# 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 8892 NC_000014.8:g.75467650T>C;NG_013333.1:g.3039T>C;NM_014239.3:c.-2044T>C 338453114 146852351 20100804_snps_10096655_chr14_75467650 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75467693C>T;NG_013333.1:g.3082C>T;NM_014239.3:c.-2001C>T 243025682 75156532 pilot_1_CHB+JPT_4910759_chr14_74537446 1.40e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467726G>A;NG_013333.1:g.3115G>A;NM_014239.3:c.-1968G>A 338453115 140874524 20100804_snps_10096656_chr14_75467726 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75467869_75467872delAAAC;NG_013333.1:g.3258_3261delAAAC;NM_014239.3:c.-1825_-1822delAAAC 328141302 148414242 YRI_chr14_74537621_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 KWOK 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 232971 175038 OVLP-000621-114152 8.20e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 556183 175038 AL049780.2_160539 8.20e-03 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 1270617 175038 OVLP-000804-229012 8.20e-03 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 1639833 175038 OVLP-000925-384708 8.20e-03 2000.10.04 2006.10.25 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 3877685 175038 AL049780.3_160559 8.20e-03 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 10729175 175038 chr14.NT_026437.10_55387957 8.20e-03 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 14383437 175038 chr14.NT_026437.10_55387957 8.20e-03 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 17521309 175038 CSHL-HuCC-200402.chr14.NT_026437.10_55387957 8.20e-03 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 19301464 175038 CSHL-HuDD-200402.chr14.NT_026437.10_55387957 8.20e-03 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 19989639 175038 CSHL-HuFF-200402.chr14.NT_026437.10_55387957 8.20e-03 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 21165445 175038 WGSA-200403-chr14.chr14.NT_026437.10_55387957 8.20e-03 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 75147999 175038 ILMN_Human_1M_rs175038 8.20e-03 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 77210750 175038 Cor12156_SNV_20070510.chr14_74537669 8.20e-03 2007.10.09 2007.10.11 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 78105009 175038 Cor12878_SNV_20070510.chr14_74537669 8.20e-03 2007.10.17 2007.10.17 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 82079633 175038 Cor18956_SNV_20070510.chr14_74537669 8.20e-03 2007.12.02 2007.12.02 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 84499646 175038 Cor19129_SNV_20070510.chr14_74537669 8.20e-03 2007.12.07 2007.12.07 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 84571378 175038 Cor18517_SNV_20070510.chr14_74537669 8.20e-03 2007.12.07 2007.12.07 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 89996283 175038 JWB-0793629 8.20e-03 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 96869010 175038 1103649100147 8.20e-03 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 106398432 175038 BGI_rs175038 8.20e-03 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 108460387 175038 CEU.trio.12.15.2008_3076988_chr14_74537669 8.20e-03 2008.12.15 2008.12.15 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 113536986 175038 NA19240_2008_12_16_2758950_chr14_74537669 8.20e-03 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 118584547 175038 NA18507_000069277_NCBI36.1_chr14_74537669 8.20e-03 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 119342849 175038 KHS1505096 8.20e-03 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 134052287 175038 ENSSNP10912412 8.20e-03 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 137000189 175038 ENSSNP1029776 8.20e-03 2009.05.16 2009.10.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 155985554 175038 GMI_SNP_126078245 8.20e-03 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 168313642 175038 NA07022_36_chr14_74537669 8.20e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 169947234 175038 NA19240_36_chr14_74537669 8.20e-03 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 172840387 175038 Human1M-Duov3_B_rs175038-128_B_R_1514094464 8.20e-03 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 200268649 175038 BUSHMAN-chr14-74537668 8.20e-03 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 206879171 175038 BCM_CMT_1011-2593096 8.20e-03 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 226652711 175038 pilot_1_YRI_8462394_chr14_74537669 8.20e-03 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 236604350 175038 pilot_1_CEU_6208979_chr14_74537669 8.20e-03 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 255105111 175038 SNP60303_14_74537669 8.20e-03 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 282065074 175038 GMI_AK_SNP_6385463 8.20e-03 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 8892 NC_000014.8:g.75467916C>A;NG_013333.1:g.3305C>A;NM_014239.3:c.-1778C>A 291630032 175038 SNP_1136390_chr14_74537669 8.20e-03 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75467987A>C;NG_013333.1:g.3376A>C;NM_014239.3:c.-1707A>C 338453116 75855617 20100804_snps_10096657_chr14_75467987 7.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 HGSV 8892 NC_000014.8:g.75468022T>G;NG_013333.1:g.3411T>G;NM_014239.3:c.-1672T>G 85940910 59090236 Cor19129_SNV_20070510.chr14_74537775 5.00e-04 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468022T>G;NG_013333.1:g.3411T>G;NM_014239.3:c.-1672T>G 338453117 59090236 20100804_snps_10096658_chr14_75468022 5.00e-04 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75468226A>G;NG_013333.1:g.3615A>G;NM_014239.3:c.-1468A>G 200268653 74923392 BUSHMAN-chr14-74537978 1.79e-02 2010.03.07 2010.03.07 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468226A>G;NG_013333.1:g.3615A>G;NM_014239.3:c.-1468A>G 226652712 74923392 pilot_1_YRI_8462395_chr14_74537979 1.79e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468226A>G;NG_013333.1:g.3615A>G;NM_014239.3:c.-1468A>G 236604351 74923392 pilot_1_CEU_6208980_chr14_74537979 1.79e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468282G>A;NG_013333.1:g.3671G>A;NM_014239.3:c.-1412G>A 338453118 140141924 20100804_snps_10096659_chr14_75468282 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75468297C>A;NG_013333.1:g.3686C>A;NM_014239.3:c.-1397C>A 338453119 150298147 20100804_snps_10096660_chr14_75468297 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75468386T>C;NG_013333.1:g.3775T>C;NM_014239.3:c.-1308T>C 338453120 138065414 20100804_snps_10096661_chr14_75468386 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 8892 NC_000014.8:g.75468474T>A;NG_013333.1:g.3863T>A;NM_014239.3:c.-1220T>A 19293260 12432886 CSHL-HuDD-200402.chr14.NT_026437.10_55388515 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 WI_SSAHASNP 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 13993800 10134909 chr14.NT_026437.10_55388653 2.06e-02 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 75202478 10134909 ILMN_Human_1M_rs10134909 2.06e-02 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 119614476 10134909 KHS1776723 2.06e-02 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 159868246 10134909 HumanOmni1-Quad_v1-0_B_rs10134909-128_T_R_1514160958 2.06e-02 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 169729259 10134909 Human1M-Duov3_B_rs10134909-128_T_R_1514160958 2.06e-02 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 226652714 10134909 pilot_1_YRI_8462397_chr14_74538365 2.06e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 479199041 10134909 HumanOmni2.5-4v1_B_rs10134909-128_T_R_1514160958 2.06e-02 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 479201478 10134909 HumanOmniExpress-12v1_C_rs10134909-131_T_R_1857021095 2.06e-02 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 479539263 10134909 HumanOmni1-Quad_v1-0_C_rs10134909-131_T_R_1857021095 2.06e-02 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468612T>C;NG_013333.1:g.4001T>C;NM_014239.3:c.-1082T>C 484400510 10134909 HumanOmni2.5-4v1_D_rs10134909-131_T_R_1857021095 2.06e-02 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468655A>C;NG_013333.1:g.4044A>C;NM_014239.3:c.-1039A>C 463901947 186412400 20101123_snps_10069177_chr14_75468655 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75468775C>T;NG_013333.1:g.4164C>T;NM_014239.3:c.-919C>T 226652715 78282776 pilot_1_YRI_8462398_chr14_74538528 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468805G>A;NG_013333.1:g.4194G>A;NM_014239.3:c.-889G>A 463901948 191171384 20101123_snps_10069178_chr14_75468805 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75468815C>T;NG_013333.1:g.4204C>T;NM_014239.3:c.-879C>T 338453121 143748138 20100804_snps_10096662_chr14_75468815 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 232972 175039 OVLP-000621-114153 3.76e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 556319 175039 AL049780.2_159505 3.76e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 1270618 175039 OVLP-000804-229013 3.76e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 1639834 175039 OVLP-000925-384709 3.76e-01 2000.10.04 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 3071510 175039 TSC1162968 3.76e-01 2001.06.07 2004.04.07 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 3877684 175039 AL049780.3_159525 3.76e-01 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 4928788 175039 IMS-JST093965 3.76e-01 2002.07.29 2003.10.10 2000.07.12 2012.11.28 137 ABI 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 43662257 175039 hCV1082848 3.76e-01 2005.07.18 2006.11.03 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 81061489 175039 Cor18507_SNV_20070510.chr14_74538703 3.76e-01 2007.11.27 2007.11.27 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 89996286 175039 JWB-0793630 3.76e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 103198830 175039 BGI_rs175039 3.76e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 113536994 175039 NA19240_2008_12_16_2758951_chr14_74538703 3.76e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 118584552 175039 NA18507_000069278_NCBI36.1_chr14_74538703 3.76e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 134052291 175039 ENSSNP5888357 3.76e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 155985561 175039 GMI_SNP_91464700 3.76e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 168313653 175039 NA07022_36_chr14_74538703 3.76e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 169947255 175039 NA19240_36_chr14_74538703 3.76e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 171324683 175039 NA20431_36_chr14_74538703 3.76e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 200268657 175039 BUSHMAN-chr14-74538702 3.76e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 226652716 175039 pilot_1_YRI_8462399_chr14_74538703 3.76e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 236604352 175039 pilot_1_CEU_6208981_chr14_74538703 3.76e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 243025683 175039 pilot_1_CHB+JPT_4910760_chr14_74538703 3.76e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 244283799 175039 CVDSNP55v1_A_rs175039 3.76e-01 2010.06.10 2010.06.10 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 255105116 175039 SNP60304_14_74538703 3.76e-01 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 282065075 175039 GMI_AK_SNP_6385464 3.76e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 8892 NC_000014.8:g.75468950G>C;NG_013333.1:g.4339G>C;NM_014239.3:c.-744G>C 291630033 175039 SNP_1136391_chr14_74538703 3.76e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469044C>T;NG_013333.1:g.4433C>T;NM_014239.3:c.-650C>T 338453122 145920330 20100804_snps_10096663_chr14_75469044 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75469115C>T;NG_013333.1:g.4504C>T;NM_014239.3:c.-579C>T 338453123 138859038 20100804_snps_10096664_chr14_75469115 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 8892 NC_000014.8:g.75469234C>A;NG_013333.1:g.4623C>A;NM_014239.3:c.-460C>A 207153710 112811294 BCM_CMT_1011-2684602 2010.03.18 2010.03.18 2010.07.04 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75469303T>C;NG_013333.1:g.4692T>C;NM_014239.3:c.-391T>C 463901949 181659454 20101123_snps_10069179_chr14_75469303 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75469388G>C;NG_013333.1:g.4777G>C;NM_014239.3:c.-306G>C 463901950 186863715 20101123_snps_10069180_chr14_75469388 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 232973 175040 OVLP-000621-114154 3.94e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 526150 175040 AC006530.4_152916 3.94e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 1270619 175040 OVLP-000804-229014 3.94e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 4999962 175040 IMS-JST173711 3.94e-01 2002.08.12 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 5238392 175040 TSC1751782 3.94e-01 2002.09.20 2004.05.16 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 75092682 175040 ILMN_Human_1M_rs175040 3.94e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 85127605 175040 Cor19240_SNV_20070510.chr14_74539308 3.94e-01 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 89996288 175040 JWB-0793631 3.94e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 103198831 175040 BGI_rs175040 3.94e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 118584557 175040 NA18507_000069279_NCBI36.1_chr14_74539308 3.94e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 119342850 175040 KHS1505097 3.94e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 134052293 175040 ENSSNP6730728 3.94e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 155985568 175040 GMI_SNP_110581251 3.94e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 160445910 175040 HumanOmni1-Quad_v1-0_B_rs175040-128_T_F_1514075436 3.94e-01 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 168313666 175040 NA07022_36_chr14_74539308 3.94e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 169947268 175040 NA19240_36_chr14_74539308 3.94e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 171324692 175040 NA20431_36_chr14_74539308 3.94e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 172840414 175040 Human1M-Duov3_B_rs175040-128_T_F_1514075436 3.94e-01 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 200268660 175040 BUSHMAN-chr14-74539307 3.94e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 211539651 175040 YRI.trio.3.2010_1230378_chr14_74539308 3.94e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 226652717 175040 pilot_1_YRI_8462400_chr14_74539308 3.94e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 236604353 175040 pilot_1_CEU_6208982_chr14_74539308 3.94e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 243025684 175040 pilot_1_CHB+JPT_4910761_chr14_74539308 3.94e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 255105121 175040 SNP60305_14_74539308 3.94e-01 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 282065076 175040 GMI_AK_SNP_6385465 3.94e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 480247583 175040 HumanOmni2.5-4v1_B_rs175040-128_T_F_1780391337 3.94e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 480258397 175040 HumanOmniExpress-12v1_C_rs175040-131_T_F_1856971769 3.94e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 480999695 175040 HumanOmni1-Quad_v1-0_C_rs175040-131_T_F_1865528494 3.94e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75469555A>G;NG_013333.1:g.4944A>G;NM_014239.3:c.-139A>G 484921714 175040 HumanOmni2.5-4v1_D_rs175040-131_T_F_1856971769 3.94e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469587C>A;NG_013333.1:g.4976C>A;NM_014239.3:c.-107C>A 463901951 191658126 20101123_snps_10069181_chr14_75469587 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 8892 NC_000014.8:g.75469634A>G;NG_013333.1:g.5023A>G;NM_014239.3:c.-60A>G 491690622 200557826 SNV-chr14-74539387 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75469638T>C;NG_013333.1:g.5027T>C;NM_014239.3:c.-56T>C 491690623 201368910 SNV-chr14-74539391 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469682G>T;NG_013333.1:g.5071G>T;NM_014239.3:c.-12G>T 489035800 199626686 20110521_exome_191649_chr14_75469682 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75469694A>G;NG_013333.1:g.5083A>G;NM_014239.3:c.1A>G;NP_055054.1:p.Met1Val 491690624 199671360 SNV-chr14-74539447 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469757C>T;NG_013333.1:g.5146C>T;NM_014239.3:c.64C>T;NP_055054.1:p.Leu22= 338453124 143091762 20100804_snps_10096665_chr14_75469757 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469757C>T;NG_013333.1:g.5146C>T;NM_014239.3:c.64C>T;NP_055054.1:p.Leu22= 491072740 143091762 20110521_exome_580538_chr14_75469757 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75469769G>C;NG_013333.1:g.5158G>C;NM_014239.3:c.76G>C;NP_055054.1:p.Gly26Arg 342392073 141355163 ESP2500-chr14-75469769 2.30e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469769G>C;NG_013333.1:g.5158G>C;NM_014239.3:c.76G>C;NP_055054.1:p.Gly26Arg 489035802 141355163 20110521_exome_191650_chr14_75469769 2.30e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75469769G>C;NG_013333.1:g.5158G>C;NM_014239.3:c.76G>C;NP_055054.1:p.Gly26Arg 491487490 141355163 nonsyn_203716_chr_14_75469769 2.30e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469777G>C;NG_013333.1:g.5166G>C;NM_014239.3:c.84G>C;NP_055054.1:p.Pro28= 338453125 144753546 20100804_snps_10096666_chr14_75469777 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469777G>C;NG_013333.1:g.5166G>C;NM_014239.3:c.84G>C;NP_055054.1:p.Pro28= 491072741 144753546 20110521_exome_580539_chr14_75469777 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75469789G>A;NG_013333.1:g.5178G>A;NM_014239.3:c.96G>A;NP_055054.1:p.Glu32= 342392074 146228503 ESP2500-chr14-75469789 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 8892 NC_000014.8:g.75469812G>C;NG_013333.1:g.5201G>C;NM_014239.3:c.119G>C;NP_055054.1:p.Gly40Ala 342392075 139325888 ESP2500-chr14-75469812 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75469902C>T;NG_013333.1:g.5291C>T;NM_014239.3:c.163+46C>T 338453126 148506549 20100804_snps_10096667_chr14_75469902 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 8892 NC_000014.8:g.75469939C>T;NG_013333.1:g.5328C>T;NM_014239.3:c.164-39C>T 200268665 112768305 BUSHMAN-chr14-74539691 5.00e-04 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469939C>T;NG_013333.1:g.5328C>T;NM_014239.3:c.164-39C>T 489035804 112768305 20110521_exome_191651_chr14_75469939 5.00e-04 2012.02.13 2012.02.13 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469962C>T;NG_013333.1:g.5351C>T;NM_014239.3:c.164-16C>T 338453127 141814339 20100804_snps_10096668_chr14_75469962 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75469962C>T;NG_013333.1:g.5351C>T;NM_014239.3:c.164-16C>T 491072742 141814339 20110521_exome_580540_chr14_75469962 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75470048G>C;NG_013333.1:g.5437G>C;NM_014239.3:c.234G>C;NP_055054.1:p.Val78= 342392076 142827960 ESP2500-chr14-75470048 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470100T>G;NG_013333.1:g.5489T>G;NM_014239.3:c.284+2T>G 491690625 200364116 SNV-chr14-74539853 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470114T>A;NG_013333.1:g.5503T>A;NM_014239.3:c.284+16T>A 489035806 200073232 20110521_exome_191652_chr14_75470114 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470114T>A;NG_013333.1:g.5503T>A;NM_014239.3:c.284+16T>A 491690626 200073232 SNV-chr14-74539867 5.00e-04 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470140C>G;NG_013333.1:g.5529C>G;NM_014239.3:c.284+42C>G 463901952 183116394 20101123_snps_10069182_chr14_75470140 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470140C>G;NG_013333.1:g.5529C>G;NM_014239.3:c.284+42C>G 491072743 183116394 20110521_exome_580541_chr14_75470140 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 MGC_GENOME_DIFF 8892 NC_000014.8:g.75470268G>C;NG_013333.1:g.5657G>C;NM_014239.3:c.299G>C;NP_055054.1:p.Ser100Thr 28503626 17849324 BC000494x29736559-G55390309C 2004.08.25 2004.08.25 2004.09.24 2011.07.08 137 MGC_GENOME_DIFF 8892 NC_000014.8:g.75470268G>C;NG_013333.1:g.5657G>C;NM_014239.3:c.299G>C;NP_055054.1:p.Ser100Thr 28504043 17849324 BC003165x29736559-G55390309C 2004.08.25 2004.08.25 2004.09.24 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75470349C>T;NG_013333.1:g.5738C>T;NM_014239.3:c.380C>T;NP_055054.1:p.Ala127Val 338453128 150617429 20100804_snps_10096669_chr14_75470349 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75470349C>T;NG_013333.1:g.5738C>T;NM_014239.3:c.380C>T;NP_055054.1:p.Ala127Val 342392077 150617429 ESP2500-chr14-75470349 2.30e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470349C>T;NG_013333.1:g.5738C>T;NM_014239.3:c.380C>T;NP_055054.1:p.Ala127Val 491072744 150617429 20110521_exome_580542_chr14_75470349 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75470349C>T;NG_013333.1:g.5738C>T;NM_014239.3:c.380C>T;NP_055054.1:p.Ala127Val 491487491 150617429 nonsyn_203717_chr_14_75470349 2.30e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470349C>T;NG_013333.1:g.5738C>T;NM_014239.3:c.380C>T;NP_055054.1:p.Ala127Val 491690627 150617429 SNV-chr14-74540102 2.30e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470351C>A;NG_013333.1:g.5740C>A;NM_014239.3:c.382C>A;NP_055054.1:p.Gln128Lys 491690628 200642949 SNV-chr14-74540104 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470370T>C;NG_013333.1:g.5759T>C;NM_014239.3:c.401T>C;NP_055054.1:p.Ile134Thr 489035808 201622896 20110521_exome_191653_chr14_75470370 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470374G>T;NG_013333.1:g.5763G>T;NM_014239.3:c.405G>T;NP_055054.1:p.Glu135Asp 491690629 201912801 SNV-chr14-74540127 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 KWOK 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 232974 175041 OVLP-000621-114155 1.24e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 595328 175041 AL049780.2_158009 1.24e-02 2000.07.12 2006.10.25 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 1270620 175041 OVLP-000804-229015 1.24e-02 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 1639835 175041 OVLP-000925-384710 1.24e-02 2000.10.04 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 3877683 175041 AL049780.3_158029 1.24e-02 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 12288891 175041 chr14.NT_026437.10_55390487 1.24e-02 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 19293290 175041 CSHL-HuDD-200402.chr14.NT_026437.10_55390487 1.24e-02 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 21189647 175041 WGSA-200403-chr14.chr14.NT_026437.10_55390487 1.24e-02 2004.03.19 2004.03.19 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 75117090 175041 ILMN_Human_1M_rs175041 1.24e-02 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 77730761 175041 Cor12156_SNV_20070510.chr14_74540199 1.24e-02 2007.10.14 2007.10.14 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 78654362 175041 Cor12878_SNV_20070510.chr14_74540199 1.24e-02 2007.10.20 2007.10.20 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 83990503 175041 Cor18555_SNV_20070510.chr14_74540199 1.24e-02 2007.12.06 2007.12.06 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 84855241 175041 Cor19240_SNV_20070510.chr14_74540199 1.24e-02 2007.12.08 2007.12.08 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 89996290 175041 JWB-0793632 1.24e-02 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 96869011 175041 1103649100148 1.24e-02 2008.03.27 2008.03.27 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 106398433 175041 BGI_rs175041 1.24e-02 2008.09.15 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 108460391 175041 CEU.trio.12.15.2008_3076989_chr14_74540199 1.24e-02 2008.12.15 2008.12.15 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 113537003 175041 NA19240_2008_12_16_2758952_chr14_74540199 1.24e-02 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 118584561 175041 NA18507_000069280_NCBI36.1_chr14_74540199 1.24e-02 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 119342851 175041 KHS1505098 1.24e-02 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 132342410 175041 ENSSNP1029777 1.24e-02 2009.05.11 2009.10.15 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 134052297 175041 ENSSNP5849382 1.24e-02 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 155985576 175041 GMI_SNP_64992022 1.24e-02 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 160445915 175041 HumanOmni1-Quad_v1-0_B_rs175041-128_B_R_1514075437 1.24e-02 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 168313677 175041 NA07022_36_chr14_74540199 1.24e-02 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 169947280 175041 NA19240_36_chr14_74540199 1.24e-02 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 171324701 175041 NA20431_36_chr14_74540199 1.24e-02 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 172840430 175041 Human1M-Duov3_B_rs175041-128_B_R_1514075437 1.24e-02 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 200268669 175041 BUSHMAN-chr14-74540198 1.24e-02 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 206853717 175041 BCM_CMT_1011-2584456 1.24e-02 2010.03.18 2010.03.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 226652718 175041 pilot_1_YRI_8462401_chr14_74540199 1.24e-02 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 236604354 175041 pilot_1_CEU_6208983_chr14_74540199 1.24e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 244283800 175041 CVDSNP55v1_A_rs175041 1.24e-02 2010.06.10 2010.06.10 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 255105127 175041 SNP60306_14_74540199 1.24e-02 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 282065077 175041 GMI_AK_SNP_6385466 1.24e-02 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 291630034 175041 SNP_1136392_chr14_74540199 1.24e-02 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 480247599 175041 HumanOmni2.5-4v1_B_rs175041-128_B_R_1690720837 1.24e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 480258415 175041 HumanOmniExpress-12v1_C_rs175041-131_B_R_1856971790 1.24e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 480999715 175041 HumanOmni1-Quad_v1-0_C_rs175041-131_B_R_1865248047 1.24e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 484921723 175041 HumanOmni2.5-4v1_D_rs175041-131_B_R_1856971790 1.24e-02 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 491072745 175041 20110521_exome_580543_chr14_75470446 1.24e-02 2012.02.22 2012.02.22 2000.07.12 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75470446C>A;NG_013333.1:g.5835C>A;NM_014239.3:c.433+44C>A 491690630 175041 SNV-chr14-74540199 1.24e-02 2012.03.06 2012.03.12 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75470537A>G;NG_013333.1:g.5926A>G;NM_014239.3:c.433+135A>G 19293311 12432898 CSHL-HuDD-200402.chr14.NT_026437.10_55390578 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ABI 8892 NC_000014.8:g.75470537A>G;NG_013333.1:g.5926A>G;NM_014239.3:c.433+135A>G 43578192 12432898 hCV2178421 2005.07.18 2005.07.18 2004.02.28 2011.09.09 137 ENSEMBL 8892 NC_000014.8:g.75470537A>G;NG_013333.1:g.5926A>G;NM_014239.3:c.433+135A>G 161674518 12432898 ENSSNP1029778 2009.09.25 2009.09.25 2004.02.28 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75470612A>G;NG_013333.1:g.6001A>G;NM_014239.3:c.433+210A>G 463901953 187019717 20101123_snps_10069183_chr14_75470612 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75470712C>T;NG_013333.1:g.6101C>T;NM_014239.3:c.433+310C>T 226652719 114492484 pilot_1_YRI_8462402_chr14_74540465 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75470742G>A;NG_013333.1:g.6131G>A;NM_014239.3:c.433+340G>A 463901954 189692275 20101123_snps_10069184_chr14_75470742 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75470759C>T;NG_013333.1:g.6148C>T;NM_014239.3:c.433+357C>T 211539653 80223558 YRI.trio.3.2010_1230379_chr14_74540512 4.10e-03 2010.03.30 2010.03.30 2009.12.01 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75470759C>T;NG_013333.1:g.6148C>T;NM_014239.3:c.433+357C>T 226652720 80223558 pilot_1_YRI_8462403_chr14_74540512 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 KWOK 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 232975 175042 OVLP-000621-114156 3.71e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 466209 175042 AC006530.4_154194 3.71e-01 2000.07.12 2004.04.07 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 1270621 175042 OVLP-000804-229016 3.71e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 1639836 175042 OVLP-000925-384711 3.71e-01 2000.10.04 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 6776236 175042 NT_026437.9_38781564 3.71e-01 2003.02.13 2003.10.10 2000.07.12 2012.11.28 137 BCM_SSAHASNP 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 10742628 175042 chr14.NT_026437.10_55390874 3.71e-01 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 19293618 175042 CSHL-HuDD-200402.chr14.NT_026437.10_55390874 3.71e-01 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 ABI 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 43640266 175042 hCV2178420 3.71e-01 2005.07.18 2006.11.03 2000.07.12 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 46562641 175042 PS04672001 3.71e-01 2005.08.01 2005.08.01 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 82842786 175042 Cor19240_SNV_20070510.chr14_74540586 3.71e-01 2007.12.03 2007.12.03 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 89996292 175042 JWB-0793633 3.71e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 103198832 175042 BGI_rs175042 3.71e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 113537012 175042 NA19240_2008_12_16_2758953_chr14_74540586 3.71e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 118584565 175042 NA18507_000069281_NCBI36.1_chr14_74540586 3.71e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 134052300 175042 ENSSNP7133866 3.71e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 155985582 175042 GMI_SNP_24624221 3.71e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 161674519 175042 ENSSNP1029779 3.71e-01 2009.09.25 2009.09.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 168313687 175042 NA07022_36_chr14_74540586 3.71e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 169947299 175042 NA19240_36_chr14_74540586 3.71e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 171324710 175042 NA20431_36_chr14_74540586 3.71e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 200268672 175042 BUSHMAN-chr14-74540585 3.71e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 226652721 175042 pilot_1_YRI_8462404_chr14_74540586 3.71e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 236604355 175042 pilot_1_CEU_6208984_chr14_74540586 3.71e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 243025685 175042 pilot_1_CHB+JPT_4910762_chr14_74540586 3.71e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 282065078 175042 GMI_AK_SNP_6385467 3.71e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 8892 NC_000014.8:g.75470833A>T;NG_013333.1:g.6222A>T;NM_014239.3:c.433+431A>T 291630035 175042 SNP_1136393_chr14_74540586 3.71e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471129C>G;NG_013333.1:g.6518C>G;NM_014239.3:c.434-311C>G 338453129 139950791 20100804_snps_10096670_chr14_75471129 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 50291048 34675328 INDEL_GP35_WGS_550580 4.06e-01 2006.01.24 2006.01.24 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981734 34675328 INDEL_GP36_2008a_1375732_0 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981737 34675328 INDEL_GP36_2008a_1375732_1 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981741 34675328 INDEL_GP36_2008a_1375732_2 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981745 34675328 INDEL_GP36_2008a_1375732_3 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981748 34675328 INDEL_GP36_2008a_1375732_4 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981750 34675328 INDEL_GP36_2008a_1375732_5 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981752 34675328 INDEL_GP36_2008a_1375732_6 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 101981754 34675328 INDEL_GP36_2008a_1375732_7 4.06e-01 2008.05.18 2008.05.18 2006.03.14 2012.11.28 137 BL 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 256173708 34675328 SNP3796_14_74540930 4.06e-01 2010.08.20 2010.08.20 2006.03.14 2012.11.28 137 GMI 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 289230606 34675328 GMI_AK_INDEL_904062 4.06e-01 2010.12.28 2011.12.29 2006.03.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 327620995 34675328 JPTCHB_chr14_74540930_indel 4.06e-01 2011.03.12 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 327734488 34675328 CEU_chr14_74540930_indel 4.06e-01 2011.03.12 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 328141303 34675328 YRI_chr14_74540930_indel 4.06e-01 2011.03.13 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471178_75471185delGAGACCAG;NG_013333.1:g.6567_6574delGAGACCAG;NM_014239.3:c.434-262_434-255delGAGACCAG 498788726 34675328 20110316_indels_chr14_75471177_75471184 4.06e-01 2012.03.19 2012.03.19 2006.03.14 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 50157892 33926975 INDEL_GP35_WGS_378621 2006.01.24 2006.01.24 2006.03.13 2011.10.06 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 50313203 33926975 INDEL_GP35_WGS_579337 2006.01.24 2006.01.24 2006.03.13 2011.10.06 137 HGSV 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 81696874 33926975 Cor18555_DIV_20070510.chr14_74540933-74540942_1 2007.12.01 2007.12.01 2006.03.13 2011.10.06 137 HGSV 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 81874521 33926975 Cor18555_DIV_20070510.chr14_74540933-74540942_2 2007.12.01 2007.12.01 2006.03.13 2011.10.06 137 HGSV 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 82099689 33926975 Cor18555_DIV_20070510.chr14_74540933-74540942_3 2007.12.02 2007.12.02 2006.03.13 2011.10.06 137 HGSV 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 82301128 33926975 Cor18555_DIV_20070510.chr14_74540933-74540942_4 2007.12.02 2007.12.02 2006.03.13 2011.10.06 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 95645728 33926975 1104685290321 2008.03.22 2008.12.03 2006.03.13 2011.10.06 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 99860844 33926975 INDEL_GP36_2007a_665807_0 2008.05.06 2008.05.06 2006.03.13 2011.10.06 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 100752667 33926975 INDEL_GP36_2008a_665807_1 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 100752670 33926975 INDEL_GP36_2008a_665807_2 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 DEVINE_LAB 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 100752671 33926975 INDEL_GP36_2008a_665807_3 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 PJP 8892 NC_000014.8:g.75471181_75471188delACCAGGAG;NG_013333.1:g.6570_6577delACCAGGAG;NM_014239.3:c.434-259_434-252delACCAGGAG 294839098 33926975 DIP_276802_chr14_74540934 2011.01.22 2011.01.22 2006.03.13 2011.10.06 137 SC_SNP 8892 NC_000014.8:g.75471290C>T;NG_013333.1:g.6679C>T;NM_014239.3:c.434-150C>T 18302566 12147373 SC-CHR1_NA07340-200402.chr14.NT_026437.10_55391331 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75471316G>A;NG_013333.1:g.6705G>A;NM_014239.3:c.434-124G>A 226652722 116382375 pilot_1_YRI_8462405_chr14_74541069 1.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 8892 NC_000014.8:g.75471317G>A;NG_013333.1:g.6706G>A;NM_014239.3:c.434-123G>A 13997185 10138123 chr14.NT_026437.10_55391358 2.15e-02 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471317G>A;NG_013333.1:g.6706G>A;NM_014239.3:c.434-123G>A 226652723 10138123 pilot_1_YRI_8462406_chr14_74541070 2.15e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471370_75471373delATAT;NG_013333.1:g.6759_6762delATAT;NM_014239.3:c.434-70_434-67delATAT 101659135 68035336 INDEL_GP36_2008a_1110839_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75471370_75471373delATAT;NG_013333.1:g.6759_6762delATAT;NM_014239.3:c.434-70_434-67delATAT 101659138 68035336 INDEL_GP36_2008a_1110839_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 SC_JCM 8892 NC_000014.8:g.75471393_75471394insA;NC_000014.8:g.75471393_75471394insT;NG_013333.1:g.6782_6783insA;NG_013333.1:g.6782_6783insT;NM_014239.3:c.434-47_434-46insA;NM_014239.3:c.434-47_434-46insT 469809 369376 AC006530.4_154755 2000.07.12 2003.10.10 2000.07.17 2011.10.06 137 HGSV 8892 NC_000014.8:g.75471393_75471399delTTTTTTT;NG_013333.1:g.6782_6788delTTTTTTT;NM_014239.3:c.434-47_434-41delTTTTTTT 79851680 61339588 Cor18507_DIV_20070510.chr14_74541167-74541175_1 2007.11.23 2007.11.23 2007.12.16 2011.07.08 137 HGSV 8892 NC_000014.8:g.75471393_75471399delTTTTTTT;NG_013333.1:g.6782_6788delTTTTTTT;NM_014239.3:c.434-47_434-41delTTTTTTT 81874527 61339588 Cor18555_DIV_20070510.chr14_74541167-74541175_1 2007.12.01 2007.12.01 2007.12.16 2011.07.08 137 HGSV 8892 NC_000014.8:g.75471393_75471399delTTTTTTT;NG_013333.1:g.6782_6788delTTTTTTT;NM_014239.3:c.434-47_434-41delTTTTTTT 82301133 61339588 Cor18555_DIV_20070510.chr14_74541167-74541175_2 2007.12.02 2007.12.02 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75471393delT;NC_000014.8:g.75471393delTinsTTT;NC_000014.8:g.75471393delTinsTTTTTTTTTTTTT;NG_013333.1:g.6782delT;NG_013333.1:g.6782delTinsTTT;NG_013333.1:g.6782delTinsTTTTTTTTTTTTT;NM_014239.3:c.434-47delT;NM_014239.3:c.434-47delTinsTTT;NM_014239.3:c.434-47delTinsTTTTTTTTTTTTT 95645730 71119340 1104685290319 2008.03.22 2008.12.03 2009.02.13 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471393delT;NC_000014.8:g.75471393delTinsTTT;NC_000014.8:g.75471393delTinsTTTTTTTTTTTTT;NG_013333.1:g.6782delT;NG_013333.1:g.6782delTinsTTT;NG_013333.1:g.6782delTinsTTTTTTTTTTTTT;NM_014239.3:c.434-47delT;NM_014239.3:c.434-47delTinsTTT;NM_014239.3:c.434-47delTinsTTTTTTTTTTTTT 102004425 71119340 INDEL_GP36_2008a_2911346_0 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 SSAHASNP 8892 NC_000014.8:g.75471394_75471395insA;NC_000014.8:g.75471394_75471395insT;NG_013333.1:g.6783_6784insA;NG_013333.1:g.6783_6784insT;NM_014239.3:c.434-46_434-45insA;NM_014239.3:c.434-46_434-45insT 35360617 28592148 TA-079.chr14_74541148 2005.03.11 2005.05.24 2012.12.05 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75471370delA;NC_000014.8:g.75471370delAinsATATAT;NG_013333.1:g.6759delA;NG_013333.1:g.6759delAinsATATAT;NM_014239.3:c.434-70delA;NM_014239.3:c.434-70delAinsATATAT 95645729 71119339 1104685290320 2008.03.22 2008.12.03 2009.02.13 2011.07.08 137 GMI 8892 NC_000014.8:g.75471394T>A;NG_013333.1:g.6783T>A;NM_014239.3:c.434-46T>A 282065079 201498750 GMI_AK_SNP_6385468 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 8892 NC_000014.8:g.75471396T>A;NG_013333.1:g.6785T>A;NM_014239.3:c.434-44T>A 282065080 199617675 GMI_AK_SNP_6385469 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 8892 NC_000014.8:g.75471401T>A;NG_013333.1:g.6790T>A;NM_014239.3:c.434-39T>A 282065081 200354660 GMI_AK_SNP_6385470 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 8892 NC_000014.8:g.75471405T>A;NG_013333.1:g.6794T>A;NM_014239.3:c.434-35T>A 282065082 201252172 GMI_AK_SNP_6385471 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75471408T>A;NG_013333.1:g.6797T>A;NM_014239.3:c.434-32T>A 96869012 71426992 1103649100149 2008.03.27 2008.03.27 2009.02.13 2012.11.28 137 GMI 8892 NC_000014.8:g.75471408T>A;NG_013333.1:g.6797T>A;NM_014239.3:c.434-32T>A 282065083 71426992 GMI_AK_SNP_6385472 2010.12.16 2010.12.16 2009.02.13 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 50313204 36048646 INDEL_GP35_WGS_579338 2006.01.24 2006.01.24 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 99619727 36048646 INDEL_GP36_2007a_665808_0 2008.05.05 2008.05.05 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 101010589 36048646 INDEL_GP36_2008a_1110198_0 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 101010592 36048646 INDEL_GP36_2008a_1110198_1 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 101010593 36048646 INDEL_GP36_2008a_1110198_2 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471418delT;NC_000014.8:g.75471418delTinsTTT;NC_000014.8:g.75471418delTinsTTTTTTT;NG_013333.1:g.6807delT;NG_013333.1:g.6807delTinsTTT;NG_013333.1:g.6807delTinsTTTTTTT;NM_014239.3:c.434-22delT;NM_014239.3:c.434-22delTinsTTT;NM_014239.3:c.434-22delTinsTTTTTTT 101010596 36048646 INDEL_GP36_2008a_1110198_3 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 DEVINE_LAB 8892 NC_000014.8:g.75471393_75471394insTTTTTT;NG_013333.1:g.6782_6783insTTTTTT;NM_014239.3:c.434-47_434-46insTTTTTT 100157322 71839972 INDEL_GP36_2008a_1887338_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75471424A>G;NG_013333.1:g.6813A>G;NM_014239.3:c.434-16A>G 463901955 182322399 20101123_snps_10069185_chr14_75471424 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471424A>G;NG_013333.1:g.6813A>G;NM_014239.3:c.434-16A>G 491072746 182322399 20110521_exome_580544_chr14_75471424 6.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75471429C>T;NG_013333.1:g.6818C>T;NM_014239.3:c.434-11C>T 491690631 200995477 SNV-chr14-74541182 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 ABI 8892 NC_000014.8:g.75471453G>A;NG_013333.1:g.6842G>A;NM_014239.3:c.447G>A;NP_055054.1:p.Glu149= 43601243 35602124 hCV26350455 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 ENSEMBL 8892 NC_000014.8:g.75471453G>A;NG_013333.1:g.6842G>A;NM_014239.3:c.447G>A;NP_055054.1:p.Glu149= 161674520 35602124 ENSSNP1029780 2009.09.25 2009.09.25 2006.03.15 2011.07.08 137 CSHL-HAPMAP 8892 NC_000014.8:g.75471497T>G;NG_013333.1:g.6886T>G;NM_014239.3:c.491T>G;NP_055054.1:p.Val164Gly 16660368 11628782 CSHL-HuAA-200402.chr14.NT_026437.10_55391538 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 ILLUMINA 8892 NC_000014.8:g.75471497T>G;NG_013333.1:g.6886T>G;NM_014239.3:c.491T>G;NP_055054.1:p.Val164Gly 74896772 11628782 ILMN_Human_1M_rs11628782 2007.08.29 2007.08.29 2004.02.28 2011.09.09 137 KRIBB_YJKIM 8892 NC_000014.8:g.75471497T>G;NG_013333.1:g.6886T>G;NM_014239.3:c.491T>G;NP_055054.1:p.Val164Gly 119696875 11628782 KHS1811985 2009.02.05 2009.02.05 2004.02.28 2011.09.09 137 ILLUMINA 8892 NC_000014.8:g.75471497T>G;NG_013333.1:g.6886T>G;NM_014239.3:c.491T>G;NP_055054.1:p.Val164Gly 171359554 11628782 Human1M-Duov3_B_rs11628782-128_T_R_1513921400 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 NHLBI-ESP 8892 NC_000014.8:g.75471504G>A;NG_013333.1:g.6893G>A;NM_014239.3:c.498G>A;NP_055054.1:p.Met166Ile 342392078 139680549 ESP2500-chr14-75471504 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 OMICIA 8892 NC_000014.7:g.74541271C>T NC_000014.8:g.75471518C>T;NG_013333.1:g.6907C>T;NM_014239.3:c.512C>T;NP_055054.1:p.Ser171Phe 244239250 104894428 2010_April_001_005_EIF2B2_606454_0004 germline pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.512C>T NC_000014.8:g.75471518C>T;NG_013333.1:g.6907C>T;NM_014239.3:c.512C>T;NP_055054.1:p.Ser171Phe 252440471 104894428 CACH3_3 germline pathogenic 2010.07.08 2010.07.08 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 8892 NP_055054.1:p.SER171PHE NC_000014.8:g.75471518C>T;NG_013333.1:g.6907C>T;NM_014239.3:c.512C>T;NP_055054.1:p.Ser171Phe 262861215 104894428 13812 germline pathogenic 2010.09.23 2010.09.23 2010.05.28 2012.09.29 137 OMICIA 8892 NC_000014.7:g.74541306C>T NC_000014.8:g.75471553C>T;NG_013333.1:g.6942C>T;NM_014239.3:c.547C>T;NP_055054.1:p.Arg183Ter 244239249 104894427 2010_April_001_004_EIF2B2_606454_0003 germline pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.547C>T NC_000014.8:g.75471553C>T;NG_013333.1:g.6942C>T;NM_014239.3:c.547C>T;NP_055054.1:p.Arg183Ter 252440472 104894427 CACH3_4 germline pathogenic 2010.07.08 2010.07.08 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 8892 NP_055054.1:p.ARG183TER NC_000014.8:g.75471553C>T;NG_013333.1:g.6942C>T;NM_014239.3:c.547C>T;NP_055054.1:p.Arg183Ter 262861214 104894427 13811 germline pathogenic 2010.09.23 2010.09.23 2010.05.28 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.548delG NC_000014.8:g.75471554delG;NG_013333.1:g.6943delG;NM_014239.3:c.548delG;NP_055054.1:p.Arg183Glnfs 252440473 113994010 CACH3_5 pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.586C>T NC_000014.8:g.75471592C>T;NG_013333.1:g.6981C>T;NM_014239.3:c.586C>T;NP_055054.1:p.Pro196Ser 252440474 113994011 CACH3_6 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 1000GENOMES 8892 NC_000014.8:g.75471740G>A;NG_013333.1:g.7129G>A;NM_014239.3:c.597+137G>A 463901956 187702093 20101123_snps_10069186_chr14_75471740 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 21214014 12894419 WGSA-200403-chr14.chr14.NT_026437.10_55391843 4.56e-01 2004.03.19 2004.03.19 2004.04.05 2012.11.28 137 ABI 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 40463511 12894419 hCV2178419 4.56e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HGSV 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 80988170 12894419 Cor18507_SNV_20070510.chr14_74541555 4.56e-01 2007.11.27 2007.11.27 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 96869013 12894419 1103649100151 4.56e-01 2008.03.27 2008.03.27 2004.04.05 2012.11.28 137 BGI 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 103198833 12894419 BGI_rs12894419 4.56e-01 2008.06.05 2009.06.18 2004.04.05 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 118584570 12894419 NA18507_000069282_NCBI36.1_chr14_74541555 4.56e-01 2009.01.21 2009.01.21 2004.04.05 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 137000187 12894419 ENSSNP1029781 4.56e-01 2009.05.16 2009.10.15 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 168313697 12894419 NA07022_36_chr14_74541555 4.56e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 169947314 12894419 NA19240_36_chr14_74541555 4.56e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 200268676 12894419 BUSHMAN-chr14-74541554 4.56e-01 2010.03.07 2010.03.07 2004.04.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 226652725 12894419 pilot_1_YRI_8462408_chr14_74541555 4.56e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 236604356 12894419 pilot_1_CEU_6208985_chr14_74541555 4.56e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 243025686 12894419 pilot_1_CHB+JPT_4910763_chr14_74541555 4.56e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 255105132 12894419 SNP60307_14_74541555 4.56e-01 2010.08.20 2010.08.20 2004.04.05 2012.11.28 137 GMI 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 282065084 12894419 GMI_AK_SNP_6385473 4.56e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 291630036 12894419 SNP_1136394_chr14_74541555 4.56e-01 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 483210803 12894419 HumanOmni2.5-4v1_D_kgp3649917-0_B_F_1821622046 4.56e-01 2012.02.02 2012.02.02 2004.04.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75471802C>T;NG_013333.1:g.7191C>T;NM_014239.3:c.597+199C>T 483332088 12894419 HumanOmni2.5-4v1_B_SNP14-74541555-0_B_F_1622090604 4.56e-01 2012.02.02 2012.02.02 2004.04.05 2012.11.28 137 KWOK 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 232976 175043 OVLP-000621-114158 3.36e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 512925 175043 AL049780.2_156652 3.36e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 1270622 175043 OVLP-000804-229018 3.36e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 1639837 175043 OVLP-000925-384713 3.36e-01 2000.10.04 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 3557260 175043 AC006530.4_155171 3.36e-01 2001.09.24 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 19297227 175043 CSHL-HuDD-200402.chr14.NT_026437.10_55391844 3.36e-01 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 ABI 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 40448978 175043 hCV26350456 3.36e-01 2005.07.17 2005.07.17 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 89996294 175043 JWB-0793634 3.36e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 103198834 175043 BGI_rs175043 3.36e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 118584574 175043 NA18507_000069283_NCBI36.1_chr14_74541556 3.36e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 134052302 175043 ENSSNP10912417 3.36e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 155985591 175043 GMI_SNP_25901375 3.36e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 161674521 175043 ENSSNP1029782 3.36e-01 2009.09.25 2009.09.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 168313709 175043 NA07022_36_chr14_74541556 3.36e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 171324719 175043 NA20431_36_chr14_74541556 3.36e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 200268679 175043 BUSHMAN-chr14-74541555 3.36e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 226652726 175043 pilot_1_YRI_8462409_chr14_74541556 3.36e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 236604357 175043 pilot_1_CEU_6208986_chr14_74541556 3.36e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 243025687 175043 pilot_1_CHB+JPT_4910764_chr14_74541556 3.36e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 255105137 175043 SNP60308_14_74541556 3.36e-01 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75471803G>A;NG_013333.1:g.7192G>A;NM_014239.3:c.597+200G>A 282065085 175043 GMI_AK_SNP_6385474 3.36e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471850C>T;NG_013333.1:g.7239C>T;NM_014239.3:c.597+247C>T 243025688 116941150 pilot_1_CHB+JPT_4910765_chr14_74541603 8.20e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 ENSEMBL 8892 NC_000014.8:g.75471881A>G;NG_013333.1:g.7270A>G;NM_014239.3:c.597+278A>G 132324336 80318774 ENSSNP1003859 2009.05.11 2009.10.15 2009.12.01 2011.09.09 137 GMI 8892 NC_000014.8:g.75471979G>A;NG_013333.1:g.7368G>A;NM_014239.3:c.597+376G>A 282065086 143922734 GMI_AK_SNP_6385475 6.40e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75471979G>A;NG_013333.1:g.7368G>A;NM_014239.3:c.597+376G>A 338453130 143922734 20100804_snps_10096671_chr14_75471979 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472016G>A;NG_013333.1:g.7405G>A;NM_014239.3:c.597+413G>A 338453131 146840061 20100804_snps_10096672_chr14_75472016 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 8892 NC_000014.8:g.75472046C>T;NG_013333.1:g.7435C>T;NM_014239.3:c.597+443C>T 21153110 12878483 WGSA-200403-chr14.chr14.NT_026437.10_55392087 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 8892 NC_000014.8:g.75472047T>A;NG_013333.1:g.7436T>A;NM_014239.3:c.597+444T>A 21157686 12879714 WGSA-200403-chr14.chr14.NT_026437.10_55392088 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 KWOK 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 232977 175044 OVLP-000621-114159 3.45e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 511376 175044 AL049780.2_156346 3.45e-01 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 1270623 175044 OVLP-000804-229019 3.45e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 1639838 175044 OVLP-000925-384714 3.45e-01 2000.10.04 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 3877682 175044 AL049780.3_156366 3.45e-01 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 24606772 175044 afd0204051 3.45e-01 2004.08.21 2004.09.13 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 89996295 175044 JWB-0793635 3.45e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 103198835 175044 BGI_rs175044 3.45e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 118584579 175044 NA18507_000069284_NCBI36.1_chr14_74541862 3.45e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 134052305 175044 ENSSNP7305007 3.45e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 155985598 175044 GMI_SNP_65305001 3.45e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 168313719 175044 NA07022_36_chr14_74541862 3.45e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 171324728 175044 NA20431_36_chr14_74541862 3.45e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 200268684 175044 BUSHMAN-chr14-74541861 3.45e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 211539654 175044 YRI.trio.3.2010_1230380_chr14_74541862 3.45e-01 2010.03.30 2010.03.30 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 226652727 175044 pilot_1_YRI_8462410_chr14_74541862 3.45e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 236604358 175044 pilot_1_CEU_6208987_chr14_74541862 3.45e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 243025689 175044 pilot_1_CHB+JPT_4910766_chr14_74541862 3.45e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 255105141 175044 SNP60309_14_74541862 3.45e-01 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 282065087 175044 GMI_AK_SNP_6385476 3.45e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 482974613 175044 HumanOmni2.5-4v1_D_kgp2468608-0_B_R_1807413920 3.45e-01 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472109G>A;NG_013333.1:g.7498G>A;NM_014239.3:c.598-460G>A 483332090 175044 HumanOmni2.5-4v1_B_SNP14-74541862-0_B_R_1627611384 3.45e-01 2012.02.02 2012.02.02 2000.07.12 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 23654287 17102954 afd0204053 1.97e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 66291419 17102954 SNP_A-1823623 1.97e-02 2006.10.29 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 75146324 17102954 ILMN_Human_1M_rs17102954 1.97e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 75956399 17102954 AFFY_6_1M_SNP_A-1823623 1.97e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 83192065 17102954 KHS415511 1.97e-02 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 169650703 17102954 GenomeWideSNP_5_SNP_A-1823623 1.97e-02 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 172746160 17102954 Human1M-Duov3_B_rs17102954-128_B_R_1514093737 1.97e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 226652728 17102954 pilot_1_YRI_8462411_chr14_74542023 1.97e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472270G>A;NG_013333.1:g.7659G>A;NM_014239.3:c.598-299G>A 244282486 17102954 CVDSNP55v1_A_rs17102954 1.97e-02 2010.06.10 2010.06.10 2004.09.20 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472392G>A;NG_013333.1:g.7781G>A;NM_014239.3:c.598-177G>A 226652729 115053829 pilot_1_YRI_8462412_chr14_74542145 1.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 YUSUKE 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 4928787 3742781 IMS-JST093964 6.40e-03 2002.07.29 2003.10.10 2002.08.28 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 66064643 3742781 SNP_A-1866471 6.40e-03 2006.10.27 2008.03.31 2002.08.28 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 75987446 3742781 AFFY_6_1M_SNP_A-1866471 6.40e-03 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 81944454 3742781 KHS164574 6.40e-03 2007.12.01 2007.12.01 2002.08.28 2012.11.28 137 AFFY 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 170057921 3742781 GenomeWideSNP_5_SNP_A-1866471 6.40e-03 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 GMI 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 282065088 3742781 GMI_AK_SNP_6385477 6.40e-03 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472502C>G;NG_013333.1:g.7891C>G;NM_014239.3:c.598-67C>G 338453132 3742781 20100804_snps_10096673_chr14_75472502 6.40e-03 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472533C>T;NG_013333.1:g.7922C>T;NM_014239.3:c.598-36C>T 463901957 193280751 20101123_snps_10069187_chr14_75472533 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472533C>T;NG_013333.1:g.7922C>T;NM_014239.3:c.598-36C>T 491072747 193280751 20110521_exome_580545_chr14_75472533 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472551C>T;NG_013333.1:g.7940C>T;NM_014239.3:c.598-18C>T 463901958 183965607 20101123_snps_10069188_chr14_75472551 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472551C>T;NG_013333.1:g.7940C>T;NM_014239.3:c.598-18C>T 491072748 183965607 20110521_exome_580546_chr14_75472551 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75472569G>A;NG_013333.1:g.7958G>A;NM_014239.3:c.598G>A;NP_055054.1:p.Gly200Ser 342392079 149784396 ESP2500-chr14-75472569 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GENEREVIEWS 8892 NM_014239.2:c.599G>T NC_000014.8:g.75472570G>C;NC_000014.8:g.75472570G>T;NG_013333.1:g.7959G>C;NG_013333.1:g.7959G>T;NM_014239.3:c.599G>C;NM_014239.3:c.599G>T;NP_055054.1:p.Gly200Ala;NP_055054.1:p.Gly200Val 252440475 113994012 CACH3_7 germline untested 2010.07.08 2010.07.08 2010.07.08 2012.11.28 137 GENEREVIEWS 8892 NM_014239.2:c.599G>C NC_000014.8:g.75472570G>C;NC_000014.8:g.75472570G>T;NG_013333.1:g.7959G>C;NG_013333.1:g.7959G>T;NM_014239.3:c.599G>C;NM_014239.3:c.599G>T;NP_055054.1:p.Gly200Ala;NP_055054.1:p.Gly200Val 252440476 113994012 CACH3_8 germline untested 2010.07.08 2010.07.08 2010.07.08 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75472570G>C;NC_000014.8:g.75472570G>T;NG_013333.1:g.7959G>C;NG_013333.1:g.7959G>T;NM_014239.3:c.599G>C;NM_014239.3:c.599G>T;NP_055054.1:p.Gly200Ala;NP_055054.1:p.Gly200Val 342392080 113994012 ESP2500-chr14-75472570 germline untested 2011.03.26 2011.03.26 2010.07.08 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75472570G>C;NC_000014.8:g.75472570G>T;NG_013333.1:g.7959G>C;NG_013333.1:g.7959G>T;NM_014239.3:c.599G>C;NM_014239.3:c.599G>T;NP_055054.1:p.Gly200Ala;NP_055054.1:p.Gly200Val 491487492 113994012 splice_203718_chr_14_75472570 germline untested 2012.03.05 2012.03.05 2010.07.08 2012.11.28 137 GENEREVIEWS 8892 NM_014239.2:c.607_612delinsTG NC_000014.8:g.75472578_75472583delATGGCTinsTG;NG_013333.1:g.7967_7972delATGGCTinsTG;NM_014239.3:c.607_612delATGGCTinsTG;NP_055054.1:p.Met203_Ala204delinsTrpfs 252440477 113994014 CACH3_9 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 ILLUMINA 8892 NC_000014.8:g.75472592G>T;NG_013333.1:g.7981G>T;NM_014239.3:c.621G>T;NP_055054.1:p.Leu207Phe 161050035 75302306 HumanOmni1-Quad_v1-0_B_SNP14-74542345-128_T_R_1588013496 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75472592G>T;NG_013333.1:g.7981G>T;NM_014239.3:c.621G>T;NP_055054.1:p.Leu207Phe 479340848 75302306 HumanOmni1-Quad_v1-0_C_kgp22851286-0_T_R_1862724809 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75472601A>G;NG_013333.1:g.7990A>G;NM_014239.3:c.630A>G;NP_055054.1:p.Ala210= 200268689 111702244 BUSHMAN-chr14-74542353 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 OMICIA 8892 NC_000014.7:g.74542362A>G NC_000014.8:g.75472609A>G;NG_013333.1:g.7998A>G;NM_014239.3:c.638A>G;NP_055054.1:p.Glu213Gly 244239247 104894425 2010_April_001_002_EIF2B2_606454_0001 germline pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.638A>G NC_000014.8:g.75472609A>G;NG_013333.1:g.7998A>G;NM_014239.3:c.638A>G;NP_055054.1:p.Glu213Gly 252440478 104894425 CACH3_10 germline pathogenic 2010.07.08 2010.07.08 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 8892 NP_055054.1:p.E213G NC_000014.8:g.75472609A>G;NG_013333.1:g.7998A>G;NM_014239.3:c.638A>G;NP_055054.1:p.Glu213Gly 262861212 104894425 13809 germline pathogenic 2010.09.23 2010.09.23 2010.05.28 2012.09.29 137 NHLBI-ESP 8892 NC_000014.8:g.75472624C>G;NG_013333.1:g.8013C>G;NM_014239.3:c.653C>G;NP_055054.1:p.Thr218Ser 342392081 148575518 ESP2500-chr14-75472624 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 8892 NC_000014.8:g.75472635A>G;NG_013333.1:g.8024A>G;NM_014239.3:c.664A>G;NP_055054.1:p.Ile222Val 342392082 142977089 ESP2500-chr14-75472635 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75472635A>G;NG_013333.1:g.8024A>G;NM_014239.3:c.664A>G;NP_055054.1:p.Ile222Val 489035810 142977089 20110521_exome_191654_chr14_75472635 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75472635A>G;NG_013333.1:g.8024A>G;NM_014239.3:c.664A>G;NP_055054.1:p.Ile222Val 491487493 142977089 nonsyn_203719_chr_14_75472635 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75472646T>G;NG_013333.1:g.8035T>G;NM_014239.3:c.675T>G;NP_055054.1:p.Val225= 342392083 147712595 ESP2500-chr14-75472646 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75472740T>C;NG_013333.1:g.8129T>C;NM_014239.3:c.693+76T>C 463901959 188519745 20101123_snps_10069189_chr14_75472740 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75472920T>G;NG_013333.1:g.8309T>G;NM_014239.3:c.693+256T>G 338453133 143266808 20100804_snps_10096674_chr14_75472920 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75472937T>C;NG_013333.1:g.8326T>C;NM_014239.3:c.693+273T>C 463901960 192912304 20101123_snps_10069190_chr14_75472937 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75473004C>T;NG_013333.1:g.8393C>T;NM_014239.3:c.694-276C>T 463901961 184877747 20101123_snps_10069191_chr14_75473004 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75473179C>T;NG_013333.1:g.8568C>T;NM_014239.3:c.694-101C>T 226652730 114041397 pilot_1_YRI_8462413_chr14_74542932 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75473221A>T;NG_013333.1:g.8610A>T;NM_014239.3:c.694-59A>T 338453134 145488081 20100804_snps_10096675_chr14_75473221 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75473311A>G;NG_013333.1:g.8700A>G;NM_014239.3:c.725A>G;NP_055054.1:p.Asn242Ser 489035812 200594436 20110521_exome_191655_chr14_75473311 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GENEREVIEWS 8892 NM_014239.2:c.818A>G NC_000014.8:g.75473404A>G;NG_013333.1:g.8793A>G;NM_014239.3:c.818A>G;NP_055054.1:p.Lys273Arg 252440479 113994016 CACH3_11 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 1000GENOMES 8892 NC_000014.8:g.75473428C>G;NG_013333.1:g.8817C>G;NM_014239.3:c.831+11C>G 489035814 199593472 20110521_exome_191656_chr14_75473428 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75473582T>A;NG_013333.1:g.8971T>A;NM_014239.3:c.831+165T>A 226652731 116471147 pilot_1_YRI_8462414_chr14_74543335 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75473604C>T;NG_013333.1:g.8993C>T;NM_014239.3:c.831+187C>T 226652732 80131755 pilot_1_YRI_8462415_chr14_74543357 7.80e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75474114A>G;NG_013333.1:g.9503A>G;NM_014239.3:c.832-311A>G 338453135 148852962 20100804_snps_10096676_chr14_75474114 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75474313A>G;NG_013333.1:g.9702A>G;NM_014239.3:c.832-112A>G 463901962 188838807 20101123_snps_10069192_chr14_75474313 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75474316A>G;NG_013333.1:g.9705A>G;NM_014239.3:c.832-109A>G 463901963 191367130 20101123_snps_10069193_chr14_75474316 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 8892 NC_000014.8:g.75474428C>T;NG_013333.1:g.9817C>T;NM_014239.3:c.835C>T;NP_055054.1:p.Pro279Ser 342392084 142553958 ESP2500-chr14-75474428 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GENEREVIEWS 8892 NM_014239.2:c.871C>T NC_000014.8:g.75474464C>T;NG_013333.1:g.9853C>T;NM_014239.3:c.871C>T;NP_055054.1:p.Pro291Ser 252440480 113994017 CACH3_12 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 1000GENOMES 8892 NC_000014.8:g.75474617A>G;NG_013333.1:g.10006A>G;NM_014239.3:c.898+126A>G 463901964 183903269 20101123_snps_10069194_chr14_75474617 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75474731G>A;NG_013333.1:g.10120G>A;NM_014239.3:c.898+240G>A 243025690 117759630 pilot_1_CHB+JPT_4910767_chr14_74544484 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 MARSHFIELD 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 3255362 2307511 MID-1315 2001.09.12 2004.04.07 2001.09.28 2012.11.28 137 HGSV 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 77893844 2307511 Cor12156_DIV_20070510.chr14_74544537-74544546_1 2007.10.15 2007.10.15 2001.09.28 2012.11.28 137 HGSV 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 83855403 2307511 Cor18517_DIV_20070510.chr14_74544537-74544546_1 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 102134201 2307511 INDEL_GP36_2008a_1720403_0 2008.05.18 2008.05.18 2001.09.28 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 102134203 2307511 INDEL_GP36_2008a_1720403_1 2008.05.18 2008.05.18 2001.09.28 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 102134205 2307511 INDEL_GP36_2008a_1720403_2 2008.05.18 2008.05.18 2001.09.28 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 103564930 2307511 JWB-4042252 2008.06.06 2009.05.11 2001.09.28 2012.11.28 137 GMI 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 155594217 2307511 GMI_INDEL-134194 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 GMI 8892 NC_000014.8:g.75474785A>T;NG_013333.1:g.10174A>T;NM_014239.3:c.898+294A>T 155985603 79619895 GMI_SNP_189081090 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 193360427 2307511 BUSHMAN-chr14-74544537-74544545 2010.02.16 2010.02.16 2001.09.28 2012.11.28 137 GMI 8892 NC_000014.8:g.75474785A>T;NG_013333.1:g.10174A>T;NM_014239.3:c.898+294A>T 282065089 79619895 GMI_AK_SNP_6385478 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 289230607 2307511 GMI_AK_INDEL_904063 2010.12.28 2011.12.29 2001.09.28 2012.11.28 137 PJP 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 294839099 2307511 DIP_276803_chr14_74544538 2011.01.22 2011.01.22 2001.09.28 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 327621000 2307511 JPTCHB_chr14_74544537_indel 2011.03.12 2011.04.03 2001.09.28 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 327734491 2307511 CEU_chr14_74544537_indel 2011.03.12 2011.04.03 2001.09.28 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474785_75474792delATAGACAA;NG_013333.1:g.10174_10181delATAGACAA;NM_014239.3:c.898+294_898+301delATAGACAA 328141304 2307511 YRI_chr14_74544537_indel 2011.03.13 2011.04.03 2001.09.28 2012.11.28 137 GMI 8892 NC_000014.8:g.75474787A>T;NG_013333.1:g.10176A>T;NM_014239.3:c.898+296A>T 155985610 77367200 GMI_SNP_188958839 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474787A>T;NG_013333.1:g.10176A>T;NM_014239.3:c.898+296A>T 282065090 77367200 GMI_AK_SNP_6385479 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474790C>G;NG_013333.1:g.10179C>G;NM_014239.3:c.898+299C>G 155985617 78468834 GMI_SNP_188744655 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474790C>G;NG_013333.1:g.10179C>G;NM_014239.3:c.898+299C>G 282065091 78468834 GMI_AK_SNP_6385480 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474792A>T;NG_013333.1:g.10181A>T;NM_014239.3:c.898+301A>T 155985624 76834863 GMI_SNP_188922070 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75474792A>T;NG_013333.1:g.10181A>T;NM_014239.3:c.898+301A>T 282065092 76834863 GMI_AK_SNP_6385481 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474825C>T;NG_013333.1:g.10214C>T;NM_014239.3:c.898+334C>T 338453136 143429486 20100804_snps_10096677_chr14_75474825 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 8892 NC_000014.8:g.75474832G>A;NG_013333.1:g.10221G>A;NM_014239.3:c.898+341G>A 200268691 113277769 BUSHMAN-chr14-74544584 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 SC_SNP 8892 NC_000014.8:g.75474968C>T;NG_013333.1:g.10357C>T;NM_014239.3:c.898+477C>T 13429603 9646134 NT_026437.10_55395009 9.00e-04 2003.10.23 2006.10.25 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75474968C>T;NG_013333.1:g.10357C>T;NM_014239.3:c.898+477C>T 75197964 9646134 ILMN_Human_1M_rs9646134 9.00e-04 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75474968C>T;NG_013333.1:g.10357C>T;NM_014239.3:c.898+477C>T 119598568 9646134 KHS1760815 9.00e-04 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75474968C>T;NG_013333.1:g.10357C>T;NM_014239.3:c.898+477C>T 174882837 9646134 Human1M-Duov3_B_rs9646134-128_B_F_1514193548 9.00e-04 2009.10.05 2009.10.05 2003.12.05 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474968C>T;NG_013333.1:g.10357C>T;NM_014239.3:c.898+477C>T 463901965 9646134 20101123_snps_10069195_chr14_75474968 9.00e-04 2011.07.20 2011.07.20 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75474976G>A;NG_013333.1:g.10365G>A;NM_014239.3:c.898+485G>A 169947329 78604175 NA19240_36_chr14_74544729 1.47e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474976G>A;NG_013333.1:g.10365G>A;NM_014239.3:c.898+485G>A 211539656 78604175 YRI.trio.3.2010_1230381_chr14_74544729 1.47e-02 2010.03.30 2010.03.30 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75474976G>A;NG_013333.1:g.10365G>A;NM_014239.3:c.898+485G>A 226652733 78604175 pilot_1_YRI_8462416_chr14_74544729 1.47e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475130A>G;NG_013333.1:g.10519A>G;NM_014239.3:c.899-604A>G 338453137 150937766 20100804_snps_10096678_chr14_75475130 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 8892 NC_000014.8:g.75475206A>G;NG_013333.1:g.10595A>G;NM_014239.3:c.899-528A>G 200268697 113127570 BUSHMAN-chr14-74544958 2010.03.07 2010.03.07 2010.07.04 2011.09.09 137 KWOK 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 232978 175045 OVLP-000621-114161 3.70e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 537365 175045 AC006530.4_158635 3.70e-01 2000.07.12 2004.04.07 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 1270624 175045 OVLP-000804-229021 3.70e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 1639839 175045 OVLP-000925-384716 3.70e-01 2000.10.04 2004.04.07 2000.07.12 2012.11.28 137 BCM_SSAHASNP 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 10757618 175045 chr14.NT_026437.10_55395316 3.70e-01 2003.06.30 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 17529564 175045 CSHL-HuCC-200402.chr14.NT_026437.10_55395316 3.70e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 23654288 175045 afd0204059 3.70e-01 2004.08.20 2004.09.13 2000.07.12 2012.11.28 137 ABI 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 43597382 175045 hCV2178414 3.70e-01 2005.07.18 2005.07.18 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 65785867 175045 Human1-rs175045 3.70e-01 2006.10.10 2006.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 68375455 175045 imsut-riken:assay:175045:22 3.70e-01 2007.01.11 2007.01.11 2000.07.12 2012.11.28 137 CSHL-HAPMAP 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 68375456 175045 perlegen:assay:25176.204059:1 3.70e-01 2007.01.11 2007.01.16 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 75004452 175045 ILMN_Human_1M_rs175045 3.70e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 AFFY 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 76511919 175045 AFFY_6_1M_SNP_A-8373141 3.70e-01 2007.08.30 2007.08.30 2000.07.12 2012.11.28 137 HGSV 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 81847409 175045 Cor18956_SNV_20070510.chr14_74545028 3.70e-01 2007.12.01 2007.12.01 2000.07.12 2012.11.28 137 BCMHGSC_JDW 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 89996298 175045 JWB-0793636 3.70e-01 2008.02.29 2008.02.29 2000.07.12 2012.11.28 137 BGI 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 103198836 175045 BGI_rs175045 3.70e-01 2008.06.05 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 113537031 175045 NA19240_2008_12_16_2758955_chr14_74545028 3.70e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 118584585 175045 NA18507_000069285_NCBI36.1_chr14_74545028 3.70e-01 2009.01.21 2009.01.21 2000.07.12 2012.11.28 137 KRIBB_YJKIM 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 119342852 175045 KHS1505099 3.70e-01 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 134052308 175045 ENSSNP6873138 3.70e-01 2009.05.13 2009.05.15 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 155985631 175045 GMI_SNP_126279038 3.70e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 161674522 175045 ENSSNP1029783 3.70e-01 2009.09.25 2009.09.25 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 168313731 175045 NA07022_36_chr14_74545028 3.70e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 169947336 175045 NA19240_36_chr14_74545028 3.70e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 171324737 175045 NA20431_36_chr14_74545028 3.70e-01 2009.10.01 2009.10.01 2000.07.12 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 172840510 175045 Human1M-Duov3_B_rs175045-128_B_R_1513966519 3.70e-01 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 200268700 175045 BUSHMAN-chr14-74545027 3.70e-01 2010.03.07 2010.03.07 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 226652734 175045 pilot_1_YRI_8462417_chr14_74545028 3.70e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 236604360 175045 pilot_1_CEU_6208989_chr14_74545028 3.70e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 243025691 175045 pilot_1_CHB+JPT_4910768_chr14_74545028 3.70e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 255105146 175045 SNP60310_14_74545028 3.70e-01 2010.08.20 2010.08.20 2000.07.12 2012.11.28 137 GMI 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 282065093 175045 GMI_AK_SNP_6385482 3.70e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 8892 NC_000014.8:g.75475275A>C;NG_013333.1:g.10664A>C;NM_014239.3:c.899-459A>C 291630037 175045 SNP_1136395_chr14_74545028 3.70e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75475423A>G;NG_013333.1:g.10812A>G;NM_014239.3:c.899-311A>G 200268704 112186469 BUSHMAN-chr14-74545175 1.60e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475423A>G;NG_013333.1:g.10812A>G;NM_014239.3:c.899-311A>G 226652735 112186469 pilot_1_YRI_8462418_chr14_74545176 1.60e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ABI 8892 NC_000014.8:g.75475444_75475445insG;NG_013333.1:g.10833_10834insG;NM_014239.3:c.899-290_899-289insG 40467958 35607382 hCV33026079 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75475566C>T;NG_013333.1:g.10955C>T;NM_014239.3:c.899-168C>T 236604361 117225020 pilot_1_CEU_6208990_chr14_74545319 5.50e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475566C>T;NG_013333.1:g.10955C>T;NM_014239.3:c.899-168C>T 482684981 117225020 HumanOmni2.5-4v1_D_kgp22760780-0_B_F_1860494394 5.50e-03 2012.02.01 2012.02.01 2010.07.15 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475566C>T;NG_013333.1:g.10955C>T;NM_014239.3:c.899-168C>T 483332092 117225020 HumanOmni2.5-4v1_B_SNP14-74545319-0_B_F_1643466892 5.50e-03 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 GMI 8892 NC_000014.8:g.75475678T>G;NG_013333.1:g.11067T>G;NM_014239.3:c.899-56T>G 282065094 142254655 GMI_AK_SNP_6385483 9.20e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475678T>G;NG_013333.1:g.11067T>G;NM_014239.3:c.899-56T>G 338453138 142254655 20100804_snps_10096679_chr14_75475678 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475723T>G;NG_013333.1:g.11112T>G;NM_014239.3:c.899-11T>G 338453139 78900727 20100804_snps_10096680_chr14_75475723 2.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475723T>G;NG_013333.1:g.11112T>G;NM_014239.3:c.899-11T>G 491072749 78900727 20110521_exome_580547_chr14_75475723 2.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 GENEREVIEWS 8892 NM_014239.2:c.910G>T NC_000014.8:g.75475745G>T;NG_013333.1:g.11134G>T;NM_014239.3:c.910G>T;NP_055054.1:p.Glu304Ter 252440481 113994018 CACH3_13 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 1000GENOMES 8892 NC_000014.8:g.75475762T>C;NG_013333.1:g.11151T>C;NM_014239.3:c.927T>C;NP_055054.1:p.His309= 338453140 138817058 20100804_snps_10096681_chr14_75475762 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475762T>C;NG_013333.1:g.11151T>C;NM_014239.3:c.927T>C;NP_055054.1:p.His309= 491072750 138817058 20110521_exome_580548_chr14_75475762 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 OMICIA 8892 NC_000014.7:g.74545535T>A NC_000014.8:g.75475782T>A;NG_013333.1:g.11171T>A;NM_014239.3:c.947T>A;NP_055054.1:p.Val316Asp 244239248 104894426 2010_April_001_003_EIF2B2_606454_0002 germline pathogenic 2010.05.27 2010.05.28 2010.05.28 2012.09.29 137 GENEREVIEWS 8892 NM_014239.2:c.947T>A NC_000014.8:g.75475782T>A;NG_013333.1:g.11171T>A;NM_014239.3:c.947T>A;NP_055054.1:p.Val316Asp 252440482 104894426 CACH3_14 germline pathogenic 2010.07.08 2010.07.08 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 8892 NP_055054.1:p.VAL316ASP NC_000014.8:g.75475782T>A;NG_013333.1:g.11171T>A;NM_014239.3:c.947T>A;NP_055054.1:p.Val316Asp 262861213 104894426 13810 germline pathogenic 2010.09.23 2010.09.23 2010.05.28 2012.09.29 137 GOLDSTEINLAB 8892 ARRAY(0x2567c910) 507881463 200849948 14_74545568_G 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 NHLBI-ESP 8892 NC_000014.8:g.75475817A>G;NG_013333.1:g.11206A>G;NM_014239.3:c.982A>G;NP_055054.1:p.Ile328Val 342392085 145117455 ESP2500-chr14-75475817 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75475817A>G;NG_013333.1:g.11206A>G;NM_014239.3:c.982A>G;NP_055054.1:p.Ile328Val 491487494 145117455 nonsyn_203720_chr_14_75475817 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GENEREVIEWS 8892 NM_014239.2:c.986G>T NC_000014.8:g.75475821G>T;NG_013333.1:g.11210G>T;NM_014239.3:c.986G>T;NP_055054.1:p.Gly329Val 252440483 113994020 CACH3_15 germline pathogenic 2010.07.08 2010.07.08 2010.07.08 2012.09.29 137 NHLBI-ESP 8892 NC_000014.8:g.75475834T>A;NG_013333.1:g.11223T>A;NM_014239.3:c.999T>A;NP_055054.1:p.Pro333= 342392086 147596765 ESP2500-chr14-75475834 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 8892 NC_000014.8:g.75475834T>A;NG_013333.1:g.11223T>A;NM_014239.3:c.999T>A;NP_055054.1:p.Pro333= 491487495 147596765 synctl_203721_chr_14_75475834 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 8892 NC_000014.8:g.75475843C>T;NG_013333.1:g.11232C>T;NM_014239.3:c.1008C>T;NP_055054.1:p.Ile336= 342392087 140707986 ESP2500-chr14-75475843 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475843C>T;NG_013333.1:g.11232C>T;NM_014239.3:c.1008C>T;NP_055054.1:p.Ile336= 463901966 140707986 20101123_snps_10069196_chr14_75475843 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475843C>T;NG_013333.1:g.11232C>T;NM_014239.3:c.1008C>T;NP_055054.1:p.Ile336= 491072751 140707986 20110521_exome_580549_chr14_75475843 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75475894G>C;NG_013333.1:g.11283G>C;NM_014239.3:c.*3G>C 200268707 112087431 BUSHMAN-chr14-74545646 1.83e-02 2010.03.07 2010.03.07 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475894G>C;NG_013333.1:g.11283G>C;NM_014239.3:c.*3G>C 226652736 112087431 pilot_1_YRI_8462419_chr14_74545647 1.83e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475894G>C;NG_013333.1:g.11283G>C;NM_014239.3:c.*3G>C 491072752 112087431 20110521_exome_580550_chr14_75475894 1.83e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 CLINSEQ_SNP 8892 NC_000014.8:g.75475894G>C;NG_013333.1:g.11283G>C;NM_014239.3:c.*3G>C 491690632 112087431 SNV-chr14-74545647 1.83e-02 2012.03.06 2012.03.12 2010.07.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475939A>C;NG_013333.1:g.11328A>C;NM_014239.3:c.*48A>C 489035817 199523469 20110521_exome_191657_chr14_75475939 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475947C>T;NG_013333.1:g.11336C>T;NM_014239.3:c.*56C>T 211539658 116393177 YRI.trio.3.2010_1230382_chr14_74545700 1.14e-02 2010.03.30 2010.03.30 2010.07.14 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75475947C>T;NG_013333.1:g.11336C>T;NM_014239.3:c.*56C>T 226652737 116393177 pilot_1_YRI_8462420_chr14_74545700 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475947C>T;NG_013333.1:g.11336C>T;NM_014239.3:c.*56C>T 481938413 116393177 HumanOmni2.5-4v1_D_kgp19581890-0_B_F_1832807747 1.14e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75475947C>T;NG_013333.1:g.11336C>T;NM_014239.3:c.*56C>T 483332094 116393177 HumanOmni2.5-4v1_B_SNP14-74545700-0_B_F_1639047387 1.14e-02 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 LEE 8892 NC_000014.8:g.75476001A>C;NG_013333.1:g.11390A>C;NM_014239.3:c.*110A>C 4439111 3208685 e1657478 2002.04.26 2004.05.16 2002.05.29 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476050G>A;NG_013333.1:g.11439G>A;NM_014239.3:c.*159G>A 463901967 187228528 20101123_snps_10069197_chr14_75476050 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 UWGC 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 7439 4556 2140 4.56e-01 1999.07.15 2003.12.23 2000.09.19 2012.11.28 137 CGAP-GAI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 8343 4556 47927 4.56e-01 1999.08.23 2004.04.07 2000.09.19 2012.11.28 137 LEE 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 1539776 4556 764632 4.56e-01 2000.09.13 2003.10.10 2000.09.19 2012.11.28 137 LEE 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 4398668 4556 ge764632 4.56e-01 2002.04.25 2003.10.10 2000.09.19 2012.11.28 137 LEE 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 4427129 4556 e764632 4.56e-01 2002.04.26 2003.10.10 2000.09.19 2012.11.28 137 CGAP-GAI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 16231059 4556 1470250 4.56e-01 2003.11.18 2003.11.22 2000.09.19 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 24606773 4556 afd0204062 4.56e-01 2004.08.21 2004.09.13 2000.09.19 2012.11.28 137 ABI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 43598156 4556 hCV7587078 4.56e-01 2005.07.18 2006.11.03 2000.09.19 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 65739115 4556 Human1-rs4556 4.56e-01 2006.10.10 2006.10.10 2000.09.19 2012.11.28 137 SI_EXO 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 71643425 4556 NT_026437.11_56475824 4.56e-01 2007.05.07 2008.03.31 2000.09.19 2012.11.28 137 HGSV 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 81726909 4556 Cor18956_SNV_20070510.chr14_74545824 4.56e-01 2007.12.01 2007.12.01 2000.09.19 2012.11.28 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 96869014 4556 1103649100152 4.56e-01 2008.03.27 2008.03.27 2000.09.19 2012.11.28 137 BGI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 103198837 4556 BGI_rs4556 4.56e-01 2008.06.05 2009.06.18 2000.09.19 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 108460400 4556 CEU.trio.12.15.2008_3076991_chr14_74545824 4.56e-01 2008.12.15 2008.12.15 2000.09.19 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 113537037 4556 NA19240_2008_12_16_2758956_chr14_74545824 4.56e-01 2008.12.18 2008.12.18 2000.09.19 2012.11.28 137 ILLUMINA-UK 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 118584590 4556 NA18507_000069286_NCBI36.1_chr14_74545824 4.56e-01 2009.01.21 2009.01.21 2000.09.19 2012.11.28 137 ENSEMBL 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 137000184 4556 ENSSNP1029784 4.56e-01 2009.05.16 2009.10.15 2000.09.19 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 160687355 4556 HumanOmni1-Quad_v1-0_B_rs4556-128_T_R_1562624579 4.56e-01 2009.08.06 2009.10.04 2000.09.19 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 168313750 4556 NA07022_36_chr14_74545824 4.56e-01 2009.10.01 2009.10.01 2000.09.19 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 169085216 4556 Human1M-Duov3_B_GA029890-0_T_R_1533466963 4.56e-01 2009.10.01 2009.10.01 2000.09.19 2012.11.28 137 COMPLETE_GENOMICS 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 169947351 4556 NA19240_36_chr14_74545824 4.56e-01 2009.10.01 2009.10.01 2000.09.19 2012.11.28 137 BUSHMAN 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 200268712 4556 BUSHMAN-chr14-74545823 4.56e-01 2010.03.07 2010.03.07 2000.09.19 2012.11.28 137 BCM-HGSC-SUB 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 206867033 4556 BCM_CMT_1011-2588994 4.56e-01 2010.03.18 2010.03.18 2000.09.19 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 226652738 4556 pilot_1_YRI_8462421_chr14_74545824 4.56e-01 2010.04.22 2010.04.22 2000.09.19 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 236604364 4556 pilot_1_CEU_6208993_chr14_74545824 4.56e-01 2010.05.01 2010.05.01 2000.09.19 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 243025692 4556 pilot_1_CHB+JPT_4910769_chr14_74545824 4.56e-01 2010.05.01 2010.05.01 2000.09.19 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 244300134 4556 CVDSNP55v1_A_rs4556 4.56e-01 2010.06.10 2010.06.10 2000.09.19 2012.11.28 137 GMI 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 282065095 4556 GMI_AK_SNP_6385484 4.56e-01 2010.12.16 2010.12.16 2000.09.19 2012.11.28 137 PJP 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 291630038 4556 SNP_1136396_chr14_74545824 4.56e-01 2011.01.21 2011.01.21 2000.09.19 2012.11.28 137 ILLUMINA 8892 NC_000014.8:g.75476071G>C;NG_013333.1:g.11460G>C;NM_014239.3:c.*180G>C 481963510 4556 HumanOmni1-Quad_v1-0_C_rs4556-131_T_R_1863333012 4.56e-01 2012.02.01 2012.02.01 2000.09.19 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75476178delG;NG_013333.1:g.11567delG;NM_014239.3:c.*287delG 99788412 71791801 INDEL_GP36_2007a_124833_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 LEE 8892 NC_000014.8:g.75476259C>T;NG_013333.1:g.11648C>T;NM_014239.3:c.*368C>T 1539831 1058367 766301 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 8892 NC_000014.8:g.75476259C>T;NG_013333.1:g.11648C>T;NM_014239.3:c.*368C>T 4398685 1058367 ge766301 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 8892 NC_000014.8:g.75476259C>T;NG_013333.1:g.11648C>T;NM_014239.3:c.*368C>T 4427159 1058367 e766301 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476264_75476265delCT;NG_013333.1:g.11653_11654delCT;NM_014239.3:c.*373_*374delCT 99674335 71744279 INDEL_GP36_2007a_178217_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75476279C>T;NG_013333.1:g.11668C>T;NM_014239.3:c.*388C>T 338453141 141381011 20100804_snps_10096682_chr14_75476279 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LEE 8892 NC_000014.8:g.75476292C>A;NG_013333.1:g.11681C>A;NM_014239.3:c.*401C>A 4401798 3180290 ge1658504 2002.04.25 2003.10.10 2002.05.29 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75476355delT;NG_013333.1:g.11744delT;NM_014239.3:c.*464delT 328141305 139949391 YRI_chr14_74546107_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75476418C>T;NG_013333.1:g.11807C>T;NM_014239.3:c.*527C>T 243025693 117738433 pilot_1_CHB+JPT_4910770_chr14_74546171 7.80e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 GMI 8892 NC_000014.8:g.75476453_75476465delTGGGAGGCTGAGG;NG_013333.1:g.11842_11854delTGGGAGGCTGAGG;NM_014239.3:c.*562_*574delTGGGAGGCTGAGG 289230608 141905238 GMI_AK_INDEL_904064 2010.12.28 2011.12.29 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476453_75476465delTGGGAGGCTGAGG;NG_013333.1:g.11842_11854delTGGGAGGCTGAGG;NM_014239.3:c.*562_*574delTGGGAGGCTGAGG 327734494 141905238 CEU_chr14_74546205_indel 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75476462_75476463delGA;NG_013333.1:g.11851_11852delGA;NM_014239.3:c.*571_*572delGA 101079098 72121477 INDEL_GP36_2008a_2550216_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 BL 8892 NC_000014.8:g.75476462_75476463delGA;NG_013333.1:g.11851_11852delGA;NM_014239.3:c.*571_*572delGA 256173714 72121477 SNP3797_14_74546214 2010.08.20 2010.08.20 2009.02.13 2012.11.28 137 GMI 8892 NC_000014.8:g.75476462_75476463delGA;NG_013333.1:g.11851_11852delGA;NM_014239.3:c.*571_*572delGA 289230609 72121477 GMI_AK_INDEL_904065 2010.12.28 2011.12.29 2009.02.13 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75476463delA;NC_000014.8:g.75476463delAinsAG;NG_013333.1:g.11852delA;NG_013333.1:g.11852delAinsAG;NM_014239.3:c.*572delA;NM_014239.3:c.*572delAinsAG 100577782 66516707 INDEL_GP36_2008a_1094659_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476463delA;NC_000014.8:g.75476463delAinsAG;NG_013333.1:g.11852delA;NG_013333.1:g.11852delAinsAG;NM_014239.3:c.*572delA;NM_014239.3:c.*572delAinsAG 100577785 66516707 INDEL_GP36_2008a_1094659_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476463delA;NC_000014.8:g.75476463delAinsAG;NG_013333.1:g.11852delA;NG_013333.1:g.11852delAinsAG;NM_014239.3:c.*572delA;NM_014239.3:c.*572delAinsAG 100577789 66516707 INDEL_GP36_2008a_1094659_2 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476463delA;NC_000014.8:g.75476463delAinsAG;NG_013333.1:g.11852delA;NG_013333.1:g.11852delAinsAG;NM_014239.3:c.*572delA;NM_014239.3:c.*572delAinsAG 100577792 66516707 INDEL_GP36_2008a_1094659_3 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 BL 8892 NC_000014.8:g.75476464G>T;NG_013333.1:g.11853G>T;NM_014239.3:c.*573G>T 255105152 117592087 SNP60311_14_74546217 2010.08.20 2010.08.20 2010.07.15 2012.11.28 137 GMI 8892 NC_000014.8:g.75476464G>T;NG_013333.1:g.11853G>T;NM_014239.3:c.*573G>T 282065096 117592087 GMI_AK_SNP_6385485 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 HUMANGENOME_JCVI 8892 NC_000014.8:g.75476467delGinsGG;NC_000014.8:g.75476467delGinsTT;NG_013333.1:g.11856delGinsGG;NG_013333.1:g.11856delGinsTT;NM_014239.3:c.*576delGinsGG;NM_014239.3:c.*576delGinsTT 96887598 71415786 1103649100154 2008.03.27 2008.03.27 2009.02.13 2011.07.08 137 BL 8892 NC_000014.8:g.75476467G>T;NG_013333.1:g.11856G>T;NM_014239.3:c.*576G>T 255105157 116955879 SNP60312_14_74546220 2010.08.20 2010.08.20 2010.07.15 2012.11.28 137 GMI 8892 NC_000014.8:g.75476467G>T;NG_013333.1:g.11856G>T;NM_014239.3:c.*576G>T 282065097 116955879 GMI_AK_SNP_6385486 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 BL 8892 NC_000014.8:g.75476468G>T;NG_013333.1:g.11857G>T;NM_014239.3:c.*577G>T 255105161 76434335 SNP60313_14_74546221 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 8892 NC_000014.8:g.75476468G>T;NG_013333.1:g.11857G>T;NM_014239.3:c.*577G>T 282065098 76434335 GMI_AK_SNP_6385487 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476468_75476469insGAGGCTTGTTT;NG_013333.1:g.11857_11858insGAGGCTTGTTT;NM_014239.3:c.*577_*578insGAGGCTTGTTT 328141306 143391390 YRI_chr14_74546221_indel 4.44e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 8892 NC_000014.8:g.75476468_75476469insGAGGCTTGTTT;NG_013333.1:g.11857_11858insGAGGCTTGTTT;NM_014239.3:c.*577_*578insGAGGCTTGTTT 498788728 143391390 20110316_indels_chr14_75476468_75476469 4.44e-01 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 50365104 33990289 INDEL_GP35_WGS_658497 2006.01.24 2006.01.24 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 50365885 33990289 INDEL_GP35_WGS_659279 2006.01.24 2006.01.24 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 50368584 33990289 INDEL_GP35_WGS_661981 2006.01.24 2006.01.24 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 99824434 33990289 INDEL_GP36_2007a_674512_0 2008.05.06 2008.05.06 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 100341712 33990289 INDEL_GP36_2008a_674512_1 2008.05.16 2008.05.16 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 100341715 33990289 INDEL_GP36_2008a_674512_2 2008.05.16 2008.05.16 2006.03.13 2011.07.08 137 DEVINE_LAB 8892 NC_000014.8:g.75476469_75476470insGAGGCTTGTTT;NG_013333.1:g.11858_11859insGAGGCTTGTTT;NM_014239.3:c.*578_*579insGAGGCTTGTTT 100341717 33990289 INDEL_GP36_2008a_674512_3 2008.05.16 2008.05.16 2006.03.13 2011.07.08 137 PJP 8892 NC_000014.8:g.75476474_75476475insTTGTTTGAGGC;NG_013333.1:g.11863_11864insTTGTTTGAGGC;NM_014239.3:c.*583_*584insTTGTTTGAGGC 294839100 139657443 DIP_276804_chr14_74546238 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 HGSV 8892 NC_000014.8:g.75476495_75476496insTTGTTTGAGGC;NG_013333.1:g.11884_11885insTTGTTTGAGGC;NM_014239.3:c.*604_*605insTTGTTTGAGGC 81606757 57238980 Cor18956_DIV_20070510.chr14_74546248-74546249_1 2007.11.30 2007.11.30 2007.12.14 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75476498_75476500delGGA;NG_013333.1:g.11887_11889delGGA;NM_014239.3:c.*607_*609delGGA 327621003 141279494 JPTCHB_chr14_74546250_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75476574G>A;NG_013333.1:g.11963G>A;NM_014239.3:c.*683G>A 463901968 190049648 20101123_snps_10069198_chr14_75476574 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 8892 NC_000014.8:g.75476596G>A;NG_013333.1:g.11985G>A;NM_014239.3:c.*705G>A 463901969 181892985 20101123_snps_10069199_chr14_75476596 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 8892 NC_000014.8:g.75476602C>A;NG_013333.1:g.11991C>A;NM_014239.3:c.*711C>A 16635345 11621533 CSHL-HuAA-200402.chr14.NT_026437.10_55396643 2004.02.17 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 8892 NC_000014.8:g.75476691T>C;NG_013333.1:g.12080T>C;NM_014239.3:c.*800T>C 338453142 150350101 20100804_snps_10096683_chr14_75476691 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75476720A>G;NG_013333.1:g.12109A>G;NM_014239.3:c.*829A>G 226652739 114491634 pilot_1_YRI_8462422_chr14_74546473 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 PERLEGEN 8892 NC_000014.8:g.75476753A>G;NG_013333.1:g.12142A>G;NM_014239.3:c.*862A>G 24606774 17183320 afd0204063 1.33e-02 2004.08.21 2004.09.13 2004.09.20 2011.09.09 137 BCMHGSC_JDW 8892 NC_000014.8:g.75476753A>G;NG_013333.1:g.12142A>G;NM_014239.3:c.*862A>G 89996300 17183320 JWB-0793637 1.33e-02 2008.02.29 2008.02.29 2004.09.20 2011.09.09 137 ENSEMBL 8892 NC_000014.8:g.75476753A>G;NG_013333.1:g.12142A>G;NM_014239.3:c.*862A>G 134052312 17183320 ENSSNP10912420 1.33e-02 2009.05.13 2009.05.15 2004.09.20 2011.09.09 137 1000GENOMES 8892 NC_000014.8:g.75476753A>G;NG_013333.1:g.12142A>G;NM_014239.3:c.*862A>G 236604369 17183320 pilot_1_CEU_6208998_chr14_74546506 1.33e-02 2010.05.01 2010.05.01 2004.09.20 2011.09.09 137 # Report date: 2013.2.9, Gene: EIF2B2 (8892), ss count: 613, rs count: 179.