# 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 2597 NT_009759.16:g.6581703C>T 225589041 115124113 pilot_1_YRI_7398724_chr12_6511964 1.23e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 BUSHMAN 2597 NG_007073.2:g.3112T>G;NT_009759.16:g.6581768T>G 203501560 113537117 BUSHMAN-chr12-6512028 2010.03.09 2010.03.09 2010.07.04 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.3128C>G;NT_009759.16:g.6581784C>G 225589042 79313614 pilot_1_YRI_7398725_chr12_6512045 1.55e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2597 462674398 183069169 20101123_snps_8841628_chr12_6641865 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NG_007073.2:g.3226C>T;NT_009759.16:g.6581882C>T 337130631 3759342 20100804_snps_8774172_chr12_6641882 2.74e-03 2011.03.22 2011.03.22 2002.08.28 2011.10.06 132 YUSUKE 2597 NG_007073.2:g.3226C>T;NT_009759.16:g.6581882C>T 4945374 3759342 IMS-JST112738 2.74e-03 2002.08.01 2003.10.10 2002.08.28 2011.10.06 132 1000GENOMES 2597 NG_007073.2:g.3269G>C;NT_009759.16:g.6581925G>C 225589043 79264455 pilot_1_YRI_7398726_chr12_6512186 2.29e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2597 NG_007073.2:g.3283G>A;NT_009759.16:g.6581939G>A 337130632 45540931 20100804_snps_8774173_chr12_6641939 5.03e-03 2011.03.22 2011.03.22 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.3283G>A;NT_009759.16:g.6581939G>A 70455745 45540931 GAPD-000128 5.03e-03 2007.04.19 2007.04.19 2007.05.17 2011.09.09 132 1000GENOMES 2597 462674399 187367532 20101123_snps_8841629_chr12_6641943 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NG_007073.2:g.3303G>A;NT_009759.16:g.6581959G>A 225589044 45509198 pilot_1_YRI_7398727_chr12_6512220 2.29e-03 2010.04.22 2010.04.22 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.3303G>A;NT_009759.16:g.6581959G>A 70455746 45509198 GAPD-000148 2.29e-03 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.3399A>G;NT_009759.16:g.6582055A>G 225589045 45578841 pilot_1_YRI_7398728_chr12_6512316 7.77e-03 2010.04.22 2010.04.22 2007.05.18 2011.07.08 132 EGP_SNPS 2597 NG_007073.2:g.3399A>G;NT_009759.16:g.6582055A>G 70455747 45578841 GAPD-000244 7.77e-03 2007.04.19 2007.04.19 2007.05.18 2011.07.08 132 1000GENOMES 2597 337130633 139903317 20100804_snps_8774174_chr12_6642087 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674400 191125703 20101123_snps_8841630_chr12_6642165 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 337130634 149633934 20100804_snps_8774175_chr12_6642202 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674401 183314323 20101123_snps_8841631_chr12_6642354 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 462674402 187974046 20101123_snps_8841632_chr12_6642360 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 2597 NG_007073.2:g.3727G>C;NT_009759.16:g.6582383G>C 203501564 112670942 BUSHMAN-chr12-6512643 2010.03.09 2010.03.09 2010.07.04 2011.09.09 132 BCMHGSC_JDW 2597 NG_007073.2:g.3910G>A;NT_009759.16:g.6582566G>A 88939213 61918038 JWB-2817499 2008.02.28 2008.02.28 2008.03.24 2011.09.09 132 ENSEMBL 2597 NG_007073.2:g.3910G>A;NT_009759.16:g.6582566G>A 132977681 61918038 ENSSNP10545026 2009.05.12 2009.05.14 2008.03.24 2011.09.09 132 1000GENOMES 2597 462674403 192301390 20101123_snps_8841633_chr12_6642614 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 EGP_SNPS 2597 NG_007073.2:g.4197C>T;NT_009759.16:g.6582853C>T 70455748 45564644 GAPD-001043 2007.04.19 2007.04.19 2007.05.18 2011.09.09 132 BCM-HGSC-SUB 2597 NG_007073.2:g.4202G>C;NT_009759.16:g.6582858G>C 208440591 112513012 BCM_CMT_1011-2441803 2010.03.19 2010.03.19 2010.07.04 2011.07.08 132 1000GENOMES 2597 NG_007073.2:g.4330C>G;NT_009759.16:g.6582986C>G 225589046 45459592 pilot_1_YRI_7398729_chr12_6513247 1.55e-02 2010.04.22 2010.04.22 2007.05.16 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4330C>G;NT_009759.16:g.6582986C>G 70455749 45459592 GAPD-001176 1.55e-02 2007.04.19 2008.03.31 2007.05.16 2011.09.09 132 1000GENOMES 2597 462674404 185043822 20101123_snps_8841634_chr12_6643022 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NG_007073.2:g.4414T>G;NT_009759.16:g.6583070T>G 225589047 45612631 pilot_1_YRI_7398730_chr12_6513331 2.33e-02 2010.04.22 2010.04.22 2007.05.18 2011.07.08 132 EGP_SNPS 2597 NG_007073.2:g.4414T>G;NT_009759.16:g.6583070T>G 70455750 45612631 GAPD-001260 2.33e-02 2007.04.19 2008.03.31 2007.05.18 2011.07.08 132 ABI 2597 NG_007073.2:g.4481delG;NT_009759.16:g.6583137delG 40245152 36015908 hCV34067653 2005.07.16 2005.07.16 2006.03.15 2011.07.08 132 ABI 2597 NG_007073.2:g.4500delG;NT_009759.16:g.6583156delG 40153673 36094914 hCV34067652 2005.07.16 2005.07.16 2006.03.16 2011.07.08 132 1000GENOMES 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 111428818 6489721 CEU.trio.12.15.2008_2670041_chr12_6513577 3.33e-01 2008.12.17 2008.12.17 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 113118624 6489721 NA19240_2008_12_16_2406065_chr12_6513577 3.33e-01 2008.12.18 2008.12.18 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 225589048 6489721 pilot_1_YRI_7398731_chr12_6513577 3.33e-01 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 235810074 6489721 pilot_1_CEU_5414703_chr12_6513577 3.33e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 242391514 6489721 pilot_1_CHB+JPT_4276591_chr12_6513577 3.33e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 66259689 6489721 SNP_A-4289712 3.33e-01 2006.10.28 2008.03.31 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 76404738 6489721 AFFY_6_1M_SNP_A-4289712 3.33e-01 2007.08.30 2007.08.30 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 173488763 6489721 GenomeWideSNP_5_SNP_A-4289712 3.33e-01 2009.10.03 2009.10.03 2003.07.11 2011.09.09 132 BCM_SSAHASNP 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 11015662 6489721 chr12.NT_009759.15_6497577 3.33e-01 2003.07.01 2008.03.31 2003.07.11 2011.09.09 132 BGI 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 106784412 6489721 BGI_rs6489721 3.33e-01 2008.09.18 2009.10.21 2003.07.11 2011.09.09 132 BUSHMAN 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 203501568 6489721 BUSHMAN-chr12-6513576 3.33e-01 2010.03.09 2010.03.09 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 167720925 6489721 NA07022_36_chr12_6513577 3.33e-01 2009.09.30 2009.09.30 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 168965859 6489721 NA19240_36_chr12_6513577 3.33e-01 2009.10.01 2009.10.01 2003.07.11 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 70455751 6489721 GAPD-001506 3.33e-01 2007.04.19 2008.03.31 2003.07.11 2011.09.09 132 GMI 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 157060441 6489721 GMI_SNP_30939353 3.33e-01 2009.06.25 2009.06.25 2003.07.11 2011.09.09 132 ILLUMINA 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 65761101 6489721 Human1-rs6489721 3.33e-01 2006.10.10 2006.10.10 2003.07.11 2011.09.09 132 ILLUMINA 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 74871013 6489721 ILMN_Human_1M_rs6489721 3.33e-01 2007.08.29 2007.08.29 2003.07.11 2011.09.09 132 ILLUMINA 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 160779470 6489721 HumanOmni1-Quad_v1-0_B_rs6489721-128_T_R_1513907481 3.33e-01 2009.08.07 2009.10.04 2003.07.11 2011.09.09 132 ILLUMINA 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 174015915 6489721 Human1M-Duov3_B_rs6489721-128_T_R_1513907481 3.33e-01 2009.10.04 2009.10.04 2003.07.11 2011.09.09 132 ILLUMINA-UK 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 118544877 6489721 NA18507_000009454_NCBI36.1_chr12_6513577 3.33e-01 2009.01.21 2009.01.21 2003.07.11 2011.09.09 132 KRIBB_YJKIM 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 82245561 6489721 KHS214132 3.33e-01 2007.12.02 2007.12.02 2003.07.11 2011.09.09 132 KYUGEN 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 28460370 6489721 QH04924 3.33e-01 2004.07.07 2005.05.13 2003.07.11 2011.09.09 132 PERLEGEN 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 69099824 6489721 PGP04132472 3.33e-01 2007.01.30 2008.03.31 2003.07.11 2011.09.09 132 PJP 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 291315516 6489721 SNP_821874_chr12_6513577 3.33e-01 2011.01.21 2011.01.21 2003.07.11 2011.09.09 132 WI_SSAHASNP 2597 NG_007073.2:g.4660T>C;NT_009759.16:g.6583316T>C 12190300 6489721 chr12.NT_009759.15_6497577 3.33e-01 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 111428826 7971637 CEU.trio.12.15.2008_2670042_chr12_6513590 2.13e-01 2008.12.17 2008.12.17 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 225589049 7971637 pilot_1_YRI_7398732_chr12_6513590 2.13e-01 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 235810075 7971637 pilot_1_CEU_5414704_chr12_6513590 2.13e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 242391515 7971637 pilot_1_CHB+JPT_4276592_chr12_6513590 2.13e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 66264142 7971637 SNP_A-4294265 2.13e-01 2006.10.28 2008.03.31 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 76409296 7971637 AFFY_6_1M_SNP_A-4294265 2.13e-01 2007.08.30 2007.08.30 2003.07.11 2011.09.09 132 AFFY 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 173498871 7971637 GenomeWideSNP_5_SNP_A-4294265 2.13e-01 2009.10.03 2009.10.03 2003.07.11 2011.09.09 132 BGI 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 106784413 7971637 BGI_rs7971637 2.13e-01 2008.09.18 2009.10.21 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 167720934 7971637 NA07022_36_chr12_6513590 2.13e-01 2009.09.30 2009.09.30 2003.07.11 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 66860267 7971637 GAPD_001519 2.13e-01 2006.11.09 2006.12.16 2003.07.11 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 70455752 7971637 GAPD-001519 2.13e-01 2007.04.19 2008.03.31 2003.07.11 2011.09.09 132 GMI 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 157060448 7971637 GMI_SNP_31449836 2.13e-01 2009.06.25 2009.06.25 2003.07.11 2011.09.09 132 ILLUMINA 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 160934822 7971637 HumanOmni1-Quad_v1-0_B_rs7971637-128_T_R_1561720569 2.13e-01 2009.08.07 2009.10.05 2003.07.11 2011.09.09 132 KRIBB_YJKIM 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 82525835 7971637 KHS272314 2.13e-01 2007.12.03 2007.12.03 2003.07.11 2011.09.09 132 KYUGEN 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 28460371 7971637 QH04925 2.13e-01 2004.07.07 2005.05.13 2003.07.11 2011.09.09 132 WI_SSAHASNP 2597 NG_007073.2:g.4673C>T;NT_009759.16:g.6583329C>T 12210307 7971637 chr12.NT_009759.15_6497590 2.13e-01 2003.07.04 2008.03.31 2003.07.11 2011.09.09 132 1000GENOMES 2597 NT_009759.16:g.6583430G>A 235810076 117187793 pilot_1_CEU_5414705_chr12_6513691 1.83e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 BL 2597 NT_009759.16:g.6583430G>A 254847247 117187793 SNP8832_12_6513691 1.83e-03 2010.08.19 2010.08.19 2010.07.15 2011.09.09 132 BCMHGSC_JDW 2597 NG_007073.2:g.4858_4859del2;NT_009759.16:g.6583514_6583515del2 103526657 79934000 JWB-4025026 2008.06.06 2009.05.11 2009.12.01 2011.07.08 132 ENSEMBL 2597 NG_007073.2:g.4858A>G;NT_009759.16:g.6583514A>G 132977684 76446346 ENSSNP10545027 2009.05.12 2009.05.14 2009.12.01 2011.09.09 132 1000GENOMES 2597 337130637 142400653 20100804_snps_8774178_chr12_6643526 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674405 188006487 20101123_snps_8841635_chr12_6643533 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 EGP_SNPS 2597 NG_007073.2:g.4897C>T;NT_009759.16:g.6583553C>T 70455753 45461995 GAPD-001743 2007.04.19 2008.03.31 2007.05.16 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 113118633 7307229 NA19240_2008_12_16_2406066_chr12_6513864 6.22e-02 2008.12.18 2008.12.18 2003.07.11 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 225589050 7307229 pilot_1_YRI_7398733_chr12_6513864 6.22e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 BCM_SSAHASNP 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 11038041 7307229 chr12.NT_009759.15_6497864 6.22e-02 2003.07.01 2003.10.10 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 168965873 7307229 NA19240_36_chr12_6513864 6.22e-02 2009.10.01 2009.10.01 2003.07.11 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 70455754 7307229 GAPD-001793 6.22e-02 2007.04.19 2008.03.31 2003.07.11 2011.09.09 132 ILLUMINA-UK 2597 NG_007073.2:g.4947C>G;NT_009759.16:g.6583603C>G 118544881 7307229 NA18507_000009455_NCBI36.1_chr12_6513864 6.22e-02 2009.01.21 2009.01.21 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4954G>C;NT_009759.16:g.6583610G>C 168965888 112427350 NA19240_36_chr12_6513871 2009.10.01 2009.10.01 2010.07.04 2011.09.09 132 HUMANGENOME_JCVI 2597 NG_007073.2:g.4955_4956insG;NT_009759.16:g.6583611_6583612insG 97267046 71450157 1103649356688 2008.03.28 2008.03.28 2009.02.13 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.4963T>C;NT_009759.16:g.6583619T>C 168965904 111720901 NA19240_36_chr12_6513880 2009.10.01 2009.10.01 2010.07.04 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.4983C>T;NT_009759.16:g.6583639C>T 225589051 45561238 pilot_1_YRI_7398734_chr12_6513900 2.83e-02 2010.04.22 2010.04.22 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NG_007073.2:g.4983C>T;NT_009759.16:g.6583639C>T 70455755 45561238 GAPD-001829 2.83e-02 2007.04.19 2008.03.31 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.-82C>T;NG_007073.2:g.5021C>T;NM_002046.3:c.-82C>T;NT_009759.16:g.6583677C>T 70455756 45571036 GAPD-001867 2007.04.19 2007.04.19 2007.05.18 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-80C>T;NG_007073.2:g.5023C>T;NM_002046.3:c.-80C>T;NT_009759.16:g.6583679C>T 462674406 45508900 20101123_snps_8841636_chr12_6643679 1.37e-03 2011.07.20 2011.07.20 2007.05.17 2011.10.06 132 EGP_SNPS 2597 NM_002046.3:c.-80C>T;NG_007073.2:g.5023C>T;NM_002046.3:c.-80C>T;NT_009759.16:g.6583679C>T 70455757 45508900 GAPD-001869 1.37e-03 2007.04.19 2007.04.19 2007.05.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.-56G>A;NG_007073.2:g.5047G>A;NM_002046.3:c.-56G>A;NT_009759.16:g.6583703G>A 225589052 45568532 pilot_1_YRI_7398735_chr12_6513964 2.10e-02 2010.04.22 2010.04.22 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.-56G>A;NG_007073.2:g.5047G>A;NM_002046.3:c.-56G>A;NT_009759.16:g.6583703G>A 70455758 45568532 GAPD-001893 2.10e-02 2007.04.19 2008.03.31 2007.05.18 2011.09.09 132 LEE 2597 4428399 3199979 e812757 2002.04.26 2003.10.10 2002.05.29 2011.07.08 132 CGAP-GAI 2597 16248896 11549332 1496344 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 16248905 11267039 1496378 2003.11.18 2003.11.22 2004.02.27 2011.07.08 132 CGAP-GAI 2597 16248931 11267039 1496617 2003.11.18 2003.11.22 2004.02.27 2011.07.08 132 1000GENOMES 2597 462674407 184407116 20101123_snps_8841637_chr12_6643773 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 462674408 188796702 20101123_snps_8841638_chr12_6643851 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.-23-96C>T;NG_007073.2:g.5224C>T;NM_002046.3:c.-23-96C>T;NT_009759.16:g.6583880C>T 225589053 45497495 pilot_1_YRI_7398736_chr12_6514141 3.43e-02 2010.04.22 2010.04.22 2007.05.17 2011.07.08 132 EGP_SNPS 2597 NM_002046.3:c.-23-96C>T;NG_007073.2:g.5224C>T;NM_002046.3:c.-23-96C>T;NT_009759.16:g.6583880C>T 70455759 45497495 GAPD-002070 3.43e-02 2007.04.19 2008.03.31 2007.05.17 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 211235490 3741915 YRI.trio.3.2010_1078181_chr12_6514188 3.95e-01 2010.03.30 2010.03.30 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 225589054 3741915 pilot_1_YRI_7398737_chr12_6514188 3.95e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 235810077 3741915 pilot_1_CEU_5414706_chr12_6514188 3.95e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 242391516 3741915 pilot_1_CHB+JPT_4276593_chr12_6514188 3.95e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 BGI 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 106784414 3741915 BGI_rs3741915 3.95e-01 2008.09.18 2009.10.21 2002.08.28 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 203501572 3741915 BUSHMAN-chr12-6514187 3.95e-01 2010.03.09 2010.03.09 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 167720952 3741915 NA07022_36_chr12_6514188 3.95e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 168965920 3741915 NA19240_36_chr12_6514188 3.95e-01 2009.10.01 2009.10.01 2002.08.28 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 70455760 3741915 GAPD-002117 3.95e-01 2007.04.19 2008.03.31 2002.08.28 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.-23-49T>G;NG_007073.2:g.5271T>G;NM_002046.3:c.-23-49T>G;NT_009759.16:g.6583927T>G 4927921 3741915 IMS-JST092988 3.95e-01 2002.07.29 2003.10.10 2002.08.28 2011.09.09 132 ABI 2597 NM_002046.3:c.-19G>T;NG_007073.2:g.5324G>T;NM_002046.3:c.-19G>T;NT_009759.16:g.6583980G>T 40205336 35318117 hCV34067651 2005.07.16 2005.07.16 2006.03.15 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.-19G>T;NG_007073.2:g.5324G>T;NM_002046.3:c.-19G>T;NT_009759.16:g.6583980G>T 160626363 35318117 HumanOmni1-Quad_v1-0_B_rs35318117-128_T_R_1562645691 2009.08.06 2009.10.04 2006.03.15 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 225589055 1136666 pilot_1_YRI_7398738_chr12_6514252 2.55e-01 2010.04.22 2010.04.22 2000.10.13 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 235810078 1136666 pilot_1_CEU_5414707_chr12_6514252 2.55e-01 2010.05.01 2010.05.01 2000.10.13 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 242391517 1136666 pilot_1_CHB+JPT_4276594_chr12_6514252 2.55e-01 2010.05.01 2010.05.01 2000.10.13 2011.09.09 132 ABI 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 38958681 1136666 hCV2655167 2.55e-01 2005.07.16 2006.11.02 2000.10.13 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 167720965 1136666 NA07022_36_chr12_6514252 2.55e-01 2009.09.30 2009.09.30 2000.10.13 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 70455761 1136666 GAPD-002181 2.55e-01 2007.04.19 2007.08.14 2000.10.13 2011.09.09 132 ENSEMBL 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 143087834 1136666 ENSSNP4832499 2.55e-01 2009.06.05 2009.10.16 2000.10.13 2011.09.09 132 GMI 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 157060455 1136666 GMI_SNP_30620873 2.55e-01 2009.06.25 2009.06.25 2000.10.13 2011.09.09 132 HGBASE 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 2424274 1136666 SNP000011653 2.55e-01 2000.11.07 2003.10.10 2000.10.13 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 65738739 1136666 Human1-rs3741916 2.55e-01 2006.10.10 2006.10.10 2000.10.13 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 159977509 1136666 HumanOmni1-Quad_v1-0_B_rs1136666-128_B_F_1561720570 2.55e-01 2009.08.04 2009.10.01 2000.10.13 2011.09.09 132 LEE 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 1541921 1136666 817888 2.55e-01 2000.09.13 2003.10.10 2000.10.13 2011.09.09 132 LEE 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 4428603 1136666 e817888 2.55e-01 2002.04.26 2003.10.10 2000.10.13 2011.09.09 132 LEE 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 4442421 1136666 e2088268 2.55e-01 2002.04.26 2003.10.10 2000.10.13 2011.09.09 132 SEQUENOM 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 24798358 1136666 sqnm148638 2.55e-01 2004.06.18 2004.08.05 2000.10.13 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.-8C>G;NG_007073.2:g.5335C>G;NM_002046.3:c.-8C>G;NT_009759.16:g.6583991C>G 4927922 1136666 IMS-JST092989 2.55e-01 2002.07.29 2003.10.10 2000.10.13 2011.09.09 132 NHLBI-ESP 2597 342347981 147280944 ESP2500-chr12-6644000 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.29+57A>G;NT_009759.16:g.6584084A>G 242391518 117200642 pilot_1_CHB+JPT_4276595_chr12_6514345 3.20e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+58C>G;NG_007073.2:g.5429C>G;NM_002046.3:c.29+58C>G;NT_009759.16:g.6584085C>G 225589056 45505494 pilot_1_YRI_7398739_chr12_6514346 2.29e-02 2010.04.22 2010.04.22 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+58C>G;NG_007073.2:g.5429C>G;NM_002046.3:c.29+58C>G;NT_009759.16:g.6584085C>G 70455762 45505494 GAPD-002275 2.29e-02 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 1000GENOMES 2597 337130638 151310315 20100804_snps_8774179_chr12_6644111 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 242391519 3741917 pilot_1_CHB+JPT_4276596_chr12_6514400 4.84e-02 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 66860268 3741917 GAPD_002329 4.84e-02 2006.11.09 2006.12.16 2002.08.28 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 70455763 3741917 GAPD-002329 4.84e-02 2007.04.19 2008.03.31 2002.08.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 75231553 3741917 ILMN_Human_1M_rs3741917 4.84e-02 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 173618325 3741917 Human1M-Duov3_B_rs3741917-107_B_F_1514215792 4.84e-02 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 119458524 3741917 KHS1620771 4.84e-02 2009.02.04 2009.02.04 2002.08.28 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.29+112C>T;NG_007073.2:g.5483C>T;NM_002046.3:c.29+112C>T;NT_009759.16:g.6584139C>T 4927923 3741917 IMS-JST092990 4.84e-02 2002.07.29 2003.10.10 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+200G>C;NG_007073.2:g.5571G>C;NM_002046.3:c.29+200G>C;NT_009759.16:g.6584227G>C 225589057 45524841 pilot_1_YRI_7398740_chr12_6514488 2.19e-02 2010.04.22 2010.04.22 2007.05.17 2011.07.08 132 EGP_SNPS 2597 NM_002046.3:c.29+200G>C;NG_007073.2:g.5571G>C;NM_002046.3:c.29+200G>C;NT_009759.16:g.6584227G>C 70455764 45524841 GAPD-002417 2.19e-02 2007.04.19 2008.03.31 2007.05.17 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 111428835 3741918 CEU.trio.12.15.2008_2670043_chr12_6514517 2.61e-01 2008.12.17 2008.12.17 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 225589058 3741918 pilot_1_YRI_7398741_chr12_6514517 2.61e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 235810079 3741918 pilot_1_CEU_5414708_chr12_6514517 2.61e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 242391520 3741918 pilot_1_CHB+JPT_4276597_chr12_6514517 2.61e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 BGI 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 106784415 3741918 BGI_rs3741918 2.61e-01 2008.09.18 2009.10.21 2002.08.28 2011.09.09 132 BL 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 254847253 3741918 SNP8833_12_6514517 2.61e-01 2010.08.19 2010.08.19 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 167720976 3741918 NA07022_36_chr12_6514517 2.61e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 66860269 3741918 GAPD_002446 2.61e-01 2006.11.09 2006.12.16 2002.08.28 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 70455765 3741918 GAPD-002446 2.61e-01 2007.04.19 2008.03.31 2002.08.28 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.29+229T>A;NG_007073.2:g.5600T>A;NM_002046.3:c.29+229T>A;NT_009759.16:g.6584256T>A 4927924 3741918 IMS-JST092991 2.61e-01 2002.07.29 2003.10.10 2002.08.28 2011.09.09 132 1000GENOMES 2597 462674409 149021869 20101123_snps_8841639_chr12_6644323 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 BL 2597 254847256 149021869 SNP8834_12_6514584 2010.08.19 2010.08.19 2011.05.09 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.29+306T>C;NG_007073.2:g.5677T>C;NM_002046.3:c.29+306T>C;NT_009759.16:g.6584333T>C 337130639 45592849 20100804_snps_8774180_chr12_6644333 6.86e-03 2011.03.22 2011.03.22 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+306T>C;NG_007073.2:g.5677T>C;NM_002046.3:c.29+306T>C;NT_009759.16:g.6584333T>C 70455766 45592849 GAPD-002523 6.86e-03 2007.04.19 2007.04.19 2007.05.18 2011.09.09 132 1000GENOMES 2597 462674410 185476453 20101123_snps_8841640_chr12_6644377 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 327928696 138781672 YRI_chr12_6514792_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+544A>G;NG_007073.2:g.5915A>G;NM_002046.3:c.29+544A>G;NT_009759.16:g.6584571A>G 225589059 45534631 pilot_1_YRI_7398742_chr12_6514832 1.55e-02 2010.04.22 2010.04.22 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+544A>G;NG_007073.2:g.5915A>G;NM_002046.3:c.29+544A>G;NT_009759.16:g.6584571A>G 70455767 45534631 GAPD-002761 1.55e-02 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+561C>G;NG_007073.2:g.5932C>G;NM_002046.3:c.29+561C>G;NT_009759.16:g.6584588C>G 337130640 45575233 20100804_snps_8774181_chr12_6644588 5.03e-03 2011.03.22 2011.03.22 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+561C>G;NG_007073.2:g.5932C>G;NM_002046.3:c.29+561C>G;NT_009759.16:g.6584588C>G 70455768 45575233 GAPD-002778 5.03e-03 2007.04.19 2008.03.31 2007.05.18 2011.09.09 132 1000GENOMES 2597 337130641 146656407 20100804_snps_8774182_chr12_6644637 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+640T>C;NT_009759.16:g.6584667T>C 225589060 116153912 pilot_1_YRI_7398743_chr12_6514928 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 111428839 1060621 CEU.trio.12.15.2008_2670044_chr12_6514957 2.38e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 225589061 1060621 pilot_1_YRI_7398744_chr12_6514957 2.38e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 235810080 1060621 pilot_1_CEU_5414709_chr12_6514957 2.38e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 242391521 1060621 pilot_1_CHB+JPT_4276598_chr12_6514957 2.38e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 BGI 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 106784416 1060621 BGI_rs1060621 2.38e-01 2008.09.18 2009.10.21 2000.10.05 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 4323181 1060621 273272 2.38e-01 2001.11.28 2003.10.10 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 167720991 1060621 NA07022_36_chr12_6514957 2.38e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 70455769 1060621 GAPD-002886 2.38e-01 2007.04.19 2007.08.14 2000.10.05 2011.09.09 132 GMI 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 157060461 1060621 GMI_SNP_114506424 2.38e-01 2009.06.25 2009.06.25 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 77488732 1060621 Cor12156_SNV_20070510.chr12_6514957 2.38e-01 2007.10.13 2007.10.13 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 78352461 1060621 Cor12878_SNV_20070510.chr12_6514957 2.38e-01 2007.10.19 2007.10.19 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 83266275 1060621 Cor18956_SNV_20070510.chr12_6514957 2.38e-01 2007.12.04 2007.12.04 2000.10.05 2011.09.09 132 LEE 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 1544499 1060621 870670 2.38e-01 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.29+669T>G;NG_007073.2:g.6040T>G;NM_002046.3:c.29+669T>G;NT_009759.16:g.6584696T>G 16166256 1060621 NT_009759.15_6498957 2.38e-01 2003.11.18 2004.05.16 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 111428845 1060620 CEU.trio.12.15.2008_2670045_chr12_6514983 3.83e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 113118638 1060620 NA19240_2008_12_16_2406067_chr12_6514983 3.83e-01 2008.12.18 2008.12.18 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 225589062 1060620 pilot_1_YRI_7398745_chr12_6514983 3.83e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 235810081 1060620 pilot_1_CEU_5414710_chr12_6514983 3.83e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 242391522 1060620 pilot_1_CHB+JPT_4276599_chr12_6514983 3.83e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 BGI 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 106784417 1060620 BGI_rs1060620 3.83e-01 2008.09.18 2009.10.21 2000.10.05 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 203501576 1060620 BUSHMAN-chr12-6514982 3.83e-01 2010.03.09 2010.03.09 2000.10.05 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 4323179 1060620 273270 3.83e-01 2001.11.28 2003.10.10 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 167721001 1060620 NA07022_36_chr12_6514983 3.83e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 168965933 1060620 NA19240_36_chr12_6514983 3.83e-01 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 70455770 1060620 GAPD-002912 3.83e-01 2007.04.19 2007.08.14 2000.10.05 2011.09.09 132 GMI 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 157060469 1060620 GMI_SNP_96530576 3.83e-01 2009.06.25 2009.06.25 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 77466779 1060620 Cor12156_SNV_20070510.chr12_6514983 3.83e-01 2007.10.13 2007.10.13 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 78333865 1060620 Cor12878_SNV_20070510.chr12_6514983 3.83e-01 2007.10.18 2007.10.18 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 83170388 1060620 Cor18956_SNV_20070510.chr12_6514983 3.83e-01 2007.12.04 2007.12.04 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 159848926 1060620 HumanOmni1-Quad_v1-0_B_GA010480-0_B_R_1533434450 3.83e-01 2009.08.04 2009.10.01 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 168946220 1060620 Human1M-Duov3_B_GA010480-0_B_R_1533434450 3.83e-01 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 ILLUMINA-UK 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 118544886 1060620 NA18507_000009456_NCBI36.1_chr12_6514983 3.83e-01 2009.01.21 2009.01.21 2000.10.05 2011.09.09 132 LEE 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 1544498 1060620 870657 3.83e-01 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 16130697 1060620 NT_009759.15_6498983 3.83e-01 2003.11.18 2004.05.16 2000.10.05 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.29+695A>G;NG_007073.2:g.6066A>G;NM_002046.3:c.29+695A>G;NT_009759.16:g.6584722A>G;NM_002046.3:c.29+695A>T;NG_007073.2:g.6066A>T;NM_002046.3:c.29+695A>T;NT_009759.16:g.6584722A>T 3201485 1060620 IMS-JST021569 3.83e-01 2001.09.05 2003.11.22 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 111428853 1060619 CEU.trio.12.15.2008_2670046_chr12_6515042 3.72e-01 2008.12.17 2008.12.17 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 211235492 1060619 YRI.trio.3.2010_1078182_chr12_6515042 3.72e-01 2010.03.30 2010.03.30 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 225589063 1060619 pilot_1_YRI_7398746_chr12_6515042 3.72e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 235810082 1060619 pilot_1_CEU_5414711_chr12_6515042 3.72e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 242391523 1060619 pilot_1_CHB+JPT_4276600_chr12_6515042 3.72e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 BGI 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 106784418 1060619 BGI_rs1060619 3.72e-01 2008.09.18 2009.10.21 2000.10.05 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 203501580 1060619 BUSHMAN-chr12-6515041 3.72e-01 2010.03.09 2010.03.09 2000.10.05 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 4323180 1060619 273271 3.72e-01 2001.11.28 2003.10.10 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 167721014 1060619 NA07022_36_chr12_6515042 3.72e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 168965948 1060619 NA19240_36_chr12_6515042 3.72e-01 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 66860270 1060619 GAPD_002971 3.72e-01 2006.11.09 2006.12.16 2000.10.05 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 70455771 1060619 GAPD-002971 3.72e-01 2007.04.19 2007.08.14 2000.10.05 2011.09.09 132 GMI 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 157060476 1060619 GMI_SNP_130196506 3.72e-01 2009.06.25 2009.06.25 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 77198359 1060619 Cor12156_SNV_20070510.chr12_6515042 3.72e-01 2007.10.09 2007.10.11 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 78094411 1060619 Cor12878_SNV_20070510.chr12_6515042 3.72e-01 2007.10.17 2007.10.17 2000.10.05 2011.09.09 132 HGSV 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 82006703 1060619 Cor18956_SNV_20070510.chr12_6515042 3.72e-01 2007.12.01 2007.12.01 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 66633852 1060619 HumanHap300v1.1_rs1060619 3.72e-01 2006.11.09 2006.11.09 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 66896535 1060619 HumanHap550v1.1_rs1060619 3.72e-01 2006.11.14 2006.11.14 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 67006633 1060619 HumanHap650Yv1.0_rs1060619 3.72e-01 2006.11.14 2006.11.14 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 70377105 1060619 HumanHap300v2.0_rs1060619 3.72e-01 2007.04.18 2007.11.18 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 70492590 1060619 HumanHap550v3.0__rs1060619 3.72e-01 2007.04.20 2008.03.30 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 71017281 1060619 HumanHap650Yv3.0_rs1060619 3.72e-01 2007.04.23 2007.04.23 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 75542108 1060619 ILMN_Human_1M_rs1060619 3.72e-01 2007.08.29 2007.08.29 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 121373300 1060619 HumanCNV370v1_C_rs1060619 3.72e-01 2009.04.14 2009.04.14 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 152796810 1060619 Human610_Quadv1_B_rs1060619-128_B_R_1501608016 3.72e-01 2009.06.18 2009.06.19 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 159137419 1060619 Human660W-Quad_v1_A_rs1060619-128_B_R_1501608016 3.72e-01 2009.07.06 2009.07.06 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 169573553 1060619 HumanCNV370-Quadv3_C_rs1060619-128_B_R_1501608016 3.72e-01 2009.10.01 2009.10.02 2000.10.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 170396466 1060619 Human1M-Duov3_B_rs1060619-128_B_R_1501608016 3.72e-01 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 ILLUMINA-UK 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 118544888 1060619 NA18507_000009457_NCBI36.1_chr12_6515042 3.72e-01 2009.01.21 2009.01.21 2000.10.05 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 83676004 1060619 KHS516769 3.72e-01 2007.12.05 2007.12.05 2000.10.05 2011.09.09 132 LEE 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 1544497 1060619 870596 3.72e-01 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 PJP 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 291315517 1060619 SNP_821875_chr12_6515042 3.72e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 16166257 1060619 NT_009759.15_6499042 3.72e-01 2003.11.18 2004.05.16 2000.10.05 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.29+754T>C;NG_007073.2:g.6125T>C;NM_002046.3:c.29+754T>C;NT_009759.16:g.6584781T>C 3201486 1060619 IMS-JST021570 3.72e-01 2001.09.05 2003.10.10 2000.10.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.29+788C>T;NG_007073.2:g.6159C>T;NM_002046.3:c.29+788C>T;NT_009759.16:g.6584815C>T 225589064 45602034 pilot_1_YRI_7398747_chr12_6515076 1.69e-02 2010.04.22 2010.04.22 2007.05.18 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.29+788C>T;NG_007073.2:g.6159C>T;NM_002046.3:c.29+788C>T;NT_009759.16:g.6584815C>T 203501584 45602034 BUSHMAN-chr12-6515075 1.69e-02 2010.03.09 2010.03.09 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.29+788C>T;NG_007073.2:g.6159C>T;NM_002046.3:c.29+788C>T;NT_009759.16:g.6584815C>T 70455772 45602034 GAPD-003005 1.69e-02 2007.04.19 2008.03.31 2007.05.18 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 113118648 41334949 NA19240_2008_12_16_2406068_chr12_6515219 8.59e-02 2008.12.18 2008.12.18 2006.11.29 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 225589065 41334949 pilot_1_YRI_7398748_chr12_6515219 8.59e-02 2010.04.22 2010.04.22 2006.11.29 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 235810083 41334949 pilot_1_CEU_5414712_chr12_6515219 8.59e-02 2010.05.01 2010.05.01 2006.11.29 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 242391524 41334949 pilot_1_CHB+JPT_4276601_chr12_6515219 8.59e-02 2010.05.01 2010.05.01 2006.11.29 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 203501588 41334949 BUSHMAN-chr12-6515218 8.59e-02 2010.03.09 2010.03.09 2006.11.29 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 168965963 41334949 NA19240_36_chr12_6515219 8.59e-02 2009.10.01 2009.10.01 2006.11.29 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 66860271 41334949 GAPD_003148 8.59e-02 2006.11.09 2006.12.16 2006.11.29 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-702C>G;NG_007073.2:g.6302C>G;NM_002046.3:c.30-702C>G;NT_009759.16:g.6584958C>G 70455773 41334949 GAPD-003148 8.59e-02 2007.04.19 2008.03.31 2006.11.29 2011.09.09 132 1000GENOMES 2597 462674411 189654310 20101123_snps_8841641_chr12_6645045 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 327404409 145305971 JPTCHB_chr12_6515334_indel 2011.03.12 2011.04.03 2011.05.09 2011.10.06 132 1000GENOMES 2597 327496288 145305971 CEU_chr12_6515334_indel 2011.03.12 2011.04.03 2011.05.09 2011.10.06 132 PJP 2597 294733946 145305971 DIP_171650_chr12_6515335 2011.01.22 2011.01.22 2011.05.09 2011.10.06 132 EGP_SNPS 2597 NM_002046.3:c.30-585delC;NG_007073.2:g.6419delC;NM_002046.3:c.30-585delC;NT_009759.16:g.6585075delC 70455774 45546631 GAPD-003265 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-551A>G;NG_007073.2:g.6453A>G;NM_002046.3:c.30-551A>G;NT_009759.16:g.6585109A>G 70455775 45623637 GAPD-003299 2007.04.19 2007.04.19 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-486delC;NG_007073.2:g.6518delC;NM_002046.3:c.30-486delC;NT_009759.16:g.6585174delC 70455776 45532643 GAPD-003364 2007.04.19 2007.04.19 2007.05.17 2011.09.09 132 1000GENOMES 2597 462674412 180833791 20101123_snps_8841642_chr12_6645176 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.30-462G>A;NG_007073.2:g.6542G>A;NM_002046.3:c.30-462G>A;NT_009759.16:g.6585198G>A 225589066 78014708 pilot_1_YRI_7398749_chr12_6515459 1.60e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2597 337130642 140242694 20100804_snps_8774183_chr12_6645221 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674413 185924580 20101123_snps_8841643_chr12_6645278 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 462674414 190257763 20101123_snps_8841644_chr12_6645414 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 111428861 2886093 CEU.trio.12.15.2008_2670047_chr12_6515826 4.74e-01 2008.12.17 2008.12.17 2001.11.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 113118656 2886093 NA19240_2008_12_16_2406069_chr12_6515826 4.74e-01 2008.12.18 2008.12.18 2001.11.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 225589067 2886093 pilot_1_YRI_7398750_chr12_6515826 4.74e-01 2010.04.22 2010.04.22 2001.11.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 235810085 2886093 pilot_1_CEU_5414714_chr12_6515826 4.74e-01 2010.05.01 2010.05.01 2001.11.05 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 242391525 2886093 pilot_1_CHB+JPT_4276602_chr12_6515826 4.74e-01 2010.05.01 2010.05.01 2001.11.05 2011.09.09 132 ABI 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 38881025 2886093 hCV25954439 4.74e-01 2005.07.16 2005.07.16 2001.11.05 2011.09.09 132 AFFY 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 76428537 2886093 AFFY_6_1M_SNP_A-8289502 4.74e-01 2007.08.30 2007.08.30 2001.11.05 2011.09.09 132 BCMHGSC_JDW 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 88939217 2886093 JWB-0512785 4.74e-01 2008.02.28 2008.02.28 2001.11.05 2011.09.09 132 BCM_SSAHASNP 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 11032587 2886093 chr12.NT_009759.15_6499826 4.74e-01 2003.07.01 2003.10.10 2001.11.05 2011.09.09 132 BGI 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 106784419 2886093 BGI_rs2886093 4.74e-01 2008.09.18 2009.10.21 2001.11.05 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 203501592 2886093 BUSHMAN-chr12-6515825 4.74e-01 2010.03.09 2010.03.09 2001.11.05 2011.09.09 132 CGM_KYOTO 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 76877668 2886093 720004 4.74e-01 2007.09.12 2007.09.12 2001.11.05 2011.09.09 132 CNG 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 95213125 2886093 18724087 4.74e-01 2008.03.13 2008.03.13 2001.11.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 167721023 2886093 NA07022_36_chr12_6515826 4.74e-01 2009.09.30 2009.09.30 2001.11.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 168965980 2886093 NA19240_36_chr12_6515826 4.74e-01 2009.10.01 2009.10.01 2001.11.05 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 170331880 2886093 NA20431_36_chr12_6515826 4.74e-01 2009.10.01 2009.10.05 2001.11.05 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 70455777 2886093 GAPD-003755 4.74e-01 2007.04.19 2007.08.14 2001.11.05 2011.09.09 132 ENSEMBL 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 132977687 2886093 ENSSNP10545028 4.74e-01 2009.05.12 2009.05.14 2001.11.05 2011.09.09 132 GMI 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 157060483 2886093 GMI_SNP_69125908 4.74e-01 2009.06.25 2009.06.25 2001.11.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 74987764 2886093 ILMN_Human_1M_rs2886093 4.74e-01 2007.08.29 2007.08.29 2001.11.05 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 173523370 2886093 Human1M-Duov3_B_rs2886093-127_B_F_1513972864 4.74e-01 2009.10.03 2009.10.03 2001.11.05 2011.09.09 132 ILLUMINA-UK 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 118544894 2886093 NA18507_000009458_NCBI36.1_chr12_6515826 4.74e-01 2009.01.21 2009.01.21 2001.11.05 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 119449289 2886093 KHS1611536 4.74e-01 2009.02.04 2009.02.04 2001.11.05 2011.09.09 132 PJP 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 291315518 2886093 SNP_821876_chr12_6515826 4.74e-01 2011.01.21 2011.01.21 2001.11.05 2011.09.09 132 SC_JCM 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 5827195 2886093 NT_009731.12_629960 4.74e-01 2003.01.11 2003.10.10 2001.11.05 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 16028651 2886093 NT_009759.15_6499826 4.74e-01 2003.11.18 2003.11.22 2001.11.05 2011.09.09 132 TSC-CSHL 2597 NM_002046.3:c.30-95T>C;NG_007073.2:g.6909T>C;NM_002046.3:c.30-95T>C;NT_009759.16:g.6585565T>C 4078046 2886093 TSC1755147 4.74e-01 2001.10.02 2008.03.31 2001.11.05 2011.09.09 132 1000GENOMES 2597 462674415 181167499 20101123_snps_8841645_chr12_6645568 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.30-85C>T;NG_007073.2:g.6919C>T;NM_002046.3:c.30-85C>T;NT_009759.16:g.6585575C>T 337130644 45566533 20100804_snps_8774185_chr12_6645575 2.29e-03 2011.03.22 2011.03.22 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.30-85C>T;NG_007073.2:g.6919C>T;NM_002046.3:c.30-85C>T;NT_009759.16:g.6585575C>T 70455778 45566533 GAPD-003765 2.29e-03 2007.04.19 2007.04.19 2007.05.18 2011.09.09 132 1000GENOMES 2597 337130645 149124460 20100804_snps_8774186_chr12_6645623 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674416 186159461 20101123_snps_8841646_chr12_6645637 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ILLUMINA 2597 NM_002046.3:c.30-2A>G;NG_007073.2:g.7002A>G;NM_002046.3:c.30-2A>G;NT_009759.16:g.6585658A>G 168946227 113012709 Human1M-Duov3_B_GA010481-0_T_F_1533434283 2009.10.01 2009.10.01 2010.07.04 2011.07.08 132 PJP 2597 291315519 141175552 SNP_821877_chr12_6515920 2011.01.21 2011.01.21 2011.05.09 2011.07.08 132 1000GENOMES 2597 462674417 190547766 20101123_snps_8841647_chr12_6645690 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 EGP_SNPS 2597 NM_002046.3:c.65C>G;NG_007073.2:g.7039C>G;NP_002037.2:p.Ala22Gly;NM_002046.3:c.65C>G;NT_009759.16:g.6585695C>G;NP_002037.2:p.Ala22Gly 70455779 45541435 GAPD-003885 2007.04.19 2007.04.19 2007.05.17 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.86A>G;NG_007073.2:g.7060A>G;NP_002037.2:p.Asp29Gly;NM_002046.3:c.86A>G;NT_009759.16:g.6585716A>G;NP_002037.2:p.Asp29Gly 16248933 11549361 1496620 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.106C>G;NG_007073.2:g.7080C>G;NP_002037.2:p.Pro36Ala;NM_002046.3:c.106C>G;NT_009759.16:g.6585736C>G;NP_002037.2:p.Pro36Ala 16248942 11549369 1496675 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 NHLBI-ESP 2597 342347982 140793249 ESP2500-chr12-6645738 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 16248891 11549328 1496288 2003.11.18 2003.11.22 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 75315831 11549328 ILMN_Human_1M_rs11549328 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 123434698 11549328 HumanCNV370v1_C_rs11549328 2009.04.15 2009.04.15 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 152990931 11549328 Human610_Quadv1_B_rs11549328-120_T_R_1514276114 2009.06.18 2009.06.19 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 169867257 11549328 HumanCNV370-Quadv3_C_rs11549328-120_T_R_1514276114 2009.10.01 2009.10.02 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 171278025 11549328 Human1M-Duov3_B_rs11549328-120_T_R_1514276114 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.115G>T;NG_007073.2:g.7089G>T;NP_002037.2:p.Asp39Tyr;NM_002046.3:c.115G>T;NT_009759.16:g.6585745G>T;NP_002037.2:p.Asp39Tyr 119686808 11549328 KHS1808289 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 NHLBI-ESP 2597 342347983 142283743 ESP2500-chr12-6645753 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 BUSHMAN 2597 NM_002046.3:c.129+8C>T;NG_007073.2:g.7111C>T;NM_002046.3:c.129+8C>T;NT_009759.16:g.6585767C>T 203501596 113854245 BUSHMAN-chr12-6516027 2010.03.09 2010.03.09 2010.07.04 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.130-19C>T;NG_007073.2:g.7175C>T;NM_002046.3:c.130-19C>T;NT_009759.16:g.6585831C>T 203501600 111532255 BUSHMAN-chr12-6516091 2010.03.09 2010.03.09 2010.07.04 2011.07.08 132 NHLBI-ESP 2597 342347984 151238733 ESP2500-chr12-6645864 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 2597 342347985 139204528 ESP2500-chr12-6645879 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.178G>T;NG_007073.2:g.7242G>T;NP_002037.2:p.Val60Phe;NM_002046.3:c.178G>T;NT_009759.16:g.6585898G>T;NP_002037.2:p.Val60Phe 462674418 11549351 20101123_snps_8841648_chr12_6645898 4.57e-04 Variation due to paralogous sequence differences (PMID: 21030649). 2011.07.20 2011.07.20 2004.02.28 2011.10.06 132 CGAP-GAI 2597 NM_002046.3:c.178G>T;NG_007073.2:g.7242G>T;NP_002037.2:p.Val60Phe;NM_002046.3:c.178G>T;NT_009759.16:g.6585898G>T;NP_002037.2:p.Val60Phe 16248922 11549351 1496533 4.57e-04 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.10.06 132 CGAP-GAI 2597 NM_002046.3:c.189G>T;NG_007073.2:g.7253G>T;NP_002037.2:p.Glu63Asp;NM_002046.3:c.189G>T;NT_009759.16:g.6585909G>T;NP_002037.2:p.Glu63Asp 16248915 11549346 1496469 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.195G>T;NG_007073.2:g.7259G>T;NM_002046.3:c.195G>T;NT_009759.16:g.6585915G>T 16248926 11549355 1496600 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 ILLUMINA 2597 NM_002046.3:c.259T>G;NG_007073.2:g.7452T>G;NP_002037.2:p.Trp87Gly;NM_002046.3:c.259T>G;NT_009759.16:g.6586108T>G;NP_002037.2:p.Trp87Gly 169075693 113341953 Human1M-Duov3_B_GA028643-0_B_F_1533467072 2009.10.01 2009.10.01 2010.07.04 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.264C>T;NG_007073.2:g.7457C>T;NM_002046.3:c.264C>T;NT_009759.16:g.6586113C>T 16248924 11549353 1496555 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 16248886 11549324 1496263 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 75289712 11549324 ILMN_Human_1M_rs11549324 Variation due to paralogous sequence differences (PMID: 21030649). 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 123344251 11549324 HumanCNV370v1_C_rs11549324 Variation due to paralogous sequence differences (PMID: 21030649). 2009.04.15 2009.04.15 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 152990926 11549324 Human610_Quadv1_B_rs11549324-120_B_F_1514241463 Variation due to paralogous sequence differences (PMID: 21030649). 2009.06.18 2009.06.19 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 169867241 11549324 HumanCNV370-Quadv3_C_rs11549324-120_B_F_1514241463 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.01 2009.10.02 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.282C>T;NG_007073.2:g.7475C>T;NM_002046.3:c.282C>T;NT_009759.16:g.6586131C>T 171278016 11549324 Human1M-Duov3_B_rs11549324-120_B_F_1514241463 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 16248893 11549329 1496289 2003.11.18 2003.11.22 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 75292176 11549329 ILMN_Human_1M_rs11549329 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 123149191 11549329 HumanCNV370v1_C_rs11549329 2009.04.15 2009.04.15 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 152990936 11549329 Human610_Quadv1_B_rs11549329-120_B_F_1514241464 2009.06.18 2009.06.19 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 169867268 11549329 HumanCNV370-Quadv3_C_rs11549329-120_B_F_1514241464 2009.10.01 2009.10.02 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 171278034 11549329 Human1M-Duov3_B_rs11549329-120_B_F_1514241464 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.296C>T;NG_007073.2:g.7489C>T;NP_002037.2:p.Thr99Ile;NM_002046.3:c.296C>T;NT_009759.16:g.6586145C>T;NP_002037.2:p.Thr99Ile 119686811 11549329 KHS1808290 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 NHLBI-ESP 2597 342347986 149945423 ESP2500-chr12-6646150 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.303C>T;NG_007073.2:g.7496C>T;NM_002046.3:c.303C>T;NT_009759.16:g.6586152C>T 16248903 11549337 1496364 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.306C>T;NG_007073.2:g.7499C>T;NM_002046.3:c.306C>T;NT_009759.16:g.6586155C>T 16248936 11549363 1496666 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.309C>A;NG_007073.2:g.7502C>A;NM_002046.3:c.309C>A;NT_009759.16:g.6586158C>A;NM_002046.3:c.309C>T;NG_007073.2:g.7502C>T;NM_002046.3:c.309C>T;NT_009759.16:g.6586158C>T 16248919 11266742 1496507 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.27 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.309C>A;NG_007073.2:g.7502C>A;NM_002046.3:c.309C>A;NT_009759.16:g.6586158C>A;NM_002046.3:c.309C>T;NG_007073.2:g.7502C>T;NM_002046.3:c.309C>T;NT_009759.16:g.6586158C>T 16248935 11266742 1496634 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.27 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 16248948 11549374 1496725 2003.11.18 2003.11.22 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 75315345 11549374 ILMN_Human_1M_rs11549374 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 123432989 11549374 HumanCNV370v1_C_rs11549374 2009.04.15 2009.04.15 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 152990944 11549374 Human610_Quadv1_B_rs11549374-120_B_R_1514276115 2009.06.18 2009.06.19 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 169867296 11549374 HumanCNV370-Quadv3_C_rs11549374-120_B_R_1514276115 2009.10.01 2009.10.02 2004.02.28 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 171278052 11549374 Human1M-Duov3_B_rs11549374-120_B_R_1514276115 2009.10.01 2009.10.01 2004.02.28 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.318G>A;NG_007073.2:g.7511G>A;NM_002046.3:c.318G>A;NT_009759.16:g.6586167G>A 119686817 11549374 KHS1808292 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.328G>C;NP_002037.2:p.Ala110Pro 16248885 11549323 1496262 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 1000GENOMES 2597 462674419 188736603 20101123_snps_8841649_chr12_6646194 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 462674420 192121392 20101123_snps_8841650_chr12_6646196 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.328-34C>G;NG_007073.2:g.7577C>G;NM_002046.3:c.328-34C>G;NT_009759.16:g.6586233C>G 113118663 45579041 NA19240_2008_12_16_2406070_chr12_6516494 3.79e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2008.12.18 2008.12.18 2007.05.18 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.328-34C>G;NG_007073.2:g.7577C>G;NM_002046.3:c.328-34C>G;NT_009759.16:g.6586233C>G 225589068 45579041 pilot_1_YRI_7398751_chr12_6516494 3.79e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2010.04.22 2010.04.22 2007.05.18 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.328-34C>G;NG_007073.2:g.7577C>G;NM_002046.3:c.328-34C>G;NT_009759.16:g.6586233C>G 168965995 45579041 NA19240_36_chr12_6516494 3.79e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.01 2009.10.01 2007.05.18 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.328-34C>G;NG_007073.2:g.7577C>G;NM_002046.3:c.328-34C>G;NT_009759.16:g.6586233C>G 70455780 45579041 GAPD-004423 3.79e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2007.04.19 2008.03.31 2007.05.18 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.330T>C;NG_007073.2:g.7613T>C;NM_002046.3:c.330T>C;NT_009759.16:g.6586269T>C;XM_001720521.2:c.489A>G;XP_001720573.2:p.X163TrpextX 16248921 11549350 1496532 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.333T>A;NG_007073.2:g.7616T>A;NP_002037.2:p.His111Gln;NM_002046.3:c.333T>A;NT_009759.16:g.6586272T>A;NP_002037.2:p.His111Gln;XM_001720521.2:c.486A>T;XP_001720573.2:p.Lys162Asn 16248884 11549322 1496261 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.344G>C;NG_007073.2:g.7627G>C;NP_002037.2:p.Gly115Ala;NM_002046.3:c.344G>C;NT_009759.16:g.6586283G>C;NP_002037.2:p.Gly115Ala;NM_002046.3:c.344G>T;NG_007073.2:g.7627G>T;NP_002037.2:p.Gly115Val;NM_002046.3:c.344G>T;NT_009759.16:g.6586283G>T;NP_002037.2:p.Gly115Val;XM_001720521.2:c.475C>A;XP_001720573.2:p.Pro159Thr;XM_001720521.2:c.475C>G;XP_001720573.2:p.Pro159Ala 16248908 11549340 1496401 2003.11.18 2003.11.22 2004.02.28 2011.10.29 132 CGAP-GAI 2597 NM_002046.3:c.344G>C;NG_007073.2:g.7627G>C;NP_002037.2:p.Gly115Ala;NM_002046.3:c.344G>C;NT_009759.16:g.6586283G>C;NP_002037.2:p.Gly115Ala;NM_002046.3:c.344G>T;NG_007073.2:g.7627G>T;NP_002037.2:p.Gly115Val;NM_002046.3:c.344G>T;NT_009759.16:g.6586283G>T;NP_002037.2:p.Gly115Val;XM_001720521.2:c.475C>A;XP_001720573.2:p.Pro159Thr;XM_001720521.2:c.475C>G;XP_001720573.2:p.Pro159Ala 16248937 11549340 1496656 2003.11.18 2003.11.22 2004.02.28 2011.10.29 132 CGAP-GAI 2597 NM_002046.3:c.348C>A;NG_007073.2:g.7631C>A;NM_002046.3:c.348C>A;NT_009759.16:g.6586287C>A;XM_001720521.2:c.471G>T;XP_001720573.2:p.Leu157Phe 16248920 11549349 1496517 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.10.29 132 EGP_SNPS 2597 NM_002046.3:c.348C>A;NG_007073.2:g.7631C>A;NM_002046.3:c.348C>A;NT_009759.16:g.6586287C>A;XM_001720521.2:c.471G>T;XP_001720573.2:p.Leu157Phe 70455781 11549349 GAPD-004477 Variation due to paralogous sequence differences (PMID: 21030649). 2007.04.19 2007.04.19 2004.02.28 2011.10.29 132 CGAP-GAI 2597 NM_002046.3:c.374C>T;NG_007073.2:g.7657C>T;NP_002037.2:p.Ser125Phe;NM_002046.3:c.374C>T;NT_009759.16:g.6586313C>T;NP_002037.2:p.Ser125Phe;XM_001720521.2:c.445G>A;XP_001720573.2:p.Glu149Lys 16248904 11549338 1496368 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 NHLBI-ESP 2597 342347987 146516445 ESP2500-chr12-6646316 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 225589069 1065691 pilot_1_YRI_7398752_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2010.04.22 2010.04.22 2000.10.05 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 235810086 1065691 pilot_1_CEU_5414715_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2010.05.01 2010.05.01 2000.10.05 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 242391526 1065691 pilot_1_CHB+JPT_4276603_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2010.05.01 2010.05.01 2000.10.05 2011.07.08 132 BGI 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 106784420 1065691 BGI_rs1065691 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2008.09.18 2009.10.21 2000.10.05 2011.07.08 132 BUSHMAN 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 203501604 1065691 BUSHMAN-chr12-6516580 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2010.03.09 2010.03.09 2000.10.05 2011.07.08 132 CANCER-GENOME 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 86343657 1065691 12685 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2008.01.25 2008.01.25 2000.10.05 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 16254088 1065691 1507815 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2000.10.05 2011.07.08 132 CGM_KYOTO 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 76877669 1065691 720005 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.09.12 2007.09.12 2000.10.05 2011.07.08 132 CNG 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 95212547 1065691 29940407 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2008.03.13 2008.03.13 2000.10.05 2011.07.08 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 167721040 1065691 NA07022_36_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.09.30 2009.09.30 2000.10.05 2011.07.08 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 168966010 1065691 NA19240_36_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.01 2009.10.01 2000.10.05 2011.07.08 132 EGP_SNPS 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 70455782 1065691 GAPD-004510 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.04.19 2007.08.14 2000.10.05 2011.07.08 132 GMI 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 157060491 1065691 GMI_SNP_275306859 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.06.25 2009.06.25 2000.10.05 2011.07.08 132 HGBASE 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 2424275 1065691 SNP000011654 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2000.11.07 2003.10.10 2000.10.05 2011.07.08 132 HGSV 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 77577923 1065691 Cor12156_SNV_20070510.chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.10.13 2007.10.13 2000.10.05 2011.07.08 132 HGSV 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 78428526 1065691 Cor12878_SNV_20070510.chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.10.19 2007.10.19 2000.10.05 2011.07.08 132 HGSV 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 84089427 1065691 Cor19240_SNV_20070510.chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.12.06 2007.12.06 2000.10.05 2011.07.08 132 ILLUMINA-UK 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 118544899 1065691 NA18507_000009459_NCBI36.1_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.01.21 2009.01.21 2000.10.05 2011.07.08 132 LEE 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 1556575 1065691 1497123 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 LEE 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 4436851 1065691 e1497123 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2002.04.26 2003.10.10 2000.10.05 2011.07.08 132 NHLBI-ESP 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 342347988 1065691 ESP2500-chr12-6646320 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.26 2011.03.26 2000.10.05 2011.07.08 132 PJP 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 291315520 1065691 SNP_821878_chr12_6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2011.01.21 2011.01.21 2000.10.05 2011.07.08 132 SC_SNP 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 15653907 1065691 NT_009759.15_6500581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.17 2003.11.22 2000.10.05 2011.07.08 132 SC_SNP 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 18531520 1065691 SC-CHR9-12_NA11321-200402.chr12.NT_009759.15_6500581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2004.02.20 2004.03.04 2000.10.05 2011.07.08 132 SC_SNP 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 18773331 1065691 SC-CHR9-12_NA17119-200402.chr12.NT_009759.15_6500581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2004.02.20 2004.03.04 2000.10.05 2011.07.08 132 SEATTLESEQ 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 159725488 1065691 GAPDH-6516581 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.07.10 2009.07.10 2000.10.05 2011.07.08 132 SEQUENOM 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 24813663 1065691 sqnm205427 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2004.06.18 2004.06.18 2000.10.05 2011.07.08 132 WICVAR 2597 NM_002046.3:c.381T>C;NG_007073.2:g.7664T>C;NM_002046.3:c.381T>C;NT_009759.16:g.6586320T>C;XM_001720521.2:c.438A>G 3177424 1065691 WI-19315 3.78e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2001.06.28 2004.04.07 2000.10.05 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.396C>T;NG_007073.2:g.7679C>T;NM_002046.3:c.396C>T;NT_009759.16:g.6586335C>T;XM_001720521.2:c.423G>A;XP_001720573.2:p.Met141Ile 16248901 11549336 1496360 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 NHLBI-ESP 2597 342347989 144761391 ESP2500-chr12-6646341 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 ILLUMINA 2597 NM_002046.3:c.421G>A;NG_007073.2:g.7704G>A;NP_002037.2:p.Asp141Asn;NM_002046.3:c.421G>A;NT_009759.16:g.6586360G>A;NP_002037.2:p.Asp141Asn;XM_001720521.2:c.398C>T;XP_001720573.2:p.Ser133Leu 161047613 74407849 HumanOmni1-Quad_v1-0_B_SNP12-6516621-128_B_R_1587221027 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2011.07.08 132 1000GENOMES 2597 337130647 138863602 20100804_snps_8774188_chr12_6646375 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 2597 342347990 138863602 ESP2500-chr12-6646375 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.443+15G>A;NT_009759.16:g.6586397G>A 242391527 117243681 pilot_1_CHB+JPT_4276604_chr12_6516658 4.11e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.458C>T;NG_007073.2:g.7833C>T;NP_002037.2:p.Thr153Ile;NM_002046.3:c.458C>T;NT_009759.16:g.6586489C>T;NP_002037.2:p.Thr153Ile;XM_001720521.2:c.361G>A;XP_001720573.2:p.Val121Met 16248898 11549333 1496345 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 GMI 2597 NM_002046.3:c.481G>T;NG_007073.2:g.7856G>T;NP_002037.2:p.Ala161Ser;NM_002046.3:c.481G>T;NT_009759.16:g.6586512G>T;NP_002037.2:p.Ala161Ser;XM_001720521.2:c.338C>A;XP_001720573.2:p.Ala113Asp 157060498 77154254 GMI_SNP_31059884 2009.06.25 2009.06.25 2009.12.01 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.501C>T;NG_007073.2:g.7876C>T;NM_002046.3:c.501C>T;NT_009759.16:g.6586532C>T;XM_001720521.2:c.318G>A 16248894 11549330 1496292 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.502T>C;NG_007073.2:g.7877T>C;NP_002037.2:p.Phe168Leu;NM_002046.3:c.502T>C;NT_009759.16:g.6586533T>C;NP_002037.2:p.Phe168Leu;XM_001720521.2:c.317A>G;XP_001720573.2:p.Lys106Arg 16248889 11549326 1496274 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.522C>T;NG_007073.2:g.7897C>T;NM_002046.3:c.522C>T;NT_009759.16:g.6586553C>T;XM_001720521.2:c.297G>A;XP_001720573.2:p.Met99Ile 16248911 11549343 1496428 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 1000GENOMES 2597 337130648 143089647 20100804_snps_8774189_chr12_6646605 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674421 182573972 20101123_snps_8841651_chr12_6646622 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ENSEMBL 2597 NM_002046.3:c.526-42G>C;NG_007073.2:g.8052G>C;NM_002046.3:c.526-42G>C;NT_009759.16:g.6586708G>C 132977690 79803823 ENSSNP10545029 2009.05.12 2009.05.14 2009.12.01 2011.07.08 132 ABI 2597 NM_002046.3:c.526-32_526-31insG;NG_007073.2:g.8062_8063insG;NM_002046.3:c.526-32_526-31insG;NT_009759.16:g.6586718_6586719insG 40196579 35043201 hCV34067649 2005.07.16 2005.07.16 2006.03.14 2011.07.08 132 1000GENOMES 2597 462674422 187750764 20101123_snps_8841652_chr12_6646743 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 CGAP-GAI 2597 NM_002046.3:c.596G>C;NG_007073.2:g.8164G>C;NP_002037.2:p.Gly199Ala;NM_002046.3:c.596G>C;NT_009759.16:g.6586820G>C;NP_002037.2:p.Gly199Ala;XM_001720521.2:c.223C>G;XP_001720573.2:p.Pro75Ala 16248918 11549348 1496480 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 16248923 11549352 1496538 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.628T>C;NG_007073.2:g.8196T>C;NP_002037.2:p.Ser210Pro;NM_002046.3:c.628T>C;NT_009759.16:g.6586852T>C;NP_002037.2:p.Ser210Pro;XM_001720521.2:c.191A>G;XP_001720573.2:p.Glu64Gly 16248914 11549345 1496465 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 NHLBI-ESP 2597 342347991 148843886 ESP2500-chr12-6646899 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.696C>T;NG_007073.2:g.8264C>T;NM_002046.3:c.696C>T;NT_009759.16:g.6586920C>T;XM_001720521.2:c.123G>A 16248916 11549347 1496472 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.708C>A;NG_007073.2:g.8276C>A;NM_002046.3:c.708C>A;NT_009759.16:g.6586932C>A;XM_001720521.2:c.111G>T 16248947 11549373 1496733 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 1000GENOMES 2597 462674423 191738457 20101123_snps_8841653_chr12_6646941 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 LEE 2597 NM_002046.3:c.753A>C;NG_007073.2:g.8321A>C;NP_002037.2:p.Lys251Asn;NM_002046.3:c.753A>C;NT_009759.16:g.6586977A>C;NP_002037.2:p.Lys251Asn;XM_001720521.2:c.66T>G 1548445 1062429 998935 Variation due to paralogous sequence differences (PMID: 21030649). 2000.09.13 2007.08.14 2000.10.05 2011.09.09 132 LEE 2597 NM_002046.3:c.753A>C;NG_007073.2:g.8321A>C;NP_002037.2:p.Lys251Asn;NM_002046.3:c.753A>C;NT_009759.16:g.6586977A>C;NP_002037.2:p.Lys251Asn;XM_001720521.2:c.66T>G 4433125 1062429 e998935 Variation due to paralogous sequence differences (PMID: 21030649). 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 SEQUENOM 2597 NM_002046.3:c.753A>C;NG_007073.2:g.8321A>C;NP_002037.2:p.Lys251Asn;NM_002046.3:c.753A>C;NT_009759.16:g.6586977A>C;NP_002037.2:p.Lys251Asn;XM_001720521.2:c.66T>G 24796439 1062429 sqnm140328 Variation due to paralogous sequence differences (PMID: 21030649). 2004.06.18 2004.06.18 2000.10.05 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.797C>T;NG_007073.2:g.8365C>T;NP_002037.2:p.Ser266Leu;NM_002046.3:c.797C>T;NT_009759.16:g.6587021C>T;NP_002037.2:p.Ser266Leu;XM_001720521.2:c.22G>A;XP_001720573.2:p.Asp8Asn 16248872 11549316 1496228 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 LEE 2597 NM_002046.3:c.803G>C;NG_007073.2:g.8371G>C;NP_002037.2:p.Gly268Ala;NM_002046.3:c.803G>C;NT_009759.16:g.6587027G>C;NP_002037.2:p.Gly268Ala;XM_001720521.2:c.16C>G;XP_001720573.2:p.Pro6Ala 1556743 1065740 1499619 Variation due to paralogous sequence differences (PMID: 21030649). 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 NHLBI-ESP 2597 342347992 143455013 ESP2500-chr12-6647030 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 HGBASE 2597 NM_002046.3:c.807C>T;NG_007073.2:g.8375C>T;NM_002046.3:c.807C>T;NT_009759.16:g.6587031C>T;XM_001720521.2:c.12G>A 2424280 1803623 SNP000011659 Variation due to paralogous sequence differences (PMID: 21030649). 2000.11.07 2003.10.10 2000.11.14 2011.07.08 132 LEE 2597 NM_002046.3:c.808C>T;NG_007073.2:g.8376C>T;NP_002037.2:p.Leu270Phe;NM_002046.3:c.808C>T;NT_009759.16:g.6587032C>T;NP_002037.2:p.Leu270Phe;XM_001720521.2:c.11G>A;XP_001720573.2:p.Arg4Lys 1548455 1062436 999263 Variation due to paralogous sequence differences (PMID: 21030649). 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 LEE 2597 NM_002046.3:c.808C>T;NG_007073.2:g.8376C>T;NP_002037.2:p.Leu270Phe;NM_002046.3:c.808C>T;NT_009759.16:g.6587032C>T;NP_002037.2:p.Leu270Phe;XM_001720521.2:c.11G>A;XP_001720573.2:p.Arg4Lys 4433131 1062436 e999263 Variation due to paralogous sequence differences (PMID: 21030649). 2002.04.26 2003.10.10 2000.10.05 2011.07.08 132 LEE 2597 NM_002046.3:c.820C>T;NG_007073.2:g.8388C>T;NM_002046.3:c.820C>T;NT_009759.16:g.6587044C>T;XM_001720521.2:c.-2G>A 4433135 3203507 e999304 Variation due to paralogous sequence differences (PMID: 21030649). 2002.04.26 2003.10.10 2002.05.29 2011.07.08 132 LEE 2597 NM_002046.3:c.828C>A;NG_007073.2:g.8396C>A;NP_002037.2:p.Tyr276X;NM_002046.3:c.828C>A;NT_009759.16:g.6587052C>A;NP_002037.2:p.Tyr276X;XM_001720521.2:c.-10G>T 1548464 1062442 999390 Variation due to paralogous sequence differences (PMID: 21030649). 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 HGBASE 2597 NM_002046.3:c.853G>T;NG_007073.2:g.8421G>T;NP_002037.2:p.Asp285Tyr;NM_002046.3:c.853G>T;NT_009759.16:g.6587077G>T;NP_002037.2:p.Asp285Tyr;XM_001720521.2:c.-35C>A 2424276 1803619 SNP000011655 Variation due to paralogous sequence differences (PMID: 21030649). 2000.11.07 2003.10.10 2000.11.14 2011.07.08 132 NHLBI-ESP 2597 342347993 147970912 ESP2500-chr12-6647088 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.881C>T;NG_007073.2:g.8449C>T;NP_002037.2:p.Thr294Ile;NM_002046.3:c.881C>T;NT_009759.16:g.6587105C>T;NP_002037.2:p.Thr294Ile;XM_001720521.2:c.-63G>A 16248879 1803625 1496249 2003.11.18 2003.11.22 2000.11.14 2011.07.08 132 HGBASE 2597 NM_002046.3:c.881C>T;NG_007073.2:g.8449C>T;NP_002037.2:p.Thr294Ile;NM_002046.3:c.881C>T;NT_009759.16:g.6587105C>T;NP_002037.2:p.Thr294Ile;XM_001720521.2:c.-63G>A 2424282 1803625 SNP000011661 2000.11.07 2003.10.10 2000.11.14 2011.07.08 132 1000GENOMES 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 225589070 1803621 pilot_1_YRI_7398753_chr12_6517370 3.85e-01 2010.04.22 2010.04.22 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 235810087 1803621 pilot_1_CEU_5414716_chr12_6517370 3.85e-01 2010.05.01 2010.05.01 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 242391528 1803621 pilot_1_CHB+JPT_4276605_chr12_6517370 3.85e-01 2010.05.01 2010.05.01 2000.11.14 2011.09.09 132 BGI 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 106784421 1803621 BGI_rs1803621 3.85e-01 2008.09.18 2009.10.21 2000.11.14 2011.09.09 132 BL 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 254847261 1803621 SNP8835_12_6517370 3.85e-01 2010.08.19 2010.08.19 2000.11.14 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 203501608 1803621 BUSHMAN-chr12-6517369 3.85e-01 2010.03.09 2010.03.09 2000.11.14 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 167721056 1803621 NA07022_36_chr12_6517370 3.85e-01 2009.09.30 2009.09.30 2000.11.14 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 168966023 1803621 NA19240_36_chr12_6517370 3.85e-01 2009.10.01 2009.10.01 2000.11.14 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 70455783 1803621 GAPD-005299 3.85e-01 2007.04.19 2007.08.14 2000.11.14 2011.09.09 132 GMI 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 157060506 1803621 GMI_SNP_31368357 3.85e-01 2009.06.25 2009.06.25 2000.11.14 2011.09.09 132 HGBASE 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 2424278 1803621 SNP000011657 3.85e-01 2000.11.07 2003.10.10 2000.11.14 2011.09.09 132 HGSV 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 78452560 1803621 Cor12878_SNV_20070510.chr12_6517370 3.85e-01 2007.10.19 2007.10.19 2000.11.14 2011.09.09 132 HGSV 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 83448247 1803621 Cor18555_SNV_20070510.chr12_6517370 3.85e-01 2007.12.05 2007.12.05 2000.11.14 2011.09.09 132 HGSV 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 83753729 1803621 Cor18956_SNV_20070510.chr12_6517370 3.85e-01 2007.12.05 2007.12.05 2000.11.14 2011.09.09 132 ILLUMINA-UK 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 118544903 1803621 NA18507_000009460_NCBI36.1_chr12_6517370 3.85e-01 2009.01.21 2009.01.21 2000.11.14 2011.09.09 132 LEE 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 4442375 1803621 e2087375 3.85e-01 2002.04.26 2003.10.10 2000.11.14 2011.09.09 132 NHLBI-ESP 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 342347994 1803621 ESP2500-chr12-6647109 3.85e-01 2011.03.26 2011.03.26 2000.11.14 2011.09.09 132 PJP 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 291315521 1803621 SNP_821879_chr12_6517370 3.85e-01 2011.01.21 2011.01.21 2000.11.14 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 16295276 1803621 NT_009759.15_6501370 3.85e-01 2003.11.18 2004.05.17 2000.11.14 2011.09.09 132 SEATTLESEQ 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 159725489 1803621 GAPDH-6517370 3.85e-01 2009.07.10 2009.07.10 2000.11.14 2011.09.09 132 SEQUENOM 2597 NM_002046.3:c.885T>C;NG_007073.2:g.8453T>C;NM_002046.3:c.885T>C;NT_009759.16:g.6587109T>C;XM_001720521.2:c.-67A>G 24815562 1803621 sqnm209999 3.85e-01 2004.06.18 2004.08.05 2000.11.14 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.888C>T;NG_007073.2:g.8456C>T;NM_002046.3:c.888C>T;NT_009759.16:g.6587112C>T;XM_001720521.2:c.-70G>A 16248888 11549325 1496273 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 NHLBI-ESP 2597 342347995 147124315 ESP2500-chr12-6647124 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 2597 342347996 138528853 ESP2500-chr12-6647133 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.927G>T;NG_007073.2:g.8495G>T;NP_002037.2:p.Lys309Asn;NM_002046.3:c.927G>T;NT_009759.16:g.6587151G>T;NP_002037.2:p.Lys309Asn;XM_001720521.2:c.-109C>A 16248899 11549334 1496352 2003.11.18 2003.11.22 2004.02.28 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.938+36G>C;NG_007073.2:g.8542G>C;NM_002046.3:c.938+36G>C;NT_009759.16:g.6587198G>C 337130649 45536836 20100804_snps_8774190_chr12_6647198 7.31e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.22 2011.03.22 2007.05.17 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.938+36G>C;NG_007073.2:g.8542G>C;NM_002046.3:c.938+36G>C;NT_009759.16:g.6587198G>C 70455784 45536836 GAPD-005388 7.31e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 1000GENOMES 2597 462674424 183915268 20101123_snps_8841654_chr12_6647212 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 EGP_SNPS 2597 NM_002046.3:c.939-17_939-16del2;NG_007073.2:g.8594_8595del2;NM_002046.3:c.939-17_939-16del2;NT_009759.16:g.6587250_6587251del2 70455785 45534634 GAPD-005440 Variation due to paralogous sequence differences (PMID: 21030649). 2007.04.19 2008.03.31 2007.05.17 2011.09.09 132 1000GENOMES 2597 327928699 138192447 YRI_chr12_6517513_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674425 187478503 20101123_snps_8841655_chr12_6647261 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 SEQUENOM 2597 NM_002046.3:c.948C>T;NG_007073.2:g.8620C>T;NM_002046.3:c.948C>T;NT_009759.16:g.6587276C>T 24810781 1109 sqnm196346 Variation due to paralogous sequence differences (PMID: 21030649). 2004.06.18 2004.08.05 2000.09.19 2011.10.06 132 WIAF 2597 NM_002046.3:c.948C>T;NG_007073.2:g.8620C>T;NM_002046.3:c.948C>T;NT_009759.16:g.6587276C>T 1134 1109 WIAF-1581 Variation due to paralogous sequence differences (PMID: 21030649). 1999.01.23 2003.12.23 2000.09.19 2011.10.06 132 CGAP-GAI 2597 NM_002046.3:c.965A>T;NG_007073.2:g.8637A>T;NP_002037.2:p.Asn322Ile;NM_002046.3:c.965A>T;NT_009759.16:g.6587293A>T;NP_002037.2:p.Asn322Ile 16248880 11549321 1496251 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.984G>T;NG_007073.2:g.8656G>T;NP_002037.2:p.Met328Ile;NM_002046.3:c.984G>T;NT_009759.16:g.6587312G>T;NP_002037.2:p.Met328Ile 16248881 3211600 1496254 2003.11.18 2003.11.22 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.984G>T;NG_007073.2:g.8656G>T;NP_002037.2:p.Met328Ile;NM_002046.3:c.984G>T;NT_009759.16:g.6587312G>T;NP_002037.2:p.Met328Ile 75257610 3211600 ILMN_Human_1M_rs3211600 2007.08.29 2007.08.29 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.984G>T;NG_007073.2:g.8656G>T;NP_002037.2:p.Met328Ile;NM_002046.3:c.984G>T;NT_009759.16:g.6587312G>T;NP_002037.2:p.Met328Ile 173574573 3211600 Human1M-Duov3_B_rs3211600-120_B_F_1514214353 2009.10.04 2009.10.04 2002.05.29 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.984G>T;NG_007073.2:g.8656G>T;NP_002037.2:p.Met328Ile;NM_002046.3:c.984G>T;NT_009759.16:g.6587312G>T;NP_002037.2:p.Met328Ile 119456328 3211600 KHS1618575 2009.02.04 2009.02.04 2002.05.29 2011.09.09 132 LEE 2597 NM_002046.3:c.984G>T;NG_007073.2:g.8656G>T;NP_002037.2:p.Met328Ile;NM_002046.3:c.984G>T;NT_009759.16:g.6587312G>T;NP_002037.2:p.Met328Ile 4442419 3211600 e2088244 2002.04.26 2003.10.10 2002.05.29 2011.09.09 132 CGAP-GAI 2597 NM_002046.3:c.996C>T;NG_007073.2:g.8668C>T;NM_002046.3:c.996C>T;NT_009759.16:g.6587324C>T 16248945 11549371 1496708 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 LEE 2597 NM_002046.3:c.*6C>T;NG_007073.2:g.8686C>T;NM_002046.3:c.*6C>T;NT_009759.16:g.6587342C>T 4442407 3211592 e2087865 2002.04.26 2003.10.10 2002.05.29 2011.07.08 132 CGAP-GAI 2597 NM_002046.3:c.*14C>T;NG_007073.2:g.8694C>T;NM_002046.3:c.*14C>T;NT_009759.16:g.6587350C>T 16248877 11549320 1496242 2003.11.18 2003.11.22 2004.02.28 2011.07.08 132 BUSHMAN 2597 NM_002046.3:c.*51C>T;NG_007073.2:g.8731C>T;NM_002046.3:c.*51C>T;NT_009759.16:g.6587387C>T 203501611 111385796 BUSHMAN-chr12-6517647 2010.03.09 2010.03.09 2010.07.04 2011.09.09 132 1000GENOMES 2597 337130650 138263904 20100804_snps_8774191_chr12_6647393 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674426 192090590 20101123_snps_8841656_chr12_6647394 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NM_002046.3:c.*94C>T;NG_007073.2:g.8774C>T;NM_002046.3:c.*94C>T;NT_009759.16:g.6587430C>T 462674427 11549319 20101123_snps_8841657_chr12_6647430 4.57e-04 2011.07.20 2011.07.20 2004.02.28 2011.10.06 132 CGAP-GAI 2597 NM_002046.3:c.*94C>T;NG_007073.2:g.8774C>T;NM_002046.3:c.*94C>T;NT_009759.16:g.6587430C>T 16248876 11549319 1496233 4.57e-04 2003.11.18 2003.11.22 2004.02.28 2011.10.06 132 1000GENOMES 2597 337130651 141846451 20100804_snps_8774192_chr12_6647448 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 113118688 1803622 NA19240_2008_12_16_2406073_chr12_6517714 3.73e-01 2008.12.18 2008.12.18 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 210808096 1803622 CEU.trio.3.2010_118358_chr12_6517714 3.73e-01 2010.03.29 2010.03.29 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 225589072 1803622 pilot_1_YRI_7398755_chr12_6517714 3.73e-01 2010.04.22 2010.04.22 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 235810088 1803622 pilot_1_CEU_5414717_chr12_6517714 3.73e-01 2010.05.01 2010.05.01 2000.11.14 2011.09.09 132 1000GENOMES 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 242391529 1803622 pilot_1_CHB+JPT_4276606_chr12_6517714 3.73e-01 2010.05.01 2010.05.01 2000.11.14 2011.09.09 132 BCM_SSAHASNP 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 11042793 1803622 chr12.NT_009759.15_6501714 3.73e-01 2003.07.01 2003.10.10 2000.11.14 2011.09.09 132 BL 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 254847266 1803622 SNP8836_12_6517714 3.73e-01 2010.08.19 2010.08.19 2000.11.14 2011.09.09 132 BUSHMAN 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 203501615 1803622 BUSHMAN-chr12-6517713 3.73e-01 2010.03.09 2010.03.09 2000.11.14 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 167721065 1803622 NA07022_36_chr12_6517714 3.73e-01 2009.09.30 2009.09.30 2000.11.14 2011.09.09 132 COMPLETE_GENOMICS 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 168966042 1803622 NA19240_36_chr12_6517714 3.73e-01 2009.10.01 2009.10.01 2000.11.14 2011.09.09 132 EGP_SNPS 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 70455786 1803622 GAPD-005643 3.73e-01 2007.04.19 2007.08.14 2000.11.14 2011.09.09 132 GMI 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 157060510 1803622 GMI_SNP_146327690 3.73e-01 2009.06.25 2009.06.25 2000.11.14 2011.09.09 132 HGBASE 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 2424279 1803622 SNP000011658 3.73e-01 2000.11.07 2003.10.10 2000.11.14 2011.09.09 132 HGSV 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 83240962 1803622 Cor18555_SNV_20070510.chr12_6517714 3.73e-01 2007.12.04 2007.12.04 2000.11.14 2011.09.09 132 HGSV 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 84011459 1803622 Cor19240_SNV_20070510.chr12_6517714 3.73e-01 2007.12.06 2007.12.06 2000.11.14 2011.09.09 132 ILLUMINA-UK 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 118544908 1803622 NA18507_000009461_NCBI36.1_chr12_6517714 3.73e-01 2009.01.21 2009.01.21 2000.11.14 2011.09.09 132 LEE 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 4442416 1803622 e2088225 3.73e-01 2002.04.26 2003.10.10 2000.11.14 2011.09.09 132 LEE 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 4442420 1803622 e2088246 3.73e-01 2002.04.26 2003.10.10 2000.11.14 2011.09.09 132 PJP 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 291315522 1803622 SNP_821880_chr12_6517714 3.73e-01 2011.01.21 2011.01.21 2000.11.14 2011.09.09 132 SC_SNP 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 15652504 1803622 NT_009759.15_6501714 3.73e-01 2003.11.17 2003.11.22 2000.11.14 2011.09.09 132 SEQUENOM 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 24815568 1803622 sqnm210019 3.73e-01 2004.06.18 2004.08.05 2000.11.14 2011.09.09 132 WICVAR 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 3177425 1803622 WI-19316 3.73e-01 2001.06.28 2004.04.07 2000.11.14 2011.09.09 132 YUSUKE 2597 NM_002046.3:c.*117G>T;NG_007073.2:g.8797G>T;NM_002046.3:c.*117G>T;NT_009759.16:g.6587453G>T 2984011 1803622 IMS-JST005638 3.73e-01 2001.05.24 2006.10.25 2000.11.14 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 75313181 3211598 ILMN_Human_1M_rs3211598 2007.08.29 2007.08.29 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 123425788 3211598 HumanCNV370v1_C_rs3211598 2009.04.15 2009.04.15 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 154256865 3211598 Human610_Quadv1_B_rs3211598-105_B_R_1514284098 2009.06.20 2009.06.20 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 171561424 3211598 HumanCNV370-Quadv3_C_rs3211598-105_B_R_1514284098 2009.10.01 2009.10.04 2002.05.29 2011.09.09 132 ILLUMINA 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 173574569 3211598 Human1M-Duov3_B_rs3211598-105_B_R_1514284098 2009.10.04 2009.10.04 2002.05.29 2011.09.09 132 KRIBB_YJKIM 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 119456327 3211598 KHS1618574 2009.02.04 2009.02.04 2002.05.29 2011.09.09 132 LEE 2597 NM_002046.3:c.*136G>A;NG_007073.2:g.8816G>A;NM_002046.3:c.*136G>A;NT_009759.16:g.6587472G>A 4442417 3211598 e2088228 2002.04.26 2003.10.10 2002.05.29 2011.09.09 132 LEE 2597 NM_002046.3:c.*160A>C;NG_007073.2:g.8840A>C;NM_002046.3:c.*160A>C;NT_009759.16:g.6587496A>C 4442418 3211599 e2088231 Variation due to paralogous sequence differences (PMID: 21030649). 2002.04.26 2003.10.10 2002.05.29 2011.07.08 132 BUSHMAN 2597 NG_007073.2:g.8881A>T;NT_009759.16:g.6587537A>T 203501619 112433978 BUSHMAN-chr12-6517797 2010.03.09 2010.03.09 2010.07.04 2011.10.29 132 ILLUMINA 2597 NG_007073.2:g.8881A>T;NT_009759.16:g.6587537A>T 168946243 112433978 Human1M-Duov3_B_GA010483-0_B_R_1533433678 2009.10.01 2009.10.01 2010.07.04 2011.10.29 132 ABI 2597 NG_007073.2:g.8888_8889insT;NT_009759.16:g.6587544_6587545insT 40104341 34277306 hCV34067648 2005.07.16 2005.07.16 2006.03.13 2011.07.08 132 1000GENOMES 2597 337130652 150626648 20100804_snps_8774193_chr12_6647567 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 337130653 139973718 20100804_snps_8774194_chr12_6647615 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 337130654 149439492 20100804_snps_8774195_chr12_6647624 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 337130655 146357623 20100804_snps_8774196_chr12_6647636 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2597 NT_009759.16:g.6587704C>T 225589073 115624253 pilot_1_YRI_7398756_chr12_6517965 1.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 2597 462674428 190436145 20101123_snps_8841658_chr12_6647726 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 327928704 146365535 YRI_chr12_6518010_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2597 462674429 182208135 20101123_snps_8841659_chr12_6647770 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 235810090 12425927 pilot_1_CEU_5414719_chr12_6518089 6.35e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 132 BCMHGSC_JDW 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 88939220 12425927 JWB-0512786 6.35e-02 2008.02.28 2008.02.28 2004.02.28 2011.09.09 132 COMPLETE_GENOMICS 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 170331893 12425927 NA20431_36_chr12_6518089 6.35e-02 2009.10.01 2009.10.05 2004.02.28 2011.09.09 132 CSHL-HAPMAP 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 19249881 12425927 CSHL-HuDD-200402.chr12.NT_009759.15_6502089 6.35e-02 2004.02.20 2004.03.04 2004.02.28 2011.09.09 132 ENSEMBL 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 132977693 12425927 ENSSNP10545030 6.35e-02 2009.05.12 2009.05.14 2004.02.28 2011.09.09 132 ENSEMBL 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 161542163 12425927 ENSSNP774106 6.35e-02 2009.09.25 2010.03.07 2004.02.28 2011.09.09 132 PJP 2597 NG_007073.2:g.9172A>G;NT_009759.16:g.6587828A>G 291315523 12425927 SNP_821881_chr12_6518089 6.35e-02 2011.01.21 2011.01.21 2004.02.28 2011.09.09 132 1000GENOMES 2597 462674430 184436622 20101123_snps_8841660_chr12_6647866 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 2597 NG_007073.2:g.9215T>C;NT_009759.16:g.6587871T>C 203501623 111762625 BUSHMAN-chr12-6518131 2010.03.09 2010.03.09 2010.07.04 2011.09.09 132 1000GENOMES 2597 327928706 144522128 YRI_chr12_6518143_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2597 NG_007073.2:g.9298G>A;NT_009759.16:g.6587954G>A 225589074 7977806 pilot_1_YRI_7398757_chr12_6518215 1.69e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 BUSHMAN 2597 NG_007073.2:g.9298G>A;NT_009759.16:g.6587954G>A 203501627 7977806 BUSHMAN-chr12-6518214 1.69e-02 2010.03.09 2010.03.09 2003.07.11 2011.09.09 132 WI_SSAHASNP 2597 NG_007073.2:g.9298G>A;NT_009759.16:g.6587954G>A 12221894 7977806 chr12.NT_009759.15_6502215 1.69e-02 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2597 462674431 188155483 20101123_snps_8841661_chr12_6647975 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 # Report date: 2012.1.24, Gene: GAPDH (2597), ss count: 527, rs count: 194.