780 3.20e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062596C>T;NG_032158.1:g.13376G>A;NM_001258040.1:c.181-3128G>A;NM_001258041.1:c.300+89G>A;NM_001258042.1:c.181-3128G>A;NM_002109.4:c.300+89G>A 211724314 113249111 YRI.trio.3.2010_551331_chr5_140042780 3.20e-03 2010.03.30 2010.03.30 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062596C>T;NG_032158.1:g.13376G>A;NM_001258040.1:c.181-3128G>A;NM_001258041.1:c.300+89G>A;NM_001258042.1:c.181-3128G>A;NM_002109.4:c.300+89G>A 332841465 113249111 20100804_snps_4485001_chr5_140062596 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062635T>C;NG_032158.1:g.13337A>G;NM_001258040.1:c.181-3167A>G;NM_001258041.1:c.300+50A>G;NM_001258042.1:c.181-3167A>G;NM_002109.4:c.300+50A>G 332841466 148584540 20100804_snps_4485002_chr5_140062635 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062635T>C;NG_032158.1:g.13337A>G;NM_001258040.1:c.181-3167A>G;NM_001258041.1:c.300+50A>G;NM_001258042.1:c.181-3167A>G;NM_002109.4:c.300+50A>G 490911584 148584540 20110521_exome_419382_chr5_140062635 1.80e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062724G>A;NG_032158.1:g.13248C>T;NM_001258040.1:c.181-3256C>T;NM_001258041.1:c.261C>T;NM_001258042.1:c.181-3256C>T;NM_002109.4:c.261C>T;NP_001244970.1:p.His87=;NP_002100.2:p.His87= 458427712 181930530 20101123_snps_4594942_chr5_140062724 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062724G>A;NG_032158.1:g.13248C>T;NM_001258040.1:c.181-3256C>T;NM_001258041.1:c.261C>T;NM_001258042.1:c.181-3256C>T;NM_002109.4:c.261C>T;NP_001244970.1:p.His87=;NP_002100.2:p.His87= 490911585 181930530 20110521_exome_419383_chr5_140062724 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062751G>A;NG_032158.1:g.13221C>T;NM_001258040.1:c.181-3283C>T;NM_001258041.1:c.234C>T;NM_001258042.1:c.181-3283C>T;NM_002109.4:c.234C>T;NP_001244970.1:p.Asp78=;NP_002100.2:p.Asp78= 332841467 142994969 20100804_snps_4485003_chr5_140062751 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062751G>A;NG_032158.1:g.13221C>T;NM_001258040.1:c.181-3283C>T;NM_001258041.1:c.234C>T;NM_001258042.1:c.181-3283C>T;NM_002109.4:c.234C>T;NP_001244970.1:p.Asp78=;NP_002100.2:p.Asp78= 490911586 142994969 20110521_exome_419384_chr5_140062751 5.50e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140062789T>A;NG_032158.1:g.13183A>T;NM_001258040.1:c.181-3321A>T;NM_001258041.1:c.196A>T;NM_001258042.1:c.181-3321A>T;NM_002109.4:c.196A>T;NP_001244970.1:p.Ser66Cys;NP_002100.2:p.Ser66Cys 491873376 200908212 SNV-chr5-140042973 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140062790A>G;NG_032158.1:g.13182T>C;NM_001258040.1:c.181-3322T>C;NM_001258041.1:c.195T>C;NM_001258042.1:c.181-3322T>C;NM_002109.4:c.195T>C;NP_001244970.1:p.Tyr65=;NP_002100.2:p.Tyr65= 491873377 202077643 SNV-chr5-140042974 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140062804C>G;NG_032158.1:g.13168G>C;NM_001258040.1:c.181-3336G>C;NM_001258041.1:c.181G>C;NM_001258042.1:c.181-3336G>C;NM_002109.4:c.181G>C;NP_001244970.1:p.Gly61Arg;NP_002100.2:p.Gly61Arg 342189984 149336018 ESP2500-chr5-140062804 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140062819C>G;NG_032158.1:g.13153G>C;NM_001258040.1:c.181-3351G>C;NM_001258041.1:c.181-15G>C;NM_001258042.1:c.181-3351G>C;NM_002109.4:c.181-15G>C 458427713 184748736 20101123_snps_4594943_chr5_140062819 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062819C>G;NG_032158.1:g.13153G>C;NM_001258040.1:c.181-3351G>C;NM_001258041.1:c.181-15G>C;NM_001258042.1:c.181-3351G>C;NM_002109.4:c.181-15G>C 490911587 184748736 20110521_exome_419385_chr5_140062819 2.30e-03 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062896G>A;NG_032158.1:g.13076C>T;NM_001258040.1:c.181-3428C>T;NM_001258041.1:c.181-92C>T;NM_001258042.1:c.181-3428C>T;NM_002109.4:c.181-92C>T 332841468 76999025 20100804_snps_4485004_chr5_140062896 2.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140062938C>A;NG_032158.1:g.13034G>T;NM_001258040.1:c.181-3470G>T;NM_001258041.1:c.181-134G>T;NM_001258042.1:c.181-3470G>T;NM_002109.4:c.181-134G>T 200937241 113489608 BUSHMAN-chr5-140043121 5.00e-04 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062938C>A;NG_032158.1:g.13034G>T;NM_001258040.1:c.181-3470G>T;NM_001258041.1:c.181-134G>T;NM_001258042.1:c.181-3470G>T;NM_002109.4:c.181-134G>T 458427714 113489608 20101123_snps_4594944_chr5_140062938 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140062967C>T;NG_032158.1:g.13005G>A;NM_001258040.1:c.181-3499G>A;NM_001258041.1:c.181-163G>A;NM_001258042.1:c.181-3499G>A;NM_002109.4:c.181-163G>A 458427715 181706697 20101123_snps_4594945_chr5_140062967 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140062972T>C;NG_032158.1:g.13000A>G;NM_001258040.1:c.181-3504A>G;NM_001258041.1:c.181-168A>G;NM_001258042.1:c.181-3504A>G;NM_002109.4:c.181-168A>G 332841469 141220649 20100804_snps_4485005_chr5_140062972 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 1010849 801189 OVLP-000804-190289 4.20e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 3547049 801189 AC005369.1_52637 4.20e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 24145271 801189 afd3320226 4.20e-01 2004.08.21 2004.09.13 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 74991763 801189 ILMN_Human_1M_rs801189 4.20e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 78969724 801189 Cor18507_SNV_20070510.chr5_140043275 4.20e-01 2007.10.21 2007.10.21 2000.10.05 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 93269116 801189 JWB-2047125 4.20e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 109460737 801189 CEU.trio.12.15.2008_1374526_chr5_140043275 4.20e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 113346518 801189 NA19240_2008_12_16_1234889_chr5_140043275 4.20e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 116832972 801189 NA18507_000175745_NCBI36.1_chr5_140043275 4.20e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 119368537 801189 KHS1530784 4.20e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 143484010 801189 ENSSNP12926688 4.20e-01 2009.06.06 2009.06.06 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 156094128 801189 GMI_SNP_29158037 4.20e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 162714264 801189 NA07022_36_chr5_140043275 4.20e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 165928896 801189 NA19240_36_chr5_140043275 4.20e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 167145659 801189 NA20431_36_chr5_140043275 4.20e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 174668602 801189 Human1M-Duov3_B_rs801189-128_B_F_1513983765 4.20e-01 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 200937248 801189 BUSHMAN-chr5-140043274 4.20e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 206724838 801189 BCM_CMT_1011-1032555 4.20e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 221997147 801189 pilot_1_YRI_3806830_chr5_140043275 4.20e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 233171045 801189 pilot_1_CEU_2775674_chr5_140043275 4.20e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 240287740 801189 pilot_1_CHB+JPT_2172817_chr5_140043275 4.20e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 253846416 801189 SNP140206_5_140043275 4.20e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 278502599 801189 GMI_AK_SNP_2822838 4.20e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140063091A>G;NG_032158.1:g.12881T>C;NM_001258040.1:c.181-3623T>C;NM_001258041.1:c.181-287T>C;NM_001258042.1:c.181-3623T>C;NM_002109.4:c.181-287T>C 293471536 801189 SNP_2977894_chr5_140043275 4.20e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063167A>G;NG_032158.1:g.12805T>C;NM_001258040.1:c.181-3699T>C;NM_001258041.1:c.181-363T>C;NM_001258042.1:c.181-3699T>C;NM_002109.4:c.181-363T>C 458427716 186663247 20101123_snps_4594946_chr5_140063167 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140063279C>T;NG_032158.1:g.12693G>A;NM_001258040.1:c.181-3811G>A;NM_001258041.1:c.181-475G>A;NM_001258042.1:c.181-3811G>A;NM_002109.4:c.181-475G>A 221997148 116730458 pilot_1_YRI_3806831_chr5_140043463 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140063282C>T;NG_032158.1:g.12690G>A;NM_001258040.1:c.181-3814G>A;NM_001258041.1:c.181-478G>A;NM_001258042.1:c.181-3814G>A;NM_002109.4:c.181-478G>A 332841471 146820726 20100804_snps_4485007_chr5_140063282 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140063288G>A;NG_032158.1:g.12684C>T;NM_001258040.1:c.181-3820C>T;NM_001258041.1:c.181-484C>T;NM_001258042.1:c.181-3820C>T;NM_002109.4:c.181-484C>T 113346528 73271591 NA19240_2008_12_16_1234890_chr5_140043472 1.60e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 3035 NC_000005.9:g.140063288G>A;NG_032158.1:g.12684C>T;NM_001258040.1:c.181-3820C>T;NM_001258041.1:c.181-484C>T;NM_001258042.1:c.181-3820C>T;NM_002109.4:c.181-484C>T 116832973 73271591 NA18507_000175746_NCBI36.1_chr5_140043472 1.60e-02 2009.01.18 2009.01.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140063288G>A;NG_032158.1:g.12684C>T;NM_001258040.1:c.181-3820C>T;NM_001258041.1:c.181-484C>T;NM_001258042.1:c.181-3820C>T;NM_002109.4:c.181-484C>T 165928900 73271591 NA19240_36_chr5_140043472 1.60e-02 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140063288G>A;NG_032158.1:g.12684C>T;NM_001258040.1:c.181-3820C>T;NM_001258041.1:c.181-484C>T;NM_001258042.1:c.181-3820C>T;NM_002109.4:c.181-484C>T 200937252 73271591 BUSHMAN-chr5-140043471 1.60e-02 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140063288G>A;NG_032158.1:g.12684C>T;NM_001258040.1:c.181-3820C>T;NM_001258041.1:c.181-484C>T;NM_001258042.1:c.181-3820C>T;NM_002109.4:c.181-484C>T 221997149 73271591 pilot_1_YRI_3806832_chr5_140043472 1.60e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140063366G>A;NG_032158.1:g.12606C>T;NM_001258040.1:c.181-3898C>T;NM_001258041.1:c.181-562C>T;NM_001258042.1:c.181-3898C>T;NM_002109.4:c.181-562C>T 458427717 191104160 20101123_snps_4594947_chr5_140063366 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 3035 NC_000005.9:g.140063532C>A;NG_032158.1:g.12440G>T;NM_001258040.1:c.181-4064G>T;NM_001258041.1:c.181-728G>T;NM_001258042.1:c.181-4064G>T;NM_002109.4:c.181-728G>T 200937256 112427345 BUSHMAN-chr5-140043715 6.40e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063532C>A;NG_032158.1:g.12440G>T;NM_001258040.1:c.181-4064G>T;NM_001258041.1:c.181-728G>T;NM_001258042.1:c.181-4064G>T;NM_002109.4:c.181-728G>T 458427718 112427345 20101123_snps_4594948_chr5_140063532 6.40e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 SSAHASNP 3035 NC_000005.9:g.140063649C>A;NG_032158.1:g.12323G>T;NM_001258040.1:c.181-4181G>T;NM_001258041.1:c.181-845G>T;NM_001258042.1:c.181-4181G>T;NM_002109.4:c.181-845G>T 22327846 13180544 WGSA-200403-chr5.chr5.NT_029289.10_1226576 2004.03.21 2004.03.21 2004.04.05 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140063873_140063884delAAAACAAAAACA;NG_032158.1:g.12088_12099delTGTTTTTGTTTT;NM_001258040.1:c.181-4416_181-4405delTGTTTTTGTTTT;NM_001258041.1:c.181-1080_181-1069delTGTTTTTGTTTT;NM_001258042.1:c.181-4416_181-4405delTGTTTTTGTTTT;NM_002109.4:c.181-1080_181-1069delTGTTTTTGTTTT 499287400 201864120 20110316_indels_chr5_140063872_140063883 1.65e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 81126793 60987104 Cor18956_DIV_20070510.chr5_140044079-140044084_1 2007.11.28 2007.11.28 2007.12.16 2012.11.28 137 HGSV 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 82194597 60987104 Cor18555_DIV_20070510.chr5_140044079-140044084_1 2007.12.02 2007.12.02 2007.12.16 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140063892delA;NC_000005.9:g.140063892delAinsAAAC;NG_032158.1:g.12080delT;NG_032158.1:g.12080delTinsGTTT;NM_001258040.1:c.181-4424delT;NM_001258040.1:c.181-4424delTinsGTTT;NM_001258041.1:c.181-1088delT;NM_001258041.1:c.181-1088delTinsGTTT;NM_001258042.1:c.181-4424delT;NM_001258042.1:c.181-4424delTinsGTTT;NM_002109.4:c.181-1088delT;NM_002109.4:c.181-1088delTinsGTTT 100162461 71848069 INDEL_GP36_2008a_2649498_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 GMI 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 288661741 60987104 GMI_AK_INDEL_404094 2010.12.23 2011.12.25 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 326725746 60987104 JPTCHB_chr5_140044075_indel 2011.03.12 2011.04.02 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 326770072 60987104 CEU_chr5_140044075_indel 2011.03.12 2011.04.02 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 326998934 60987104 YRI_chr5_140044075_indel 2011.03.12 2011.04.02 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140063892_140063895delAAAC;NG_032158.1:g.12077_12080delGTTT;NM_001258040.1:c.181-4427_181-4424delGTTT;NM_001258041.1:c.181-1091_181-1088delGTTT;NM_001258042.1:c.181-4427_181-4424delGTTT;NM_002109.4:c.181-1091_181-1088delGTTT 499287404 60987104 20110316_indels_chr5_140063891_140063894 2012.03.19 2012.03.19 2007.12.16 2012.11.28 137 GMI 3035 NC_000005.9:g.140063895C>A;NG_032158.1:g.12077G>T;NM_001258040.1:c.181-4427G>T;NM_001258041.1:c.181-1091G>T;NM_001258042.1:c.181-4427G>T;NM_002109.4:c.181-1091G>T 278502600 201982440 GMI_AK_SNP_2822839 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140063895_140063896insAA;NG_032158.1:g.12076_12077insTT;NM_001258040.1:c.181-4428_181-4427insTT;NM_001258041.1:c.181-1092_181-1091insTT;NM_001258042.1:c.181-4428_181-4427insTT;NM_002109.4:c.181-1092_181-1091insTT 288661742 199897593 GMI_AK_INDEL_404095 2010.12.23 2011.12.25 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140063898A>C;NG_032158.1:g.12074T>G;NM_001258040.1:c.181-4430T>G;NM_001258041.1:c.181-1094T>G;NM_001258042.1:c.181-4430T>G;NM_002109.4:c.181-1094T>G 278502601 199588468 GMI_AK_SNP_2822840 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140063898_140063899insAA;NG_032158.1:g.12073_12074insTT;NM_001258040.1:c.181-4431_181-4430insTT;NM_001258041.1:c.181-1095_181-1094insTT;NM_001258042.1:c.181-4431_181-4430insTT;NM_002109.4:c.181-1095_181-1094insTT 288661743 201030963 GMI_AK_INDEL_404096 2010.12.23 2011.12.25 2012.05.04 2012.05.04 137 1000GENOMES 3035 NC_000005.9:g.140064104C>A;NG_032158.1:g.11868G>T;NM_001258040.1:c.181-4636G>T;NM_001258041.1:c.181-1300G>T;NM_001258042.1:c.181-4636G>T;NM_002109.4:c.181-1300G>T 458427719 185100584 20101123_snps_4594949_chr5_140064104 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064138A>G;NG_032158.1:g.11834T>C;NM_001258040.1:c.181-4670T>C;NM_001258041.1:c.181-1334T>C;NM_001258042.1:c.181-4670T>C;NM_002109.4:c.181-1334T>C 332841472 140516034 20100804_snps_4485008_chr5_140064138 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140064143T>G;NG_032158.1:g.11829A>C;NM_001258040.1:c.181-4675A>C;NM_001258041.1:c.181-1339A>C;NM_001258042.1:c.181-4675A>C;NM_002109.4:c.181-1339A>C 458427720 189563577 20101123_snps_4594950_chr5_140064143 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064176G>T;NG_032158.1:g.11796C>A;NM_001258040.1:c.181-4708C>A;NM_001258041.1:c.181-1372C>A;NM_001258042.1:c.181-4708C>A;NM_002109.4:c.181-1372C>A 458427721 183430882 20101123_snps_4594951_chr5_140064176 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064214C>T;NG_032158.1:g.11758G>A;NM_001258040.1:c.181-4746G>A;NM_001258041.1:c.181-1410G>A;NM_001258042.1:c.181-4746G>A;NM_002109.4:c.181-1410G>A 109460740 72800924 CEU.trio.12.15.2008_1374527_chr5_140044398 2008.12.16 2008.12.16 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140064352A>C;NG_032158.1:g.11620T>G;NM_001258040.1:c.181-4884T>G;NM_001258041.1:c.181-1548T>G;NM_001258042.1:c.181-4884T>G;NM_002109.4:c.181-1548T>G 221997150 116411189 pilot_1_YRI_3806833_chr5_140044536 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140064577T>C;NG_032158.1:g.11395A>G;NM_001258040.1:c.181-5109A>G;NM_001258041.1:c.181-1773A>G;NM_001258042.1:c.181-5109A>G;NM_002109.4:c.181-1773A>G 113346536 73271594 NA19240_2008_12_16_1234891_chr5_140044761 3.20e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140064577T>C;NG_032158.1:g.11395A>G;NM_001258040.1:c.181-5109A>G;NM_001258041.1:c.181-1773A>G;NM_001258042.1:c.181-5109A>G;NM_002109.4:c.181-1773A>G 165928903 73271594 NA19240_36_chr5_140044761 3.20e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140064577T>C;NG_032158.1:g.11395A>G;NM_001258040.1:c.181-5109A>G;NM_001258041.1:c.181-1773A>G;NM_001258042.1:c.181-5109A>G;NM_002109.4:c.181-1773A>G 332841473 73271594 20100804_snps_4485009_chr5_140064577 3.20e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140064586G>A;NG_032158.1:g.11386C>T;NM_001258040.1:c.181-5118C>T;NM_001258041.1:c.181-1782C>T;NM_001258042.1:c.181-5118C>T;NM_002109.4:c.181-1782C>T 458427722 188766717 20101123_snps_4594952_chr5_140064586 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064590G>A;NG_032158.1:g.11382C>T;NM_001258040.1:c.181-5122C>T;NM_001258041.1:c.181-1786C>T;NM_001258042.1:c.181-5122C>T;NM_002109.4:c.181-1786C>T 458427723 191999492 20101123_snps_4594953_chr5_140064590 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064593G>A;NG_032158.1:g.11379C>T;NM_001258040.1:c.181-5125C>T;NM_001258041.1:c.181-1789C>T;NM_001258042.1:c.181-5125C>T;NM_002109.4:c.181-1789C>T 458427724 183366286 20101123_snps_4594954_chr5_140064593 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140064694C>T;NG_032158.1:g.11278G>A;NM_001258040.1:c.181-5226G>A;NM_001258041.1:c.181-1890G>A;NM_001258042.1:c.181-5226G>A;NM_002109.4:c.181-1890G>A 113346543 73271596 NA19240_2008_12_16_1234892_chr5_140044878 2.70e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140064694C>T;NG_032158.1:g.11278G>A;NM_001258040.1:c.181-5226G>A;NM_001258041.1:c.181-1890G>A;NM_001258042.1:c.181-5226G>A;NM_002109.4:c.181-1890G>A 165928906 73271596 NA19240_36_chr5_140044878 2.70e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140064694C>T;NG_032158.1:g.11278G>A;NM_001258040.1:c.181-5226G>A;NM_001258041.1:c.181-1890G>A;NM_001258042.1:c.181-5226G>A;NM_002109.4:c.181-1890G>A 458427725 73271596 20101123_snps_4594955_chr5_140064694 2.70e-03 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 HGSV 3035 NC_000005.9:g.140064769_140064770insA;NG_032158.1:g.11202_11203insT;NM_001258040.1:c.181-5302_181-5301insT;NM_001258041.1:c.181-1966_181-1965insT;NM_001258042.1:c.181-5302_181-5301insT;NM_002109.4:c.181-1966_181-1965insT 81087316 59702263 Cor18956_DIV_20070510.chr5_140044967-140044968_1 2007.11.27 2007.11.27 2007.12.15 2012.11.28 137 GMI 3035 NC_000005.9:g.140064769_140064770insA;NG_032158.1:g.11202_11203insT;NM_001258040.1:c.181-5302_181-5301insT;NM_001258041.1:c.181-1966_181-1965insT;NM_001258042.1:c.181-5302_181-5301insT;NM_002109.4:c.181-1966_181-1965insT 288661744 59702263 GMI_AK_INDEL_404097 2010.12.23 2011.12.25 2007.12.15 2012.11.28 137 PJP 3035 NC_000005.9:g.140064769_140064770insA;NG_032158.1:g.11202_11203insT;NM_001258040.1:c.181-5302_181-5301insT;NM_001258041.1:c.181-1966_181-1965insT;NM_001258042.1:c.181-5302_181-5301insT;NM_002109.4:c.181-1966_181-1965insT 295247698 59702263 DIP_685402_chr5_140044953 2011.01.23 2011.01.23 2007.12.15 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140064783A>G;NG_032158.1:g.11189T>C;NM_001258040.1:c.181-5315T>C;NM_001258041.1:c.181-1979T>C;NM_001258042.1:c.181-5315T>C;NM_002109.4:c.181-1979T>C 143484014 75409415 ENSSNP12926689 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140064888G>A;NG_032158.1:g.11084C>T;NM_001258040.1:c.181-5420C>T;NM_001258041.1:c.181-2084C>T;NM_001258042.1:c.181-5420C>T;NM_002109.4:c.181-2084C>T 240287742 78299006 pilot_1_CHB+JPT_2172819_chr5_140045072 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140064926G>T;NG_032158.1:g.11046C>A;NM_001258040.1:c.181-5458C>A;NM_001258041.1:c.181-2122C>A;NM_001258042.1:c.181-5458C>A;NM_002109.4:c.181-2122C>A 109460744 72800925 CEU.trio.12.15.2008_1374528_chr5_140045110 variation has been flagged as failed by submitter 2008.12.16 2008.12.16 2009.02.14 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140065033G>A;NG_032158.1:g.10939C>T;NM_001258040.1:c.180+5407C>T;NM_001258041.1:c.181-2229C>T;NM_001258042.1:c.180+5407C>T;NM_002109.4:c.181-2229C>T 332841474 138612783 20100804_snps_4485010_chr5_140065033 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 3035 NC_000005.9:g.140065065G>A;NG_032158.1:g.10907C>T;NM_001258040.1:c.180+5375C>T;NM_001258041.1:c.181-2261C>T;NM_001258042.1:c.180+5375C>T;NM_002109.4:c.181-2261C>T 253846419 139145072 SNP140207_5_140045249 1.37e-02 2010.08.19 2010.08.19 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140065065G>A;NG_032158.1:g.10907C>T;NM_001258040.1:c.180+5375C>T;NM_001258041.1:c.181-2261C>T;NM_001258042.1:c.180+5375C>T;NM_002109.4:c.181-2261C>T 332841475 139145072 20100804_snps_4485011_chr5_140065065 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140065108T>C;NG_032158.1:g.10864A>G;NM_001258040.1:c.180+5332A>G;NM_001258041.1:c.181-2304A>G;NM_001258042.1:c.180+5332A>G;NM_002109.4:c.181-2304A>G 332841476 147011612 20100804_snps_4485012_chr5_140065108 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140065136C>T;NG_032158.1:g.10836G>A;NM_001258040.1:c.180+5304G>A;NM_001258041.1:c.181-2332G>A;NM_001258042.1:c.180+5304G>A;NM_002109.4:c.181-2332G>A 458427726 191852363 20101123_snps_4594956_chr5_140065136 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 1062537 812381 OVLP-000804-190287 4.83e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 3290184 812381 TSC1430560 4.83e-01 2001.09.20 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 3547048 812381 AC005369.1_50524 4.83e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 ABI 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 42543463 812381 hCV26312060 4.83e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 81063867 812381 Cor18555_SNV_20070510.chr5_140045387 4.83e-01 2007.11.27 2007.11.27 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 156094135 812381 GMI_SNP_231641270 4.83e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 162714268 812381 NA07022_36_chr5_140045387 4.83e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 200937260 812381 BUSHMAN-chr5-140045386 4.83e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 207246036 812381 BCM_CMT_1011-1214309 4.83e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 253846423 812381 SNP140208_5_140045387 4.83e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 278502602 812381 GMI_AK_SNP_2822841 4.83e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140065203C>G;NG_032158.1:g.10769G>C;NM_001258040.1:c.180+5237G>C;NM_001258041.1:c.181-2399G>C;NM_001258042.1:c.180+5237G>C;NM_002109.4:c.181-2399G>C 332841477 812381 20100804_snps_4485013_chr5_140065203 4.83e-01 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140065233G>T;NG_032158.1:g.10739C>A;NM_001258040.1:c.180+5207C>A;NM_001258041.1:c.181-2429C>A;NM_001258042.1:c.180+5207C>A;NM_002109.4:c.181-2429C>A 332841478 143436373 20100804_snps_4485014_chr5_140065233 1.65e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 3035 NC_000005.9:g.140065305_140065306insAA;NG_032158.1:g.10666_10667insTT;NM_001258040.1:c.180+5134_180+5135insTT;NM_001258041.1:c.181-2502_181-2501insTT;NM_001258042.1:c.180+5134_180+5135insTT;NM_002109.4:c.181-2502_181-2501insTT 81920500 60936249 Cor18555_DIV_20070510.chr5_140045503-140045504_1 2007.12.01 2007.12.01 2007.12.16 2011.07.08 137 GMI 3035 NC_000005.9:g.140065319_140065320insA;NC_000005.9:g.140065319_140065320insAA;NG_032158.1:g.10652_10653insT;NG_032158.1:g.10652_10653insTT;NM_001258040.1:c.180+5120_180+5121insT;NM_001258040.1:c.180+5120_180+5121insTT;NM_001258041.1:c.181-2516_181-2515insT;NM_001258041.1:c.181-2516_181-2515insTT;NM_001258042.1:c.180+5120_180+5121insT;NM_001258042.1:c.180+5120_180+5121insTT;NM_002109.4:c.181-2516_181-2515insT;NM_002109.4:c.181-2516_181-2515insTT 288661745 200072201 GMI_AK_INDEL_404098 2010.12.23 2011.12.25 2012.05.04 2012.05.04 137 1000GENOMES 3035 NC_000005.9:g.140065346C>T;NG_032158.1:g.10626G>A;NM_001258040.1:c.180+5094G>A;NM_001258041.1:c.181-2542G>A;NM_001258042.1:c.180+5094G>A;NM_002109.4:c.181-2542G>A 458427727 183982931 20101123_snps_4594957_chr5_140065346 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140065417C>G;NG_032158.1:g.10555G>C;NM_001258040.1:c.180+5023G>C;NM_001258041.1:c.181-2613G>C;NM_001258042.1:c.180+5023G>C;NM_002109.4:c.181-2613G>C 458427728 186823043 20101123_snps_4594958_chr5_140065417 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 3035 NC_000005.9:g.140065531T>G;NG_032158.1:g.10441A>C;NM_001258040.1:c.180+4909A>C;NM_001258041.1:c.181-2727A>C;NM_001258042.1:c.180+4909A>C;NM_002109.4:c.181-2727A>C 143484017 76085408 ENSSNP12926691 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 GMI 3035 NC_000005.9:g.140065886G>A;NG_032158.1:g.10086C>T;NM_001258040.1:c.180+4554C>T;NM_001258041.1:c.181-3082C>T;NM_001258042.1:c.180+4554C>T;NM_002109.4:c.181-3082C>T 278502603 191385862 GMI_AK_SNP_2822842 1.40e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140065886G>A;NG_032158.1:g.10086C>T;NM_001258040.1:c.180+4554C>T;NM_001258041.1:c.181-3082C>T;NM_001258042.1:c.180+4554C>T;NM_002109.4:c.181-3082C>T 458427729 191385862 20101123_snps_4594959_chr5_140065886 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140065893C>T;NG_032158.1:g.10079G>A;NM_001258040.1:c.180+4547G>A;NM_001258041.1:c.181-3089G>A;NM_001258042.1:c.180+4547G>A;NM_002109.4:c.181-3089G>A 458427730 185867584 20101123_snps_4594960_chr5_140065893 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140066028T>C;NG_032158.1:g.9944A>G;NM_001258040.1:c.180+4412A>G;NM_001258041.1:c.181-3224A>G;NM_001258042.1:c.180+4412A>G;NM_002109.4:c.181-3224A>G 458427731 190289555 20101123_snps_4594961_chr5_140066028 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140066036C>T;NG_032158.1:g.9936G>A;NM_001258040.1:c.180+4404G>A;NM_001258041.1:c.181-3232G>A;NM_001258042.1:c.180+4404G>A;NM_002109.4:c.181-3232G>A 458427732 182106891 20101123_snps_4594962_chr5_140066036 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066059G>C;NG_032158.1:g.9913C>G;NM_001258040.1:c.180+4381C>G;NM_001258041.1:c.181-3255C>G;NM_001258042.1:c.180+4381C>G;NM_002109.4:c.181-3255C>G 165928907 112769834 NA19240_36_chr5_140046243 3.20e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066059G>C;NG_032158.1:g.9913C>G;NM_001258040.1:c.180+4381C>G;NM_001258041.1:c.181-3255C>G;NM_001258042.1:c.180+4381C>G;NM_002109.4:c.181-3255C>G 458427733 112769834 20101123_snps_4594963_chr5_140066059 3.20e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066067G>A;NG_032158.1:g.9905C>T;NM_001258040.1:c.180+4373C>T;NM_001258041.1:c.181-3263C>T;NM_001258042.1:c.180+4373C>T;NM_002109.4:c.181-3263C>T 458427734 190065567 20101123_snps_4594964_chr5_140066067 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 3035 NC_000005.9:g.140066083C>T;NG_032158.1:g.9889G>A;NM_001258040.1:c.180+4357G>A;NM_001258041.1:c.181-3279G>A;NM_001258042.1:c.180+4357G>A;NM_002109.4:c.181-3279G>A 200937264 112033118 BUSHMAN-chr5-140046266 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 ENSEMBL 3035 NC_000005.9:g.140066188C>T;NG_032158.1:g.9784G>A;NM_001258040.1:c.180+4252G>A;NM_001258041.1:c.181-3384G>A;NM_001258042.1:c.180+4252G>A;NM_002109.4:c.181-3384G>A 143484022 77844754 ENSSNP12926692 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 ENSEMBL 3035 NC_000005.9:g.140066203T>G;NG_032158.1:g.9769A>C;NM_001258040.1:c.180+4237A>C;NM_001258041.1:c.181-3399A>C;NM_001258042.1:c.180+4237A>C;NM_002109.4:c.181-3399A>C 143484026 76471225 ENSSNP12926693 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140066255G>T;NG_032158.1:g.9717C>A;NM_001258040.1:c.180+4185C>A;NM_001258041.1:c.181-3451C>A;NM_001258042.1:c.180+4185C>A;NM_002109.4:c.181-3451C>A 458427735 181240610 20101123_snps_4594965_chr5_140066255 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 3035 NC_000005.9:g.140066270C>T;NG_032158.1:g.9702G>A;NM_001258040.1:c.180+4170G>A;NM_001258041.1:c.181-3466G>A;NM_001258042.1:c.180+4170G>A;NM_002109.4:c.181-3466G>A 17076211 11745372 CSHL-HuAA-200402.chr5.NT_029289.10_1229197 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 SSAHASNP 3035 NC_000005.9:g.140066270C>T;NG_032158.1:g.9702G>A;NM_001258040.1:c.180+4170G>A;NM_001258041.1:c.181-3466G>A;NM_001258042.1:c.180+4170G>A;NM_002109.4:c.181-3466G>A 22239034 11745372 WGSA-200403-chr5.chr5.NT_029289.10_1229197 2004.03.21 2004.03.21 2004.02.28 2011.09.09 137 ABI 3035 NC_000005.9:g.140066270C>T;NG_032158.1:g.9702G>A;NM_001258040.1:c.180+4170G>A;NM_001258041.1:c.181-3466G>A;NM_001258042.1:c.180+4170G>A;NM_002109.4:c.181-3466G>A 42483544 11745372 hCV31021193 2005.07.18 2005.07.18 2004.02.28 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140066302T>C;NG_032158.1:g.9670A>G;NM_001258040.1:c.180+4138A>G;NM_001258041.1:c.181-3498A>G;NM_001258042.1:c.180+4138A>G;NM_002109.4:c.181-3498A>G 458427736 185440931 20101123_snps_4594966_chr5_140066302 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 1010848 1089305 OVLP-000804-190285 4.18e-01 2000.09.02 2003.10.10 2000.10.13 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 3547047 1089305 AC005369.1_49420 4.18e-01 2001.09.24 2003.10.10 2000.10.13 2012.11.28 137 BCM_SSAHASNP 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 10267685 1089305 chr5.NT_029289.9_1229234 4.18e-01 2003.06.29 2003.10.10 2000.10.13 2012.11.28 137 HGSV 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 84934080 1089305 Cor19240_SNV_20070510.chr5_140046490 4.18e-01 2007.12.08 2007.12.08 2000.10.13 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 93269118 1089305 JWB-2047126 4.18e-01 2008.03.04 2008.03.04 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 113346574 1089305 NA19240_2008_12_16_1234896_chr5_140046490 4.18e-01 2008.12.18 2008.12.18 2000.10.13 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 116832974 1089305 NA18507_000175747_NCBI36.1_chr5_140046490 4.18e-01 2009.01.18 2009.01.18 2000.10.13 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 143484029 1089305 ENSSNP12926694 4.18e-01 2009.06.06 2009.06.06 2000.10.13 2012.11.28 137 GMI 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 156094143 1089305 GMI_SNP_67707712 4.18e-01 2009.06.24 2009.06.24 2000.10.13 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 162714274 1089305 NA07022_36_chr5_140046490 4.18e-01 2009.09.29 2009.09.29 2000.10.13 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 165928911 1089305 NA19240_36_chr5_140046490 4.18e-01 2009.09.30 2009.09.30 2000.10.13 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 167145667 1089305 NA20431_36_chr5_140046490 4.18e-01 2009.09.30 2009.09.30 2000.10.13 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 200937268 1089305 BUSHMAN-chr5-140046489 4.18e-01 2010.03.07 2010.03.07 2000.10.13 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 207143280 1089305 BCM_CMT_1011-1180109 4.18e-01 2010.03.18 2010.03.18 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 221997152 1089305 pilot_1_YRI_3806835_chr5_140046490 4.18e-01 2010.04.22 2010.04.22 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 233171048 1089305 pilot_1_CEU_2775677_chr5_140046490 4.18e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 240287743 1089305 pilot_1_CHB+JPT_2172820_chr5_140046490 4.18e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 BL 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 253846428 1089305 SNP140209_5_140046490 4.18e-01 2010.08.19 2010.08.19 2000.10.13 2012.11.28 137 GMI 3035 NC_000005.9:g.140066306T>C;NG_032158.1:g.9666A>G;NM_001258040.1:c.180+4134A>G;NM_001258041.1:c.181-3502A>G;NM_001258042.1:c.180+4134A>G;NM_002109.4:c.181-3502A>G 278502604 1089305 GMI_AK_SNP_2822843 4.18e-01 2010.12.16 2010.12.16 2000.10.13 2012.11.28 137 BCM_SSAHASNP 3035 NC_000005.9:g.140066420C>T;NG_032158.1:g.9552G>A;NM_001258040.1:c.180+4020G>A;NM_001258041.1:c.181-3616G>A;NM_001258042.1:c.180+4020G>A;NM_002109.4:c.181-3616G>A 10218369 6873628 chr5.NT_029289.9_1229348 1.33e-02 2003.06.29 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066420C>T;NG_032158.1:g.9552G>A;NM_001258040.1:c.180+4020G>A;NM_001258041.1:c.181-3616G>A;NM_001258042.1:c.180+4020G>A;NM_002109.4:c.181-3616G>A 332841479 6873628 20100804_snps_4485015_chr5_140066420 1.33e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 ABI 3035 NC_000005.9:g.140066477C>A;NG_032158.1:g.9495G>T;NM_001258040.1:c.180+3963G>T;NM_001258041.1:c.181-3673G>T;NM_001258042.1:c.180+3963G>T;NM_002109.4:c.181-3673G>T 42548521 35790592 hCV26312058 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 KWOK 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 1010847 1089304 OVLP-000804-190284 1.80e-01 2000.09.02 2003.10.10 2000.10.13 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 3598339 1089304 AC010687.6_207197 1.80e-01 2001.09.24 2003.10.10 2000.10.13 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 75003099 1089304 ILMN_Human_1M_rs1089304 1.80e-01 2007.08.29 2007.08.29 2000.10.13 2012.11.28 137 HGSV 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 79732615 1089304 Cor18507_SNV_20070510.chr5_140046684 1.80e-01 2007.11.23 2007.11.23 2000.10.13 2012.11.28 137 HGSV 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 85387200 1089304 Cor18517_SNV_20070510.chr5_140046684 1.80e-01 2007.12.09 2007.12.09 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 109460752 1089304 CEU.trio.12.15.2008_1374530_chr5_140046684 1.80e-01 2008.12.16 2008.12.16 2000.10.13 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 116832975 1089304 NA18507_000175748_NCBI36.1_chr5_140046684 1.80e-01 2009.01.18 2009.01.18 2000.10.13 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 119382141 1089304 KHS1544388 1.80e-01 2009.02.04 2009.02.04 2000.10.13 2012.11.28 137 GMI 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 156094150 1089304 GMI_SNP_94236088 1.80e-01 2009.06.24 2009.06.24 2000.10.13 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 159934917 1089304 HumanOmni1-Quad_v1-0_B_rs1089304-128_T_F_1513953928 1.80e-01 2009.08.04 2009.10.01 2000.10.13 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 170714837 1089304 Human1M-Duov3_B_rs1089304-128_T_F_1513953928 1.80e-01 2009.10.01 2009.10.01 2000.10.13 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 200937272 1089304 BUSHMAN-chr5-140046683 1.80e-01 2010.03.07 2010.03.07 2000.10.13 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 207096630 1089304 BCM_CMT_1011-1164645 1.80e-01 2010.03.18 2010.03.18 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 221997153 1089304 pilot_1_YRI_3806836_chr5_140046684 1.80e-01 2010.04.22 2010.04.22 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 233171049 1089304 pilot_1_CEU_2775678_chr5_140046684 1.80e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 240287744 1089304 pilot_1_CHB+JPT_2172821_chr5_140046684 1.80e-01 2010.05.01 2010.05.01 2000.10.13 2012.11.28 137 BL 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 253846431 1089304 SNP140210_5_140046684 1.80e-01 2010.08.19 2010.08.19 2000.10.13 2012.11.28 137 GMI 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 278502605 1089304 GMI_AK_SNP_2822844 1.80e-01 2010.12.16 2010.12.16 2000.10.13 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140066500T>G;NG_032158.1:g.9472A>C;NM_001258040.1:c.180+3940A>C;NM_001258041.1:c.181-3696A>C;NM_001258042.1:c.180+3940A>C;NM_002109.4:c.181-3696A>C 479805735 1089304 HumanOmni1-Quad_v1-0_C_rs1089304-131_T_F_1862952772 1.80e-01 2012.01.31 2012.01.31 2000.10.13 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066551T>C;NG_032158.1:g.9421A>G;NM_001258040.1:c.180+3889A>G;NM_001258041.1:c.181-3747A>G;NM_001258042.1:c.180+3889A>G;NM_002109.4:c.181-3747A>G 458427737 188345926 20101123_snps_4594967_chr5_140066551 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140066582T>C;NG_032158.1:g.9390A>G;NM_001258040.1:c.180+3858A>G;NM_001258041.1:c.181-3778A>G;NM_001258042.1:c.180+3858A>G;NM_002109.4:c.181-3778A>G 332841480 148213958 20100804_snps_4485016_chr5_140066582 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140066881G>T;NG_032158.1:g.9091C>A;NM_001258040.1:c.180+3559C>A;NM_001258041.1:c.180+3559C>A;NM_001258042.1:c.180+3559C>A;NM_002109.4:c.180+3559C>A 233171050 115091892 pilot_1_CEU_2775679_chr5_140047065 5.50e-03 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 KWOK 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 1010846 801188 OVLP-000804-190283 4.03e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 3547046 801188 AC005369.1_48810 4.03e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 6789912 801188 NT_029289.7_1191248 4.03e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 77469142 801188 Cor12156_SNV_20070510.chr5_140047100 4.03e-01 2007.10.13 2007.10.13 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 78951771 801188 Cor18507_SNV_20070510.chr5_140047100 4.03e-01 2007.10.21 2007.10.21 2000.10.05 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 93269119 801188 JWB-2047127 4.03e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 109460755 801188 CEU.trio.12.15.2008_1374531_chr5_140047100 4.03e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 116832976 801188 NA18507_000175749_NCBI36.1_chr5_140047100 4.03e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 156094157 801188 GMI_SNP_28810621 4.03e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 162714282 801188 NA07022_36_chr5_140047100 4.03e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 167145676 801188 NA20431_36_chr5_140047100 4.03e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 200937276 801188 BUSHMAN-chr5-140047099 4.03e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 207170679 801188 BCM_CMT_1011-1189263 4.03e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 221997154 801188 pilot_1_YRI_3806837_chr5_140047100 4.03e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 233171051 801188 pilot_1_CEU_2775680_chr5_140047100 4.03e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 240287745 801188 pilot_1_CHB+JPT_2172822_chr5_140047100 4.03e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 253846436 801188 SNP140211_5_140047100 4.03e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 278502606 801188 GMI_AK_SNP_2822845 4.03e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140066916G>T;NG_032158.1:g.9056C>A;NM_001258040.1:c.180+3524C>A;NM_001258041.1:c.180+3524C>A;NM_001258042.1:c.180+3524C>A;NM_002109.4:c.180+3524C>A 293471537 801188 SNP_2977895_chr5_140047100 4.03e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140066940G>A;NG_032158.1:g.9032C>T;NM_001258040.1:c.180+3500C>T;NM_001258041.1:c.180+3500C>T;NM_001258042.1:c.180+3500C>T;NM_002109.4:c.180+3500C>T 458427738 180765564 20101123_snps_4594968_chr5_140066940 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140067215A>T;NG_032158.1:g.8757T>A;NM_001258040.1:c.180+3225T>A;NM_001258041.1:c.180+3225T>A;NM_001258042.1:c.180+3225T>A;NM_002109.4:c.180+3225T>A 458427739 187617985 20101123_snps_4594969_chr5_140067215 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 1010845 801187 OVLP-000804-190282 2.82e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 3598338 801187 AC010687.6_206478 2.82e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 6789913 801187 NT_029289.7_1191551 2.82e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 14305246 801187 chr5.NT_029289.10_1230146 2.82e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 77582427 801187 Cor12156_SNV_20070510.chr5_140047403 2.82e-01 2007.10.13 2007.10.13 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 80129368 801187 Cor18507_SNV_20070510.chr5_140047403 2.82e-01 2007.11.24 2007.11.24 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 84114193 801187 Cor19240_SNV_20070510.chr5_140047403 2.82e-01 2007.12.06 2007.12.06 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 85699426 801187 Cor18517_SNV_20070510.chr5_140047403 2.82e-01 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 93269121 801187 JWB-2047128 2.82e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 109460760 801187 CEU.trio.12.15.2008_1374532_chr5_140047403 2.82e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 113346584 801187 NA19240_2008_12_16_1234897_chr5_140047403 2.82e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 116832977 801187 NA18507_000175750_NCBI36.1_chr5_140047403 2.82e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 200937280 801187 BUSHMAN-chr5-140047402 2.82e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 221997155 801187 pilot_1_YRI_3806838_chr5_140047403 2.82e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 233171052 801187 pilot_1_CEU_2775681_chr5_140047403 2.82e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 240287746 801187 pilot_1_CHB+JPT_2172823_chr5_140047403 2.82e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 253846439 801187 SNP140212_5_140047403 2.82e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 278502607 801187 GMI_AK_SNP_2822846 2.82e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140067219A>T;NG_032158.1:g.8753T>A;NM_001258040.1:c.180+3221T>A;NM_001258041.1:c.180+3221T>A;NM_001258042.1:c.180+3221T>A;NM_002109.4:c.180+3221T>A 293471538 801187 SNP_2977896_chr5_140047403 2.82e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067223T>A;NG_032158.1:g.8749A>T;NM_001258040.1:c.180+3217A>T;NM_001258041.1:c.180+3217A>T;NM_001258042.1:c.180+3217A>T;NM_002109.4:c.180+3217A>T 240287747 117912126 pilot_1_CHB+JPT_2172824_chr5_140047407 3.02e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 3035 NC_000005.9:g.140067223T>A;NG_032158.1:g.8749A>T;NM_001258040.1:c.180+3217A>T;NM_001258041.1:c.180+3217A>T;NM_001258042.1:c.180+3217A>T;NM_002109.4:c.180+3217A>T 278502608 117912126 GMI_AK_SNP_2822847 3.02e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 CSHL-HAPMAP 3035 NC_000005.9:g.140067306C>A;NG_032158.1:g.8666G>T;NM_001258040.1:c.180+3134G>T;NM_001258041.1:c.180+3134G>T;NM_001258042.1:c.180+3134G>T;NM_002109.4:c.180+3134G>T 20236932 12653992 CSHL-HuFF-200402.chr5.NT_029289.10_1230233 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140067306C>A;NG_032158.1:g.8666G>T;NM_001258040.1:c.180+3134G>T;NM_001258041.1:c.180+3134G>T;NM_001258042.1:c.180+3134G>T;NM_002109.4:c.180+3134G>T 160291531 12653992 HumanOmni1-Quad_v1-0_B_rs12653992-128_B_R_1577068901 2009.08.06 2009.10.02 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140067306C>A;NG_032158.1:g.8666G>T;NM_001258040.1:c.180+3134G>T;NM_001258041.1:c.180+3134G>T;NM_001258042.1:c.180+3134G>T;NM_002109.4:c.180+3134G>T 480382910 12653992 HumanOmni1-Quad_v1-0_C_rs12653992-131_B_R_1863351052 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067360T>A;NG_032158.1:g.8612A>T;NM_001258040.1:c.180+3080A>T;NM_001258041.1:c.180+3080A>T;NM_001258042.1:c.180+3080A>T;NM_002109.4:c.180+3080A>T 458427740 192015101 20101123_snps_4594970_chr5_140067360 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140067402G>A;NG_032158.1:g.8570C>T;NM_001258040.1:c.180+3038C>T;NM_001258041.1:c.180+3038C>T;NM_001258042.1:c.180+3038C>T;NM_002109.4:c.180+3038C>T 458427741 183942045 20101123_snps_4594971_chr5_140067402 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 3035 NC_000005.9:g.140067418delT;NG_032158.1:g.8554delA;NM_001258040.1:c.180+3022delA;NM_001258041.1:c.180+3022delA;NM_001258042.1:c.180+3022delA;NM_002109.4:c.180+3022delA 42406355 34246519 hCV32959343 2005.07.18 2005.07.18 2006.03.13 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140067425C>T;NG_032158.1:g.8547G>A;NM_001258040.1:c.180+3015G>A;NM_001258041.1:c.180+3015G>A;NM_001258042.1:c.180+3015G>A;NM_002109.4:c.180+3015G>A 458427742 186764765 20101123_snps_4594972_chr5_140067425 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140067524C>T;NG_032158.1:g.8448G>A;NM_001258040.1:c.180+2916G>A;NM_001258041.1:c.180+2916G>A;NM_001258042.1:c.180+2916G>A;NM_002109.4:c.180+2916G>A 458427743 190476138 20101123_snps_4594973_chr5_140067524 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140067578A>G;NG_032158.1:g.8394T>C;NM_001258040.1:c.180+2862T>C;NM_001258041.1:c.180+2862T>C;NM_001258042.1:c.180+2862T>C;NM_002109.4:c.180+2862T>C 458427744 182813126 20101123_snps_4594974_chr5_140067578 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140067645C>T;NG_032158.1:g.8327G>A;NM_001258040.1:c.180+2795G>A;NM_001258041.1:c.180+2795G>A;NM_001258042.1:c.180+2795G>A;NM_002109.4:c.180+2795G>A 458427745 187136933 20101123_snps_4594975_chr5_140067645 1.01e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 3035 NC_000005.9:g.140067689delA;NC_000005.9:g.140067689delAinsAAACAAAACA;NG_032158.1:g.8283delT;NG_032158.1:g.8283delTinsTGTTTTGTTT;NM_001258040.1:c.180+2751delT;NM_001258040.1:c.180+2751delTinsTGTTTTGTTT;NM_001258041.1:c.180+2751delT;NM_001258041.1:c.180+2751delTinsTGTTTTGTTT;NM_001258042.1:c.180+2751delT;NM_001258042.1:c.180+2751delTinsTGTTTTGTTT;NM_002109.4:c.180+2751delT;NM_002109.4:c.180+2751delTinsTGTTTTGTTT 14950232 10534451 INDEL_GP34_WGS_27036 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140067689delA;NC_000005.9:g.140067689delAinsAAACAAAACA;NG_032158.1:g.8283delT;NG_032158.1:g.8283delTinsTGTTTTGTTT;NM_001258040.1:c.180+2751delT;NM_001258040.1:c.180+2751delTinsTGTTTTGTTT;NM_001258041.1:c.180+2751delT;NM_001258041.1:c.180+2751delTinsTGTTTTGTTT;NM_001258042.1:c.180+2751delT;NM_001258042.1:c.180+2751delTinsTGTTTTGTTT;NM_002109.4:c.180+2751delT;NM_002109.4:c.180+2751delTinsTGTTTTGTTT 50127258 10534451 INDEL_GP35_WGS_339171 2006.01.24 2006.01.24 2003.12.05 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140067689delA;NC_000005.9:g.140067689delAinsAAACAAAACA;NG_032158.1:g.8283delT;NG_032158.1:g.8283delTinsTGTTTTGTTT;NM_001258040.1:c.180+2751delT;NM_001258040.1:c.180+2751delTinsTGTTTTGTTT;NM_001258041.1:c.180+2751delT;NM_001258041.1:c.180+2751delTinsTGTTTTGTTT;NM_001258042.1:c.180+2751delT;NM_001258042.1:c.180+2751delTinsTGTTTTGTTT;NM_002109.4:c.180+2751delT;NM_002109.4:c.180+2751delTinsTGTTTTGTTT 99955286 10534451 INDEL_GP36_2007a_197636_0 2008.05.06 2008.05.06 2003.12.05 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140067689delA;NC_000005.9:g.140067689delAinsAAACAAAACA;NG_032158.1:g.8283delT;NG_032158.1:g.8283delTinsTGTTTTGTTT;NM_001258040.1:c.180+2751delT;NM_001258040.1:c.180+2751delTinsTGTTTTGTTT;NM_001258041.1:c.180+2751delT;NM_001258041.1:c.180+2751delTinsTGTTTTGTTT;NM_001258042.1:c.180+2751delT;NM_001258042.1:c.180+2751delTinsTGTTTTGTTT;NM_002109.4:c.180+2751delT;NM_002109.4:c.180+2751delTinsTGTTTTGTTT 101831590 10534451 INDEL_GP36_2008a_197636_1 2008.05.18 2008.05.18 2003.12.05 2011.07.08 137 GMI 3035 NC_000005.9:g.140067689_140067698delAAACAAAACA;NG_032158.1:g.8274_8283delTGTTTTGTTT;NM_001258040.1:c.180+2742_180+2751delTGTTTTGTTT;NM_001258041.1:c.180+2742_180+2751delTGTTTTGTTT;NM_001258042.1:c.180+2742_180+2751delTGTTTTGTTT;NM_002109.4:c.180+2742_180+2751delTGTTTTGTTT 288661746 144998196 GMI_AK_INDEL_404099 2010.12.23 2011.12.25 2011.05.09 2012.11.28 137 GMI 3035 NC_000005.9:g.140067689_140067703delAAACAAAACAAAACA;NG_032158.1:g.8269_8283delTGTTTTGTTTTGTTT;NM_001258040.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258041.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258042.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_002109.4:c.180+2737_180+2751delTGTTTTGTTTTGTTT 288661747 145769024 GMI_AK_INDEL_404100 2010.12.23 2011.12.25 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067689_140067703delAAACAAAACAAAACA;NG_032158.1:g.8269_8283delTGTTTTGTTTTGTTT;NM_001258040.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258041.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258042.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_002109.4:c.180+2737_180+2751delTGTTTTGTTTTGTTT 326725753 145769024 JPTCHB_chr5_140047872_indel 2011.03.12 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067689_140067698delAAACAAAACA;NG_032158.1:g.8274_8283delTGTTTTGTTT;NM_001258040.1:c.180+2742_180+2751delTGTTTTGTTT;NM_001258041.1:c.180+2742_180+2751delTGTTTTGTTT;NM_001258042.1:c.180+2742_180+2751delTGTTTTGTTT;NM_002109.4:c.180+2742_180+2751delTGTTTTGTTT 326770075 144998196 CEU_chr5_140047872_indel 2011.03.12 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067689_140067703delAAACAAAACAAAACA;NG_032158.1:g.8269_8283delTGTTTTGTTTTGTTT;NM_001258040.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258041.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_001258042.1:c.180+2737_180+2751delTGTTTTGTTTTGTTT;NM_002109.4:c.180+2737_180+2751delTGTTTTGTTTTGTTT 326998938 145769024 YRI_chr5_140047872_indel 2011.03.12 2011.04.02 2011.05.09 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140067691_140067700delACAAAACAAA;NG_032158.1:g.8272_8281delTTTGTTTTGT;NM_001258040.1:c.180+2740_180+2749delTTTGTTTTGT;NM_001258041.1:c.180+2740_180+2749delTTTGTTTTGT;NM_001258042.1:c.180+2740_180+2749delTTTGTTTTGT;NM_002109.4:c.180+2740_180+2749delTTTGTTTTGT 101309468 68038188 INDEL_GP36_2008a_1882350_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140067691_140067700delACAAAACAAA;NG_032158.1:g.8272_8281delTTTGTTTTGT;NM_001258040.1:c.180+2740_180+2749delTTTGTTTTGT;NM_001258041.1:c.180+2740_180+2749delTTTGTTTTGT;NM_001258042.1:c.180+2740_180+2749delTTTGTTTTGT;NM_002109.4:c.180+2740_180+2749delTTTGTTTTGT 101309472 68038188 INDEL_GP36_2008a_1882350_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 HGSV 3035 NC_000005.9:g.140067692_140067701delCAAAACAAAA;NG_032158.1:g.8271_8280delTTTTGTTTTG;NM_001258040.1:c.180+2739_180+2748delTTTTGTTTTG;NM_001258041.1:c.180+2739_180+2748delTTTTGTTTTG;NM_001258042.1:c.180+2739_180+2748delTTTTGTTTTG;NM_002109.4:c.180+2739_180+2748delTTTTGTTTTG 79715478 59554063 Cor18507_DIV_20070510.chr5_140047905-140047916_1 2007.11.23 2007.11.23 2007.12.15 2011.07.08 137 HGSV 3035 NC_000005.9:g.140067692_140067701delCAAAACAAAA;NG_032158.1:g.8271_8280delTTTTGTTTTG;NM_001258040.1:c.180+2739_180+2748delTTTTGTTTTG;NM_001258041.1:c.180+2739_180+2748delTTTTGTTTTG;NM_001258042.1:c.180+2739_180+2748delTTTTGTTTTG;NM_002109.4:c.180+2739_180+2748delTTTTGTTTTG 79867540 59554063 Cor18507_DIV_20070510.chr5_140047905-140047916_2 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140067693delA;NC_000005.9:g.140067693delAinsAAAAC;NG_032158.1:g.8279delT;NG_032158.1:g.8279delTinsGTTTT;NM_001258040.1:c.180+2747delT;NM_001258040.1:c.180+2747delTinsGTTTT;NM_001258041.1:c.180+2747delT;NM_001258041.1:c.180+2747delTinsGTTTT;NM_001258042.1:c.180+2747delT;NM_001258042.1:c.180+2747delTinsGTTTT;NM_002109.4:c.180+2747delT;NM_002109.4:c.180+2747delTinsGTTTT 14950233 10534452 INDEL_GP34_WGS_27037 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 DEVINE_LAB 3035 NC_000005.9:g.140067693delA;NC_000005.9:g.140067693delAinsAAAAC;NG_032158.1:g.8279delT;NG_032158.1:g.8279delTinsGTTTT;NM_001258040.1:c.180+2747delT;NM_001258040.1:c.180+2747delTinsGTTTT;NM_001258041.1:c.180+2747delT;NM_001258041.1:c.180+2747delTinsGTTTT;NM_001258042.1:c.180+2747delT;NM_001258042.1:c.180+2747delTinsGTTTT;NM_002109.4:c.180+2747delT;NM_002109.4:c.180+2747delTinsGTTTT 50127259 10534452 INDEL_GP35_WGS_339172 2006.01.24 2006.01.24 2003.12.05 2012.05.11 137 DEVINE_LAB 3035 NC_000005.9:g.140067693delA;NC_000005.9:g.140067693delAinsAAAAC;NG_032158.1:g.8279delT;NG_032158.1:g.8279delTinsGTTTT;NM_001258040.1:c.180+2747delT;NM_001258040.1:c.180+2747delTinsGTTTT;NM_001258041.1:c.180+2747delT;NM_001258041.1:c.180+2747delTinsGTTTT;NM_001258042.1:c.180+2747delT;NM_001258042.1:c.180+2747delTinsGTTTT;NM_002109.4:c.180+2747delT;NM_002109.4:c.180+2747delTinsGTTTT 99819513 10534452 INDEL_GP36_2007a_197637_0 2008.05.06 2008.05.06 2003.12.05 2012.05.11 137 DEVINE_LAB 3035 NC_000005.9:g.140067693delA;NC_000005.9:g.140067693delAinsAAAAC;NG_032158.1:g.8279delT;NG_032158.1:g.8279delTinsGTTTT;NM_001258040.1:c.180+2747delT;NM_001258040.1:c.180+2747delTinsGTTTT;NM_001258041.1:c.180+2747delT;NM_001258041.1:c.180+2747delTinsGTTTT;NM_001258042.1:c.180+2747delT;NM_001258042.1:c.180+2747delTinsGTTTT;NM_002109.4:c.180+2747delT;NM_002109.4:c.180+2747delTinsGTTTT 100583564 10534452 INDEL_GP36_2008a_2840739_0 2008.05.17 2008.05.17 2003.12.05 2012.05.11 137 HGSV 3035 NC_000005.9:g.140067731delA;NC_000005.9:g.140067731delAinsCAAAACAAAACAAAA;NG_032158.1:g.8241delT;NG_032158.1:g.8241delTinsTTTTGTTTTGTTTTG;NM_001258040.1:c.180+2709delT;NM_001258040.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_001258041.1:c.180+2709delT;NM_001258041.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_001258042.1:c.180+2709delT;NM_001258042.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_002109.4:c.180+2709delT;NM_002109.4:c.180+2709delTinsTTTTGTTTTGTTTTG 81478238 58606188 Cor19129_DIV_20070510.chr5_140047900-140047916_1 2007.11.30 2007.11.30 2007.12.15 2011.07.08 137 BCMHGSC_JDW 3035 NC_000005.9:g.140067731delA;NC_000005.9:g.140067731delAinsCAAAACAAAACAAAA;NG_032158.1:g.8241delT;NG_032158.1:g.8241delTinsTTTTGTTTTGTTTTG;NM_001258040.1:c.180+2709delT;NM_001258040.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_001258041.1:c.180+2709delT;NM_001258041.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_001258042.1:c.180+2709delT;NM_001258042.1:c.180+2709delTinsTTTTGTTTTGTTTTG;NM_002109.4:c.180+2709delT;NM_002109.4:c.180+2709delTinsTTTTGTTTTGTTTTG 103718879 58606188 JWB-4118370 2008.06.06 2009.05.11 2007.12.15 2011.07.08 137 KWOK 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 1010844 801186 OVLP-000804-190280 1.80e-01 2000.09.02 2006.10.25 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 3547045 801186 AC005369.1_47963 1.80e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 6790156 801186 NT_029289.7_1192110 1.80e-01 2003.02.13 2003.10.10 2000.10.05 2012.11.28 137 AFFY 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 66283234 801186 SNP_A-1803324 1.80e-01 2006.10.29 2007.08.14 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 74979657 801186 ILMN_Human_1M_rs801186 1.80e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 AFFY 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 75941409 801186 AFFY_6_1M_SNP_A-1803324 1.80e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 81438705 801186 KHS64890 1.80e-01 2007.11.30 2007.11.30 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 84540093 801186 Cor19129_SNV_20070510.chr5_140047962 1.80e-01 2007.12.07 2007.12.07 2000.10.05 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 93269123 801186 JWB-2047129 1.80e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 109460764 801186 CEU.trio.12.15.2008_1374533_chr5_140047962 1.80e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 116832978 801186 NA18507_000175751_NCBI36.1_chr5_140047962 1.80e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 143484034 801186 ENSSNP12926695 1.80e-01 2009.06.06 2009.06.06 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 156094164 801186 GMI_SNP_112828009 1.80e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 AFFY 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 169437506 801186 GenomeWideSNP_5_SNP_A-1803324 1.80e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 174668594 801186 Human1M-Duov3_B_rs801186-128_T_F_1513948284 1.80e-01 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 200937284 801186 BUSHMAN-chr5-140047961 1.80e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 206835493 801186 BCM_CMT_1011-1078549 1.80e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 221997156 801186 pilot_1_YRI_3806839_chr5_140047962 1.80e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 233171053 801186 pilot_1_CEU_2775682_chr5_140047962 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 240287748 801186 pilot_1_CHB+JPT_2172825_chr5_140047962 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 253846443 801186 SNP140213_5_140047962 1.80e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 278502609 801186 GMI_AK_SNP_2822848 1.80e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140067778T>C;NG_032158.1:g.8194A>G;NM_001258040.1:c.180+2662A>G;NM_001258041.1:c.180+2662A>G;NM_001258042.1:c.180+2662A>G;NM_002109.4:c.180+2662A>G 293471539 801186 SNP_2977897_chr5_140047962 1.80e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140067876C>T;NG_032158.1:g.8096G>A;NM_001258040.1:c.180+2564G>A;NM_001258041.1:c.180+2564G>A;NM_001258042.1:c.180+2564G>A;NM_002109.4:c.180+2564G>A 332841482 150874684 20100804_snps_4485018_chr5_140067876 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140067923G>A;NG_032158.1:g.8049C>T;NM_001258040.1:c.180+2517C>T;NM_001258041.1:c.180+2517C>T;NM_001258042.1:c.180+2517C>T;NM_002109.4:c.180+2517C>T 332841483 139362540 20100804_snps_4485019_chr5_140067923 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140067938A>T;NG_032158.1:g.8034T>A;NM_001258040.1:c.180+2502T>A;NM_001258041.1:c.180+2502T>A;NM_001258042.1:c.180+2502T>A;NM_002109.4:c.180+2502T>A 458427746 191532032 20101123_snps_4594976_chr5_140067938 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140068088C>G;NG_032158.1:g.7884G>C;NM_001258040.1:c.180+2352G>C;NM_001258041.1:c.180+2352G>C;NM_001258042.1:c.180+2352G>C;NM_002109.4:c.180+2352G>C 332841484 143011702 20100804_snps_4485020_chr5_140068088 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 1010843 702396 OVLP-000804-190279 1.80e-01 2000.09.02 2003.10.10 2000.10.04 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 1473653 702396 TSC0090633 1.80e-01 2002.09.19 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 3598337 702396 AC010687.6_205589 1.80e-01 2001.09.24 2003.10.10 2000.10.04 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 6790157 702396 NT_029289.7_1192440 1.80e-01 2003.02.13 2003.10.10 2000.10.04 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 11153654 702396 chr5.NT_029289.9_1231036 1.80e-01 2003.07.03 2006.10.25 2000.10.04 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 24145272 702396 afd4357136 1.80e-01 2004.08.21 2004.09.13 2000.10.04 2012.11.28 137 AFFY 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 66426156 702396 SNP_A-2153870 1.80e-01 2006.10.29 2007.08.14 2000.10.04 2012.11.28 137 AFFY 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 76195398 702396 AFFY_6_1M_SNP_A-2153870 1.80e-01 2007.08.30 2007.08.30 2000.10.04 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 81433378 702396 KHS59563 1.80e-01 2007.11.30 2007.11.30 2000.10.04 2012.11.28 137 HGSV 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 85574581 702396 Cor19129_SNV_20070510.chr5_140048292 1.80e-01 2007.12.09 2007.12.09 2000.10.04 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 93269125 702396 JWB-2047130 1.80e-01 2008.03.04 2008.03.04 2000.10.04 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 116832979 702396 NA18507_000175752_NCBI36.1_chr5_140048292 1.80e-01 2009.01.18 2009.01.18 2000.10.04 2012.11.28 137 GMI 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 156094170 702396 GMI_SNP_128661483 1.80e-01 2009.06.24 2009.06.24 2000.10.04 2012.11.28 137 AFFY 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 172770257 702396 GenomeWideSNP_5_SNP_A-2153870 1.80e-01 2009.10.02 2009.10.02 2000.10.04 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 206761880 702396 BCM_CMT_1011-1051072 1.80e-01 2010.03.18 2010.03.18 2000.10.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 210622422 702396 CEU.trio.3.2010_58330_chr5_140048292 1.80e-01 2010.03.29 2010.03.29 2000.10.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 221997157 702396 pilot_1_YRI_3806840_chr5_140048292 1.80e-01 2010.04.22 2010.04.22 2000.10.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 233171056 702396 pilot_1_CEU_2775685_chr5_140048292 1.80e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 240287749 702396 pilot_1_CHB+JPT_2172826_chr5_140048292 1.80e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 BL 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 253846448 702396 SNP140214_5_140048292 1.80e-01 2010.08.19 2010.08.19 2000.10.04 2012.11.28 137 GMI 3035 NC_000005.9:g.140068108C>G;NG_032158.1:g.7864G>C;NM_001258040.1:c.180+2332G>C;NM_001258041.1:c.180+2332G>C;NM_001258042.1:c.180+2332G>C;NM_002109.4:c.180+2332G>C 278502610 702396 GMI_AK_SNP_2822849 1.80e-01 2010.12.16 2010.12.16 2000.10.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068171A>G;NG_032158.1:g.7801T>C;NM_001258040.1:c.180+2269T>C;NM_001258041.1:c.180+2269T>C;NM_001258042.1:c.180+2269T>C;NM_002109.4:c.180+2269T>C 332841485 146159952 20100804_snps_4485021_chr5_140068171 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140068226G>A;NG_032158.1:g.7746C>T;NM_001258040.1:c.180+2214C>T;NM_001258041.1:c.180+2214C>T;NM_001258042.1:c.180+2214C>T;NM_002109.4:c.180+2214C>T 458427747 182498374 20101123_snps_4594977_chr5_140068226 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 3035 NC_000005.9:g.140068293A>T;NG_032158.1:g.7679T>A;NM_001258040.1:c.180+2147T>A;NM_001258041.1:c.180+2147T>A;NM_001258042.1:c.180+2147T>A;NM_002109.4:c.180+2147T>A 200937288 112957918 BUSHMAN-chr5-140048476 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140068302A>G;NG_032158.1:g.7670T>C;NM_001258040.1:c.180+2138T>C;NM_001258041.1:c.180+2138T>C;NM_001258042.1:c.180+2138T>C;NM_002109.4:c.180+2138T>C 221997158 114970855 pilot_1_YRI_3806841_chr5_140048486 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140068352T>G;NG_032158.1:g.7620A>C;NM_001258040.1:c.180+2088A>C;NM_001258041.1:c.180+2088A>C;NM_001258042.1:c.180+2088A>C;NM_002109.4:c.180+2088A>C 332841486 140005970 20100804_snps_4485022_chr5_140068352 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 10231319 6880190 chr5.NT_029289.9_1231475 1.65e-02 2003.06.29 2006.10.25 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 74975096 6880190 ILMN_Human_1M_rs6880190 1.65e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 AFFY 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 76728758 6880190 AFFY_6_1M_SNP_A-8590167 1.65e-02 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 113346593 6880190 NA19240_2008_12_16_1234898_chr5_140048731 1.65e-02 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 116832980 6880190 NA18507_000175753_NCBI36.1_chr5_140048731 1.65e-02 2009.01.18 2009.01.18 2003.07.11 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 119530404 6880190 KHS1692651 1.65e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 165928914 6880190 NA19240_36_chr5_140048731 1.65e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 174152035 6880190 Human1M-Duov3_B_rs6880190-128_B_F_1513945418 1.65e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 200937292 6880190 BUSHMAN-chr5-140048730 1.65e-02 2010.03.07 2010.03.07 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068547T>C;NG_032158.1:g.7425A>G;NM_001258040.1:c.180+1893A>G;NM_001258041.1:c.180+1893A>G;NM_001258042.1:c.180+1893A>G;NM_002109.4:c.180+1893A>G 221997159 6880190 pilot_1_YRI_3806842_chr5_140048731 1.65e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140068670T>A;NC_000005.9:g.140068670delT;NG_032158.1:g.7302A>T;NG_032158.1:g.7302delA;NM_001258040.1:c.180+1770A>T;NM_001258040.1:c.180+1770delA;NM_001258041.1:c.180+1770A>T;NM_001258041.1:c.180+1770delA;NM_001258042.1:c.180+1770A>T;NM_001258042.1:c.180+1770delA;NM_002109.4:c.180+1770A>T;NM_002109.4:c.180+1770delA 15151986 10713463 INDEL_GP34_WGS_250017 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140068745G>T;NG_032158.1:g.7227C>A;NM_001258040.1:c.180+1695C>A;NM_001258041.1:c.180+1695C>A;NM_001258042.1:c.180+1695C>A;NM_002109.4:c.180+1695C>A 458427748 187729939 20101123_snps_4594978_chr5_140068745 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 3035 NC_000005.9:g.140068759A>T;NG_032158.1:g.7213T>A;NM_001258040.1:c.180+1681T>A;NM_001258041.1:c.180+1681T>A;NM_001258042.1:c.180+1681T>A;NM_002109.4:c.180+1681T>A 5760876 4334930 NT_034777.1_1186896 2003.01.11 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068822G>A;NG_032158.1:g.7150C>T;NM_001258040.1:c.180+1618C>T;NM_001258041.1:c.180+1618C>T;NM_001258042.1:c.180+1618C>T;NM_002109.4:c.180+1618C>T 458427749 193103291 20101123_snps_4594979_chr5_140068822 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 1010842 801185 OVLP-000804-190278 4.19e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 2151959 801185 TSC0514111 4.19e-01 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 3598336 801185 AC010687.6_204828 4.19e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 5184968 801185 TSC1076481 4.19e-01 2002.09.20 2004.04.07 2000.10.05 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 5402812 801185 TSC1430577 4.19e-01 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 5402825 801185 TSC1430561 4.19e-01 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 10223691 801185 chr5.NT_029289.9_1231797 4.19e-01 2003.06.29 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 11727152 801185 chr5.NT_029289.9_1231797 4.19e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 14814755 801185 NT_029289.10_1231796 4.19e-01 2003.11.12 2003.11.22 2000.10.05 2012.11.28 137 ABI 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 42538533 801185 hCV8737806 4.19e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 75184157 801185 ILMN_Human_1M_rs801185 4.19e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 85638905 801185 Cor19129_SNV_20070510.chr5_140049053 4.19e-01 2007.12.09 2007.12.09 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 85804614 801185 Cor18517_SNV_20070510.chr5_140049053 4.19e-01 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 109460766 801185 CEU.trio.12.15.2008_1374534_chr5_140049053 4.19e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 116832981 801185 NA18507_000175754_NCBI36.1_chr5_140049053 4.19e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 119368536 801185 KHS1530783 4.19e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 156094177 801185 GMI_SNP_28401064 4.19e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 162714288 801185 NA07022_36_chr5_140049053 4.19e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 165928917 801185 NA19240_36_chr5_140049053 4.19e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 167145683 801185 NA20431_36_chr5_140049053 4.19e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 174668587 801185 Human1M-Duov3_B_rs801185-128_T_R_1514155559 4.19e-01 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 200937296 801185 BUSHMAN-chr5-140049052 4.19e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 207075187 801185 BCM_CMT_1011-1157462 4.19e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 211724317 801185 YRI.trio.3.2010_551332_chr5_140049053 4.19e-01 2010.03.30 2010.03.30 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 221997160 801185 pilot_1_YRI_3806843_chr5_140049053 4.19e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 233171057 801185 pilot_1_CEU_2775686_chr5_140049053 4.19e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 240287750 801185 pilot_1_CHB+JPT_2172827_chr5_140049053 4.19e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 253846451 801185 SNP140215_5_140049053 4.19e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 278502611 801185 GMI_AK_SNP_2822850 4.19e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140068869A>G;NG_032158.1:g.7103T>C;NM_001258040.1:c.180+1571T>C;NM_001258041.1:c.180+1571T>C;NM_001258042.1:c.180+1571T>C;NM_002109.4:c.180+1571T>C 293471540 801185 SNP_2977898_chr5_140049053 4.19e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140068971delA;NG_032158.1:g.7001delT;NM_001258040.1:c.180+1469delT;NM_001258041.1:c.180+1469delT;NM_001258042.1:c.180+1469delT;NM_002109.4:c.180+1469delT 288661748 148921342 GMI_AK_INDEL_404101 2010.12.23 2011.12.25 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068971delA;NG_032158.1:g.7001delT;NM_001258040.1:c.180+1469delT;NM_001258041.1:c.180+1469delT;NM_001258042.1:c.180+1469delT;NM_002109.4:c.180+1469delT 326725754 148921342 JPTCHB_chr5_140049154_indel 2011.03.12 2011.04.02 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140068996_140069000delCTATA;NG_032158.1:g.6972_6976delTATAG;NM_001258040.1:c.180+1440_180+1444delTATAG;NM_001258041.1:c.180+1440_180+1444delTATAG;NM_001258042.1:c.180+1440_180+1444delTATAG;NM_002109.4:c.180+1440_180+1444delTATAG 499287408 201253106 20110316_indels_chr5_140068995_140068999 8.20e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069000A>G;NG_032158.1:g.6972T>C;NM_001258040.1:c.180+1440T>C;NM_001258041.1:c.180+1440T>C;NM_001258042.1:c.180+1440T>C;NM_002109.4:c.180+1440T>C 458427750 185537686 20101123_snps_4594980_chr5_140069000 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140069011T>A;NG_032158.1:g.6961A>T;NM_001258040.1:c.180+1429A>T;NM_001258041.1:c.180+1429A>T;NM_001258042.1:c.180+1429A>T;NM_002109.4:c.180+1429A>T 458427751 189103453 20101123_snps_4594981_chr5_140069011 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 3035 NC_000005.9:g.140069037delC;NG_032158.1:g.6935delG;NM_001258040.1:c.180+1403delG;NM_001258041.1:c.180+1403delG;NM_001258042.1:c.180+1403delG;NM_002109.4:c.180+1403delG 288661749 201614070 GMI_AK_INDEL_404102 2010.12.23 2011.12.25 2012.05.04 2012.05.04 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 15196112 11318345 INDEL_GP34_WGS_310263 4.02e-01 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 42416258 11318345 hCV32959339 4.02e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 80288017 11318345 Cor18507_DIV_20070510.chr5_140049224-140049226_1 4.02e-01 2007.11.25 2007.11.25 2004.02.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 81561926 11318345 Cor18956_DIV_20070510.chr5_140049224-140049226_1 4.02e-01 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 81582261 11318345 Cor19129_DIV_20070510.chr5_140049224-140049226_1 4.02e-01 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 81624447 11318345 Cor19129_DIV_20070510.chr5_140049224-140049226_2 4.02e-01 2007.12.01 2007.12.01 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101100768 11318345 INDEL_GP36_2008a_1317688_0 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101100771 11318345 INDEL_GP36_2008a_1317688_1 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101100773 11318345 INDEL_GP36_2008a_1317688_2 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101100777 11318345 INDEL_GP36_2008a_1317688_3 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101100781 11318345 INDEL_GP36_2008a_1317688_4 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101229520 11318345 INDEL_GP36_2008a_759500_0 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 101229522 11318345 INDEL_GP36_2008a_759500_1 4.02e-01 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 155006150 11318345 GMI_INDEL-60865 4.02e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 193826408 11318345 BUSHMAN-chr5-140049221-140049222 4.02e-01 2010.02.17 2010.02.17 2004.02.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140069038A>C;NG_032158.1:g.6934T>G;NM_001258040.1:c.180+1402T>G;NM_001258041.1:c.180+1402T>G;NM_001258042.1:c.180+1402T>G;NM_002109.4:c.180+1402T>G 278502612 201906086 GMI_AK_SNP_2822851 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 288661750 11318345 GMI_AK_INDEL_404103 4.02e-01 2010.12.23 2011.12.25 2004.02.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 295247699 11318345 DIP_685403_chr5_140049222 4.02e-01 2011.01.23 2011.01.23 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 326725757 11318345 JPTCHB_chr5_140049221_indel 4.02e-01 2011.03.12 2011.04.02 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 326770078 11318345 CEU_chr5_140049221_indel 4.02e-01 2011.03.12 2011.04.02 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 326998940 11318345 YRI_chr5_140049221_indel 4.02e-01 2011.03.12 2011.04.02 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069038delA;NG_032158.1:g.6934delT;NM_001258040.1:c.180+1402delT;NM_001258041.1:c.180+1402delT;NM_001258042.1:c.180+1402delT;NM_002109.4:c.180+1402delT 499287412 11318345 20110316_indels_chr5_140069037_140069037 4.02e-01 2012.03.19 2012.03.19 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 3035 NC_000005.9:g.140069058T>G;NG_032158.1:g.6914A>C;NM_001258040.1:c.180+1382A>C;NM_001258041.1:c.180+1382A>C;NM_001258042.1:c.180+1382A>C;NM_002109.4:c.180+1382A>C 98769749 71583608 1103654239264 2008.04.01 2008.04.01 2009.02.13 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140069252T>G;NG_032158.1:g.6720A>C;NM_001258040.1:c.180+1188A>C;NM_001258041.1:c.180+1188A>C;NM_001258042.1:c.180+1188A>C;NM_002109.4:c.180+1188A>C 332841487 143569397 20100804_snps_4485023_chr5_140069252 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140069329T>C;NG_032158.1:g.6643A>G;NM_001258040.1:c.180+1111A>G;NM_001258041.1:c.180+1111A>G;NM_001258042.1:c.180+1111A>G;NM_002109.4:c.180+1111A>G 332841488 146801682 20100804_snps_4485024_chr5_140069329 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140069380A>C;NG_032158.1:g.6592T>G;NM_001258040.1:c.180+1060T>G;NM_001258041.1:c.180+1060T>G;NM_001258042.1:c.180+1060T>G;NM_002109.4:c.180+1060T>G 332841489 148532075 20100804_snps_4485025_chr5_140069380 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 3035 NC_000005.9:g.140069607A>G;NG_032158.1:g.6365T>C;NM_001258040.1:c.180+833T>C;NM_001258041.1:c.180+833T>C;NM_001258042.1:c.180+833T>C;NM_002109.4:c.180+833T>C 253846456 138414368 SNP140216_5_140049791 1.14e-02 2010.08.19 2010.08.19 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140069607A>G;NG_032158.1:g.6365T>C;NM_001258040.1:c.180+833T>C;NM_001258041.1:c.180+833T>C;NM_001258042.1:c.180+833T>C;NM_002109.4:c.180+833T>C 332841490 138414368 20100804_snps_4485026_chr5_140069607 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140069807C>T;NG_032158.1:g.6165G>A;NM_001258040.1:c.180+633G>A;NM_001258041.1:c.180+633G>A;NM_001258042.1:c.180+633G>A;NM_002109.4:c.180+633G>A 200937300 113992989 BUSHMAN-chr5-140049990 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 SC_JCM 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 3598335 2563307 AC010687.6_203854 3.97e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 11699641 2563307 chr5.NT_029289.9_1232771 3.97e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 81142783 2563307 Cor18555_SNV_20070510.chr5_140050027 3.97e-01 2007.11.28 2007.11.28 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 81757730 2563307 Cor18956_SNV_20070510.chr5_140050027 3.97e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 84281063 2563307 Cor19129_SNV_20070510.chr5_140050027 3.97e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 162714292 2563307 NA07022_36_chr5_140050027 3.97e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 167145689 2563307 NA20431_36_chr5_140050027 3.97e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 200937304 2563307 BUSHMAN-chr5-140050026 3.97e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 253846460 2563307 SNP140217_5_140050027 3.97e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 278502613 2563307 GMI_AK_SNP_2822852 3.97e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 293471541 2563307 SNP_2977899_chr5_140050027 3.97e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140069843C>T;NG_032158.1:g.6129G>A;NM_001258040.1:c.180+597G>A;NM_001258041.1:c.180+597G>A;NM_001258042.1:c.180+597G>A;NM_002109.4:c.180+597G>A 332841491 2563307 20100804_snps_4485027_chr5_140069843 3.97e-01 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140069946A>G;NG_032158.1:g.6026T>C;NM_001258040.1:c.180+494T>C;NM_001258041.1:c.180+494T>C;NM_001258042.1:c.180+494T>C;NM_002109.4:c.180+494T>C 23026769 13359823 WIBR_S224_SNPS_200403.chr5.NT_029289.10_1232873 2004.03.22 2004.03.22 2004.04.05 2011.07.08 137 SC_JCM 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 3598334 2563306 AC010687.6_203680 4.20e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 79949719 2563306 Cor18507_SNV_20070510.chr5_140050201 4.20e-01 2007.11.24 2007.11.24 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 83053453 2563306 Cor18555_SNV_20070510.chr5_140050201 4.20e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 83351068 2563306 Cor18956_SNV_20070510.chr5_140050201 4.20e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 85432671 2563306 Cor19129_SNV_20070510.chr5_140050201 4.20e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 93269127 2563306 JWB-2047131 4.20e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 109460772 2563306 CEU.trio.12.15.2008_1374535_chr5_140050201 4.20e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 113346598 2563306 NA19240_2008_12_16_1234899_chr5_140050201 4.20e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 116832982 2563306 NA18507_000175755_NCBI36.1_chr5_140050201 4.20e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 143484037 2563306 ENSSNP12926696 4.20e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 156094184 2563306 GMI_SNP_67649694 4.20e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 162714299 2563306 NA07022_36_chr5_140050201 4.20e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 165928920 2563306 NA19240_36_chr5_140050201 4.20e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 167145699 2563306 NA20431_36_chr5_140050201 4.20e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 200937308 2563306 BUSHMAN-chr5-140050200 4.20e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 207079670 2563306 BCM_CMT_1011-1158967 4.20e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 221997161 2563306 pilot_1_YRI_3806844_chr5_140050201 4.20e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 233171058 2563306 pilot_1_CEU_2775687_chr5_140050201 4.20e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 240287751 2563306 pilot_1_CHB+JPT_2172828_chr5_140050201 4.20e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 253846463 2563306 SNP140218_5_140050201 4.20e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 278502614 2563306 GMI_AK_SNP_2822853 4.20e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140070017C>T;NG_032158.1:g.5955G>A;NM_001258040.1:c.180+423G>A;NM_001258041.1:c.180+423G>A;NM_001258042.1:c.180+423G>A;NM_002109.4:c.180+423G>A 293471542 2563306 SNP_2977900_chr5_140050201 4.20e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 KWOK 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 1067581 813897 OVLP-000804-190276 4.20e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 3547044 813897 AC005369.1_45713 4.20e-01 2001.09.24 2003.10.10 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 79707753 813897 Cor18507_SNV_20070510.chr5_140050213 4.20e-01 2007.11.23 2007.11.23 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 82658752 813897 Cor18555_SNV_20070510.chr5_140050213 4.20e-01 2007.12.03 2007.12.03 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 82963751 813897 Cor18956_SNV_20070510.chr5_140050213 4.20e-01 2007.12.04 2007.12.04 2000.10.05 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 85178853 813897 Cor19129_SNV_20070510.chr5_140050213 4.20e-01 2007.12.08 2007.12.08 2000.10.05 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 93269129 813897 JWB-2047132 4.20e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 113346605 813897 NA19240_2008_12_16_1234900_chr5_140050213 4.20e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 116832983 813897 NA18507_000175756_NCBI36.1_chr5_140050213 4.20e-01 2009.01.18 2009.01.18 2000.10.05 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 143484042 813897 ENSSNP12926697 4.20e-01 2009.06.06 2009.06.06 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 156094190 813897 GMI_SNP_67866300 4.20e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 162714306 813897 NA07022_36_chr5_140050213 4.20e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 165928922 813897 NA19240_36_chr5_140050213 4.20e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 167145705 813897 NA20431_36_chr5_140050213 4.20e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 200937312 813897 BUSHMAN-chr5-140050212 4.20e-01 2010.03.07 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 207171294 813897 BCM_CMT_1011-1189468 4.20e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 210622425 813897 CEU.trio.3.2010_58331_chr5_140050213 4.20e-01 2010.03.29 2010.03.29 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 221997162 813897 pilot_1_YRI_3806845_chr5_140050213 4.20e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 233171059 813897 pilot_1_CEU_2775688_chr5_140050213 4.20e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 240287752 813897 pilot_1_CHB+JPT_2172829_chr5_140050213 4.20e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 253846467 813897 SNP140219_5_140050213 4.20e-01 2010.08.19 2010.08.19 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 278502615 813897 GMI_AK_SNP_2822854 4.20e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 3035 NC_000005.9:g.140070029T>C;NG_032158.1:g.5943A>G;NM_001258040.1:c.180+411A>G;NM_001258041.1:c.180+411A>G;NM_001258042.1:c.180+411A>G;NM_002109.4:c.180+411A>G 293471543 813897 SNP_2977901_chr5_140050213 4.20e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 GMI 3035 NC_000005.9:g.140070043A>C;NG_032158.1:g.5929T>G;NM_001258040.1:c.180+397T>G;NM_001258041.1:c.180+397T>G;NM_001258042.1:c.180+397T>G;NM_002109.4:c.180+397T>G 278502616 200241357 GMI_AK_SNP_2822855 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 3035 NC_000005.9:g.140070044C>A;NG_032158.1:g.5928G>T;NM_001258040.1:c.180+396G>T;NM_001258041.1:c.180+396G>T;NM_001258042.1:c.180+396G>T;NM_002109.4:c.180+396G>T 278502617 201602409 GMI_AK_SNP_2822856 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 3035 NC_000005.9:g.140070034_140070035insA;NG_032158.1:g.5937_5938insT;NM_001258040.1:c.180+405_180+406insT;NM_001258041.1:c.180+405_180+406insT;NM_001258042.1:c.180+405_180+406insT;NM_002109.4:c.180+405_180+406insT 326725761 146205151 JPTCHB_chr5_140050228_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070034_140070035insA;NG_032158.1:g.5937_5938insT;NM_001258040.1:c.180+405_180+406insT;NM_001258041.1:c.180+405_180+406insT;NM_001258042.1:c.180+405_180+406insT;NM_002109.4:c.180+405_180+406insT 326770081 146205151 CEU_chr5_140050228_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070034_140070035insA;NG_032158.1:g.5937_5938insT;NM_001258040.1:c.180+405_180+406insT;NM_001258041.1:c.180+405_180+406insT;NM_001258042.1:c.180+405_180+406insT;NM_002109.4:c.180+405_180+406insT 326998943 146205151 YRI_chr5_140050228_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 HGSV 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 80192604 60916571 Cor18507_DIV_20070510.chr5_140050235-140050236_1 2007.11.25 2007.11.25 2007.12.16 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 81893543 60916571 Cor18956_DIV_20070510.chr5_140050235-140050236_1 2007.12.01 2007.12.01 2007.12.16 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 82331257 60916571 Cor18555_DIV_20070510.chr5_140050235-140050236_1 2007.12.02 2007.12.02 2007.12.16 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 101080400 60916571 INDEL_GP36_2008a_2037360_0 2008.05.17 2008.05.17 2007.12.16 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 101080403 60916571 INDEL_GP36_2008a_2037360_1 2008.05.17 2008.05.17 2007.12.16 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 101883895 60916571 INDEL_GP36_2008a_2776398_0 2008.05.18 2008.05.18 2007.12.16 2012.11.28 137 GMI 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 288661751 60916571 GMI_AK_INDEL_404104 2010.12.23 2011.12.25 2007.12.16 2012.11.28 137 PJP 3035 NC_000005.9:g.140070045_140070046insA;NG_032158.1:g.5926_5927insT;NM_001258040.1:c.180+394_180+395insT;NM_001258041.1:c.180+394_180+395insT;NM_001258042.1:c.180+394_180+395insT;NM_002109.4:c.180+394_180+395insT 295247700 60916571 DIP_685404_chr5_140050235 2011.01.23 2011.01.23 2007.12.16 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070074A>G;NG_032158.1:g.5898T>C;NM_001258040.1:c.180+366T>C;NM_001258041.1:c.180+366T>C;NM_001258042.1:c.180+366T>C;NM_002109.4:c.180+366T>C 332841493 147001782 20100804_snps_4485029_chr5_140070074 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070075A>C;NG_032158.1:g.5897T>G;NM_001258040.1:c.180+365T>G;NM_001258041.1:c.180+365T>G;NM_001258042.1:c.180+365T>G;NM_002109.4:c.180+365T>G 458427752 192090865 20101123_snps_4594982_chr5_140070075 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 81645066 59925457 Cor18555_SNV_20070510.chr5_140050288 2.17e-01 2007.12.01 2007.12.01 2007.12.15 2012.11.28 137 HGSV 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 82084708 59925457 Cor18956_SNV_20070510.chr5_140050288 2.17e-01 2007.12.02 2007.12.02 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 109460783 59925457 CEU.trio.12.15.2008_1374538_chr5_140050288 2.17e-01 2008.12.16 2008.12.16 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 162714311 59925457 NA07022_36_chr5_140050288 2.17e-01 2009.09.29 2009.09.29 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 167145711 59925457 NA20431_36_chr5_140050288 2.17e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 206779988 59925457 BCM_CMT_1011-1059840 2.17e-01 2010.03.18 2010.03.18 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 221997163 59925457 pilot_1_YRI_3806846_chr5_140050288 2.17e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 233171061 59925457 pilot_1_CEU_2775690_chr5_140050288 2.17e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 240287753 59925457 pilot_1_CHB+JPT_2172830_chr5_140050288 2.17e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 278502618 59925457 GMI_AK_SNP_2822857 2.17e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 PJP 3035 NC_000005.9:g.140070104C>T;NG_032158.1:g.5868G>A;NM_001258040.1:c.180+336G>A;NM_001258041.1:c.180+336G>A;NM_001258042.1:c.180+336G>A;NM_002109.4:c.180+336G>A 293471544 59925457 SNP_2977902_chr5_140050288 2.17e-01 2011.01.21 2011.01.21 2007.12.15 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 11707825 7706544 chr5.NT_029289.9_1233076 1.79e-02 2003.07.04 2006.10.25 2003.07.11 2012.11.28 137 AFFY 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 66066741 7706544 SNP_A-1872433 1.79e-02 2006.10.27 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 75032161 7706544 ILMN_Human_1M_rs7706544 1.79e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 AFFY 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 75991684 7706544 AFFY_6_1M_SNP_A-1872433 1.79e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 82476619 7706544 KHS261218 1.79e-02 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 160905785 7706544 HumanOmni1-Quad_v1-0_B_rs7706544-128_B_F_1514016671 1.79e-02 2009.08.07 2009.10.05 2003.07.11 2012.11.28 137 AFFY 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 170112034 7706544 GenomeWideSNP_5_SNP_A-1872433 1.79e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 174505744 7706544 Human1M-Duov3_B_rs7706544-128_B_F_1514016671 1.79e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 211724319 7706544 YRI.trio.3.2010_551333_chr5_140050332 1.79e-02 2010.03.30 2010.03.30 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 221997164 7706544 pilot_1_YRI_3806847_chr5_140050332 1.79e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 481649195 7706544 HumanOmni2.5-4v1_B_rs7706544-128_B_F_1514016671 1.79e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 481679724 7706544 HumanOmniExpress-12v1_C_rs7706544-131_B_F_1857359425 1.79e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 482646253 7706544 HumanOmni1-Quad_v1-0_C_rs7706544-131_B_F_1865450075 1.79e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070148C>T;NG_032158.1:g.5824G>A;NM_001258040.1:c.180+292G>A;NM_001258041.1:c.180+292G>A;NM_001258042.1:c.180+292G>A;NM_002109.4:c.180+292G>A 485619313 7706544 HumanOmni2.5-4v1_D_rs7706544-131_B_F_1857359425 1.79e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070188A>G;NG_032158.1:g.5784T>C;NM_001258040.1:c.180+252T>C;NM_001258041.1:c.180+252T>C;NM_001258042.1:c.180+252T>C;NM_002109.4:c.180+252T>C 332841494 147637634 20100804_snps_4485030_chr5_140070188 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070292C>T;NG_032158.1:g.5680G>A;NM_001258040.1:c.180+148G>A;NM_001258041.1:c.180+148G>A;NM_001258042.1:c.180+148G>A;NM_002109.4:c.180+148G>A 332841495 142305093 20100804_snps_4485031_chr5_140070292 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 EXOME_CHIP 3035 NC_000005.9:g.140070465T>G;NG_032158.1:g.5507A>C;NM_001258040.1:c.155A>C;NM_001258041.1:c.155A>C;NM_001258042.1:c.155A>C;NM_002109.4:c.155A>C;NP_001244969.1:p.Gln52Pro;NP_001244970.1:p.Gln52Pro;NP_001244971.1:p.Gln52Pro;NP_002100.2:p.Gln52Pro 491371640 201398055 nonsyn_87867_chr_5_140070465 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 CGAP-GAI 3035 NC_000005.9:g.140070493C>T;NG_032158.1:g.5479G>A;NM_001258040.1:c.127G>A;NM_001258041.1:c.127G>A;NM_001258042.1:c.127G>A;NM_002109.4:c.127G>A;NP_001244969.1:p.Ala43Thr;NP_001244970.1:p.Ala43Thr;NP_001244971.1:p.Ala43Thr;NP_002100.2:p.Ala43Thr 16246768 11548125 1491536 2003.11.18 2003.11.22 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070493C>T;NG_032158.1:g.5479G>A;NM_001258040.1:c.127G>A;NM_001258041.1:c.127G>A;NM_001258042.1:c.127G>A;NM_002109.4:c.127G>A;NP_001244969.1:p.Ala43Thr;NP_001244970.1:p.Ala43Thr;NP_001244971.1:p.Ala43Thr;NP_002100.2:p.Ala43Thr 74976540 11548125 ILMN_Human_1M_rs11548125 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140070493C>T;NG_032158.1:g.5479G>A;NM_001258040.1:c.127G>A;NM_001258041.1:c.127G>A;NM_001258042.1:c.127G>A;NM_002109.4:c.127G>A;NP_001244969.1:p.Ala43Thr;NP_001244970.1:p.Ala43Thr;NP_001244971.1:p.Ala43Thr;NP_002100.2:p.Ala43Thr 119686543 11548125 KHS1808188 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070493C>T;NG_032158.1:g.5479G>A;NM_001258040.1:c.127G>A;NM_001258041.1:c.127G>A;NM_001258042.1:c.127G>A;NM_002109.4:c.127G>A;NP_001244969.1:p.Ala43Thr;NP_001244970.1:p.Ala43Thr;NP_001244971.1:p.Ala43Thr;NP_002100.2:p.Ala43Thr 171276927 11548125 Human1M-Duov3_B_rs11548125-120_B_R_1513920919 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070505G>A;NG_032158.1:g.5467C>T;NM_001258040.1:c.115C>T;NM_001258041.1:c.115C>T;NM_001258042.1:c.115C>T;NM_002109.4:c.115C>T;NP_001244969.1:p.Leu39=;NP_001244970.1:p.Leu39=;NP_001244971.1:p.Leu39=;NP_002100.2:p.Leu39= 488815582 201729757 20110521_exome_83654_chr5_140070505 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140070517C>T;NG_032158.1:g.5455G>A;NM_001258040.1:c.103G>A;NM_001258041.1:c.103G>A;NM_001258042.1:c.103G>A;NM_002109.4:c.103G>A;NP_001244969.1:p.Val35Met;NP_001244970.1:p.Val35Met;NP_001244971.1:p.Val35Met;NP_002100.2:p.Val35Met 342189985 144588417 ESP2500-chr5-140070517 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140070517C>T;NG_032158.1:g.5455G>A;NM_001258040.1:c.103G>A;NM_001258041.1:c.103G>A;NM_001258042.1:c.103G>A;NM_002109.4:c.103G>A;NP_001244969.1:p.Val35Met;NP_001244970.1:p.Val35Met;NP_001244971.1:p.Val35Met;NP_002100.2:p.Val35Met 491371641 144588417 nonsyn_87868_chr_5_140070517 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140070517C>T;NG_032158.1:g.5455G>A;NM_001258040.1:c.103G>A;NM_001258041.1:c.103G>A;NM_001258042.1:c.103G>A;NM_002109.4:c.103G>A;NP_001244969.1:p.Val35Met;NP_001244970.1:p.Val35Met;NP_001244971.1:p.Val35Met;NP_002100.2:p.Val35Met 491873378 144588417 SNV-chr5-140050701 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070709C>T;NG_032158.1:g.5263G>A;NM_001258040.1:c.90+91G>A;NM_001258041.1:c.90+91G>A;NM_001258042.1:c.90+91G>A;NM_002109.4:c.90+91G>A 458427753 184098206 20101123_snps_4594983_chr5_140070709 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140070719T>C;NG_032158.1:g.5253A>G;NM_001258040.1:c.90+81A>G;NM_001258041.1:c.90+81A>G;NM_001258042.1:c.90+81A>G;NM_002109.4:c.90+81A>G 113346615 73273304 NA19240_2008_12_16_1234901_chr5_140050903 1.65e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 3035 NC_000005.9:g.140070719T>C;NG_032158.1:g.5253A>G;NM_001258040.1:c.90+81A>G;NM_001258041.1:c.90+81A>G;NM_001258042.1:c.90+81A>G;NM_002109.4:c.90+81A>G 116832984 73273304 NA18507_000175757_NCBI36.1_chr5_140050903 1.65e-02 2009.01.18 2009.01.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070719T>C;NG_032158.1:g.5253A>G;NM_001258040.1:c.90+81A>G;NM_001258041.1:c.90+81A>G;NM_001258042.1:c.90+81A>G;NM_002109.4:c.90+81A>G 165928926 73273304 NA19240_36_chr5_140050903 1.65e-02 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140070719T>C;NG_032158.1:g.5253A>G;NM_001258040.1:c.90+81A>G;NM_001258041.1:c.90+81A>G;NM_001258042.1:c.90+81A>G;NM_002109.4:c.90+81A>G 200937316 73273304 BUSHMAN-chr5-140050902 1.65e-02 2010.03.07 2010.03.07 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070719T>C;NG_032158.1:g.5253A>G;NM_001258040.1:c.90+81A>G;NM_001258041.1:c.90+81A>G;NM_001258042.1:c.90+81A>G;NM_002109.4:c.90+81A>G 221997165 73273304 pilot_1_YRI_3806848_chr5_140050903 1.65e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140070738A>G;NG_032158.1:g.5234T>C;NM_001258040.1:c.90+62T>C;NM_001258041.1:c.90+62T>C;NM_001258042.1:c.90+62T>C;NM_002109.4:c.90+62T>C 458427754 188490030 20101123_snps_4594984_chr5_140070738 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 3035 NC_000005.9:g.140070818C>T;NG_032158.1:g.5154G>A;NM_001258040.1:c.72G>A;NM_001258041.1:c.72G>A;NM_001258042.1:c.72G>A;NM_002109.4:c.72G>A;NP_001244969.1:p.Gln24=;NP_001244970.1:p.Gln24=;NP_001244971.1:p.Gln24=;NP_002100.2:p.Gln24= 342189986 148516171 ESP2500-chr5-140070818 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140070818C>T;NG_032158.1:g.5154G>A;NM_001258040.1:c.72G>A;NM_001258041.1:c.72G>A;NM_001258042.1:c.72G>A;NM_002109.4:c.72G>A;NP_001244969.1:p.Gln24=;NP_001244970.1:p.Gln24=;NP_001244971.1:p.Gln24=;NP_002100.2:p.Gln24= 491873379 148516171 SNV-chr5-140051002 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070850G>T;NG_032158.1:g.5122C>A;NM_001258040.1:c.40C>A;NM_001258041.1:c.40C>A;NM_001258042.1:c.40C>A;NM_002109.4:c.40C>A;NP_001244969.1:p.Gln14Lys;NP_001244970.1:p.Gln14Lys;NP_001244971.1:p.Gln14Lys;NP_002100.2:p.Gln14Lys 240287754 117579809 pilot_1_CHB+JPT_2172831_chr5_140051034 7.30e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070850G>T;NG_032158.1:g.5122C>A;NM_001258040.1:c.40C>A;NM_001258041.1:c.40C>A;NM_001258042.1:c.40C>A;NM_002109.4:c.40C>A;NP_001244969.1:p.Gln14Lys;NP_001244970.1:p.Gln14Lys;NP_001244971.1:p.Gln14Lys;NP_002100.2:p.Gln14Lys 490911588 117579809 20110521_exome_419386_chr5_140070850 7.30e-03 2012.02.21 2012.02.21 2010.07.15 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140070850G>T;NG_032158.1:g.5122C>A;NM_001258040.1:c.40C>A;NM_001258041.1:c.40C>A;NM_001258042.1:c.40C>A;NM_002109.4:c.40C>A;NP_001244969.1:p.Gln14Lys;NP_001244970.1:p.Gln14Lys;NP_001244971.1:p.Gln14Lys;NP_002100.2:p.Gln14Lys 491371642 117579809 nonsyn_87869_chr_5_140070850 7.30e-03 2012.03.05 2012.03.05 2010.07.15 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070875C>G;NG_032158.1:g.5097G>C;NM_001258040.1:c.15G>C;NM_001258041.1:c.15G>C;NM_001258042.1:c.15G>C;NM_002109.4:c.15G>C;NP_001244969.1:p.Ala5=;NP_001244970.1:p.Ala5=;NP_001244971.1:p.Ala5=;NP_002100.2:p.Ala5= 488815584 200913921 20110521_exome_83655_chr5_140070875 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 161086299 78741041 HumanOmni1-Quad_v1-0_B_SNP5-140051060-128_T_R_1587505040 5.50e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 162714317 78741041 NA07022_36_chr5_140051060 5.50e-03 2009.09.29 2009.09.29 2009.12.01 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 233171062 78741041 pilot_1_CEU_2775691_chr5_140051060 5.50e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 342189987 78741041 ESP2500-chr5-140070876 5.50e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 479408410 78741041 HumanOmni1-Quad_v1-0_C_kgp5013564-0_T_R_1823346025 5.50e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 490911589 78741041 20110521_exome_419387_chr5_140070876 5.50e-03 2012.02.21 2012.02.21 2009.12.01 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 491371643 78741041 nonsyn_87870_chr_5_140070876 5.50e-03 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140070876G>T;NG_032158.1:g.5096C>A;NM_001258040.1:c.14C>A;NM_001258041.1:c.14C>A;NM_001258042.1:c.14C>A;NM_002109.4:c.14C>A;NP_001244969.1:p.Ala5Glu;NP_001244970.1:p.Ala5Glu;NP_001244971.1:p.Ala5Glu;NP_002100.2:p.Ala5Glu 491873380 78741041 SNV-chr5-140051060 5.50e-03 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 CLINSEQ_SNP 3035 NC_000005.9:g.140070898T>C;NG_032158.1:g.5074A>G;NM_001258040.1:c.-9A>G;NM_001258041.1:c.-9A>G;NM_001258042.1:c.-9A>G;NM_002109.4:c.-9A>G 491873381 200405156 SNV-chr5-140051082 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140070953G>A;NG_032158.1:g.5019C>T;NM_001258040.1:c.-64C>T;NM_001258041.1:c.-64C>T;NM_001258042.1:c.-64C>T;NM_002109.4:c.-64C>T 200937320 113209109 BUSHMAN-chr5-140051136 6.40e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140070953G>A;NG_032158.1:g.5019C>T;NM_001258040.1:c.-64C>T;NM_001258041.1:c.-64C>T;NM_001258042.1:c.-64C>T;NM_002109.4:c.-64C>T 332841496 113209109 20100804_snps_4485032_chr5_140070953 6.40e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071062A>C;NG_032158.1:g.4910T>G;NM_001258040.1:c.-173T>G;NM_001258041.1:c.-173T>G;NM_001258042.1:c.-173T>G;NM_002109.4:c.-173T>G 458427755 181150977 20101123_snps_4594985_chr5_140071062 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140071240C>G;NG_032158.1:g.4732G>C;NM_001258040.1:c.-351G>C;NM_001258041.1:c.-351G>C;NM_001258042.1:c.-351G>C;NM_002109.4:c.-351G>C 458427756 186043734 20101123_snps_4594986_chr5_140071240 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071240C>G;NG_032158.1:g.4732G>C;NM_001258040.1:c.-351G>C;NM_001258041.1:c.-351G>C;NM_001258042.1:c.-351G>C;NM_002109.4:c.-351G>C 490911590 186043734 20110521_exome_419388_chr5_140071240 3.20e-03 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140071240C>G;NG_032158.1:g.4732G>C;NM_001258040.1:c.-351G>C;NM_001258041.1:c.-351G>C;NM_001258042.1:c.-351G>C;NM_002109.4:c.-351G>C 491371644 186043734 nonsyn_87871_chr_5_140071240 3.20e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 ABI 3035 NC_000005.9:g.140071255_140071256insC;NG_032158.1:g.4716_4717insG;NM_001258040.1:c.-367_-366insG;NM_001258041.1:c.-367_-366insG;NM_001258042.1:c.-367_-366insG;NM_002109.4:c.-367_-366insG 42447396 34176495 hCV32959338 2005.07.18 2005.07.18 2006.03.13 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140071452C>T;NG_032158.1:g.4520G>A;NM_001258040.1:c.-563G>A;NM_001258041.1:c.-563G>A;NM_001258042.1:c.-563G>A;NM_002109.4:c.-563G>A 332841498 149259830 20100804_snps_4485034_chr5_140071452 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140071594G>A;NG_032158.1:g.4378C>T;NM_001258040.1:c.-705C>T;NM_001258041.1:c.-705C>T;NM_001258042.1:c.-705C>T;NM_002109.4:c.-705C>T 458427757 189268935 20101123_snps_4594987_chr5_140071594 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140071615T>A;NG_032158.1:g.4357A>T;NM_001258040.1:c.-726A>T;NM_001258041.1:c.-726A>T;NM_001258042.1:c.-726A>T;NM_002109.4:c.-726A>T 458427758 182161259 20101123_snps_4594988_chr5_140071615 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140071667T>C;NG_032158.1:g.4305A>G;NM_001258040.1:c.-778A>G;NM_001258041.1:c.-778A>G;NM_001258042.1:c.-778A>G;NM_002109.4:c.-778A>G 458427759 187344319 20101123_snps_4594989_chr5_140071667 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 72330 2563305 TSC0063427 1.80e-01 2002.09.21 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 3598333 2563305 AC010687.6_201963 1.80e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 YUSUKE 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 4962197 2563305 IMS-JST131820 1.80e-01 2002.08.07 2003.10.10 2001.09.28 2012.11.28 137 TSC-CSHL 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 5402813 2563305 TSC1430578 1.80e-01 2002.09.21 2006.10.25 2001.09.28 2012.11.28 137 BCM_SSAHASNP 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 10257350 2563305 chr5.NT_029289.9_1234663 1.80e-01 2003.06.29 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 75120111 2563305 ILMN_Human_1M_rs2563305 1.80e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 77487055 2563305 Cor12156_SNV_20070510.chr5_140051919 1.80e-01 2007.10.13 2007.10.13 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 79885891 2563305 Cor18507_SNV_20070510.chr5_140051919 1.80e-01 2007.11.24 2007.11.24 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 93269131 2563305 JWB-2047133 1.80e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 116832985 2563305 NA18507_000175758_NCBI36.1_chr5_140051919 1.80e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 119439151 2563305 KHS1601398 1.80e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 143484045 2563305 ENSSNP12926698 1.80e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 156094196 2563305 GMI_SNP_28631683 1.80e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 173391499 2563305 Human1M-Duov3_B_rs2563305-128_T_R_1514080496 1.80e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 200937324 2563305 BUSHMAN-chr5-140051918 1.80e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 206817128 2563305 BCM_CMT_1011-1072303 1.80e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 221997166 2563305 pilot_1_YRI_3806849_chr5_140051919 1.80e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 233171063 2563305 pilot_1_CEU_2775692_chr5_140051919 1.80e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 240287755 2563305 pilot_1_CHB+JPT_2172832_chr5_140051919 1.80e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 253846471 2563305 SNP140220_5_140051919 1.80e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 278502619 2563305 GMI_AK_SNP_2822858 1.80e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140071735A>G;NG_032158.1:g.4237T>C;NM_001258040.1:c.-846T>C;NM_001258041.1:c.-846T>C;NM_001258042.1:c.-846T>C;NM_002109.4:c.-846T>C 293471545 2563305 SNP_2977903_chr5_140051919 1.80e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140071737C>A;NG_032158.1:g.4235G>T;NM_001258040.1:c.-848G>T;NM_001258041.1:c.-848G>T;NM_001258042.1:c.-848G>T;NM_002109.4:c.-848G>T 200937328 112769758 BUSHMAN-chr5-140051920 6.40e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071737C>A;NG_032158.1:g.4235G>T;NM_001258040.1:c.-848G>T;NM_001258041.1:c.-848G>T;NM_001258042.1:c.-848G>T;NM_002109.4:c.-848G>T 221997167 112769758 pilot_1_YRI_3806850_chr5_140051921 6.40e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071873_140071874insC;NG_032158.1:g.4098_4099insG;NM_001258040.1:c.-985_-984insG;NM_001258041.1:c.-985_-984insG;NM_001258042.1:c.-985_-984insG;NM_002109.4:c.-985_-984insG 326725764 143897456 JPTCHB_chr5_140052057_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 TSC-CSHL 3035 NC_000005.9:g.140071883C>T;NG_032158.1:g.4089G>A;NM_001258040.1:c.-994G>A;NM_001258041.1:c.-994G>A;NM_001258042.1:c.-994G>A;NM_002109.4:c.-994G>A 72331 3887397 TSC0063428 2002.09.21 2003.10.10 2002.10.10 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140071883C>T;NG_032158.1:g.4089G>A;NM_001258040.1:c.-994G>A;NM_001258041.1:c.-994G>A;NM_001258042.1:c.-994G>A;NM_002109.4:c.-994G>A 5693121 3887397 NT_034777.1_1190020 2003.01.10 2003.10.10 2002.10.10 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140071927delA;NG_032158.1:g.4045delT;NM_001258040.1:c.-1038delT;NM_001258041.1:c.-1038delT;NM_001258042.1:c.-1038delT;NM_002109.4:c.-1038delT 326998946 139364834 YRI_chr5_140052110_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 CSHL-HAPMAP 3035 NC_000005.9:g.140071970G>A;NG_032158.1:g.4002C>T;NM_001258040.1:c.-1081C>T;NM_001258041.1:c.-1081C>T;NM_001258042.1:c.-1081C>T;NM_002109.4:c.-1081C>T 20229674 12652092 CSHL-HuFF-200402.chr5.NT_029289.10_1234897 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140071970G>A;NG_032158.1:g.4002C>T;NM_001258040.1:c.-1081C>T;NM_001258041.1:c.-1081C>T;NM_001258042.1:c.-1081C>T;NM_002109.4:c.-1081C>T 160291364 12652092 HumanOmni1-Quad_v1-0_B_rs12652092-128_B_R_1572580651 2009.08.06 2009.10.02 2004.02.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140071970G>A;NG_032158.1:g.4002C>T;NM_001258040.1:c.-1081C>T;NM_001258041.1:c.-1081C>T;NM_001258042.1:c.-1081C>T;NM_002109.4:c.-1081C>T 480382242 12652092 HumanOmni1-Quad_v1-0_C_rs12652092-131_B_R_1863346886 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 3598332 2563304 AC010687.6_201641 4.19e-01 2001.09.24 2004.04.07 2001.09.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 6790158 2563304 NT_029289.7_1196389 4.19e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 24145273 2563304 afd3320227 4.19e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 PERLEGEN 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 68951416 2563304 PGP03320227 4.19e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 81508812 2563304 Cor19240_SNV_20070510.chr5_140052241 4.19e-01 2007.11.30 2007.11.30 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 93269133 2563304 JWB-2047134 4.19e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 104800623 2563304 KHS1105219 4.19e-01 2008.06.09 2008.06.09 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 109460787 2563304 CEU.trio.12.15.2008_1374539_chr5_140052241 4.19e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 113346620 2563304 NA19240_2008_12_16_1234902_chr5_140052241 4.19e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 116832986 2563304 NA18507_000175759_NCBI36.1_chr5_140052241 4.19e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 143484049 2563304 ENSSNP12926699 4.19e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 156094204 2563304 GMI_SNP_27931530 4.19e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 162714322 2563304 NA07022_36_chr5_140052241 4.19e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 165928930 2563304 NA19240_36_chr5_140052241 4.19e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 167145717 2563304 NA20431_36_chr5_140052241 4.19e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 200937332 2563304 BUSHMAN-chr5-140052240 4.19e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 206721685 2563304 BCM_CMT_1011-1031012 4.19e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 221997168 2563304 pilot_1_YRI_3806851_chr5_140052241 4.19e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 233171064 2563304 pilot_1_CEU_2775693_chr5_140052241 4.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 240287756 2563304 pilot_1_CHB+JPT_2172833_chr5_140052241 4.19e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 278502620 2563304 GMI_AK_SNP_2822859 4.19e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140072057C>T;NG_032158.1:g.3915G>A;NM_001258040.1:c.-1168G>A;NM_001258041.1:c.-1168G>A;NM_001258042.1:c.-1168G>A;NM_002109.4:c.-1168G>A 293471546 2563304 SNP_2977904_chr5_140052241 4.19e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 YUSUKE 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 4962196 3776130 IMS-JST131819 3.94e-01 2002.08.07 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 6790159 3776130 NT_029289.7_1196581 3.94e-01 2003.02.13 2003.10.10 2002.08.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 93269135 3776130 JWB-2047135 3.94e-01 2008.03.04 2008.03.04 2002.08.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 143484053 3776130 ENSSNP12926700 3.94e-01 2009.06.06 2009.06.06 2002.08.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 156094212 3776130 GMI_SNP_67812721 3.94e-01 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 162714328 3776130 NA07022_36_chr5_140052433 3.94e-01 2009.09.29 2009.09.29 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 167145726 3776130 NA20431_36_chr5_140052433 3.94e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 200937336 3776130 BUSHMAN-chr5-140052432 3.94e-01 2010.03.07 2010.03.07 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 207214324 3776130 BCM_CMT_1011-1203773 3.94e-01 2010.03.18 2010.03.18 2002.08.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 278502621 3776130 GMI_AK_SNP_2822860 3.94e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072249G>T;NG_032158.1:g.3723C>A;NM_001258040.1:c.-1360C>A;NM_001258041.1:c.-1360C>A;NM_001258042.1:c.-1360C>A;NM_002109.4:c.-1360C>A 332841499 3776130 20100804_snps_4485035_chr5_140072249 3.94e-01 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 YUSUKE 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 4962195 3776129 IMS-JST131818 4.09e-01 2002.08.07 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 6789914 3776129 NT_029289.7_1196624 4.09e-01 2003.02.13 2003.10.10 2002.08.28 2012.11.28 137 HGSV 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 83723483 3776129 Cor19240_SNV_20070510.chr5_140052476 4.09e-01 2007.12.05 2007.12.05 2002.08.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 93269137 3776129 JWB-2047136 4.09e-01 2008.03.04 2008.03.04 2002.08.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 143484058 3776129 ENSSNP12926701 4.09e-01 2009.06.06 2009.06.06 2002.08.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 156094217 3776129 GMI_SNP_67523981 4.09e-01 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 162714335 3776129 NA07022_36_chr5_140052476 4.09e-01 2009.09.29 2009.09.29 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 165928933 3776129 NA19240_36_chr5_140052476 4.09e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 167145734 3776129 NA20431_36_chr5_140052476 4.09e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 200937340 3776129 BUSHMAN-chr5-140052475 4.09e-01 2010.03.07 2010.03.07 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 207169306 3776129 BCM_CMT_1011-1188803 4.09e-01 2010.03.18 2010.03.18 2002.08.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 221997169 3776129 pilot_1_YRI_3806852_chr5_140052476 4.09e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 233171065 3776129 pilot_1_CEU_2775694_chr5_140052476 4.09e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 253846476 3776129 SNP140221_5_140052476 4.09e-01 2010.08.19 2010.08.19 2002.08.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072292G>A;NG_032158.1:g.3680C>T;NM_001258040.1:c.-1403C>T;NM_001258041.1:c.-1403C>T;NM_001258042.1:c.-1403C>T;NM_002109.4:c.-1403C>T 278502622 3776129 GMI_AK_SNP_2822861 4.09e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072371G>A;NG_032158.1:g.3601C>T;NM_001258040.1:c.-1482C>T;NM_001258041.1:c.-1482C>T;NM_001258042.1:c.-1482C>T;NM_002109.4:c.-1482C>T 207240362 112585944 BCM_CMT_1011-1212419 4.10e-03 2010.03.18 2010.03.18 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072371G>A;NG_032158.1:g.3601C>T;NM_001258040.1:c.-1482C>T;NM_001258041.1:c.-1482C>T;NM_001258042.1:c.-1482C>T;NM_002109.4:c.-1482C>T 332841500 112585944 20100804_snps_4485036_chr5_140072371 4.10e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 YUSUKE 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 4962194 3776128 IMS-JST131817 1.80e-01 2002.08.07 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 6790160 3776128 NT_029289.7_1196724 1.80e-01 2003.02.13 2003.10.10 2002.08.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 93269138 3776128 JWB-2047137 1.80e-01 2008.03.04 2008.03.04 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 207265289 3776128 BCM_CMT_1011-1220776 1.80e-01 2010.03.18 2010.03.18 2002.08.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 278502623 3776128 GMI_AK_SNP_2822862 1.80e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072392C>T;NG_032158.1:g.3580G>A;NM_001258040.1:c.-1503G>A;NM_001258041.1:c.-1503G>A;NM_001258042.1:c.-1503G>A;NM_002109.4:c.-1503G>A 332841501 3776128 20100804_snps_4485037_chr5_140072392 1.80e-01 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072409C>T;NG_032158.1:g.3563G>A;NM_001258040.1:c.-1520G>A;NM_001258041.1:c.-1520G>A;NM_001258042.1:c.-1520G>A;NM_002109.4:c.-1520G>A 162714341 113720830 NA07022_36_chr5_140052593 2.17e-01 2009.09.29 2009.09.29 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072409C>T;NG_032158.1:g.3563G>A;NM_001258040.1:c.-1520G>A;NM_001258041.1:c.-1520G>A;NM_001258042.1:c.-1520G>A;NM_002109.4:c.-1520G>A 167145741 113720830 NA20431_36_chr5_140052593 2.17e-01 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 GMI 3035 NC_000005.9:g.140072409C>T;NG_032158.1:g.3563G>A;NM_001258040.1:c.-1520G>A;NM_001258041.1:c.-1520G>A;NM_001258042.1:c.-1520G>A;NM_002109.4:c.-1520G>A 278502624 113720830 GMI_AK_SNP_2822863 2.17e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072409C>T;NG_032158.1:g.3563G>A;NM_001258040.1:c.-1520G>A;NM_001258041.1:c.-1520G>A;NM_001258042.1:c.-1520G>A;NM_002109.4:c.-1520G>A 332841502 113720830 20100804_snps_4485038_chr5_140072409 2.17e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140072493T>A;NG_032158.1:g.3479A>T;NM_001258040.1:c.-1604A>T;NM_001258041.1:c.-1604A>T;NM_001258042.1:c.-1604A>T;NM_002109.4:c.-1604A>T 143484061 80074170 ENSSNP12926702 2009.06.06 2009.06.06 2009.12.01 2011.07.08 137 1000GENOMES 3035 NC_000005.9:g.140072534C>T;NG_032158.1:g.3438G>A;NM_001258040.1:c.-1645G>A;NM_001258041.1:c.-1645G>A;NM_001258042.1:c.-1645G>A;NM_002109.4:c.-1645G>A 332841503 140169815 20100804_snps_4485039_chr5_140072534 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 3035 NC_000005.9:g.140072584C>T;NG_032158.1:g.3388G>A;NM_001258040.1:c.-1695G>A;NM_001258041.1:c.-1695G>A;NM_001258042.1:c.-1695G>A;NM_002109.4:c.-1695G>A 200937344 111863295 BUSHMAN-chr5-140052767 6.90e-03 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072584C>T;NG_032158.1:g.3388G>A;NM_001258040.1:c.-1695G>A;NM_001258041.1:c.-1695G>A;NM_001258042.1:c.-1695G>A;NM_002109.4:c.-1695G>A 221997170 111863295 pilot_1_YRI_3806853_chr5_140052768 6.90e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_JCM 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 3547043 2530235 AC005369.1_43094 3.98e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 74973039 2530235 ILMN_Human_1M_rs2530235 3.98e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 BCMHGSC_JDW 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 93269140 2530235 JWB-2047138 3.98e-01 2008.03.04 2008.03.04 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 109460791 2530235 CEU.trio.12.15.2008_1374540_chr5_140052831 3.98e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ILLUMINA-UK 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 116832987 2530235 NA18507_000175760_NCBI36.1_chr5_140052831 3.98e-01 2009.01.18 2009.01.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 119438352 2530235 KHS1600599 3.98e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 143484066 2530235 ENSSNP12926703 3.98e-01 2009.06.06 2009.06.06 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 156094232 2530235 GMI_SNP_231801950 3.98e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 162714346 2530235 NA07022_36_chr5_140052831 3.98e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 167145747 2530235 NA20431_36_chr5_140052831 3.98e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 173382845 2530235 Human1M-Duov3_B_rs2530235-128_B_R_1513934308 3.98e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 200937348 2530235 BUSHMAN-chr5-140052830 3.98e-01 2010.03.07 2010.03.07 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 206803824 2530235 BCM_CMT_1011-1067951 3.98e-01 2010.03.18 2010.03.18 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 221997171 2530235 pilot_1_YRI_3806854_chr5_140052831 3.98e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 233171066 2530235 pilot_1_CEU_2775695_chr5_140052831 3.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 240287757 2530235 pilot_1_CHB+JPT_2172834_chr5_140052831 3.98e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 253846480 2530235 SNP140222_5_140052831 3.98e-01 2010.08.19 2010.08.19 2001.09.28 2012.11.28 137 GMI 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 278502625 2530235 GMI_AK_SNP_2822864 3.98e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 3035 NC_000005.9:g.140072647G>T;NG_032158.1:g.3325C>A;NM_001258040.1:c.-1758C>A;NM_001258041.1:c.-1758C>A;NM_001258042.1:c.-1758C>A;NM_002109.4:c.-1758C>A 293471547 2530235 SNP_2977905_chr5_140052831 3.98e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072655A>T;NG_032158.1:g.3317T>A;NM_001258040.1:c.-1766T>A;NM_001258041.1:c.-1766T>A;NM_001258042.1:c.-1766T>A;NM_002109.4:c.-1766T>A 458427760 190818970 20101123_snps_4594990_chr5_140072655 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140072669A>G;NG_032158.1:g.3303T>C;NM_001258040.1:c.-1780T>C;NM_001258041.1:c.-1780T>C;NM_001258042.1:c.-1780T>C;NM_002109.4:c.-1780T>C 332841504 142289599 20100804_snps_4485040_chr5_140072669 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 3035 NC_000005.9:g.140072724C>T;NG_032158.1:g.3248G>A;NM_001258040.1:c.-1835G>A;NM_001258041.1:c.-1835G>A;NM_001258042.1:c.-1835G>A;NM_002109.4:c.-1835G>A 458427761 182948878 20101123_snps_4594991_chr5_140072724 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 3035 NC_000005.9:g.140072789G>A;NG_032158.1:g.3183C>T;NM_001258040.1:c.-1900C>T;NM_001258041.1:c.-1900C>T;NM_001258042.1:c.-1900C>T;NM_002109.4:c.-1900C>T 458427762 185828130 20101123_snps_4594992_chr5_140072789 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072811G>A;NG_032158.1:g.3161C>T;NM_001258040.1:c.-1922C>T;NM_001258041.1:c.-1922C>T;NM_001258042.1:c.-1922C>T;NM_002109.4:c.-1922C>T 162714353 112859141 NA07022_36_chr5_140052995 2.17e-01 2009.09.29 2009.09.29 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072811G>A;NG_032158.1:g.3161C>T;NM_001258040.1:c.-1922C>T;NM_001258041.1:c.-1922C>T;NM_001258042.1:c.-1922C>T;NM_002109.4:c.-1922C>T 167145754 112859141 NA20431_36_chr5_140052995 2.17e-01 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 3035 NC_000005.9:g.140072811G>A;NG_032158.1:g.3161C>T;NM_001258040.1:c.-1922C>T;NM_001258041.1:c.-1922C>T;NM_001258042.1:c.-1922C>T;NM_002109.4:c.-1922C>T 207109393 112859141 BCM_CMT_1011-1168890 2.17e-01 2010.03.18 2010.03.18 2010.07.04 2012.11.28 137 GMI 3035 NC_000005.9:g.140072811G>A;NG_032158.1:g.3161C>T;NM_001258040.1:c.-1922C>T;NM_001258041.1:c.-1922C>T;NM_001258042.1:c.-1922C>T;NM_002109.4:c.-1922C>T 278502626 112859141 GMI_AK_SNP_2822865 2.17e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072811G>A;NG_032158.1:g.3161C>T;NM_001258040.1:c.-1922C>T;NM_001258041.1:c.-1922C>T;NM_001258042.1:c.-1922C>T;NM_002109.4:c.-1922C>T 332841505 112859141 20100804_snps_4485041_chr5_140072811 2.17e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 3035 NC_000005.9:g.140072880G>T;NG_032158.1:g.3092C>A;NM_001258040.1:c.-1991C>A;NM_001258041.1:c.-1991C>A;NM_001258042.1:c.-1991C>A;NM_002109.4:c.-1991C>A 165928936 113066628 NA19240_36_chr5_140053064 3.20e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140072880G>T;NG_032158.1:g.3092C>A;NM_001258040.1:c.-1991C>A;NM_001258041.1:c.-1991C>A;NM_001258042.1:c.-1991C>A;NM_002109.4:c.-1991C>A 332841506 113066628 20100804_snps_4485042_chr5_140072880 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 DEVINE_LAB 3035 NC_000005.9:g.140072917delA;NG_032158.1:g.3055delT;NM_001258040.1:c.-2028delT;NM_001258041.1:c.-2028delT;NM_001258042.1:c.-2028delT;NM_002109.4:c.-2028delT 15186601 11309606 INDEL_GP34_WGS_296688 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 ABI 3035 NC_000005.9:g.140072917_140072918insA;NG_032158.1:g.3054_3055insT;NM_001258040.1:c.-2029_-2028insT;NM_001258041.1:c.-2029_-2028insT;NM_001258042.1:c.-2029_-2028insT;NM_002109.4:c.-2029_-2028insT 42607839 34903998 hCV32959336 2005.07.18 2005.07.18 2006.03.14 2012.05.11 137 DEVINE_LAB 3035 NC_000005.9:g.140072917delA;NG_032158.1:g.3055delT;NM_001258040.1:c.-2028delT;NM_001258041.1:c.-2028delT;NM_001258042.1:c.-2028delT;NM_002109.4:c.-2028delT 50224425 11309606 INDEL_GP35_WGS_464273 2006.01.24 2006.01.24 2004.02.28 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140072917delA;NG_032158.1:g.3055delT;NM_001258040.1:c.-2028delT;NM_001258041.1:c.-2028delT;NM_001258042.1:c.-2028delT;NM_002109.4:c.-2028delT 99551119 11309606 INDEL_GP36_2007a_337890_0 2008.05.05 2008.05.05 2004.02.28 2011.07.08 137 DEVINE_LAB 3035 NC_000005.9:g.140072917_140072918insA;NG_032158.1:g.3054_3055insT;NM_001258040.1:c.-2029_-2028insT;NM_001258041.1:c.-2029_-2028insT;NM_001258042.1:c.-2029_-2028insT;NM_002109.4:c.-2029_-2028insT 102245982 34903998 INDEL_GP36_2008a_2514223_0 2008.05.18 2008.05.18 2006.03.14 2012.05.11 137 NHLBI-ESP 3035 NC_000005.9:g.140073192T>G;NG_032158.1:g.2780A>C;NM_001258040.1:c.-2303A>C;NM_001258041.1:c.-2303A>C;NM_001258042.1:c.-2303A>C;NM_002109.4:c.-2303A>C 342189988 146046742 ESP2500-chr5-140073192 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140073192T>G;NG_032158.1:g.2780A>C;NM_001258040.1:c.-2303A>C;NM_001258041.1:c.-2303A>C;NM_001258042.1:c.-2303A>C;NM_002109.4:c.-2303A>C 491371645 146046742 stopgl_87872_chr_5_140073192 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 3035 NC_000005.9:g.140073219A>G;NG_032158.1:g.2753T>C;NM_001258040.1:c.-2330T>C;NM_001258041.1:c.-2330T>C;NM_001258042.1:c.-2330T>C;NM_002109.4:c.-2330T>C 342189989 140083454 ESP2500-chr5-140073219 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 3035 NC_000005.9:g.140073219A>G;NG_032158.1:g.2753T>C;NM_001258040.1:c.-2330T>C;NM_001258041.1:c.-2330T>C;NM_001258042.1:c.-2330T>C;NM_002109.4:c.-2330T>C 491371646 140083454 nonsyn_87873_chr_5_140073219 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 3035 NC_000005.9:g.140073220G>C;NG_032158.1:g.2752C>G;NM_001258040.1:c.-2331C>G;NM_001258041.1:c.-2331C>G;NM_001258042.1:c.-2331C>G;NM_002109.4:c.-2331C>G 488815586 199927856 20110521_exome_83656_chr5_140073220 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GOLDSTEINLAB 3035 ARRAY(0x1c6e0e10) 507869836 201392711 5_140053423_G 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 # Report date: 2013.2.9, Gene: HARS (3035), ss count: 1135, rs count: 368.