# 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 ABI 2517 NC_000001.10:g.24171073_24171074insC;NG_013346.1:g.28786_28787insG;NM_000147.4:c.*1131_*1132insG 41191373 35416130 hCV33744000 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24171075C>T;NG_013346.1:g.28785G>A;NM_000147.4:c.*1130G>A 328478132 145410841 20100804_snps_121668_chr1_24171075 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24171123C>A;NG_013346.1:g.28737G>T;NM_000147.4:c.*1082G>T 137846064 74472356 ENSSNP11504794 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ABI 2517 NC_000001.10:g.24171124delA;NC_000001.10:g.24171124delAinsAAAAAAAA;NG_013346.1:g.28736delT;NG_013346.1:g.28736delTinsTTTTTTTT;NM_000147.4:c.*1081delT;NM_000147.4:c.*1081delTinsTTTTTTTT 41261569 34778255 hCV26762645 2005.07.17 2005.07.17 2006.03.14 2012.05.16 137 HGSV 2517 NC_000001.10:g.24171124delA;NC_000001.10:g.24171124delAinsAAAAAAAA;NG_013346.1:g.28736delT;NG_013346.1:g.28736delTinsTTTTTTTT;NM_000147.4:c.*1081delT;NM_000147.4:c.*1081delTinsTTTTTTTT 81131775 34778255 Cor18956_DIV_20070510.chr1_23916443-23916452_1 2007.11.28 2007.11.28 2006.03.14 2012.05.16 137 DEVINE_LAB 2517 NC_000001.10:g.24171124delA;NC_000001.10:g.24171124delAinsAAAAAAAA;NG_013346.1:g.28736delT;NG_013346.1:g.28736delTinsTTTTTTTT;NM_000147.4:c.*1081delT;NM_000147.4:c.*1081delTinsTTTTTTTT 99742717 34778255 INDEL_GP36_2007a_912742_0 2008.05.06 2008.05.06 2006.03.14 2012.05.16 137 PJP 2517 NC_000001.10:g.24171124delA;NC_000001.10:g.24171124delAinsAAAAAAAA;NG_013346.1:g.28736delT;NG_013346.1:g.28736delTinsTTTTTTTT;NM_000147.4:c.*1081delT;NM_000147.4:c.*1081delTinsTTTTTTTT 294570188 34778255 DIP_7892_chr1_24043711 2011.01.21 2011.01.21 2006.03.14 2012.05.16 137 ENSEMBL 2517 NC_000001.10:g.24171126A>C;NG_013346.1:g.28734T>G;NM_000147.4:c.*1079T>G 137846067 74371713 ENSSNP11504795 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24171232G>T;NG_013346.1:g.28628C>A;NM_000147.4:c.*973C>A 453933112 192208772 20101123_snps_100342_chr1_24171232 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24171250A>G;NG_013346.1:g.28610T>C;NM_000147.4:c.*955T>C 453933113 183568395 20101123_snps_100343_chr1_24171250 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2517 NC_000001.10:g.24171490_24171491insC;NG_013346.1:g.28369_28370insG;NM_000147.4:c.*714_*715insG 41273962 34413067 hCV33744001 2.38e-02 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171490_24171491insC;NG_013346.1:g.28369_28370insG;NM_000147.4:c.*714_*715insG 498807711 34413067 20110316_indels_chr1_24171490_24171491 2.38e-02 2012.03.19 2012.03.19 2006.03.14 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 6397550 4649119 NT_004391.13_632736 3.61e-01 2003.02.12 2006.10.25 2003.02.20 2012.11.28 137 CSHL-HAPMAP 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 19125098 4649119 CSHL-HuDD-200402.chr1.NT_004610.16_4974793 3.61e-01 2004.02.20 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 20431610 4649119 WGSA-200403-chr1.chr1.NT_004610.16_4974793 3.61e-01 2004.03.18 2004.03.18 2003.02.20 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 24141444 4649119 afd0998485 3.61e-01 2004.08.21 2004.09.13 2003.02.20 2012.11.28 137 ABI 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 44114281 4649119 hCV79667 3.61e-01 2005.07.18 2006.11.03 2003.02.20 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 68761484 4649119 PGP00998485 3.61e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 SI_EXO 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 71648320 4649119 NT_004610.18_6995885 3.61e-01 2007.05.07 2008.03.31 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 99194329 4649119 1103675047316 3.61e-01 2008.04.03 2008.04.03 2003.02.20 2012.11.28 137 BGI 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 102727911 4649119 BGI_rs4649119 3.61e-01 2008.06.04 2009.06.16 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 110185883 4649119 NA19240_2008_12_16_30341_chr1_24044130 3.61e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 131768708 4649119 ENSSNP188462 3.61e-01 2009.05.11 2010.03.07 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 154771384 4649119 GMI_SNP_117828142 3.61e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 160693854 4649119 HumanOmni1-Quad_v1-0_B_rs4649119-128_T_F_1578078694 3.61e-01 2009.08.06 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 163184728 4649119 NA19240_36_chr1_24044130 3.61e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 218284430 4649119 pilot_1_YRI_94113_chr1_24044130 3.61e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 230463218 4649119 pilot_1_CEU_67847_chr1_24044130 3.61e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 238170675 4649119 pilot_1_CHB+JPT_55752_chr1_24044130 3.61e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 275753917 4649119 GMI_AK_SNP_74080 3.61e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 290786576 4649119 SNP_292934_chr1_24044130 3.61e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24171543C>G;NG_013346.1:g.28317G>C;NM_000147.4:c.*662G>C 481989557 4649119 HumanOmni1-Quad_v1-0_C_rs4649119-131_T_F_1863346253 3.61e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 LEE 2517 NC_000001.10:g.24171588T>G;NG_013346.1:g.28272A>C;NM_000147.4:c.*617A>C 1510101 1126847 29275 2000.09.13 2003.10.10 2000.10.13 2011.09.09 137 LEE 2517 NC_000001.10:g.24171588T>G;NG_013346.1:g.28272A>C;NM_000147.4:c.*617A>C 4404063 1126847 e29275 2002.04.26 2003.10.10 2000.10.13 2011.09.09 137 ILLUMINA 2517 NC_000001.10:g.24171588T>G;NG_013346.1:g.28272A>C;NM_000147.4:c.*617A>C 74979589 1126847 ILMN_Human_1M_rs1126847 2007.08.29 2007.08.29 2000.10.13 2011.09.09 137 KRIBB_YJKIM 2517 NC_000001.10:g.24171588T>G;NG_013346.1:g.28272A>C;NM_000147.4:c.*617A>C 119383073 1126847 KHS1545320 2009.02.04 2009.02.04 2000.10.13 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24171589G>A;NG_013346.1:g.28271C>T;NM_000147.4:c.*616C>T 453933114 188956298 20101123_snps_100344_chr1_24171589 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24171935A>G;NG_013346.1:g.27925T>C;NM_000147.4:c.*270T>C 328478134 143441916 20100804_snps_121670_chr1_24171935 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 2517 NC_000001.10:g.24171936T>A;NG_013346.1:g.27924A>T;NM_000147.4:c.*269A>T 23668035 16828754 afd0998486 3.70e-03 2004.08.20 2004.08.20 2004.09.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24171936T>A;NG_013346.1:g.27924A>T;NM_000147.4:c.*269A>T 328478135 16828754 20100804_snps_121671_chr1_24171936 3.70e-03 2011.03.22 2011.03.22 2004.09.20 2012.11.28 137 LEE 2517 NC_000001.10:g.24171949C>G;NG_013346.1:g.27911G>C;NM_000147.4:c.*256G>C 1509577 1126689 18030 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 BUSHMAN 2517 NC_000001.10:g.24171961T>G;NG_013346.1:g.27899A>C;NM_000147.4:c.*244A>C 198170885 112674512 BUSHMAN-chr1-24044547 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24171966G>A;NG_013346.1:g.27894C>T;NM_000147.4:c.*239C>T 328478136 142042394 20100804_snps_121672_chr1_24171966 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24171970A>C;NG_013346.1:g.27890T>G;NM_000147.4:c.*235T>G 453933115 193149308 20101123_snps_100345_chr1_24171970 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 2517 NC_000001.10:g.24172247G>A;NG_013346.1:g.27613C>T;NM_000147.4:c.1359C>T;NP_000138.2:p.Pro453= 341945094 147866670 ESP2500-chr1-24172247 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 OMIM-CURATED-RECORDS 2517 NP_000138.2:p.GLN427TER NC_000001.10:g.24172327G>A;NG_013346.1:g.27533C>T;NM_000147.4:c.1279C>T;NP_000138.2:p.Gln427Ter 252841688 118204450 17247 germline pathogenic 2010.08.12 2010.08.12 2010.08.12 2012.09.29 137 NHLBI-ESP 2517 NC_000001.10:g.24172332C>T;NG_013346.1:g.27528G>A;NM_000147.4:c.1274G>A;NP_000138.2:p.Gly425Glu 341945096 150422575 ESP2500-chr1-24172332 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24172332C>T;NG_013346.1:g.27528G>A;NM_000147.4:c.1274G>A;NP_000138.2:p.Gly425Glu 491289176 150422575 nonsyn_5403_chr_1_24172332 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24172375C>T;NG_013346.1:g.27485G>A;NM_000147.4:c.1261-30G>A 488657419 200812700 20110521_exome_5525_chr1_24172375 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24172509A>G;NG_013346.1:g.27351T>C;NM_000147.4:c.1260+55T>C 453933116 184431781 20101123_snps_100346_chr1_24172509 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 OMICIA 2517 NC_000001.9:g.24045182A>C NC_000001.10:g.24172595A>C;NG_013346.1:g.27265T>G;NM_000147.4:c.1229T>G;NP_000138.2:p.Leu410Arg 187504698 80358199 2009_August_001_082_FUCA1_230000_0012 germline pathogenic 2010.02.04 2013.02.08 2010.02.04 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NP_000138.2:p.LEU410ARG NC_000001.10:g.24172595A>C;NG_013346.1:g.27265T>G;NM_000147.4:c.1229T>G;NP_000138.2:p.Leu410Arg 252841694 80358199 17258 germline pathogenic 2010.08.12 2010.08.12 2010.02.04 2013.02.08 137 ILLUMINA 2517 NC_000001.10:g.24172640A>C;NG_013346.1:g.27220T>G;NM_000147.4:c.1184T>G;NP_000138.2:p.Val395Gly 161046580 76826739 HumanOmni1-Quad_v1-0_B_SNP1-24045227-128_B_R_1587975167 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24172640A>C;NG_013346.1:g.27220T>G;NM_000147.4:c.1184T>G;NP_000138.2:p.Val395Gly 479215769 76826739 HumanOmni1-Quad_v1-0_C_kgp15625484-0_B_R_1837216007 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24172646G>A;NG_013346.1:g.27214C>T;NM_000147.4:c.1178C>T;NP_000138.2:p.Ser393Leu 341945098 149168482 ESP2500-chr1-24172646 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24172700A>G;NG_013346.1:g.27160T>C;NM_000147.4:c.1161-37T>C 453933117 188188637 20101123_snps_100347_chr1_24172700 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 2517 NC_000001.10:g.24172705T>G;NG_013346.1:g.27155A>C;NM_000147.4:c.1161-42A>C 6397551 4649120 NT_004391.13_633898 2003.02.12 2003.10.10 2003.02.20 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24172766_24172767insT;NG_013346.1:g.27093_27094insA;NM_000147.4:c.1161-104_1161-103insA 15345235 11456086 INDEL_GP34_WGS_495832 2003.11.14 2003.11.22 2004.02.28 2012.05.11 137 PJP 2517 NC_000001.10:g.24172766_24172767insT;NG_013346.1:g.27093_27094insA;NM_000147.4:c.1161-104_1161-103insA 294570189 11456086 DIP_7893_chr1_24045359 2011.01.21 2011.01.21 2004.02.28 2012.05.11 137 ENSEMBL 2517 NC_000001.10:g.24172779T>G;NG_013346.1:g.27081A>C;NM_000147.4:c.1161-116A>C 137846070 77786887 ENSSNP11504796 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 GMI 2517 NC_000001.10:g.24172779_24172780insT;NG_013346.1:g.27080_27081insA;NM_000147.4:c.1161-117_1161-116insA 287959239 200057688 GMI_AK_INDEL_10036 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 ENSEMBL 2517 NC_000001.10:g.24172780G>T;NG_013346.1:g.27080C>A;NM_000147.4:c.1161-117C>A 137846073 77832681 ENSSNP11504797 2009.05.16 2009.05.16 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24172780G>T;NG_013346.1:g.27080C>A;NM_000147.4:c.1161-117C>A 275753918 77832681 GMI_AK_SNP_74081 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24172882C>T;NG_013346.1:g.26978G>A;NM_000147.4:c.1161-219G>A 328478137 145900261 20100804_snps_121673_chr1_24172882 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24172959C>T;NG_013346.1:g.26901G>A;NM_000147.4:c.1161-296G>A 328478138 138792057 20100804_snps_121674_chr1_24172959 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 101087395 72102772 INDEL_GP36_2008a_1563422_0 3.50e-01 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 287669755 72102772 GMI_NA10851_INDEL_2327 3.50e-01 2010.12.18 2010.12.20 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 287959241 72102772 GMI_AK_INDEL_10037 3.50e-01 2010.12.20 2011.12.22 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 326015298 72102772 JPTCHB_chr1_24045676_indel 3.50e-01 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 326015325 72102772 CEU_chr1_24045676_indel 3.50e-01 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 326019620 72102772 YRI_chr1_24045676_indel 3.50e-01 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173090_24173104delCTTGTTGTCCAGGCT;NG_013346.1:g.26756_26770delAGCCTGGACAACAAG;NM_000147.4:c.1161-441_1161-427delAGCCTGGACAACAAG 498807715 72102772 20110316_indels_chr1_24173089_24173103 3.50e-01 2012.03.19 2012.03.19 2009.02.13 2012.11.28 137 BL 2517 NC_000001.10:g.24173103C>A;NG_013346.1:g.26757G>T;NM_000147.4:c.1161-440G>T 252985477 115322170 SNP30643_1_24045690 2010.08.18 2010.08.18 2010.07.14 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24173117delG;NC_000001.10:g.24173117delGinsCTCTTGTTGTCCAGG;NG_013346.1:g.26743delC;NG_013346.1:g.26743delCinsCCTGGACAACAAGAG;NM_000147.4:c.1161-454delC;NM_000147.4:c.1161-454delCinsCCTGGACAACAAGAG 14944653 11276026 INDEL_GP34_WGS_21135 2003.11.13 2003.11.22 2004.02.28 2011.09.09 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24173117delG;NC_000001.10:g.24173117delGinsCTCTTGTTGTCCAGG;NG_013346.1:g.26743delC;NG_013346.1:g.26743delCinsCCTGGACAACAAGAG;NM_000147.4:c.1161-454delC;NM_000147.4:c.1161-454delCinsCCTGGACAACAAGAG 95223991 11276026 1104685613165 2008.03.21 2008.12.02 2004.02.28 2011.09.09 137 DEVINE_LAB 2517 NC_000001.10:g.24173117delG;NC_000001.10:g.24173117delGinsCTCTTGTTGTCCAGG;NG_013346.1:g.26743delC;NG_013346.1:g.26743delCinsCCTGGACAACAAGAG;NM_000147.4:c.1161-454delC;NM_000147.4:c.1161-454delCinsCCTGGACAACAAGAG 100643419 11276026 INDEL_GP36_2008a_1325114_0 2008.05.17 2008.05.17 2004.02.28 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24173260C>T;NG_013346.1:g.26600G>A;NM_000147.4:c.1161-597G>A 453933118 191484832 20101123_snps_100348_chr1_24173260 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24173498C>G;NG_013346.1:g.26362G>C;NM_000147.4:c.1161-835G>C 218284431 116134854 pilot_1_YRI_94114_chr1_24046085 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24173515T>C;NG_013346.1:g.26345A>G;NM_000147.4:c.1161-852A>G 218284432 74393870 pilot_1_YRI_94115_chr1_24046102 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 PERLEGEN 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 23668036 16828757 afd0998488 1.14e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 74967689 16828757 ILMN_Human_1M_rs16828757 1.14e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 119841535 16828757 KHS1872601 1.14e-02 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 172619544 16828757 Human1M-Duov3_B_rs16828757-128_T_F_1513928309 1.14e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 218284433 16828757 pilot_1_YRI_94116_chr1_24046192 1.14e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 480811896 16828757 HumanOmni2.5-4v1_D_kgp15287277-0_B_R_1836186498 1.14e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173605A>G;NG_013346.1:g.26255T>C;NM_000147.4:c.1161-942T>C 482285907 16828757 HumanOmni2.5-4v1_B_SNP1-24046192-0_B_R_1631109151 1.14e-02 2012.02.01 2012.02.01 2004.09.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173627_24173628delCT;NG_013346.1:g.26232_26233delAG;NM_000147.4:c.1161-965_1161-964delAG 326019621 139410285 YRI_chr1_24046213_indel 3.21e-02 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173627_24173628delCT;NG_013346.1:g.26232_26233delAG;NM_000147.4:c.1161-965_1161-964delAG 498807719 139410285 20110316_indels_chr1_24173626_24173627 3.21e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24173829_24173830insT;NG_013346.1:g.26030_26031insA;NM_000147.4:c.1161-1167_1161-1166insA 98568202 71575778 1103675047317 2008.04.01 2008.04.01 2009.02.13 2011.09.09 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24173833_24173834insT;NG_013346.1:g.26026_26027insA;NM_000147.4:c.1161-1171_1161-1170insA 95223992 71026630 1104685613166 2008.03.21 2008.12.02 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24173833_24173834insT;NG_013346.1:g.26026_26027insA;NM_000147.4:c.1161-1171_1161-1170insA 287669756 71026630 GMI_NA10851_INDEL_2328 2010.12.18 2010.12.20 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24173833_24173834insT;NG_013346.1:g.26026_26027insA;NM_000147.4:c.1161-1171_1161-1170insA 287959243 71026630 GMI_AK_INDEL_10038 2010.12.20 2011.12.22 2009.02.13 2012.11.28 137 PJP 2517 NC_000001.10:g.24173833_24173834insT;NG_013346.1:g.26026_26027insA;NM_000147.4:c.1161-1171_1161-1170insA 294570190 71026630 DIP_7894_chr1_24046426 2011.01.21 2011.01.21 2009.02.13 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173846C>T;NG_013346.1:g.26014G>A;NM_000147.4:c.1161-1183G>A 479850921 200384215 HumanOmni2.5-4v1_D_kgp11883489-0_T_R_1821101238 2012.01.31 2012.01.31 2012.05.04 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24173846C>T;NG_013346.1:g.26014G>A;NM_000147.4:c.1161-1183G>A 482285910 200384215 HumanOmni2.5-4v1_B_SNP1-24046433-0_T_R_1635430986 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173950T>C;NG_013346.1:g.25910A>G;NM_000147.4:c.1160+1189A>G 218284435 115304733 pilot_1_YRI_94118_chr1_24046537 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24173955C>G;NG_013346.1:g.25905G>C;NM_000147.4:c.1160+1184G>C 328478139 141269852 20100804_snps_121675_chr1_24173955 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24173965A>G;NG_013346.1:g.25895T>C;NM_000147.4:c.1160+1174T>C 328478140 150785582 20100804_snps_121676_chr1_24173965 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24173975G>A;NG_013346.1:g.25885C>T;NM_000147.4:c.1160+1164C>T 328478141 138091969 20100804_snps_121677_chr1_24173975 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 16404545 10917431 CSHL-HuAA-200402.chr1.NT_004610.16_4977343 3.63e-01 2004.02.17 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 18257384 10917431 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4977343 3.63e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 20436866 10917431 WGSA-200403-chr1.chr1.NT_004610.16_4977343 3.63e-01 2004.03.18 2004.03.18 2004.02.27 2012.11.28 137 ABI 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 41115062 10917431 hCV458155 3.63e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 65804592 10917431 Human1-rs10917431 3.63e-01 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 74885121 10917431 ILMN_Human_1M_rs10917431 3.63e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 82410377 10917431 Cor18555_SNV_20070510.chr1_23919399 3.63e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 99194330 10917431 1103675047318 3.63e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 BGI 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 102727912 10917431 BGI_rs10917431 3.63e-01 2008.06.04 2009.06.16 2004.02.27 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 119650776 10917431 KHS1794923 3.63e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 131768738 10917431 ENSSNP188514 3.63e-01 2009.05.11 2010.03.07 2004.02.27 2012.11.28 137 GMI 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 154771395 10917431 GMI_SNP_36791778 3.63e-01 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 159938250 10917431 HumanOmni1-Quad_v1-0_B_rs10917431-128_B_F_1513884426 3.63e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 163184732 10917431 NA19240_36_chr1_24046680 3.63e-01 2009.09.29 2009.09.29 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 170749645 10917431 Human1M-Duov3_B_rs10917431-128_B_F_1513884426 3.63e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 210487746 10917431 YRI.trio.3.2010_13314_chr1_24046680 3.63e-01 2010.03.29 2010.03.29 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 218284436 10917431 pilot_1_YRI_94119_chr1_24046680 3.63e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 230463223 10917431 pilot_1_CEU_67852_chr1_24046680 3.63e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 238170678 10917431 pilot_1_CHB+JPT_55755_chr1_24046680 3.63e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 252985481 10917431 SNP30644_1_24046680 3.63e-01 2010.08.18 2010.08.18 2004.02.27 2012.11.28 137 GMI 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 275753919 10917431 GMI_AK_SNP_74082 3.63e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 290786577 10917431 SNP_292935_chr1_24046680 3.63e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 479403221 10917431 HumanOmni2.5-4v1_B_rs10917431-128_B_F_1731922125 3.63e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 479406520 10917431 HumanOmniExpress-12v1_C_rs10917431-131_B_F_1857180008 3.63e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 479819077 10917431 HumanOmni1-Quad_v1-0_C_rs10917431-131_B_F_1865535221 3.63e-01 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24174093T>G;NG_013346.1:g.25767A>C;NM_000147.4:c.1160+1046A>C 484501567 10917431 HumanOmni2.5-4v1_D_rs10917431-131_B_F_1857180008 3.63e-01 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174187G>C;NG_013346.1:g.25673C>G;NM_000147.4:c.1160+952C>G 328478143 146058656 20100804_snps_121679_chr1_24174187 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24174229A>G;NG_013346.1:g.25631T>C;NM_000147.4:c.1160+910T>C 163981152 111281095 NA07022_36_chr1_24046816 2.61e-02 2009.09.29 2009.09.29 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24174229A>G;NG_013346.1:g.25631T>C;NM_000147.4:c.1160+910T>C 205408118 111281095 BCM_CMT_1011-183028 2.61e-02 2010.03.15 2010.03.15 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174229A>G;NG_013346.1:g.25631T>C;NM_000147.4:c.1160+910T>C 230463224 111281095 pilot_1_CEU_67853_chr1_24046816 2.61e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24174369G>T;NG_013346.1:g.25491C>A;NM_000147.4:c.1160+770C>A 328478144 140037396 20100804_snps_121680_chr1_24174369 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24174373G>A;NG_013346.1:g.25487C>T;NM_000147.4:c.1160+766C>T 328478145 143676798 20100804_snps_121681_chr1_24174373 1.69e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24174387C>G;NG_013346.1:g.25473G>C;NM_000147.4:c.1160+752G>C 328478146 146340024 20100804_snps_121682_chr1_24174387 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24174443C>A;NG_013346.1:g.25417G>T;NM_000147.4:c.1160+696G>T 328478147 139654973 20100804_snps_121683_chr1_24174443 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24174653C>G;NG_013346.1:g.25207G>C;NM_000147.4:c.1160+486G>C 453933119 184053963 20101123_snps_100349_chr1_24174653 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24174851C>T;NG_013346.1:g.25009G>A;NM_000147.4:c.1160+288G>A 453933120 188685647 20101123_snps_100350_chr1_24174851 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24175064T>C;NG_013346.1:g.24796A>G;NM_000147.4:c.1160+75A>G 328478148 142928994 20100804_snps_121684_chr1_24175064 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 OMICIA 2517 NC_000001.9:g.24047726C>T NC_000001.10:g.24175139C>T;NG_013346.1:g.24721G>A;NM_000147.4:c.1160G>A;NP_000138.2:p.Trp387Ter 187504679 80358197 2009_August_001_079_FUCA1_230000_0006 germline pathogenic 2010.02.04 2013.02.08 2010.02.04 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NM_000147.4:c.1160G>A NC_000001.10:g.24175139C>T;NG_013346.1:g.24721G>A;NM_000147.4:c.1160G>A;NP_000138.2:p.Trp387Ter 252841691 80358197 17252 germline pathogenic 2010.08.12 2010.08.12 2010.02.04 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24175151G>A;NG_013346.1:g.24709C>T;NM_000147.4:c.1148C>T;NP_000138.2:p.Thr383Ile 218284437 114490852 pilot_1_YRI_94120_chr1_24047738 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24175151G>A;NG_013346.1:g.24709C>T;NM_000147.4:c.1148C>T;NP_000138.2:p.Thr383Ile 341945101 114490852 ESP2500-chr1-24175151 1.14e-02 2011.03.25 2011.03.25 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175151G>A;NG_013346.1:g.24709C>T;NM_000147.4:c.1148C>T;NP_000138.2:p.Thr383Ile 489728339 114490852 20110521_exome_298204_chr1_24175151 1.14e-02 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24175151G>A;NG_013346.1:g.24709C>T;NM_000147.4:c.1148C>T;NP_000138.2:p.Thr383Ile 491289177 114490852 nonsyn_5404_chr_1_24175151 1.14e-02 2012.03.05 2012.03.05 2010.07.14 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24175151G>A;NG_013346.1:g.24709C>T;NM_000147.4:c.1148C>T;NP_000138.2:p.Thr383Ile 491588987 114490852 SNV-chr1-24047738 1.14e-02 2012.03.06 2012.03.12 2010.07.14 2012.11.28 137 OMICIA 2517 NC_000001.9:g.24047748C>A NC_000001.10:g.24175161C>A;NG_013346.1:g.24699G>T;NM_000147.4:c.1138G>T;NP_000138.2:p.Glu380Ter 187504669 80358195 2009_August_001_077_FUCA1_230000_0003 germline pathogenic 2010.02.04 2013.02.08 2010.02.04 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NP_000138.2:p.GLU380TER NC_000001.10:g.24175161C>A;NG_013346.1:g.24699G>T;NM_000147.4:c.1138G>T;NP_000138.2:p.Glu380Ter 252841689 80358195 17249 germline pathogenic 2010.08.12 2010.08.12 2010.02.04 2013.02.08 137 NHLBI-ESP 2517 NC_000001.10:g.24175172C>T;NG_013346.1:g.24688G>A;NM_000147.4:c.1127G>A;NP_000138.2:p.Arg376Gln 341945102 145603001 ESP2500-chr1-24175172 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175172C>T;NG_013346.1:g.24688G>A;NM_000147.4:c.1127G>A;NP_000138.2:p.Arg376Gln 488657421 145603001 20110521_exome_5526_chr1_24175172 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24175172C>T;NG_013346.1:g.24688G>A;NM_000147.4:c.1127G>A;NP_000138.2:p.Arg376Gln 491289178 145603001 nonsyn_5405_chr_1_24175172 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24175264T>A;NG_013346.1:g.24596A>T;NM_000147.4:c.1035A>T;NP_000138.2:p.Gly345= 341945105 150532144 ESP2500-chr1-24175264 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24175369C>T;NG_013346.1:g.24491G>A;NM_000147.4:c.970-40G>A 218284438 75337407 pilot_1_YRI_94121_chr1_24047956 6.90e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175369C>T;NG_013346.1:g.24491G>A;NM_000147.4:c.970-40G>A 489728341 75337407 20110521_exome_298205_chr1_24175369 6.90e-03 2012.02.15 2012.02.21 2009.12.01 2012.11.28 137 CSHL-HAPMAP 2517 NC_000001.10:g.24175469C>T;NG_013346.1:g.24391G>A;NM_000147.4:c.970-140G>A 17359228 11807558 CSHL-HuCC-200402.chr1.NT_004610.16_4978719 variation has been flagged as failed by submitter 2004.02.19 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24175543G>A;NG_013346.1:g.24317C>T;NM_000147.4:c.970-214C>T 453933121 181738723 20101123_snps_100351_chr1_24175543 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24175607G>A;NG_013346.1:g.24253C>T;NM_000147.4:c.970-278C>T 453933122 186981270 20101123_snps_100352_chr1_24175607 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2517 NC_000001.10:g.24175621C>T;NG_013346.1:g.24239G>A;NM_000147.4:c.970-292G>A 198170890 112263690 BUSHMAN-chr1-24048207 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24175754G>A;NG_013346.1:g.24106C>T;NM_000147.4:c.970-425C>T 328478149 151101180 20100804_snps_121685_chr1_24175754 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 19113276 12404321 CSHL-HuDD-200402.chr1.NT_004610.16_4979013 1.04e-01 2004.02.20 2004.10.21 2004.02.28 2012.11.28 137 ABI 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 41122425 12404321 hCV149077 1.04e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 AFFY 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 76683383 12404321 AFFY_6_1M_SNP_A-8544771 1.04e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 81674088 12404321 Cor18555_SNV_20070510.chr1_23921069 1.04e-01 2007.12.01 2007.12.01 2004.02.28 2012.11.28 137 BGI 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 102727913 12404321 BGI_rs12404321 1.04e-01 2008.06.04 2009.06.16 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 105054812 12404321 KHS1447135 1.04e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 161236010 12404321 ENSSNP188569 1.04e-01 2009.09.24 2010.03.07 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 172049773 12404321 Human1M-Duov3_B_rs12404321-128_B_R_1512726389 1.04e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 230463225 12404321 pilot_1_CEU_67854_chr1_24048350 1.04e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 238170679 12404321 pilot_1_CHB+JPT_55756_chr1_24048350 1.04e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 275753920 12404321 GMI_AK_SNP_74083 1.04e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 2517 NC_000001.10:g.24175763A>G;NG_013346.1:g.24097T>C;NM_000147.4:c.970-434T>C 290786578 12404321 SNP_292936_chr1_24048350 1.04e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24175790C>A;NG_013346.1:g.24070G>T;NM_000147.4:c.970-461G>T 210487750 77561383 YRI.trio.3.2010_13315_chr1_24048377 3.07e-02 2010.03.29 2010.03.29 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24175790C>A;NG_013346.1:g.24070G>T;NM_000147.4:c.970-461G>T 218284440 77561383 pilot_1_YRI_94123_chr1_24048377 3.07e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24175790C>A;NG_013346.1:g.24070G>T;NM_000147.4:c.970-461G>T 238170680 77561383 pilot_1_CHB+JPT_55757_chr1_24048377 3.07e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24175843A>G;NG_013346.1:g.24017T>C;NM_000147.4:c.970-514T>C 453933123 190609754 20101123_snps_100353_chr1_24175843 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 2517 NC_000001.10:g.24175953G>A;NG_013346.1:g.23907C>T;NM_000147.4:c.970-624C>T 161236016 79619956 ENSSNP188579 2009.09.24 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24176003G>A;NG_013346.1:g.23857C>T;NM_000147.4:c.970-674C>T 453933124 182169126 20101123_snps_100354_chr1_24176003 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176013A>C;NG_013346.1:g.23847T>G;NM_000147.4:c.970-684T>G 328478150 141096867 20100804_snps_121686_chr1_24176013 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24176050A>G;NG_013346.1:g.23810T>C;NM_000147.4:c.970-721T>C 453933125 185905414 20101123_snps_100355_chr1_24176050 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 2517 NC_000001.10:g.24176068T>C;NG_013346.1:g.23792A>G;NM_000147.4:c.970-739A>G 137846077 79575841 ENSSNP11504798 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24176159G>A;NG_013346.1:g.23701C>T;NM_000147.4:c.970-830C>T 328478151 149859607 20100804_snps_121687_chr1_24176159 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24176230G>A;NG_013346.1:g.23630C>T;NM_000147.4:c.970-901C>T 453933126 189927309 20101123_snps_100356_chr1_24176230 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176259G>A;NG_013346.1:g.23601C>T;NM_000147.4:c.970-930C>T 453933127 182542370 20101123_snps_100357_chr1_24176259 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176287G>A;NG_013346.1:g.23573C>T;NM_000147.4:c.970-958C>T 453933128 185634029 20101123_snps_100358_chr1_24176287 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176410G>T;NG_013346.1:g.23450C>A;NM_000147.4:c.970-1081C>A 210487752 114166842 YRI.trio.3.2010_13316_chr1_24048997 3.21e-02 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176410G>T;NG_013346.1:g.23450C>A;NM_000147.4:c.970-1081C>A 218284442 114166842 pilot_1_YRI_94125_chr1_24048997 3.21e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24176410G>T;NG_013346.1:g.23450C>A;NM_000147.4:c.970-1081C>A 480777778 114166842 HumanOmni2.5-4v1_D_kgp15157151-0_T_R_1835585063 3.21e-02 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24176410G>T;NG_013346.1:g.23450C>A;NM_000147.4:c.970-1081C>A 482285981 114166842 HumanOmni2.5-4v1_B_SNP1-24048997-0_T_R_1631031109 3.21e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176416G>C;NG_013346.1:g.23444C>G;NM_000147.4:c.970-1087C>G 328478153 141976059 20100804_snps_121689_chr1_24176416 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24176571A>G;NG_013346.1:g.23289T>C;NM_000147.4:c.970-1242T>C 453933129 190346375 20101123_snps_100359_chr1_24176571 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 2517 NC_000001.10:g.24176692G>T;NG_013346.1:g.23168C>A;NM_000147.4:c.970-1363C>A 87300876 61779505 JWB-2721367 2008.02.26 2008.02.26 2008.03.23 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24176698C>T;NG_013346.1:g.23162G>A;NM_000147.4:c.970-1369G>A 328478154 145841609 20100804_snps_121690_chr1_24176698 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 2517 NC_000001.10:g.24176760C>T;NG_013346.1:g.23100G>A;NM_000147.4:c.970-1431G>A 11389126 7535480 chr1.NT_004391.15_517107 2003.07.03 2003.10.10 2003.07.11 2011.07.08 137 WI_SSAHASNP 2517 NC_000001.10:g.24176767T>C;NG_013346.1:g.23093A>G;NM_000147.4:c.970-1438A>G 11403698 7542696 chr1.NT_004391.15_517114 2003.07.03 2003.10.10 2003.07.11 2011.07.08 137 ABI 2517 NC_000001.10:g.24176806_24176807insA;NG_013346.1:g.23053_23054insT;NM_000147.4:c.970-1478_970-1477insT 41084537 36089665 hCV26762638 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 15311803 11425085 INDEL_GP34_WGS_455649 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 41298366 11425085 hCV26762639 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 2517 NC_000001.10:g.24176807delA;NG_013346.1:g.23053delT;NM_000147.4:c.970-1478delT 79932512 61665871 Cor18507_DIV_20070510.chr1_23922127-23922129_1 2007.11.24 2007.11.24 2007.12.16 2012.11.28 137 HGSV 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 81566599 11425085 Cor18555_DIV_20070510.chr1_23922128-23922129_1 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24176807delA;NG_013346.1:g.23053delT;NM_000147.4:c.970-1478delT 95223993 61665871 1104685613167 2008.03.21 2008.12.02 2007.12.16 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 101294899 11425085 INDEL_GP36_2008a_1631639_0 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 101294902 11425085 INDEL_GP36_2008a_1631639_1 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24176807delA;NG_013346.1:g.23053delT;NM_000147.4:c.970-1478delT 287669757 61665871 GMI_NA10851_INDEL_2329 2010.12.18 2010.12.20 2007.12.16 2012.11.28 137 GMI 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 287959245 11425085 GMI_AK_INDEL_10039 2010.12.20 2011.12.22 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24176807delA;NG_013346.1:g.23053delT;NM_000147.4:c.970-1478delT 287959247 61665871 GMI_AK_INDEL_10040 2010.12.20 2011.12.22 2007.12.16 2012.11.28 137 GMI 2517 NC_000001.10:g.24176807_24176808insA;NC_000001.10:g.24176807_24176808insAA;NG_013346.1:g.23052_23053insT;NG_013346.1:g.23052_23053insTT;NM_000147.4:c.970-1479_970-1478insT;NM_000147.4:c.970-1479_970-1478insTT 287959249 11425085 GMI_AK_INDEL_10041 2010.12.20 2011.12.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176836C>A;NG_013346.1:g.23024G>T;NM_000147.4:c.970-1507G>T 453933130 183661079 20101123_snps_100360_chr1_24176836 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176955T>G;NG_013346.1:g.22905A>C;NM_000147.4:c.970-1626A>C 453933131 188536112 20101123_snps_100361_chr1_24176955 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24176974_24176975insA;NG_013346.1:g.22885_22886insT;NM_000147.4:c.970-1646_970-1645insT 498807723 200219000 20110316_indels_chr1_24176974_24176975 2.20e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 BGI 2517 NC_000001.10:g.24176983T>A;NG_013346.1:g.22877A>T;NM_000147.4:c.970-1654A>T 102727914 77767474 BGI_YHSNP0131732 1.22e-01 2008.06.04 2009.06.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176983T>A;NG_013346.1:g.22877A>T;NM_000147.4:c.970-1654A>T 218284443 77767474 pilot_1_YRI_94126_chr1_24049570 1.22e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176983T>A;NG_013346.1:g.22877A>T;NM_000147.4:c.970-1654A>T 230463227 77767474 pilot_1_CEU_67856_chr1_24049570 1.22e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24176983T>A;NG_013346.1:g.22877A>T;NM_000147.4:c.970-1654A>T 238170682 77767474 pilot_1_CHB+JPT_55759_chr1_24049570 1.22e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24176983T>A;NG_013346.1:g.22877A>T;NM_000147.4:c.970-1654A>T 275753921 77767474 GMI_AK_SNP_74084 1.22e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24177030G>A;NG_013346.1:g.22830C>T;NM_000147.4:c.970-1701C>T 6397552 4649121 NT_004391.13_638223 2003.02.12 2003.10.10 2003.02.20 2011.07.08 137 HGSV 2517 NC_000001.10:g.24177034C>G;NC_000001.10:g.24177034C>T;NG_013346.1:g.22826G>A;NG_013346.1:g.22826G>C;NM_000147.4:c.970-1705G>A;NM_000147.4:c.970-1705G>C 78972892 55974551 Cor18507_SNV_20070510.chr1_23922340 9.00e-04 2007.10.21 2007.10.21 2007.12.07 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177034C>G;NC_000001.10:g.24177034C>T;NG_013346.1:g.22826G>A;NG_013346.1:g.22826G>C;NM_000147.4:c.970-1705G>A;NM_000147.4:c.970-1705G>C 453933132 55974551 20101123_snps_100362_chr1_24177034 9.00e-04 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 BL 2517 NC_000001.10:g.24177084C>G;NG_013346.1:g.22776G>C;NM_000147.4:c.970-1755G>C 252985486 150052576 SNP30645_1_24049671 2010.08.18 2010.08.18 2011.05.09 2011.07.08 137 BL 2517 NC_000001.10:g.24177120T>A;NG_013346.1:g.22740A>T;NM_000147.4:c.970-1791A>T 252985490 146706347 SNP30646_1_24049707 2010.08.18 2010.08.18 2011.05.09 2011.07.08 137 BL 2517 NC_000001.10:g.24177128C>T;NG_013346.1:g.22732G>A;NM_000147.4:c.970-1799G>A 252985493 146479049 SNP30647_1_24049715 2010.08.18 2010.08.18 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24177186C>T;NG_013346.1:g.22674G>A;NM_000147.4:c.970-1857G>A 453933133 183886689 20101123_snps_100363_chr1_24177186 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24177319T>G;NG_013346.1:g.22541A>C;NM_000147.4:c.970-1990A>C 328478155 138726843 20100804_snps_121691_chr1_24177319 1.56e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24177422T>G;NG_013346.1:g.22438A>C;NM_000147.4:c.970-2093A>C 328478156 148865554 20100804_snps_121692_chr1_24177422 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24177514C>T;NG_013346.1:g.22346G>A;NM_000147.4:c.970-2185G>A 453933134 186546348 20101123_snps_100364_chr1_24177514 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24177515C>G;NG_013346.1:g.22345G>C;NM_000147.4:c.970-2186G>C 328478157 143545934 20100804_snps_121693_chr1_24177515 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24177637G>A;NG_013346.1:g.22223C>T;NM_000147.4:c.970-2308C>T 328478158 148045826 20100804_snps_121694_chr1_24177637 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24177789G>A;NG_013346.1:g.22071C>T;NM_000147.4:c.970-2460C>T 328478159 141774858 20100804_snps_121695_chr1_24177789 1.97e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 118564167 72874118 NA18507_000029332_NCBI36.1_chr1_24050387 3.72e-01 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 163184737 72874118 NA19240_36_chr1_24050387 3.72e-01 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 218284444 72874118 pilot_1_YRI_94127_chr1_24050387 3.72e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 230463228 72874118 pilot_1_CEU_67857_chr1_24050387 3.72e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 238170683 72874118 pilot_1_CHB+JPT_55760_chr1_24050387 3.72e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 252985498 72874118 SNP30648_1_24050387 3.72e-01 2010.08.18 2010.08.18 2009.02.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24177800A>G;NG_013346.1:g.22060T>C;NM_000147.4:c.970-2471T>C 275753923 72874118 GMI_AK_SNP_74086 3.72e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 100836601 72053343 INDEL_GP36_2008a_1896677_0 1.05e-02 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 193092187 72053343 BUSHMAN-chr1-24050438-24050442 1.05e-02 2010.02.16 2010.02.16 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 287669758 72053343 GMI_NA10851_INDEL_2330 1.05e-02 2010.12.18 2010.12.20 2009.02.13 2012.11.28 137 GMI 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 287959251 72053343 GMI_AK_INDEL_10042 1.05e-02 2010.12.20 2011.12.22 2009.02.13 2012.11.28 137 PJP 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 294570191 72053343 DIP_7895_chr1_24050443 1.05e-02 2011.01.21 2011.01.21 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 326015302 72053343 JPTCHB_chr1_24050438_indel 1.05e-02 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 326015328 72053343 CEU_chr1_24050438_indel 1.05e-02 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 326019625 72053343 YRI_chr1_24050438_indel 1.05e-02 2011.03.11 2011.04.01 2009.02.13 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24177852_24177855delATAA;NG_013346.1:g.22005_22008delTTAT;NM_000147.4:c.970-2526_970-2523delTTAT 498807727 72053343 20110316_indels_chr1_24177851_24177854 1.05e-02 2012.03.19 2012.03.19 2009.02.13 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24177855_24177858delAATA;NG_013346.1:g.22002_22005delTATT;NM_000147.4:c.970-2529_970-2526delTATT 99930805 66534762 INDEL_GP36_2007a_864056_0 2008.05.06 2008.05.06 2009.02.04 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24177855_24177858delAATA;NG_013346.1:g.22002_22005delTATT;NM_000147.4:c.970-2529_970-2526delTATT 101553881 66534762 INDEL_GP36_2008a_864056_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177855_24177858delAATA;NG_013346.1:g.22002_22005delTATT;NM_000147.4:c.970-2529_970-2526delTATT 103478726 66534762 JWB-4001490 2008.06.06 2009.05.11 2009.02.04 2011.07.08 137 GMI 2517 NC_000001.10:g.24177862_24177865delAAAT;NG_013346.1:g.21995_21998delATTT;NM_000147.4:c.970-2536_970-2533delATTT 287959253 199709648 GMI_AK_INDEL_10043 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 GMI 2517 NC_000001.10:g.24177866_24177873delAAATATAC;NG_013346.1:g.21987_21994delGTATATTT;NM_000147.4:c.970-2544_970-2537delGTATATTT 287959255 201909301 GMI_AK_INDEL_10044 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177867A>T;NG_013346.1:g.21993T>A;NM_000147.4:c.970-2538T>A 87300881 61779506 JWB-2721368 2008.02.26 2008.02.26 2008.03.23 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24177867A>T;NG_013346.1:g.21993T>A;NM_000147.4:c.970-2538T>A 198170895 61779506 BUSHMAN-chr1-24050453 2010.03.06 2010.03.06 2008.03.23 2012.11.28 137 BL 2517 NC_000001.10:g.24177867A>T;NG_013346.1:g.21993T>A;NM_000147.4:c.970-2538T>A 252985503 61779506 SNP30649_1_24050454 2010.08.18 2010.08.18 2008.03.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24177867A>T;NG_013346.1:g.21993T>A;NM_000147.4:c.970-2538T>A 275753924 61779506 GMI_AK_SNP_74087 2010.12.16 2010.12.16 2008.03.23 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177869T>C;NG_013346.1:g.21991A>G;NM_000147.4:c.970-2540A>G 87300884 61779507 JWB-2721369 2008.02.26 2008.02.26 2008.03.23 2012.11.28 137 BL 2517 NC_000001.10:g.24177869T>C;NG_013346.1:g.21991A>G;NM_000147.4:c.970-2540A>G 252985507 61779507 SNP30650_1_24050456 2010.08.18 2010.08.18 2008.03.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24177869T>C;NG_013346.1:g.21991A>G;NM_000147.4:c.970-2540A>G 275753925 61779507 GMI_AK_SNP_74088 2010.12.16 2010.12.16 2008.03.23 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177871T>C;NG_013346.1:g.21989A>G;NM_000147.4:c.970-2542A>G 87300890 61779508 JWB-2721370 2008.02.26 2008.02.26 2008.03.23 2012.11.28 137 BL 2517 NC_000001.10:g.24177871T>C;NG_013346.1:g.21989A>G;NM_000147.4:c.970-2542A>G 252985511 61779508 SNP30651_1_24050458 2010.08.18 2010.08.18 2008.03.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24177871T>C;NG_013346.1:g.21989A>G;NM_000147.4:c.970-2542A>G 275753926 61779508 GMI_AK_SNP_74089 2010.12.16 2010.12.16 2008.03.23 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177873C>T;NG_013346.1:g.21987G>A;NM_000147.4:c.970-2544G>A 87300896 61779509 JWB-2721371 2008.02.26 2008.02.26 2008.03.23 2012.11.28 137 BL 2517 NC_000001.10:g.24177873C>T;NG_013346.1:g.21987G>A;NM_000147.4:c.970-2544G>A 252985515 61779509 SNP30652_1_24050460 2010.08.18 2010.08.18 2008.03.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24177873C>T;NG_013346.1:g.21987G>A;NM_000147.4:c.970-2544G>A 275753927 61779509 GMI_AK_SNP_74090 2010.12.16 2010.12.16 2008.03.23 2012.11.28 137 ABI 2517 NC_000001.10:g.24177874_24177877delACAT;NG_013346.1:g.21983_21986delATGT;NM_000147.4:c.970-2548_970-2545delATGT 41340299 35768557 hCV33743996 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24177874_24177877delACAT;NG_013346.1:g.21983_21986delATGT;NM_000147.4:c.970-2548_970-2545delATGT 287959257 35768557 GMI_AK_INDEL_10045 2010.12.20 2011.12.22 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24177874_24177881delACATACAT;NG_013346.1:g.21979_21986delATGTATGT;NM_000147.4:c.970-2552_970-2545delATGTATGT 287959259 200140521 GMI_AK_INDEL_10046 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 GMI 2517 NC_000001.10:g.24177875C>T;NG_013346.1:g.21985G>A;NM_000147.4:c.970-2546G>A 275753928 199796752 GMI_AK_SNP_74091 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 2517 NC_000001.10:g.24177876_24177879delATAC;NG_013346.1:g.21981_21984delGTAT;NM_000147.4:c.970-2550_970-2547delGTAT 101918955 72304769 INDEL_GP36_2008a_1687140_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 BCMHGSC_JDW 2517 NC_000001.10:g.24177877delT;NC_000001.10:g.24177877delTinsTACA;NG_013346.1:g.21983delA;NG_013346.1:g.21983delAinsTGTA;NM_000147.4:c.970-2548delA;NM_000147.4:c.970-2548delAinsTGTA 103478729 74473068 JWB-4001491 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 BL 2517 NC_000001.10:g.24177877T>C;NG_013346.1:g.21983A>G;NM_000147.4:c.970-2548A>G 252985519 138389821 SNP30653_1_24050464 2010.08.18 2010.08.18 2011.05.09 2012.11.28 137 GMI 2517 NC_000001.10:g.24177877T>C;NG_013346.1:g.21983A>G;NM_000147.4:c.970-2548A>G 275753929 138389821 GMI_AK_SNP_74092 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 BL 2517 NC_000001.10:g.24177921A>G;NG_013346.1:g.21939T>C;NM_000147.4:c.970-2592T>C 252985522 148376825 SNP30654_1_24050508 2010.08.18 2010.08.18 2011.05.09 2011.07.08 137 BUSHMAN 2517 NC_000001.10:g.24178065A>G;NG_013346.1:g.21795T>C;NM_000147.4:c.970-2736T>C 198170900 113246481 BUSHMAN-chr1-24050651 5.00e-04 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178065A>G;NG_013346.1:g.21795T>C;NM_000147.4:c.970-2736T>C 328478160 113246481 20100804_snps_121696_chr1_24178065 5.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24178111A>G;NG_013346.1:g.21749T>C;NM_000147.4:c.969+2739T>C 35408396 28634031 TA-079.chr1_23923417 2005.03.11 2005.05.24 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24178186T>C;NG_013346.1:g.21674A>G;NM_000147.4:c.969+2664A>G 453933135 191223003 20101123_snps_100365_chr1_24178186 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 41349388 35554549 hCV26762644 3.34e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 95223994 35554549 1104685613172 3.34e-01 2008.03.21 2008.12.02 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 98568203 35554549 1103675047323 3.34e-01 2008.04.01 2008.04.01 2006.03.15 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 99702987 35554549 INDEL_GP36_2007a_864057_0 3.34e-01 2008.05.05 2008.05.05 2006.03.15 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 101709877 35554549 INDEL_GP36_2008a_864057_1 3.34e-01 2008.05.18 2008.05.18 2006.03.15 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 101709880 35554549 INDEL_GP36_2008a_864057_2 3.34e-01 2008.05.18 2008.05.18 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 287669759 35554549 GMI_NA10851_INDEL_2331 3.34e-01 2010.12.18 2010.12.20 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 287959261 35554549 GMI_AK_INDEL_10047 3.34e-01 2010.12.20 2011.12.22 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 326015305 35554549 JPTCHB_chr1_24050894_indel 3.34e-01 2011.03.11 2011.04.01 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 326015330 35554549 CEU_chr1_24050894_indel 3.34e-01 2011.03.11 2011.04.01 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 326019627 35554549 YRI_chr1_24050894_indel 3.34e-01 2011.03.11 2011.04.01 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178308delG;NG_013346.1:g.21552delC;NM_000147.4:c.969+2542delC 498807731 35554549 20110316_indels_chr1_24178307_24178307 3.34e-01 2012.03.19 2012.03.19 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24178367G>T;NG_013346.1:g.21493C>A;NM_000147.4:c.969+2483C>A 275753930 201087951 GMI_AK_SNP_74093 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24178401G>A;NG_013346.1:g.21459C>T;NM_000147.4:c.969+2449C>T 453933136 183726477 20101123_snps_100366_chr1_24178401 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24178420C>T;NG_013346.1:g.21440G>A;NM_000147.4:c.969+2430G>A 453933137 188535160 20101123_snps_100367_chr1_24178420 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24178487C>T;NG_013346.1:g.21373G>A;NM_000147.4:c.969+2363G>A 218284445 114173044 pilot_1_YRI_94128_chr1_24051074 1.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24178489C>T;NG_013346.1:g.21371G>A;NM_000147.4:c.969+2361G>A 453933138 192791547 20101123_snps_100368_chr1_24178489 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 2517 NC_000001.10:g.24178524A>G;NG_013346.1:g.21336T>C;NM_000147.4:c.969+2326T>C 137846079 74963528 ENSSNP11504799 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24178525G>A;NC_000001.10:g.24178525G>C;NC_000001.10:g.24178525G>T;NG_013346.1:g.21335C>A;NG_013346.1:g.21335C>G;NG_013346.1:g.21335C>T;NM_000147.4:c.969+2325C>A;NM_000147.4:c.969+2325C>G;NM_000147.4:c.969+2325C>T 137846082 78779731 ENSSNP11504800 2009.05.16 2009.05.16 2009.12.01 2013.02.07 137 ILLUMINA 2517 NC_000001.10:g.24178525G>A;NC_000001.10:g.24178525G>C;NC_000001.10:g.24178525G>T;NG_013346.1:g.21335C>A;NG_013346.1:g.21335C>G;NG_013346.1:g.21335C>T;NM_000147.4:c.969+2325C>A;NM_000147.4:c.969+2325C>G;NM_000147.4:c.969+2325C>T 479988266 78779731 HumanOmni2.5-4v1_D_kgp12261793-0_B_R_1818622283 2012.01.31 2012.01.31 2009.12.01 2013.02.07 137 ILLUMINA 2517 NC_000001.10:g.24178525G>A;NC_000001.10:g.24178525G>C;NC_000001.10:g.24178525G>T;NG_013346.1:g.21335C>A;NG_013346.1:g.21335C>G;NG_013346.1:g.21335C>T;NM_000147.4:c.969+2325C>A;NM_000147.4:c.969+2325C>G;NM_000147.4:c.969+2325C>T 482286017 78779731 HumanOmni2.5-4v1_B_SNP1-24051112-0_B_R_1648307776 2012.02.01 2012.02.01 2009.12.01 2013.02.07 137 GMI 2517 NC_000001.10:g.24178568G>A;NG_013346.1:g.21292C>T;NM_000147.4:c.969+2282C>T 275753931 199503675 GMI_AK_SNP_74094 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24178568_24178569insTAA;NC_000001.10:g.24178568_24178569insTAATAATAATAATAA;NG_013346.1:g.21291_21292insTTA;NG_013346.1:g.21291_21292insTTATTATTATTATTA;NM_000147.4:c.969+2281_969+2282insTTA;NM_000147.4:c.969+2281_969+2282insTTATTATTATTATTA 326015310 142109000 JPTCHB_chr1_24051155_indel 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178568_24178569insTAA;NC_000001.10:g.24178568_24178569insTAATAATAATAATAA;NG_013346.1:g.21291_21292insTTA;NG_013346.1:g.21291_21292insTTATTATTATTATTA;NM_000147.4:c.969+2281_969+2282insTTA;NM_000147.4:c.969+2281_969+2282insTTATTATTATTATTA 326015334 142109000 CEU_chr1_24051155_indel 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178590T>A;NG_013346.1:g.21270A>T;NM_000147.4:c.969+2260A>T 230463230 114819486 pilot_1_CEU_67859_chr1_24051177 1.05e-01 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24178590T>A;NG_013346.1:g.21270A>T;NM_000147.4:c.969+2260A>T 275753932 114819486 GMI_AK_SNP_74095 1.05e-01 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 14943506 10529609 INDEL_GP34_WGS_19870 2003.11.13 2003.11.22 2003.12.05 2012.05.16 137 HGSV 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 77987631 10529609 Cor12156_DIV_20070510.chr1_23923898-23923899_1 2007.10.16 2007.10.16 2003.12.05 2012.05.16 137 HGSV 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 77994784 10529609 Cor12156_DIV_20070510.chr1_23923898-23923899_2 2007.10.16 2007.10.16 2003.12.05 2012.05.16 137 HGSV 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 81536962 10529609 Cor18555_DIV_20070510.chr1_23923898-23923899_1 2007.11.30 2007.11.30 2003.12.05 2012.05.16 137 HGSV 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 81643436 10529609 Cor18555_DIV_20070510.chr1_23923898-23923899_2 2007.12.01 2007.12.01 2003.12.05 2012.05.16 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24178592_24178593insTAA;NC_000001.10:g.24178592_24178593insTAATAATAATAATAA;NG_013346.1:g.21267_21268insTTA;NG_013346.1:g.21267_21268insTTATTATTATTATTA;NM_000147.4:c.969+2257_969+2258insTTA;NM_000147.4:c.969+2257_969+2258insTTATTATTATTATTA 95223995 10529609 1104685613173 2008.03.21 2008.12.02 2003.12.05 2012.05.16 137 GMI 2517 NC_000001.10:g.24178592_24178593insTAA;NG_013346.1:g.21267_21268insTTA;NM_000147.4:c.969+2257_969+2258insTTA 287669760 142889060 GMI_NA10851_INDEL_2332 2010.12.18 2010.12.20 2011.05.09 2012.11.28 137 GMI 2517 NC_000001.10:g.24178592_24178593insTAA;NG_013346.1:g.21267_21268insTTA;NM_000147.4:c.969+2257_969+2258insTTA 287959263 142889060 GMI_AK_INDEL_10048 2010.12.20 2011.12.22 2011.05.09 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24178572_24178573insTAATAATAATAATAATAATAA;NG_013346.1:g.21287_21288insTTATTATTATTATTATTATTA;NM_000147.4:c.969+2277_969+2278insTTATTATTATTATTATTATTA 102588024 72448395 INDEL_GP36_2008a_2143874_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 GMI 2517 NC_000001.10:g.24178593A>T;NG_013346.1:g.21267T>A;NM_000147.4:c.969+2257T>A 275753933 201469867 GMI_AK_SNP_74096 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24178801C>T;NG_013346.1:g.21059G>A;NM_000147.4:c.969+2049G>A 328478162 141962529 20100804_snps_121698_chr1_24178801 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 2517 NC_000001.10:g.24178915delA;NG_013346.1:g.20945delT;NM_000147.4:c.969+1935delT 41106052 35359105 hCV33743998 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24178933_24178938delCCCTCT;NG_013346.1:g.20922_20927delAGAGGG;NM_000147.4:c.969+1912_969+1917delAGAGGG 326015312 146285925 JPTCHB_chr1_24051519_indel 1.34e-01 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24178933_24178938delCCCTCT;NG_013346.1:g.20922_20927delAGAGGG;NM_000147.4:c.969+1912_969+1917delAGAGGG 498807735 146285925 20110316_indels_chr1_24178932_24178937 1.34e-01 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 HGSV 2517 NC_000001.10:g.24179005A>T;NG_013346.1:g.20855T>A;NM_000147.4:c.969+1845T>A 77218008 55997562 Cor12156_SNV_20070510.chr1_23924311 9.11e-02 2007.10.10 2007.10.11 2007.12.07 2012.11.28 137 BGI 2517 NC_000001.10:g.24179005A>T;NG_013346.1:g.20855T>A;NM_000147.4:c.969+1845T>A 102727915 55997562 BGI_YHSNP0131733 9.11e-02 2008.06.04 2009.06.16 2007.12.07 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24179005A>T;NG_013346.1:g.20855T>A;NM_000147.4:c.969+1845T>A 328478163 55997562 20100804_snps_121699_chr1_24179005 9.11e-02 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24179019G>A;NG_013346.1:g.20841C>T;NM_000147.4:c.969+1831C>T 87300901 61779510 JWB-2721372 1.74e-02 2008.02.26 2008.02.26 2008.03.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24179019G>A;NG_013346.1:g.20841C>T;NM_000147.4:c.969+1831C>T 328478164 61779510 20100804_snps_121700_chr1_24179019 1.74e-02 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24179046G>A;NG_013346.1:g.20814C>T;NM_000147.4:c.969+1804C>T 453933139 185130025 20101123_snps_100369_chr1_24179046 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24179048G>C;NG_013346.1:g.20812C>G;NM_000147.4:c.969+1802C>G 275753934 199723841 GMI_AK_SNP_74097 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24179091G>C;NG_013346.1:g.20769C>G;NM_000147.4:c.969+1759C>G 328478165 150022560 20100804_snps_121701_chr1_24179091 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 2517 NC_000001.10:g.24179525A>G;NG_013346.1:g.20335T>C;NM_000147.4:c.969+1325T>C 275753935 200669116 GMI_AK_SNP_74098 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 2517 NC_000001.10:g.24179574C>T;NG_013346.1:g.20286G>A;NM_000147.4:c.969+1276G>A 275753936 201900802 GMI_AK_SNP_74099 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BCM_SSAHASNP 2517 NC_000001.10:g.24179651G>A;NG_013346.1:g.20209C>T;NM_000147.4:c.969+1199C>T 9855993 6679838 chr1.NT_004391.15_519998 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 GMI 2517 NC_000001.10:g.24179651G>A;NG_013346.1:g.20209C>T;NM_000147.4:c.969+1199C>T 275753937 6679838 GMI_AK_SNP_74100 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24179690C>T;NG_013346.1:g.20170G>A;NM_000147.4:c.969+1160G>A 328478167 148780067 20100804_snps_121703_chr1_24179690 2.17e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24179694C>G;NG_013346.1:g.20166G>C;NM_000147.4:c.969+1156G>C 328478168 144892149 20100804_snps_121704_chr1_24179694 2.21e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24179700A>T;NG_013346.1:g.20160T>A;NM_000147.4:c.969+1150T>A 328478169 147962959 20100804_snps_121705_chr1_24179700 2.11e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24179723C>T;NG_013346.1:g.20137G>A;NM_000147.4:c.969+1127G>A 453933140 190009315 20101123_snps_100370_chr1_24179723 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 2517 NC_000001.10:g.24179852C>A;NG_013346.1:g.20008G>T;NM_000147.4:c.969+998G>T 143426251 80054712 ENSSNP9698933 2009.06.06 2009.10.17 2009.12.01 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24179887_24179888delGTinsC;NC_000001.10:g.24179887_24179888delGTinsT;NG_013346.1:g.19972_19973delACinsA;NG_013346.1:g.19972_19973delACinsG;NM_000147.4:c.969+962_969+963delACinsA;NM_000147.4:c.969+962_969+963delACinsG 137595156 74973290 ENSSNP11417408 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 ENSEMBL 2517 NC_000001.10:g.24179901T>C;NG_013346.1:g.19959A>G;NM_000147.4:c.969+949A>G 143516455 76796648 ENSSNP5247619 2009.06.06 2009.10.17 2009.12.01 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24179991C>T;NG_013346.1:g.19869G>A;NM_000147.4:c.969+859G>A 131768872 75017509 ENSSNP188670 2009.05.11 2009.10.14 2009.12.01 2012.11.28 137 CSHL-HAPMAP 2517 NC_000001.10:g.24180117G>A;NG_013346.1:g.19743C>T;NM_000147.4:c.969+733C>T 17344493 11804092 CSHL-HuCC-200402.chr1.NT_004610.16_4983367 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 9824740 6664538 chr1.NT_004391.15_520502 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 17344538 6664538 CSHL-HuCC-200402.chr1.NT_004610.16_4983405 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 87300911 6664538 JWB-0024121 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 BL 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 252985526 6664538 SNP30655_1_24052742 2010.08.18 2010.08.18 2003.07.11 2012.11.28 137 GMI 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 275753938 6664538 GMI_AK_SNP_74101 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 2517 NC_000001.10:g.24180155G>A;NG_013346.1:g.19705C>T;NM_000147.4:c.969+695C>T 290786579 6664538 SNP_292937_chr1_24052742 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24180237T>C;NG_013346.1:g.19623A>G;NM_000147.4:c.969+613A>G 9860585 6682044 chr1.NT_004391.15_520584 2003.06.28 2003.10.10 2003.07.11 2011.07.08 137 SC_SNP 2517 NC_000001.10:g.24180256A>C;NG_013346.1:g.19604T>G;NM_000147.4:c.969+594T>G 18257403 12124188 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4983506 3.32e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24180256A>C;NG_013346.1:g.19604T>G;NM_000147.4:c.969+594T>G 97925583 12124188 1103675047339 3.32e-01 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180256A>C;NG_013346.1:g.19604T>G;NM_000147.4:c.969+594T>G 230463232 12124188 pilot_1_CEU_67861_chr1_24052843 3.32e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24180256A>C;NG_013346.1:g.19604T>G;NM_000147.4:c.969+594T>G 475582023 12124188 GMI_AK_SNP_8250672 3.32e-01 2011.11.22 2011.11.22 2004.02.28 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24180435C>T;NG_013346.1:g.19425G>A;NM_000147.4:c.969+415G>A 18185369 12083336 SC-CHR1_NA17109-200402.chr1.NT_004610.16_4983685 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 GMI 2517 NC_000001.10:g.24180555_24180558delAATA;NG_013346.1:g.19302_19305delTATT;NM_000147.4:c.969+292_969+295delTATT 287959265 200301178 GMI_AK_INDEL_10049 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 HGSV 2517 NC_000001.10:g.24180557delT;NC_000001.10:g.24180557delTinsTAAA;NG_013346.1:g.19303delA;NG_013346.1:g.19303delAinsTTTA;NM_000147.4:c.969+293delA;NM_000147.4:c.969+293delAinsTTTA 77853954 56211737 Cor12156_DIV_20070510.chr1_23925886-23925891_1 2007.10.15 2007.10.15 2007.12.07 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180557delT;NC_000001.10:g.24180557delTinsTAAA;NG_013346.1:g.19303delA;NG_013346.1:g.19303delAinsTTTA;NM_000147.4:c.969+293delA;NM_000147.4:c.969+293delAinsTTTA 77955000 56211737 Cor12156_DIV_20070510.chr1_23925886-23925891_2 2007.10.16 2007.10.16 2007.12.07 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24180557delT;NC_000001.10:g.24180557delTinsTAAA;NG_013346.1:g.19303delA;NG_013346.1:g.19303delAinsTTTA;NM_000147.4:c.969+293delA;NM_000147.4:c.969+293delAinsTTTA 101255977 56211737 INDEL_GP36_2008a_2752389_0 2008.05.17 2008.05.17 2007.12.07 2012.11.28 137 ABI 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 41331272 35993651 hCV26638206 4.09e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 77247788 35993651 Cor12156_SNV_20070510.chr1_23925919 4.09e-01 2007.10.10 2007.10.12 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 99194331 35993651 1103675047327 4.09e-01 2008.04.03 2008.04.03 2006.03.15 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 144172535 35993651 ENSSNP5564952 4.09e-01 2009.06.06 2009.10.17 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 218284448 35993651 pilot_1_YRI_94131_chr1_24053200 4.09e-01 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 230463233 35993651 pilot_1_CEU_67862_chr1_24053200 4.09e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 238170686 35993651 pilot_1_CHB+JPT_55763_chr1_24053200 4.09e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24180613C>G;NG_013346.1:g.19247G>C;NM_000147.4:c.969+237G>C 275753939 35993651 GMI_AK_SNP_74102 4.09e-01 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 ABI 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 41286675 35904775 hCV26638207 4.09e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 77611283 35904775 Cor12156_SNV_20070510.chr1_23925929 4.09e-01 2007.10.13 2007.10.13 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 99194332 35904775 1103675047328 4.09e-01 2008.04.03 2008.04.03 2006.03.15 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 139621271 35904775 ENSSNP3504797 4.09e-01 2009.05.19 2009.10.16 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 218284449 35904775 pilot_1_YRI_94132_chr1_24053210 4.09e-01 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 230463234 35904775 pilot_1_CEU_67863_chr1_24053210 4.09e-01 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24180623T>C;NG_013346.1:g.19237A>G;NM_000147.4:c.969+227A>G 275753940 35904775 GMI_AK_SNP_74103 4.09e-01 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 77853953 55699941 Cor12156_DIV_20070510.chr1_23926124-23926126_1 2007.10.15 2007.10.15 2007.12.06 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 77954999 55699941 Cor12156_DIV_20070510.chr1_23926124-23926126_2 2007.10.16 2007.10.16 2007.12.06 2012.11.28 137 HGSV 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 77980936 55699941 Cor12156_DIV_20070510.chr1_23926124-23926126_3 2007.10.16 2007.10.16 2007.12.06 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 102033596 55699941 INDEL_GP36_2008a_2752390_0 2008.05.18 2008.05.18 2007.12.06 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 102033600 55699941 INDEL_GP36_2008a_2752390_1 2008.05.18 2008.05.18 2007.12.06 2012.11.28 137 GMI 2517 NC_000001.10:g.24180807delA;NG_013346.1:g.19053delT;NM_000147.4:c.969+43delT 287959267 55699941 GMI_AK_INDEL_10050 2010.12.20 2011.12.22 2007.12.06 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180814A>C;NG_013346.1:g.19046T>G;NM_000147.4:c.969+36T>G 453933141 182280534 20101123_snps_100371_chr1_24180814 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180814A>C;NG_013346.1:g.19046T>G;NM_000147.4:c.969+36T>G 489728343 182280534 20110521_exome_298206_chr1_24180814 1.80e-03 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180832A>T;NG_013346.1:g.19028T>A;NM_000147.4:c.969+18T>A 328478170 140246387 20100804_snps_121706_chr1_24180832 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180832A>T;NG_013346.1:g.19028T>A;NM_000147.4:c.969+18T>A 489728345 140246387 20110521_exome_298207_chr1_24180832 3.70e-03 2012.02.15 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180845C>G;NG_013346.1:g.19015G>C;NM_000147.4:c.969+5G>C 218284450 115939152 pilot_1_YRI_94133_chr1_24053432 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180845C>G;NG_013346.1:g.19015G>C;NM_000147.4:c.969+5G>C 489728347 115939152 20110521_exome_298208_chr1_24180845 9.00e-04 2012.02.15 2012.02.21 2010.07.14 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24180851G>A;NG_013346.1:g.19009C>T;NM_000147.4:c.968C>T;NP_000138.2:p.Ser323Leu 341945107 149277420 ESP2500-chr1-24180851 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24180867C>T;NG_013346.1:g.18993G>A;NM_000147.4:c.952G>A;NP_000138.2:p.Glu318Lys 488657423 201499886 20110521_exome_5527_chr1_24180867 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24180883C>T;NG_013346.1:g.18977G>A;NM_000147.4:c.936G>A;NP_000138.2:p.Leu312= 341945109 140932886 ESP2500-chr1-24180883 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 CLINSEQ_SNP 2517 NC_000001.10:g.24180893T>G;NG_013346.1:g.18967A>C;NM_000147.4:c.926A>C;NP_000138.2:p.Asp309Ala 491588988 200678715 SNV-chr1-24053480 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180951C>T;NG_013346.1:g.18909G>A;NM_000147.4:c.868G>A;NP_000138.2:p.Asp290Asn 238170687 75146878 pilot_1_CHB+JPT_55764_chr1_24053538 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180951C>T;NG_013346.1:g.18909G>A;NM_000147.4:c.868G>A;NP_000138.2:p.Asp290Asn 489728349 75146878 20110521_exome_298209_chr1_24180951 5.00e-04 2012.02.15 2012.02.21 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24180958G>A;NG_013346.1:g.18902C>T;NM_000147.4:c.861C>T;NP_000138.2:p.Ser287= 488657425 200962094 20110521_exome_5528_chr1_24180958 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24180960T>C;NG_013346.1:g.18900A>G;NM_000147.4:c.859A>G;NP_000138.2:p.Ser287Gly 341945110 144919088 ESP2500-chr1-24180960 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 CGAP-GAI 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 15887 13551 61163 2.51e-01 germline non-pathogenic 1999.08.23 2004.04.07 2000.09.19 2013.02.08 137 LEE 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 1509059 13551 6165 2.51e-01 germline non-pathogenic 2000.09.13 2003.10.10 2000.09.19 2013.02.08 137 WIAF-CSNP 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 3173102 13551 WIAF-13904 2.51e-01 germline non-pathogenic 2001.06.19 2004.04.07 2000.09.19 2013.02.08 137 LEE 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 4403381 13551 e6165 2.51e-01 germline non-pathogenic 2002.04.26 2003.10.10 2000.09.19 2013.02.08 137 CGAP-GAI 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 16248499 13551 1495238 2.51e-01 germline non-pathogenic 2003.11.18 2003.11.22 2000.09.19 2013.02.08 137 SEQUENOM 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 24792022 13551 sqnm104693 2.51e-01 germline non-pathogenic 2004.06.18 2006.11.02 2000.09.19 2013.02.08 137 ABI 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 41144120 13551 hCV12023629 2.51e-01 germline non-pathogenic 2005.07.17 2007.08.14 2000.09.19 2013.02.08 137 AFFY 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 74818826 13551 SNP_M-318696 2.51e-01 germline non-pathogenic 2007.08.09 2007.08.09 2000.09.19 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 110185906 13551 NA19240_2008_12_16_30344_chr1_24053549 2.51e-01 germline non-pathogenic 2008.12.17 2008.12.17 2000.09.19 2013.02.08 137 ILLUMINA-UK 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 118564172 13551 NA18507_000029333_NCBI36.1_chr1_24053549 2.51e-01 germline non-pathogenic 2009.01.21 2009.01.21 2000.09.19 2013.02.08 137 ENSEMBL 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 139012878 13551 ENSSNP188689 2.51e-01 germline non-pathogenic 2009.05.18 2009.10.16 2000.09.19 2013.02.08 137 GMI 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 154771400 13551 GMI_SNP_72279729 2.51e-01 germline non-pathogenic 2009.06.24 2009.06.24 2000.09.19 2013.02.08 137 SEATTLESEQ 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 159696681 13551 FUCA1-24053549 2.51e-01 germline non-pathogenic 2009.07.10 2009.07.10 2000.09.19 2013.02.08 137 ILLUMINA 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 160340787 13551 HumanOmni1-Quad_v1-0_B_rs13551-128_T_F_1562582509 2.51e-01 germline non-pathogenic 2009.08.06 2009.10.02 2000.09.19 2013.02.08 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 163184743 13551 NA19240_36_chr1_24053549 2.51e-01 germline non-pathogenic 2009.09.29 2009.09.29 2000.09.19 2013.02.08 137 OMICIA 2517 NC_000001.9:g.24053549T>C NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 169621808 13551 2009_August_001_081_FUCA1_230000_0011 2.51e-01 germline non-pathogenic 2009.10.01 2013.02.08 2000.09.19 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 218284451 13551 pilot_1_YRI_94134_chr1_24053549 2.51e-01 germline non-pathogenic 2010.04.22 2010.04.22 2000.09.19 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 230463236 13551 pilot_1_CEU_67865_chr1_24053549 2.51e-01 germline non-pathogenic 2010.05.01 2010.05.01 2000.09.19 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 238170688 13551 pilot_1_CHB+JPT_55765_chr1_24053549 2.51e-01 germline non-pathogenic 2010.05.01 2010.05.01 2000.09.19 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NP_000138.2:p.GLN286ARG NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 252841693 13551 17257 2.51e-01 germline non-pathogenic 2010.08.12 2010.08.12 2000.09.19 2013.02.08 137 BL 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 252985531 13551 SNP30656_1_24053549 2.51e-01 germline non-pathogenic 2010.08.18 2010.08.18 2000.09.19 2013.02.08 137 GMI 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 275753941 13551 GMI_AK_SNP_74104 2.51e-01 germline non-pathogenic 2010.12.16 2010.12.16 2000.09.19 2013.02.08 137 PJP 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 290786580 13551 SNP_292938_chr1_24053549 2.51e-01 germline non-pathogenic 2011.01.21 2011.01.21 2000.09.19 2013.02.08 137 NHLBI-ESP 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 341945112 13551 ESP2500-chr1-24180962 2.51e-01 germline non-pathogenic 2011.03.25 2011.03.25 2000.09.19 2013.02.08 137 ILLUMINA 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 480581422 13551 HumanOmni1-Quad_v1-0_C_rs13551-131_T_F_1863360585 2.51e-01 germline non-pathogenic 2012.01.31 2012.01.31 2000.09.19 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 489728351 13551 20110521_exome_298210_chr1_24180962 2.51e-01 germline non-pathogenic 2012.02.15 2012.02.21 2000.09.19 2013.02.08 137 EXOME_CHIP 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 491289179 13551 nonsyn_5406_chr_1_24180962 2.51e-01 germline non-pathogenic 2012.03.05 2012.03.05 2000.09.19 2013.02.08 137 CLINSEQ_SNP 2517 NC_000001.10:g.24180962T>C;NG_013346.1:g.18898A>G;NM_000147.4:c.857A>G;NP_000138.2:p.Gln286Arg 491588989 13551 SNV-chr1-24053549 2.51e-01 germline non-pathogenic 2012.03.06 2012.03.12 2000.09.19 2013.02.08 137 CLINSEQ_SNP 2517 NC_000001.10:g.24180994T>A;NG_013346.1:g.18866A>T;NM_000147.4:c.825A>T;NP_000138.2:p.Gly275= 491588990 199675692 SNV-chr1-24053581 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 LEE 2517 NC_000001.10:g.24181013C>G;NG_013346.1:g.18847G>C;NM_000147.4:c.806G>C;NP_000138.2:p.Cys269Ser 1509051 1126512 6093 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 WIAF 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 670 665 WIAF-1348 1.40e-03 1999.01.23 2006.10.25 2000.09.19 2012.11.29 137 PERLEGEN 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 68761485 665 PGP04776136 1.40e-03 2007.01.30 2007.08.14 2000.09.19 2012.11.29 137 AFFY 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 74817982 665 SNP_M-316719 1.40e-03 2007.08.09 2007.08.09 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 74863818 665 ILMN_Human_1M_rs665 1.40e-03 2007.08.29 2007.08.29 2000.09.19 2012.11.29 137 AFFY 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 76745106 665 AFFY_6_1M_SNP_A-8606438 1.40e-03 2007.08.30 2007.08.30 2000.09.19 2012.11.29 137 KRIBB_YJKIM 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 119336885 665 KHS1499132 1.40e-03 2009.02.04 2009.02.04 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 160794187 665 HumanOmni1-Quad_v1-0_B_rs665-128_T_F_1513908000 1.40e-03 2009.08.07 2009.10.04 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 174055628 665 Human1M-Duov3_B_rs665-128_T_F_1513908000 1.40e-03 2009.10.04 2009.10.04 2000.09.19 2012.11.29 137 NHLBI-ESP 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 341945116 665 ESP2500-chr1-24181041 1.40e-03 2011.03.25 2011.03.25 2000.09.19 2012.11.29 137 1000GENOMES 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 453933142 665 20101123_snps_100372_chr1_24181041 1.40e-03 2011.07.20 2011.07.20 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 481305485 665 HumanOmni2.5-4v1_B_rs665-128_T_F_1731965262 1.40e-03 2012.01.31 2012.01.31 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 481330447 665 HumanOmniExpress-12v1_C_rs665-131_T_F_1857010953 1.40e-03 2012.01.31 2012.01.31 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 482312841 665 HumanOmni1-Quad_v1-0_C_rs665-131_T_F_1857010953 1.40e-03 2012.02.01 2012.02.01 2000.09.19 2012.11.29 137 ILLUMINA 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 485447965 665 HumanOmni2.5-4v1_D_rs665-131_T_F_1857010953 1.40e-03 2012.02.05 2012.02.05 2000.09.19 2012.11.29 137 1000GENOMES 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 489728353 665 20110521_exome_298211_chr1_24181041 1.40e-03 2012.02.15 2012.02.21 2000.09.19 2012.11.29 137 EXOME_CHIP 2517 NC_000001.10:g.24181041C>T;NG_013346.1:g.18819G>A;NM_000147.4:c.778G>A;NP_000138.2:p.Val260Ile 491289180 665 nonsyn_5407_chr_1_24181041 1.40e-03 2012.03.05 2012.03.05 2000.09.19 2012.11.29 137 1000GENOMES 2517 NC_000001.10:g.24181068A>G;NG_013346.1:g.18792T>C;NM_000147.4:c.769-18T>C 488657427 200071318 20110521_exome_5529_chr1_24181068 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181089C>T;NG_013346.1:g.18771G>A;NM_000147.4:c.769-39G>A 453933143 189592813 20101123_snps_100373_chr1_24181089 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181089C>T;NG_013346.1:g.18771G>A;NM_000147.4:c.769-39G>A 489728355 189592813 20110521_exome_298212_chr1_24181089 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 20551538 12748109 WGSA-200403-chr1.chr1.NT_004610.16_4984427 2.47e-01 2004.03.18 2006.10.26 2004.04.05 2012.11.28 137 ABI 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 41116587 12748109 hCV11577990 2.47e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 97925584 12748109 1103675047340 2.47e-01 2008.03.30 2008.03.30 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 110185912 12748109 NA19240_2008_12_16_30345_chr1_24053764 2.47e-01 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 163184750 12748109 NA19240_36_chr1_24053764 2.47e-01 2009.09.29 2009.09.29 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 218284452 12748109 pilot_1_YRI_94135_chr1_24053764 2.47e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 230463237 12748109 pilot_1_CEU_67866_chr1_24053764 2.47e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 238170689 12748109 pilot_1_CHB+JPT_55766_chr1_24053764 2.47e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 252985533 12748109 SNP30657_1_24053764 2.47e-01 2010.08.18 2010.08.18 2004.04.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 275753942 12748109 GMI_AK_SNP_74105 2.47e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 482286038 12748109 HumanOmni2.5-4v1_B_SNP1-24053764-0_B_F_1621625040 2.47e-01 2012.02.01 2012.02.01 2004.04.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24181177C>T;NG_013346.1:g.18683G>A;NM_000147.4:c.769-127G>A 483308664 12748109 HumanOmni2.5-4v1_D_kgp4178395-0_B_F_1817357623 2.47e-01 2012.02.02 2012.02.02 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181235C>T;NG_013346.1:g.18625G>A;NM_000147.4:c.769-185G>A 453933144 180775731 20101123_snps_100374_chr1_24181235 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24181244T>C;NG_013346.1:g.18616A>G;NM_000147.4:c.769-194A>G 328478172 147782089 20100804_snps_121708_chr1_24181244 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24181283C>T;NG_013346.1:g.18577G>A;NM_000147.4:c.769-233G>A 328478173 140192920 20100804_snps_121709_chr1_24181283 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24181284G>A;NG_013346.1:g.18576C>T;NM_000147.4:c.769-234C>T 238170690 79819479 pilot_1_CHB+JPT_55767_chr1_24053871 1.33e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24181284G>A;NG_013346.1:g.18576C>T;NM_000147.4:c.769-234C>T 275753943 79819479 GMI_AK_SNP_74106 1.33e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24181311C>G;NG_013346.1:g.18549G>C;NM_000147.4:c.769-261G>C 118564177 74063315 NA18507_000029334_NCBI36.1_chr1_24053898 1.80e-03 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181311C>G;NG_013346.1:g.18549G>C;NM_000147.4:c.769-261G>C 328478174 74063315 20100804_snps_121710_chr1_24181311 1.80e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24181380G>A;NG_013346.1:g.18480C>T;NM_000147.4:c.769-330C>T 328478175 144991111 20100804_snps_121711_chr1_24181380 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24181789C>G;NG_013346.1:g.18071G>C;NM_000147.4:c.769-739G>C 453933145 185488357 20101123_snps_100375_chr1_24181789 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2517 NC_000001.10:g.24181824delA;NG_013346.1:g.18036delT;NM_000147.4:c.769-774delT 41212997 35899950 hCV33555388 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24181936G>A;NG_013346.1:g.17924C>T;NM_000147.4:c.769-886C>T 328478176 149089306 20100804_snps_121712_chr1_24181936 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24181956C>T;NG_013346.1:g.17904G>A;NM_000147.4:c.769-906G>A 453933146 191384392 20101123_snps_100376_chr1_24181956 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2517 NC_000001.10:g.24181988_24181989insCAAAAA;NG_013346.1:g.17871_17872insTTTTTG;NM_000147.4:c.769-939_769-938insTTTTTG 193092189 111763555 BUSHMAN-chr1-24054575-24054575 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24182094T>C;NG_013346.1:g.17766A>G;NM_000147.4:c.769-1044A>G 453933147 183041939 20101123_snps_100377_chr1_24182094 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24182135T>C;NG_013346.1:g.17725A>G;NM_000147.4:c.769-1085A>G 453933148 186774411 20101123_snps_100378_chr1_24182135 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24182339G>A;NG_013346.1:g.17521C>T;NM_000147.4:c.769-1289C>T 328478177 144836996 20100804_snps_121713_chr1_24182339 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 17342279 11803575 CSHL-HuCC-200402.chr1.NT_004610.16_4985598 2.47e-01 2004.02.19 2006.10.26 2004.02.28 2012.11.28 137 ABI 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 43907614 11803575 hCV311624 2.47e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 AFFY 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 76761725 11803575 AFFY_6_1M_SNP_A-8623165 2.47e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 99194333 11803575 1103675047330 2.47e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 105036190 11803575 KHS1428513 2.47e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 110185922 11803575 NA19240_2008_12_16_30346_chr1_24054935 2.47e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 131768897 11803575 ENSSNP188732 2.47e-01 2009.05.11 2010.03.07 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 154771409 11803575 GMI_SNP_71537352 2.47e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 160006009 11803575 HumanOmni1-Quad_v1-0_B_rs11803575-128_B_F_1568179402 2.47e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 163184756 11803575 NA19240_36_chr1_24054935 2.47e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 218284455 11803575 pilot_1_YRI_94138_chr1_24054935 2.47e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 230463238 11803575 pilot_1_CEU_67867_chr1_24054935 2.47e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 238170691 11803575 pilot_1_CHB+JPT_55768_chr1_24054935 2.47e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 244274118 11803575 CVDSNP55v1_A_rs11803575 2.47e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 BL 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 252985538 11803575 SNP30658_1_24054935 2.47e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 275753944 11803575 GMI_AK_SNP_74107 2.47e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 290786581 11803575 SNP_292939_chr1_24054935 2.47e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24182348A>T;NG_013346.1:g.17512T>A;NM_000147.4:c.769-1298T>A 480089775 11803575 HumanOmni1-Quad_v1-0_C_rs11803575-131_B_F_1863510268 2.47e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24182471T>C;NG_013346.1:g.17389A>G;NM_000147.4:c.769-1421A>G 328478178 138765570 20100804_snps_121714_chr1_24182471 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 2517 NC_000001.10:g.24182718_24182719insC;NG_013346.1:g.17141_17142insG;NM_000147.4:c.769-1669_769-1668insG 41191845 34219363 hCV33555415 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24182770T>C;NG_013346.1:g.17090A>G;NM_000147.4:c.769-1720A>G 453933149 191669716 20101123_snps_100379_chr1_24182770 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24182923A>C;NG_013346.1:g.16937T>G;NM_000147.4:c.769-1873T>G 453933150 183806369 20101123_snps_100380_chr1_24182923 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 2517 NC_000001.10:g.24182949C>G;NG_013346.1:g.16911G>C;NM_000147.4:c.769-1899G>C 85909257 57357685 Cor18517_SNV_20070510.chr1_23928255 1.10e-02 2007.12.10 2007.12.10 2007.12.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24182949C>G;NG_013346.1:g.16911G>C;NM_000147.4:c.769-1899G>C 218284456 57357685 pilot_1_YRI_94139_chr1_24055536 1.10e-02 2010.04.22 2010.04.22 2007.12.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24182986T>G;NG_013346.1:g.16874A>C;NM_000147.4:c.769-1936A>C 230463239 116456835 pilot_1_CEU_67868_chr1_24055573 2.34e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24183055T>C;NG_013346.1:g.16805A>G;NM_000147.4:c.769-2005A>G 453933151 187683839 20101123_snps_100381_chr1_24183055 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24183098A>C;NG_013346.1:g.16762T>G;NM_000147.4:c.769-2048T>G 328478179 141898837 20100804_snps_121715_chr1_24183098 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24183199C>T;NG_013346.1:g.16661G>A;NM_000147.4:c.769-2149G>A 453933152 191075951 20101123_snps_100382_chr1_24183199 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24183397G>T;NG_013346.1:g.16463C>A;NM_000147.4:c.769-2347C>A 275753945 201651090 GMI_AK_SNP_74108 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24183402A>G;NG_013346.1:g.16458T>C;NM_000147.4:c.769-2352T>C 328478180 145638484 20100804_snps_121716_chr1_24183402 1.28e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 2517 NC_000001.10:g.24183406C>T;NG_013346.1:g.16454G>A;NM_000147.4:c.769-2356G>A 275753946 200351131 GMI_AK_SNP_74109 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24183469G>A;NG_013346.1:g.16391C>T;NM_000147.4:c.769-2419C>T 453933153 182183304 20101123_snps_100383_chr1_24183469 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 2517 NC_000001.10:g.24183487A>G;NG_013346.1:g.16373T>C;NM_000147.4:c.769-2437T>C 143015444 74454849 ENSSNP9245840 1.83e-02 2009.06.05 2009.10.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183487A>G;NG_013346.1:g.16373T>C;NM_000147.4:c.769-2437T>C 328478181 74454849 20100804_snps_121717_chr1_24183487 1.83e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183493_24183494insA;NG_013346.1:g.16366_16367insT;NM_000147.4:c.769-2444_769-2443insT 326015337 145048129 CEU_chr1_24056084_indel 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183493_24183494insA;NG_013346.1:g.16366_16367insT;NM_000147.4:c.769-2444_769-2443insT 498807739 145048129 20110316_indels_chr1_24183497_24183498 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 GMI 2517 NC_000001.10:g.24183882G>C;NG_013346.1:g.15978C>G;NM_000147.4:c.768+2406C>G 275753947 141884464 GMI_AK_SNP_74110 9.00e-04 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183882G>C;NG_013346.1:g.15978C>G;NM_000147.4:c.768+2406C>G 328478182 141884464 20100804_snps_121718_chr1_24183882 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BGI 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 102727916 74223775 BGI_YHSNP0131734 1.16e-01 2008.06.04 2009.06.16 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 218284457 74223775 pilot_1_YRI_94140_chr1_24056568 1.16e-01 2010.04.22 2010.04.22 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 230463241 74223775 pilot_1_CEU_67870_chr1_24056568 1.16e-01 2010.05.01 2010.05.01 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 238170692 74223775 pilot_1_CHB+JPT_55769_chr1_24056568 1.16e-01 2010.05.01 2010.05.01 2009.02.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 275753948 74223775 GMI_AK_SNP_74111 1.16e-01 2010.12.16 2010.12.16 2009.02.23 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 482286068 74223775 HumanOmni2.5-4v1_B_SNP1-24056568-0_T_F_1618026043 1.16e-01 2012.02.01 2012.02.01 2009.02.23 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24183981G>A;NG_013346.1:g.15879C>T;NM_000147.4:c.768+2307C>T 483667280 74223775 HumanOmni2.5-4v1_D_kgp6127249-0_T_F_1821380404 1.16e-01 2012.02.02 2012.02.02 2009.02.23 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24183990_24183991insT;NG_013346.1:g.15869_15870insA;NM_000147.4:c.768+2297_768+2298insA 193092191 113826697 BUSHMAN-chr1-24056578-24056578 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24183992_24183993insT;NG_013346.1:g.15867_15868insA;NM_000147.4:c.768+2295_768+2296insA 101968660 72317280 INDEL_GP36_2008a_1911754_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24184146C>A;NG_013346.1:g.15714G>T;NM_000147.4:c.768+2142G>T 328478183 150645501 20100804_snps_121719_chr1_24184146 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24184345A>G;NG_013346.1:g.15515T>C;NM_000147.4:c.768+1943T>C 453933154 186695862 20101123_snps_100384_chr1_24184345 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 2517 NC_000001.10:g.24184448A>G;NG_013346.1:g.15412T>C;NM_000147.4:c.768+1840T>C 6397553 4649122 NT_004391.13_645641 2003.02.12 2003.10.10 2003.02.20 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24184563_24184564insT;NG_013346.1:g.15296_15297insA;NM_000147.4:c.768+1724_768+1725insA 15335880 11447446 INDEL_GP34_WGS_484486 2003.11.14 2003.11.22 2004.02.28 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24184564_24184565insT;NG_013346.1:g.15295_15296insA;NM_000147.4:c.768+1723_768+1724insA 99832162 71794603 INDEL_GP36_2007a_172950_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24184615C>T;NG_013346.1:g.15245G>A;NM_000147.4:c.768+1673G>A 453933155 192824790 20101123_snps_100385_chr1_24184615 7.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24184634A>G;NG_013346.1:g.15226T>C;NM_000147.4:c.768+1654T>C 205517128 112357079 BCM_CMT_1011-237419 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 GMI 2517 NC_000001.10:g.24184664C>T;NG_013346.1:g.15196G>A;NM_000147.4:c.768+1624G>A 275753949 200400794 GMI_AK_SNP_74112 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24184666T>C;NG_013346.1:g.15194A>G;NM_000147.4:c.768+1622A>G 328478184 139853637 20100804_snps_121720_chr1_24184666 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 2517 NC_000001.10:g.24184955T>C;NG_013346.1:g.14905A>G;NM_000147.4:c.768+1333A>G 198170910 112004776 BUSHMAN-chr1-24057541 1.80e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24184955T>C;NG_013346.1:g.14905A>G;NM_000147.4:c.768+1333A>G 328478185 112004776 20100804_snps_121721_chr1_24184955 1.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24184962G>A;NG_013346.1:g.14898C>T;NM_000147.4:c.768+1326C>T 328478186 147525471 20100804_snps_121722_chr1_24184962 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24184993C>T;NG_013346.1:g.14867G>A;NM_000147.4:c.768+1295G>A 328478187 140179893 20100804_snps_121723_chr1_24184993 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 2517 NC_000001.10:g.24185024C>G;NG_013346.1:g.14836G>C;NM_000147.4:c.768+1264G>C 198170915 111535994 BUSHMAN-chr1-24057610 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 SSAHASNP 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 20584565 12755062 WGSA-200403-chr1.chr1.NT_004610.16_4988275 2.47e-01 2004.03.18 2006.10.26 2004.04.05 2012.11.28 137 ABI 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 43904347 12755062 hCV26638259 2.47e-01 2005.07.18 2005.07.18 2004.04.05 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 68761486 12755062 PGP13403374 2.47e-01 2007.01.30 2008.03.31 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 99194334 12755062 1103675047332 2.47e-01 2008.04.03 2008.04.03 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 110185928 12755062 NA19240_2008_12_16_30347_chr1_24057612 2.47e-01 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 139012629 12755062 ENSSNP188800 2.47e-01 2009.05.18 2009.10.16 2004.04.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 154771418 12755062 GMI_SNP_37684833 2.47e-01 2009.06.24 2009.06.24 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 163184761 12755062 NA19240_36_chr1_24057612 2.47e-01 2009.09.29 2009.09.29 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 218284458 12755062 pilot_1_YRI_94141_chr1_24057612 2.47e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 230463242 12755062 pilot_1_CEU_67871_chr1_24057612 2.47e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 238170693 12755062 pilot_1_CHB+JPT_55770_chr1_24057612 2.47e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 252985541 12755062 SNP30659_1_24057612 2.47e-01 2010.08.18 2010.08.18 2004.04.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 275753950 12755062 GMI_AK_SNP_74113 2.47e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 2517 NC_000001.10:g.24185025T>A;NG_013346.1:g.14835A>T;NM_000147.4:c.768+1263A>T 290786582 12755062 SNP_292940_chr1_24057612 2.47e-01 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 LIMM_YCR_PGG 2517 NC_000001.10:g.24185043A>G ARRAY(0x5e53b850) 532264083 207460058 NC_000001.10:g.24185043A>G germline untested 2012.06.20 2012.06.20 2012.06.20 2012.09.29 137 1000GENOMES 2517 NC_000001.10:g.24185099C>G;NG_013346.1:g.14761G>C;NM_000147.4:c.768+1189G>C 453933156 184870119 20101123_snps_100386_chr1_24185099 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24185189A>G;NG_013346.1:g.14671T>C;NM_000147.4:c.768+1099T>C 453933157 188517669 20101123_snps_100387_chr1_24185189 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24185469A>T;NG_013346.1:g.14391T>A;NM_000147.4:c.768+819T>A 453933158 192867678 20101123_snps_100388_chr1_24185469 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2517 NC_000001.10:g.24185473C>T;NG_013346.1:g.14387G>A;NM_000147.4:c.768+815G>A 198170921 111847165 BUSHMAN-chr1-24058059 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 BGI 2517 NC_000001.10:g.24185648A>C;NG_013346.1:g.14212T>G;NM_000147.4:c.768+640T>G 102727917 78199675 BGI_YHSNP0131735 1.16e-01 2008.06.04 2009.06.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185648A>C;NG_013346.1:g.14212T>G;NM_000147.4:c.768+640T>G 218284459 78199675 pilot_1_YRI_94142_chr1_24058235 1.16e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185648A>C;NG_013346.1:g.14212T>G;NM_000147.4:c.768+640T>G 230463243 78199675 pilot_1_CEU_67872_chr1_24058235 1.16e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185648A>C;NG_013346.1:g.14212T>G;NM_000147.4:c.768+640T>G 238170694 78199675 pilot_1_CHB+JPT_55771_chr1_24058235 1.16e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24185648A>C;NG_013346.1:g.14212T>G;NM_000147.4:c.768+640T>G 275753951 78199675 GMI_AK_SNP_74114 1.16e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24185734T>A;NG_013346.1:g.14126A>T;NM_000147.4:c.768+554A>T 198170925 112676665 BUSHMAN-chr1-24058320 2010.03.06 2010.03.06 2010.07.04 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24185834A>G;NG_013346.1:g.14026T>C;NM_000147.4:c.768+454T>C 453933159 184629666 20101123_snps_100389_chr1_24185834 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 18289710 12141409 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4989127 2.54e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ABI 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 41329373 12141409 hCV26638265 2.54e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 99194335 12141409 1103675047333 2.54e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 143990972 12141409 ENSSNP10012539 2.54e-01 2009.06.06 2009.10.17 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 154771426 12141409 GMI_SNP_218476821 2.54e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 BL 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 252985547 12141409 SNP30660_1_24058464 2.54e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 275753952 12141409 GMI_AK_SNP_74115 2.54e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 290786583 12141409 SNP_292941_chr1_24058464 2.54e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24185877C>T;NG_013346.1:g.13983G>A;NM_000147.4:c.768+411G>A 328478188 12141409 20100804_snps_121724_chr1_24185877 2.54e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186003C>T;NG_013346.1:g.13857G>A;NM_000147.4:c.768+285G>A 453933160 189441194 20101123_snps_100390_chr1_24186003 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24186036_24186037delAC;NG_013346.1:g.13823_13824delGT;NM_000147.4:c.768+251_768+252delGT 498807743 200180648 20110316_indels_chr1_24186035_24186036 7.30e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24186058T>A;NG_013346.1:g.13802A>T;NM_000147.4:c.768+230A>T 87300916 61779511 JWB-2721373 2008.02.26 2008.02.26 2008.03.23 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24186058T>A;NG_013346.1:g.13802A>T;NM_000147.4:c.768+230A>T 137846085 61779511 ENSSNP11504801 2009.05.16 2009.05.16 2008.03.23 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24186060A>T;NG_013346.1:g.13800T>A;NM_000147.4:c.768+228T>A 137846088 78290390 ENSSNP11504802 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24186253A>T;NG_013346.1:g.13607T>A;NM_000147.4:c.768+35T>A 488657429 202000040 20110521_exome_5530_chr1_24186253 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24186352C>T;NG_013346.1:g.13508G>A;NM_000147.4:c.704G>A;NP_000138.2:p.Cys235Tyr 491588991 200493075 SNV-chr1-24058939 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24186377T>C;NG_013346.1:g.13483A>G;NM_000147.4:c.679A>G;NP_000138.2:p.Ile227Val 491588992 202079642 SNV-chr1-24058964 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186465T>G;NG_013346.1:g.13395A>C;NM_000147.4:c.663-72A>C 453933161 182052080 20101123_snps_100391_chr1_24186465 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24186543A>G;NG_013346.1:g.13317T>C;NM_000147.4:c.663-150T>C 275753953 201390242 GMI_AK_SNP_74116 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BUSHMAN 2517 NC_000001.10:g.24186610T>G;NG_013346.1:g.13250A>C;NM_000147.4:c.663-217A>C 198170930 112108250 BUSHMAN-chr1-24059196 9.00e-04 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186610T>G;NG_013346.1:g.13250A>C;NM_000147.4:c.663-217A>C 453933162 112108250 20101123_snps_100392_chr1_24186610 9.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186693G>T;NG_013346.1:g.13167C>A;NM_000147.4:c.663-300C>A 453933163 189182061 20101123_snps_100393_chr1_24186693 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24186810A>C;NG_013346.1:g.13050T>G;NM_000147.4:c.663-417T>G 275753954 199541615 GMI_AK_SNP_74117 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 2517 NC_000001.10:g.24186934T>C;NG_013346.1:g.12926A>G;NM_000147.4:c.663-541A>G 275753955 145447703 GMI_AK_SNP_74118 1.24e-01 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186934T>C;NG_013346.1:g.12926A>G;NM_000147.4:c.663-541A>G 328478189 145447703 20100804_snps_121725_chr1_24186934 1.24e-01 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24186967G>C;NG_013346.1:g.12893C>G;NM_000147.4:c.663-574C>G 453933164 181170236 20101123_snps_100394_chr1_24186967 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187010C>T;NG_013346.1:g.12850G>A;NM_000147.4:c.663-617G>A 453933165 186299527 20101123_snps_100395_chr1_24187010 1.05e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187143T>C;NG_013346.1:g.12717A>G;NM_000147.4:c.663-750A>G 453933166 191538380 20101123_snps_100396_chr1_24187143 7.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24187148_24187149insT;NG_013346.1:g.12711_12712insA;NM_000147.4:c.663-756_663-755insA 287959269 201252026 GMI_AK_INDEL_10051 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 1000GENOMES 2517 NC_000001.10:g.24187188C>T;NG_013346.1:g.12672G>A;NM_000147.4:c.663-795G>A 453933167 181549106 20101123_snps_100397_chr1_24187188 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187190G>A;NG_013346.1:g.12670C>T;NM_000147.4:c.663-797C>T 328478190 148411211 20100804_snps_121726_chr1_24187190 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24187197C>T;NG_013346.1:g.12663G>A;NM_000147.4:c.663-804G>A 328478191 142544578 20100804_snps_121727_chr1_24187197 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24187256G>A;NG_013346.1:g.12604C>T;NM_000147.4:c.663-863C>T 453933168 186025875 20101123_snps_100398_chr1_24187256 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 18087035 12030587 SC-CHR1_NA11321-200402.chr1.NT_004610.16_4990551 4.30e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 87300921 12030587 JWB-0024122 4.30e-02 2008.02.26 2008.02.26 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 97925585 12030587 1103675047341 4.30e-02 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 108064082 12030587 CEU.trio.12.15.2008_31651_chr1_24059888 4.30e-02 2008.12.15 2008.12.15 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 110185945 12030587 NA19240_2008_12_16_30349_chr1_24059888 4.30e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 118564181 12030587 NA18507_000029335_NCBI36.1_chr1_24059888 4.30e-02 2009.01.21 2009.01.21 2004.02.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 137846091 12030587 ENSSNP11504803 4.30e-02 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 154771434 12030587 GMI_SNP_71965827 4.30e-02 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 163184769 12030587 NA19240_36_chr1_24059888 4.30e-02 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 163981160 12030587 NA07022_36_chr1_24059888 4.30e-02 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 166242987 12030587 NA20431_36_chr1_24059888 4.30e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 198170935 12030587 BUSHMAN-chr1-24059887 4.30e-02 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 205258005 12030587 BCM_CMT_1011-108733 4.30e-02 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 218284460 12030587 pilot_1_YRI_94143_chr1_24059888 4.30e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 230463244 12030587 pilot_1_CEU_67873_chr1_24059888 4.30e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 238170695 12030587 pilot_1_CHB+JPT_55772_chr1_24059888 4.30e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 252985551 12030587 SNP30661_1_24059888 4.30e-02 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24187301A>G;NG_013346.1:g.12559T>C;NM_000147.4:c.663-908T>C 275753956 12030587 GMI_AK_SNP_74119 4.30e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187414C>A;NG_013346.1:g.12446G>T;NM_000147.4:c.663-1021G>T 230463245 115549671 pilot_1_CEU_67874_chr1_24060001 4.60e-03 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 18260996 12126122 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4990802 4.49e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 20483949 12126122 WGSA-200403-chr1.chr1.NT_004610.16_4990802 4.49e-02 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 87300926 12126122 JWB-0024123 4.49e-02 2008.02.26 2008.02.26 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 97925586 12126122 1103675047342 4.49e-02 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 118564185 12126122 NA18507_000029336_NCBI36.1_chr1_24060139 4.49e-02 2009.01.21 2009.01.21 2004.02.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 137846094 12126122 ENSSNP11504804 4.49e-02 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 154771440 12126122 GMI_SNP_149956339 4.49e-02 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 163184775 12126122 NA19240_36_chr1_24060139 4.49e-02 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 163981171 12126122 NA07022_36_chr1_24060139 4.49e-02 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 198170940 12126122 BUSHMAN-chr1-24060138 4.49e-02 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 BL 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 252985555 12126122 SNP30662_1_24060139 4.49e-02 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 275753957 12126122 GMI_AK_SNP_74120 4.49e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 290786584 12126122 SNP_292942_chr1_24060139 4.49e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187552A>G;NG_013346.1:g.12308T>C;NM_000147.4:c.663-1159T>C 328478192 12126122 20100804_snps_121728_chr1_24187552 4.49e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187584C>T;NG_013346.1:g.12276G>A;NM_000147.4:c.663-1191G>A 453933169 190745185 20101123_snps_100399_chr1_24187584 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187589G>A;NG_013346.1:g.12271C>T;NM_000147.4:c.663-1196C>T 453933170 183264998 20101123_snps_100400_chr1_24187589 7.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187669C>A;NC_000001.10:g.24187669C>G;NG_013346.1:g.12191G>C;NG_013346.1:g.12191G>T;NM_000147.4:c.663-1276G>C;NM_000147.4:c.663-1276G>T 453933171 187764671 20101123_snps_100401_chr1_24187669 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24187738G>A;NG_013346.1:g.12122C>T;NM_000147.4:c.663-1345C>T 328478193 140967752 20100804_snps_121729_chr1_24187738 1.21e-01 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24187791C>T;NG_013346.1:g.12069G>A;NM_000147.4:c.663-1398G>A 453933172 190848553 20101123_snps_100402_chr1_24187791 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2517 NC_000001.10:g.24187813delA;NG_013346.1:g.12047delT;NM_000147.4:c.663-1420delT 41284696 34240712 hCV33555468 2005.07.17 2005.07.17 2006.03.13 2011.09.09 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24187813delA;NG_013346.1:g.12047delT;NM_000147.4:c.663-1420delT 98568204 34240712 1103675047335 2008.04.01 2008.04.01 2006.03.13 2011.09.09 137 DEVINE_LAB 2517 NC_000001.10:g.24187813_24187814insA;NG_013346.1:g.12046_12047insT;NM_000147.4:c.663-1421_663-1420insT 100758323 66493841 INDEL_GP36_2008a_1408206_0 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24187813_24187814insA;NG_013346.1:g.12046_12047insT;NM_000147.4:c.663-1421_663-1420insT 100758326 66493841 INDEL_GP36_2008a_1408206_1 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 ENSEMBL 2517 NC_000001.10:g.24187815A>C;NG_013346.1:g.12045T>G;NM_000147.4:c.663-1422T>G 137846097 75646190 ENSSNP11504805 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24187836A>G;NC_000001.10:g.24187836delA;NG_013346.1:g.12024T>C;NG_013346.1:g.12024delT;NM_000147.4:c.663-1443T>C;NM_000147.4:c.663-1443delT 95223996 71026632 1104685613174 2008.03.21 2008.12.02 2009.02.13 2012.05.16 137 1000GENOMES 2517 NC_000001.10:g.24187836A>G;NC_000001.10:g.24187836delA;NG_013346.1:g.12024T>C;NG_013346.1:g.12024delT;NM_000147.4:c.663-1443T>C;NM_000147.4:c.663-1443delT 326015339 71026632 CEU_chr1_24060423_indel 2011.03.11 2011.04.01 2009.02.13 2012.05.16 137 1000GENOMES 2517 NC_000001.10:g.24187958A>C;NG_013346.1:g.11902T>G;NM_000147.4:c.663-1565T>G 218284461 114905228 pilot_1_YRI_94144_chr1_24060545 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24187958A>C;NG_013346.1:g.11902T>G;NM_000147.4:c.663-1565T>G 480870279 114905228 HumanOmni2.5-4v1_D_kgp15510015-0_B_R_1836663881 9.20e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24187958A>C;NG_013346.1:g.11902T>G;NM_000147.4:c.663-1565T>G 482286155 114905228 HumanOmni2.5-4v1_B_SNP1-24060545-0_B_R_1631251501 9.20e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24187986A>C;NG_013346.1:g.11874T>G;NM_000147.4:c.663-1593T>G 328478194 144769431 20100804_snps_121730_chr1_24187986 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24188086T>C;NG_013346.1:g.11774A>G;NM_000147.4:c.662+1538A>G 453933173 182981062 20101123_snps_100403_chr1_24188086 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24188283G>C;NG_013346.1:g.11577C>G;NM_000147.4:c.662+1341C>G 210487755 114171154 YRI.trio.3.2010_13317_chr1_24060870 1.05e-02 2010.03.29 2010.03.29 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24188283G>C;NG_013346.1:g.11577C>G;NM_000147.4:c.662+1341C>G 218284462 114171154 pilot_1_YRI_94145_chr1_24060870 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24188857G>A;NG_013346.1:g.11003C>T;NM_000147.4:c.662+767C>T 328478195 146740979 20100804_snps_121731_chr1_24188857 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24188859G>A;NG_013346.1:g.11001C>T;NM_000147.4:c.662+765C>T 453933174 187886739 20101123_snps_100404_chr1_24188859 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24188949G>A;NG_013346.1:g.10911C>T;NM_000147.4:c.662+675C>T 453933175 193000743 20101123_snps_100405_chr1_24188949 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24189050G>A;NG_013346.1:g.10810C>T;NM_000147.4:c.662+574C>T 328478196 140384451 20100804_snps_121732_chr1_24189050 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24189073T>C;NG_013346.1:g.10787A>G;NM_000147.4:c.662+551A>G 453933176 184487401 20101123_snps_100406_chr1_24189073 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24189076T>G;NG_013346.1:g.10784A>C;NM_000147.4:c.662+548A>C 453933177 187543591 20101123_snps_100407_chr1_24189076 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24189111T>A;NG_013346.1:g.10749A>T;NM_000147.4:c.662+513A>T 328478197 145597505 20100804_snps_121733_chr1_24189111 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24189153C>G;NG_013346.1:g.10707G>C;NM_000147.4:c.662+471G>C 453933178 192355612 20101123_snps_100408_chr1_24189153 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2517 NC_000001.10:g.24189307C>T;NG_013346.1:g.10553G>A;NM_000147.4:c.662+317G>A 18285425 12139061 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4992557 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24189307C>T;NG_013346.1:g.10553G>A;NM_000147.4:c.662+317G>A 74997322 12139061 ILMN_Human_1M_rs12139061 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24189307C>T;NG_013346.1:g.10553G>A;NM_000147.4:c.662+317G>A 119754633 12139061 KHS1834113 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24189307C>T;NG_013346.1:g.10553G>A;NM_000147.4:c.662+317G>A 171887992 12139061 Human1M-Duov3_B_rs12139061-128_B_F_1513959230 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189428A>G;NG_013346.1:g.10432T>C;NM_000147.4:c.662+196T>C 453933179 184993786 20101123_snps_100409_chr1_24189428 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24189468G>A;NG_013346.1:g.10392C>T;NM_000147.4:c.662+156C>T 328478198 138123333 20100804_snps_121734_chr1_24189468 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24189520T>C;NG_013346.1:g.10340A>G;NM_000147.4:c.662+104A>G 328478199 149568638 20100804_snps_121735_chr1_24189520 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24189545C>T;NG_013346.1:g.10315G>A;NM_000147.4:c.662+79G>A 328478200 143265910 20100804_snps_121736_chr1_24189545 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24189623C>A;NG_013346.1:g.10237G>T;NM_000147.4:c.662+1G>T 488657431 201143600 20110521_exome_5531_chr1_24189623 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 OMICIA 2517 NC_000001.9:g.24062225G>T NC_000001.10:g.24189638G>T;NG_013346.1:g.10222C>A;NM_000147.4:c.648C>A;NP_000138.2:p.Tyr216Ter 187504684 80358198 2009_August_001_080_FUCA1_230000_0007 germline pathogenic 2010.02.04 2013.02.08 2010.02.04 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NM_000147.4:c.648C>A NC_000001.10:g.24189638G>T;NG_013346.1:g.10222C>A;NM_000147.4:c.648C>A;NP_000138.2:p.Tyr216Ter 252841692 80358198 17253 germline pathogenic 2010.08.12 2010.08.12 2010.02.04 2013.02.08 137 NHLBI-ESP 2517 NC_000001.10:g.24189638G>T;NG_013346.1:g.10222C>A;NM_000147.4:c.648C>A;NP_000138.2:p.Tyr216Ter 341945117 80358198 ESP2500-chr1-24189638 germline pathogenic 2011.03.25 2011.03.25 2010.02.04 2013.02.08 137 1000GENOMES 2517 NC_000001.10:g.24189647T>C;NG_013346.1:g.10213A>G;NM_000147.4:c.639A>G;NP_000138.2:p.Pro213= 488657433 200409671 20110521_exome_5532_chr1_24189647 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189722C>A;NG_013346.1:g.10138G>T;NM_000147.4:c.564G>T;NP_000138.2:p.Trp188Cys 453933180 189315801 20101123_snps_100410_chr1_24189722 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 2517 NC_000001.10:g.24189753C>T;NG_013346.1:g.10107G>A;NM_000147.4:c.533G>A;NP_000138.2:p.Arg178His 341945119 145537354 ESP2500-chr1-24189753 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 2517 NC_000001.10:g.24189754G>A;NG_013346.1:g.10106C>T;NM_000147.4:c.532C>T;NP_000138.2:p.Arg178Cys 341945121 149540896 ESP2500-chr1-24189754 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24189768C>G;NG_013346.1:g.10092G>C;NM_000147.4:c.525-7G>C 488657435 199820324 20110521_exome_5533_chr1_24189768 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 SI_EXO 2517 NC_000001.10:g.24189769A>C;NG_013346.1:g.10091T>G;NM_000147.4:c.525-8T>G 52053957 41268125 NT_004610.17_7014111 0 variation has been flagged as failed by submitter 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 HGSV 2517 NC_000001.10:g.24189769A>C;NG_013346.1:g.10091T>G;NM_000147.4:c.525-8T>G 77749273 41268125 Cor12156_SNV_20070510.chr1_23935075 0 variation has been flagged as failed by submitter 2007.10.14 2007.10.14 2006.10.18 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189769A>C;NG_013346.1:g.10091T>G;NM_000147.4:c.525-8T>G 488657437 41268125 20110521_exome_5534_chr1_24189769 0 variation has been flagged as failed by submitter 2012.02.13 2012.02.13 2006.10.18 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189781C>T;NG_013346.1:g.10079G>A;NM_000147.4:c.525-20G>A 453933181 180788085 20101123_snps_100411_chr1_24189781 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189781C>T;NG_013346.1:g.10079G>A;NM_000147.4:c.525-20G>A 489728357 180788085 20110521_exome_298213_chr1_24189781 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189793T>C;NG_013346.1:g.10067A>G;NM_000147.4:c.525-32A>G 453933182 184674121 20101123_snps_100412_chr1_24189793 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189793T>C;NG_013346.1:g.10067A>G;NM_000147.4:c.525-32A>G 489728359 184674121 20110521_exome_298214_chr1_24189793 9.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189797G>A;NG_013346.1:g.10063C>T;NM_000147.4:c.525-36C>T 453933183 189533100 20101123_snps_100413_chr1_24189797 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189797G>A;NG_013346.1:g.10063C>T;NM_000147.4:c.525-36C>T 489728361 189533100 20110521_exome_298215_chr1_24189797 5.00e-04 2012.02.15 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189883G>T;NG_013346.1:g.9977C>A;NM_000147.4:c.525-122C>A 218284463 78587515 pilot_1_YRI_94146_chr1_24062470 9.20e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24189883G>T;NG_013346.1:g.9977C>A;NM_000147.4:c.525-122C>A 480957176 78587515 HumanOmni2.5-4v1_D_kgp15835050-0_B_F_1838145895 9.20e-03 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24189883G>T;NG_013346.1:g.9977C>A;NM_000147.4:c.525-122C>A 482286236 78587515 HumanOmni2.5-4v1_B_SNP1-24062470-0_B_F_1625905671 9.20e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24189900C>A;NG_013346.1:g.9960G>T;NM_000147.4:c.525-139G>T 198170945 113797647 BUSHMAN-chr1-24062486 5.00e-04 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24189900C>A;NG_013346.1:g.9960G>T;NM_000147.4:c.525-139G>T 328478201 113797647 20100804_snps_121737_chr1_24189900 5.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 GMI 2517 NC_000001.10:g.24190106C>G;NG_013346.1:g.9754G>C;NM_000147.4:c.525-345G>C 275753958 143150363 GMI_AK_SNP_74121 1.16e-01 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24190106C>G;NG_013346.1:g.9754G>C;NM_000147.4:c.525-345G>C 328478202 143150363 20100804_snps_121738_chr1_24190106 1.16e-01 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24190149C>A;NG_013346.1:g.9711G>T;NM_000147.4:c.525-388G>T 453933184 181233629 20101123_snps_100414_chr1_24190149 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24190324A>T;NG_013346.1:g.9536T>A;NM_000147.4:c.525-563T>A 453933185 185694312 20101123_snps_100415_chr1_24190324 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24190337G>A;NG_013346.1:g.9523C>T;NM_000147.4:c.525-576C>T 328478205 144075983 20100804_snps_121741_chr1_24190337 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24190373A>G;NG_013346.1:g.9487T>C;NM_000147.4:c.525-612T>C 218284464 80285522 pilot_1_YRI_94147_chr1_24062960 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24190383C>T;NG_013346.1:g.9477G>A;NM_000147.4:c.525-622G>A 453933186 190593079 20101123_snps_100416_chr1_24190383 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24190406C>T;NG_013346.1:g.9454G>A;NM_000147.4:c.525-645G>A 328478206 150696184 20100804_snps_121742_chr1_24190406 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24190460T>C;NG_013346.1:g.9400A>G;NM_000147.4:c.525-699A>G 328478207 139005325 20100804_snps_121743_chr1_24190460 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24190485_24190487delATC;NG_013346.1:g.9373_9375delGAT;NM_000147.4:c.525-726_525-724delGAT 326019630 140888277 YRI_chr1_24063071_indel 7.30e-03 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24190485_24190487delATC;NG_013346.1:g.9373_9375delGAT;NM_000147.4:c.525-726_525-724delGAT 498807747 140888277 20110316_indels_chr1_24190484_24190486 7.30e-03 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24190531C>T;NG_013346.1:g.9329G>A;NM_000147.4:c.525-770G>A 328478208 149878565 20100804_snps_121744_chr1_24190531 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24190616G>A;NG_013346.1:g.9244C>T;NM_000147.4:c.525-855C>T 328478209 143903189 20100804_snps_121745_chr1_24190616 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24190637C>T;NG_013346.1:g.9223G>A;NM_000147.4:c.525-876G>A 453933187 181779935 20101123_snps_100417_chr1_24190637 7.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2517 NC_000001.10:g.24190693C>T;NG_013346.1:g.9167G>A;NM_000147.4:c.525-932G>A 275753959 139865501 GMI_AK_SNP_74122 3.20e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24190693C>T;NG_013346.1:g.9167G>A;NM_000147.4:c.525-932G>A 328478210 139865501 20100804_snps_121746_chr1_24190693 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24190753T>A;NG_013346.1:g.9107A>T;NM_000147.4:c.525-992A>T 9899623 6701072 chr1.NT_004391.15_531100 2003.06.28 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24190825G>A;NG_013346.1:g.9035C>T;NM_000147.4:c.525-1064C>T 453933188 187124858 20101123_snps_100418_chr1_24190825 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 2517 NC_000001.10:g.24191036T>G;NG_013346.1:g.8824A>C;NM_000147.4:c.524+945A>C 23668037 16828763 afd0998509 1.14e-02 2004.08.20 2004.08.20 2004.09.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191036T>G;NG_013346.1:g.8824A>C;NM_000147.4:c.524+945A>C 218284465 16828763 pilot_1_YRI_94148_chr1_24063623 1.14e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191194T>G;NG_013346.1:g.8666A>C;NM_000147.4:c.524+787A>C 328478212 146721314 20100804_snps_121748_chr1_24191194 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 2517 NC_000001.10:g.24191219G>T;NG_013346.1:g.8641C>A;NM_000147.4:c.524+762C>A 18274999 12133557 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4994469 1.17e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 BGI 2517 NC_000001.10:g.24191219G>T;NG_013346.1:g.8641C>A;NM_000147.4:c.524+762C>A 102727918 12133557 BGI_rs12133557 1.17e-01 2008.06.04 2009.06.16 2004.02.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24191219G>T;NG_013346.1:g.8641C>A;NM_000147.4:c.524+762C>A 275753960 12133557 GMI_AK_SNP_74123 1.17e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191219G>T;NG_013346.1:g.8641C>A;NM_000147.4:c.524+762C>A 328478213 12133557 20100804_snps_121749_chr1_24191219 1.17e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191314C>T;NG_013346.1:g.8546G>A;NM_000147.4:c.524+667G>A 328478214 142664465 20100804_snps_121750_chr1_24191314 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 2517 NC_000001.10:g.24191352G>A;NG_013346.1:g.8508C>T;NM_000147.4:c.524+629C>T 80563943 58833609 Cor18507_SNV_20070510.chr1_23936658 2007.11.26 2007.11.26 2007.12.15 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24191355C>T;NG_013346.1:g.8505G>A;NM_000147.4:c.524+626G>A 328478215 151011185 20100804_snps_121751_chr1_24191355 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 2517 NC_000001.10:g.24191407T>C;NG_013346.1:g.8453A>G;NM_000147.4:c.524+574A>G 154771451 76216985 GMI_SNP_72216723 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24191407T>C;NG_013346.1:g.8453A>G;NM_000147.4:c.524+574A>G 275753961 76216985 GMI_AK_SNP_74124 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24191414T>C;NG_013346.1:g.8446A>G;NM_000147.4:c.524+567A>G 154771457 79939558 GMI_SNP_71692608 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24191414T>C;NG_013346.1:g.8446A>G;NM_000147.4:c.524+567A>G 275753962 79939558 GMI_AK_SNP_74125 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24191417A>G;NG_013346.1:g.8443T>C;NM_000147.4:c.524+564T>C 154771464 74727608 GMI_SNP_71999204 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24191417A>G;NG_013346.1:g.8443T>C;NM_000147.4:c.524+564T>C 275753963 74727608 GMI_AK_SNP_74126 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191441delC;NG_013346.1:g.8419delG;NM_000147.4:c.524+540delG 498807751 199570643 20110316_indels_chr1_24191440_24191440 5.00e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24191516A>G;NG_013346.1:g.8344T>C;NM_000147.4:c.524+465T>C 166242997 113576680 NA20431_36_chr1_24064103 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24191523T>C;NG_013346.1:g.8337A>G;NM_000147.4:c.524+458A>G 453933189 192408915 20101123_snps_100419_chr1_24191523 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24191688G>A;NG_013346.1:g.8172C>T;NM_000147.4:c.524+293C>T 453933190 182551662 20101123_snps_100420_chr1_24191688 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 44007122 34570472 hCV11546265 2.52e-01 2005.07.18 2006.11.03 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 75019974 34570472 ILMN_Human_1M_rs34570472 2.52e-01 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 99194336 34570472 1103675047344 2.52e-01 2008.04.03 2008.04.03 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 110185961 34570472 NA19240_2008_12_16_30351_chr1_24064307 2.52e-01 2008.12.17 2008.12.17 2006.03.14 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 118564191 34570472 NA18507_000029337_NCBI36.1_chr1_24064307 2.52e-01 2009.01.21 2009.01.21 2006.03.14 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 119911498 34570472 KHS1913959 2.52e-01 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 139012399 34570472 ENSSNP188920 2.52e-01 2009.05.18 2009.10.16 2006.03.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 154771473 34570472 GMI_SNP_150056212 2.52e-01 2009.06.24 2009.06.24 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 163184781 34570472 NA19240_36_chr1_24064307 2.52e-01 2009.09.29 2009.09.29 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 173590594 34570472 Human1M-Duov3_B_rs34570472-128_T_F_1514003890 2.52e-01 2009.10.04 2009.10.04 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 218284467 34570472 pilot_1_YRI_94150_chr1_24064307 2.52e-01 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 230463247 34570472 pilot_1_CEU_67876_chr1_24064307 2.52e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 238170696 34570472 pilot_1_CHB+JPT_55773_chr1_24064307 2.52e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 275753964 34570472 GMI_AK_SNP_74127 2.52e-01 2010.12.16 2010.12.16 2006.03.14 2012.11.28 137 PJP 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 290786585 34570472 SNP_292943_chr1_24064307 2.52e-01 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 482286286 34570472 HumanOmni2.5-4v1_B_SNP1-24064307-0_T_F_1617452680 2.52e-01 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24191720A>G;NG_013346.1:g.8140T>C;NM_000147.4:c.524+261T>C 484316182 34570472 HumanOmni2.5-4v1_D_kgp966969-0_T_F_1817700427 2.52e-01 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24191760T>C;NG_013346.1:g.8100A>G;NM_000147.4:c.524+221A>G 453933191 186237968 20101123_snps_100421_chr1_24191760 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24191811C>T;NG_013346.1:g.8049G>A;NM_000147.4:c.524+170G>A 328478216 140913808 20100804_snps_121752_chr1_24191811 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24191812G>A;NG_013346.1:g.8048C>T;NM_000147.4:c.524+169C>T 328478217 150190315 20100804_snps_121753_chr1_24191812 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24191824T>C;NG_013346.1:g.8036A>G;NM_000147.4:c.524+157A>G 453933192 190081110 20101123_snps_100422_chr1_24191824 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24191906G>T;NG_013346.1:g.7954C>A;NM_000147.4:c.524+75C>A 453933193 182688504 20101123_snps_100423_chr1_24191906 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 2517 NC_000001.10:g.24191964C>A;NG_013346.1:g.7896G>T;NM_000147.4:c.524+17G>T 491588993 200097772 SNV-chr1-24064551 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24191987C>T;NG_013346.1:g.7873G>A;NM_000147.4:c.518G>A;NP_000138.2:p.Arg173Gln 341945123 148194937 ESP2500-chr1-24191987 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 2517 NC_000001.10:g.24192003A>G;NG_013346.1:g.7857T>C;NM_000147.4:c.502T>C;NP_000138.2:p.Leu168= 341945125 147389792 ESP2500-chr1-24192003 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 WIAF-CSNP 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 3173103 2228424 WIAF-13916 1.80e-03 2001.06.19 2007.08.14 2001.08.15 2012.11.28 137 APPLERA_GI 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 48410969 2228424 hCV16171153 1.80e-03 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 68761487 2228424 PGP17792376 1.80e-03 2007.01.30 2008.03.31 2001.08.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 161046581 2228424 HumanOmni1-Quad_v1-0_B_SNP1-24064655-0_B_R_1588057783 1.80e-03 2009.08.07 2009.10.05 2001.08.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 210487758 2228424 YRI.trio.3.2010_13318_chr1_24064655 1.80e-03 2010.03.29 2010.03.29 2001.08.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 218284468 2228424 pilot_1_YRI_94151_chr1_24064655 1.80e-03 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 341945127 2228424 ESP2500-chr1-24192068 1.80e-03 2011.03.25 2011.03.25 2001.08.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 479212779 2228424 HumanOmni1-Quad_v1-0_C_kgp15359114-0_B_R_1836362099 1.80e-03 2012.01.30 2012.01.30 2001.08.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 480831347 2228424 HumanOmni2.5-4v1_D_kgp15359114-0_B_R_1836362099 1.80e-03 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 482286298 2228424 HumanOmni2.5-4v1_B_SNP1-24064655-0_B_R_1631198455 1.80e-03 2012.02.01 2012.02.01 2001.08.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 489728363 2228424 20110521_exome_298216_chr1_24192068 1.80e-03 2012.02.15 2012.02.21 2001.08.15 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24192068G>A;NG_013346.1:g.7792C>T;NM_000147.4:c.437C>T;NP_000138.2:p.Pro146Leu 491289181 2228424 nonsyn_5408_chr_1_24192068 1.80e-03 2012.03.05 2012.03.05 2001.08.15 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24192072A>G;NG_013346.1:g.7788T>C;NM_000147.4:c.433T>C;NP_000138.2:p.Trp145Arg 341945130 150062050 ESP2500-chr1-24192072 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192072A>G;NG_013346.1:g.7788T>C;NM_000147.4:c.433T>C;NP_000138.2:p.Trp145Arg 488657439 150062050 20110521_exome_5535_chr1_24192072 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24192072A>G;NG_013346.1:g.7788T>C;NM_000147.4:c.433T>C;NP_000138.2:p.Trp145Arg 491289182 150062050 nonsyn_5409_chr_1_24192072 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24192072A>G;NG_013346.1:g.7788T>C;NM_000147.4:c.433T>C;NP_000138.2:p.Trp145Arg 491588994 150062050 SNV-chr1-24064659 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24192100C>T;NG_013346.1:g.7760G>A;NM_000147.4:c.405G>A;NP_000138.2:p.Thr135= 341945131 145153173 ESP2500-chr1-24192100 9.00e-04 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192100C>T;NG_013346.1:g.7760G>A;NM_000147.4:c.405G>A;NP_000138.2:p.Thr135= 488657441 145153173 20110521_exome_5536_chr1_24192100 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24192100C>T;NG_013346.1:g.7760G>A;NM_000147.4:c.405G>A;NP_000138.2:p.Thr135= 491588995 145153173 SNV-chr1-24064687 9.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24192103C>G;NG_013346.1:g.7757G>C;NM_000147.4:c.402G>C;NP_000138.2:p.Leu134Phe 341945133 143691289 ESP2500-chr1-24192103 1.80e-03 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192103C>G;NG_013346.1:g.7757G>C;NM_000147.4:c.402G>C;NP_000138.2:p.Leu134Phe 488657443 143691289 20110521_exome_5537_chr1_24192103 1.80e-03 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24192103C>G;NG_013346.1:g.7757G>C;NM_000147.4:c.402G>C;NP_000138.2:p.Leu134Phe 491289183 143691289 nonsyn_5410_chr_1_24192103 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24192103C>G;NG_013346.1:g.7757G>C;NM_000147.4:c.402G>C;NP_000138.2:p.Leu134Phe 491588996 143691289 SNV-chr1-24064690 1.80e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2517 NC_000001.10:g.24192151G>A;NG_013346.1:g.7709C>T;NM_000147.4:c.390-36C>T 491588997 201194440 SNV-chr1-24064738 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24192164C>A;NG_013346.1:g.7696G>T;NM_000147.4:c.390-49G>T 198170950 112192936 BUSHMAN-chr1-24064750 5.00e-04 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192164C>A;NG_013346.1:g.7696G>T;NM_000147.4:c.390-49G>T 328478218 112192936 20100804_snps_121754_chr1_24192164 5.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192164C>A;NG_013346.1:g.7696G>T;NM_000147.4:c.390-49G>T 489728365 112192936 20110521_exome_298217_chr1_24192164 5.00e-04 2012.02.15 2012.02.21 2010.07.04 2012.11.28 137 ABI 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 43873745 34902309 hCV64773 3.75e-01 2005.07.18 2005.07.18 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 75069320 34902309 ILMN_Human_1M_rs34902309 3.75e-01 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 HGSV 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 81189192 34902309 Cor18507_SNV_20070510.chr1_23937506 3.75e-01 2007.11.28 2007.11.28 2006.03.14 2012.11.28 137 HGSV 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 84276938 34902309 Cor19129_SNV_20070510.chr1_23937506 3.75e-01 2007.12.06 2007.12.06 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 99194337 34902309 1103675047345 3.75e-01 2008.04.03 2008.04.03 2006.03.14 2012.11.28 137 BGI 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 102727919 34902309 BGI_rs34902309 3.75e-01 2008.06.04 2009.06.16 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 110185969 34902309 NA19240_2008_12_16_30352_chr1_24064787 3.75e-01 2008.12.17 2008.12.17 2006.03.14 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 118564197 34902309 NA18507_000029338_NCBI36.1_chr1_24064787 3.75e-01 2009.01.21 2009.01.21 2006.03.14 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 119913503 34902309 KHS1914962 3.75e-01 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 139012375 34902309 ENSSNP188931 3.75e-01 2009.05.18 2009.10.16 2006.03.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 154771484 34902309 GMI_SNP_37597637 3.75e-01 2009.06.24 2009.06.24 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 163184788 34902309 NA19240_36_chr1_24064787 3.75e-01 2009.09.29 2009.09.29 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 173594520 34902309 Human1M-Duov3_B_rs34902309-128_T_F_1514043499 3.75e-01 2009.10.04 2009.10.04 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 218284469 34902309 pilot_1_YRI_94152_chr1_24064787 3.75e-01 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 230463248 34902309 pilot_1_CEU_67877_chr1_24064787 3.75e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 238170697 34902309 pilot_1_CHB+JPT_55774_chr1_24064787 3.75e-01 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 BL 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 252985559 34902309 SNP30663_1_24064787 3.75e-01 2010.08.18 2010.08.18 2006.03.14 2012.11.28 137 GMI 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 275753965 34902309 GMI_AK_SNP_74128 3.75e-01 2010.12.16 2010.12.16 2006.03.14 2012.11.28 137 PJP 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 290786586 34902309 SNP_292944_chr1_24064787 3.75e-01 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 482286304 34902309 HumanOmni2.5-4v1_B_SNP1-24064787-0_T_F_1618274459 3.75e-01 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24192200A>G;NG_013346.1:g.7660T>C;NM_000147.4:c.390-85T>C 484216736 34902309 HumanOmni2.5-4v1_D_kgp9130179-0_T_F_1817632190 3.75e-01 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 BGI 2517 NC_000001.10:g.24192379G>C;NG_013346.1:g.7481C>G;NM_000147.4:c.390-264C>G 102727920 74937660 BGI_YHSNP0131736 1.03e-01 2008.06.04 2009.06.16 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192379G>C;NG_013346.1:g.7481C>G;NM_000147.4:c.390-264C>G 230463249 74937660 pilot_1_CEU_67878_chr1_24064966 1.03e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192379G>C;NG_013346.1:g.7481C>G;NM_000147.4:c.390-264C>G 238170698 74937660 pilot_1_CHB+JPT_55775_chr1_24064966 1.03e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24192379G>C;NG_013346.1:g.7481C>G;NM_000147.4:c.390-264C>G 275753966 74937660 GMI_AK_SNP_74129 1.03e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24192436C>T;NG_013346.1:g.7424G>A;NM_000147.4:c.390-321G>A 198170959 112501219 BUSHMAN-chr1-24065022 5.00e-04 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192436C>T;NG_013346.1:g.7424G>A;NM_000147.4:c.390-321G>A 328478219 112501219 20100804_snps_121755_chr1_24192436 5.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BGI 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 102727921 74223776 BGI_YHSNP0131737 1.23e-01 2008.06.04 2009.06.16 2009.02.23 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 198170964 74223776 BUSHMAN-chr1-24065039 1.23e-01 2010.03.06 2010.03.06 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 218284470 74223776 pilot_1_YRI_94153_chr1_24065040 1.23e-01 2010.04.22 2010.04.22 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 230463250 74223776 pilot_1_CEU_67879_chr1_24065040 1.23e-01 2010.05.01 2010.05.01 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 238170699 74223776 pilot_1_CHB+JPT_55776_chr1_24065040 1.23e-01 2010.05.01 2010.05.01 2009.02.23 2012.11.28 137 GMI 2517 NC_000001.10:g.24192453T>C;NG_013346.1:g.7407A>G;NM_000147.4:c.390-338A>G 275753967 74223776 GMI_AK_SNP_74130 1.23e-01 2010.12.16 2010.12.16 2009.02.23 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192494G>T;NG_013346.1:g.7366C>A;NM_000147.4:c.390-379C>A 453933194 187414970 20101123_snps_100424_chr1_24192494 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24192556C>A;NG_013346.1:g.7304G>T;NM_000147.4:c.390-441G>T 328478220 147070541 20100804_snps_121756_chr1_24192556 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24192628C>T;NG_013346.1:g.7232G>A;NM_000147.4:c.390-513G>A 218284471 114076840 pilot_1_YRI_94154_chr1_24065215 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 CSHL-HAPMAP 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 16454577 10799804 CSHL-HuAA-200402.chr1.NT_004610.16_4996000 2.50e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 17373066 10799804 CSHL-HuCC-200402.chr1.NT_004610.16_4996000 2.50e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 18293012 10799804 SC-CHR1_NA07340-200402.chr1.NT_004610.16_4996000 2.50e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 99194338 10799804 1103675047346 2.50e-01 2008.04.03 2008.04.03 2004.02.27 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 139981457 10799804 ENSSNP188939 2.50e-01 2009.05.19 2010.03.07 2004.02.27 2012.11.28 137 GMI 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 154771489 10799804 GMI_SNP_71374659 2.50e-01 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 163184795 10799804 NA19240_36_chr1_24065337 2.50e-01 2009.09.29 2009.09.29 2004.02.27 2012.11.28 137 BL 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 252985561 10799804 SNP30664_1_24065337 2.50e-01 2010.08.18 2010.08.18 2004.02.27 2012.11.28 137 GMI 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 275753968 10799804 GMI_AK_SNP_74131 2.50e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 290786587 10799804 SNP_292945_chr1_24065337 2.50e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192750C>T;NG_013346.1:g.7110G>A;NM_000147.4:c.390-635G>A 328478221 10799804 20100804_snps_121757_chr1_24192750 2.50e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24192755T>C;NG_013346.1:g.7105A>G;NM_000147.4:c.390-640A>G 328478222 144012957 20100804_snps_121758_chr1_24192755 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24193020A>C;NG_013346.1:g.6840T>G;NM_000147.4:c.390-905T>G 453933195 192215709 20101123_snps_100425_chr1_24193020 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193129T>C;NG_013346.1:g.6731A>G;NM_000147.4:c.390-1014A>G 453933196 183137723 20101123_snps_100426_chr1_24193129 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193393C>G;NG_013346.1:g.6467G>C;NM_000147.4:c.389+995G>C 453933197 188766853 20101123_snps_100427_chr1_24193393 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193451C>T;NG_013346.1:g.6409G>A;NM_000147.4:c.389+937G>A 328478223 144364353 20100804_snps_121759_chr1_24193451 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24193467G>A;NG_013346.1:g.6393C>T;NM_000147.4:c.389+921C>T 453933198 193293864 20101123_snps_100428_chr1_24193467 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193532A>G;NG_013346.1:g.6328T>C;NM_000147.4:c.389+856T>C 108064090 72663299 CEU.trio.12.15.2008_31653_chr1_24066119 6.00e-03 2008.12.15 2008.12.15 2009.02.14 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24193532A>G;NG_013346.1:g.6328T>C;NM_000147.4:c.389+856T>C 230463251 72663299 pilot_1_CEU_67880_chr1_24066119 6.00e-03 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24193538C>T;NG_013346.1:g.6322G>A;NM_000147.4:c.389+850G>A 453933199 184142678 20101123_snps_100429_chr1_24193538 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193561C>T;NG_013346.1:g.6299G>A;NM_000147.4:c.389+827G>A 453933200 189479129 20101123_snps_100430_chr1_24193561 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193632C>T;NG_013346.1:g.6228G>A;NM_000147.4:c.389+756G>A 328478224 148374857 20100804_snps_121760_chr1_24193632 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24193634G>T;NG_013346.1:g.6226C>A;NM_000147.4:c.389+754C>A 230463252 75969099 pilot_1_CEU_67881_chr1_24066221 4.10e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193636T>C;NG_013346.1:g.6224A>G;NM_000147.4:c.389+752A>G 218284472 116414369 pilot_1_YRI_94155_chr1_24066223 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24193691C>T;NG_013346.1:g.6169G>A;NM_000147.4:c.389+697G>A 218284473 115946801 pilot_1_YRI_94156_chr1_24066278 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24193693T>A;NG_013346.1:g.6167A>T;NM_000147.4:c.389+695A>T 453933201 191576612 20101123_snps_100431_chr1_24193693 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193707T>A;NG_013346.1:g.6153A>T;NM_000147.4:c.389+681A>T 453933202 184054309 20101123_snps_100432_chr1_24193707 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 4227987 3003325 AL590609.12_273 1.23e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 4369332 3003325 AL590609.14_273 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 12993115 3003325 NT_004391.15_534088 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 102727922 3003325 BGI_rs3003325 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 218284474 3003325 pilot_1_YRI_94157_chr1_24066328 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 230463253 3003325 pilot_1_CEU_67882_chr1_24066328 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 238170700 3003325 pilot_1_CHB+JPT_55777_chr1_24066328 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24193741T>C;NG_013346.1:g.6119A>G;NM_000147.4:c.389+647A>G 275753969 3003325 GMI_AK_SNP_74132 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 4227990 3003328 AL590609.12_358 1.23e-01 2001.10.15 2008.03.31 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 4369335 3003328 AL590609.14_358 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 12993116 3003328 NT_004391.15_534173 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 23856296 3003328 afd4265920 1.23e-01 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 68761488 3003328 PGP04265920 1.23e-01 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 102727923 3003328 BGI_rs3003328 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 218284475 3003328 pilot_1_YRI_94158_chr1_24066413 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 230463254 3003328 pilot_1_CEU_67883_chr1_24066413 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 238170701 3003328 pilot_1_CHB+JPT_55778_chr1_24066413 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24193826C>T;NG_013346.1:g.6034G>A;NM_000147.4:c.389+562G>A 275753970 3003328 GMI_AK_SNP_74133 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 HGSV 2517 NC_000001.10:g.24193836C>G;NG_013346.1:g.6024G>C;NM_000147.4:c.389+552G>C 81226142 59148830 Cor18507_SNV_20070510.chr1_23939142 8.70e-03 2007.11.28 2007.11.28 2007.12.15 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24193836C>G;NG_013346.1:g.6024G>C;NM_000147.4:c.389+552G>C 118564200 59148830 NA18507_000029339_NCBI36.1_chr1_24066423 8.70e-03 2009.01.21 2009.01.21 2007.12.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193836C>G;NG_013346.1:g.6024G>C;NM_000147.4:c.389+552G>C 218284476 59148830 pilot_1_YRI_94159_chr1_24066423 8.70e-03 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 4227991 3003329 AL590609.12_407 1.23e-01 2001.10.15 2008.03.31 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 4369336 3003329 AL590609.14_407 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 12993117 3003329 NT_004391.15_534222 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 102727924 3003329 BGI_rs3003329 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 160605894 3003329 HumanOmni1-Quad_v1-0_B_rs3003329-128_B_F_1535759424 1.23e-01 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 218284477 3003329 pilot_1_YRI_94160_chr1_24066462 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 230463255 3003329 pilot_1_CEU_67884_chr1_24066462 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 238170702 3003329 pilot_1_CHB+JPT_55779_chr1_24066462 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 244293216 3003329 CVDSNP55v1_A_rs3003329 1.23e-01 2010.06.10 2010.06.10 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 275753971 3003329 GMI_AK_SNP_74134 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 480738696 3003329 HumanOmni2.5-4v1_B_rs3003329-128_B_F_1735662195 1.23e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 480754537 3003329 HumanOmniExpress-12v1_C_rs3003329-131_B_F_1857946250 1.23e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 481637999 3003329 HumanOmni1-Quad_v1-0_C_rs3003329-131_B_F_1865310815 1.23e-01 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24193875T>C;NG_013346.1:g.5985A>G;NM_000147.4:c.389+513A>G 485164081 3003329 HumanOmni2.5-4v1_D_rs3003329-131_B_F_1857946250 1.23e-01 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193924C>A;NG_013346.1:g.5936G>T;NM_000147.4:c.389+464G>T 453933203 188689753 20101123_snps_100433_chr1_24193924 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24193930A>G;NG_013346.1:g.5930T>C;NM_000147.4:c.389+458T>C 210487761 77861613 YRI.trio.3.2010_13319_chr1_24066517 1.05e-02 2010.03.29 2010.03.29 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24193930A>G;NG_013346.1:g.5930T>C;NM_000147.4:c.389+458T>C 218284478 77861613 pilot_1_YRI_94161_chr1_24066517 1.05e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24193934A>G;NG_013346.1:g.5926T>C;NM_000147.4:c.389+454T>C 453933204 181454786 20101123_snps_100434_chr1_24193934 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 4228413 3003621 AL590728.9_111343 1.23e-01 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 4369337 3003621 AL590609.14_497 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 12993118 3003621 NT_004391.15_534312 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 23856300 3003621 afd3978272 1.23e-01 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 HGSV 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 84399311 3003621 Cor18555_SNV_20070510.chr1_23939271 1.23e-01 2007.12.07 2007.12.07 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 102727925 3003621 BGI_rs3003621 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 218284479 3003621 pilot_1_YRI_94162_chr1_24066552 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 230463256 3003621 pilot_1_CEU_67885_chr1_24066552 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 238170703 3003621 pilot_1_CHB+JPT_55780_chr1_24066552 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24193965T>C;NG_013346.1:g.5895A>G;NM_000147.4:c.389+423A>G 275753972 3003621 GMI_AK_SNP_74135 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24193992G>A;NG_013346.1:g.5868C>T;NM_000147.4:c.389+396C>T 453933205 187153748 20101123_snps_100435_chr1_24193992 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 4227994 3003332 AL590609.12_543 1.23e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 4369441 3003332 AL590728.10_111481 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 12993119 3003332 NT_004391.15_534358 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 83248782 3003332 Cor18555_SNV_20070510.chr1_23939317 1.23e-01 2007.12.04 2007.12.04 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 102727926 3003332 BGI_rs3003332 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 218284481 3003332 pilot_1_YRI_94164_chr1_24066598 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 230463257 3003332 pilot_1_CEU_67886_chr1_24066598 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 238170704 3003332 pilot_1_CHB+JPT_55781_chr1_24066598 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24194011G>A;NG_013346.1:g.5849C>T;NM_000147.4:c.389+377C>T 275753973 3003332 GMI_AK_SNP_74136 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 4227995 3003333 AL590609.12_546 4.16e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 4369338 3003333 AL590609.14_546 4.16e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 12993409 3003333 NT_004391.15_534361 4.16e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 20477266 3003333 WGSA-200403-chr1.chr1.NT_004610.16_4997264 4.16e-01 2004.03.18 2004.03.18 2001.11.05 2012.11.28 137 ABI 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 41147754 3003333 hCV16193614 4.16e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 80668962 3003333 Cor18507_SNV_20070510.chr1_23939320 4.16e-01 2007.11.26 2007.11.26 2001.11.05 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 84398703 3003333 Cor18555_SNV_20070510.chr1_23939320 4.16e-01 2007.12.07 2007.12.07 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 99194339 3003333 1103675047347 4.16e-01 2008.04.03 2008.04.03 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 102727927 3003333 BGI_rs3003333 4.16e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 110185986 3003333 NA19240_2008_12_16_30354_chr1_24066601 4.16e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 118564206 3003333 NA18507_000029340_NCBI36.1_chr1_24066601 4.16e-01 2009.01.21 2009.01.21 2001.11.05 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 131769008 3003333 ENSSNP188966 4.16e-01 2009.05.11 2009.10.14 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 154771496 3003333 GMI_SNP_133098926 4.16e-01 2009.06.24 2009.06.24 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 163184802 3003333 NA19240_36_chr1_24066601 4.16e-01 2009.09.29 2009.09.29 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 218284482 3003333 pilot_1_YRI_94165_chr1_24066601 4.16e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 230463258 3003333 pilot_1_CEU_67887_chr1_24066601 4.16e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 238170705 3003333 pilot_1_CHB+JPT_55782_chr1_24066601 4.16e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 275753974 3003333 GMI_AK_SNP_74137 4.16e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 2517 NC_000001.10:g.24194014A>T;NG_013346.1:g.5846T>A;NM_000147.4:c.389+374T>A 290786588 3003333 SNP_292946_chr1_24066601 4.16e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194017T>C;NG_013346.1:g.5843A>G;NM_000147.4:c.389+371A>G 328478225 141602265 20100804_snps_121761_chr1_24194017 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24194046C>T;NG_013346.1:g.5814G>A;NM_000147.4:c.389+342G>A 453933206 190337223 20101123_snps_100436_chr1_24194046 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 2517 NC_000001.10:g.24194154A>G;NG_013346.1:g.5706T>C;NM_000147.4:c.389+234T>C 35460776 28695769 TA-079.chr1_23939460 2005.03.11 2005.05.24 2011.09.09 137 ILLUMINA 2517 NC_000001.10:g.24194154A>G;NG_013346.1:g.5706T>C;NM_000147.4:c.389+234T>C 74978379 28695769 ILMN_Human_1M_rs28695769 2007.08.29 2007.08.29 2005.05.24 2011.09.09 137 KRIBB_YJKIM 2517 NC_000001.10:g.24194154A>G;NG_013346.1:g.5706T>C;NM_000147.4:c.389+234T>C 119905155 28695769 KHS1910627 2009.02.05 2009.02.05 2005.05.24 2011.09.09 137 ILLUMINA 2517 NC_000001.10:g.24194154A>G;NG_013346.1:g.5706T>C;NM_000147.4:c.389+234T>C 173514554 28695769 Human1M-Duov3_B_rs28695769-128_B_R_1513936006 2009.10.03 2009.10.03 2005.05.24 2011.09.09 137 CGAP-GAI 2517 NC_000001.10:g.24194439C>T;NG_013346.1:g.5421G>A;NM_000147.4:c.338G>A;NP_000138.2:p.Arg113His 16248500 11549095 1495234 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 CORNELL 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 86250739 61996281 hCV25646781 7.30e-03 2008.01.21 2010.09.29 2008.03.24 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 341945136 61996281 ESP2500-chr1-24194450 7.30e-03 2011.03.25 2011.03.25 2008.03.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 453933207 61996281 20101123_snps_100437_chr1_24194450 7.30e-03 2011.07.20 2011.07.20 2008.03.24 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 480940313 61996281 HumanOmni2.5-4v1_D_kgp15771550-0_T_R_1837855734 7.30e-03 2012.01.31 2012.01.31 2008.03.24 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 482286383 61996281 HumanOmni2.5-4v1_B_SNP1-24067037-0_T_R_1631119276 7.30e-03 2012.02.01 2012.02.01 2008.03.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194450C>T;NG_013346.1:g.5410G>A;NM_000147.4:c.327G>A;NP_000138.2:p.Gln109= 489728367 61996281 20110521_exome_298218_chr1_24194450 7.30e-03 2012.02.15 2012.02.21 2008.03.24 2012.11.28 137 CGAP-GAI 2517 NC_000001.10:g.24194464C>T;NG_013346.1:g.5396G>A;NM_000147.4:c.313G>A;NP_000138.2:p.Asp105Asn 16248501 11549096 1495235 2003.11.18 2003.11.22 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194464C>T;NG_013346.1:g.5396G>A;NM_000147.4:c.313G>A;NP_000138.2:p.Asp105Asn 74997907 11549096 ILMN_Human_1M_rs11549096 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24194464C>T;NG_013346.1:g.5396G>A;NM_000147.4:c.313G>A;NP_000138.2:p.Asp105Asn 119686758 11549096 KHS1808271 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194464C>T;NG_013346.1:g.5396G>A;NM_000147.4:c.313G>A;NP_000138.2:p.Asp105Asn 171277829 11549096 Human1M-Duov3_B_rs11549096-120_B_R_1513956099 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194480G>A;NG_013346.1:g.5380C>T;NM_000147.4:c.297C>T;NP_000138.2:p.Pro99= 488657445 200756413 20110521_exome_5538_chr1_24194480 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24194486G>A;NG_013346.1:g.5374C>T;NM_000147.4:c.291C>T;NP_000138.2:p.Tyr97= 341945138 140858903 ESP2500-chr1-24194486 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24194497G>A;NG_013346.1:g.5363C>T;NM_000147.4:c.280C>T;NP_000138.2:p.Arg94Cys 488657447 199940255 20110521_exome_5539_chr1_24194497 1.40e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194506G>A;NG_013346.1:g.5354C>T;NM_000147.4:c.271C>T;NP_000138.2:p.Arg91Cys 488657449 202239236 20110521_exome_5540_chr1_24194506 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2517 NC_000001.10:g.24194517G>A;NG_013346.1:g.5343C>T;NM_000147.4:c.260C>T;NP_000138.2:p.Pro87Leu 341945140 138378067 ESP2500-chr1-24194517 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 OMICIA 2517 NC_000001.9:g.24067120G>A NC_000001.10:g.24194533G>A;NG_013346.1:g.5327C>T;NM_000147.4:c.244C>T;NP_000138.2:p.Gln82Ter 187504674 80358196 2009_August_001_078_FUCA1_230000_0005 germline pathogenic 2010.02.04 2013.02.08 2010.02.04 2013.02.08 137 OMIM-CURATED-RECORDS 2517 NP_000138.2:p.GLN82TER NC_000001.10:g.24194533G>A;NG_013346.1:g.5327C>T;NM_000147.4:c.244C>T;NP_000138.2:p.Gln82Ter 252841690 80358196 17251 germline pathogenic 2010.08.12 2010.08.12 2010.02.04 2013.02.08 137 NHLBI-ESP 2517 NC_000001.10:g.24194633C>T;NG_013346.1:g.5227G>A;NM_000147.4:c.144G>A;NP_000138.2:p.Pro48= 341945142 146952333 ESP2500-chr1-24194633 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 2517 NC_000001.10:g.24194665T>A;NG_013346.1:g.5195A>T;NM_000147.4:c.112A>T;NP_000138.2:p.Thr38Ser 341945144 143545485 ESP2500-chr1-24194665 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24194671G>A;NG_013346.1:g.5189C>T;NM_000147.4:c.106C>T;NP_000138.2:p.Arg36Cys 488657451 201209052 20110521_exome_5541_chr1_24194671 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 YUSUKE 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 2984398 2070956 IMS-JST006078 1.23e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 3186056 2070956 SNP000571640 1.23e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 4228414 2070956 AL590728.9_112126 1.23e-01 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 4369442 2070956 AL590728.10_112218 1.23e-01 2002.02.19 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 12993120 2070956 NT_004391.15_535095 1.23e-01 2003.10.22 2003.10.31 2001.06.15 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 13457771 2070956 chr1.NT_079488.1_1280 1.23e-01 2003.10.31 2003.11.10 2001.06.15 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 20554915 2070956 WGSA-200403-chr1.chr1.NT_079488.1_1280 1.23e-01 2004.03.18 2004.03.18 2001.06.15 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 23856305 2070956 afd3978273 1.23e-01 2004.08.20 2004.09.13 2001.06.15 2012.11.28 137 KYUGEN 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 28477322 2070956 QH06420 1.23e-01 2004.07.29 2006.11.02 2001.06.15 2012.11.28 137 APPLERA_GI 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 48410970 2070956 hCV12007470 1.23e-01 2005.11.30 2006.11.03 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 74875293 2070956 ILMN_Human_1M_rs2070956 1.23e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 77339846 2070956 Cor12156_SNV_20070510.chr1_23940054 1.23e-01 2007.10.10 2007.10.12 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 82365655 2070956 Cor18555_SNV_20070510.chr1_23940054 1.23e-01 2007.12.02 2007.12.02 2001.06.15 2012.11.28 137 BGI 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 102727928 2070956 BGI_rs2070956 1.23e-01 2008.06.04 2009.06.16 2001.06.15 2012.11.28 137 SEATTLESEQ 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 159696682 2070956 FUCA1-24067335 1.23e-01 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 160497719 2070956 HumanOmni1-Quad_v1-0_B_rs2070956-128_B_R_1513894276 1.23e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 198170969 2070956 BUSHMAN-chr1-24067334 1.23e-01 2010.03.06 2010.03.06 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 218284484 2070956 pilot_1_YRI_94167_chr1_24067335 1.23e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 230463259 2070956 pilot_1_CEU_67888_chr1_24067335 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 238170706 2070956 pilot_1_CHB+JPT_55783_chr1_24067335 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 481205541 2070956 HumanOmni1-Quad_v1-0_C_rs2070956-131_B_R_1863044037 1.23e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 489728369 2070956 20110521_exome_298219_chr1_24194748 1.23e-01 2012.02.15 2012.02.21 2001.06.15 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24194748G>C;NG_013346.1:g.5112C>G;NM_000147.4:c.29C>G;NP_000138.2:p.Pro10Arg 491289184 2070956 nonsyn_5411_chr_1_24194748 1.23e-01 2012.03.05 2012.03.05 2001.06.15 2012.11.28 137 CORNELL 2517 NC_000001.10:g.24194770C>G;NG_013346.1:g.5090G>C;NM_000147.4:c.7G>C;NP_000138.2:p.Ala3Pro 86250740 61996282 hCV25646782 8.20e-03 2008.01.21 2010.09.29 2008.03.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194770C>G;NG_013346.1:g.5090G>C;NM_000147.4:c.7G>C;NP_000138.2:p.Ala3Pro 328478226 61996282 20100804_snps_121762_chr1_24194770 8.20e-03 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24194770C>G;NG_013346.1:g.5090G>C;NM_000147.4:c.7G>C;NP_000138.2:p.Ala3Pro 491289185 61996282 nonsyn_5412_chr_1_24194770 8.20e-03 2012.03.05 2012.03.05 2008.03.24 2012.11.28 137 YUSUKE 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 2984397 2070955 IMS-JST006077 1.23e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 3186055 2070955 SNP000571639 1.23e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 3508276 2070955 AL590609.4_1305 1.23e-01 2001.09.24 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 4227976 2070955 AL590609.12_1305 1.23e-01 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 4369443 2070955 AL590728.10_112243 1.23e-01 2002.02.19 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 12993121 2070955 NT_004391.15_535120 1.23e-01 2003.10.22 2003.10.31 2001.06.15 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 13457380 2070955 chr1.NT_079488.1_1305 1.23e-01 2003.10.31 2003.11.10 2001.06.15 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 13540528 2070955 chr1.NT_079488.1_1305 1.23e-01 2003.11.05 2003.11.22 2001.06.15 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 20524928 2070955 WGSA-200403-chr1.chr1.NT_079488.1_1305 1.23e-01 2004.03.18 2004.03.18 2001.06.15 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 23856311 2070955 afd4475380 1.23e-01 2004.08.20 2004.09.13 2001.06.15 2012.11.28 137 KYUGEN 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 28477321 2070955 QH06419 1.23e-01 2004.07.29 2006.11.02 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 77528214 2070955 Cor12156_SNV_20070510.chr1_23940079 1.23e-01 2007.10.13 2007.10.13 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 83121442 2070955 Cor18555_SNV_20070510.chr1_23940079 1.23e-01 2007.12.04 2007.12.04 2001.06.15 2012.11.28 137 CORNELL 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 86239234 2070955 hCV15868073 1.23e-01 2008.01.21 2010.09.29 2001.06.15 2012.11.28 137 SEATTLESEQ 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 159696683 2070955 FUCA1-24067360 1.23e-01 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 161046582 2070955 HumanOmni1-Quad_v1-0_B_SNP1-24067360-0_B_R_1588092853 1.23e-01 2009.08.07 2009.10.05 2001.06.15 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 198170974 2070955 BUSHMAN-chr1-24067359 1.23e-01 2010.03.06 2010.03.06 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 218284485 2070955 pilot_1_YRI_94168_chr1_24067360 1.23e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 230463260 2070955 pilot_1_CEU_67889_chr1_24067360 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 238170707 2070955 pilot_1_CHB+JPT_55784_chr1_24067360 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 479421590 2070955 HumanOmni1-Quad_v1-0_C_kgp6164442-0_B_R_1820780539 1.23e-01 2012.01.30 2012.01.30 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 482286389 2070955 HumanOmni2.5-4v1_B_SNP1-24067360-0_T_F_1621591412 1.23e-01 2012.02.01 2012.02.01 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 483674140 2070955 HumanOmni2.5-4v1_D_kgp6164442-0_T_F_1820780538 1.23e-01 2012.02.02 2012.02.02 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 489728371 2070955 20110521_exome_298220_chr1_24194773 1.23e-01 2012.02.15 2012.02.21 2001.06.15 2012.11.28 137 EXOME_CHIP 2517 NC_000001.10:g.24194773G>A;NG_013346.1:g.5087C>T;NM_000147.4:c.4C>T;NP_000138.2:p.Arg2Trp 491289186 2070955 nonsyn_5413_chr_1_24194773 1.23e-01 2012.03.05 2012.03.05 2001.06.15 2012.11.28 137 GMI 2517 NC_000001.10:g.24194785C>G;NG_013346.1:g.5075G>C;NM_000147.4:c.-9G>C 154771503 79319279 GMI_SNP_132875811 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 2517 NC_000001.10:g.24194785C>G;NG_013346.1:g.5075G>C;NM_000147.4:c.-9G>C 275753975 79319279 GMI_AK_SNP_74138 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 YUSUKE 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 2984396 2070954 IMS-JST006076 1.23e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 3186054 2070954 SNP000571638 1.23e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 3510196 2070954 AL590728.5_96813 1.23e-01 2001.09.24 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 4228415 2070954 AL590728.9_112166 1.23e-01 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 4369444 2070954 AL590728.10_112258 1.23e-01 2002.02.19 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 12993410 2070954 NT_004391.15_535135 1.23e-01 2003.10.22 2003.10.31 2001.06.15 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 13453348 2070954 chr1.NT_079488.1_1320 1.23e-01 2003.10.31 2003.11.10 2001.06.15 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 20432139 2070954 WGSA-200403-chr1.chr1.NT_079488.1_1320 1.23e-01 2004.03.18 2004.03.18 2001.06.15 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 23856314 2070954 afd4342486 1.23e-01 2004.08.20 2004.09.13 2001.06.15 2012.11.28 137 KYUGEN 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 28477320 2070954 QH06418 1.23e-01 2004.07.29 2006.11.02 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 77483612 2070954 Cor12156_SNV_20070510.chr1_23940094 1.23e-01 2007.10.13 2007.10.13 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 82929394 2070954 Cor18555_SNV_20070510.chr1_23940094 1.23e-01 2007.12.03 2007.12.03 2001.06.15 2012.11.28 137 BGI 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 102727929 2070954 BGI_rs2070954 1.23e-01 2008.06.04 2009.06.16 2001.06.15 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 198170979 2070954 BUSHMAN-chr1-24067374 1.23e-01 2010.03.06 2010.03.06 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 218284486 2070954 pilot_1_YRI_94169_chr1_24067375 1.23e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 230463261 2070954 pilot_1_CEU_67890_chr1_24067375 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 238170708 2070954 pilot_1_CHB+JPT_55785_chr1_24067375 1.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194788A>G;NG_013346.1:g.5072T>C;NM_000147.4:c.-12T>C 489728373 2070954 20110521_exome_298221_chr1_24194788 1.23e-01 2012.02.15 2012.02.21 2001.06.15 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24194811C>T;NG_013346.1:g.5049G>A;NM_000147.4:c.-35G>A 198170984 111783498 BUSHMAN-chr1-24067397 2010.03.06 2010.03.06 2010.07.04 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24194820C>T;NG_013346.1:g.5040G>A;NM_000147.4:c.-44G>A 328478227 139832548 20100804_snps_121763_chr1_24194820 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24194858C>T;NG_013346.1:g.5002G>A;NM_000147.4:c.-82G>A 218284487 115766287 pilot_1_YRI_94170_chr1_24067445 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 YUSUKE 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 2984395 2070953 IMS-JST006075 1.24e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 3186053 2070953 SNP000571637 1.24e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 4227978 2070953 AL590609.12_1394 1.24e-01 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 4369326 2070953 AL590609.14_1394 1.24e-01 2002.02.19 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 12993122 2070953 NT_004391.15_535209 1.24e-01 2003.10.22 2003.10.31 2001.06.15 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 20555740 2070953 WGSA-200403-chr1.chr1.NT_079488.1_1394 1.24e-01 2004.03.18 2004.03.18 2001.06.15 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 23856319 2070953 afd4506945 1.24e-01 2004.08.20 2004.09.13 2001.06.15 2012.11.28 137 KYUGEN 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 28477319 2070953 QH06417 1.24e-01 2004.07.29 2006.11.02 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 77504711 2070953 Cor12156_SNV_20070510.chr1_23940168 1.24e-01 2007.10.13 2007.10.13 2001.06.15 2012.11.28 137 HGSV 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 83021915 2070953 Cor18555_SNV_20070510.chr1_23940168 1.24e-01 2007.12.04 2007.12.04 2001.06.15 2012.11.28 137 BGI 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 102727930 2070953 BGI_rs2070953 1.24e-01 2008.06.04 2009.06.16 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 218284488 2070953 pilot_1_YRI_94171_chr1_24067449 1.24e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 230463262 2070953 pilot_1_CEU_67891_chr1_24067449 1.24e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 238170709 2070953 pilot_1_CHB+JPT_55786_chr1_24067449 1.24e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 482286395 2070953 HumanOmni2.5-4v1_B_SNP1-24067449-0_B_R_1648294806 1.24e-01 2012.02.01 2012.02.01 2001.06.15 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24194862A>C;NG_013346.1:g.4998T>G;NM_000147.4:c.-86T>G 484215197 2070953 HumanOmni2.5-4v1_D_kgp9121829-0_B_R_1817756639 1.24e-01 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24194890G>C;NG_013346.1:g.4970C>G;NM_000147.4:c.-114C>G 453933208 185764829 20101123_snps_100438_chr1_24194890 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 2984394 2070952 IMS-JST006074 2001.05.24 2003.10.10 2001.06.15 2011.09.09 137 HGBASE 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 3186052 2070952 SNP000571636 2001.07.09 2003.10.10 2001.06.15 2011.09.09 137 SC_JCM 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 3508286 2070952 AL590609.4_1430 2001.09.24 2003.10.10 2001.06.15 2011.09.09 137 SC_JCM 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 4227980 2070952 AL590609.12_1430 2001.10.15 2003.10.10 2001.06.15 2011.09.09 137 SC_JCM 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 4369327 2070952 AL590609.14_1430 2002.02.19 2003.10.10 2001.06.15 2011.09.09 137 SC_SNP 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 12993123 2070952 NT_004391.15_535245 2003.10.22 2003.10.31 2001.06.15 2011.09.09 137 WI_SSAHASNP 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 13457386 2070952 chr1.NT_079488.1_1430 2003.10.31 2003.11.10 2001.06.15 2011.09.09 137 SSAHASNP 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 20525769 2070952 WGSA-200403-chr1.chr1.NT_079488.1_1430 2004.03.18 2004.03.18 2001.06.15 2011.09.09 137 PERLEGEN 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 23856326 2070952 afd4265921 2004.08.20 2004.09.13 2001.06.15 2011.09.09 137 KYUGEN 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 28477318 2070952 QH06416 2004.07.29 2006.11.02 2001.06.15 2011.09.09 137 HGSV 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 77521718 2070952 Cor12156_SNV_20070510.chr1_23940204 2007.10.13 2007.10.13 2001.06.15 2011.09.09 137 HGSV 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 83094800 2070952 Cor18555_SNV_20070510.chr1_23940204 2007.12.04 2007.12.04 2001.06.15 2011.09.09 137 BGI 2517 NC_000001.10:g.24194898C>A;NG_013346.1:g.4962G>T;NM_000147.4:c.-122G>T 102727931 2070952 BGI_rs2070952 2008.06.04 2009.06.16 2001.06.15 2011.09.09 137 SC_JCM 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 4227982 3003320 AL590609.12_1663 1.23e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 4369445 3003320 AL590728.10_112601 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 12993124 3003320 NT_004391.15_535478 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 13453381 3003320 chr1.NT_079488.1_1663 1.23e-01 2003.10.31 2003.11.10 2001.11.05 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 20434604 3003320 WGSA-200403-chr1.chr1.NT_079488.1_1663 1.23e-01 2004.03.18 2004.03.18 2001.11.05 2012.11.28 137 PERLEGEN 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 23856330 3003320 afd4394820 1.23e-01 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 102727932 3003320 BGI_rs3003320 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 218284490 3003320 pilot_1_YRI_94173_chr1_24067718 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 230463264 3003320 pilot_1_CEU_67893_chr1_24067718 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 238170711 3003320 pilot_1_CHB+JPT_55788_chr1_24067718 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24195131C>G;NG_013346.1:g.4729G>C;NM_000147.4:c.-355G>C 275753976 3003320 GMI_AK_SNP_74139 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195163C>G;NG_013346.1:g.4697G>C;NM_000147.4:c.-387G>C 328478229 146220393 20100804_snps_121765_chr1_24195163 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 2517 NC_000001.10:g.24195207G>A;NG_013346.1:g.4653C>T;NM_000147.4:c.-431C>T 9893046 6697825 chr1.NT_004391.15_535554 1.14e-02 2003.06.28 2008.03.31 2003.07.11 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24195207G>A;NG_013346.1:g.4653C>T;NM_000147.4:c.-431C>T 13534960 6697825 chr1.NT_079488.1_1739 1.14e-02 2003.11.05 2003.11.22 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195207G>A;NG_013346.1:g.4653C>T;NM_000147.4:c.-431C>T 218284491 6697825 pilot_1_YRI_94174_chr1_24067794 1.14e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 4228416 3003622 AL590728.9_112627 1.23e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 4369446 3003622 AL590728.10_112719 1.23e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 12993411 3003622 NT_004391.15_535596 1.23e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 13453396 3003622 chr1.NT_079488.1_1781 1.23e-01 2003.10.31 2003.11.10 2001.11.05 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 20435453 3003622 WGSA-200403-chr1.chr1.NT_079488.1_1781 1.23e-01 2004.03.18 2004.03.18 2001.11.05 2012.11.28 137 BGI 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 102727933 3003622 BGI_rs3003622 1.23e-01 2008.06.04 2009.06.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 218284492 3003622 pilot_1_YRI_94175_chr1_24067836 1.23e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 230463266 3003622 pilot_1_CEU_67895_chr1_24067836 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 238170712 3003622 pilot_1_CHB+JPT_55789_chr1_24067836 1.23e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24195249A>G;NG_013346.1:g.4611T>C;NM_000147.4:c.-473T>C 275753977 3003622 GMI_AK_SNP_74140 1.23e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 4227983 3003321 AL590609.12_1802 1.24e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 4369328 3003321 AL590609.14_1802 1.24e-01 2002.02.19 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 5726300 3003321 NT_004391.12_1802 1.24e-01 2003.01.11 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 12993412 3003321 NT_004391.15_535617 1.24e-01 2003.10.22 2003.10.31 2001.11.05 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 13504750 3003321 chr1.NT_079488.1_1802 1.24e-01 2003.10.31 2003.11.07 2001.11.05 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 20528971 3003321 WGSA-200403-chr1.chr1.NT_079488.1_1802 1.24e-01 2004.03.18 2004.03.18 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 218284493 3003321 pilot_1_YRI_94176_chr1_24067857 1.24e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 230463267 3003321 pilot_1_CEU_67896_chr1_24067857 1.24e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 238170713 3003321 pilot_1_CHB+JPT_55790_chr1_24067857 1.24e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 2517 NC_000001.10:g.24195270G>A;NG_013346.1:g.4590C>T;NM_000147.4:c.-494C>T 275753978 3003321 GMI_AK_SNP_74141 1.24e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195322C>T;NG_013346.1:g.4538G>A;NM_000147.4:c.-546G>A 218284494 114046973 pilot_1_YRI_94177_chr1_24067909 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24195322C>T;NG_013346.1:g.4538G>A;NM_000147.4:c.-546G>A 480784878 114046973 HumanOmni2.5-4v1_D_kgp15184124-0_T_R_1835714206 7.30e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24195322C>T;NG_013346.1:g.4538G>A;NM_000147.4:c.-546G>A 482286413 114046973 HumanOmni2.5-4v1_B_SNP1-24067909-0_T_R_1631001088 7.30e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195471G>C;NG_013346.1:g.4389C>G;NM_000147.4:c.-695C>G 453933209 189933341 20101123_snps_100439_chr1_24195471 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 9823658 6664030 chr1.NT_004391.15_535870 1.24e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 12993413 6664030 NT_004391.15_535870 1.24e-01 2003.10.22 2003.10.31 2003.07.11 2012.11.28 137 KYUGEN 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 28477217 6664030 QH06415 1.24e-01 2004.07.29 2005.04.14 2003.07.11 2012.11.28 137 ABI 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 41338299 6664030 hCV30407760 1.24e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 78068439 6664030 Cor12878_SNV_20070510.chr1_23940829 1.24e-01 2007.10.17 2007.10.17 2003.07.11 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 81169643 6664030 Cor18555_SNV_20070510.chr1_23940829 1.24e-01 2007.11.28 2007.11.28 2003.07.11 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 81204617 6664030 Cor18507_SNV_20070510.chr1_23940829 1.24e-01 2007.11.28 2007.11.28 2003.07.11 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 87300930 6664030 JWB-0024124 1.24e-01 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 97925587 6664030 1103675047351 1.24e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 102727934 6664030 BGI_rs6664030 1.24e-01 2008.06.04 2009.06.16 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 108064093 6664030 CEU.trio.12.15.2008_31654_chr1_24068110 1.24e-01 2008.12.15 2008.12.15 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 110185993 6664030 NA19240_2008_12_16_30355_chr1_24068110 1.24e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 118564211 6664030 NA18507_000029341_NCBI36.1_chr1_24068110 1.24e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 137846100 6664030 ENSSNP11504806 1.24e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 142786202 6664030 ENSSNP3856920 1.24e-01 2009.06.05 2009.10.19 2003.07.11 2012.11.28 137 GMI 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 154771513 6664030 GMI_SNP_37373763 1.24e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 163184808 6664030 NA19240_36_chr1_24068110 1.24e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 163981180 6664030 NA07022_36_chr1_24068110 1.24e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 166243009 6664030 NA20431_36_chr1_24068110 1.24e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 198170989 6664030 BUSHMAN-chr1-24068109 1.24e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 205096641 6664030 BCM_CMT_1011-28760 1.24e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 218284495 6664030 pilot_1_YRI_94178_chr1_24068110 1.24e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 230463268 6664030 pilot_1_CEU_67897_chr1_24068110 1.24e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 238170714 6664030 pilot_1_CHB+JPT_55791_chr1_24068110 1.24e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 252985567 6664030 SNP30665_1_24068110 1.24e-01 2010.08.18 2010.08.18 2003.07.11 2012.11.28 137 GMI 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 275753979 6664030 GMI_AK_SNP_74142 1.24e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 2517 NC_000001.10:g.24195523A>G;NG_013346.1:g.4337T>C;NM_000147.4:c.-747T>C 290786589 6664030 SNP_292947_chr1_24068110 1.24e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195552A>G;NG_013346.1:g.4308T>C;NM_000147.4:c.-776T>C 328478230 139257030 20100804_snps_121766_chr1_24195552 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195571G>A;NG_013346.1:g.4289C>T;NM_000147.4:c.-795C>T 166243019 111460077 NA20431_36_chr1_24068158 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 GMI 2517 NC_000001.10:g.24195578G>A;NG_013346.1:g.4282C>T;NM_000147.4:c.-802C>T 275753980 200053565 GMI_AK_SNP_74143 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_JCM 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 3510195 2503003 AL590728.5_95935 1.26e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 5723599 2503003 NT_004391.12_2198 1.26e-01 2003.01.11 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 9819137 2503003 chr1.NT_004391.15_536013 1.26e-01 2003.06.28 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 12993125 2503003 NT_004391.15_536013 1.26e-01 2003.10.22 2003.10.31 2001.09.28 2012.11.28 137 ABI 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 41179877 2503003 hCV16248887 1.26e-01 2005.07.17 2005.07.17 2001.09.28 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 78128579 2503003 Cor12878_SNV_20070510.chr1_23940972 1.26e-01 2007.10.18 2007.10.18 2001.09.28 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 81266365 2503003 Cor18507_SNV_20070510.chr1_23940972 1.26e-01 2007.11.28 2007.11.28 2001.09.28 2012.11.28 137 HGSV 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 81802746 2503003 Cor18555_SNV_20070510.chr1_23940972 1.26e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 87300936 2503003 JWB-0024125 1.26e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 97925588 2503003 1103675047352 1.26e-01 2008.03.30 2008.03.30 2001.09.28 2012.11.28 137 BGI 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 102727935 2503003 BGI_rs2503003 1.26e-01 2008.06.04 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 108064097 2503003 CEU.trio.12.15.2008_31655_chr1_24068253 1.26e-01 2008.12.15 2008.12.15 2001.09.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 110186001 2503003 NA19240_2008_12_16_30356_chr1_24068253 1.26e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 118564215 2503003 NA18507_000029342_NCBI36.1_chr1_24068253 1.26e-01 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 137846103 2503003 ENSSNP6864305 1.26e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 143516899 2503003 ENSSNP5247838 1.26e-01 2009.06.06 2009.10.17 2001.09.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 154771521 2503003 GMI_SNP_35964377 1.26e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 163184815 2503003 NA19240_36_chr1_24068253 1.26e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 163981191 2503003 NA07022_36_chr1_24068253 1.26e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 166243261 2503003 NA20431_36_chr1_24068253 1.26e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 198170994 2503003 BUSHMAN-chr1-24068252 1.26e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 205170758 2503003 BCM_CMT_1011-65543 1.26e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 218284496 2503003 pilot_1_YRI_94179_chr1_24068253 1.26e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 230463269 2503003 pilot_1_CEU_67898_chr1_24068253 1.26e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 238170715 2503003 pilot_1_CHB+JPT_55792_chr1_24068253 1.26e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 252985571 2503003 SNP30666_1_24068253 1.26e-01 2010.08.18 2010.08.18 2001.09.28 2012.11.28 137 GMI 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 275753981 2503003 GMI_AK_SNP_74144 1.26e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 2517 NC_000001.10:g.24195666C>G;NG_013346.1:g.4194G>C;NM_000147.4:c.-890G>C 290786590 2503003 SNP_292948_chr1_24068253 1.26e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 BGI 2517 NC_000001.10:g.24195703A>T;NG_013346.1:g.4157T>A;NM_000147.4:c.-927T>A 102727936 77065417 BGI_YHSNP0131738 2008.06.04 2009.06.16 2009.12.01 2011.07.08 137 BL 2517 NC_000001.10:g.24195713A>G;NG_013346.1:g.4147T>C;NM_000147.4:c.-937T>C 252985574 79861897 SNP30667_1_24068300 variation has been flagged as failed by submitter 2010.08.18 2010.08.18 2009.12.01 2011.07.08 137 BL 2517 NC_000001.10:g.24195717A>G;NG_013346.1:g.4143T>C;NM_000147.4:c.-941T>C 252985579 75683124 SNP30668_1_24068304 variation has been flagged as failed by submitter 2010.08.18 2010.08.18 2009.12.01 2011.10.06 137 DEVINE_LAB 2517 NC_000001.10:g.24195718_24195719insAAGGAAGGAAGGAAGG;NG_013346.1:g.4141_4142insCCTTCCTTCCTTCCTT;NM_000147.4:c.-943_-942insCCTTCCTTCCTTCCTT 101222933 72127217 INDEL_GP36_2008a_1798991_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195719_24195720insAGGA;NG_013346.1:g.4140_4141insTCCT;NM_000147.4:c.-944_-943insTCCT 99909779 71793432 INDEL_GP36_2007a_947050_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195720_24195721insGGAAGGAA;NG_013346.1:g.4139_4140insTTCCTTCC;NM_000147.4:c.-945_-944insTTCCTTCC 99582858 67108510 INDEL_GP36_2007a_894669_0 2008.05.05 2008.05.05 2009.02.05 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195720_24195721insGGAAGGAA;NG_013346.1:g.4139_4140insTTCCTTCC;NM_000147.4:c.-945_-944insTTCCTTCC 100343356 67108510 INDEL_GP36_2008a_894669_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195734delA;NG_013346.1:g.4126delT;NM_000147.4:c.-958delT 100048372 67713743 INDEL_GP36_2008a_1684044_0 2008.05.16 2008.05.16 2009.02.06 2012.05.11 137 DEVINE_LAB 2517 NC_000001.10:g.24195734delA;NG_013346.1:g.4126delT;NM_000147.4:c.-958delT 100048373 67713743 INDEL_GP36_2008a_1684044_1 2008.05.16 2008.05.16 2009.02.06 2012.05.11 137 DEVINE_LAB 2517 NC_000001.10:g.24195734delA;NG_013346.1:g.4126delT;NM_000147.4:c.-958delT 100048378 67713743 INDEL_GP36_2008a_1684044_2 2008.05.16 2008.05.16 2009.02.06 2012.05.11 137 BL 2517 NC_000001.10:g.24195734delA;NG_013346.1:g.4126delT;NM_000147.4:c.-958delT 255904747 67713743 SNP2452_1_24068320 2010.08.20 2010.08.20 2009.02.06 2012.05.11 137 1000GENOMES 2517 NC_000001.10:g.24195727_24195728insAGGAAGG;NG_013346.1:g.4132_4133insCCTTCCT;NM_000147.4:c.-952_-951insCCTTCCT 326015315 150950180 JPTCHB_chr1_24068321_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24195727_24195728insAGGAAGG;NG_013346.1:g.4132_4133insCCTTCCT;NM_000147.4:c.-952_-951insCCTTCCT 326015343 150950180 CEU_chr1_24068321_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24195727_24195728insAGGAAGG;NG_013346.1:g.4132_4133insCCTTCCT;NM_000147.4:c.-952_-951insCCTTCCT 326019633 150950180 YRI_chr1_24068321_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 DEVINE_LAB 2517 NC_000001.10:g.24195736_24195737insGGA;NG_013346.1:g.4123_4124insTCC;NM_000147.4:c.-961_-960insTCC 99341328 66483322 INDEL_GP36_2007a_894670_0 2008.05.05 2008.05.05 2009.02.03 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195736_24195737insGGA;NG_013346.1:g.4123_4124insTCC;NM_000147.4:c.-961_-960insTCC 100353634 66483322 INDEL_GP36_2008a_894670_1 2008.05.16 2008.05.16 2009.02.03 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195739_24195741delAGG;NG_013346.1:g.4119_4121delCCT;NM_000147.4:c.-965_-963delCCT 101017080 72087827 INDEL_GP36_2008a_2932522_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 HGSV 2517 NC_000001.10:g.24195742_24195743insA;NC_000001.10:g.24195742_24195743insAGGAAGGAGGAAGGA;NG_013346.1:g.4117_4118insT;NG_013346.1:g.4117_4118insTCCTTCCTCCTTCCT;NM_000147.4:c.-967_-966insT;NM_000147.4:c.-967_-966insTCCTTCCTCCTTCCT 79898156 57493080 Cor18507_DIV_20070510.chr1_23941048-23941049_1 2007.11.24 2007.11.24 2007.12.14 2012.05.16 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24195742_24195743insA;NC_000001.10:g.24195742_24195743insAGGAAGGAGGAAGGA;NG_013346.1:g.4117_4118insT;NG_013346.1:g.4117_4118insTCCTTCCTCCTTCCT;NM_000147.4:c.-967_-966insT;NM_000147.4:c.-967_-966insTCCTTCCTCCTTCCT 95223997 57493080 1104685613175 2008.03.21 2008.12.02 2007.12.14 2012.05.16 137 SSAHASNP 2517 NC_000001.10:g.24195743G>A;NG_013346.1:g.4117C>T;NM_000147.4:c.-967C>T 35298454 28541960 TA-079.chr1_23941049 variation has been flagged as failed by submitter 2005.03.11 2005.05.24 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195743_24195744insAGGAGGAAGGA;NG_013346.1:g.4116_4117insTCCTTCCTCCT;NM_000147.4:c.-968_-967insTCCTTCCTCCT 99553090 71726888 INDEL_GP36_2007a_938743_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 BL 2517 NC_000001.10:g.24195743G>A;NG_013346.1:g.4117C>T;NM_000147.4:c.-967C>T 252985583 28541960 SNP30669_1_24068330 variation has been flagged as failed by submitter 2010.08.18 2010.08.18 2005.05.24 2011.07.08 137 SSAHASNP 2517 NC_000001.10:g.24195745A>G;NG_013346.1:g.4115T>C;NM_000147.4:c.-969T>C 35084934 28378447 TA-079.chr1_23941051 2005.03.11 2005.03.15 2005.05.24 2012.11.28 137 BL 2517 NC_000001.10:g.24195745A>G;NG_013346.1:g.4115T>C;NM_000147.4:c.-969T>C 252985587 28378447 SNP30670_1_24068332 2010.08.18 2010.08.18 2005.05.24 2012.11.28 137 GMI 2517 NC_000001.10:g.24195745A>G;NG_013346.1:g.4115T>C;NM_000147.4:c.-969T>C 275753982 28378447 GMI_AK_SNP_74145 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24195749_24195750insGGA;NG_013346.1:g.4110_4111insTCC;NM_000147.4:c.-974_-973insTCC 103797374 80189900 JWB-4157428 2008.06.07 2009.05.12 2009.12.01 2011.07.08 137 HGSV 2517 NC_000001.10:g.24195753_24195754insGGAAGGAGGA;NG_013346.1:g.4106_4107insTCCTCCTTCC;NM_000147.4:c.-978_-977insTCCTCCTTCC 79898159 60218658 Cor18507_DIV_20070510.chr1_23941059-23941060_1 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195753delA;NG_013346.1:g.4107delT;NM_000147.4:c.-977delT 101338035 67831442 INDEL_GP36_2008a_2699901_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195753delA;NG_013346.1:g.4107delT;NM_000147.4:c.-977delT 101338038 67831442 INDEL_GP36_2008a_2699901_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 SSAHASNP 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 35341833 28595294 TA-079.chr1_23941061 3.09e-01 2005.03.11 2005.05.24 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 87300941 28595294 JWB-0024126 3.09e-01 2008.02.26 2008.02.26 2005.05.24 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 97925589 28595294 1103675047355 3.09e-01 2008.03.30 2008.03.30 2005.05.24 2012.11.28 137 BGI 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 102727937 28595294 BGI_rs28595294 3.09e-01 2008.06.04 2009.06.16 2005.05.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 108064103 28595294 CEU.trio.12.15.2008_31656_chr1_24068342 3.09e-01 2008.12.15 2008.12.15 2005.05.24 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 118564218 28595294 NA18507_000029343_NCBI36.1_chr1_24068342 3.09e-01 2009.01.21 2009.01.21 2005.05.24 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 137846107 28595294 ENSSNP11504808 3.09e-01 2009.05.16 2009.05.16 2005.05.24 2012.11.28 137 GMI 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 154771529 28595294 GMI_SNP_71865341 3.09e-01 2009.06.24 2009.06.24 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 163184821 28595294 NA19240_36_chr1_24068342 3.09e-01 2009.09.29 2009.09.29 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 163981200 28595294 NA07022_36_chr1_24068342 3.09e-01 2009.09.29 2009.09.29 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 166243276 28595294 NA20431_36_chr1_24068342 3.09e-01 2009.09.30 2009.09.30 2005.05.24 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 198171000 28595294 BUSHMAN-chr1-24068341 3.09e-01 2010.03.06 2010.03.06 2005.05.24 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 205508725 28595294 BCM_CMT_1011-233170 3.09e-01 2010.03.16 2010.03.16 2005.05.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 210487764 28595294 YRI.trio.3.2010_13320_chr1_24068342 3.09e-01 2010.03.29 2010.03.29 2005.05.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 218284499 28595294 pilot_1_YRI_94182_chr1_24068342 3.09e-01 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 230463272 28595294 pilot_1_CEU_67901_chr1_24068342 3.09e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 238170716 28595294 pilot_1_CHB+JPT_55793_chr1_24068342 3.09e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 BL 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 252985591 28595294 SNP30671_1_24068342 3.09e-01 2010.08.18 2010.08.18 2005.05.24 2012.11.28 137 GMI 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 275753983 28595294 GMI_AK_SNP_74146 3.09e-01 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 PJP 2517 NC_000001.10:g.24195755G>A;NG_013346.1:g.4105C>T;NM_000147.4:c.-979C>T 290786591 28595294 SNP_292949_chr1_24068342 3.09e-01 2011.01.21 2011.01.21 2005.05.24 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24195758_24195759insAGAA;NG_013346.1:g.4101_4102insTTCT;NM_000147.4:c.-983_-982insTTCT 103797376 78552318 JWB-4157429 2008.06.07 2009.05.12 2009.12.01 2011.07.08 137 HGSV 2517 NC_000001.10:g.24195761_24195762insAAGAAGGA;NG_013346.1:g.4098_4099insTCCTTCTT;NM_000147.4:c.-986_-985insTCCTTCTT 79898162 61029501 Cor18507_DIV_20070510.chr1_23941067-23941068_1 2007.11.24 2007.11.24 2007.12.16 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195767_24195768insGAAGGAAAGAAGGAGGAAG;NG_013346.1:g.4092_4093insCTTCCTCCTTCTTTCCTTC;NM_000147.4:c.-992_-991insCTTCCTCCTTCTTTCCTTC 100053730 67396036 INDEL_GP36_2008a_2699902_0 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 2517 NC_000001.10:g.24195767_24195768insGAAGGAAAGAAGGAGGAAG;NG_013346.1:g.4092_4093insCTTCCTCCTTCTTTCCTTC;NM_000147.4:c.-992_-991insCTTCCTCCTTCTTTCCTTC 100053732 67396036 INDEL_GP36_2008a_2699902_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 1000GENOMES 2517 NC_000001.10:g.24196037G>T;NG_013346.1:g.3823C>A;NM_000147.4:c.-1261C>A 328478231 149933856 20100804_snps_121767_chr1_24196037 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24196107G>A;NG_013346.1:g.3753C>T;NM_000147.4:c.-1331C>T 453933210 182545104 20101123_snps_100440_chr1_24196107 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 2517 NC_000001.10:g.24196125C>T;NG_013346.1:g.3735G>A;NM_000147.4:c.-1349G>A 35202739 28457240 TA-079.chr1_23941431 2005.03.11 2005.05.24 2011.09.09 137 ABI 2517 NC_000001.10:g.24196125C>T;NG_013346.1:g.3735G>A;NM_000147.4:c.-1349G>A 41088946 28457240 hCV33555402 2005.07.17 2005.07.17 2005.05.24 2011.09.09 137 ENSEMBL 2517 NC_000001.10:g.24196125C>T;NG_013346.1:g.3735G>A;NM_000147.4:c.-1349G>A 161236170 28457240 ENSSNP189009 2009.09.24 2010.03.07 2005.05.24 2011.09.09 137 PJP 2517 NC_000001.10:g.24196177_24196178insAAA;NG_013346.1:g.3682_3683insTTT;NM_000147.4:c.-1402_-1401insTTT 294570192 145533838 DIP_7896_chr1_24068782 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 ABI 2517 NC_000001.10:g.24196197_24196198insAAA;NC_000001.10:g.24196197_24196198insG;NG_013346.1:g.3662_3663insC;NG_013346.1:g.3662_3663insTTT;NM_000147.4:c.-1422_-1421insC;NM_000147.4:c.-1422_-1421insTTT 41321930 35325250 hCV33555403 2005.07.17 2005.07.17 2006.03.15 2012.05.16 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24196197_24196198insAAA;NC_000001.10:g.24196197_24196198insG;NG_013346.1:g.3662_3663insC;NG_013346.1:g.3662_3663insTTT;NM_000147.4:c.-1422_-1421insC;NM_000147.4:c.-1422_-1421insTTT 95223998 35325250 1104685613176 2008.03.21 2008.12.02 2006.03.15 2012.05.16 137 DEVINE_LAB 2517 NC_000001.10:g.24196198_24196199insAAG;NG_013346.1:g.3661_3662insCTT;NM_000147.4:c.-1423_-1422insCTT 101693353 72266182 INDEL_GP36_2008a_1587012_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 GMI 2517 NC_000001.10:g.24196198G>A;NG_013346.1:g.3662C>T;NM_000147.4:c.-1422C>T 275753984 201218849 GMI_AK_SNP_74147 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ILLUMINA 2517 NC_000001.10:g.24196204G>A;NG_013346.1:g.3656C>T;NM_000147.4:c.-1428C>T 482286436 200613331 HumanOmni2.5-4v1_B_SNP1-24068791-0_B_R_1650102666 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196204G>A;NG_013346.1:g.3656C>T;NM_000147.4:c.-1428C>T 482720279 200613331 HumanOmni2.5-4v1_D_kgp22772645-0_B_R_1860518125 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196305G>A;NG_013346.1:g.3555C>T;NM_000147.4:c.-1529C>T 453933211 185640116 20101123_snps_100441_chr1_24196305 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2517 NC_000001.10:g.24196340G>A;NG_013346.1:g.3520C>T;NM_000147.4:c.-1564C>T 453933212 190434979 20101123_snps_100442_chr1_24196340 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 4369447 3123554 AL590728.10_113871 3.63e-01 2002.02.19 2003.10.10 2002.03.26 2012.11.28 137 SC_SNP 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 12993414 3123554 NT_004391.15_536748 3.63e-01 2003.10.22 2003.10.31 2002.03.26 2012.11.28 137 WUGSC_SSAHASNP 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 14529263 3123554 chr1.NT_079488.1_2933 3.63e-01 2003.11.07 2008.03.31 2002.03.26 2012.11.28 137 SSAHASNP 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 20555948 3123554 WGSA-200403-chr1.chr1.NT_079488.1_2933 3.63e-01 2004.03.18 2004.03.18 2002.03.26 2012.11.28 137 ABI 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 39688938 3123554 hCV27460449 3.63e-01 2005.07.16 2005.07.17 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 74992585 3123554 ILMN_Human_1M_rs3123554 3.63e-01 2007.08.29 2007.08.29 2002.03.26 2012.11.28 137 AFFY 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 76711595 3123554 AFFY_6_1M_SNP_A-8572936 3.63e-01 2007.08.30 2007.08.30 2002.03.26 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 87300944 3123554 JWB-0024127 3.63e-01 2008.02.26 2008.02.26 2002.03.26 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 99194340 3123554 1103675047356 3.63e-01 2008.04.03 2008.04.03 2002.03.26 2012.11.28 137 BGI 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 102727938 3123554 BGI_rs3123554 3.63e-01 2008.06.04 2009.06.16 2002.03.26 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 108064107 3123554 CEU.trio.12.15.2008_31657_chr1_24068988 3.63e-01 2008.12.15 2008.12.15 2002.03.26 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 110186008 3123554 NA19240_2008_12_16_30357_chr1_24068988 3.63e-01 2008.12.17 2008.12.17 2002.03.26 2012.11.28 137 ILLUMINA-UK 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 118564222 3123554 NA18507_000029344_NCBI36.1_chr1_24068988 3.63e-01 2009.01.21 2009.01.21 2002.03.26 2012.11.28 137 KRIBB_YJKIM 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 119454902 3123554 KHS1617149 3.63e-01 2009.02.04 2009.02.04 2002.03.26 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 137846109 3123554 ENSSNP11504809 3.63e-01 2009.05.16 2009.05.16 2002.03.26 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 139012261 3123554 ENSSNP189015 3.63e-01 2009.05.18 2009.10.16 2002.03.26 2012.11.28 137 GMI 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 154771537 3123554 GMI_SNP_118713253 3.63e-01 2009.06.24 2009.06.24 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 160612301 3123554 HumanOmni1-Quad_v1-0_B_rs3123554-128_B_R_1513973552 3.63e-01 2009.08.06 2009.10.04 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 163184829 3123554 NA19240_36_chr1_24068988 3.63e-01 2009.09.29 2009.09.29 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 163981211 3123554 NA07022_36_chr1_24068988 3.63e-01 2009.09.29 2009.09.29 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 166243288 3123554 NA20431_36_chr1_24068988 3.63e-01 2009.09.30 2009.09.30 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 173565904 3123554 Human1M-Duov3_B_rs3123554-128_B_R_1513973552 3.63e-01 2009.10.04 2009.10.04 2002.03.26 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 198171004 3123554 BUSHMAN-chr1-24068987 3.63e-01 2010.03.06 2010.03.06 2002.03.26 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 205317337 3123554 BCM_CMT_1011-138083 3.63e-01 2010.03.15 2010.03.15 2002.03.26 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 218284501 3123554 pilot_1_YRI_94184_chr1_24068988 3.63e-01 2010.04.22 2010.04.22 2002.03.26 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 230463273 3123554 pilot_1_CEU_67902_chr1_24068988 3.63e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 238170717 3123554 pilot_1_CHB+JPT_55794_chr1_24068988 3.63e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 GMI 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 275753985 3123554 GMI_AK_SNP_74148 3.63e-01 2010.12.16 2010.12.16 2002.03.26 2012.11.28 137 PJP 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 290786592 3123554 SNP_292950_chr1_24068988 3.63e-01 2011.01.21 2011.01.21 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 480757549 3123554 HumanOmni2.5-4v1_B_rs3123554-128_B_R_1731989164 3.63e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 480773342 3123554 HumanOmniExpress-12v1_C_rs3123554-131_B_R_1857418001 3.63e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 481663568 3123554 HumanOmni1-Quad_v1-0_C_rs3123554-131_B_R_1865338446 3.63e-01 2012.02.01 2012.02.01 2002.03.26 2012.11.28 137 ILLUMINA 2517 NC_000001.10:g.24196401A>G;NG_013346.1:g.3459T>C;NM_000147.4:c.-1625T>C 485173496 3123554 HumanOmni2.5-4v1_D_rs3123554-131_B_R_1857418001 3.63e-01 2012.02.04 2012.02.04 2002.03.26 2012.11.28 137 ABI 2517 NC_000001.10:g.24196572T>G;NG_013346.1:g.3288A>C;NM_000147.4:c.-1796A>C 41210265 35503930 hCV33555404 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 2517 NC_000001.10:g.24196592T>C;NG_013346.1:g.3268A>G;NM_000147.4:c.-1816A>G 83538179 61606951 Cor19240_SNV_20070510.chr1_23941898 4.40e-02 2007.12.05 2007.12.05 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196592T>C;NG_013346.1:g.3268A>G;NM_000147.4:c.-1816A>G 163184834 61606951 NA19240_36_chr1_24069179 4.40e-02 2009.09.29 2009.09.29 2007.12.16 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196592T>C;NG_013346.1:g.3268A>G;NM_000147.4:c.-1816A>G 218284502 61606951 pilot_1_YRI_94185_chr1_24069179 4.40e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24196596T>C;NG_013346.1:g.3264A>G;NM_000147.4:c.-1820A>G 198171009 111388580 BUSHMAN-chr1-24069182 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2517 NC_000001.10:g.24196633C>T;NG_013346.1:g.3227G>A;NM_000147.4:c.-1857G>A 453933213 183401818 20101123_snps_100443_chr1_24196633 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 5669345 4285654 NT_004391.12_3215 4.03e-01 2003.01.10 2003.10.10 2003.02.20 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 7866558 4285654 DB_1_133162 4.03e-01 2003.03.16 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 11357884 4285654 chr1.NT_004391.15_537030 4.03e-01 2003.07.03 2003.10.10 2003.02.20 2012.11.28 137 ABI 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 41275609 4285654 hCV33555405 4.03e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HGSV 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 83086815 4285654 Cor19240_SNV_20070510.chr1_23941989 4.03e-01 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 87300948 4285654 JWB-0024128 4.03e-01 2008.02.26 2008.02.26 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 99194341 4285654 1103675047358 4.03e-01 2008.04.03 2008.04.03 2003.02.20 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 137846112 4285654 ENSSNP6364905 4.03e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 154771545 4285654 GMI_SNP_100527627 4.03e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 163184840 4285654 NA19240_36_chr1_24069270 4.03e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 163981220 4285654 NA07022_36_chr1_24069270 4.03e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 166243298 4285654 NA20431_36_chr1_24069270 4.03e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 198171014 4285654 BUSHMAN-chr1-24069269 4.03e-01 2010.03.06 2010.03.06 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 205429822 4285654 BCM_CMT_1011-193906 4.03e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 275753986 4285654 GMI_AK_SNP_74149 4.03e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 290786593 4285654 SNP_292951_chr1_24069270 4.03e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196683C>T;NG_013346.1:g.3177G>A;NM_000147.4:c.-1907G>A 328478232 4285654 20100804_snps_121768_chr1_24196683 4.03e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196741C>T;NG_013346.1:g.3119G>A;NM_000147.4:c.-1965G>A 328478233 149110682 20100804_snps_121769_chr1_24196741 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 6029508 4483353 NT_004391.12_3325 3.88e-01 2003.01.12 2003.10.10 2003.02.20 2012.11.28 137 DEVINE_LAB 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 7866559 4483353 DB_1_133163 3.88e-01 2003.03.16 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 11431825 4483353 chr1.NT_004391.15_537140 3.88e-01 2003.07.03 2003.10.10 2003.02.20 2012.11.28 137 HGSV 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 81897122 4483353 Cor19240_SNV_20070510.chr1_23942099 3.88e-01 2007.12.01 2007.12.01 2003.02.20 2012.11.28 137 BCMHGSC_JDW 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 87300954 4483353 JWB-0024129 3.88e-01 2008.02.26 2008.02.26 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 99194342 4483353 1103675047357 3.88e-01 2008.04.03 2008.04.03 2003.02.20 2012.11.28 137 ENSEMBL 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 137846115 4483353 ENSSNP6433907 3.88e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 154771553 4483353 GMI_SNP_149656045 3.88e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 163184848 4483353 NA19240_36_chr1_24069380 3.88e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 163981230 4483353 NA07022_36_chr1_24069380 3.88e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 166243361 4483353 NA20431_36_chr1_24069380 3.88e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 198171019 4483353 BUSHMAN-chr1-24069379 3.88e-01 2010.03.06 2010.03.06 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 205404798 4483353 BCM_CMT_1011-181369 3.88e-01 2010.03.15 2010.03.15 2003.02.20 2012.11.28 137 BL 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 252985595 4483353 SNP30672_1_24069380 3.88e-01 2010.08.18 2010.08.18 2003.02.20 2012.11.28 137 GMI 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 275753987 4483353 GMI_AK_SNP_74150 3.88e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 290786594 4483353 SNP_292952_chr1_24069380 3.88e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196793G>A;NG_013346.1:g.3067C>T;NM_000147.4:c.-2017C>T 328478234 4483353 20100804_snps_121770_chr1_24196793 3.88e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 2517 NC_000001.10:g.24196835C>T;NG_013346.1:g.3025G>A;NM_000147.4:c.-2059G>A 453933214 188696778 20101123_snps_100444_chr1_24196835 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 # Report date: 2013.2.9, Gene: FUCA1 (2517), ss count: 1272, rs count: 462.