# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 356 326135853 145693244 YRI_chr1_170892823_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3016G>C;NT_004487.19:g.24114842G>C 454470464 112375045 20101123_snps_637694_chr1_172626200 1.05e-02 2011.07.20 2011.07.20 2010.07.04 2011.10.06 132 BUSHMAN 356 NG_007269.1:g.3016G>C;NT_004487.19:g.24114842G>C 199249763 112375045 BUSHMAN-chr1-170892822 1.05e-02 2010.03.06 2010.03.06 2010.07.04 2011.10.06 132 ABI 356 NG_007269.1:g.3028delG;NT_004487.19:g.24114854delG 41255054 35338996 hCV33322911 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 356 454470465 187635609 20101123_snps_637695_chr1_172626232 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 329031580 141483311 20100804_snps_675116_chr1_172626352 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 108704696 2859248 CEU.trio.12.15.2008_187962_chr1_170893003 5.12e-02 2008.12.16 2008.12.16 2001.09.28 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 111348378 2859248 NA19240_2008_12_16_172408_chr1_170893003 5.12e-02 2008.12.17 2008.12.17 2001.09.28 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 218719952 2859248 pilot_1_YRI_529635_chr1_170893003 5.12e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 230783379 2859248 pilot_1_CEU_388008_chr1_170893003 5.12e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 238420239 2859248 pilot_1_CHB+JPT_305316_chr1_170893003 5.12e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 BCM-HGSC-SUB 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 205111370 2859248 BCM_CMT_1011-35620 5.12e-02 2010.03.15 2010.03.15 2001.09.28 2011.09.09 132 BCMHGSC_JDW 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 87870412 2859248 JWB-0145823 5.12e-02 2008.02.26 2008.02.26 2001.09.28 2011.09.09 132 BGI 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 106611345 2859248 BGI_rs2859248 5.12e-02 2008.09.17 2009.06.16 2001.09.28 2011.09.09 132 BL 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 253606632 2859248 SNP161361_1_170893003 5.12e-02 2010.08.18 2010.08.18 2001.09.28 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 199249769 2859248 BUSHMAN-chr1-170893002 5.12e-02 2010.03.06 2010.03.06 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 164430163 2859248 NA19240_36_chr1_170893003 5.12e-02 2009.09.29 2009.09.29 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 165440771 2859248 NA07022_36_chr1_170893003 5.12e-02 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 167284238 2859248 NA20431_36_chr1_170893003 5.12e-02 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 CSHL-HAPMAP 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 16416802 2859248 CSHL-HuAA-200402.chr1.NT_004487.16_1674872 5.12e-02 2004.02.17 2004.03.04 2001.09.28 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 138104926 2859248 ENSSNP11656155 5.12e-02 2009.05.17 2009.05.17 2001.09.28 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 139166684 2859248 ENSSNP94711 5.12e-02 2009.05.18 2009.10.16 2001.09.28 2011.09.09 132 GMI 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 155928453 2859248 GMI_SNP_35970871 5.12e-02 2009.06.24 2009.06.24 2001.09.28 2011.09.09 132 HGSV 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 80131149 2859248 Cor18507_SNV_20070510.chr1_169358037 5.12e-02 2007.11.24 2007.11.24 2001.09.28 2011.09.09 132 HGSV 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 83344637 2859248 Cor18555_SNV_20070510.chr1_169358037 5.12e-02 2007.12.04 2007.12.04 2001.09.28 2011.09.09 132 HGSV 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 83656773 2859248 Cor18956_SNV_20070510.chr1_169358037 5.12e-02 2007.12.05 2007.12.05 2001.09.28 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 97984025 2859248 1103675262346 5.12e-02 2008.03.30 2008.03.30 2001.09.28 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 119091990 2859248 NA18507_000170774_NCBI36.1_chr1_170893003 5.12e-02 2009.01.22 2009.01.22 2001.09.28 2011.09.09 132 PJP 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 290664475 2859248 SNP_170833_chr1_170893003 5.12e-02 2011.01.21 2011.01.21 2001.09.28 2011.09.09 132 SC_JCM 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 4048016 2859248 Z96050.1_74990 5.12e-02 2001.09.26 2003.10.10 2001.09.28 2011.09.09 132 SSAHASNP 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 20551854 2859248 WGSA-200403-chr1.chr1.NT_004487.16_1674872 5.12e-02 2004.03.18 2004.03.18 2001.09.28 2011.09.09 132 WI_SSAHASNP 356 NG_007269.1:g.3196A>G;NT_004487.19:g.24115022A>G 13608183 2859248 chr1.NT_004487.16_1674872 5.12e-02 2003.11.05 2003.11.22 2001.09.28 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3206C>T;NT_004487.19:g.24115032C>T 218719953 41309788 pilot_1_YRI_529636_chr1_170893013 1.74e-02 2010.04.22 2010.04.22 2006.10.18 2011.07.08 132 FHCRC 356 NG_007269.1:g.3206C>T;NT_004487.19:g.24115032C>T 65624610 41309788 050806_46 1.74e-02 2006.08.10 2006.08.10 2006.10.18 2011.07.08 132 1000GENOMES 356 NG_007269.1:g.3281T>C;NT_004487.19:g.24115107T>C 218719954 16844867 pilot_1_YRI_529637_chr1_170893088 2.74e-02 2010.04.22 2010.04.22 2004.09.20 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.3281T>C;NT_004487.19:g.24115107T>C 119091992 16844867 NA18507_000170775_NCBI36.1_chr1_170893088 2.74e-02 2009.01.22 2009.01.22 2004.09.20 2011.09.09 132 PERLEGEN 356 NG_007269.1:g.3281T>C;NT_004487.19:g.24115107T>C 23687504 16844867 afd0662242 2.74e-02 2004.08.20 2004.09.13 2004.09.20 2011.09.09 132 1000GENOMES 356 454470466 191710117 20101123_snps_637696_chr1_172626556 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 108704701 35954549 CEU.trio.12.15.2008_187963_chr1_170893229 9.10e-02 2008.12.16 2008.12.16 2006.03.15 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 218719955 35954549 pilot_1_YRI_529638_chr1_170893229 9.10e-02 2010.04.22 2010.04.22 2006.03.15 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 230783380 35954549 pilot_1_CEU_388009_chr1_170893229 9.10e-02 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 238420240 35954549 pilot_1_CHB+JPT_305317_chr1_170893229 9.10e-02 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 ABI 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 41211764 35954549 hCV11339459 9.10e-02 2005.07.17 2005.07.17 2006.03.15 2011.09.09 132 HGSV 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 83998686 35954549 Cor18555_SNV_20070510.chr1_169358263 9.10e-02 2007.12.06 2007.12.06 2006.03.15 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 99262164 35954549 1103675262334 9.10e-02 2008.04.03 2008.04.03 2006.03.15 2011.09.09 132 PJP 356 NG_007269.1:g.3422A>G;NT_004487.19:g.24115248A>G 290664476 35954549 SNP_170834_chr1_170893229 9.10e-02 2011.01.21 2011.01.21 2006.03.15 2011.09.09 132 1000GENOMES 356 326135858 145083042 YRI_chr1_170893285_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 132 DEVINE_LAB 356 NG_007269.1:g.3479_3485del7;NT_004487.19:g.24115305_24115311del7 99698501 71750740 INDEL_GP36_2007a_894282_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 356 NG_007269.1:g.3479C>A;NT_004487.19:g.24115305C>A 99262165 71637448 1103675262335 2008.04.03 2008.04.03 2009.02.13 2011.09.09 132 BCM-HGSC-SUB 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 205508963 9787393 BCM_CMT_1011-233291 2010.03.16 2010.03.16 2003.12.05 2011.09.09 132 BCMHGSC_JDW 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 87870414 9787393 JWB-0145824 2008.02.26 2008.02.26 2003.12.05 2011.09.09 132 BL 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 253606637 9787393 SNP161362_1_170893287 2010.08.18 2010.08.18 2003.12.05 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 199249773 9787393 BUSHMAN-chr1-170893286 2010.03.06 2010.03.06 2003.12.05 2011.09.09 132 HGSV 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 77800115 9787393 Cor12156_SNV_20070510.chr1_169358321 2007.10.14 2007.10.14 2003.12.05 2011.09.09 132 HGSV 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 86149002 9787393 Cor18956_SNV_20070510.chr1_169358321 2007.12.11 2007.12.11 2003.12.05 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 119091994 9787393 NA18507_000170776_NCBI36.1_chr1_170893287 2009.01.22 2009.01.22 2003.12.05 2011.09.09 132 WI_SSAHASNP 356 NG_007269.1:g.3480T>A;NT_004487.19:g.24115306T>A 13608320 9787393 chr1.NT_004487.16_1675156 2003.11.05 2003.11.22 2003.12.05 2011.09.09 132 HGSV 356 NG_007269.1:g.3482C>A;NT_004487.19:g.24115308C>A 77596341 55642113 Cor12156_SNV_20070510.chr1_169358323 2007.10.13 2007.10.13 2007.12.06 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.3482C>A;NT_004487.19:g.24115308C>A 99262166 55642113 1103675262336 2008.04.03 2008.04.03 2007.12.06 2011.09.09 132 BCM-HGSC-SUB 356 NG_007269.1:g.3483C>A;NT_004487.19:g.24115309C>A 205542256 9787248 BCM_CMT_1011-250100 2010.03.16 2010.03.16 2003.12.05 2011.09.09 132 BL 356 NG_007269.1:g.3483C>A;NT_004487.19:g.24115309C>A 253606642 9787248 SNP161363_1_170893290 2010.08.18 2010.08.18 2003.12.05 2011.09.09 132 HGSV 356 NG_007269.1:g.3483C>A;NT_004487.19:g.24115309C>A 85987373 9787248 Cor18956_SNV_20070510.chr1_169358324 2007.12.10 2007.12.10 2003.12.05 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.3483C>A;NT_004487.19:g.24115309C>A 119091996 9787248 NA18507_000170777_NCBI36.1_chr1_170893290 2009.01.22 2009.01.22 2003.12.05 2011.09.09 132 WI_SSAHASNP 356 NG_007269.1:g.3483C>A;NT_004487.19:g.24115309C>A 13607989 9787248 chr1.NT_004487.16_1675159 2003.11.05 2003.11.22 2003.12.05 2011.09.09 132 BCM-HGSC-SUB 356 NG_007269.1:g.3490A>G;NT_004487.19:g.24115316A>G 205548142 112035536 BCM_CMT_1011-253078 2010.03.16 2010.03.16 2010.07.04 2011.07.08 132 HGSV 356 83066378 60114287 Cor19240_DIV_20070510.chr1_169358319-169358333_1 2007.12.04 2007.12.04 2007.12.15 2011.07.08 132 PJP 356 294610994 148433168 DIP_48698_chr1_170893311 2011.01.21 2011.01.21 2011.05.09 2011.07.08 132 DEVINE_LAB 356 NG_007269.1:g.3505_3506ins3;NT_004487.19:g.24115331_24115332ins3 101284696 72197266 INDEL_GP36_2008a_2631925_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 132 HGSV 356 NG_007269.1:g.3506_3507ins3;NT_004487.19:g.24115332_24115333ins3 82033608 58113397 Cor18555_DIV_20070510.chr1_169358347-169358348_1 2007.12.02 2007.12.02 2007.12.15 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.3506_3507ins3;NT_004487.19:g.24115332_24115333ins3 98578372 58113397 1103675262337 2008.04.01 2008.04.01 2007.12.15 2011.09.09 132 ABI 356 NG_007269.1:g.3507_3508insA;NT_004487.19:g.24115333_24115334insA 41128467 36027307 hCV33322913 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 356 454470467 184262994 20101123_snps_637697_chr1_172626722 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470468 188161915 20101123_snps_637698_chr1_172626874 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 329031581 150699112 20100804_snps_675117_chr1_172626892 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.3784G>A;NT_004487.19:g.24115610G>A 75216621 12080307 ILMN_Human_1M_rs12080307 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.3784G>A;NT_004487.19:g.24115610G>A 160031804 12080307 HumanOmni1-Quad_v1-0_B_rs12080307-128_B_R_1514165368 2009.08.05 2009.10.01 2004.02.28 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.3784G>A;NT_004487.19:g.24115610G>A 171840806 12080307 Human1M-Duov3_B_rs12080307-128_B_R_1514165368 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 356 NG_007269.1:g.3784G>A;NT_004487.19:g.24115610G>A 119748345 12080307 KHS1831549 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 SC_SNP 356 NG_007269.1:g.3784G>A;NT_004487.19:g.24115610G>A 18179718 12080307 SC-CHR1_NA17109-200402.chr1.NT_004487.16_1675460 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 ABI 356 NG_007269.1:g.3862_3863insT;NT_004487.19:g.24115688_24115689insT 41065942 35477082 hCV33322914 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 ABI 356 NG_007269.1:g.3888_3889insA;NT_004487.19:g.24115714_24115715insA 41347930 35020039 hCV33322915 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 356 454470469 192369679 20101123_snps_637699_chr1_172627080 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NG_007269.1:g.3943A>T;NT_004487.19:g.24115769A>T 454470470 111378518 20101123_snps_637700_chr1_172627127 5.48e-03 2011.07.20 2011.07.20 2010.07.04 2011.10.06 132 BCM-HGSC-SUB 356 NG_007269.1:g.3943A>T;NT_004487.19:g.24115769A>T 205479079 111378518 BCM_CMT_1011-218631 5.48e-03 2010.03.16 2010.03.16 2010.07.04 2011.10.06 132 1000GENOMES 356 NG_007269.1:g.3953T>C;NT_004487.19:g.24115779T>C 230783381 77427795 pilot_1_CEU_388010_chr1_170893760 5.21e-02 2010.05.01 2010.05.01 2009.12.01 2011.10.06 132 MPI_MOLGEN 356 NG_007269.1:g.3953T>C;NT_004487.19:g.24115779T>C 469114635 77427795 Chromosome1_170893760 5.21e-02 2011.08.15 2011.08.15 2009.12.01 2011.10.06 132 1000GENOMES 356 NG_007269.1:g.4029A>C;NT_004487.19:g.24115855A>C 210671782 113526183 YRI.trio.3.2010_75984_chr1_170893836 1.19e-02 2010.03.29 2010.03.29 2010.07.04 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4029A>C;NT_004487.19:g.24115855A>C 329031582 113526183 20100804_snps_675118_chr1_172627213 1.19e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 COMPLETE_GENOMICS 356 NG_007269.1:g.4029A>C;NT_004487.19:g.24115855A>C 164430177 113526183 NA19240_36_chr1_170893836 1.19e-02 2009.09.29 2009.09.29 2010.07.04 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 210467122 749154 CEU.trio.3.2010_8468_chr1_170893842 1.09e-01 2010.03.29 2010.03.29 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 218719956 749154 pilot_1_YRI_529639_chr1_170893842 1.09e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 230783382 749154 pilot_1_CEU_388011_chr1_170893842 1.09e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 238420241 749154 pilot_1_CHB+JPT_305318_chr1_170893842 1.09e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 41176918 749154 hCV3175439 1.09e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 139166681 749154 ENSSNP94712 1.09e-01 2009.05.18 2009.10.16 2000.10.05 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 99262167 749154 1103675262332 1.09e-01 2008.04.03 2008.04.03 2000.10.05 2011.09.09 132 PJP 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 290664477 749154 SNP_170835_chr1_170893842 1.09e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 TSC-CSHL 356 NG_007269.1:g.4035T>C;NT_004487.19:g.24115861T>C 100388 749154 TSC0130953 1.09e-01 2000.09.06 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 218719957 749155 pilot_1_YRI_529640_chr1_170893879 1.08e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 230783383 749155 pilot_1_CEU_388012_chr1_170893879 1.08e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 238420242 749155 pilot_1_CHB+JPT_305319_chr1_170893879 1.08e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 41142684 749155 hCV3175438 1.08e-01 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 139166678 749155 ENSSNP94713 1.08e-01 2009.05.18 2009.10.16 2000.10.05 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 99262168 749155 1103675262333 1.08e-01 2008.04.03 2008.04.03 2000.10.05 2011.09.09 132 PJP 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 290664478 749155 SNP_170836_chr1_170893879 1.08e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 TSC-CSHL 356 NG_007269.1:g.4072C>A;NT_004487.19:g.24115898C>A 100389 749155 TSC0130954 1.08e-01 2000.09.06 2003.10.10 2000.10.05 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.4089A>C;NT_004487.19:g.24115915A>C 138104927 74809048 ENSSNP11656156 2009.05.17 2009.05.17 2009.12.01 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4123_4124insT;NT_004487.19:g.24115949_24115950insT 326135860 11385743 YRI_chr1_170893930_indel 2011.03.11 2011.04.02 2004.02.28 2011.10.06 132 BUSHMAN 356 NG_007269.1:g.4123_4124insT;NT_004487.19:g.24115949_24115950insT 193136031 11385743 BUSHMAN-chr1-170893930-170893930 2010.02.16 2010.02.16 2004.02.28 2011.10.06 132 DEVINE_LAB 356 NG_007269.1:g.4123_4124insT;NT_004487.19:g.24115949_24115950insT 15269072 11385743 INDEL_GP34_WGS_406900 2003.11.13 2003.11.22 2004.02.28 2011.10.06 132 DEVINE_LAB 356 NG_007269.1:g.4124_4125insT;NT_004487.19:g.24115950_24115951insT 101079909 67111913 INDEL_GP36_2008a_462504_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 132 DEVINE_LAB 356 NG_007269.1:g.4124_4125insT;NT_004487.19:g.24115950_24115951insT 101079912 67111913 INDEL_GP36_2008a_462504_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 132 BUSHMAN 356 NG_007269.1:g.4180C>A;NT_004487.19:g.24116006C>A 199249777 112059230 BUSHMAN-chr1-170893986 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 356 454470471 190337378 20101123_snps_637701_chr1_172627392 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 108704710 763110 CEU.trio.12.15.2008_187965_chr1_170894121 4.32e-01 pathogenic 2008.12.16 2008.12.16 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 111348386 763110 NA19240_2008_12_16_172409_chr1_170894121 4.32e-01 pathogenic 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 218719959 763110 pilot_1_YRI_529642_chr1_170894121 4.32e-01 pathogenic 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 230783384 763110 pilot_1_CEU_388013_chr1_170894121 4.32e-01 pathogenic 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 238420243 763110 pilot_1_CHB+JPT_305320_chr1_170894121 4.32e-01 pathogenic 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 41145977 763110 hCV3175437 4.32e-01 pathogenic 2005.07.17 2005.07.17 2000.10.05 2011.09.09 132 AFFY 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 76615704 763110 AFFY_6_1M_SNP_A-8476732 4.32e-01 pathogenic 2007.08.30 2007.08.30 2000.10.05 2011.09.09 132 BCM_SSAHASNP 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 9851616 763110 chr1.NT_004487.15_1481056 4.32e-01 pathogenic 2003.06.28 2007.08.14 2000.10.05 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 199249781 763110 BUSHMAN-chr1-170894120 4.32e-01 pathogenic 2010.03.06 2010.03.06 2000.10.05 2011.09.09 132 CGM_KYOTO 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 76867850 763110 9234 4.32e-01 pathogenic 2007.09.12 2007.09.12 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 164430191 763110 NA19240_36_chr1_170894121 4.32e-01 pathogenic 2009.09.29 2009.09.29 2000.10.05 2011.09.09 132 ENSEMBL 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 139166675 763110 ENSSNP94714 4.32e-01 pathogenic 2009.05.18 2009.10.16 2000.10.05 2011.09.09 132 GENEREVIEWS 356 NM_000639.1:c.-844T>C NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 187602422 763110 NM_000639.1:c.-844T>C 4.32e-01 pathogenic 2010.02.04 2010.02.04 2000.10.05 2011.09.09 132 HGSV 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 83738412 763110 Cor18956_SNV_20070510.chr1_169359155 4.32e-01 pathogenic 2007.12.05 2007.12.05 2000.10.05 2011.09.09 132 HUMANGENOME_JCVI 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 99262169 763110 1103675262331 4.32e-01 pathogenic 2008.04.03 2008.04.03 2000.10.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 65753514 763110 Human1-rs763110 4.32e-01 pathogenic 2006.10.10 2006.10.10 2000.10.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 74880092 763110 ILMN_Human_1M_rs763110 4.32e-01 pathogenic 2007.08.29 2007.08.29 2000.10.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 160897510 763110 HumanOmni1-Quad_v1-0_B_rs763110-128_T_R_1513911484 4.32e-01 pathogenic 2009.08.07 2009.10.05 2000.10.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 174462570 763110 Human1M-Duov3_B_rs763110-128_T_R_1513911484 4.32e-01 pathogenic 2009.10.04 2009.10.04 2000.10.05 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 119091999 763110 NA18507_000170778_NCBI36.1_chr1_170894121 4.32e-01 pathogenic 2009.01.22 2009.01.22 2000.10.05 2011.09.09 132 KRIBB_YJKIM 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 119367072 763110 KHS1529319 4.32e-01 pathogenic 2009.02.04 2009.02.04 2000.10.05 2011.09.09 132 PJP 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 290664479 763110 SNP_170837_chr1_170894121 4.32e-01 pathogenic 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 SC_JCM 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 3718810 763110 AC025032.11_100809 4.32e-01 pathogenic 2001.09.25 2003.10.10 2000.10.05 2011.09.09 132 SSAHASNP 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 20484094 763110 WGSA-200403-chr1.chr1.NT_004487.16_1675990 4.32e-01 pathogenic 2004.03.18 2004.03.18 2000.10.05 2011.09.09 132 TSC-CSHL 356 NG_007269.1:g.4314T>C;NT_004487.19:g.24116140C>T 137201 763110 TSC0118227 4.32e-01 pathogenic 2000.09.06 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 356 329031583 149848384 20100804_snps_675119_chr1_172627562 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 218719960 2021837 pilot_1_YRI_529643_chr1_170894209 4.84e-02 2010.04.22 2010.04.22 2001.04.12 2011.09.09 132 BCM_SSAHASNP 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 9877289 2021837 chr1.NT_004487.15_1481144 4.84e-02 2003.06.28 2003.10.10 2001.04.12 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 199249785 2021837 BUSHMAN-chr1-170894208 4.84e-02 2010.03.06 2010.03.06 2001.04.12 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 119092001 2021837 NA18507_000170779_NCBI36.1_chr1_170894209 4.84e-02 2009.01.22 2009.01.22 2001.04.12 2011.09.09 132 SC_JCM 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 4249852 2021837 Z96050.1_76196 4.84e-02 2001.10.15 2003.10.10 2001.04.12 2011.09.09 132 TSC-CSHL 356 NG_007269.1:g.4402A>G;NT_004487.19:g.24116228A>G 2925376 2021837 TSC0877732 4.84e-02 2001.01.26 2003.10.10 2001.04.12 2011.09.09 132 CNGFU 356 NG_007269.1:g.4461A>C;NT_004487.19:g.24116287A>C 20399349 12720438 12101 2004.02.24 2004.03.04 2004.04.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4461A>C;NT_004487.19:g.24116287A>C 75181332 12720438 ILMN_Human_1M_rs12720438 2007.08.29 2007.08.29 2004.04.05 2011.09.09 132 ILLUMINA 356 NG_007269.1:g.4461A>C;NT_004487.19:g.24116287A>C 172232537 12720438 Human1M-Duov3_B_rs12720438-128_B_R_1514130141 2009.10.02 2009.10.02 2004.04.05 2011.09.09 132 KRIBB_YJKIM 356 NG_007269.1:g.4461A>C;NT_004487.19:g.24116287A>C 119808381 12720438 KHS1854087 2009.02.05 2009.02.05 2004.04.05 2011.09.09 132 1000GENOMES 356 329031584 144801567 20100804_snps_675120_chr1_172627646 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 356 NG_007269.1:g.4622_4623insT;NT_004487.19:g.24116448_24116449insT 41093388 34906459 hCV33322916 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 356 NG_007269.1:g.4680A>T;NT_004487.19:g.24116506A>T 108704714 41309790 CEU.trio.12.15.2008_187966_chr1_170894487 6.31e-02 2008.12.16 2008.12.16 2006.10.18 2011.07.08 132 1000GENOMES 356 NG_007269.1:g.4680A>T;NT_004487.19:g.24116506A>T 230783385 41309790 pilot_1_CEU_388014_chr1_170894487 6.31e-02 2010.05.01 2010.05.01 2006.10.18 2011.07.08 132 CGM_KYOTO 356 NG_007269.1:g.4680A>T;NT_004487.19:g.24116506A>T 76867851 41309790 9235 6.31e-02 2007.09.12 2007.09.12 2006.10.18 2011.07.08 132 FHCRC 356 NG_007269.1:g.4680A>T;NT_004487.19:g.24116506A>T 65624611 41309790 050806_49 6.31e-02 2006.08.10 2006.08.10 2006.10.18 2011.07.08 132 PCRHEPLAB 356 NG_007269.1:g.4680A>T;NT_004487.19:g.24116506A>T 99306862 41309790 FSL-321 6.31e-02 2008.04.16 2008.04.16 2006.10.18 2011.07.08 132 1000GENOMES 356 NT_004487.19:g.24116757G>C 210671785 116247734 YRI.trio.3.2010_75985_chr1_170894738 7.77e-03 2010.03.29 2010.03.29 2010.07.14 2011.09.09 132 1000GENOMES 356 NT_004487.19:g.24116757G>C 218719961 116247734 pilot_1_YRI_529644_chr1_170894738 7.77e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.4953C>G;NT_004487.19:g.24116779C>G 218719962 74124371 pilot_1_YRI_529645_chr1_170894760 4.52e-02 2010.04.22 2010.04.22 2009.02.15 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.4953C>G;NT_004487.19:g.24116779C>G 199249789 74124371 BUSHMAN-chr1-170894759 4.52e-02 2010.03.06 2010.03.06 2009.02.15 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.4953C>G;NT_004487.19:g.24116779C>G 119092004 74124371 NA18507_000170780_NCBI36.1_chr1_170894760 4.52e-02 2009.01.22 2009.01.22 2009.02.15 2011.09.09 132 CGM_KYOTO 356 NG_007269.1:g.4979_4982del4;NT_004487.19:g.24116805_24116808del4 76869946 55853758 12421 2007.09.12 2007.09.12 2007.12.06 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.-136G>A;NG_007269.1:g.5022G>A;NM_000639.1:c.-136G>A;NT_004487.19:g.24116848G>A 329031585 55804267 20100804_snps_675121_chr1_172628206 4.57e-04 2011.03.22 2011.03.22 2007.12.06 2011.10.06 132 CGM_KYOTO 356 NM_000639.1:c.-136G>A;NG_007269.1:g.5022G>A;NM_000639.1:c.-136G>A;NT_004487.19:g.24116848G>A 76867852 55804267 9236 4.57e-04 2007.09.12 2007.09.12 2007.12.06 2011.10.06 132 ABI 356 NM_000639.1:c.63_64insG;NG_007269.1:g.5220_5221insG;NM_000639.1:c.63_64insG;NT_004487.19:g.24117046_24117047insG 41144935 34969210 hCV33322917 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 356 454470472 182516315 20101123_snps_637702_chr1_172628413 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 356 342011650 140595317 ESP2500-chr1-172628449 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011651 145731782 ESP2500-chr1-172628450 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011653 149563384 ESP2500-chr1-172628454 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 BL 356 253606647 149769121 SNP161364_1_170895102 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 BL 356 253606652 142147680 SNP161365_1_170895105 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 BL 356 NM_000639.1:c.144A>G;NG_007269.1:g.5301A>G;NM_000639.1:c.144A>G;NT_004487.19:g.24117127A>G 253606657 55664927 SNP161366_1_170895108 2010.08.18 2010.08.18 2007.12.06 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.144A>G;NG_007269.1:g.5301A>G;NM_000639.1:c.144A>G;NT_004487.19:g.24117127A>G 76867853 55664927 9237 2007.09.12 2007.09.12 2007.12.06 2011.09.09 132 NHLBI-ESP 356 342011656 141591346 ESP2500-chr1-172628486 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 218719963 61756244 pilot_1_YRI_529646_chr1_170895111 4.52e-02 2010.04.22 2010.04.22 2008.03.23 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 199249796 61756244 BUSHMAN-chr1-170895110 4.52e-02 2010.03.06 2010.03.06 2008.03.23 2011.07.08 132 CANCER-GENOME 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 86350610 61756244 20462 4.52e-02 2008.01.25 2008.01.25 2008.03.23 2011.07.08 132 CORNELL 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 86241484 61756244 hCV22271877 4.52e-02 2008.01.21 2010.09.29 2008.03.23 2011.07.08 132 NHLBI-ESP 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 342011658 61756244 ESP2500-chr1-172628488 4.52e-02 2011.03.25 2011.03.25 2008.03.23 2011.07.08 132 SEATTLESEQ 356 NM_000639.1:c.147G>A;NG_007269.1:g.5304G>A;NM_000639.1:c.147G>A;NT_004487.19:g.24117130G>A 159699699 61756244 FASLG-170895111 4.52e-02 2009.07.10 2009.07.10 2008.03.23 2011.07.08 132 BL 356 253606662 146135122 SNP161367_1_170895114 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 JKLEE 356 NM_000639.1:c.152C>T;NG_007269.1:g.5309C>T;NP_000630.1:p.Pro51Leu;NM_000639.1:c.152C>T;NT_004487.19:g.24117135C>T;NP_000630.1:p.Pro51Leu 86217623 61761322 JKLEE_FASL_N1 2007.12.13 2007.12.13 2008.03.23 2011.07.08 132 NHLBI-ESP 356 342011660 147380045 ESP2500-chr1-172628494 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011662 149883274 ESP2500-chr1-172628511 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011663 145066304 ESP2500-chr1-172628512 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011665 143516344 ESP2500-chr1-172628518 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.280T>G;NG_007269.1:g.5437T>G;NP_000630.1:p.Leu94Val;NM_000639.1:c.280T>G;NT_004487.19:g.24117263T>G;NP_000630.1:p.Leu94Val 329031586 56302117 20100804_snps_675122_chr1_172628621 2.29e-03 2011.03.22 2011.03.22 2007.12.07 2011.07.08 132 CGM_KYOTO 356 NM_000639.1:c.280T>G;NG_007269.1:g.5437T>G;NP_000630.1:p.Leu94Val;NM_000639.1:c.280T>G;NT_004487.19:g.24117263T>G;NP_000630.1:p.Leu94Val 76869947 56302117 12422 2.29e-03 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 NHLBI-ESP 356 NM_000639.1:c.280T>G;NG_007269.1:g.5437T>G;NP_000630.1:p.Leu94Val;NM_000639.1:c.280T>G;NT_004487.19:g.24117263T>G;NP_000630.1:p.Leu94Val 342011669 56302117 ESP2500-chr1-172628621 2.29e-03 2011.03.25 2011.03.25 2007.12.07 2011.07.08 132 CGM_KYOTO 356 NM_000639.1:c.348+43A>G;NG_007269.1:g.5548A>G;NM_000639.1:c.348+43A>G;NT_004487.19:g.24117374A>G 76867854 55889136 9238 2007.09.12 2007.09.12 2007.12.06 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.348+93delT;NG_007269.1:g.5598delT;NM_000639.1:c.348+93delT;NT_004487.19:g.24117424delT 193136033 111351940 BUSHMAN-chr1-170895404-170895405 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 1000GENOMES 356 454470473 185771803 20101123_snps_637703_chr1_172628792 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BCMHGSC_JDW 356 NM_000639.1:c.348+104_348+105del2;NG_007269.1:g.5609_5610del2;NM_000639.1:c.348+104_348+105del2;NT_004487.19:g.24117435_24117436del2 103493315 79818565 JWB-4008645 2008.06.06 2009.05.11 2009.12.01 2011.07.08 132 1000GENOMES 356 454470474 189019911 20101123_snps_637704_chr1_172628851 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 329031587 147680913 20100804_snps_675123_chr1_172628887 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 111348394 12720439 NA19240_2008_12_16_172410_chr1_170895520 6.03e-02 2008.12.17 2008.12.17 2004.04.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 218719964 12720439 pilot_1_YRI_529647_chr1_170895520 6.03e-02 2010.04.22 2010.04.22 2004.04.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 230783388 12720439 pilot_1_CEU_388017_chr1_170895520 6.03e-02 2010.05.01 2010.05.01 2004.04.05 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 76867855 12720439 9239 6.03e-02 2007.09.12 2007.09.12 2004.04.05 2011.09.09 132 CNGFU 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 20399350 12720439 12106 6.03e-02 2004.02.24 2008.03.31 2004.04.05 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.348+208A>G;NG_007269.1:g.5713A>G;NM_000639.1:c.348+208A>G;NT_004487.19:g.24117539A>G 164430202 12720439 NA19240_36_chr1_170895520 6.03e-02 2009.09.29 2009.09.29 2004.04.05 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.348+265C>T;NG_007269.1:g.5770C>T;NM_000639.1:c.348+265C>T;NT_004487.19:g.24117596C>T 199249803 113728263 BUSHMAN-chr1-170895576 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.349-228G>A;NG_007269.1:g.5823G>A;NM_000639.1:c.349-228G>A;NT_004487.19:g.24117649G>A 76867856 56347310 9240 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.349-167A>C;NT_004487.19:g.24117710A>C 210671788 114673102 YRI.trio.3.2010_75986_chr1_170895691 8.68e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.349-167A>C;NT_004487.19:g.24117710A>C 329031588 114673102 20100804_snps_675124_chr1_172629068 8.68e-03 2011.03.22 2011.03.22 2010.07.14 2011.10.06 132 1000GENOMES 356 329031589 142254412 20100804_snps_675125_chr1_172629130 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 329031590 151243922 20100804_snps_675126_chr1_172629167 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 329031591 140406512 20100804_snps_675127_chr1_172629250 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011671 140406512 ESP2500-chr1-172629250 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.376T>C;NG_007269.1:g.6078T>C;NP_000630.1:p.Ser126Pro;NM_000639.1:c.376T>C;NT_004487.19:g.24117904T>C;NP_000630.1:p.Ser126Pro 454470475 75622480 20101123_snps_637705_chr1_172629262 4.57e-04 2011.07.20 2011.07.20 2009.12.01 2011.10.06 132 ILLUMINA 356 NM_000639.1:c.376T>C;NG_007269.1:g.6078T>C;NP_000630.1:p.Ser126Pro;NM_000639.1:c.376T>C;NT_004487.19:g.24117904T>C;NP_000630.1:p.Ser126Pro 161042899 75622480 HumanOmni1-Quad_v1-0_B_SNP1-170895885-128_T_R_1587492866 4.57e-04 2009.08.07 2009.10.05 2009.12.01 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.394+104A>G;NG_007269.1:g.6200A>G;NM_000639.1:c.394+104A>G;NT_004487.19:g.24118026A>G 238420245 74575026 pilot_1_CHB+JPT_305322_chr1_170896007 1.78e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 CGM_KYOTO 356 NM_000639.1:c.394+141G>A;NG_007269.1:g.6237G>A;NM_000639.1:c.394+141G>A;NT_004487.19:g.24118063G>A 76867857 56369692 9241 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 1000GENOMES 356 329031592 150374759 20100804_snps_675128_chr1_172629427 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 454470476 185507642 20101123_snps_637706_chr1_172629490 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 356 NM_000639.1:c.394+211C>T;NG_007269.1:g.6307C>T;NM_000639.1:c.394+211C>T;NT_004487.19:g.24118133C>T 199249807 113202417 BUSHMAN-chr1-170896113 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 356 454470477 190845059 20101123_snps_637707_chr1_172629543 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 329031593 138067784 20100804_snps_675129_chr1_172629584 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 454470478 182562581 20101123_snps_637708_chr1_172629712 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.394+436A>G;NG_007269.1:g.6532A>G;NM_000639.1:c.394+436A>G;NT_004487.19:g.24118358A>G 218719965 78296468 pilot_1_YRI_529648_chr1_170896339 5.62e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.394+436A>G;NG_007269.1:g.6532A>G;NM_000639.1:c.394+436A>G;NT_004487.19:g.24118358A>G 230783389 78296468 pilot_1_CEU_388018_chr1_170896339 5.62e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.394+483G>C;NG_007269.1:g.6579G>C;NM_000639.1:c.394+483G>C;NT_004487.19:g.24118405G>C 199249813 111235738 BUSHMAN-chr1-170896385 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+523G>T;NT_004487.19:g.24118445G>T 210671791 114462335 YRI.trio.3.2010_75987_chr1_170896426 8.68e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.394+523G>T;NT_004487.19:g.24118445G>T 329031594 114462335 20100804_snps_675130_chr1_172629803 8.68e-03 2011.03.22 2011.03.22 2010.07.14 2011.10.06 132 1000GENOMES 356 329031595 144679557 20100804_snps_675131_chr1_172629809 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 329031596 138570840 20100804_snps_675132_chr1_172630273 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 329031597 141550588 20100804_snps_675133_chr1_172630342 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1066G>A;NT_004487.19:g.24118988G>A 218719966 116503792 pilot_1_YRI_529649_chr1_170896969 1.37e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 108704718 2022556 CEU.trio.12.15.2008_187967_chr1_170897077 4.61e-01 2008.12.16 2008.12.16 2001.04.12 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 111348404 2022556 NA19240_2008_12_16_172411_chr1_170897077 4.61e-01 2008.12.17 2008.12.17 2001.04.12 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 218719967 2022556 pilot_1_YRI_529650_chr1_170897077 4.61e-01 2010.04.22 2010.04.22 2001.04.12 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 230783390 2022556 pilot_1_CEU_388019_chr1_170897077 4.61e-01 2010.05.01 2010.05.01 2001.04.12 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 238420246 2022556 pilot_1_CHB+JPT_305323_chr1_170897077 4.61e-01 2010.05.01 2010.05.01 2001.04.12 2011.09.09 132 BCM_SSAHASNP 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 9903605 2022556 chr1.NT_004487.15_1484012 4.61e-01 2003.06.28 2003.10.10 2001.04.12 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 199249817 2022556 BUSHMAN-chr1-170897076 4.61e-01 2010.03.06 2010.03.06 2001.04.12 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 164430213 2022556 NA19240_36_chr1_170897077 4.61e-01 2009.09.29 2009.09.29 2001.04.12 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 165440781 2022556 NA07022_36_chr1_170897077 4.61e-01 2009.09.30 2009.09.30 2001.04.12 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 167284246 2022556 NA20431_36_chr1_170897077 4.61e-01 2009.09.30 2009.09.30 2001.04.12 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 143338092 2022556 ENSSNP5160651 4.61e-01 2009.06.06 2009.10.17 2001.04.12 2011.09.09 132 HGSV 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 77287846 2022556 Cor12156_SNV_20070510.chr1_169362111 4.61e-01 2007.10.10 2007.10.12 2001.04.12 2011.09.09 132 HGSV 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 78779140 2022556 Cor18507_SNV_20070510.chr1_169362111 4.61e-01 2007.10.20 2007.10.20 2001.04.12 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 99262170 2022556 1103675262324 4.61e-01 2008.04.03 2008.04.03 2001.04.12 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 119092006 2022556 NA18507_000170781_NCBI36.1_chr1_170897077 4.61e-01 2009.01.22 2009.01.22 2001.04.12 2011.09.09 132 KRIBB_YJKIM 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 102650351 2022556 KHS1103936 4.61e-01 2008.05.21 2008.05.21 2001.04.12 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 24631268 2022556 afd0662233 4.61e-01 2004.08.21 2004.09.13 2001.04.12 2011.09.09 132 PJP 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 290664480 2022556 SNP_170838_chr1_170897077 4.61e-01 2011.01.21 2011.01.21 2001.04.12 2011.09.09 132 SC_JCM 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 4048017 2022556 Z96050.1_79064 4.61e-01 2001.09.26 2003.10.10 2001.04.12 2011.09.09 132 SC_SNP 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 15380560 2022556 NT_004487.16_1678946 4.61e-01 2003.11.14 2003.11.22 2001.04.12 2011.09.09 132 TSC-CSHL 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 2926530 2022556 TSC1024619 4.61e-01 2001.01.26 2006.10.25 2001.04.12 2011.09.09 132 WI_SSAHASNP 356 NM_000639.1:c.394+1174T>C;NG_007269.1:g.7270T>C;NM_000639.1:c.394+1174T>C;NT_004487.19:g.24119096T>C 11429383 2022556 chr1.NT_004487.15_1484012 4.61e-01 2003.07.03 2003.10.10 2001.04.12 2011.09.09 132 1000GENOMES 356 329031598 144462254 20100804_snps_675134_chr1_172630609 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1391G>A;NT_004487.19:g.24119313G>A 230783391 115948472 pilot_1_CEU_388020_chr1_170897294 4.57e-04 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 356 454470479 186246583 20101123_snps_637709_chr1_172630773 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 108704722 6700734 CEU.trio.12.15.2008_187968_chr1_170897434 2.08e-01 2008.12.16 2008.12.16 2003.07.11 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 111348411 6700734 NA19240_2008_12_16_172412_chr1_170897434 2.08e-01 2008.12.17 2008.12.17 2003.07.11 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 218719968 6700734 pilot_1_YRI_529651_chr1_170897434 2.08e-01 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 230783392 6700734 pilot_1_CEU_388021_chr1_170897434 2.08e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 238420247 6700734 pilot_1_CHB+JPT_305324_chr1_170897434 2.08e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 AFFY 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 65981803 6700734 SNP_A-1667685 2.08e-01 2006.10.26 2006.10.26 2003.07.11 2011.09.09 132 BCM_SSAHASNP 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 9898894 6700734 chr1.NT_004487.15_1484369 2.08e-01 2003.06.28 2006.10.25 2003.07.11 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 199249821 6700734 BUSHMAN-chr1-170897433 2.08e-01 2010.03.06 2010.03.06 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 164430225 6700734 NA19240_36_chr1_170897434 2.08e-01 2009.09.29 2009.09.29 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 165440788 6700734 NA07022_36_chr1_170897434 2.08e-01 2009.09.30 2009.09.30 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 167284252 6700734 NA20431_36_chr1_170897434 2.08e-01 2009.09.30 2009.09.30 2003.07.11 2011.09.09 132 HGSV 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 80008194 6700734 Cor18507_SNV_20070510.chr1_169362468 2.08e-01 2007.11.24 2007.11.24 2003.07.11 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 160799658 6700734 HumanOmni1-Quad_v1-0_B_rs6700734-128_T_F_1561720273 2.08e-01 2009.08.07 2009.10.04 2003.07.11 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 244306075 6700734 CVDSNP55v1_A_rs6700734 2.08e-01 2010.06.10 2010.06.10 2003.07.11 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 119092009 6700734 NA18507_000170782_NCBI36.1_chr1_170897434 2.08e-01 2009.01.22 2009.01.22 2003.07.11 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 14876032 6700734 PS00662230 2.08e-01 2003.11.13 2004.04.07 2003.07.11 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 24631269 6700734 afd0662230 2.08e-01 2004.08.21 2004.09.13 2003.07.11 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 68784875 6700734 PGP00662230 2.08e-01 2007.01.30 2008.03.31 2003.07.11 2011.09.09 132 PJP 356 NM_000639.1:c.394+1531A>G;NG_007269.1:g.7627A>G;NM_000639.1:c.394+1531A>G;NT_004487.19:g.24119453A>G 290664481 6700734 SNP_170839_chr1_170897434 2.08e-01 2011.01.21 2011.01.21 2003.07.11 2011.09.09 132 SSAHASNP 356 NM_000639.1:c.394+1586T>A;NG_007269.1:g.7682T>A;NM_000639.1:c.394+1586T>A;NT_004487.19:g.24119508T>A 35430659 28649482 TA-079.chr1_169362523 2005.03.11 2005.05.24 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.394+1627T>C;NG_007269.1:g.7723T>C;NM_000639.1:c.394+1627T>C;NT_004487.19:g.24119549T>C 218719969 76237782 pilot_1_YRI_529652_chr1_170897530 2.70e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 356 454470480 191917559 20101123_snps_637710_chr1_172630923 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470481 183506270 20101123_snps_637711_chr1_172631061 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470482 187428665 20101123_snps_637712_chr1_172631105 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 356 NM_000639.1:c.394+1856_394+1857insC;NG_007269.1:g.7952_7953insC;NM_000639.1:c.394+1856_394+1857insC;NT_004487.19:g.24119778_24119779insC 41338148 35096159 hCV33322919 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 356 329031599 147975365 20100804_snps_675135_chr1_172631394 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 326100348 139184109 JPTCHB_chr1_170898063_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 356 326103941 139184109 CEU_chr1_170898063_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 356 326135864 139184109 YRI_chr1_170898063_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 132 ABI 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 41282340 35383030 hCV33322920 2005.07.17 2005.07.17 2006.03.15 2011.09.09 132 DEVINE_LAB 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 101324627 35383030 INDEL_GP36_2008a_957412_0 2008.05.17 2008.05.17 2006.03.15 2011.09.09 132 DEVINE_LAB 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 101324629 35383030 INDEL_GP36_2008a_957412_1 2008.05.17 2008.05.17 2006.03.15 2011.09.09 132 DEVINE_LAB 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 101324632 35383030 INDEL_GP36_2008a_957412_2 2008.05.17 2008.05.17 2006.03.15 2011.09.09 132 HGSV 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 80849735 35383030 Cor12878_DIV_20070510.chr1_169363097-169363099_1 2007.11.27 2007.11.27 2006.03.15 2011.09.09 132 HGSV 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 83712717 35383030 Cor18517_DIV_20070510.chr1_169363097-169363099_1 2007.12.05 2007.12.05 2006.03.15 2011.09.09 132 HGSV 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 83867341 35383030 Cor18517_DIV_20070510.chr1_169363097-169363099_2 2007.12.05 2007.12.05 2006.03.15 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 95246863 35383030 1104685262726 2008.03.21 2008.12.02 2006.03.15 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 98578373 35383030 1103675262323 2008.04.01 2008.04.01 2006.03.15 2011.09.09 132 PJP 356 NM_000639.1:c.395-2033delC;NG_007269.1:g.8257delC;NM_000639.1:c.395-2033delC;NT_004487.19:g.24120083delC 294610995 35383030 DIP_48699_chr1_170898064 2011.01.21 2011.01.21 2006.03.15 2011.09.09 132 1000GENOMES 356 329031600 141601365 20100804_snps_675136_chr1_172631453 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 218719970 9970950 pilot_1_YRI_529653_chr1_170898083 4.48e-02 2010.04.22 2010.04.22 2003.12.05 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 199249825 9970950 BUSHMAN-chr1-170898082 4.48e-02 2010.03.06 2010.03.06 2003.12.05 2011.09.09 132 HGSV 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 79038676 9970950 Cor18507_SNV_20070510.chr1_169363117 4.48e-02 2007.10.21 2007.10.21 2003.12.05 2011.09.09 132 HGSV 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 85673722 9970950 Cor18517_SNV_20070510.chr1_169363117 4.48e-02 2007.12.09 2007.12.09 2003.12.05 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 119092010 9970950 NA18507_000170783_NCBI36.1_chr1_170898083 4.48e-02 2009.01.22 2009.01.22 2003.12.05 2011.09.09 132 WUGSC_SSAHASNP 356 NM_000639.1:c.395-2014C>A;NG_007269.1:g.8276C>A;NM_000639.1:c.395-2014C>A;NT_004487.19:g.24120102C>A 13812509 9970950 chr1.NT_004487.16_1679952 4.48e-02 2003.11.05 2003.11.22 2003.12.05 2011.09.09 132 1000GENOMES 356 454470483 192228806 20101123_snps_637713_chr1_172631589 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470484 182538585 20101123_snps_637714_chr1_172631662 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470485 187194205 20101123_snps_637715_chr1_172631693 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470486 192988435 20101123_snps_637716_chr1_172631713 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470487 184248177 20101123_snps_637717_chr1_172631793 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 329031601 150902515 20100804_snps_675137_chr1_172631802 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 108704726 929087 CEU.trio.12.15.2008_187969_chr1_170898680 3.99e-01 2008.12.16 2008.12.16 2000.10.05 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 111348420 929087 NA19240_2008_12_16_172413_chr1_170898680 3.99e-01 2008.12.17 2008.12.17 2000.10.05 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 218719971 929087 pilot_1_YRI_529654_chr1_170898680 3.99e-01 2010.04.22 2010.04.22 2000.10.05 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 230783393 929087 pilot_1_CEU_388022_chr1_170898680 3.99e-01 2010.05.01 2010.05.01 2000.10.05 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 238420248 929087 pilot_1_CHB+JPT_305325_chr1_170898680 3.99e-01 2010.05.01 2010.05.01 2000.10.05 2011.07.08 132 ABI 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 44042014 929087 hCV3175435 3.99e-01 2005.07.18 2006.11.03 2000.10.05 2011.07.08 132 AFFY 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 66479268 929087 SNP_A-2289677 3.99e-01 2006.10.29 2007.08.14 2000.10.05 2011.07.08 132 AFFY 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 76293587 929087 AFFY_6_1M_SNP_A-2289677 3.99e-01 2007.08.30 2007.08.30 2000.10.05 2011.07.08 132 AFFY 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 173154839 929087 GenomeWideSNP_5_SNP_A-2289677 3.99e-01 2009.10.03 2009.10.03 2000.10.05 2011.07.08 132 BCM_SSAHASNP 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 9906553 929087 chr1.NT_004487.15_1485615 3.99e-01 2003.06.28 2003.10.10 2000.10.05 2011.07.08 132 BGI 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 102796622 929087 BGI_rs929087 3.99e-01 2008.06.04 2009.06.16 2000.10.05 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 199249829 929087 BUSHMAN-chr1-170898679 3.99e-01 2010.03.06 2010.03.06 2000.10.05 2011.07.08 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 164430243 929087 NA19240_36_chr1_170898680 3.99e-01 2009.09.29 2009.09.29 2000.10.05 2011.07.08 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 165440803 929087 NA07022_36_chr1_170898680 3.99e-01 2009.09.30 2009.09.30 2000.10.05 2011.07.08 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 167284262 929087 NA20431_36_chr1_170898680 3.99e-01 2009.09.30 2009.09.30 2000.10.05 2011.07.08 132 CSHL-HAPMAP 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 68386001 929087 sanger:assay:454131:1 3.99e-01 2007.01.11 2007.01.16 2000.10.05 2011.07.08 132 ENSEMBL 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 139166672 929087 ENSSNP94717 3.99e-01 2009.05.18 2009.10.16 2000.10.05 2011.07.08 132 HGSV 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 82945134 929087 Cor19240_SNV_20070510.chr1_169363714 3.99e-01 2007.12.04 2007.12.04 2000.10.05 2011.07.08 132 HUMANGENOME_JCVI 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 99262171 929087 1103675262353 3.99e-01 2008.04.03 2008.04.03 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 65720946 929087 Human1-rs929087 3.99e-01 2006.10.10 2006.10.10 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 67898902 929087 HumanHap550v1.1_rs929087 3.99e-01 2006.11.14 2006.11.14 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 68031989 929087 HumanHap650Yv1.0_rs929087 3.99e-01 2006.11.15 2006.11.15 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 68299794 929087 HumanHap250Sv1.0_rs929087 3.99e-01 2006.12.06 2006.12.07 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 71596646 929087 HumanHap650Yv3.0_rs929087 3.99e-01 2007.04.23 2007.04.23 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 75911139 929087 ILMN_Human_1M_rs929087 3.99e-01 2007.08.29 2007.08.29 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 98240375 929087 HumanHap550v3.0__rs929087 3.99e-01 2008.03.31 2008.03.31 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 120245755 929087 GS0006561-OPA_rs929087-119.1_T_F_1040022 3.99e-01 2009.03.17 2009.03.17 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 154483886 929087 Human610_Quadv1_B_rs929087-126_B_R_1502285629 3.99e-01 2009.06.20 2009.06.20 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 159658083 929087 Human660W-Quad_v1_A_rs929087-126_B_R_1502285629 3.99e-01 2009.07.07 2009.07.07 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 174794553 929087 Human1M-Duov3_B_rs929087-126_B_R_1502285629 3.99e-01 2009.10.05 2009.10.05 2000.10.05 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 244255476 929087 Linkage_12_rs929087 3.99e-01 2010.06.09 2010.06.09 2000.10.05 2011.07.08 132 ILLUMINA-UK 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 119092014 929087 NA18507_000170784_NCBI36.1_chr1_170898680 3.99e-01 2009.01.22 2009.01.22 2000.10.05 2011.07.08 132 KRIBB_YJKIM 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 83616930 929087 KHS502656 3.99e-01 2007.12.05 2007.12.05 2000.10.05 2011.07.08 132 PJP 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 290664482 929087 SNP_170840_chr1_170898680 3.99e-01 2011.01.21 2011.01.21 2000.10.05 2011.07.08 132 SC_JCM 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 3718891 929087 AC025032.11_96250 3.99e-01 2001.09.25 2003.10.10 2000.10.05 2011.07.08 132 SC_SNP 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 14801501 929087 NT_004487.16_1680549 3.99e-01 2003.11.12 2003.11.22 2000.10.05 2011.07.08 132 SSAHASNP 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 20567838 929087 WGSA-200403-chr1.chr1.NT_004487.16_1680549 3.99e-01 2004.03.18 2004.03.18 2000.10.05 2011.07.08 132 TSC-CSHL 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 1367270 929087 TSC0246304 3.99e-01 2000.09.06 2004.04.07 2000.10.05 2011.07.08 132 YUSUKE 356 NM_000639.1:c.395-1417A>G;NG_007269.1:g.8873A>G;NM_000639.1:c.395-1417A>G;NT_004487.19:g.24120699A>G 5007081 929087 IMS-JST181355 3.99e-01 2002.08.12 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 356 329031602 140093075 20100804_snps_675138_chr1_172632149 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-912G>C;NT_004487.19:g.24121204G>C 218719972 115072575 pilot_1_YRI_529655_chr1_170899185 4.57e-04 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 108704730 2639654 CEU.trio.12.15.2008_187970_chr1_170899226 5.67e-02 2008.12.16 2008.12.16 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 111348427 2639654 NA19240_2008_12_16_172414_chr1_170899226 5.67e-02 2008.12.17 2008.12.17 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 218719973 2639654 pilot_1_YRI_529656_chr1_170899226 5.67e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 230783394 2639654 pilot_1_CEU_388023_chr1_170899226 5.67e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 BCM-HGSC-SUB 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 205066349 2639654 BCM_CMT_1011-13955 5.67e-02 2010.03.15 2010.03.15 2001.09.28 2011.09.09 132 BCMHGSC_JDW 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 87870416 2639654 JWB-0145825 5.67e-02 2008.02.26 2008.02.26 2001.09.28 2011.09.09 132 BCM_SSAHASNP 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 9812931 2639654 chr1.NT_004487.15_1486161 5.67e-02 2003.06.27 2003.10.10 2001.09.28 2011.09.09 132 BGI 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 106611346 2639654 BGI_rs2639654 5.67e-02 2008.09.17 2009.06.16 2001.09.28 2011.09.09 132 BL 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 253606666 2639654 SNP161368_1_170899226 5.67e-02 2010.08.18 2010.08.18 2001.09.28 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 199249833 2639654 BUSHMAN-chr1-170899225 5.67e-02 2010.03.06 2010.03.06 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 164430256 2639654 NA19240_36_chr1_170899226 5.67e-02 2009.09.29 2009.09.29 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 165440811 2639654 NA07022_36_chr1_170899226 5.67e-02 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 167284270 2639654 NA20431_36_chr1_170899226 5.67e-02 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 CSHL-HAPMAP 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 19123099 2639654 CSHL-HuDD-200402.chr1.NT_004487.16_1681095 5.67e-02 2004.02.20 2006.10.26 2001.09.28 2011.09.09 132 CSHL-HAPMAP 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 19850303 2639654 CSHL-HuFF-200402.chr1.NT_004487.16_1681095 5.67e-02 2004.02.21 2004.03.04 2001.09.28 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 138104928 2639654 ENSSNP5835350 5.67e-02 2009.05.17 2009.05.17 2001.09.28 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 139166669 2639654 ENSSNP94718 5.67e-02 2009.05.18 2009.10.16 2001.09.28 2011.09.09 132 GMI 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 155928460 2639654 GMI_SNP_37585377 5.67e-02 2009.06.24 2009.06.24 2001.09.28 2011.09.09 132 HGSV 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 78066018 2639654 Cor12878_SNV_20070510.chr1_169364260 5.67e-02 2007.10.17 2007.10.17 2001.09.28 2011.09.09 132 HGSV 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 78565790 2639654 Cor18507_SNV_20070510.chr1_169364260 5.67e-02 2007.10.20 2007.10.20 2001.09.28 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 97984026 2639654 1103675262354 5.67e-02 2008.03.30 2008.03.30 2001.09.28 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 160565815 2639654 HumanOmni1-Quad_v1-0_B_rs2639654-128_T_R_1561717231 5.67e-02 2009.08.06 2009.10.03 2001.09.28 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 244291357 2639654 CVDSNP55v1_A_rs2639654 5.67e-02 2010.06.10 2010.06.10 2001.09.28 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 119092016 2639654 NA18507_000170785_NCBI36.1_chr1_170899226 5.67e-02 2009.01.22 2009.01.22 2001.09.28 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 68784876 2639654 PGP00662227 5.67e-02 2007.01.30 2007.08.14 2001.09.28 2011.09.09 132 PJP 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 290664483 2639654 SNP_170841_chr1_170899226 5.67e-02 2011.01.21 2011.01.21 2001.09.28 2011.09.09 132 SC_JCM 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 3718890 2639654 AC025032.11_95704 5.67e-02 2001.09.25 2003.10.10 2001.09.28 2011.09.09 132 SSAHASNP 356 NM_000639.1:c.395-871A>C;NG_007269.1:g.9419A>C;NM_000639.1:c.395-871A>C;NT_004487.19:g.24121245A>C 20589934 2639654 WGSA-200403-chr1.chr1.NT_004487.16_1681095 5.67e-02 2004.03.18 2004.03.18 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-723C>T;NG_007269.1:g.9567C>T;NM_000639.1:c.395-723C>T;NT_004487.19:g.24121393C>T 218719974 16844869 pilot_1_YRI_529657_chr1_170899374 3.06e-02 2010.04.22 2010.04.22 2004.09.20 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.395-723C>T;NG_007269.1:g.9567C>T;NM_000639.1:c.395-723C>T;NT_004487.19:g.24121393C>T 23687524 16844869 afd0662226 3.06e-02 2004.08.20 2004.09.13 2004.09.20 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-533G>C;NG_007269.1:g.9757G>C;NM_000639.1:c.395-533G>C;NT_004487.19:g.24121583G>C 329031603 3820654 20100804_snps_675139_chr1_172632941 1.37e-03 2011.03.22 2011.03.22 2002.08.28 2011.10.06 132 YUSUKE 356 NM_000639.1:c.395-533G>C;NG_007269.1:g.9757G>C;NM_000639.1:c.395-533G>C;NT_004487.19:g.24121583G>C 5007080 3820654 IMS-JST181354 1.37e-03 2002.08.12 2003.10.10 2002.08.28 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 218719975 17370527 pilot_1_YRI_529658_chr1_170899580 9.41e-02 2010.04.22 2010.04.22 2004.09.20 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 230783395 17370527 pilot_1_CEU_388024_chr1_170899580 9.41e-02 2010.05.01 2010.05.01 2004.09.20 2011.10.06 132 BUSHMAN 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 199249837 17370527 BUSHMAN-chr1-170899579 9.41e-02 2010.03.06 2010.03.06 2004.09.20 2011.10.06 132 ILLUMINA 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 244283550 17370527 CVDSNP55v1_A_rs17370527 9.41e-02 2010.06.10 2010.06.10 2004.09.20 2011.10.06 132 ILLUMINA 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 410913428 17370527 Cardio-Metabo_Chip_11395247_A_rs17370527 9.41e-02 2011.06.07 2011.06.07 2004.09.20 2011.10.06 132 PERLEGEN 356 NM_000639.1:c.395-517A>T;NG_007269.1:g.9773A>T;NM_000639.1:c.395-517A>T;NT_004487.19:g.24121599A>T 24631273 17370527 afd0662225 9.41e-02 2004.08.21 2004.09.13 2004.09.20 2011.10.06 132 1000GENOMES 356 454470488 189561864 20101123_snps_637718_chr1_172633073 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 108704736 5030772 CEU.trio.12.15.2008_187971_chr1_170899973 6.72e-02 2008.12.16 2008.12.16 2003.03.31 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 230783396 5030772 pilot_1_CEU_388025_chr1_170899973 6.72e-02 2010.05.01 2010.05.01 2003.03.31 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 76867722 5030772 9104 6.72e-02 2007.09.12 2007.09.12 2003.03.31 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 167284276 5030772 NA20431_36_chr1_170899973 6.72e-02 2009.09.30 2009.09.30 2003.03.31 2011.09.09 132 HGBASE 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 7985933 5030772 SNP001494068 6.72e-02 2003.03.19 2003.10.10 2003.03.31 2011.09.09 132 KRIBB_YJKIM 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 102650775 5030772 KHS1108342 6.72e-02 2008.05.21 2008.05.21 2003.03.31 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 24631276 5030772 afd0662224 6.72e-02 2004.08.21 2004.09.13 2003.03.31 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 68784877 5030772 PGP00662224 6.72e-02 2007.01.30 2008.03.31 2003.03.31 2011.09.09 132 SI_EXO 356 NM_000639.1:c.395-124A>G;NG_007269.1:g.10166A>G;NM_000639.1:c.395-124A>G;NT_004487.19:g.24121992A>G 76899848 5030772 NT_004487.18_23123704 6.72e-02 2007.09.20 2007.09.20 2003.03.31 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.395-114G>C;NT_004487.19:g.24122002G>C 230783397 115544261 pilot_1_CEU_388026_chr1_170899983 4.57e-04 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.395-83T>A;NG_007269.1:g.10207T>A;NM_000639.1:c.395-83T>A;NT_004487.19:g.24122033T>A 76867723 56168790 9105 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 NHLBI-ESP 356 342011673 143306673 ESP2500-chr1-172633481 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ABI 356 NM_000639.1:c.416delA;NG_007269.1:g.10311delA;NP_000630.1:p.Glu139fx;NM_000639.1:c.416delA;NT_004487.19:g.24122137delA;NP_000630.1:p.Glu139fx 41275340 35774809 hCV33322923 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 356 454470489 138441486 20101123_snps_637719_chr1_172633505 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 356 342011675 138441486 ESP2500-chr1-172633505 2011.03.25 2011.03.25 2011.05.09 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.451+81G>C;NT_004487.19:g.24122253G>C 238420249 56390505 pilot_1_CHB+JPT_305326_chr1_170900234 1.10e-02 2010.05.01 2010.05.01 2007.12.08 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.451+81G>C;NT_004487.19:g.24122253G>C 76869948 56390505 12423 1.10e-02 2007.09.12 2007.09.12 2007.12.08 2011.09.09 132 1000GENOMES 356 329031605 140851380 20100804_snps_675141_chr1_172633741 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 329031606 149792630 20100804_snps_675142_chr1_172633788 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+291G>A;NT_004487.19:g.24122463G>A 218719976 113997065 pilot_1_YRI_529659_chr1_170900444 1.83e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 356 329031607 145732182 20100804_snps_675143_chr1_172633882 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+360T>C;NT_004487.19:g.24122532T>C 218719977 116425373 pilot_1_YRI_529660_chr1_170900513 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 356 329031608 148926397 20100804_snps_675144_chr1_172633928 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 454470490 184760197 20101123_snps_637720_chr1_172633934 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 108704738 10458360 CEU.trio.12.15.2008_187972_chr1_170900598 4.97e-01 2008.12.16 2008.12.16 2003.12.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 111348435 10458360 NA19240_2008_12_16_172415_chr1_170900598 4.97e-01 2008.12.17 2008.12.17 2003.12.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 218719978 10458360 pilot_1_YRI_529661_chr1_170900598 4.97e-01 2010.04.22 2010.04.22 2003.12.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 230783398 10458360 pilot_1_CEU_388027_chr1_170900598 4.97e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 238420250 10458360 pilot_1_CHB+JPT_305327_chr1_170900598 4.97e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 ABI 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 44103745 10458360 hCV3175434 4.97e-01 2005.07.18 2006.11.03 2003.12.05 2011.09.09 132 AFFY 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 66168119 10458360 SNP_A-2185951 4.97e-01 2006.10.27 2008.03.31 2003.12.05 2011.09.09 132 AFFY 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 76218660 10458360 AFFY_6_1M_SNP_A-2185951 4.97e-01 2007.08.30 2007.08.30 2003.12.05 2011.09.09 132 AFFY 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 172854165 10458360 GenomeWideSNP_5_SNP_A-2185951 4.97e-01 2009.10.02 2009.10.02 2003.12.05 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 199249844 10458360 BUSHMAN-chr1-170900597 4.97e-01 2010.03.06 2010.03.06 2003.12.05 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 76867724 10458360 9106 4.97e-01 2007.09.12 2007.09.12 2003.12.05 2011.09.09 132 CNGFU 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 20399351 10458360 12119 4.97e-01 2004.02.24 2004.03.04 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 164430270 10458360 NA19240_36_chr1_170900598 4.97e-01 2009.09.29 2009.09.29 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 165440821 10458360 NA07022_36_chr1_170900598 4.97e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 167284286 10458360 NA20431_36_chr1_170900598 4.97e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 139166666 10458360 ENSSNP94719 4.97e-01 2009.05.18 2009.10.16 2003.12.05 2011.09.09 132 HGSV 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 78140441 10458360 Cor12878_SNV_20070510.chr1_169365632 4.97e-01 2007.10.18 2007.10.18 2003.12.05 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 99262172 10458360 1103675262348 4.97e-01 2008.04.03 2008.04.03 2003.12.05 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 159895555 10458360 HumanOmni1-Quad_v1-0_B_rs10458360-128_T_R_1511233072 4.97e-01 2009.08.04 2009.10.01 2003.12.05 2011.09.09 132 ILLUMINA 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 170103557 10458360 Human1M-Duov3_B_rs10458360-128_T_R_1511233072 4.97e-01 2009.10.01 2009.10.01 2003.12.05 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 119092018 10458360 NA18507_000170786_NCBI36.1_chr1_170900598 4.97e-01 2009.01.22 2009.01.22 2003.12.05 2011.09.09 132 KRIBB_YJKIM 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 82720216 10458360 KHS310795 4.97e-01 2007.12.03 2007.12.03 2003.12.05 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 24631278 10458360 afd0662223 4.97e-01 2004.08.21 2004.09.13 2003.12.05 2011.09.09 132 PERLEGEN 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 68784878 10458360 PGP00662223 4.97e-01 2007.01.30 2008.03.31 2003.12.05 2011.09.09 132 PJP 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 290664484 10458360 SNP_170842_chr1_170900598 4.97e-01 2011.01.21 2011.01.21 2003.12.05 2011.09.09 132 SC_SNP 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 14801502 10458360 NT_004487.16_1682467 4.97e-01 2003.11.12 2003.11.22 2003.12.05 2011.09.09 132 SSAHASNP 356 NM_000639.1:c.451+445G>C;NG_007269.1:g.10791G>C;NM_000639.1:c.451+445G>C;NT_004487.19:g.24122617G>C 20518814 10458360 WGSA-200403-chr1.chr1.NT_004487.16_1682467 4.97e-01 2004.03.18 2006.10.26 2003.12.05 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.451+590G>A;NG_007269.1:g.10936G>A;NM_000639.1:c.451+590G>A;NT_004487.19:g.24122762G>A 218719979 75945512 pilot_1_YRI_529662_chr1_170900743 1.92e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.451+590G>A;NG_007269.1:g.10936G>A;NM_000639.1:c.451+590G>A;NT_004487.19:g.24122762G>A 238420251 75945512 pilot_1_CHB+JPT_305328_chr1_170900743 1.92e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 356 454470491 188776280 20101123_snps_637721_chr1_172634181 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470492 181562810 20101123_snps_637722_chr1_172634409 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.452-306A>T;NG_007269.1:g.11272A>T;NM_000639.1:c.452-306A>T;NT_004487.19:g.24123098A>T 218719980 74763849 pilot_1_YRI_529663_chr1_170901079 3.66e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 356 454470493 186046777 20101123_snps_637723_chr1_172634503 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.452-230T>C;NG_007269.1:g.11348T>C;NM_000639.1:c.452-230T>C;NT_004487.19:g.24123174T>C 218719981 78243263 pilot_1_YRI_529664_chr1_170901155 3.66e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 356 454470494 189535373 20101123_snps_637724_chr1_172634542 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 326100352 144358548 JPTCHB_chr1_170901212_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 356 326103944 144358548 CEU_chr1_170901212_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 356 326135866 144358548 YRI_chr1_170901212_indel 2011.03.11 2011.04.02 2011.05.09 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.452-172delG;NG_007269.1:g.11406delG;NM_000639.1:c.452-172delG;NT_004487.19:g.24123232delG 193136035 11324307 BUSHMAN-chr1-170901212-170901213 2010.02.16 2010.02.16 2004.02.28 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.452-172G>T;NG_007269.1:g.11406G>T;NM_000639.1:c.452-172G>T;NT_004487.19:g.24123232G>T 199249848 111958872 BUSHMAN-chr1-170901212 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 DEVINE_LAB 356 NM_000639.1:c.452-172delG;NG_007269.1:g.11406delG;NM_000639.1:c.452-172delG;NT_004487.19:g.24123232delG 15202500 11324307 INDEL_GP34_WGS_318428 2003.11.13 2003.11.22 2004.02.28 2011.09.09 132 GMI 356 NM_000639.1:c.452-172delG;NG_007269.1:g.11406delG;NM_000639.1:c.452-172delG;NT_004487.19:g.24123232delG 287683259 11324307 GMI_NA10851_INDEL_15863 2010.12.18 2010.12.20 2004.02.28 2011.09.09 132 HGBASE 356 NM_000639.1:c.452-170delT;NG_007269.1:g.11408delT;NM_000639.1:c.452-170delT;NT_004487.19:g.24123234delT 7985773 5030645 IND001494069 2003.03.19 2003.10.10 2003.03.31 2011.07.08 132 1000GENOMES 356 329031609 142700343 20100804_snps_675145_chr1_172634606 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.452-111A>G;NT_004487.19:g.24123293A>G 210671793 116111283 YRI.trio.3.2010_75988_chr1_170901274 7.31e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.452-111A>G;NT_004487.19:g.24123293A>G 329031610 116111283 20100804_snps_675146_chr1_172634651 7.31e-03 2011.03.22 2011.03.22 2010.07.14 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.452-108C>A;NT_004487.19:g.24123296C>A 210671796 116814521 YRI.trio.3.2010_75989_chr1_170901277 7.31e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.452-108C>A;NT_004487.19:g.24123296C>A 329031611 116814521 20100804_snps_675147_chr1_172634654 7.31e-03 2011.03.22 2011.03.22 2010.07.14 2011.10.06 132 BUSHMAN 356 NM_000639.1:c.452-67C>T;NG_007269.1:g.11511C>T;NM_000639.1:c.452-67C>T;NT_004487.19:g.24123337C>T 199249852 112628504 BUSHMAN-chr1-170901317 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 ABI 356 NM_000639.1:c.452-34_452-33insC;NG_007269.1:g.11544_11545insC;NM_000639.1:c.452-34_452-33insC;NT_004487.19:g.24123370_24123371insC 41237375 36047232 hCV33322926 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 108704743 2639653 CEU.trio.12.15.2008_187973_chr1_170901357 7.77e-03 2008.12.16 2008.12.16 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 111348445 2639653 NA19240_2008_12_16_172416_chr1_170901357 7.77e-03 2008.12.17 2008.12.17 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 218719982 2639653 pilot_1_YRI_529665_chr1_170901357 7.77e-03 2010.04.22 2010.04.22 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 230783400 2639653 pilot_1_CEU_388029_chr1_170901357 7.77e-03 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 238420252 2639653 pilot_1_CHB+JPT_305329_chr1_170901357 7.77e-03 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 BCM-HGSC-SUB 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 205044182 2639653 BCM_CMT_1011-2924 7.77e-03 2010.03.15 2010.03.15 2001.09.28 2011.09.09 132 BCMHGSC_JDW 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 87870418 2639653 JWB-0145826 7.77e-03 2008.02.26 2008.02.26 2001.09.28 2011.09.09 132 BCM_SSAHASNP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 9832809 2639653 chr1.NT_004487.15_1488292 7.77e-03 2003.06.28 2003.10.10 2001.09.28 2011.09.09 132 BGI 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 106611347 2639653 BGI_rs2639653 7.77e-03 2008.09.17 2009.06.16 2001.09.28 2011.09.09 132 BL 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 253606671 2639653 SNP161369_1_170901357 7.77e-03 2010.08.18 2010.08.18 2001.09.28 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 199249855 2639653 BUSHMAN-chr1-170901356 7.77e-03 2010.03.06 2010.03.06 2001.09.28 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 76867725 2639653 9107 7.77e-03 2007.09.12 2007.09.12 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 164430283 2639653 NA19240_36_chr1_170901357 7.77e-03 2009.09.29 2009.09.29 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 165440836 2639653 NA07022_36_chr1_170901357 7.77e-03 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 167284294 2639653 NA20431_36_chr1_170901357 7.77e-03 2009.09.30 2009.09.30 2001.09.28 2011.09.09 132 CSHL-HAPMAP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 17355082 2639653 CSHL-HuCC-200402.chr1.NT_004487.16_1683226 7.77e-03 2004.02.19 2004.03.04 2001.09.28 2011.09.09 132 CSHL-HAPMAP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 19854647 2639653 CSHL-HuFF-200402.chr1.NT_004487.16_1683226 7.77e-03 2004.02.21 2004.03.04 2001.09.28 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 138104929 2639653 ENSSNP5859764 7.77e-03 2009.05.17 2009.05.17 2001.09.28 2011.09.09 132 ENSEMBL 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 139166663 2639653 ENSSNP94720 7.77e-03 2009.05.18 2009.10.16 2001.09.28 2011.09.09 132 GMI 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 155928467 2639653 GMI_SNP_71484814 7.77e-03 2009.06.24 2009.06.24 2001.09.28 2011.09.09 132 HGSV 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 78189981 2639653 Cor12878_SNV_20070510.chr1_169366391 7.77e-03 2007.10.18 2007.10.18 2001.09.28 2011.09.09 132 HGSV 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 78817398 2639653 Cor18507_SNV_20070510.chr1_169366391 7.77e-03 2007.10.20 2007.10.20 2001.09.28 2011.09.09 132 HGSV 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 82770989 2639653 Cor19240_SNV_20070510.chr1_169366391 7.77e-03 2007.12.03 2007.12.03 2001.09.28 2011.09.09 132 HUMANGENOME_JCVI 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 97984027 2639653 1103675262355 7.77e-03 2008.03.30 2008.03.30 2001.09.28 2011.09.09 132 ILLUMINA-UK 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 119092021 2639653 NA18507_000170787_NCBI36.1_chr1_170901357 7.77e-03 2009.01.22 2009.01.22 2001.09.28 2011.09.09 132 PJP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 290664485 2639653 SNP_170843_chr1_170901357 7.77e-03 2011.01.21 2011.01.21 2001.09.28 2011.09.09 132 SC_JCM 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 3718889 2639653 AC025032.11_93572 7.77e-03 2001.09.25 2003.10.10 2001.09.28 2011.09.09 132 SC_SNP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 12999810 2639653 NT_004487.15_1488292 7.77e-03 2003.10.22 2003.10.31 2001.09.28 2011.09.09 132 SI_EXO 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 52076179 2639653 NT_004487.17_23043673 7.77e-03 2006.03.29 2006.03.29 2001.09.28 2011.09.09 132 SSAHASNP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 20479127 2639653 WGSA-200403-chr1.chr1.NT_004487.16_1683226 7.77e-03 2004.03.18 2004.03.18 2001.09.28 2011.09.09 132 WI_SSAHASNP 356 NM_000639.1:c.452-28T>C;NG_007269.1:g.11550T>C;NM_000639.1:c.452-28T>C;NT_004487.19:g.24123376T>C 11364015 2639653 chr1.NT_004487.15_1488292 7.77e-03 2003.07.03 2003.10.10 2001.09.28 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.452-9T>A;NG_007269.1:g.11569T>A;NM_000639.1:c.452-9T>A;NT_004487.19:g.24123395T>A 76869949 56302633 12424 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 GENEREVIEWS 356 NM_000639.1:c.466A>G NM_000639.1:c.466A>G;NG_007269.1:g.11592A>G;NP_000630.1:p.Arg156Gly;NM_000639.1:c.466A>G;NT_004487.19:g.24123418A>G;NP_000630.1:p.Arg156Gly 187602450 80358238 NM_000639.1:c.466A>G pathogenic 2010.02.04 2010.02.04 2010.02.04 2011.07.08 132 GENEREVIEWS 356 NM_000639.1:c.472_555del NM_000639.1:c.472_555del84;NG_007269.1:g.11598_11681del84;NM_000639.1:c.472_555del84;NT_004487.19:g.24123424_24123507del84 187602435 80358236 NM_000639.1:c.472_555del pathogenic 2010.02.04 2010.02.04 2010.02.04 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.566A>C;NG_007269.1:g.11692A>C;NP_000630.1:p.Tyr189Ser;NM_000639.1:c.566A>C;NT_004487.19:g.24123518A>C;NP_000630.1:p.Tyr189Ser 160031736 12079514 HumanOmni1-Quad_v1-0_B_rs12079514-128_T_F_1562123009 2009.08.05 2009.10.01 2004.02.28 2011.09.09 132 SC_SNP 356 NM_000639.1:c.566A>C;NG_007269.1:g.11692A>C;NP_000630.1:p.Tyr189Ser;NM_000639.1:c.566A>C;NT_004487.19:g.24123518A>C;NP_000630.1:p.Tyr189Ser 18178200 12079514 SC-CHR1_NA17109-200402.chr1.NT_004487.16_1683368 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 NHLBI-ESP 356 342011677 147369993 ESP2500-chr1-172634941 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 CGM_KYOTO 356 NM_000639.1:c.649A>G;NG_007269.1:g.11775A>G;NP_000630.1:p.Lys217Glu;NM_000639.1:c.649A>G;NT_004487.19:g.24123601A>G;NP_000630.1:p.Lys217Glu 76867726 55728520 9108 2007.09.12 2007.09.12 2007.12.06 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.670A>G;NG_007269.1:g.11796A>G;NP_000630.1:p.Met224Val;NM_000639.1:c.670A>G;NT_004487.19:g.24123622A>G;NP_000630.1:p.Met224Val 199249859 111238176 BUSHMAN-chr1-170901602 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 NHLBI-ESP 356 342011678 148435705 ESP2500-chr1-172635032 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 GENEREVIEWS 356 NM_000639.1:c.740C>A NM_000639.1:c.740C>A;NG_007269.1:g.11866C>A;NP_000630.1:p.Ala247Glu;NM_000639.1:c.740C>A;NT_004487.19:g.24123692C>A;NP_000630.1:p.Ala247Glu 187602444 80358237 NM_000639.1:c.740C>A pathogenic 2010.02.04 2010.02.04 2010.02.04 2011.07.08 132 APPLERA_GI 356 NM_000639.1:c.796C>G;NG_007269.1:g.11922C>G;NP_000630.1:p.Leu266Val;NM_000639.1:c.796C>G;NT_004487.19:g.24123748C>G;NP_000630.1:p.Leu266Val 48428401 35178418 hCV22272200 2005.11.30 2005.11.30 2006.03.14 2011.07.08 132 ILLUMINA 356 NM_000639.1:c.796C>G;NG_007269.1:g.11922C>G;NP_000630.1:p.Leu266Val;NM_000639.1:c.796C>G;NT_004487.19:g.24123748C>G;NP_000630.1:p.Leu266Val 244295328 35178418 CVDSNP55v1_A_rs35178418 2010.06.10 2010.06.10 2006.03.14 2011.07.08 132 NHLBI-ESP 356 NM_000639.1:c.796C>G;NG_007269.1:g.11922C>G;NP_000630.1:p.Leu266Val;NM_000639.1:c.796C>G;NT_004487.19:g.24123748C>G;NP_000630.1:p.Leu266Val 342011681 35178418 ESP2500-chr1-172635106 2011.03.25 2011.03.25 2006.03.14 2011.07.08 132 NHLBI-ESP 356 342011684 139260963 ESP2500-chr1-172635111 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 356 342011685 144105303 ESP2500-chr1-172635138 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 CGM_KYOTO 356 NM_000639.1:c.*30G>A;NG_007269.1:g.12002G>A;NM_000639.1:c.*30G>A;NT_004487.19:g.24123828G>A 76867727 56011252 9109 2007.09.12 2007.09.12 2007.12.07 2011.07.08 132 1000GENOMES 356 329031612 144742695 20100804_snps_675148_chr1_172635292 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 SHGC/AFFYMETRIX 356 NM_000639.1:c.*233T>A;NG_007269.1:g.12205T>A;NM_000639.1:c.*233T>A;NT_004487.19:g.24124031T>A 20105 17475 SNPA-SHGC-11872 1999.10.28 2003.12.23 2000.09.19 2011.10.06 132 SHGC/AFFYMETRIX 356 NM_000639.1:c.*250G>C;NG_007269.1:g.12222G>C;NM_000639.1:c.*250G>C;NT_004487.19:g.24124048G>C 20106 17476 SNPB-SHGC-11872 1999.10.28 2003.12.23 2000.09.19 2011.10.06 132 1000GENOMES 356 329031613 138658215 20100804_snps_675149_chr1_172635562 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.*457G>A;NG_007269.1:g.12429G>A;NM_000639.1:c.*457G>A;NT_004487.19:g.24124255G>A 454470495 55739739 20101123_snps_637725_chr1_172635613 4.57e-04 2011.07.20 2011.07.20 2007.12.06 2011.10.06 132 CGM_KYOTO 356 NM_000639.1:c.*457G>A;NG_007269.1:g.12429G>A;NM_000639.1:c.*457G>A;NT_004487.19:g.24124255G>A 76867728 55739739 9110 4.57e-04 2007.09.12 2007.09.12 2007.12.06 2011.10.06 132 1000GENOMES 356 454470496 185870217 20101123_snps_637726_chr1_172635643 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470497 191124407 20101123_snps_637727_chr1_172635655 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DEVINE_LAB 356 NM_000639.1:c.*600_*601ins2;NG_007269.1:g.12572_12573ins2;NM_000639.1:c.*600_*601ins2;NT_004487.19:g.24124398_24124399ins2 15069435 10640513 INDEL_GP34_WGS_158720 2003.11.13 2003.11.22 2003.12.05 2011.07.08 132 BUSHMAN 356 NM_000639.1:c.*601_*606del6;NG_007269.1:g.12573_12578del6;NM_000639.1:c.*601_*606del6;NT_004487.19:g.24124399_24124404del6 193136037 111989487 BUSHMAN-chr1-170902379-170902385 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 DEVINE_LAB 356 NM_000639.1:c.*601_*602ins2;NG_007269.1:g.12573_12574ins2;NM_000639.1:c.*601_*602ins2;NT_004487.19:g.24124399_24124400ins2 50134056 35935523 INDEL_GP35_WGS_347905 2006.01.24 2006.01.24 2006.03.15 2011.07.08 132 DEVINE_LAB 356 NM_000639.1:c.*601_*602ins2;NG_007269.1:g.12573_12574ins2;NM_000639.1:c.*601_*602ins2;NT_004487.19:g.24124399_24124400ins2 99529177 35935523 INDEL_GP36_2007a_422843_0 2008.05.05 2008.05.05 2006.03.15 2011.07.08 132 ILLUMINA-UK 356 NM_000639.1:c.*606T>A;NG_007269.1:g.12578T>A;NM_000639.1:c.*606T>A;NT_004487.19:g.24124404T>A 119092023 74124375 NA18507_000170788_NCBI36.1_chr1_170902385 variation has been flagged as failed by submitter 2009.01.22 2009.01.22 2009.02.15 2011.09.09 132 ABI 356 NM_000639.1:c.*674G>A;NG_007269.1:g.12646G>A;NM_000639.1:c.*674G>A;NT_004487.19:g.24124472G>A 41123531 1845137 hCV11974229 2005.07.17 2005.07.17 2001.01.12 2011.07.08 132 TSC-CSHL 356 NM_000639.1:c.*674G>A;NG_007269.1:g.12646G>A;NM_000639.1:c.*674G>A;NT_004487.19:g.24124472G>A 2716212 1845137 TSC0728999 2001.01.02 2003.10.10 2001.01.12 2011.07.08 132 1000GENOMES 356 454470498 183270618 20101123_snps_637728_chr1_172635836 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 454470499 186475122 20101123_snps_637729_chr1_172635851 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.*737C>T;NG_007269.1:g.12709C>T;NM_000639.1:c.*737C>T;NT_004487.19:g.24124535C>T 329031614 112565343 20100804_snps_675150_chr1_172635893 4.57e-04 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 356 NM_000639.1:c.*737C>T;NG_007269.1:g.12709C>T;NM_000639.1:c.*737C>T;NT_004487.19:g.24124535C>T 199249863 112565343 BUSHMAN-chr1-170902515 4.57e-04 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 356 NM_000639.1:c.*754G>A;NG_007269.1:g.12726G>A;NM_000639.1:c.*754G>A;NT_004487.19:g.24124552G>A 329031615 55779656 20100804_snps_675151_chr1_172635910 4.57e-04 2011.03.22 2011.03.22 2007.12.06 2011.10.06 132 CGM_KYOTO 356 NM_000639.1:c.*754G>A;NG_007269.1:g.12726G>A;NM_000639.1:c.*754G>A;NT_004487.19:g.24124552G>A 76867729 55779656 9111 4.57e-04 2007.09.12 2007.09.12 2007.12.06 2011.10.06 132 1000GENOMES 356 NM_000639.1:c.*817A>G;NT_004487.19:g.24124615A>G 238420253 45442301 pilot_1_CHB+JPT_305330_chr1_170902596 2.29e-03 2010.05.01 2010.05.01 2007.05.16 2011.09.09 132 CGM_KYOTO 356 NM_000639.1:c.*817A>G;NT_004487.19:g.24124615A>G 76867730 45442301 9112 2.29e-03 2007.09.12 2007.09.12 2007.05.16 2011.09.09 132 KYUGEN 356 NM_000639.1:c.*817A>G;NT_004487.19:g.24124615A>G 68756215 45442301 QH02834 2.29e-03 2007.01.26 2007.01.26 2007.05.16 2011.09.09 132 1000GENOMES 356 329031616 137953249 20100804_snps_675152_chr1_172636316 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 218719984 6690331 pilot_1_YRI_529667_chr1_170903090 4.57e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 AFFY 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 66150824 6690331 SNP_A-2132547 4.57e-02 2006.10.27 2008.03.31 2003.07.11 2011.09.09 132 AFFY 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 76180008 6690331 AFFY_6_1M_SNP_A-2132547 4.57e-02 2007.08.30 2007.08.30 2003.07.11 2011.09.09 132 AFFY 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 172727433 6690331 GenomeWideSNP_5_SNP_A-2132547 4.57e-02 2009.10.02 2009.10.02 2003.07.11 2011.09.09 132 BCM_SSAHASNP 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 9877512 6690331 chr1.NT_004487.15_1490025 4.57e-02 2003.06.28 2006.10.25 2003.07.11 2011.09.09 132 BUSHMAN 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 199249867 6690331 BUSHMAN-chr1-170903089 4.57e-02 2010.03.06 2010.03.06 2003.07.11 2011.09.09 132 HGSV 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 78987953 6690331 Cor18507_SNV_20070510.chr1_169368124 4.57e-02 2007.10.21 2007.10.21 2003.07.11 2011.09.09 132 ILLUMINA-UK 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 119092026 6690331 NA18507_000170789_NCBI36.1_chr1_170903090 4.57e-02 2009.01.22 2009.01.22 2003.07.11 2011.09.09 132 KRIBB_YJKIM 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 82289629 6690331 KHS222252 4.57e-02 2007.12.02 2007.12.02 2003.07.11 2011.09.09 132 PERLEGEN 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 23687542 6690331 afd0662220 4.57e-02 2004.08.20 2004.09.13 2003.07.11 2011.09.09 132 SC_SNP 356 NG_007269.1:g.13283C>T;NT_004487.19:g.24125109C>T 15380575 6690331 NT_004487.16_1684959 4.57e-02 2003.11.14 2003.11.22 2003.07.11 2011.09.09 132 1000GENOMES 356 454470500 190466292 20101123_snps_637730_chr1_172636513 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 # Report date: 2012.1.24, Gene: FASLG (356), ss count: 544, rs count: 191.