# 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 51067 NC_000012.11:g.32899194C>T;NG_028122.1:g.14694G>A;NM_001040436.2:c.*944G>A 462792389 185808313 20101123_snps_8959619_chr12_32899194 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 51067 NC_000012.11:g.32899202delT;NG_028122.1:g.14686delA;NM_001040436.2:c.*936delA 289121568 144963354 GMI_AK_INDEL_795076 1.28e-01 2010.12.27 2011.12.28 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899202delT;NG_028122.1:g.14686delA;NM_001040436.2:c.*936delA 327426689 144963354 JPTCHB_chr12_32790468_indel 1.28e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899202delT;NG_028122.1:g.14686delA;NM_001040436.2:c.*936delA 327520140 144963354 CEU_chr12_32790468_indel 1.28e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899202delT;NG_028122.1:g.14686delA;NM_001040436.2:c.*936delA 327958908 144963354 YRI_chr12_32790468_indel 1.28e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899202delT;NG_028122.1:g.14686delA;NM_001040436.2:c.*936delA 499715518 144963354 20110316_indels_chr12_32899201_32899201 1.28e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899279C>T;NG_028122.1:g.14609G>A;NM_001040436.2:c.*859G>A 225690350 115931694 pilot_1_YRI_7500033_chr12_32790546 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 SSAHASNP 51067 NC_000012.11:g.32899303C>T;NG_028122.1:g.14585G>A;NM_001040436.2:c.*835G>A 20975482 12832019 WGSA-200403-chr12.chr12.NT_009714.16_25658277 variation has been flagged as failed by submitter 2004.03.19 2004.03.19 2004.04.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899303C>T;NG_028122.1:g.14585G>A;NM_001040436.2:c.*835G>A 160302010 12832019 HumanOmni1-Quad_v1-0_B_rs12832019-128_B_F_1577099441 variation has been flagged as failed by submitter 2009.08.06 2009.10.02 2004.04.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899303C>T;NG_028122.1:g.14585G>A;NM_001040436.2:c.*835G>A 480424869 12832019 HumanOmni1-Quad_v1-0_C_rs12832019-128_B_F_1859001122 variation has been flagged as failed by submitter 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899311_32899312insA;NG_028122.1:g.14576_14577insT;NM_001040436.2:c.*826_*827insT 499715522 200945147 20110316_indels_chr12_32899311_32899312 6.90e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 YUSUKE 51067 NC_000012.11:g.32899457C>G;NG_028122.1:g.14431G>C;NM_001040436.2:c.*681G>C 4948141 3762106 IMS-JST115765 1.19e-01 2002.08.07 2006.10.25 2002.08.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32899457C>G;NG_028122.1:g.14431G>C;NM_001040436.2:c.*681G>C 281342129 3762106 GMI_AK_SNP_5662518 1.19e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899457C>G;NG_028122.1:g.14431G>C;NM_001040436.2:c.*681G>C 462792390 3762106 20101123_snps_8959620_chr12_32899457 1.19e-01 2011.07.20 2011.07.20 2002.08.28 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32899458C>T;NG_028122.1:g.14430G>A;NM_001040436.2:c.*680G>A 118699742 74405868 NA18507_000044238_NCBI36.1_chr12_32790725 2009.01.21 2009.01.21 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32899458C>T;NG_028122.1:g.14430G>A;NM_001040436.2:c.*680G>A 170716485 74405868 NA20431_36_chr12_32790725 2009.10.01 2009.10.05 2009.12.01 2011.09.09 137 BUSHMAN 51067 NC_000012.11:g.32899458C>T;NG_028122.1:g.14430G>A;NM_001040436.2:c.*680G>A 197991272 74405868 BUSHMAN-chr12-32790724 2010.03.05 2010.03.05 2009.12.01 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32899458C>T;NG_028122.1:g.14430G>A;NM_001040436.2:c.*680G>A 210814230 74405868 CEU.trio.3.2010_120340_chr12_32790725 2010.03.29 2010.03.29 2009.12.01 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32899458_32899460delCTT;NG_028122.1:g.14428_14430delAAG;NM_001040436.2:c.*678_*680delAAG 327958911 150440082 YRI_chr12_32790724_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 SC_SNP 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 18301666 11052214 SC-CHR1_NA07340-200402.chr12.NT_009714.16_25658469 1.29e-01 2004.02.20 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 18780277 11052214 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25658469 1.29e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 66198563 11052214 SNP_A-2275624 1.29e-01 2006.10.27 2008.03.31 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 76283320 11052214 AFFY_6_1M_SNP_A-2275624 1.29e-01 2007.08.30 2010.03.07 2004.02.27 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 82837944 11052214 KHS336072 1.29e-01 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 111765295 11052214 CEU.trio.12.15.2008_2713583_chr12_32790762 1.29e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 113389331 11052214 NA19240_2008_12_16_2440112_chr12_32790762 1.29e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 118699747 11052214 NA18507_000044239_NCBI36.1_chr12_32790762 1.29e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 169540589 11052214 NA19240_36_chr12_32790762 1.29e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 170716494 11052214 NA20431_36_chr12_32790762 1.29e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 197991277 11052214 BUSHMAN-chr12-32790761 1.29e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 225690351 11052214 pilot_1_YRI_7500034_chr12_32790762 1.29e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 235890849 11052214 pilot_1_CEU_5495478_chr12_32790762 1.29e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 242456561 11052214 pilot_1_CHB+JPT_4341638_chr12_32790762 1.29e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32899495C>T;NG_028122.1:g.14393G>A;NM_001040436.2:c.*643G>A 281342130 11052214 GMI_AK_SNP_5662519 1.29e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899669G>A;NG_028122.1:g.14219C>T;NM_001040436.2:c.*469C>T 462792391 182429712 20101123_snps_8959621_chr12_32899669 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32899674G>A;NG_028122.1:g.14214C>T;NM_001040436.2:c.*464C>T 462792392 186063958 20101123_snps_8959622_chr12_32899674 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32899732G>A;NG_028122.1:g.14156C>T;NM_001040436.2:c.*406C>T 337259370 145618550 20100804_snps_8902911_chr12_32899732 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PJP 51067 NC_000012.11:g.32899879delT;NG_028122.1:g.14009delA;NM_001040436.2:c.*259delA 294745833 140325584 DIP_183537_chr12_32791149 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 SC_SNP 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 15641645 10844337 NT_009714.16_25658903 1.41e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 18301671 10844337 SC-CHR1_NA07340-200402.chr12.NT_009714.16_25658903 1.41e-01 2004.02.20 2008.03.31 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 18780882 10844337 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25658903 1.41e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 24368397 10844337 afd2027685 1.41e-01 2004.08.21 2004.09.13 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 65736653 10844337 Human1-rs10844337 1.41e-01 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 66095156 10844337 SNP_A-1958764 1.41e-01 2006.10.27 2008.03.31 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 76054573 10844337 AFFY_6_1M_SNP_A-1958764 1.41e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 79771346 10844337 Cor18507_SNV_20070510.chr12_32791196 1.41e-01 2007.11.23 2007.11.23 2004.02.27 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 82780932 10844337 KHS324044 1.41e-01 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 111765310 10844337 CEU.trio.12.15.2008_2713585_chr12_32791196 1.41e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 113389341 10844337 NA19240_2008_12_16_2440113_chr12_32791196 1.41e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 118699750 10844337 NA18507_000044240_NCBI36.1_chr12_32791196 1.41e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 169540605 10844337 NA19240_36_chr12_32791196 1.41e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 170716503 10844337 NA20431_36_chr12_32791196 1.41e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 172339169 10844337 GenomeWideSNP_5_SNP_A-1958764 1.41e-01 2009.10.02 2009.10.02 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 197991282 10844337 BUSHMAN-chr12-32791195 1.41e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 225690352 10844337 pilot_1_YRI_7500035_chr12_32791196 1.41e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 235890851 10844337 pilot_1_CEU_5495480_chr12_32791196 1.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 242456562 10844337 pilot_1_CHB+JPT_4341639_chr12_32791196 1.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 281342131 10844337 GMI_AK_SNP_5662520 1.41e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 51067 NC_000012.11:g.32899929C>G;NG_028122.1:g.13959G>C;NM_001040436.2:c.*209G>C 291417551 10844337 SNP_923909_chr12_32791196 1.41e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899947A>G;NG_028122.1:g.13941T>C;NM_001040436.2:c.*191T>C 337259371 144235100 20100804_snps_8902912_chr12_32899947 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 15646690 11052215 NT_009714.16_25658950 8.70e-03 2003.11.17 2006.10.25 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 18735735 11052215 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25658950 8.70e-03 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 75019775 11052215 ILMN_Human_1M_rs11052215 8.70e-03 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 80565378 11052215 Cor18507_SNV_20070510.chr12_32791243 8.70e-03 2007.11.26 2007.11.26 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 118699755 11052215 NA18507_000044241_NCBI36.1_chr12_32791243 8.70e-03 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 119662509 11052215 KHS1799243 8.70e-03 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 159951917 11052215 HumanOmni1-Quad_v1-0_B_rs11052215-128_T_R_1513985733 8.70e-03 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 170963438 11052215 Human1M-Duov3_B_rs11052215-128_T_R_1513985733 8.70e-03 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 211266503 11052215 YRI.trio.3.2010_1093555_chr12_32791243 8.70e-03 2010.03.30 2010.03.30 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 225690353 11052215 pilot_1_YRI_7500036_chr12_32791243 8.70e-03 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 479444566 11052215 HumanOmni2.5-4v1_B_rs11052215-128_T_R_1513985733 8.70e-03 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 479448394 11052215 HumanOmniExpress-12v1_C_rs11052215-131_T_R_1857212454 8.70e-03 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 479873681 11052215 HumanOmni1-Quad_v1-0_C_rs11052215-131_T_R_1865409270 8.70e-03 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 481802020 11052215 HumanOmni2.5-4v1_D_kgp19065258-0_T_R_1829919761 8.70e-03 2012.02.01 2012.02.01 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 483056690 11052215 HumanOmni2.5-4v1_B_SNP12-32791243-0_T_R_1639310425 8.70e-03 2012.02.02 2012.02.02 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32899976T>C;NG_028122.1:g.13912A>G;NM_001040436.2:c.*162A>G 484522071 11052215 HumanOmni2.5-4v1_D_rs11052215-131_T_R_1857212454 8.70e-03 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32899996A>G;NG_028122.1:g.13892T>C;NM_001040436.2:c.*142T>C 462792393 190589666 20101123_snps_8959623_chr12_32899996 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32900011_32900012delCT;NG_028122.1:g.13876_13877delAG;NM_001040436.2:c.*126_*127delAG 327520142 141873255 CEU_chr12_32791277_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32900057C>G;NG_028122.1:g.13831G>C;NM_001040436.2:c.*81G>C 462792394 184116673 20101123_snps_8959624_chr12_32900057 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 51067 NC_000012.11:g.32900073A>G;NG_028122.1:g.13815T>C;NM_001040436.2:c.*65T>C 197991287 113943213 BUSHMAN-chr12-32791339 9.00e-04 2010.03.05 2010.03.05 2010.07.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900073A>G;NG_028122.1:g.13815T>C;NM_001040436.2:c.*65T>C 462792395 113943213 20101123_snps_8959625_chr12_32900073 9.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900216T>C;NG_028122.1:g.13672A>G;NM_001040436.2:c.1356A>G;NP_001035526.1:p.Gln452= 337259372 148729348 20100804_snps_8902913_chr12_32900216 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32900216T>C;NG_028122.1:g.13672A>G;NM_001040436.2:c.1356A>G;NP_001035526.1:p.Gln452= 342352847 148729348 ESP2500-chr12-32900216 6.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900216T>C;NG_028122.1:g.13672A>G;NM_001040436.2:c.1356A>G;NP_001035526.1:p.Gln452= 491039682 148729348 20110521_exome_547480_chr12_32900216 6.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32900362G>A;NG_028122.1:g.13526C>T;NM_001040436.2:c.1275-65C>T 15513000 11052216 NT_009714.16_25659336 2003.11.14 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32900362G>A;NG_028122.1:g.13526C>T;NM_001040436.2:c.1275-65C>T 18996552 11052216 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25659336 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900419G>A;NG_028122.1:g.13469C>T;NM_001040436.2:c.1275-122C>T 462792396 190620111 20101123_snps_8959626_chr12_32900419 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 4976349 3789979 IMS-JST147117 3.48e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 BCM_SSAHASNP 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 11042308 3789979 chr12.NT_009714.15_25659594 3.48e-01 2003.07.01 2003.10.10 2002.08.28 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 15982173 3789979 NT_009714.16_25659594 3.48e-01 2003.11.18 2003.11.22 2002.08.28 2012.11.28 137 ABI 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 40271659 3789979 hCV12105101 3.48e-01 2005.07.16 2005.07.16 2002.08.28 2012.11.28 137 HGSV 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 80021251 3789979 Cor18507_SNV_20070510.chr12_32791887 3.48e-01 2007.11.24 2007.11.24 2002.08.28 2012.11.28 137 HGSV 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 83940320 3789979 Cor19240_SNV_20070510.chr12_32791887 3.48e-01 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 97300091 3789979 1103649411212 3.48e-01 2008.03.28 2008.03.28 2002.08.28 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 132112999 3789979 ENSSNP731547 3.48e-01 2009.05.11 2009.10.14 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 168103167 3789979 NA07022_36_chr12_32791887 3.48e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 197991292 3789979 BUSHMAN-chr12-32791886 3.48e-01 2010.03.05 2010.03.05 2002.08.28 2012.11.28 137 BL 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 255014642 3789979 SNP42187_12_32791887 3.48e-01 2010.08.20 2010.08.20 2002.08.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 281342132 3789979 GMI_AK_SNP_5662521 3.48e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 291417552 3789979 SNP_923910_chr12_32791887 3.48e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900620T>C;NG_028122.1:g.13268A>G;NM_001040436.2:c.1275-323A>G 337259373 3789979 20100804_snps_8902914_chr12_32900620 3.48e-01 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32900621G>A;NG_028122.1:g.13267C>T;NM_001040436.2:c.1275-324C>T 15994086 11052217 NT_009714.16_25659595 1.27e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32900621G>A;NG_028122.1:g.13267C>T;NM_001040436.2:c.1275-324C>T 18996772 11052217 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25659595 1.27e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32900621G>A;NG_028122.1:g.13267C>T;NM_001040436.2:c.1275-324C>T 281342133 11052217 GMI_AK_SNP_5662522 1.27e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32900621G>A;NG_028122.1:g.13267C>T;NM_001040436.2:c.1275-324C>T 337259374 11052217 20100804_snps_8902915_chr12_32900621 1.27e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 ABI 51067 NC_000012.11:g.32900666C>T;NG_028122.1:g.13222G>A;NM_001040436.2:c.1275-369G>A 40237253 35931581 hCV12105102 2005.07.16 2005.07.16 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 51067 NC_000012.11:g.32900666C>T;NG_028122.1:g.13222G>A;NM_001040436.2:c.1275-369G>A 97300092 35931581 1103649411213 2008.03.28 2008.03.28 2006.03.15 2011.09.09 137 ENSEMBL 51067 NC_000012.11:g.32900666C>T;NG_028122.1:g.13222G>A;NM_001040436.2:c.1275-369G>A 132113004 35931581 ENSSNP731548 2009.05.11 2009.10.14 2006.03.15 2011.09.09 137 PJP 51067 NC_000012.11:g.32900666C>T;NG_028122.1:g.13222G>A;NM_001040436.2:c.1275-369G>A 291417553 35931581 SNP_923911_chr12_32791933 2011.01.21 2011.01.21 2006.03.15 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32900988C>T;NG_028122.1:g.12900G>A;NM_001040436.2:c.1275-691G>A 462792397 182842576 20101123_snps_8959627_chr12_32900988 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32901048A>T;NG_028122.1:g.12840T>A;NM_001040436.2:c.1275-751T>A 225690354 76765178 pilot_1_YRI_7500037_chr12_32792315 1.24e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32901119G>A;NG_028122.1:g.12769C>T;NM_001040436.2:c.1275-822C>T 225690355 74810251 pilot_1_YRI_7500038_chr12_32792386 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32901131G>A;NG_028122.1:g.12757C>T;NM_001040436.2:c.1275-834C>T 462792398 187166650 20101123_snps_8959628_chr12_32901131 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32901140C>T;NG_028122.1:g.12748G>A;NM_001040436.2:c.1275-843G>A 337259375 140593121 20100804_snps_8902916_chr12_32901140 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32901268C>A;NG_028122.1:g.12620G>T;NM_001040436.2:c.1275-971G>T 225690356 115511637 pilot_1_YRI_7500039_chr12_32792535 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32901317T>G;NG_028122.1:g.12571A>C;NM_001040436.2:c.1275-1020A>C 225690357 77813126 pilot_1_YRI_7500040_chr12_32792584 1.24e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32901325C>T;NG_028122.1:g.12563G>A;NM_001040436.2:c.1275-1028G>A 462792399 191668145 20101123_snps_8959629_chr12_32901325 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 3046894 2124151 TSC1130554 1.28e-01 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 TSC-CSHL 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 5222712 2124151 TSC1157860 1.28e-01 2002.09.20 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 5667188 2124151 NT_033256.2_1219911 1.28e-01 2003.01.10 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 15923251 2124151 NT_009714.16_25660381 1.28e-01 2003.11.17 2003.11.22 2001.06.15 2012.11.28 137 ABI 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 40261375 2124151 hCV16131689 1.28e-01 2005.07.16 2005.07.16 2001.06.15 2012.11.28 137 HGSV 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 84566806 2124151 Cor19240_SNV_20070510.chr12_32792674 1.28e-01 2007.12.07 2007.12.07 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 111765326 2124151 CEU.trio.12.15.2008_2713587_chr12_32792674 1.28e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 113389355 2124151 NA19240_2008_12_16_2440115_chr12_32792674 1.28e-01 2008.12.18 2008.12.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 118699757 2124151 NA18507_000044242_NCBI36.1_chr12_32792674 1.28e-01 2009.01.21 2009.01.21 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 169540621 2124151 NA19240_36_chr12_32792674 1.28e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 170716512 2124151 NA20431_36_chr12_32792674 1.28e-01 2009.10.01 2009.10.05 2001.06.15 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 197991297 2124151 BUSHMAN-chr12-32792673 1.28e-01 2010.03.05 2010.03.05 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 225690358 2124151 pilot_1_YRI_7500041_chr12_32792674 1.28e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 235890853 2124151 pilot_1_CEU_5495482_chr12_32792674 1.28e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 242456563 2124151 pilot_1_CHB+JPT_4341640_chr12_32792674 1.28e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 51067 NC_000012.11:g.32901407A>G;NG_028122.1:g.12481T>C;NM_001040436.2:c.1275-1110T>C 281342134 2124151 GMI_AK_SNP_5662523 1.28e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32901410A>T;NG_028122.1:g.12478T>A;NM_001040436.2:c.1275-1113T>A 133093045 77501969 ENSSNP10584072 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 TSC-CSHL 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 3046893 2124150 TSC1130553 1.40e-01 2001.06.07 2004.04.07 2001.06.15 2012.11.28 137 TSC-CSHL 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 5222713 2124150 TSC1157861 1.40e-01 2002.09.20 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 15820225 2124150 NT_009714.16_25660539 1.40e-01 2003.11.17 2003.11.22 2001.06.15 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 24368404 2124150 afd2027683 1.40e-01 2004.08.21 2004.09.13 2001.06.15 2012.11.28 137 ABI 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 38970847 2124150 hCV16131693 1.40e-01 2005.07.16 2005.07.16 2001.06.15 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 69106515 2124150 PGP02027683 1.40e-01 2007.01.30 2007.08.14 2001.06.15 2012.11.28 137 HGSV 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 85561603 2124150 Cor18517_SNV_20070510.chr12_32792832 1.40e-01 2007.12.09 2007.12.09 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 111765334 2124150 CEU.trio.12.15.2008_2713588_chr12_32792832 1.40e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 113389364 2124150 NA19240_2008_12_16_2440116_chr12_32792832 1.40e-01 2008.12.18 2008.12.18 2001.06.15 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 118699762 2124150 NA18507_000044243_NCBI36.1_chr12_32792832 1.40e-01 2009.01.21 2009.01.21 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 169540639 2124150 NA19240_36_chr12_32792832 1.40e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 197991302 2124150 BUSHMAN-chr12-32792831 1.40e-01 2010.03.05 2010.03.05 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 225690359 2124150 pilot_1_YRI_7500042_chr12_32792832 1.40e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 235890854 2124150 pilot_1_CEU_5495483_chr12_32792832 1.40e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 281342135 2124150 GMI_AK_SNP_5662524 1.40e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 51067 NC_000012.11:g.32901565C>T;NG_028122.1:g.12323G>A;NM_001040436.2:c.1275-1268G>A 291417554 2124150 SNP_923912_chr12_32792832 1.40e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 ABI 51067 NC_000012.11:g.32901567_32901568insG;NG_028122.1:g.12320_12321insC;NM_001040436.2:c.1275-1271_1275-1270insC 40112912 34894086 hCV33717248 2005.07.16 2005.07.16 2006.03.14 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32901580C>T;NG_028122.1:g.12308G>A;NM_001040436.2:c.1275-1283G>A 462792400 184565731 20101123_snps_8959630_chr12_32901580 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32901661C>T;NG_028122.1:g.12227G>A;NM_001040436.2:c.1274+1210G>A 462792401 187908220 20101123_snps_8959631_chr12_32901661 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32901683G>T;NG_028122.1:g.12205C>A;NM_001040436.2:c.1274+1188C>A 462792402 192187715 20101123_snps_8959632_chr12_32901683 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 51067 NC_000012.11:g.32901737_32901738insAAC;NG_028122.1:g.12150_12151insGTT;NM_001040436.2:c.1274+1133_1274+1134insGTT 289121569 147509033 GMI_AK_INDEL_795077 1.41e-01 2010.12.27 2011.12.28 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901737_32901738insAAC;NG_028122.1:g.12150_12151insGTT;NM_001040436.2:c.1274+1133_1274+1134insGTT 327426690 147509033 JPTCHB_chr12_32793004_indel 1.41e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901737_32901738insAAC;NG_028122.1:g.12150_12151insGTT;NM_001040436.2:c.1274+1133_1274+1134insGTT 327520146 147509033 CEU_chr12_32793004_indel 1.41e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901737_32901738insAAC;NG_028122.1:g.12150_12151insGTT;NM_001040436.2:c.1274+1133_1274+1134insGTT 327958914 147509033 YRI_chr12_32793004_indel 1.41e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32901737_32901738insAAC;NG_028122.1:g.12150_12151insGTT;NM_001040436.2:c.1274+1133_1274+1134insGTT 499715526 147509033 20110316_indels_chr12_32901737_32901738 1.41e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 HGSV 51067 NC_000012.11:g.32901743_32901744insAAC;NG_028122.1:g.12144_12145insGTT;NM_001040436.2:c.1274+1127_1274+1128insGTT 83256762 60950446 Cor18517_DIV_20070510.chr12_32793010-32793011_1 2007.12.04 2007.12.04 2007.12.16 2011.07.08 137 HGSV 51067 NC_000012.11:g.32901743_32901744insAAC;NG_028122.1:g.12144_12145insGTT;NM_001040436.2:c.1274+1127_1274+1128insGTT 83435596 60950446 Cor18517_DIV_20070510.chr12_32793010-32793011_2 2007.12.05 2007.12.05 2007.12.16 2011.07.08 137 DEVINE_LAB 51067 NC_000012.11:g.32901738_32901739insAAC;NG_028122.1:g.12149_12150insGTT;NM_001040436.2:c.1274+1132_1274+1133insGTT 100056334 67676942 INDEL_GP36_2008a_1067921_0 2008.05.16 2008.05.16 2009.02.06 2012.12.04 137 DEVINE_LAB 51067 NC_000012.11:g.32901738_32901739insAAC;NG_028122.1:g.12149_12150insGTT;NM_001040436.2:c.1274+1132_1274+1133insGTT 100056337 67676942 INDEL_GP36_2008a_1067921_1 2008.05.16 2008.05.16 2009.02.06 2012.12.04 137 1000GENOMES 51067 NC_000012.11:g.32901769G>A;NG_028122.1:g.12119C>T;NM_001040436.2:c.1274+1102C>T 462792403 185770511 20101123_snps_8959633_chr12_32901769 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 51067 NC_000012.11:g.32901802G>A;NG_028122.1:g.12086C>T;NM_001040436.2:c.1274+1069C>T 85932215 60993435 Cor18517_SNV_20070510.chr12_32793069 1.05e-02 2007.12.10 2007.12.10 2007.12.16 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32901802G>A;NG_028122.1:g.12086C>T;NM_001040436.2:c.1274+1069C>T 225690361 60993435 pilot_1_YRI_7500044_chr12_32793069 1.05e-02 2010.04.22 2010.04.22 2007.12.16 2011.07.08 137 PJP 51067 NC_000012.11:g.32901816delA;NG_028122.1:g.12072delT;NM_001040436.2:c.1274+1055delT 294745835 146581782 DIP_183539_chr12_32793083 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32902027C>G;NG_028122.1:g.11861G>C;NM_001040436.2:c.1274+844G>C 462792404 189378751 20101123_snps_8959634_chr12_32902027 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 51067 NC_000012.11:g.32902044C>T;NG_028122.1:g.11844G>A;NM_001040436.2:c.1274+827G>A 85525054 61043177 Cor18517_SNV_20070510.chr12_32793311 1.37e-02 2007.12.09 2007.12.09 2007.12.16 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902044C>T;NG_028122.1:g.11844G>A;NM_001040436.2:c.1274+827G>A 225690362 61043177 pilot_1_YRI_7500045_chr12_32793311 1.37e-02 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902072C>T;NG_028122.1:g.11816G>A;NM_001040436.2:c.1274+799G>A 462792405 181707491 20101123_snps_8959635_chr12_32902072 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902219T>C;NG_028122.1:g.11669A>G;NM_001040436.2:c.1274+652A>G 462792406 184485183 20101123_snps_8959636_chr12_32902219 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 15646691 10771988 NT_009714.16_25661199 1.28e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 17467352 10771988 CSHL-HuCC-200402.chr12.NT_009714.16_25661199 1.28e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 18770021 10771988 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25661199 1.28e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 18984636 10771988 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25661199 1.28e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 82863628 10771988 Cor19240_SNV_20070510.chr12_32793492 1.28e-01 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 113389370 10771988 NA19240_2008_12_16_2440117_chr12_32793492 1.28e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 118699767 10771988 NA18507_000044244_NCBI36.1_chr12_32793492 1.28e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 159918144 10771988 HumanOmni1-Quad_v1-0_B_rs10771988-128_T_R_1579657406 1.28e-01 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 169540653 10771988 NA19240_36_chr12_32793492 1.28e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 170716524 10771988 NA20431_36_chr12_32793492 1.28e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 197991307 10771988 BUSHMAN-chr12-32793491 1.28e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 210814233 10771988 CEU.trio.3.2010_120341_chr12_32793492 1.28e-01 2010.03.29 2010.03.29 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 225690363 10771988 pilot_1_YRI_7500046_chr12_32793492 1.28e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 235890855 10771988 pilot_1_CEU_5495484_chr12_32793492 1.28e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 242456564 10771988 pilot_1_CHB+JPT_4341641_chr12_32793492 1.28e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 281342136 10771988 GMI_AK_SNP_5662525 1.28e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32902225C>T;NG_028122.1:g.11663G>A;NM_001040436.2:c.1274+646G>A 479738582 10771988 HumanOmni1-Quad_v1-0_C_rs10771988-131_T_R_1863266041 1.28e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ABI 51067 NC_000012.11:g.32902230delA;NG_028122.1:g.11658delT;NM_001040436.2:c.1274+641delT 40107986 36011080 hCV33717247 2005.07.16 2005.07.16 2006.03.15 2011.07.08 137 SC_SNP 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 15646692 10844338 NT_009714.16_25661208 1.41e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 18770114 10844338 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25661208 1.41e-01 2004.02.20 2006.10.26 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 18984727 10844338 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25661208 1.41e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 82073436 10844338 Cor19240_SNV_20070510.chr12_32793501 1.41e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 118699769 10844338 NA18507_000044245_NCBI36.1_chr12_32793501 1.41e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 169540671 10844338 NA19240_36_chr12_32793501 1.41e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 170716537 10844338 NA20431_36_chr12_32793501 1.41e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 197991312 10844338 BUSHMAN-chr12-32793500 1.41e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 211266504 10844338 YRI.trio.3.2010_1093556_chr12_32793501 1.41e-01 2010.03.30 2010.03.30 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 225690364 10844338 pilot_1_YRI_7500047_chr12_32793501 1.41e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 235890856 10844338 pilot_1_CEU_5495485_chr12_32793501 1.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 242456565 10844338 pilot_1_CHB+JPT_4341642_chr12_32793501 1.41e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32902234C>T;NG_028122.1:g.11654G>A;NM_001040436.2:c.1274+637G>A 281342137 10844338 GMI_AK_SNP_5662526 1.41e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902338A>G;NG_028122.1:g.11550T>C;NM_001040436.2:c.1274+533T>C 337259376 144109119 20100804_snps_8902917_chr12_32902338 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902341A>G;NG_028122.1:g.11547T>C;NM_001040436.2:c.1274+530T>C 462792407 188850889 20101123_snps_8959637_chr12_32902341 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 51067 NC_000012.11:g.32902361A>T;NG_028122.1:g.11527T>A;NM_001040436.2:c.1274+510T>A 161518718 76744506 ENSSNP731549 2009.09.25 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902370T>C;NG_028122.1:g.11518A>G;NM_001040436.2:c.1274+501A>G 225690365 114169125 pilot_1_YRI_7500048_chr12_32793637 1.19e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902431C>T;NG_028122.1:g.11457G>A;NM_001040436.2:c.1274+440G>A 462792408 181373037 20101123_snps_8959638_chr12_32902431 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902477G>A;NG_028122.1:g.11411C>T;NM_001040436.2:c.1274+394C>T 462792409 186183339 20101123_snps_8959639_chr12_32902477 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902508A>C;NG_028122.1:g.11380T>G;NM_001040436.2:c.1274+363T>G 225690366 115015417 pilot_1_YRI_7500049_chr12_32793775 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32902510C>A;NG_028122.1:g.11378G>T;NM_001040436.2:c.1274+361G>T 462792410 191122566 20101123_snps_8959640_chr12_32902510 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902517A>C;NG_028122.1:g.11371T>G;NM_001040436.2:c.1274+354T>G 462792411 180792870 20101123_snps_8959641_chr12_32902517 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902549C>T;NG_028122.1:g.11339G>A;NM_001040436.2:c.1274+322G>A 337259377 146477495 20100804_snps_8902918_chr12_32902549 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 51067 NC_000012.11:g.32902712C>T;NG_028122.1:g.11176G>A;NM_001040436.2:c.1274+159G>A 89080634 61926203 JWB-2822257 2.29e-02 2008.02.28 2008.02.28 2008.03.24 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32902712C>T;NG_028122.1:g.11176G>A;NM_001040436.2:c.1274+159G>A 133093048 61926203 ENSSNP5917005 2.29e-02 2009.05.12 2009.05.14 2008.03.24 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902712C>T;NG_028122.1:g.11176G>A;NM_001040436.2:c.1274+159G>A 337259378 61926203 20100804_snps_8902919_chr12_32902712 2.29e-02 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902820G>A;NG_028122.1:g.11068C>T;NM_001040436.2:c.1274+51C>T 462792412 187627204 20101123_snps_8959642_chr12_32902820 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32902970A>G;NG_028122.1:g.10918T>C;NM_001040436.2:c.1175T>C;NP_001035526.1:p.Leu392Ser 488989360 200217248 20110521_exome_169819_chr12_32902970 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32902999C>G;NG_028122.1:g.10889G>C;NM_001040436.2:c.1146G>C;NP_001035526.1:p.Glu382Asp 488989362 202083773 20110521_exome_169820_chr12_32902999 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903146T>A;NG_028122.1:g.10742A>T;NM_001040436.2:c.1104-105A>T 462792413 190866316 20101123_snps_8959643_chr12_32903146 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 15646693 10844339 NT_009714.16_25662122 1.17e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 18790400 10844339 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25662122 1.17e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 19001325 10844339 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25662122 1.17e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 118699774 10844339 NA18507_000044246_NCBI36.1_chr12_32794415 1.17e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 170716548 10844339 NA20431_36_chr12_32794415 1.17e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 197991317 10844339 BUSHMAN-chr12-32794414 1.17e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 235890858 10844339 pilot_1_CEU_5495487_chr12_32794415 1.17e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 242456566 10844339 pilot_1_CHB+JPT_4341643_chr12_32794415 1.17e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32903148T>G;NG_028122.1:g.10740A>C;NM_001040436.2:c.1104-107A>C 281342138 10844339 GMI_AK_SNP_5662527 1.17e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32903153T>G;NG_028122.1:g.10735A>C;NM_001040436.2:c.1104-112A>C 133093051 78342381 ENSSNP10584075 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32903228C>T;NG_028122.1:g.10660G>A;NM_001040436.2:c.1104-187G>A 337259380 138643327 20100804_snps_8902921_chr12_32903228 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32903238C>T;NG_028122.1:g.10650G>A;NM_001040436.2:c.1104-197G>A 337259381 148832666 20100804_snps_8902922_chr12_32903238 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32903252C>T;NG_028122.1:g.10636G>A;NM_001040436.2:c.1104-211G>A 337259382 143432850 20100804_snps_8902923_chr12_32903252 1.69e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32903331T>C;NG_028122.1:g.10557A>G;NM_001040436.2:c.1104-290A>G 337259383 138032809 20100804_snps_8902924_chr12_32903331 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 89080638 61926204 JWB-2822258 9.00e-04 2008.02.28 2008.02.28 2008.03.24 2011.10.06 137 HUMANGENOME_JCVI 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 97300093 61926204 1103649411207 9.00e-04 2008.03.28 2008.03.28 2008.03.24 2011.10.06 137 ENSEMBL 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 133093054 61926204 ENSSNP10584076 9.00e-04 2009.05.12 2009.05.14 2008.03.24 2011.10.06 137 ENSEMBL 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 142655839 61926204 ENSSNP9109118 9.00e-04 2009.06.05 2009.10.16 2008.03.24 2011.10.06 137 PJP 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 291417555 61926204 SNP_923913_chr12_32794692 9.00e-04 2011.01.21 2011.01.21 2008.03.24 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32903425G>A;NG_028122.1:g.10463C>T;NM_001040436.2:c.1103+228C>T 462792414 61926204 20101123_snps_8959644_chr12_32903425 9.00e-04 2011.07.20 2011.07.20 2008.03.24 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32903439C>T;NG_028122.1:g.10449G>A;NM_001040436.2:c.1103+214G>A 462792415 187384054 20101123_snps_8959645_chr12_32903439 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 51067 NC_000012.11:g.32903543T>C;NG_028122.1:g.10345A>G;NM_001040436.2:c.1103+110A>G 281342139 202164653 GMI_AK_SNP_5662528 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 51067 NC_000012.11:g.32903635A>G;NG_028122.1:g.10253T>C;NM_001040436.2:c.1103+18T>C 462792416 190343859 20101123_snps_8959646_chr12_32903635 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903635A>G;NG_028122.1:g.10253T>C;NM_001040436.2:c.1103+18T>C 491039683 190343859 20110521_exome_547481_chr12_32903635 2.30e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32903635A>G;NG_028122.1:g.10253T>C;NM_001040436.2:c.1103+18T>C 491662886 190343859 SNV-chr12-32794902 2.30e-03 2012.03.06 2012.03.12 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903666C>T;NG_028122.1:g.10222G>A;NM_001040436.2:c.1090G>A;NP_001035526.1:p.Asp364Asn 488989364 201279283 20110521_exome_169821_chr12_32903666 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32903675C>G;NG_028122.1:g.10213G>C;NM_001040436.2:c.1081G>C;NP_001035526.1:p.Glu361Gln 342352848 148805938 ESP2500-chr12-32903675 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32903688A>G;NG_028122.1:g.10200T>C;NM_001040436.2:c.1068T>C;NP_001035526.1:p.Leu356= 342352849 141563267 ESP2500-chr12-32903688 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32903690G>A;NG_028122.1:g.10198C>T;NM_001040436.2:c.1066C>T;NP_001035526.1:p.Leu356Phe 342352850 146384435 ESP2500-chr12-32903690 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32903728C>T;NG_028122.1:g.10160G>A;NM_001040436.2:c.1028G>A;NP_001035526.1:p.Arg343Gln 488989366 200280315 20110521_exome_169822_chr12_32903728 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 APPLERA_GI 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 48429768 35339227 hCV25921661 1.92e-02 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 211266506 35339227 YRI.trio.3.2010_1093557_chr12_32794997 1.92e-02 2010.03.30 2010.03.30 2006.03.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 225690367 35339227 pilot_1_YRI_7500050_chr12_32794997 1.92e-02 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 342352851 35339227 ESP2500-chr12-32903730 1.92e-02 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 481703654 35339227 HumanOmni2.5-4v1_D_kgp18690588-0_T_R_1829025098 1.92e-02 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 483056695 35339227 HumanOmni2.5-4v1_B_SNP12-32794997-0_T_R_1639230050 1.92e-02 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903730C>T;NG_028122.1:g.10158G>A;NM_001040436.2:c.1026G>A;NP_001035526.1:p.Arg342= 491039684 35339227 20110521_exome_547482_chr12_32903730 1.92e-02 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32903741C>T;NG_028122.1:g.10147G>A;NM_001040436.2:c.1015G>A;NP_001035526.1:p.Glu339Lys 342352852 144355430 ESP2500-chr12-32903741 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 51067 NC_000012.11:g.32903766A>G;NG_028122.1:g.10122T>C;NM_001040436.2:c.990T>C;NP_001035526.1:p.Asp330= 197991322 111670844 BUSHMAN-chr12-32795032 2010.03.05 2010.03.05 2010.07.04 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32903780G>A;NG_028122.1:g.10108C>T;NM_001040436.2:c.976C>T;NP_001035526.1:p.Leu326Phe 462792417 183321767 20101123_snps_8959647_chr12_32903780 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903780G>A;NG_028122.1:g.10108C>T;NM_001040436.2:c.976C>T;NP_001035526.1:p.Leu326Phe 491039685 183321767 20110521_exome_547483_chr12_32903780 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32903808C>T;NG_028122.1:g.10080G>A;NM_001040436.2:c.948G>A;NP_001035526.1:p.Arg316= 342352853 146592186 ESP2500-chr12-32903808 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32903808C>T;NG_028122.1:g.10080G>A;NM_001040436.2:c.948G>A;NP_001035526.1:p.Arg316= 491466146 146592186 splice_182372_chr_12_32903808 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32903808C>T;NG_028122.1:g.10080G>A;NM_001040436.2:c.948G>A;NP_001035526.1:p.Arg316= 491662887 146592186 SNV-chr12-32795075 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32903851T>C;NG_028122.1:g.10037A>G;NM_001040436.2:c.948-43A>G 197991327 113063841 BUSHMAN-chr12-32795117 2010.03.05 2010.03.05 2010.07.04 2011.09.09 137 GMI 51067 NC_000012.11:g.32903877C>T;NG_028122.1:g.10011G>A;NM_001040436.2:c.948-69G>A 281342140 147512680 GMI_AK_SNP_5662529 3.20e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903877C>T;NG_028122.1:g.10011G>A;NM_001040436.2:c.948-69G>A 337259385 147512680 20100804_snps_8902926_chr12_32903877 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32903988A>T;NG_028122.1:g.9900T>A;NM_001040436.2:c.948-180T>A 462792418 187866480 20101123_snps_8959648_chr12_32903988 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 51067 NC_000012.11:g.32904000A>C;NG_028122.1:g.9888T>G;NM_001040436.2:c.948-192T>G 281342141 192770537 GMI_AK_SNP_5662530 2.70e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904000A>C;NG_028122.1:g.9888T>G;NM_001040436.2:c.948-192T>G 462792419 192770537 20101123_snps_8959649_chr12_32904000 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 HGSV 51067 NC_000012.11:g.32904006_32904007insT;NG_028122.1:g.9881_9882insA;NM_001040436.2:c.948-199_948-198insA 82488384 57698169 Cor19240_DIV_20070510.chr12_32795286-32795287_1 2007.12.02 2007.12.02 2007.12.14 2012.11.28 137 GMI 51067 NC_000012.11:g.32904006_32904007insT;NG_028122.1:g.9881_9882insA;NM_001040436.2:c.948-199_948-198insA 289121570 57698169 GMI_AK_INDEL_795078 2010.12.27 2011.12.28 2007.12.14 2012.11.28 137 HGSV 51067 NC_000012.11:g.32904021A>G;NG_028122.1:g.9867T>C;NM_001040436.2:c.948-213T>C 84337605 59203521 Cor18517_SNV_20070510.chr12_32795288 1.14e-02 2007.12.07 2007.12.07 2007.12.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904021A>G;NG_028122.1:g.9867T>C;NM_001040436.2:c.948-213T>C 337259386 59203521 20100804_snps_8902927_chr12_32904021 1.14e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904035C>T;NG_028122.1:g.9853G>A;NM_001040436.2:c.948-227G>A 337259387 141943577 20100804_snps_8902928_chr12_32904035 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 51067 NC_000012.11:g.32904069T>C;NG_028122.1:g.9819A>G;NM_001040436.2:c.948-261A>G 85401589 59300245 Cor18517_SNV_20070510.chr12_32795336 1.05e-02 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904069T>C;NG_028122.1:g.9819A>G;NM_001040436.2:c.948-261A>G 337259388 59300245 20100804_snps_8902929_chr12_32904069 1.05e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904089C>T;NG_028122.1:g.9799G>A;NM_001040436.2:c.948-281G>A 337259389 139971581 20100804_snps_8902930_chr12_32904089 1.92e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 51067 NC_000012.11:g.32904197C>A;NG_028122.1:g.9691G>T;NM_001040436.2:c.948-389G>T 197991332 112627182 BUSHMAN-chr12-32795463 2010.03.05 2010.03.05 2010.07.04 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32904361A>G;NG_028122.1:g.9527T>C;NM_001040436.2:c.948-553T>C 462792420 184260613 20101123_snps_8959650_chr12_32904361 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 16009629 10844340 NT_009714.16_25663388 1.73e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 18795098 10844340 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25663388 1.73e-01 2004.02.20 2008.03.31 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 19005148 10844340 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25663388 1.73e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 AFFY 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 76483092 10844340 AFFY_6_1M_SNP_A-8344008 1.73e-01 2007.08.30 2007.08.30 2004.02.27 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 105015380 10844340 KHS1407703 1.73e-01 2008.07.11 2008.07.11 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 111765350 10844340 CEU.trio.12.15.2008_2713590_chr12_32795681 1.73e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 113389378 10844340 NA19240_2008_12_16_2440118_chr12_32795681 1.73e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 118699779 10844340 NA18507_000044247_NCBI36.1_chr12_32795681 1.73e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 169540685 10844340 NA19240_36_chr12_32795681 1.73e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 170716560 10844340 NA20431_36_chr12_32795681 1.73e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 197991337 10844340 BUSHMAN-chr12-32795680 1.73e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 225690368 10844340 pilot_1_YRI_7500051_chr12_32795681 1.73e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 235890859 10844340 pilot_1_CEU_5495488_chr12_32795681 1.73e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 242456567 10844340 pilot_1_CHB+JPT_4341644_chr12_32795681 1.73e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 281342142 10844340 GMI_AK_SNP_5662531 1.73e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 51067 NC_000012.11:g.32904414T>C;NG_028122.1:g.9474A>G;NM_001040436.2:c.948-606A>G 291417556 10844340 SNP_923914_chr12_32795681 1.73e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904430T>G;NG_028122.1:g.9458A>C;NM_001040436.2:c.948-622A>C 337259390 149779679 20100804_snps_8902931_chr12_32904430 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32904552C>T;NG_028122.1:g.9336G>A;NM_001040436.2:c.948-744G>A 462792421 188043379 20101123_snps_8959651_chr12_32904552 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32904617C>T;NG_028122.1:g.9271G>A;NM_001040436.2:c.948-809G>A 337259391 144663432 20100804_snps_8902932_chr12_32904617 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32904659G>A;NG_028122.1:g.9229C>T;NM_001040436.2:c.948-851C>T 462792422 192502154 20101123_snps_8959652_chr12_32904659 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32904725C>T;NG_028122.1:g.9163G>A;NM_001040436.2:c.948-917G>A 242456568 118040215 pilot_1_CHB+JPT_4341645_chr12_32795992 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32904768C>T;NG_028122.1:g.9120G>A;NM_001040436.2:c.948-960G>A 337259392 139633045 20100804_snps_8902933_chr12_32904768 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32904777C>T;NG_028122.1:g.9111G>A;NM_001040436.2:c.948-969G>A 462792423 184725580 20101123_snps_8959653_chr12_32904777 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 16009917 10771989 NT_009714.16_25663765 1.47e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 17472600 10771989 CSHL-HuCC-200402.chr12.NT_009714.16_25663765 1.47e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 18779393 10771989 SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_25663765 1.47e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 18992235 10771989 SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_25663765 1.47e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 20970841 10771989 WGSA-200403-chr12.chr12.NT_009714.16_25663765 1.47e-01 2004.03.19 2004.03.19 2004.02.27 2012.11.28 137 ABI 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 40263953 10771989 hCV31554939 1.47e-01 2005.07.16 2005.07.16 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 111765358 10771989 CEU.trio.12.15.2008_2713591_chr12_32796058 1.47e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 113389389 10771989 NA19240_2008_12_16_2440119_chr12_32796058 1.47e-01 2008.12.18 2008.12.18 2004.02.27 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 118699784 10771989 NA18507_000044248_NCBI36.1_chr12_32796058 1.47e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 161518720 10771989 ENSSNP731551 1.47e-01 2009.09.25 2009.09.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 169540701 10771989 NA19240_36_chr12_32796058 1.47e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 170716570 10771989 NA20431_36_chr12_32796058 1.47e-01 2009.10.01 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 197991342 10771989 BUSHMAN-chr12-32796057 1.47e-01 2010.03.05 2010.03.05 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 225690369 10771989 pilot_1_YRI_7500052_chr12_32796058 1.47e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 235890860 10771989 pilot_1_CEU_5495489_chr12_32796058 1.47e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 242456569 10771989 pilot_1_CHB+JPT_4341646_chr12_32796058 1.47e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 51067 NC_000012.11:g.32904791C>T;NG_028122.1:g.9097G>A;NM_001040436.2:c.948-983G>A 281342143 10771989 GMI_AK_SNP_5662532 1.47e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904810G>A;NG_028122.1:g.9078C>T;NM_001040436.2:c.948-1002C>T 462792424 189103631 20101123_snps_8959654_chr12_32904810 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32904815C>T;NG_028122.1:g.9073G>A;NM_001040436.2:c.948-1007G>A 225690370 116723626 pilot_1_YRI_7500053_chr12_32796082 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 51067 NC_000012.11:g.32904872delT;NG_028122.1:g.9016delA;NM_001040436.2:c.948-1064delA 40270616 34450516 hCV33717246 2005.07.16 2005.07.16 2006.03.14 2011.07.08 137 WI_SSAHASNP 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 12206076 7969353 chr12.NT_009714.15_25663924 1.73e-01 2003.07.04 2004.05.17 2003.07.11 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 17447886 7969353 CSHL-HuCC-200402.chr12.NT_009714.16_25663924 1.73e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 20864167 7969353 WGSA-200403-chr12.chr12.NT_009714.16_25663924 1.73e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 23334780 7969353 afd4134259 1.73e-01 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 ABI 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 38966389 7969353 hCV8150416 1.73e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 111765368 7969353 CEU.trio.12.15.2008_2713592_chr12_32796217 1.73e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 113389400 7969353 NA19240_2008_12_16_2440120_chr12_32796217 1.73e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 118699789 7969353 NA18507_000044249_NCBI36.1_chr12_32796217 1.73e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 161518722 7969353 ENSSNP731552 1.73e-01 2009.09.25 2009.09.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 169540719 7969353 NA19240_36_chr12_32796217 1.73e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 170716583 7969353 NA20431_36_chr12_32796217 1.73e-01 2009.10.01 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 197991347 7969353 BUSHMAN-chr12-32796216 1.73e-01 2010.03.05 2010.03.05 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 225690371 7969353 pilot_1_YRI_7500054_chr12_32796217 1.73e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 235890861 7969353 pilot_1_CEU_5495490_chr12_32796217 1.73e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 242456570 7969353 pilot_1_CHB+JPT_4341647_chr12_32796217 1.73e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 281342144 7969353 GMI_AK_SNP_5662533 1.73e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 51067 NC_000012.11:g.32904950T>C;NG_028122.1:g.8938A>G;NM_001040436.2:c.948-1142A>G 291417557 7969353 SNP_923915_chr12_32796217 1.73e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904979C>T;NG_028122.1:g.8909G>A;NM_001040436.2:c.948-1171G>A 462792425 181619756 20101123_snps_8959655_chr12_32904979 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 12177999 7954322 chr12.NT_009714.15_25663954 1.28e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 17455891 7954322 CSHL-HuCC-200402.chr12.NT_009714.16_25663954 1.28e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 ABI 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 40250753 7954322 hCV8150415 1.28e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 111765372 7954322 CEU.trio.12.15.2008_2713593_chr12_32796247 1.28e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 113389404 7954322 NA19240_2008_12_16_2440121_chr12_32796247 1.28e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 118699793 7954322 NA18507_000044250_NCBI36.1_chr12_32796247 1.28e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 161518724 7954322 ENSSNP731553 1.28e-01 2009.09.25 2009.09.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 169540735 7954322 NA19240_36_chr12_32796247 1.28e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 170716594 7954322 NA20431_36_chr12_32796247 1.28e-01 2009.10.01 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 197991352 7954322 BUSHMAN-chr12-32796246 1.28e-01 2010.03.05 2010.03.05 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 225690372 7954322 pilot_1_YRI_7500055_chr12_32796247 1.28e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 235890862 7954322 pilot_1_CEU_5495491_chr12_32796247 1.28e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 242456571 7954322 pilot_1_CHB+JPT_4341648_chr12_32796247 1.28e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 281342145 7954322 GMI_AK_SNP_5662534 1.28e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 51067 NC_000012.11:g.32904980A>G;NG_028122.1:g.8908T>C;NM_001040436.2:c.948-1172T>C 291417558 7954322 SNP_923916_chr12_32796247 1.28e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905090C>T;NG_028122.1:g.8798G>A;NM_001040436.2:c.948-1282G>A 462792426 185005904 20101123_snps_8959656_chr12_32905090 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905180C>T;NG_028122.1:g.8708G>A;NM_001040436.2:c.948-1372G>A 337259394 146487785 20100804_snps_8902935_chr12_32905180 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 51067 NC_000012.11:g.32905230A>G;NG_028122.1:g.8658T>C;NM_001040436.2:c.948-1422T>C 17457763 11831695 CSHL-HuCC-200402.chr12.NT_009714.16_25664204 9.00e-04 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905230A>G;NG_028122.1:g.8658T>C;NM_001040436.2:c.948-1422T>C 462792427 11831695 20101123_snps_8959657_chr12_32905230 9.00e-04 2011.07.20 2011.07.20 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905237T>C;NG_028122.1:g.8651A>G;NM_001040436.2:c.948-1429A>G 462792428 181063488 20101123_snps_8959658_chr12_32905237 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905262G>A;NG_028122.1:g.8626C>T;NM_001040436.2:c.948-1454C>T 337259395 139944991 20100804_snps_8902936_chr12_32905262 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 12184032 7957603 chr12.NT_009714.15_25664251 1.38e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 17474657 7957603 CSHL-HuCC-200402.chr12.NT_009714.16_25664251 1.38e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 HGSV 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 79962442 7957603 Cor18507_SNV_20070510.chr12_32796544 1.38e-01 2007.11.24 2007.11.24 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 113389410 7957603 NA19240_2008_12_16_2440122_chr12_32796544 1.38e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 118699797 7957603 NA18507_000044251_NCBI36.1_chr12_32796544 1.38e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 161518727 7957603 ENSSNP731554 1.38e-01 2009.09.25 2009.09.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 169540750 7957603 NA19240_36_chr12_32796544 1.38e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 170716605 7957603 NA20431_36_chr12_32796544 1.38e-01 2009.10.01 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 197991357 7957603 BUSHMAN-chr12-32796543 1.38e-01 2010.03.05 2010.03.05 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 225690373 7957603 pilot_1_YRI_7500056_chr12_32796544 1.38e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 235890863 7957603 pilot_1_CEU_5495492_chr12_32796544 1.38e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 281342146 7957603 GMI_AK_SNP_5662535 1.38e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 51067 NC_000012.11:g.32905277C>T;NG_028122.1:g.8611G>A;NM_001040436.2:c.948-1469G>A 291417559 7957603 SNP_923917_chr12_32796544 1.38e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905284A>C;NG_028122.1:g.8604T>G;NM_001040436.2:c.948-1476T>G 462792429 185067469 20101123_snps_8959659_chr12_32905284 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 12184448 7957841 chr12.NT_009714.15_25664267 1.41e-01 2003.07.04 2008.03.31 2003.07.11 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 24368423 7957841 afd4565303 1.41e-01 2004.08.21 2004.09.13 2003.07.11 2012.11.28 137 AFFY 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 66513953 7957841 SNP_A-4218008 1.41e-01 2006.10.29 2008.03.31 2003.07.11 2012.11.28 137 AFFY 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 76336608 7957841 AFFY_6_1M_SNP_A-4218008 1.41e-01 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 HGSV 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 80510039 7957841 Cor18507_SNV_20070510.chr12_32796560 1.41e-01 2007.11.25 2007.11.25 2003.07.11 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 82523212 7957841 KHS271735 1.41e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 111765381 7957841 CEU.trio.12.15.2008_2713594_chr12_32796560 1.41e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 113389419 7957841 NA19240_2008_12_16_2440123_chr12_32796560 1.41e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 118699800 7957841 NA18507_000044252_NCBI36.1_chr12_32796560 1.41e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 169540765 7957841 NA19240_36_chr12_32796560 1.41e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 170716616 7957841 NA20431_36_chr12_32796560 1.41e-01 2009.10.01 2009.10.05 2003.07.11 2012.11.28 137 AFFY 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 173305067 7957841 GenomeWideSNP_5_SNP_A-4218008 1.41e-01 2009.10.03 2009.10.03 2003.07.11 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 197991362 7957841 BUSHMAN-chr12-32796559 1.41e-01 2010.03.05 2010.03.05 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 225690374 7957841 pilot_1_YRI_7500057_chr12_32796560 1.41e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 235890864 7957841 pilot_1_CEU_5495493_chr12_32796560 1.41e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 281342147 7957841 GMI_AK_SNP_5662536 1.41e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 51067 NC_000012.11:g.32905293G>A;NG_028122.1:g.8595C>T;NM_001040436.2:c.948-1485C>T 291417560 7957841 SNP_923918_chr12_32796560 1.41e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32905295G>T;NG_028122.1:g.8593C>A;NM_001040436.2:c.948-1487C>A 19252675 12426357 CSHL-HuDD-200402.chr12.NT_009714.16_25664269 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 CSHL-HAPMAP 51067 NC_000012.11:g.32905395C>T;NG_028122.1:g.8493G>A;NM_001040436.2:c.947+1457G>A 19252635 12426354 CSHL-HuDD-200402.chr12.NT_009714.16_25664369 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ABI 51067 NC_000012.11:g.32905395C>T;NG_028122.1:g.8493G>A;NM_001040436.2:c.947+1457G>A 40222907 12426354 hCV8150414 2005.07.16 2005.07.16 2004.02.28 2011.09.09 137 ENSEMBL 51067 NC_000012.11:g.32905395C>T;NG_028122.1:g.8493G>A;NM_001040436.2:c.947+1457G>A 161518728 12426354 ENSSNP731555 2009.09.25 2010.03.07 2004.02.28 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32905410C>T;NG_028122.1:g.8478G>A;NM_001040436.2:c.947+1442G>A 462792430 189535831 20101123_snps_8959660_chr12_32905410 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 51067 NC_000012.11:g.32905486C>T;NG_028122.1:g.8402G>A;NM_001040436.2:c.947+1366G>A 161518730 79636139 ENSSNP731556 2009.09.25 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32905487G>A;NG_028122.1:g.8401C>T;NM_001040436.2:c.947+1365C>T 462792431 181906252 20101123_snps_8959661_chr12_32905487 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905547G>C;NG_028122.1:g.8341C>G;NM_001040436.2:c.947+1305C>G 462792432 186129633 20101123_snps_8959662_chr12_32905547 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905659A>G;NG_028122.1:g.8229T>C;NM_001040436.2:c.947+1193T>C 462792433 191961282 20101123_snps_8959663_chr12_32905659 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 51067 NC_000012.11:g.32905674C>A;NG_028122.1:g.8214G>T;NM_001040436.2:c.947+1178G>T 133093057 75459541 ENSSNP10584077 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 DEVINE_LAB 51067 NC_000012.11:g.32905675delA;NC_000012.11:g.32905675delAinsAAAA;NC_000012.11:g.32905675delAinsAAAAAAAA;NC_000012.11:g.32905675delAinsAAAAAAAAAAAA;NG_028122.1:g.8213delT;NG_028122.1:g.8213delTinsTTTT;NG_028122.1:g.8213delTinsTTTTTTTT;NG_028122.1:g.8213delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1177delT;NM_001040436.2:c.947+1177delTinsTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTTTTTT 15028964 10604507 INDEL_GP34_WGS_113913 2003.11.13 2003.11.22 2003.12.05 2012.05.16 137 DEVINE_LAB 51067 NC_000012.11:g.32905675delA;NC_000012.11:g.32905675delAinsAAAA;NC_000012.11:g.32905675delAinsAAAAAAAA;NC_000012.11:g.32905675delAinsAAAAAAAAAAAA;NG_028122.1:g.8213delT;NG_028122.1:g.8213delTinsTTTT;NG_028122.1:g.8213delTinsTTTTTTTT;NG_028122.1:g.8213delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1177delT;NM_001040436.2:c.947+1177delTinsTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTTTTTT 99536282 10604507 INDEL_GP36_2007a_503900_0 2008.05.05 2008.05.05 2003.12.05 2012.05.16 137 DEVINE_LAB 51067 NC_000012.11:g.32905675delA;NC_000012.11:g.32905675delAinsAAAA;NC_000012.11:g.32905675delAinsAAAAAAAA;NC_000012.11:g.32905675delAinsAAAAAAAAAAAA;NG_028122.1:g.8213delT;NG_028122.1:g.8213delTinsTTTT;NG_028122.1:g.8213delTinsTTTTTTTT;NG_028122.1:g.8213delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1177delT;NM_001040436.2:c.947+1177delTinsTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTTTTTT 100508595 10604507 INDEL_GP36_2008a_2277602_0 2008.05.16 2008.05.16 2003.12.05 2012.05.16 137 DEVINE_LAB 51067 NC_000012.11:g.32905675delA;NC_000012.11:g.32905675delAinsAAAA;NC_000012.11:g.32905675delAinsAAAAAAAA;NC_000012.11:g.32905675delAinsAAAAAAAAAAAA;NG_028122.1:g.8213delT;NG_028122.1:g.8213delTinsTTTT;NG_028122.1:g.8213delTinsTTTTTTTT;NG_028122.1:g.8213delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1177delT;NM_001040436.2:c.947+1177delTinsTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTT;NM_001040436.2:c.947+1177delTinsTTTTTTTTTTTT 101227065 10604507 INDEL_GP36_2008a_2277601_0 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 51067 NC_000012.11:g.32905675_32905676insA;NC_000012.11:g.32905675_32905676insAA;NG_028122.1:g.8212_8213insT;NG_028122.1:g.8212_8213insTT;NM_001040436.2:c.947+1176_947+1177insT;NM_001040436.2:c.947+1176_947+1177insTT 102323293 72422143 INDEL_GP36_2008a_1679590_0 2008.05.18 2008.05.18 2009.02.13 2012.05.16 137 PJP 51067 NC_000012.11:g.32905675_32905676insA;NC_000012.11:g.32905675_32905676insAA;NG_028122.1:g.8212_8213insT;NG_028122.1:g.8212_8213insTT;NM_001040436.2:c.947+1176_947+1177insT;NM_001040436.2:c.947+1176_947+1177insTT 294745836 72422143 DIP_183540_chr12_32796942 2011.01.22 2011.01.22 2009.02.13 2012.05.16 137 ENSEMBL 51067 NC_000012.11:g.32905677A>C;NG_028122.1:g.8211T>G;NM_001040436.2:c.947+1175T>G 133093060 78898071 ENSSNP10584078 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 ABI 51067 NC_000012.11:g.32905699_32905700insA;NC_000012.11:g.32905699_32905700insAA;NG_028122.1:g.8188_8189insT;NG_028122.1:g.8188_8189insTT;NM_001040436.2:c.947+1152_947+1153insT;NM_001040436.2:c.947+1152_947+1153insTT 40124891 33981721 hCV33717242 2005.07.16 2005.07.16 2006.03.13 2012.05.16 137 ABI 51067 NC_000012.11:g.32905699_32905700insA;NC_000012.11:g.32905699_32905700insAA;NG_028122.1:g.8188_8189insT;NG_028122.1:g.8188_8189insTT;NM_001040436.2:c.947+1152_947+1153insT;NM_001040436.2:c.947+1152_947+1153insTT 40197087 33981721 hCV33717243 2005.07.16 2005.07.16 2006.03.13 2012.05.16 137 HGSV 51067 NC_000012.11:g.32905699delA;NC_000012.11:g.32905699delAinsAA;NC_000012.11:g.32905699delAinsAAAA;NC_000012.11:g.32905699delAinsAAAAAA;NC_000012.11:g.32905699delAinsAAAAAAAAAAAA;NG_028122.1:g.8189delT;NG_028122.1:g.8189delTinsTT;NG_028122.1:g.8189delTinsTTTT;NG_028122.1:g.8189delTinsTTTTTT;NG_028122.1:g.8189delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1153delT;NM_001040436.2:c.947+1153delTinsTT;NM_001040436.2:c.947+1153delTinsTTTT;NM_001040436.2:c.947+1153delTinsTTTTTT;NM_001040436.2:c.947+1153delTinsTTTTTTTTTTTT 79870009 56907654 Cor18507_DIV_20070510.chr12_32796960-32796967_1 2007.11.24 2007.11.24 2007.12.14 2012.11.28 137 HGSV 51067 NC_000012.11:g.32905699_32905700insA;NC_000012.11:g.32905699_32905700insAA;NG_028122.1:g.8188_8189insT;NG_028122.1:g.8188_8189insTT;NM_001040436.2:c.947+1152_947+1153insT;NM_001040436.2:c.947+1152_947+1153insTT 80748771 33981721 Cor12878_DIV_20070510.chr12_32796966-32796967_1 2007.11.26 2007.11.26 2006.03.13 2012.05.16 137 HGSV 51067 NC_000012.11:g.32905699delA;NC_000012.11:g.32905699delAinsAA;NC_000012.11:g.32905699delAinsAAAA;NC_000012.11:g.32905699delAinsAAAAAA;NC_000012.11:g.32905699delAinsAAAAAAAAAAAA;NG_028122.1:g.8189delT;NG_028122.1:g.8189delTinsTT;NG_028122.1:g.8189delTinsTTTT;NG_028122.1:g.8189delTinsTTTTTT;NG_028122.1:g.8189delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1153delT;NM_001040436.2:c.947+1153delTinsTT;NM_001040436.2:c.947+1153delTinsTTTT;NM_001040436.2:c.947+1153delTinsTTTTTT;NM_001040436.2:c.947+1153delTinsTTTTTTTTTTTT 82666172 56907654 Cor19240_DIV_20070510.chr12_32796954-32796967_1 2007.12.03 2007.12.03 2007.12.14 2012.11.28 137 HUMANGENOME_JCVI 51067 NC_000012.11:g.32905699delA;NC_000012.11:g.32905699delAinsAA;NC_000012.11:g.32905699delAinsAAAA;NC_000012.11:g.32905699delAinsAAAAAA;NC_000012.11:g.32905699delAinsAAAAAAAAAAAA;NG_028122.1:g.8189delT;NG_028122.1:g.8189delTinsTT;NG_028122.1:g.8189delTinsTTTT;NG_028122.1:g.8189delTinsTTTTTT;NG_028122.1:g.8189delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1153delT;NM_001040436.2:c.947+1153delTinsTT;NM_001040436.2:c.947+1153delTinsTTTT;NM_001040436.2:c.947+1153delTinsTTTTTT;NM_001040436.2:c.947+1153delTinsTTTTTTTTTTTT 95593275 56907654 1104685303965 2008.03.22 2008.12.03 2007.12.14 2012.11.28 137 HUMANGENOME_JCVI 51067 NC_000012.11:g.32905699delA;NC_000012.11:g.32905699delAinsAA;NC_000012.11:g.32905699delAinsAAAA;NC_000012.11:g.32905699delAinsAAAAAA;NC_000012.11:g.32905699delAinsAAAAAAAAAAAA;NG_028122.1:g.8189delT;NG_028122.1:g.8189delTinsTT;NG_028122.1:g.8189delTinsTTTT;NG_028122.1:g.8189delTinsTTTTTT;NG_028122.1:g.8189delTinsTTTTTTTTTTTT;NM_001040436.2:c.947+1153delT;NM_001040436.2:c.947+1153delTinsTT;NM_001040436.2:c.947+1153delTinsTTTT;NM_001040436.2:c.947+1153delTinsTTTTTT;NM_001040436.2:c.947+1153delTinsTTTTTTTTTTTT 97269892 56907654 1103649411206 2008.03.28 2008.03.28 2007.12.14 2012.11.28 137 DEVINE_LAB 51067 NC_000012.11:g.32905675_32905676insA;NG_028122.1:g.8212_8213insT;NM_001040436.2:c.947+1176_947+1177insT 94209788 63713961 INDEL_GP36_2008a_5902_1 2008.03.06 2008.05.17 2008.05.27 2012.12.04 137 DEVINE_LAB 51067 NC_000012.11:g.32905675_32905676insA;NG_028122.1:g.8212_8213insT;NM_001040436.2:c.947+1176_947+1177insT 99607232 63713961 INDEL_GP36_2007a_5902_0 2008.05.05 2008.05.05 2008.05.27 2012.12.04 137 DEVINE_LAB 51067 NC_000012.11:g.32905675_32905676insA;NG_028122.1:g.8212_8213insT;NM_001040436.2:c.947+1176_947+1177insT 100619433 63713961 INDEL_GP36_2008a_5902_2 2008.05.17 2008.05.17 2008.05.27 2012.12.04 137 1000GENOMES 51067 NC_000012.11:g.32905785A>C;NG_028122.1:g.8103T>G;NM_001040436.2:c.947+1067T>G 462792434 183333996 20101123_snps_8959664_chr12_32905785 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905818C>T;NG_028122.1:g.8070G>A;NM_001040436.2:c.947+1034G>A 337259397 151228826 20100804_snps_8902938_chr12_32905818 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32905840T>G;NG_028122.1:g.8048A>C;NM_001040436.2:c.947+1012A>C 235890865 78420301 pilot_1_CEU_5495494_chr12_32797107 4.60e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32905909C>T;NG_028122.1:g.7979G>A;NM_001040436.2:c.947+943G>A 462792435 186705550 20101123_snps_8959665_chr12_32905909 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32905946C>G;NG_028122.1:g.7942G>C;NM_001040436.2:c.947+906G>C 462792436 191143645 20101123_snps_8959666_chr12_32905946 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906076C>T;NG_028122.1:g.7812G>A;NM_001040436.2:c.947+776G>A 462792437 183023761 20101123_snps_8959667_chr12_32906076 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906137G>T;NG_028122.1:g.7751C>A;NM_001040436.2:c.947+715C>A 462792438 186796299 20101123_snps_8959668_chr12_32906137 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906230T>C;NG_028122.1:g.7658A>G;NM_001040436.2:c.947+622A>G 462792439 191254822 20101123_snps_8959669_chr12_32906230 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906256G>A;NG_028122.1:g.7632C>T;NM_001040436.2:c.947+596C>T 337259398 140369851 20100804_snps_8902939_chr12_32906256 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32906420G>A;NG_028122.1:g.7468C>T;NM_001040436.2:c.947+432C>T 462792440 183419487 20101123_snps_8959670_chr12_32906420 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906488G>C;NG_028122.1:g.7400C>G;NM_001040436.2:c.947+364C>G 462792441 187815476 20101123_snps_8959671_chr12_32906488 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 51067 NC_000012.11:g.32906623A>G;NG_028122.1:g.7265T>C;NM_001040436.2:c.947+229T>C 197991367 113951076 BUSHMAN-chr12-32797889 2010.03.05 2010.03.05 2010.07.04 2011.09.09 137 BCM-HGSC-SUB 51067 NC_000012.11:g.32906645A>G;NG_028122.1:g.7243T>C;NM_001040436.2:c.947+207T>C 208227344 113794084 BCM_CMT_1011-2367313 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32906672C>G;NG_028122.1:g.7216G>C;NM_001040436.2:c.947+180G>C 337259399 150300455 20100804_snps_8902940_chr12_32906672 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 51067 NC_000012.11:g.32906690T>C;NG_028122.1:g.7198A>G;NM_001040436.2:c.947+162A>G 197991372 79102975 BUSHMAN-chr12-32797956 1.47e-02 2010.03.05 2010.03.05 2009.12.01 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906690T>C;NG_028122.1:g.7198A>G;NM_001040436.2:c.947+162A>G 225690375 79102975 pilot_1_YRI_7500058_chr12_32797957 1.47e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906690T>C;NG_028122.1:g.7198A>G;NM_001040436.2:c.947+162A>G 242456573 79102975 pilot_1_CHB+JPT_4341650_chr12_32797957 1.47e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906798T>C;NG_028122.1:g.7090A>G;NM_001040436.2:c.947+54A>G 462792442 193190870 20101123_snps_8959672_chr12_32906798 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32906841T>C;NG_028122.1:g.7047A>G;NM_001040436.2:c.947+11A>G 462792443 185141250 20101123_snps_8959673_chr12_32906841 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906841T>C;NG_028122.1:g.7047A>G;NM_001040436.2:c.947+11A>G 491039686 185141250 20110521_exome_547484_chr12_32906841 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32906841T>C;NG_028122.1:g.7047A>G;NM_001040436.2:c.947+11A>G 491662888 185141250 SNV-chr12-32798108 9.00e-04 2012.03.06 2012.03.12 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906865C>G;NG_028122.1:g.7023G>C;NM_001040436.2:c.934G>C;NP_001035526.1:p.Asp312His 462792444 190043383 20101123_snps_8959674_chr12_32906865 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906865C>G;NG_028122.1:g.7023G>C;NM_001040436.2:c.934G>C;NP_001035526.1:p.Asp312His 491039687 190043383 20110521_exome_547485_chr12_32906865 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32906865C>G;NG_028122.1:g.7023G>C;NM_001040436.2:c.934G>C;NP_001035526.1:p.Asp312His 491466147 190043383 nonsyn_182373_chr_12_32906865 1.80e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906869C>T;NG_028122.1:g.7019G>A;NM_001040436.2:c.930G>A;NP_001035526.1:p.Pro310= 337259400 147551647 20100804_snps_8902941_chr12_32906869 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32906869C>T;NG_028122.1:g.7019G>A;NM_001040436.2:c.930G>A;NP_001035526.1:p.Pro310= 342352854 147551647 ESP2500-chr12-32906869 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906869C>T;NG_028122.1:g.7019G>A;NM_001040436.2:c.930G>A;NP_001035526.1:p.Pro310= 491039688 147551647 20110521_exome_547486_chr12_32906869 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32906869C>T;NG_028122.1:g.7019G>A;NM_001040436.2:c.930G>A;NP_001035526.1:p.Pro310= 491662889 147551647 SNV-chr12-32798136 1.40e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32906871G>A;NG_028122.1:g.7017C>T;NM_001040436.2:c.928C>T;NP_001035526.1:p.Pro310Ser 491466148 199885274 nonsyn_182374_chr_12_32906871 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 51067 NC_000012.11:g.32906929A>G;NG_028122.1:g.6959T>C;NM_001040436.2:c.870T>C;NP_001035526.1:p.Val290= 337259401 142067801 20100804_snps_8902942_chr12_32906929 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32906929A>G;NG_028122.1:g.6959T>C;NM_001040436.2:c.870T>C;NP_001035526.1:p.Val290= 491039689 142067801 20110521_exome_547487_chr12_32906929 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32906980T>C;NG_028122.1:g.6908A>G;NM_001040436.2:c.819A>G;NP_001035526.1:p.Leu273= 342352855 149781186 ESP2500-chr12-32906980 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32906989G>A;NG_028122.1:g.6899C>T;NM_001040436.2:c.810C>T;NP_001035526.1:p.Thr270= 337259402 145906298 20100804_snps_8902943_chr12_32906989 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32906989G>A;NG_028122.1:g.6899C>T;NM_001040436.2:c.810C>T;NP_001035526.1:p.Thr270= 491662890 145906298 SNV-chr12-32798256 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32907011C>T;NG_028122.1:g.6877G>A;NM_001040436.2:c.788G>A;NP_001035526.1:p.Gly263Glu 197991377 112193249 BUSHMAN-chr12-32798277 2010.03.05 2010.03.05 2010.07.04 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32907113C>T;NG_028122.1:g.6775G>A;NM_001040436.2:c.780-94G>A 337259403 138716558 20100804_snps_8902944_chr12_32907113 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32907172A>G;NG_028122.1:g.6716T>C;NM_001040436.2:c.780-153T>C 225690376 116033296 pilot_1_YRI_7500059_chr12_32798439 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 CSHL-HAPMAP 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 17454803 11830934 CSHL-HuCC-200402.chr12.NT_009714.16_25666434 1.39e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 24368431 11830934 afd2027679 1.39e-01 2004.08.21 2004.09.13 2004.02.28 2012.11.28 137 ABI 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 38922607 11830934 hCV8150404 1.39e-01 2005.07.16 2006.11.02 2004.02.28 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 66191757 11830934 SNP_A-2255256 1.39e-01 2006.10.27 2008.03.31 2004.02.28 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 76268579 11830934 AFFY_6_1M_SNP_A-2255256 1.39e-01 2007.08.30 2010.03.07 2004.02.28 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 82922764 11830934 KHS355269 1.39e-01 2007.12.03 2007.12.03 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 111765396 11830934 CEU.trio.12.15.2008_2713596_chr12_32798727 1.39e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 113389427 11830934 NA19240_2008_12_16_2440124_chr12_32798727 1.39e-01 2008.12.18 2008.12.18 2004.02.28 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 118699806 11830934 NA18507_000044253_NCBI36.1_chr12_32798727 1.39e-01 2009.01.21 2009.01.21 2004.02.28 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 161518732 11830934 ENSSNP731557 1.39e-01 2009.09.25 2009.09.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 169540781 11830934 NA19240_36_chr12_32798727 1.39e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 170716627 11830934 NA20431_36_chr12_32798727 1.39e-01 2009.10.01 2009.10.05 2004.02.28 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 173046204 11830934 GenomeWideSNP_5_SNP_A-2255256 1.39e-01 2009.10.02 2009.10.02 2004.02.28 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 197991382 11830934 BUSHMAN-chr12-32798726 1.39e-01 2010.03.05 2010.03.05 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 225690377 11830934 pilot_1_YRI_7500060_chr12_32798727 1.39e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 235890866 11830934 pilot_1_CEU_5495495_chr12_32798727 1.39e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 242456574 11830934 pilot_1_CHB+JPT_4341651_chr12_32798727 1.39e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32907460T>C;NG_028122.1:g.6428A>G;NM_001040436.2:c.780-441A>G 281342148 11830934 GMI_AK_SNP_5662537 1.39e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 24368435 17541794 afd2027678 1.28e-01 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 66139220 17541794 SNP_A-2098073 1.28e-01 2006.10.27 2008.03.31 2004.09.20 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 76154948 17541794 AFFY_6_1M_SNP_A-2098073 1.28e-01 2007.08.30 2010.03.07 2004.09.20 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 83254415 17541794 KHS429733 1.28e-01 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 111765403 17541794 CEU.trio.12.15.2008_2713597_chr12_32798866 1.28e-01 2008.12.17 2008.12.17 2004.09.20 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 113389437 17541794 NA19240_2008_12_16_2440125_chr12_32798866 1.28e-01 2008.12.18 2008.12.18 2004.09.20 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 118699811 17541794 NA18507_000044254_NCBI36.1_chr12_32798866 1.28e-01 2009.01.21 2009.01.21 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 169540800 17541794 NA19240_36_chr12_32798866 1.28e-01 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 170716637 17541794 NA20431_36_chr12_32798866 1.28e-01 2009.10.01 2009.10.05 2004.09.20 2012.11.28 137 AFFY 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 172660086 17541794 GenomeWideSNP_5_SNP_A-2098073 1.28e-01 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 197991387 17541794 BUSHMAN-chr12-32798865 1.28e-01 2010.03.05 2010.03.05 2004.09.20 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 225690378 17541794 pilot_1_YRI_7500061_chr12_32798866 1.28e-01 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 235890867 17541794 pilot_1_CEU_5495496_chr12_32798866 1.28e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 242456575 17541794 pilot_1_CHB+JPT_4341652_chr12_32798866 1.28e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 281342149 17541794 GMI_AK_SNP_5662538 1.28e-01 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 483056703 17541794 HumanOmni2.5-4v1_B_SNP12-32798866-0_B_R_1635068869 1.28e-01 2012.02.02 2012.02.02 2004.09.20 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32907599G>A;NG_028122.1:g.6289C>T;NM_001040436.2:c.779+431C>T 483177600 17541794 HumanOmni2.5-4v1_D_kgp3471499-0_B_R_1803331197 1.28e-01 2012.02.02 2012.02.02 2004.09.20 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32907663T>G;NG_028122.1:g.6225A>C;NM_001040436.2:c.779+367A>C 133093063 78092109 ENSSNP10584079 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 ILLUMINA-UK 51067 NC_000012.11:g.32907673A>C;NG_028122.1:g.6215T>G;NM_001040436.2:c.779+357T>G 118699816 73088891 NA18507_000044255_NCBI36.1_chr12_32798940 1.28e-01 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907673A>C;NG_028122.1:g.6215T>G;NM_001040436.2:c.779+357T>G 169540813 73088891 NA19240_36_chr12_32798940 1.28e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907673A>C;NG_028122.1:g.6215T>G;NM_001040436.2:c.779+357T>G 170716648 73088891 NA20431_36_chr12_32798940 1.28e-01 2009.10.01 2009.10.05 2009.02.14 2012.11.28 137 GMI 51067 NC_000012.11:g.32907673A>C;NG_028122.1:g.6215T>G;NM_001040436.2:c.779+357T>G 281342150 73088891 GMI_AK_SNP_5662539 1.28e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907673A>C;NG_028122.1:g.6215T>G;NM_001040436.2:c.779+357T>G 337259404 73088891 20100804_snps_8902945_chr12_32907673 1.28e-01 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907696T>G;NG_028122.1:g.6192A>C;NM_001040436.2:c.779+334A>C 337259405 143330547 20100804_snps_8902946_chr12_32907696 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32907708G>T;NG_028122.1:g.6180C>A;NM_001040436.2:c.779+322C>A 337259406 148382511 20100804_snps_8902947_chr12_32907708 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32907752G>A;NG_028122.1:g.6136C>T;NM_001040436.2:c.779+278C>T 462792445 192713311 20101123_snps_8959675_chr12_32907752 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32907786T>C;NG_028122.1:g.6102A>G;NM_001040436.2:c.779+244A>G 169540829 112827061 NA19240_36_chr12_32799053 2.30e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907786T>C;NG_028122.1:g.6102A>G;NM_001040436.2:c.779+244A>G 337259407 112827061 20100804_snps_8902948_chr12_32907786 2.30e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907849T>C;NG_028122.1:g.6039A>G;NM_001040436.2:c.779+181A>G 337259408 146305810 20100804_snps_8902949_chr12_32907849 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32907880G>A;NG_028122.1:g.6008C>T;NM_001040436.2:c.779+150C>T 225690379 76893371 pilot_1_YRI_7500062_chr12_32799147 1.24e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32907901C>T;NG_028122.1:g.5987G>A;NM_001040436.2:c.779+129G>A 235890868 76325735 pilot_1_CEU_5495497_chr12_32799168 1.80e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907979G>C;NG_028122.1:g.5909C>G;NM_001040436.2:c.779+51C>G 462792446 183836837 20101123_snps_8959676_chr12_32907979 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32907997C>A;NG_028122.1:g.5891G>T;NM_001040436.2:c.779+33G>T 462792447 188220316 20101123_snps_8959677_chr12_32907997 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32907997C>A;NG_028122.1:g.5891G>T;NM_001040436.2:c.779+33G>T 491039690 188220316 20110521_exome_547488_chr12_32907997 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908080G>A;NG_028122.1:g.5808C>T;NM_001040436.2:c.729C>T;NP_001035526.1:p.Gly243= 491662891 200451539 SNV-chr12-32799347 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908082C>T;NG_028122.1:g.5806G>A;NM_001040436.2:c.727G>A;NP_001035526.1:p.Gly243Ser 462792448 180744140 20101123_snps_8959678_chr12_32908082 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908082C>T;NG_028122.1:g.5806G>A;NM_001040436.2:c.727G>A;NP_001035526.1:p.Gly243Ser 491039691 180744140 20110521_exome_547489_chr12_32908082 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908134C>T;NG_028122.1:g.5754G>A;NM_001040436.2:c.675G>A;NP_001035526.1:p.Gln225= 342352856 145698585 ESP2500-chr12-32908134 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32908227G>A;NG_028122.1:g.5661C>T;NM_001040436.2:c.582C>T;NP_001035526.1:p.Arg194= 342352857 148921993 ESP2500-chr12-32908227 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CGAP-GAI 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 16226462 11539445 1460670 1.28e-01 2003.11.18 2003.11.22 2004.02.28 2012.11.28 137 APPLERA_GI 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 48429767 11539445 hCV25620533 1.28e-01 2005.11.30 2006.11.03 2004.02.28 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 69106516 11539445 PGP04762499 1.28e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 HGSV 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 82666917 11539445 Cor19240_SNV_20070510.chr12_32799504 1.28e-01 2007.12.03 2007.12.03 2004.02.28 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 118699821 11539445 NA18507_000044256_NCBI36.1_chr12_32799504 1.28e-01 2009.01.21 2009.01.21 2004.02.28 2012.11.28 137 SEATTLESEQ 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 159726018 11539445 YARS2-32799504 1.28e-01 2009.07.10 2009.07.10 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 169540849 11539445 NA19240_36_chr12_32799504 1.28e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 170716659 11539445 NA20431_36_chr12_32799504 1.28e-01 2009.10.01 2009.10.05 2004.02.28 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 197991392 11539445 BUSHMAN-chr12-32799503 1.28e-01 2010.03.05 2010.03.05 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 210814237 11539445 CEU.trio.3.2010_120342_chr12_32799504 1.28e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 211266508 11539445 YRI.trio.3.2010_1093558_chr12_32799504 1.28e-01 2010.03.30 2010.03.30 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 225690380 11539445 pilot_1_YRI_7500063_chr12_32799504 1.28e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 235890869 11539445 pilot_1_CEU_5495498_chr12_32799504 1.28e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 242456576 11539445 pilot_1_CHB+JPT_4341653_chr12_32799504 1.28e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 281342151 11539445 GMI_AK_SNP_5662540 1.28e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 342352858 11539445 ESP2500-chr12-32908237 1.28e-01 2011.03.26 2011.03.26 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 491039692 11539445 20110521_exome_547490_chr12_32908237 1.28e-01 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 491466149 11539445 nonsyn_182375_chr_12_32908237 1.28e-01 2012.03.05 2012.03.05 2004.02.28 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908237C>A;NG_028122.1:g.5651G>T;NM_001040436.2:c.572G>T;NP_001035526.1:p.Gly191Val 491662892 11539445 SNV-chr12-32799504 1.28e-01 2012.03.06 2012.03.12 2004.02.28 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908274T>G;NG_028122.1:g.5614A>C;NM_001040436.2:c.535A>C;NP_001035526.1:p.Lys179Gln 342352859 147630375 ESP2500-chr12-32908274 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32908274T>G;NG_028122.1:g.5614A>C;NM_001040436.2:c.535A>C;NP_001035526.1:p.Lys179Gln 491466150 147630375 nonsyn_182376_chr_12_32908274 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908274T>G;NG_028122.1:g.5614A>C;NM_001040436.2:c.535A>C;NP_001035526.1:p.Lys179Gln 491662893 147630375 SNV-chr12-32799541 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908303G>A;NG_028122.1:g.5585C>T;NM_001040436.2:c.506C>T;NP_001035526.1:p.Thr169Ile 488989368 199769247 20110521_exome_169823_chr12_32908303 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CGAP-GAI 51067 NC_000012.11:g.32908352C>T;NG_028122.1:g.5536G>A;NM_001040436.2:c.457G>A;NP_001035526.1:p.Ala153Thr 16226464 11539447 1460672 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32908353C>T;NG_028122.1:g.5535G>A;NM_001040436.2:c.456G>A;NP_001035526.1:p.Ala152= 488989370 201940521 20110521_exome_169824_chr12_32908353 1.80e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908353C>T;NG_028122.1:g.5535G>A;NM_001040436.2:c.456G>A;NP_001035526.1:p.Ala152= 491662894 201940521 SNV-chr12-32799620 1.80e-03 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CGAP-GAI 51067 NC_000012.11:g.32908358G>T;NG_028122.1:g.5530C>A;NM_001040436.2:c.451C>A;NP_001035526.1:p.Leu151Met 16226463 11539446 1460671 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32908364C>G;NG_028122.1:g.5524G>C;NM_001040436.2:c.445G>C;NP_001035526.1:p.Glu149Gln 342352860 142171896 ESP2500-chr12-32908364 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32908467G>A;NG_028122.1:g.5421C>T;NM_001040436.2:c.342C>T;NP_001035526.1:p.Gly114= 225690381 115606831 pilot_1_YRI_7500064_chr12_32799734 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908467G>A;NG_028122.1:g.5421C>T;NM_001040436.2:c.342C>T;NP_001035526.1:p.Gly114= 342352861 115606831 ESP2500-chr12-32908467 3.70e-03 2011.03.26 2011.03.26 2010.07.14 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32908467G>A;NG_028122.1:g.5421C>T;NM_001040436.2:c.342C>T;NP_001035526.1:p.Gly114= 481753001 115606831 HumanOmni2.5-4v1_D_kgp18878950-0_B_R_1829401810 3.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32908467G>A;NG_028122.1:g.5421C>T;NM_001040436.2:c.342C>T;NP_001035526.1:p.Gly114= 483056705 115606831 HumanOmni2.5-4v1_B_SNP12-32799734-0_B_R_1646599729 3.70e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908467G>A;NG_028122.1:g.5421C>T;NM_001040436.2:c.342C>T;NP_001035526.1:p.Gly114= 491039693 115606831 20110521_exome_547491_chr12_32908467 3.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908485C>A;NG_028122.1:g.5403G>T;NM_001040436.2:c.324G>T;NP_001035526.1:p.Val108= 488989372 200731007 20110521_exome_169825_chr12_32908485 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CGAP-GAI 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 16226461 11539444 1460669 1.28e-01 2003.11.18 2003.11.22 2004.02.28 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 24368442 11539444 afd2027677 1.28e-01 2004.08.21 2004.09.13 2004.02.28 2012.11.28 137 APPLERA_GI 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 48430605 11539444 hCV25620532 1.28e-01 2005.11.30 2006.11.03 2004.02.28 2012.11.28 137 HGSV 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 82970015 11539444 Cor19240_SNV_20070510.chr12_32799785 1.28e-01 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 113389445 11539444 NA19240_2008_12_16_2440126_chr12_32799785 1.28e-01 2008.12.18 2008.12.18 2004.02.28 2012.11.28 137 SEATTLESEQ 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 159726019 11539444 YARS2-32799785 1.28e-01 2009.07.10 2009.07.10 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 169540862 11539444 NA19240_36_chr12_32799785 1.28e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 170716671 11539444 NA20431_36_chr12_32799785 1.28e-01 2009.10.01 2009.10.05 2004.02.28 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 197991397 11539444 BUSHMAN-chr12-32799784 1.28e-01 2010.03.05 2010.03.05 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 225690382 11539444 pilot_1_YRI_7500065_chr12_32799785 1.28e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 235890871 11539444 pilot_1_CEU_5495500_chr12_32799785 1.28e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 281342152 11539444 GMI_AK_SNP_5662541 1.28e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 342352862 11539444 ESP2500-chr12-32908518 1.28e-01 2011.03.26 2011.03.26 2004.02.28 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 479565410 11539444 HumanOmni2.5-4v1_D_kgp11109217-0_B_R_1803120233 1.28e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 483056707 11539444 HumanOmni2.5-4v1_B_SNP12-32799785-0_B_R_1627043604 1.28e-01 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 491039694 11539444 20110521_exome_547492_chr12_32908518 1.28e-01 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908518G>A;NG_028122.1:g.5370C>T;NM_001040436.2:c.291C>T;NP_001035526.1:p.Gly97= 491662895 11539444 SNV-chr12-32799785 1.28e-01 2012.03.06 2012.03.12 2004.02.28 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908522A>C;NG_028122.1:g.5366T>G;NM_001040436.2:c.287T>G;NP_001035526.1:p.Leu96Arg 342352863 141193661 ESP2500-chr12-32908522 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32908607C>T;NG_028122.1:g.5281G>A;NM_001040436.2:c.202G>A;NP_001035526.1:p.Gly68Ser 342352864 150304121 ESP2500-chr12-32908607 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908607C>T;NG_028122.1:g.5281G>A;NM_001040436.2:c.202G>A;NP_001035526.1:p.Gly68Ser 491662896 150304121 SNV-chr12-32799874 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908629C>T;NG_028122.1:g.5259G>A;NM_001040436.2:c.180G>A;NP_001035526.1:p.Glu60= 342352865 137922867 ESP2500-chr12-32908629 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908629C>T;NG_028122.1:g.5259G>A;NM_001040436.2:c.180G>A;NP_001035526.1:p.Glu60= 462792449 137922867 20101123_snps_8959679_chr12_32908629 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908629C>T;NG_028122.1:g.5259G>A;NM_001040436.2:c.180G>A;NP_001035526.1:p.Glu60= 491039695 137922867 20110521_exome_547493_chr12_32908629 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NCBI-CURATED-RECORDS 51067 NM_001040436.2:c.156C>G ARRAY(0x24b9cf50) 537713772 267607180 16095 probable-pathogenic 2012.07.19 2013.01.04 2012.07.19 2013.01.04 137 NHLBI-ESP 51067 NC_000012.11:g.32908705G>T;NG_028122.1:g.5183C>A;NM_001040436.2:c.104C>A;NP_001035526.1:p.Ala35Asp 342352866 149447502 ESP2500-chr12-32908705 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908705G>T;NG_028122.1:g.5183C>A;NM_001040436.2:c.104C>A;NP_001035526.1:p.Ala35Asp 462792450 149447502 20101123_snps_8959680_chr12_32908705 1.80e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908705G>T;NG_028122.1:g.5183C>A;NM_001040436.2:c.104C>A;NP_001035526.1:p.Ala35Asp 491039696 149447502 20110521_exome_547494_chr12_32908705 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 51067 NC_000012.11:g.32908705G>T;NG_028122.1:g.5183C>A;NM_001040436.2:c.104C>A;NP_001035526.1:p.Ala35Asp 491466151 149447502 nonsyn_182377_chr_12_32908705 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 51067 NC_000012.11:g.32908705G>T;NG_028122.1:g.5183C>A;NM_001040436.2:c.104C>A;NP_001035526.1:p.Ala35Asp 491662897 149447502 SNV-chr12-32799972 1.80e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 51067 NC_000012.11:g.32908708C>T;NG_028122.1:g.5180G>A;NM_001040436.2:c.101G>A;NP_001035526.1:p.Gly34Asp 342352867 146395254 ESP2500-chr12-32908708 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32908736G>T;NG_028122.1:g.5152C>A;NM_001040436.2:c.73C>A;NP_001035526.1:p.Pro25Thr 342352868 139758456 ESP2500-chr12-32908736 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 51067 NC_000012.11:g.32908780G>A;NG_028122.1:g.5108C>T;NM_001040436.2:c.29C>T;NP_001035526.1:p.Ser10Phe 342352869 142999358 ESP2500-chr12-32908780 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32908890T>G;NG_028122.1:g.4998A>C;NM_001040436.2:c.-82A>C 337259409 139468343 20100804_snps_8902950_chr12_32908890 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 5014376 3827883 IMS-JST189326 1.24e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 SC_SNP 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 15820230 3827883 NT_009714.16_25667935 1.24e-01 2003.11.17 2003.11.22 2002.08.28 2012.11.28 137 HGSV 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 81186393 3827883 Cor18507_SNV_20070510.chr12_32800228 1.24e-01 2007.11.28 2007.11.28 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 111765420 3827883 CEU.trio.12.15.2008_2713599_chr12_32800228 1.24e-01 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 118699824 3827883 NA18507_000044257_NCBI36.1_chr12_32800228 1.24e-01 2009.01.21 2009.01.21 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 169540878 3827883 NA19240_36_chr12_32800228 1.24e-01 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 170716682 3827883 NA20431_36_chr12_32800228 1.24e-01 2009.10.01 2009.10.05 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 211266510 3827883 YRI.trio.3.2010_1093559_chr12_32800228 1.24e-01 2010.03.30 2010.03.30 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 225690383 3827883 pilot_1_YRI_7500066_chr12_32800228 1.24e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 235890872 3827883 pilot_1_CEU_5495501_chr12_32800228 1.24e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 242456577 3827883 pilot_1_CHB+JPT_4341654_chr12_32800228 1.24e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 281342153 3827883 GMI_AK_SNP_5662542 1.24e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 51067 NC_000012.11:g.32908961C>G;NG_028122.1:g.4927G>C;NM_001040436.2:c.-153G>C 291417561 3827883 SNP_923919_chr12_32800228 1.24e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32908966C>T;NG_028122.1:g.4922G>A;NM_001040436.2:c.-158G>A 337259410 142763020 20100804_snps_8902951_chr12_32908966 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32908983C>T;NG_028122.1:g.4905G>A;NM_001040436.2:c.-175G>A 337259411 146104705 20100804_snps_8902952_chr12_32908983 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32909080C>T;NG_028122.1:g.4808G>A;NM_001040436.2:c.-272G>A 462792451 182144453 20101123_snps_8959681_chr12_32909080 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 1302108 877129 TSC0209586 2.11e-02 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 WI_SSAHASNP 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 12214285 877129 chr12.NT_009714.15_25668214 2.11e-02 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 ABI 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 38960821 877129 hCV7516078 2.11e-02 2005.07.16 2006.11.02 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 75109712 877129 ILMN_Human_1M_rs877129 2.11e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 118699831 877129 NA18507_000044258_NCBI36.1_chr12_32800507 2.11e-02 2009.01.21 2009.01.21 2000.10.05 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 119371413 877129 KHS1533660 2.11e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 160961256 877129 HumanOmni1-Quad_v1-0_B_rs877129-128_B_R_1514088156 2.11e-02 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 174761226 877129 Human1M-Duov3_B_rs877129-126_B_R_1514088156 2.11e-02 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 225690384 877129 pilot_1_YRI_7500067_chr12_32800507 2.11e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 481819962 877129 HumanOmni2.5-4v1_B_rs877129-128_B_R_1514088156 2.11e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 481852496 877129 HumanOmniExpress-12v1_C_rs877129-131_B_R_1857541289 2.11e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 482812546 877129 HumanOmni1-Quad_v1-0_C_rs877129-131_B_R_1865669268 2.11e-02 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909240G>T;NG_028122.1:g.4648C>A;NM_001040436.2:c.-432C>A 485704578 877129 HumanOmni2.5-4v1_D_rs877129-131_B_R_1857541289 2.11e-02 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909273G>A;NG_028122.1:g.4615C>T;NM_001040436.2:c.-465C>T 462792452 186729794 20101123_snps_8959682_chr12_32909273 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32909534C>T;NG_028122.1:g.4354G>A;NM_001040436.2:c.-726G>A 462792453 191627450 20101123_snps_8959683_chr12_32909534 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32909575G>C;NG_028122.1:g.4313C>G;NM_001040436.2:c.-767C>G 337259412 139751233 20100804_snps_8902953_chr12_32909575 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32909593C>A;NG_028122.1:g.4295G>T;NM_001040436.2:c.-785G>T 337259413 149724473 20100804_snps_8902954_chr12_32909593 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32909604T>C;NG_028122.1:g.4284A>G;NM_001040436.2:c.-796A>G 337259414 145546268 20100804_snps_8902955_chr12_32909604 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32909655C>T;NG_028122.1:g.4233G>A;NM_001040436.2:c.-847G>A 462792454 182703424 20101123_snps_8959684_chr12_32909655 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 51067 NC_000012.11:g.32909677T>A;NG_028122.1:g.4211A>T;NM_001040436.2:c.-869A>T 85645276 60274690 Cor18517_SNV_20070510.chr12_32800944 1.37e-02 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32909677T>A;NG_028122.1:g.4211A>T;NM_001040436.2:c.-869A>T 197991402 60274690 BUSHMAN-chr12-32800943 1.37e-02 2010.03.05 2010.03.05 2007.12.15 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909677T>A;NG_028122.1:g.4211A>T;NM_001040436.2:c.-869A>T 225690385 60274690 pilot_1_YRI_7500068_chr12_32800944 1.37e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 TSC-CSHL 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 2271975 1454932 TSC0685655 8.52e-02 2000.10.20 2006.10.25 2000.10.23 2012.11.28 137 CSHL-HAPMAP 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 17459799 1454932 CSHL-HuCC-200402.chr12.NT_009714.16_25668820 8.52e-02 2004.02.19 2006.10.26 2000.10.23 2012.11.28 137 ABI 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 38938451 1454932 hCV7516070 8.52e-02 2005.07.16 2005.07.16 2000.10.23 2012.11.28 137 PERLEGEN 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 69106517 1454932 PGP13161946 8.52e-02 2007.01.30 2007.08.14 2000.10.23 2012.11.28 137 AFFY 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 76463213 1454932 AFFY_6_1M_SNP_A-8324201 8.52e-02 2007.08.30 2007.08.30 2000.10.23 2012.11.28 137 HGSV 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 81394534 1454932 Cor18507_SNV_20070510.chr12_32801113 8.52e-02 2007.11.29 2007.11.29 2000.10.23 2012.11.28 137 KRIBB_YJKIM 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 104845476 1454932 KHS1237794 8.52e-02 2008.07.10 2008.07.10 2000.10.23 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 111765427 1454932 CEU.trio.12.15.2008_2713600_chr12_32801113 8.52e-02 2008.12.17 2008.12.17 2000.10.23 2012.11.28 137 ILLUMINA-UK 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 118699834 1454932 NA18507_000044259_NCBI36.1_chr12_32801113 8.52e-02 2009.01.21 2009.01.21 2000.10.23 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 161518734 1454932 ENSSNP731558 8.52e-02 2009.09.25 2010.03.07 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 170716692 1454932 NA20431_36_chr12_32801113 8.52e-02 2009.10.01 2009.10.05 2000.10.23 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 211266512 1454932 YRI.trio.3.2010_1093560_chr12_32801113 8.52e-02 2010.03.30 2010.03.30 2000.10.23 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 225690386 1454932 pilot_1_YRI_7500069_chr12_32801113 8.52e-02 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 235890873 1454932 pilot_1_CEU_5495502_chr12_32801113 8.52e-02 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 GMI 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 281342154 1454932 GMI_AK_SNP_5662543 8.52e-02 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 483056709 1454932 HumanOmni2.5-4v1_B_SNP12-32801113-0_T_R_1627004963 8.52e-02 2012.02.02 2012.02.02 2000.10.23 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32909846T>C;NG_028122.1:g.4042A>G;NM_001040436.2:c.-1038A>G 483776088 1454932 HumanOmni2.5-4v1_D_kgp6718256-0_T_R_1803334641 8.52e-02 2012.02.03 2012.02.03 2000.10.23 2012.11.28 137 GMI 51067 NC_000012.11:g.32909969C>T;NG_028122.1:g.3919G>A;NM_001040436.2:c.-1161G>A 157317375 74714801 GMI_SNP_492330666 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 51067 NC_000012.11:g.32909969C>T;NG_028122.1:g.3919G>A;NM_001040436.2:c.-1161G>A 281342155 74714801 GMI_AK_SNP_5662544 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 51067 NC_000012.11:g.32909970A>C;NG_028122.1:g.3918T>G;NM_001040436.2:c.-1162T>G 157317385 79968988 GMI_SNP_492388271 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 51067 NC_000012.11:g.32909970A>C;NG_028122.1:g.3918T>G;NM_001040436.2:c.-1162T>G 281342156 79968988 GMI_AK_SNP_5662545 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32909985T>G;NG_028122.1:g.3903A>C;NM_001040436.2:c.-1177A>C 133093066 75896764 ENSSNP10584080 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 ENSEMBL 51067 NC_000012.11:g.32909986G>T;NG_028122.1:g.3902C>A;NM_001040436.2:c.-1178C>A 133093069 75533563 ENSSNP10584081 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32910048A>G;NG_028122.1:g.3840T>C;NM_001040436.2:c.-1240T>C 225690387 75063782 pilot_1_YRI_7500070_chr12_32801315 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32910052C>G;NG_028122.1:g.3836G>C;NM_001040436.2:c.-1244G>C 337259415 148483515 20100804_snps_8902956_chr12_32910052 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32910081T>C;NG_028122.1:g.3807A>G;NM_001040436.2:c.-1273A>G 462792455 185561577 20101123_snps_8959685_chr12_32910081 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32910188C>T;NG_028122.1:g.3700G>A;NM_001040436.2:c.-1380G>A 462792456 189967024 20101123_snps_8959686_chr12_32910188 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32910239_32910240insTTCTTTCATGTTATTA;NG_028122.1:g.3648_3649insTAATAACATGAAAGAA;NM_001040436.2:c.-1432_-1431insTAATAACATGAAAGAA 327520148 149539046 CEU_chr12_32801506_indel 1.78e-01 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910239_32910240insTTCTTTCATGTTATTA;NG_028122.1:g.3648_3649insTAATAACATGAAAGAA;NM_001040436.2:c.-1432_-1431insTAATAACATGAAAGAA 327958917 149539046 YRI_chr12_32801506_indel 1.78e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910239_32910240insTTCTTTCATGTTATTA;NG_028122.1:g.3648_3649insTAATAACATGAAAGAA;NM_001040436.2:c.-1432_-1431insTAATAACATGAAAGAA 499715530 149539046 20110316_indels_chr12_32910239_32910240 1.78e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910273G>A;NG_028122.1:g.3615C>T;NM_001040436.2:c.-1465C>T 113389452 73298089 NA19240_2008_12_16_2440127_chr12_32801540 6.46e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32910273G>A;NG_028122.1:g.3615C>T;NM_001040436.2:c.-1465C>T 169540893 73298089 NA19240_36_chr12_32801540 6.46e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910273G>A;NG_028122.1:g.3615C>T;NM_001040436.2:c.-1465C>T 225690390 73298089 pilot_1_YRI_7500073_chr12_32801540 6.46e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910273G>A;NG_028122.1:g.3615C>T;NM_001040436.2:c.-1465C>T 235890874 73298089 pilot_1_CEU_5495503_chr12_32801540 6.46e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ENSEMBL 51067 NC_000012.11:g.32910286G>T;NG_028122.1:g.3602C>A;NM_001040436.2:c.-1478C>A 133093072 75432185 ENSSNP10584082 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 ABI 51067 NC_000012.11:g.32910287delT;NG_028122.1:g.3601delA;NM_001040436.2:c.-1479delA 40117208 35405695 hCV33717240 2005.07.16 2005.07.16 2006.03.15 2011.07.08 137 ENSEMBL 51067 NC_000012.11:g.32910287T>G;NG_028122.1:g.3601A>C;NM_001040436.2:c.-1479A>C 133093075 76255473 ENSSNP10584083 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32910499C>T;NG_028122.1:g.3389G>A;NM_001040436.2:c.-1691G>A 225690391 114216546 pilot_1_YRI_7500074_chr12_32801766 1.37e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32910574G>A;NG_028122.1:g.3314C>T;NM_001040436.2:c.-1766C>T 462792457 182247184 20101123_snps_8959687_chr12_32910574 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 51067 NC_000012.11:g.32910699C>T;NG_028122.1:g.3189G>A;NM_001040436.2:c.-1891G>A 337259416 142644908 20100804_snps_8902957_chr12_32910699 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32910804T>C;NG_028122.1:g.3084A>G;NM_001040436.2:c.-1996A>G 337259417 147640363 20100804_snps_8902958_chr12_32910804 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 113389460 73298091 NA19240_2008_12_16_2440128_chr12_32802126 1.24e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 169540910 73298091 NA19240_36_chr12_32802126 1.24e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 197991407 73298091 BUSHMAN-chr12-32802125 1.24e-02 2010.03.05 2010.03.05 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 225690392 73298091 pilot_1_YRI_7500075_chr12_32802126 1.24e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 481748671 73298091 HumanOmni2.5-4v1_D_kgp18862933-0_T_F_1829369778 1.24e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 51067 NC_000012.11:g.32910859A>C;NG_028122.1:g.3029T>G;NM_001040436.2:c.-2051T>G 483056713 73298091 HumanOmni2.5-4v1_B_SNP12-32802126-0_T_F_1636949479 1.24e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 1000GENOMES 51067 NC_000012.11:g.32910869C>T;NG_028122.1:g.3019G>A;NM_001040436.2:c.-2061G>A 225690393 79271295 pilot_1_YRI_7500076_chr12_32802136 2.29e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32910869C>T;NG_028122.1:g.3019G>A;NM_001040436.2:c.-2061G>A 235890876 79271295 pilot_1_CEU_5495505_chr12_32802136 2.29e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 51067 NC_000012.11:g.32910870G>A;NG_028122.1:g.3018C>T;NM_001040436.2:c.-2062C>T 225690394 114449423 pilot_1_YRI_7500077_chr12_32802137 1.24e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 # Report date: 2013.2.9, Gene: YARS2 (51067), ss count: 669, rs count: 232.