# 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 2348 462340457 187487171 20101123_snps_8507687_chr11_71898628 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 336813996 147420843 20100804_snps_8457537_chr11_71898661 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 2348 NG_015863.1:g.3143C>T;NT_167190.1:g.17204539C>T 202865954 113847566 BUSHMAN-chr11-71576391 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 2348 462340458 191998891 20101123_snps_8507688_chr11_71898991 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340459 184860664 20101123_snps_8507689_chr11_71899069 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340460 189283402 20101123_snps_8507690_chr11_71899196 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.3665C>T;NT_167190.1:g.17205061C>T 336813997 113107673 20100804_snps_8457538_chr11_71899266 5.30e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 COMPLETE_GENOMICS 2348 NG_015863.1:g.3665C>T;NT_167190.1:g.17205061C>T 170212112 113107673 NA19240_36_chr11_71576914 5.30e-02 2009.10.01 2009.10.01 2010.07.04 2011.09.09 132 1000GENOMES 2348 462340461 180878889 20101123_snps_8507691_chr11_71899369 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340462 184125901 20101123_snps_8507692_chr11_71899464 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340463 189932843 20101123_snps_8507693_chr11_71899515 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.3959G>A;NT_167190.1:g.17205355G>A 225307370 74611306 pilot_1_YRI_7117053_chr11_71577208 2.79e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2348 NG_015863.1:g.3959G>A;NT_167190.1:g.17205355G>A 235607440 74611306 pilot_1_CEU_5212069_chr11_71577208 2.79e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 2348 336813998 143678022 20100804_snps_8457539_chr11_71899632 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 336813999 72477719 20100804_snps_8457540_chr11_71899681 2011.03.22 2011.03.22 2009.02.14 2011.10.06 132 BGI 2348 102975482 72477719 BGI_YHSNP0022887 2008.06.05 2009.10.20 2009.02.14 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.4098T>C;NT_167190.1:g.17205494T>C 462340464 56666776 20101123_snps_8507694_chr11_71899699 2011.07.20 2011.07.20 2007.12.14 2011.10.06 132 HGSV 2348 NG_015863.1:g.4098T>C;NT_167190.1:g.17205494T>C 81177733 56666776 Cor18507_SNV_20070510.chr11_71577347 2007.11.28 2007.11.28 2007.12.14 2011.10.06 132 ILLUMINA-UK 2348 NG_015863.1:g.4098T>C;NT_167190.1:g.17205494T>C 119888062 56666776 NA18507_000090797_NCBI36.1_chr11_71577347 2009.02.05 2009.02.05 2007.12.14 2011.10.06 132 1000GENOMES 2348 NT_167190.1:g.17205524T>C 225307372 114254850 pilot_1_YRI_7117055_chr11_71577377 7.77e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 2348 242230276 72477720 pilot_1_CHB+JPT_4115353_chr11_71577394 2010.05.01 2010.05.01 2009.02.14 2011.10.06 132 BGI 2348 102975483 72477720 BGI_YHSNP0022888 2008.06.05 2009.10.20 2009.02.14 2011.10.06 132 BUSHMAN 2348 NG_015863.1:g.4202G>T;NT_167190.1:g.17205598G>T 202865959 113678332 BUSHMAN-chr11-71577450 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 ABI 2348 NG_015863.1:g.4401_4402insT;NT_167190.1:g.17205797_17205798insT 40052690 34219351 hCV34432906 2005.07.16 2005.07.16 2006.03.13 2011.07.08 132 DEVINE_LAB 2348 NG_015863.1:g.4403_4404insT;NT_167190.1:g.17205799_17205800insT 8051846 5792579 INDEL_GP31_125015 2003.04.16 2003.10.10 2003.04.21 2011.07.08 132 ILLUMINA 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 75200094 34400244 ILMN_Human_1M_rs34400244 2007.08.29 2007.08.29 2006.03.14 2011.09.09 132 ILLUMINA 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 154259562 34400244 Human610_Quadv1_B_rs34400244-127_B_F_1514175780 2009.06.20 2009.06.20 2006.03.14 2011.09.09 132 ILLUMINA 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 159436072 34400244 Human660W-Quad_v1_A_rs34400244-128_B_F_1514175780 2009.07.07 2009.07.07 2006.03.14 2011.09.09 132 ILLUMINA 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 160621571 34400244 HumanOmni1-Quad_v1-0_B_rs34400244-128_B_F_1514175780 2009.08.06 2009.10.04 2006.03.14 2011.09.09 132 ILLUMINA 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 173588645 34400244 Human1M-Duov3_B_rs34400244-127_B_F_1514175780 2009.10.04 2009.10.04 2006.03.14 2011.09.09 132 KRIBB_YJKIM 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 119910492 34400244 KHS1913448 2009.02.05 2009.02.05 2006.03.14 2011.09.09 132 RIKENSNPRC 2348 NG_015863.1:g.4430C>T;NT_167190.1:g.17205826C>T 49847954 34400244 ssj0009171 2005.12.06 2005.12.06 2006.03.14 2011.09.09 132 1000GENOMES 2348 NG_015863.1:g.4477A>C;NT_167190.1:g.17205873A>C 225307373 78840371 pilot_1_YRI_7117056_chr11_71577726 8.23e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2348 462340465 186460100 20101123_snps_8507695_chr11_71900085 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340466 190758618 20101123_snps_8507696_chr11_71900238 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 2348 NG_015863.1:g.4739_4740insG;NT_167190.1:g.17206135_17206136insG 39918515 34989500 hCV34432913 2005.07.16 2005.07.16 2006.03.14 2011.07.08 132 1000GENOMES 2348 462340467 181595620 20101123_snps_8507697_chr11_71900390 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.4811G>A;NT_167190.1:g.17206207G>A 225307374 76928642 pilot_1_YRI_7117057_chr11_71578060 1.97e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2348 NG_015863.1:g.4811G>A;NT_167190.1:g.17206207G>A 242230277 76928642 pilot_1_CHB+JPT_4115354_chr11_71578060 1.97e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 BGI 2348 NG_015863.1:g.4811G>A;NT_167190.1:g.17206207G>A 102975484 76928642 BGI_YHSNP0022889 1.97e-02 2008.06.05 2009.10.20 2009.12.01 2011.07.08 132 1000GENOMES 2348 462340468 186570685 20101123_snps_8507698_chr11_71900433 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 MPI_MOLGEN 2348 469209939 189949559 Chromosome11_71578232 2011.08.15 2011.08.15 2011.09.17 2011.09.17 132 1000GENOMES 2348 462340469 190839151 20101123_snps_8507699_chr11_71900781 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 2348 NM_016724.2:c.-75+47C>T;NG_015863.1:g.5249C>T;NM_016724.2:c.-75+47C>T;NT_167190.1:g.17206645C>T;NM_016725.2:c.-9+47C>T;NT_167190.1:g.17206645C>T 202865963 113948053 BUSHMAN-chr11-71578497 2010.03.08 2010.03.08 2010.07.04 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 110644129 2071010 CEU.trio.12.15.2008_2568738_chr11_71578612 8.32e-02 2008.12.17 2008.12.17 2001.06.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 235607441 2071010 pilot_1_CEU_5212070_chr11_71578612 8.32e-02 2010.05.01 2010.05.01 2001.06.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 242230278 2071010 pilot_1_CHB+JPT_4115355_chr11_71578612 8.32e-02 2010.05.01 2010.05.01 2001.06.15 2011.09.09 132 AFFY 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 66181744 2071010 SNP_A-2226288 8.32e-02 2006.10.27 2007.08.14 2001.06.15 2011.09.09 132 AFFY 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 76247356 2071010 AFFY_6_1M_SNP_A-2226288 8.32e-02 2007.08.30 2007.08.30 2001.06.15 2011.09.09 132 BGI 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 102975485 2071010 BGI_rs2071010 8.32e-02 2008.06.05 2009.10.20 2001.06.15 2011.09.09 132 ENSEMBL 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 142491244 2071010 ENSSNP3760960 8.32e-02 2009.06.05 2009.10.16 2001.06.15 2011.09.09 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 97488326 2071010 1103649721188 8.32e-02 2008.03.29 2010.03.07 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 75088394 2071010 ILMN_Human_1M_rs2071010 8.32e-02 2007.08.29 2007.08.29 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 153843404 2071010 Human610_Quadv1_B_rs2071010-128_B_R_1514039320 8.32e-02 2009.06.19 2009.06.20 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 159355854 2071010 Human660W-Quad_v1_A_rs2071010-128_B_R_1514039320 8.32e-02 2009.07.07 2009.07.07 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 160497734 2071010 HumanOmni1-Quad_v1-0_B_rs2071010-128_B_R_1514039320 8.32e-02 2009.08.06 2009.10.02 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 173095576 2071010 Human1M-Duov3_B_rs2071010-128_B_R_1514039320 8.32e-02 2009.10.03 2009.10.03 2001.06.15 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 244286825 2071010 CVDSNP55v1_A_rs2071010 8.32e-02 2010.06.10 2010.06.10 2001.06.15 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 65837502 2071010 KHS13294 8.32e-02 2006.10.17 2006.12.16 2001.06.15 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 81679738 2071010 KHS123967 8.32e-02 2007.12.01 2007.12.01 2001.06.15 2011.09.09 132 PERLEGEN 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 24083741 2071010 afd1704770 8.32e-02 2004.08.21 2004.09.13 2001.06.15 2011.09.09 132 PERLEGEN 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 69320255 2071010 PGP01704770 8.32e-02 2007.01.30 2007.08.14 2001.06.15 2011.09.09 132 YUSUKE 2348 NM_000802.3:c.-20G>A;NT_167190.1:g.17206759G>A;NM_016724.2:c.-75+161G>A;NG_015863.1:g.5363G>A;NM_016724.2:c.-75+161G>A;NT_167190.1:g.17206759G>A;NM_016725.2:c.-9+161G>A;NT_167190.1:g.17206759G>A 2984485 2071010 IMS-JST006282 8.32e-02 2001.05.24 2003.10.10 2001.06.15 2011.09.09 132 1000GENOMES 2348 336814001 141193495 20100804_snps_8457542_chr11_71900989 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 462340470 182931367 20101123_snps_8507700_chr11_71901027 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-9+53A>C;NT_167190.1:g.17206823A>C;NM_016724.2:c.-75+225A>C;NG_015863.1:g.5427A>C;NM_016724.2:c.-75+225A>C;NT_167190.1:g.17206823A>C;NM_016725.2:c.-9+225A>C;NT_167190.1:g.17206823A>C 462340471 113037141 20101123_snps_8507701_chr11_71901028 1.37e-03 2011.07.20 2011.07.20 2010.07.04 2011.10.06 132 BUSHMAN 2348 NM_000802.3:c.-9+53A>C;NT_167190.1:g.17206823A>C;NM_016724.2:c.-75+225A>C;NG_015863.1:g.5427A>C;NM_016724.2:c.-75+225A>C;NT_167190.1:g.17206823A>C;NM_016725.2:c.-9+225A>C;NT_167190.1:g.17206823A>C 202865966 113037141 BUSHMAN-chr11-71578675 1.37e-03 2010.03.08 2010.03.08 2010.07.04 2011.10.06 132 1000GENOMES 2348 462340472 190961412 20101123_snps_8507702_chr11_71901034 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-9+153G>A;NT_167190.1:g.17206923G>A;NM_016724.2:c.-75+325G>A;NT_167190.1:g.17206923G>A;NM_016725.2:c.-9+325G>A;NT_167190.1:g.17206923G>A 235607442 117787264 pilot_1_CEU_5212071_chr11_71578776 3.29e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 2348 462340473 183115377 20101123_snps_8507703_chr11_71901229 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 242230279 499087 pilot_1_CHB+JPT_4115356_chr11_71578892 8.23e-03 2010.05.01 2010.05.01 2000.08.11 2011.09.09 132 ABI 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 38723782 499087 hCV1061070 8.23e-03 2005.07.16 2006.11.02 2000.08.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 75132850 499087 ILMN_Human_1M_rs499087 8.23e-03 2007.08.29 2007.08.29 2000.08.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 173904252 499087 Human1M-Duov3_B_rs499087-127_B_R_1514109812 8.23e-03 2009.10.04 2009.10.04 2000.08.11 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 119355764 499087 KHS1518011 8.23e-03 2009.02.04 2009.02.04 2000.08.11 2011.09.09 132 SC_JCM 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 669002 499087 AP000812.2_30212 8.23e-03 2000.07.27 2003.10.10 2000.08.11 2011.09.09 132 SNP500CANCER 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 12675410 499087 FOLR1-04 8.23e-03 2003.09.05 2003.10.10 2000.08.11 2011.09.09 132 TSC-CSHL 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 1392402 499087 TSC0375490 8.23e-03 2000.09.06 2003.10.10 2000.08.11 2011.09.09 132 TSC-CSHL 2348 NM_000802.3:c.-9+269C>T;NT_167190.1:g.17207039C>T;NM_016724.2:c.-74-376C>T;NG_015863.1:g.5643C>T;NM_016724.2:c.-74-376C>T;NT_167190.1:g.17207039C>T;NM_016725.2:c.-9+441C>T;NT_167190.1:g.17207039C>T 5165721 499087 TSC0417181 8.23e-03 2002.09.19 2006.10.25 2000.08.11 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.-9+339A>T;NT_167190.1:g.17207109A>T;NM_016724.2:c.-74-306A>T;NG_015863.1:g.5713A>T;NM_016724.2:c.-74-306A>T;NT_167190.1:g.17207109A>T;NM_016725.2:c.-9+511A>T;NT_167190.1:g.17207109A>T;NM_016730.1:c.-380A>T 202865970 113628568 BUSHMAN-chr11-71578961 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 2348 327351152 149804122 JPTCHB_chr11_71579109_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2348 327851202 149804122 YRI_chr11_71579109_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 ABI 2348 NM_000802.3:c.-9+487delC;NT_167190.1:g.17207257delC;NM_016724.2:c.-74-158delC;NG_015863.1:g.5861delC;NM_016724.2:c.-74-158delC;NT_167190.1:g.17207257delC;NM_016725.2:c.-9+659delC;NT_167190.1:g.17207257delC;NM_016730.1:c.-232delC 39938230 3833748 hCV34432921 2005.07.16 2005.07.16 2002.08.28 2011.07.08 132 SNP500CANCER 2348 NM_000802.3:c.-9+487delC;NT_167190.1:g.17207257delC;NM_016724.2:c.-74-158delC;NG_015863.1:g.5861delC;NM_016724.2:c.-74-158delC;NT_167190.1:g.17207257delC;NM_016725.2:c.-9+659delC;NT_167190.1:g.17207257delC;NM_016730.1:c.-232delC 48294465 3833748 FOLR1-03 2005.08.19 2006.11.03 2002.08.28 2011.07.08 132 YUSUKE 2348 NM_000802.3:c.-9+487delC;NT_167190.1:g.17207257delC;NM_016724.2:c.-74-158delC;NG_015863.1:g.5861delC;NM_016724.2:c.-74-158delC;NT_167190.1:g.17207257delC;NM_016725.2:c.-9+659delC;NT_167190.1:g.17207257delC;NM_016730.1:c.-232delC 5020257 3833748 IMS-JST102893 2002.08.12 2003.10.10 2002.08.28 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.-9+491delC;NT_167190.1:g.17207261delC;NM_016724.2:c.-74-154delC;NG_015863.1:g.5865delC;NM_016724.2:c.-74-154delC;NT_167190.1:g.17207261delC;NM_016725.2:c.-9+663delC;NT_167190.1:g.17207261delC;NM_016730.1:c.-228delC 8051847 5792580 INDEL_GP31_112746 2003.04.16 2003.10.10 2003.04.21 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.-9+491delC;NT_167190.1:g.17207261delC;NM_016724.2:c.-74-154delC;NG_015863.1:g.5865delC;NM_016724.2:c.-74-154delC;NT_167190.1:g.17207261delC;NM_016725.2:c.-9+663delC;NT_167190.1:g.17207261delC;NM_016730.1:c.-228delC 49958265 5792580 INDEL_GP35_TSC_162407 2006.01.23 2006.01.23 2003.04.21 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.-9+491delC;NT_167190.1:g.17207261delC;NM_016724.2:c.-74-154delC;NG_015863.1:g.5865delC;NM_016724.2:c.-74-154delC;NT_167190.1:g.17207261delC;NM_016725.2:c.-9+663delC;NT_167190.1:g.17207261delC;NM_016730.1:c.-228delC 99708025 5792580 INDEL_GP36_2007a_219127_0 2008.05.05 2008.05.05 2003.04.21 2011.07.08 132 RIKENSNPRC 2348 NM_000802.3:c.-9+491delC;NT_167190.1:g.17207261delC;NM_016724.2:c.-74-154delC;NG_015863.1:g.5865delC;NM_016724.2:c.-74-154delC;NT_167190.1:g.17207261delC;NM_016725.2:c.-9+663delC;NT_167190.1:g.17207261delC;NM_016730.1:c.-228delC 49847960 5792580 ssj0009177 2005.12.06 2005.12.06 2003.04.21 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 211151170 1540087 YRI.trio.3.2010_1036325_chr11_71579139 5.44e-02 2010.03.30 2010.03.30 2000.10.23 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 225307375 1540087 pilot_1_YRI_7117058_chr11_71579139 5.44e-02 2010.04.22 2010.04.22 2000.10.23 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 242230280 1540087 pilot_1_CHB+JPT_4115357_chr11_71579139 5.44e-02 2010.05.01 2010.05.01 2000.10.23 2011.09.09 132 ABI 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 38792990 1540087 hCV8892983 5.44e-02 2005.07.16 2005.07.16 2000.10.23 2011.09.09 132 AFFY 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 66230650 1540087 SNP_A-4259934 5.44e-02 2006.10.28 2006.10.28 2000.10.23 2011.09.09 132 BCM_SSAHASNP 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 10658940 1540087 chr11.NT_033927.5_2100520 5.44e-02 2003.06.30 2003.10.10 2000.10.23 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 75060292 1540087 ILMN_Human_1M_rs1540087 5.44e-02 2007.08.29 2007.08.29 2000.10.23 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 160369278 1540087 HumanOmni1-Quad_v1-0_B_rs1540087-128_T_R_1514031550 5.44e-02 2009.08.06 2009.10.02 2000.10.23 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 172567649 1540087 Human1M-Duov3_B_rs1540087-127_T_R_1514031550 5.44e-02 2009.10.02 2009.10.02 2000.10.23 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 65837147 1540087 KHS12939 5.44e-02 2006.10.17 2006.12.16 2000.10.23 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 81531819 1540087 KHS101506 5.44e-02 2007.11.30 2007.11.30 2000.10.23 2011.09.09 132 PERLEGEN 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 23573613 1540087 afd4336886 5.44e-02 2004.08.20 2004.09.13 2000.10.23 2011.09.09 132 SC_JCM 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 6222268 1540087 NT_033927.2_2597922 5.44e-02 2003.01.12 2003.10.10 2000.10.23 2011.09.09 132 SNP500CANCER 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 12675409 1540087 FOLR1-01 5.44e-02 2003.09.05 2004.04.07 2000.10.23 2011.09.09 132 TSC-CSHL 2348 NM_000802.3:c.-9+516G>A;NT_167190.1:g.17207286G>A;NM_016724.2:c.-74-129G>A;NG_015863.1:g.5890G>A;NM_016724.2:c.-74-129G>A;NT_167190.1:g.17207286G>A;NM_016725.2:c.-9+688G>A;NT_167190.1:g.17207286G>A;NM_016730.1:c.-203G>A 2381794 1540087 TSC0417180 5.44e-02 2000.10.20 2004.04.07 2000.10.23 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+603C>T;NT_167190.1:g.17207373C>T;NM_016724.2:c.-74-42C>T;NG_015863.1:g.5977C>T;NM_016724.2:c.-74-42C>T;NT_167190.1:g.17207373C>T;NM_016725.2:c.-9+775C>T;NT_167190.1:g.17207373C>T;NM_016730.1:c.-116C>T 225307376 9282688 pilot_1_YRI_7117059_chr11_71579226 2.56e-02 2010.04.22 2010.04.22 2003.11.17 2011.07.08 132 SNP500CANCER 2348 NM_000802.3:c.-9+603C>T;NT_167190.1:g.17207373C>T;NM_016724.2:c.-74-42C>T;NG_015863.1:g.5977C>T;NM_016724.2:c.-74-42C>T;NT_167190.1:g.17207373C>T;NM_016725.2:c.-9+775C>T;NT_167190.1:g.17207373C>T;NM_016730.1:c.-116C>T 12674965 9282688 FOLR1-02 2.56e-02 2003.09.05 2006.10.25 2003.11.17 2011.07.08 132 1000GENOMES 2348 462340474 187007568 20101123_snps_8507704_chr11_71901622 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 211151172 7109250 YRI.trio.3.2010_1036326_chr11_71579318 5.44e-02 2010.03.30 2010.03.30 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 225307377 7109250 pilot_1_YRI_7117060_chr11_71579318 5.44e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 242230281 7109250 pilot_1_CHB+JPT_4115358_chr11_71579318 5.44e-02 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 AFFY 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 66179836 7109250 SNP_A-2220751 5.44e-02 2006.10.27 2008.03.31 2003.07.11 2011.09.09 132 AFFY 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 76243438 7109250 AFFY_6_1M_SNP_A-2220751 5.44e-02 2007.08.30 2007.08.30 2003.07.11 2011.09.09 132 AFFY 2348 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7109250 Human1M-Duov3_B_rs7109250-127_B_F_1513982154 5.44e-02 2009.10.04 2009.10.04 2003.07.11 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 82385440 7109250 KHS241045 5.44e-02 2007.12.02 2007.12.02 2003.07.11 2011.09.09 132 PERLEGEN 2348 NM_000802.3:c.-9+695C>T;NT_167190.1:g.17207465C>T;NM_016724.1:c.-24C>T;NM_016724.2:c.-24C>T;NG_015863.1:g.6069C>T;NM_016724.2:c.-24C>T;NT_167190.1:g.17207465C>T;NM_016725.2:c.-9+867C>T;NT_167190.1:g.17207465C>T;NM_016730.1:c.-24C>T 23573627 7109250 afd4231325 5.44e-02 2004.08.20 2004.09.13 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-9+728T>A;NT_167190.1:g.17207498T>A;NM_016724.2:c.-9+18T>A;NG_015863.1:g.6102T>A;NM_016724.2:c.-9+18T>A;NT_167190.1:g.17207498T>A;NM_016725.2:c.-9+900T>A;NT_167190.1:g.17207498T>A 242230282 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2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 70909831 7125189 HumanHap550v3.0__rs7125189 5.44e-02 2007.04.20 2008.03.31 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 71507236 7125189 HumanHap650Yv3.0_rs7125189 5.44e-02 2007.04.23 2007.04.23 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 75699848 7125189 ILMN_Human_1M_rs7125189 5.44e-02 2007.08.29 2007.08.29 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 154406053 7125189 Human610_Quadv1_B_rs7125189-127_T_F_1502251339 5.44e-02 2009.06.20 2009.06.20 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 159581214 7125189 Human660W-Quad_v1_A_rs7125189-128_T_F_1502251339 5.44e-02 2009.07.07 2009.07.07 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-9+870A>C;NT_167190.1:g.17207640A>C;NM_016724.2:c.-9+160A>C;NG_015863.1:g.6244A>C;NM_016724.2:c.-9+160A>C;NT_167190.1:g.17207640A>C;NM_016725.2:c.-9+1042A>C;NT_167190.1:g.17207640A>C 174251409 7125189 Human1M-Duov3_B_rs7125189-127_T_F_1502251339 5.44e-02 2009.10.04 2009.10.04 2003.07.11 2011.09.09 132 KRIBB_YJKIM 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NM_000802.3:c.-8-1110A>G;NT_167190.1:g.17207895A>G;NM_016724.2:c.-9+415A>G;NG_015863.1:g.6499A>G;NM_016724.2:c.-9+415A>G;NT_167190.1:g.17207895A>G;NM_016725.2:c.-8-1110A>G;NT_167190.1:g.17207895A>G 132641359 77649540 ENSSNP10456841 2009.05.12 2009.05.14 2009.12.01 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-1103C>T;NT_167190.1:g.17207902C>T;NM_016724.2:c.-9+422C>T;NT_167190.1:g.17207902C>T;NM_016725.2:c.-8-1103C>T;NT_167190.1:g.17207902C>T 225307379 116588436 pilot_1_YRI_7117062_chr11_71579755 3.06e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-1103C>T;NT_167190.1:g.17207902C>T;NM_016724.2:c.-9+422C>T;NT_167190.1:g.17207902C>T;NM_016725.2:c.-8-1103C>T;NT_167190.1:g.17207902C>T 235607443 116588436 pilot_1_CEU_5212072_chr11_71579755 3.06e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-1103C>T;NT_167190.1:g.17207902C>T;NM_016724.2:c.-9+422C>T;NT_167190.1:g.17207902C>T;NM_016725.2:c.-8-1103C>T;NT_167190.1:g.17207902C>T 242230284 116588436 pilot_1_CHB+JPT_4115361_chr11_71579755 3.06e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 2348 462340476 184196139 20101123_snps_8507706_chr11_71902159 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 225307380 3763796 pilot_1_YRI_7117063_chr11_71579893 5.44e-02 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 242230286 3763796 pilot_1_CHB+JPT_4115363_chr11_71579893 5.44e-02 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 202865974 3763796 BUSHMAN-chr11-71579892 5.44e-02 2010.03.08 2010.03.08 2002.08.28 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 75120949 3763796 ILMN_Human_1M_rs3763796 5.44e-02 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 173629467 3763796 Human1M-Duov3_B_rs3763796-127_B_F_1514082003 5.44e-02 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 119461072 3763796 KHS1623319 5.44e-02 2009.02.04 2009.02.04 2002.08.28 2011.09.09 132 RIKENSNPRC 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 49847957 3763796 ssj0009174 5.44e-02 2005.12.06 2005.12.06 2002.08.28 2011.09.09 132 YUSUKE 2348 NM_000802.3:c.-8-965A>G;NT_167190.1:g.17208040A>G;NM_016724.2:c.-9+560A>G;NG_015863.1:g.6644A>G;NM_016724.2:c.-9+560A>G;NT_167190.1:g.17208040A>G;NM_016725.2:c.-8-965A>G;NT_167190.1:g.17208040A>G 4949834 3763796 IMS-JST117615 5.44e-02 2002.08.07 2006.10.25 2002.08.28 2011.09.09 132 1000GENOMES 2348 336814003 138991626 20100804_snps_8457544_chr11_71902284 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-873C>G;NT_167190.1:g.17208132C>G;NM_016724.2:c.-9+652C>G;NG_015863.1:g.6736C>G;NM_016724.2:c.-9+652C>G;NT_167190.1:g.17208132C>G;NM_016725.2:c.-8-873C>G;NT_167190.1:g.17208132C>G 225307381 76985467 pilot_1_YRI_7117064_chr11_71579985 9.14e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2348 462340477 187771309 20101123_snps_8507707_chr11_71902388 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340478 193048099 20101123_snps_8507708_chr11_71902397 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 2348 NM_000802.3:c.-8-800delT;NT_167190.1:g.17208205delT;NM_016724.2:c.-9+725delT;NG_015863.1:g.6809delT;NM_016724.2:c.-9+725delT;NT_167190.1:g.17208205delT;NM_016725.2:c.-8-800delT;NT_167190.1:g.17208205delT 40046613 5792581 hCV27163385 2005.07.16 2005.07.16 2003.04.21 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.-8-800delT;NT_167190.1:g.17208205delT;NM_016724.2:c.-9+725delT;NG_015863.1:g.6809delT;NM_016724.2:c.-9+725delT;NT_167190.1:g.17208205delT;NM_016725.2:c.-8-800delT;NT_167190.1:g.17208205delT 8051848 5792581 INDEL_GP31_187658 2003.04.16 2003.10.10 2003.04.21 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016724.2:c.-8-655C>A;NG_015863.1:g.6954C>A;NM_016724.2:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016725.2:c.-8-655C>A;NT_167190.1:g.17208350C>A 211151176 7113391 YRI.trio.3.2010_1036328_chr11_71580203 5.39e-02 2010.03.30 2010.03.30 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016724.2:c.-8-655C>A;NG_015863.1:g.6954C>A;NM_016724.2:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016725.2:c.-8-655C>A;NT_167190.1:g.17208350C>A 225307382 7113391 pilot_1_YRI_7117065_chr11_71580203 5.39e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016724.2:c.-8-655C>A;NG_015863.1:g.6954C>A;NM_016724.2:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016725.2:c.-8-655C>A;NT_167190.1:g.17208350C>A 242230287 7113391 pilot_1_CHB+JPT_4115364_chr11_71580203 5.39e-02 2010.05.01 2010.05.01 2003.07.11 2011.09.09 132 BCM_SSAHASNP 2348 NM_000802.3:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016724.2:c.-8-655C>A;NG_015863.1:g.6954C>A;NM_016724.2:c.-8-655C>A;NT_167190.1:g.17208350C>A;NM_016725.2:c.-8-655C>A;NT_167190.1:g.17208350C>A 10669528 7113391 chr11.NT_033927.5_2101584 5.39e-02 2003.06.30 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-654G>A;NT_167190.1:g.17208351G>A;NM_016724.2:c.-8-654G>A;NT_167190.1:g.17208351G>A;NM_016725.2:c.-8-654G>A;NT_167190.1:g.17208351G>A 225307383 114214336 pilot_1_YRI_7117066_chr11_71580204 2.47e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-654G>A;NT_167190.1:g.17208351G>A;NM_016724.2:c.-8-654G>A;NT_167190.1:g.17208351G>A;NM_016725.2:c.-8-654G>A;NT_167190.1:g.17208351G>A 242230288 114214336 pilot_1_CHB+JPT_4115365_chr11_71580204 2.47e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 2348 462340479 184538399 20101123_snps_8507709_chr11_71902561 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 336814004 34465999 20100804_snps_8457545_chr11_71902677 9.19e-02 2011.03.22 2011.03.22 2006.03.14 2011.09.09 132 ABI 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 39995469 34465999 hCV3246776 9.19e-02 2005.07.16 2005.07.16 2006.03.14 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 202865979 34465999 BUSHMAN-chr11-71580324 9.19e-02 2010.03.08 2010.03.08 2006.03.14 2011.09.09 132 ENSEMBL 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 137658792 34465999 ENSSNP614049 9.19e-02 2009.05.16 2009.10.15 2006.03.14 2011.09.09 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 97488327 34465999 1103649721186 9.19e-02 2008.03.29 2008.03.29 2006.03.14 2011.09.09 132 PJP 2348 NM_000802.3:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016724.2:c.-8-533A>G;NG_015863.1:g.7076A>G;NM_016724.2:c.-8-533A>G;NT_167190.1:g.17208472A>G;NM_016725.2:c.-8-533A>G;NT_167190.1:g.17208472A>G 291070941 34465999 SNP_577299_chr11_71580325 9.19e-02 2011.01.21 2011.01.21 2006.03.14 2011.09.09 132 1000GENOMES 2348 336814005 146648630 20100804_snps_8457546_chr11_71902704 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 462340480 189312523 20101123_snps_8507710_chr11_71902822 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340481 180820946 20101123_snps_8507711_chr11_71902832 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 TSC-CSHL 2348 NM_000802.3:c.-8-359T>A;NT_167190.1:g.17208646T>A;NM_016724.2:c.-8-359T>A;NG_015863.1:g.7250T>A;NM_016724.2:c.-8-359T>A;NT_167190.1:g.17208646T>A;NM_016725.2:c.-8-359T>A;NT_167190.1:g.17208646T>A 136418 762621 TSC0116349 2000.09.06 2003.10.10 2000.10.05 2011.07.08 132 TSC-CSHL 2348 NM_000802.3:c.-8-358T>A;NT_167190.1:g.17208647T>A;NM_016724.2:c.-8-358T>A;NG_015863.1:g.7251T>A;NM_016724.2:c.-8-358T>A;NT_167190.1:g.17208647T>A;NM_016725.2:c.-8-358T>A;NT_167190.1:g.17208647T>A 136419 762622 TSC0116350 2000.09.06 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 2348 462340482 184341962 20101123_snps_8507712_chr11_71902997 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 2348 NM_000802.3:c.-8-212G>A;NT_167190.1:g.17208793G>A;NM_016724.2:c.-8-212G>A;NG_015863.1:g.7397G>A;NM_016724.2:c.-8-212G>A;NT_167190.1:g.17208793G>A;NM_016725.2:c.-8-212G>A;NT_167190.1:g.17208793G>A 202865982 112331849 BUSHMAN-chr11-71580645 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.-8-167G>T;NT_167190.1:g.17208838G>T;NM_016724.2:c.-8-167G>T;NT_167190.1:g.17208838G>T;NM_016725.2:c.-8-167G>T;NT_167190.1:g.17208838G>T 225307385 115673739 pilot_1_YRI_7117068_chr11_71580691 4.57e-04 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 WI_SSAHASNP 2348 NM_000802.3:c.-8-123A>G;NT_167190.1:g.17208882A>G;NM_016724.2:c.-8-123A>G;NG_015863.1:g.7486A>G;NM_016724.2:c.-8-123A>G;NT_167190.1:g.17208882A>G;NM_016725.2:c.-8-123A>G;NT_167190.1:g.17208882A>G 12120279 7925351 chr11.NT_033927.5_2102116 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2348 462340483 188649911 20101123_snps_8507713_chr11_71903156 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 2348 NM_000802.3:c.-8-38G>A;NT_167190.1:g.17208967G>A;NM_016724.2:c.-8-38G>A;NG_015863.1:g.7571G>A;NM_016724.2:c.-8-38G>A;NT_167190.1:g.17208967G>A;NM_016725.2:c.-8-38G>A;NT_167190.1:g.17208967G>A 202865988 113814612 BUSHMAN-chr11-71580819 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 WI_SSAHASNP 2348 NM_000802.3:c.-8-28G>C;NT_167190.1:g.17208977G>C;NM_016724.2:c.-8-28G>C;NG_015863.1:g.7581G>C;NM_016724.2:c.-8-28G>C;NT_167190.1:g.17208977G>C;NM_016725.2:c.-8-28G>C;NT_167190.1:g.17208977G>C;NM_016729.1:c.-36G>C;NM_016729.2:c.-36G>C;NT_167190.1:g.17208977G>C 12146310 7938303 chr11.NT_033927.5_2102211 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 WI_SSAHASNP 2348 NM_000802.3:c.-8-7T>C;NT_167190.1:g.17208998T>C;NM_016724.2:c.-8-7T>C;NG_015863.1:g.7602T>C;NM_016724.2:c.-8-7T>C;NT_167190.1:g.17208998T>C;NM_016725.2:c.-8-7T>C;NT_167190.1:g.17208998T>C;NM_016729.1:c.-15T>C;NM_016729.2:c.-15T>C;NT_167190.1:g.17208998T>C 12126698 7928531 chr11.NT_033927.5_2102232 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.10C>T;NT_167190.1:g.17209022C>T;NP_000793.1:p.Arg4Trp;NM_016724.1:c.10C>T;NP_057936.1:p.Arg4Trp;NM_016724.2:c.10C>T;NG_015863.1:g.7626C>T;NP_057936.1:p.Arg4Trp;NM_016724.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057936.1:p.Arg4Trp;NM_016725.1:c.10C>T;NP_057937.1:p.Arg4Trp;NM_016725.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057937.1:p.Arg4Trp;NM_016729.1:c.10C>T;NP_057941.1:p.Arg4Trp;NM_016729.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057941.1:p.Arg4Trp;NM_016730.1:c.10C>T;NP_057942.1:p.Arg4Trp;NM_016731.2:c.10C>T;NP_057943.1:p.Arg4Trp 202865990 112062510 BUSHMAN-chr11-71580874 2010.03.08 2010.03.08 2010.07.04 2011.07.08 132 NHLBI-ESP 2348 NM_000802.3:c.10C>T;NT_167190.1:g.17209022C>T;NP_000793.1:p.Arg4Trp;NM_016724.1:c.10C>T;NP_057936.1:p.Arg4Trp;NM_016724.2:c.10C>T;NG_015863.1:g.7626C>T;NP_057936.1:p.Arg4Trp;NM_016724.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057936.1:p.Arg4Trp;NM_016725.1:c.10C>T;NP_057937.1:p.Arg4Trp;NM_016725.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057937.1:p.Arg4Trp;NM_016729.1:c.10C>T;NP_057941.1:p.Arg4Trp;NM_016729.2:c.10C>T;NT_167190.1:g.17209022C>T;NP_057941.1:p.Arg4Trp;NM_016730.1:c.10C>T;NP_057942.1:p.Arg4Trp;NM_016731.2:c.10C>T;NP_057943.1:p.Arg4Trp 342335314 112062510 ESP2500-chr11-71903227 2011.03.26 2011.03.26 2010.07.04 2011.07.08 132 NHLBI-ESP 2348 342335315 145380453 ESP2500-chr11-71903228 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 ILLUMINA 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 74878160 7928649 ILMN_Human_1M_rs7928649 2007.08.29 2007.08.29 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 154457042 7928649 Human610_Quadv1_B_rs7928649-127_B_F_1513912369 2009.06.20 2009.06.20 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 159631676 7928649 Human660W-Quad_v1_A_rs7928649-128_B_F_1513912369 2009.07.07 2009.07.07 2003.07.11 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 174623377 7928649 Human1M-Duov3_B_rs7928649-127_B_F_1513912369 2009.10.04 2009.10.04 2003.07.11 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 65839623 7928649 KHS15416 2006.10.17 2006.11.15 2003.07.11 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 119575556 7928649 KHS1737803 2009.02.05 2009.02.05 2003.07.11 2011.09.09 132 WI_SSAHASNP 2348 NM_000802.3:c.82T>C;NT_167190.1:g.17209094T>C;NP_000793.1:p.Trp28Arg;NM_016724.1:c.82T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NG_015863.1:g.7698T>C;NP_057936.1:p.Trp28Arg;NM_016724.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057936.1:p.Trp28Arg;NM_016725.1:c.82T>C;NP_057937.1:p.Trp28Arg;NM_016725.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057937.1:p.Trp28Arg;NM_016729.1:c.82T>C;NP_057941.1:p.Trp28Arg;NM_016729.2:c.82T>C;NT_167190.1:g.17209094T>C;NP_057941.1:p.Trp28Arg;NM_016730.1:c.82T>C;NP_057942.1:p.Trp28Arg;NM_016731.2:c.82T>C;NP_057943.1:p.Trp28Arg 12126937 7928649 chr11.NT_033927.5_2102328 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 NHLBI-ESP 2348 342335316 149216939 ESP2500-chr11-71903320 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 STEINFELD_LAB 2348 NM_016725.1:c.130_147dup 275679840 121918843 NM_016725.1:c.130_147dup pathogenic 2010.12.16 2010.12.16 2010.12.16 2011.07.08 132 NHLBI-ESP 2348 342335317 143413500 ESP2500-chr11-71903374 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2348 336814007 143835232 20100804_snps_8457548_chr11_71903382 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 SC_JCM 2348 NM_000802.3:c.168+27T>G;NT_167190.1:g.17209207T>G;NM_016724.2:c.168+27T>G;NG_015863.1:g.7811T>G;NM_016724.2:c.168+27T>G;NT_167190.1:g.17209207T>G;NM_016725.2:c.168+27T>G;NT_167190.1:g.17209207T>G;NM_016729.2:c.168+27T>G;NT_167190.1:g.17209207T>G 11294194 7479514 chr11.NT_033927.5_2102441 2003.07.03 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016724.2:c.168+37G>T;NG_015863.1:g.7821G>T;NM_016724.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016725.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016729.2:c.168+37G>T;NT_167190.1:g.17209217G>T 211151178 77771906 YRI.trio.3.2010_1036329_chr11_71581070 1.74e-02 2010.03.30 2010.03.30 2009.12.01 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016724.2:c.168+37G>T;NG_015863.1:g.7821G>T;NM_016724.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016725.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016729.2:c.168+37G>T;NT_167190.1:g.17209217G>T 225307386 77771906 pilot_1_YRI_7117069_chr11_71581070 1.74e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 COMPLETE_GENOMICS 2348 NM_000802.3:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016724.2:c.168+37G>T;NG_015863.1:g.7821G>T;NM_016724.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016725.2:c.168+37G>T;NT_167190.1:g.17209217G>T;NM_016729.2:c.168+37G>T;NT_167190.1:g.17209217G>T 170212127 77771906 NA19240_36_chr11_71581070 1.74e-02 2009.10.01 2009.10.01 2009.12.01 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016724.2:c.168+46G>C;NG_015863.1:g.7830G>C;NM_016724.2:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016725.2:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016729.2:c.168+46G>C;NT_167190.1:g.17209226G>C 225307387 77405781 pilot_1_YRI_7117070_chr11_71581079 2.15e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 ILLUMINA-UK 2348 NM_000802.3:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016724.2:c.168+46G>C;NG_015863.1:g.7830G>C;NM_016724.2:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016725.2:c.168+46G>C;NT_167190.1:g.17209226G>C;NM_016729.2:c.168+46G>C;NT_167190.1:g.17209226G>C 119888063 77405781 NA18507_000090798_NCBI36.1_chr11_71581079 2.15e-02 2009.02.05 2009.02.05 2009.12.01 2011.09.09 132 1000GENOMES 2348 462340484 181603256 20101123_snps_8507714_chr11_71903460 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 WI_SSAHASNP 2348 NM_000802.3:c.168+130G>A;NT_167190.1:g.17209310G>A;NM_016724.2:c.168+130G>A;NG_015863.1:g.7914G>A;NM_016724.2:c.168+130G>A;NT_167190.1:g.17209310G>A;NM_016725.2:c.168+130G>A;NT_167190.1:g.17209310G>A;NM_016729.2:c.168+130G>A;NT_167190.1:g.17209310G>A 12147046 7938669 chr11.NT_033927.5_2102544 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 DEVINE_LAB 2348 NM_000802.3:c.168+146_168+147ins2;NT_167190.1:g.17209326_17209327ins2;NM_016724.2:c.168+146_168+147ins2;NG_015863.1:g.7930_7931ins2;NM_016724.2:c.168+146_168+147ins2;NT_167190.1:g.17209326_17209327ins2;NM_016725.2:c.168+146_168+147ins2;NT_167190.1:g.17209326_17209327ins2;NM_016729.2:c.168+146_168+147ins2;NT_167190.1:g.17209326_17209327ins2 15055976 10628835 INDEL_GP34_WGS_144513 2003.11.13 2003.11.22 2003.12.05 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016724.2:c.168+147_168+148ins2;NG_015863.1:g.7931_7932ins2;NM_016724.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016725.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016729.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2 50350326 35968400 INDEL_GP35_WGS_627226 2006.01.24 2006.01.24 2006.03.15 2011.07.08 132 DEVINE_LAB 2348 NM_000802.3:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016724.2:c.168+147_168+148ins2;NG_015863.1:g.7931_7932ins2;NM_016724.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016725.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2;NM_016729.2:c.168+147_168+148ins2;NT_167190.1:g.17209327_17209328ins2 99805964 35968400 INDEL_GP36_2007a_311645_0 2008.05.06 2008.05.06 2006.03.15 2011.07.08 132 BUSHMAN 2348 NM_000802.3:c.168+163A>G;NT_167190.1:g.17209343A>G;NM_016724.2:c.168+163A>G;NG_015863.1:g.7947A>G;NM_016724.2:c.168+163A>G;NT_167190.1:g.17209343A>G;NM_016725.2:c.168+163A>G;NT_167190.1:g.17209343A>G;NM_016729.2:c.168+163A>G;NT_167190.1:g.17209343A>G 202865993 113646385 BUSHMAN-chr11-71581195 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 2348 462340485 185976189 20101123_snps_8507715_chr11_71903641 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 WI_SSAHASNP 2348 NM_000802.3:c.168+276C>A;NT_167190.1:g.17209456C>A;NM_016724.2:c.168+276C>A;NG_015863.1:g.8060C>A;NM_016724.2:c.168+276C>A;NT_167190.1:g.17209456C>A;NM_016725.2:c.168+276C>A;NT_167190.1:g.17209456C>A;NM_016729.2:c.168+276C>A;NT_167190.1:g.17209456C>A 12149010 7939650 chr11.NT_033927.5_2102690 2003.07.04 2003.10.10 2003.07.11 2011.09.09 132 1000GENOMES 2348 462340486 191084050 20101123_snps_8507716_chr11_71903709 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 336814008 145801512 20100804_snps_8457549_chr11_71903791 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ENSEMBL 2348 NM_000802.3:c.168+436T>C;NT_167190.1:g.17209616T>C;NM_016724.2:c.168+436T>C;NG_015863.1:g.8220T>C;NM_016724.2:c.168+436T>C;NT_167190.1:g.17209616T>C;NM_016725.2:c.168+436T>C;NT_167190.1:g.17209616T>C;NM_016729.2:c.168+436T>C;NT_167190.1:g.17209616T>C 132641363 79738697 ENSSNP10456842 2009.05.12 2009.05.14 2009.12.01 2011.09.09 132 BCMHGSC_JDW 2348 NM_000802.3:c.168+438C>T;NT_167190.1:g.17209618C>T;NM_016724.2:c.168+438C>T;NG_015863.1:g.8222C>T;NM_016724.2:c.168+438C>T;NT_167190.1:g.17209618C>T;NM_016725.2:c.168+438C>T;NT_167190.1:g.17209618C>T;NM_016729.2:c.168+438C>T;NT_167190.1:g.17209618C>T 88636772 61889241 JWB-2806015 2008.02.27 2008.02.27 2008.03.24 2011.07.08 132 1000GENOMES 2348 336814009 148960673 20100804_snps_8457550_chr11_71903877 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 GMI 2348 NM_000802.3:c.168+584C>G;NT_167190.1:g.17209764C>G;NM_016724.2:c.168+584C>G;NG_015863.1:g.8368C>G;NM_016724.2:c.168+584C>G;NT_167190.1:g.17209764C>G;NM_016725.2:c.168+584C>G;NT_167190.1:g.17209764C>G;NM_016729.2:c.168+584C>G;NT_167190.1:g.17209764C>G 156466985 79263225 GMI_SNP_497274218 2009.06.25 2009.06.25 2009.12.01 2011.07.08 132 GMI 2348 NM_000802.3:c.168+586T>G;NT_167190.1:g.17209766T>G;NM_016724.2:c.168+586T>G;NG_015863.1:g.8370T>G;NM_016724.2:c.168+586T>G;NT_167190.1:g.17209766T>G;NM_016725.2:c.168+586T>G;NT_167190.1:g.17209766T>G;NM_016729.2:c.168+586T>G;NT_167190.1:g.17209766T>G 156466990 76200849 GMI_SNP_498801608 2009.06.25 2009.06.25 2009.12.01 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.168+633A>G;NT_167190.1:g.17209813A>G;NM_016724.2:c.168+633A>G;NG_015863.1:g.8417A>G;NM_016724.2:c.168+633A>G;NT_167190.1:g.17209813A>G;NM_016725.2:c.168+633A>G;NT_167190.1:g.17209813A>G;NM_016729.2:c.168+633A>G;NT_167190.1:g.17209813A>G 235607444 80239514 pilot_1_CEU_5212073_chr11_71581666 1.37e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 2348 462340487 182244368 20101123_snps_8507717_chr11_71904329 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016724.2:c.168+996A>C;NG_015863.1:g.8780A>C;NM_016724.2:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016725.2:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016729.2:c.168+996A>C;NT_167190.1:g.17210176A>C 336814010 79958995 20100804_snps_8457551_chr11_71904381 1.60e-02 2011.03.22 2011.03.22 2009.12.01 2011.10.06 132 BGI 2348 NM_000802.3:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016724.2:c.168+996A>C;NG_015863.1:g.8780A>C;NM_016724.2:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016725.2:c.168+996A>C;NT_167190.1:g.17210176A>C;NM_016729.2:c.168+996A>C;NT_167190.1:g.17210176A>C 102975486 79958995 BGI_YHSNP0022890 1.60e-02 2008.06.05 2009.10.20 2009.12.01 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.168+1047G>A;NT_167190.1:g.17210227G>A;NM_016724.2:c.168+1047G>A;NT_167190.1:g.17210227G>A;NM_016725.2:c.168+1047G>A;NT_167190.1:g.17210227G>A;NM_016729.2:c.168+1047G>A;NT_167190.1:g.17210227G>A 242230290 117018032 pilot_1_CHB+JPT_4115367_chr11_71582080 1.65e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016724.2:c.168+1110T>C;NG_015863.1:g.8894T>C;NM_016724.2:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016725.2:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016729.2:c.168+1110T>C;NT_167190.1:g.17210290T>C 336814011 112907657 20100804_snps_8457552_chr11_71904495 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016724.2:c.168+1110T>C;NG_015863.1:g.8894T>C;NM_016724.2:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016725.2:c.168+1110T>C;NT_167190.1:g.17210290T>C;NM_016729.2:c.168+1110T>C;NT_167190.1:g.17210290T>C 202865997 112907657 BUSHMAN-chr11-71582142 3.20e-03 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 2348 462340488 187279544 20101123_snps_8507718_chr11_71904512 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340489 190967002 20101123_snps_8507719_chr11_71904627 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 327851206 150749163 YRI_chr11_71582296_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.168+1282_168+1283ins4;NT_167190.1:g.17210462_17210463ins4;NM_016724.2:c.168+1282_168+1283ins4;NG_015863.1:g.9066_9067ins4;NM_016724.2:c.168+1282_168+1283ins4;NT_167190.1:g.17210462_17210463ins4;NM_016725.2:c.168+1282_168+1283ins4;NT_167190.1:g.17210462_17210463ins4;NM_016729.2:c.168+1282_168+1283ins4;NT_167190.1:g.17210462_17210463ins4 95572552 71052856 1104685115967 2008.03.22 2008.12.03 2009.02.13 2011.07.08 132 1000GENOMES 2348 462340490 182795351 20101123_snps_8507720_chr11_71904759 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 327438732 144048614 CEU_chr11_71582463_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 2348 327851208 144048614 YRI_chr11_71582463_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 ABI 2348 39988607 34345837 hCV34432945 2005.07.16 2005.07.16 2006.03.14 2011.09.09 132 BUSHMAN 2348 193237886 34345837 BUSHMAN-chr11-71582463-71582467 2010.02.16 2010.02.16 2006.03.14 2011.09.09 132 HGSV 2348 80900533 57593168 Cor12878_DIV_20070510.chr11_71582489-71582494_1 2007.11.27 2007.11.27 2007.12.14 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 336814013 630074 20100804_snps_8457554_chr11_71904937 4.85e-01 2011.03.22 2011.03.22 2000.08.11 2011.09.09 132 BCM-HGSC-SUB 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 207896680 630074 BCM_CMT_1011-2256217 4.85e-01 2010.03.19 2010.03.19 2000.08.11 2011.09.09 132 BL 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 255272246 630074 SNP93981_11_71582585 4.85e-01 2010.08.20 2010.08.20 2000.08.11 2011.09.09 132 COMPLETE_GENOMICS 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 170212140 630074 NA19240_36_chr11_71582585 4.85e-01 2009.10.01 2009.10.01 2000.08.11 2011.09.09 132 GMI 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 156466999 630074 GMI_SNP_69997037 4.85e-01 2009.06.25 2009.06.25 2000.08.11 2011.09.09 132 SC_JCM 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 802627 630074 AP002513.1_64298 4.85e-01 2000.07.27 2003.10.10 2000.08.11 2011.09.09 132 SC_JCM 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 4246275 630074 AP002513.2_75593 4.85e-01 2001.10.15 2003.10.10 2000.08.11 2011.09.09 132 SC_SNP 2348 NM_000802.3:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016724.2:c.169-1378C>T;NG_015863.1:g.9336C>T;NM_016724.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016725.2:c.169-1378C>T;NT_167190.1:g.17210732C>T;NM_016729.2:c.169-1378C>T;NT_167190.1:g.17210732C>T 15505244 630074 NT_033927.6_2103966 4.85e-01 2003.11.14 2003.11.22 2000.08.11 2011.09.09 132 1000GENOMES 2348 462340491 185504516 20101123_snps_8507721_chr11_71904991 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340492 189927876 20101123_snps_8507722_chr11_71905028 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340493 182966547 20101123_snps_8507723_chr11_71905057 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340494 187258631 20101123_snps_8507724_chr11_71905563 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340495 193079689 20101123_snps_8507725_chr11_71905631 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340496 184022391 20101123_snps_8507726_chr11_71905633 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016724.2:c.169-674C>T;NG_015863.1:g.10040C>T;NM_016724.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016725.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016729.2:c.169-674C>T;NT_167190.1:g.17211436C>T 462340497 34116110 20101123_snps_8507727_chr11_71905641 9.60e-03 2011.07.20 2011.07.20 2006.03.13 2011.10.06 132 ABI 2348 NM_000802.3:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016724.2:c.169-674C>T;NG_015863.1:g.10040C>T;NM_016724.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016725.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016729.2:c.169-674C>T;NT_167190.1:g.17211436C>T 39914952 34116110 hCV3246774 9.60e-03 2005.07.16 2005.07.16 2006.03.13 2011.10.06 132 COMPLETE_GENOMICS 2348 NM_000802.3:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016724.2:c.169-674C>T;NG_015863.1:g.10040C>T;NM_016724.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016725.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016729.2:c.169-674C>T;NT_167190.1:g.17211436C>T 168552286 34116110 NA07022_36_chr11_71583289 9.60e-03 2009.10.01 2009.10.01 2006.03.13 2011.10.06 132 ENSEMBL 2348 NM_000802.3:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016724.2:c.169-674C>T;NG_015863.1:g.10040C>T;NM_016724.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016725.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016729.2:c.169-674C>T;NT_167190.1:g.17211436C>T 132027099 34116110 ENSSNP614050 9.60e-03 2009.05.11 2009.10.14 2006.03.13 2011.10.06 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016724.2:c.169-674C>T;NG_015863.1:g.10040C>T;NM_016724.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016725.2:c.169-674C>T;NT_167190.1:g.17211436C>T;NM_016729.2:c.169-674C>T;NT_167190.1:g.17211436C>T 97488328 34116110 1103649721203 9.60e-03 2008.03.29 2008.03.29 2006.03.13 2011.10.06 132 BUSHMAN 2348 NM_000802.3:c.169-625G>A;NT_167190.1:g.17211485G>A;NM_016724.2:c.169-625G>A;NG_015863.1:g.10089G>A;NM_016724.2:c.169-625G>A;NT_167190.1:g.17211485G>A;NM_016725.2:c.169-625G>A;NT_167190.1:g.17211485G>A;NM_016729.2:c.169-625G>A;NT_167190.1:g.17211485G>A 202866001 111669555 BUSHMAN-chr11-71583337 2010.03.08 2010.03.08 2010.07.04 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016724.2:c.169-609A>G;NG_015863.1:g.10105A>G;NM_016724.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016725.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016729.2:c.169-609A>G;NT_167190.1:g.17211501A>G 336814015 71477716 20100804_snps_8457556_chr11_71905706 1.38e-01 2011.03.22 2011.03.22 2009.02.13 2011.09.09 132 ENSEMBL 2348 NM_000802.3:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016724.2:c.169-609A>G;NG_015863.1:g.10105A>G;NM_016724.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016725.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016729.2:c.169-609A>G;NT_167190.1:g.17211501A>G 137658789 71477716 ENSSNP614051 1.38e-01 2009.05.16 2009.10.15 2009.02.13 2011.09.09 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016724.2:c.169-609A>G;NG_015863.1:g.10105A>G;NM_016724.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016725.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016729.2:c.169-609A>G;NT_167190.1:g.17211501A>G 97488329 71477716 1103649721202 1.38e-01 2008.03.29 2008.03.29 2009.02.13 2011.09.09 132 PJP 2348 NM_000802.3:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016724.2:c.169-609A>G;NG_015863.1:g.10105A>G;NM_016724.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016725.2:c.169-609A>G;NT_167190.1:g.17211501A>G;NM_016729.2:c.169-609A>G;NT_167190.1:g.17211501A>G 291070942 71477716 SNP_577300_chr11_71583354 1.38e-01 2011.01.21 2011.01.21 2009.02.13 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016724.2:c.169-395G>T;NG_015863.1:g.10319G>T;NM_016724.2:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016725.2:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016729.2:c.169-395G>T;NT_167190.1:g.17211715G>T 225307388 76101020 pilot_1_YRI_7117071_chr11_71583568 3.52e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016724.2:c.169-395G>T;NG_015863.1:g.10319G>T;NM_016724.2:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016725.2:c.169-395G>T;NT_167190.1:g.17211715G>T;NM_016729.2:c.169-395G>T;NT_167190.1:g.17211715G>T 242230291 76101020 pilot_1_CHB+JPT_4115368_chr11_71583568 3.52e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 2348 336814016 146014816 20100804_snps_8457557_chr11_71905989 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ABI 2348 NM_000802.3:c.169-273_169-272insA;NT_167190.1:g.17211837_17211838insA;NM_016724.2:c.169-273_169-272insA;NG_015863.1:g.10441_10442insA;NM_016724.2:c.169-273_169-272insA;NT_167190.1:g.17211837_17211838insA;NM_016725.2:c.169-273_169-272insA;NT_167190.1:g.17211837_17211838insA;NM_016729.2:c.169-273_169-272insA;NT_167190.1:g.17211837_17211838insA 40079414 34217205 hCV34432955 2005.07.16 2005.07.16 2006.03.13 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 110644137 35805771 CEU.trio.12.15.2008_2568739_chr11_71583777 1.37e-01 2008.12.17 2008.12.17 2006.03.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 225307389 35805771 pilot_1_YRI_7117072_chr11_71583777 1.37e-01 2010.04.22 2010.04.22 2006.03.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 235607445 35805771 pilot_1_CEU_5212074_chr11_71583777 1.37e-01 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 242230292 35805771 pilot_1_CHB+JPT_4115369_chr11_71583777 1.37e-01 2010.05.01 2010.05.01 2006.03.15 2011.09.09 132 ABI 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 38671119 35805771 hCV12042798 1.37e-01 2005.07.16 2005.07.16 2006.03.15 2011.09.09 132 BGI 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 106751547 35805771 BGI_rs35805771 1.37e-01 2008.09.18 2009.10.20 2006.03.15 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 202866005 35805771 BUSHMAN-chr11-71583776 1.37e-01 2010.03.08 2010.03.08 2006.03.15 2011.09.09 132 ENSEMBL 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 143638246 35805771 ENSSNP9816945 1.37e-01 2009.06.06 2009.10.17 2006.03.15 2011.09.09 132 HUMANGENOME_JCVI 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 97488330 35805771 1103649721201 1.37e-01 2008.03.29 2008.03.29 2006.03.15 2011.09.09 132 PJP 2348 NM_000802.3:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016724.2:c.169-186C>G;NG_015863.1:g.10528C>G;NM_016724.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016725.2:c.169-186C>G;NT_167190.1:g.17211924C>G;NM_016729.2:c.169-186C>G;NT_167190.1:g.17211924C>G 291070943 35805771 SNP_577301_chr11_71583777 1.37e-01 2011.01.21 2011.01.21 2006.03.15 2011.09.09 132 1000GENOMES 2348 462340498 192491516 20101123_snps_8507728_chr11_71906160 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NM_000802.3:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016724.2:c.169-94T>G;NG_015863.1:g.10620T>G;NM_016724.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016725.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016729.2:c.169-94T>G;NT_167190.1:g.17212016T>G 242230293 74702497 pilot_1_CHB+JPT_4115370_chr11_71583869 1.83e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 BGI 2348 NM_000802.3:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016724.2:c.169-94T>G;NG_015863.1:g.10620T>G;NM_016724.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016725.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016729.2:c.169-94T>G;NT_167190.1:g.17212016T>G 102975487 74702497 BGI_YHSNP0022891 1.83e-02 2008.06.05 2009.10.20 2009.12.01 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016724.2:c.169-94T>G;NG_015863.1:g.10620T>G;NM_016724.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016725.2:c.169-94T>G;NT_167190.1:g.17212016T>G;NM_016729.2:c.169-94T>G;NT_167190.1:g.17212016T>G 202866009 74702497 BUSHMAN-chr11-71583868 1.83e-02 2010.03.08 2010.03.08 2009.12.01 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 211151180 17162056 YRI.trio.3.2010_1036330_chr11_71583892 5.76e-02 2010.03.30 2010.03.30 2004.09.20 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 225307390 17162056 pilot_1_YRI_7117073_chr11_71583892 5.76e-02 2010.04.22 2010.04.22 2004.09.20 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 242230294 17162056 pilot_1_CHB+JPT_4115371_chr11_71583892 5.76e-02 2010.05.01 2010.05.01 2004.09.20 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 160432092 17162056 HumanOmni1-Quad_v1-0_B_rs17162056-128_B_F_1562931570 5.76e-02 2009.08.06 2009.10.02 2004.09.20 2011.09.09 132 ILLUMINA 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 244282928 17162056 CVDSNP55v1_A_rs17162056 5.76e-02 2010.06.10 2010.06.10 2004.09.20 2011.09.09 132 PERLEGEN 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 23573708 17162056 afd1704767 5.76e-02 2004.08.20 2004.09.13 2004.09.20 2011.09.09 132 RIKENSNPRC 2348 NM_000802.3:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016724.2:c.169-71T>C;NG_015863.1:g.10643T>C;NM_016724.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016725.2:c.169-71T>C;NT_167190.1:g.17212039T>C;NM_016729.2:c.169-71T>C;NT_167190.1:g.17212039T>C 49847958 17162056 ssj0009175 5.76e-02 2005.12.06 2005.12.06 2004.09.20 2011.09.09 132 1000GENOMES 2348 336814017 138575051 20100804_snps_8457558_chr11_71906319 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 2348 342335318 148345688 ESP2500-chr11-71906361 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.292C>T;NT_167190.1:g.17212233C>T;NP_000793.1:p.Arg98Trp;NM_016724.1:c.292C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NG_015863.1:g.10837C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057936.1:p.Arg98Trp;NM_016725.1:c.292C>T;NP_057937.1:p.Arg98Trp;NM_016725.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057937.1:p.Arg98Trp;NM_016729.1:c.292C>T;NP_057941.1:p.Arg98Trp;NM_016729.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057941.1:p.Arg98Trp;NM_016730.1:c.292C>T;NP_057942.1:p.Arg98Trp;NM_016731.2:c.292C>T;NP_057943.1:p.Arg98Trp 462340499 76191655 20101123_snps_8507729_chr11_71906438 9.14e-04 2011.07.20 2011.07.20 2009.12.01 2011.10.06 132 NHLBI-ESP 2348 NM_000802.3:c.292C>T;NT_167190.1:g.17212233C>T;NP_000793.1:p.Arg98Trp;NM_016724.1:c.292C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NG_015863.1:g.10837C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057936.1:p.Arg98Trp;NM_016725.1:c.292C>T;NP_057937.1:p.Arg98Trp;NM_016725.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057937.1:p.Arg98Trp;NM_016729.1:c.292C>T;NP_057941.1:p.Arg98Trp;NM_016729.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057941.1:p.Arg98Trp;NM_016730.1:c.292C>T;NP_057942.1:p.Arg98Trp;NM_016731.2:c.292C>T;NP_057943.1:p.Arg98Trp 342335319 76191655 ESP2500-chr11-71906438 9.14e-04 2011.03.26 2011.03.26 2009.12.01 2011.10.06 132 SEATTLESEQ 2348 NM_000802.3:c.292C>T;NT_167190.1:g.17212233C>T;NP_000793.1:p.Arg98Trp;NM_016724.1:c.292C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NG_015863.1:g.10837C>T;NP_057936.1:p.Arg98Trp;NM_016724.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057936.1:p.Arg98Trp;NM_016725.1:c.292C>T;NP_057937.1:p.Arg98Trp;NM_016725.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057937.1:p.Arg98Trp;NM_016729.1:c.292C>T;NP_057941.1:p.Arg98Trp;NM_016729.2:c.292C>T;NT_167190.1:g.17212233C>T;NP_057941.1:p.Arg98Trp;NM_016730.1:c.292C>T;NP_057942.1:p.Arg98Trp;NM_016731.2:c.292C>T;NP_057943.1:p.Arg98Trp 159724289 76191655 FOLR1-71584086 9.14e-04 2009.07.10 2009.07.10 2009.12.01 2011.10.06 132 1000GENOMES 2348 462340500 145674759 20101123_snps_8507730_chr11_71906467 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 2348 342335320 145674759 ESP2500-chr11-71906467 2011.03.26 2011.03.26 2011.05.09 2011.10.06 132 OMIM-CURATED-RECORDS 2348 NP_057936.1:p.GLN118TER 275518003 121918405 2087 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.09.09 132 STEINFELD_LAB 2348 NM_016725.1:c.352C>T 275679838 121918405 NM_016725.1:c.352C>T Germline probable-pathogenic 2010.12.16 2010.12.16 2010.12.03 2011.09.09 132 1000GENOMES 2348 336814018 149273197 20100804_snps_8457559_chr11_71906524 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 2348 NM_000802.3:c.357+28A>T;NT_167190.1:g.17212326A>T;NM_016724.2:c.357+28A>T;NG_015863.1:g.10930A>T;NM_016724.2:c.357+28A>T;NT_167190.1:g.17212326A>T;NM_016725.2:c.357+28A>T;NT_167190.1:g.17212326A>T;NM_016729.2:c.357+28A>T;NT_167190.1:g.17212326A>T 202866014 112834048 BUSHMAN-chr11-71584178 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 NHLBI-ESP 2348 342335321 138331534 ESP2500-chr11-71906677 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 2348 342335322 142717163 ESP2500-chr11-71906683 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 CORNELL 2348 NM_000802.3:c.393C>T;NT_167190.1:g.17212486C>T;NM_016724.1:c.393C>T;NM_016724.2:c.393C>T;NG_015863.1:g.11090C>T;NM_016724.2:c.393C>T;NT_167190.1:g.17212486C>T;NM_016725.1:c.393C>T;NM_016725.2:c.393C>T;NT_167190.1:g.17212486C>T;NM_016729.1:c.393C>T;NM_016729.2:c.393C>T;NT_167190.1:g.17212486C>T;NM_016730.1:c.393C>T;NM_016731.2:c.393C>T 86243520 61735636 hCV25599563 2008.01.21 2010.09.29 2008.03.23 2011.09.09 132 1000GENOMES 2348 NM_000802.3:c.396G>A;NT_167190.1:g.17212489G>A;NM_016724.1:c.396G>A;NM_016724.2:c.396G>A;NG_015863.1:g.11093G>A;NM_016724.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016725.1:c.396G>A;NM_016725.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016729.1:c.396G>A;NM_016729.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016730.1:c.396G>A;NM_016731.2:c.396G>A 336814019 35179028 20100804_snps_8457560_chr11_71906694 1.83e-03 2011.03.22 2011.03.22 2006.03.14 2011.07.08 132 NHLBI-ESP 2348 NM_000802.3:c.396G>A;NT_167190.1:g.17212489G>A;NM_016724.1:c.396G>A;NM_016724.2:c.396G>A;NG_015863.1:g.11093G>A;NM_016724.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016725.1:c.396G>A;NM_016725.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016729.1:c.396G>A;NM_016729.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016730.1:c.396G>A;NM_016731.2:c.396G>A 342335323 35179028 ESP2500-chr11-71906694 1.83e-03 2011.03.26 2011.03.26 2006.03.14 2011.07.08 132 RIKENSNPRC 2348 NM_000802.3:c.396G>A;NT_167190.1:g.17212489G>A;NM_016724.1:c.396G>A;NM_016724.2:c.396G>A;NG_015863.1:g.11093G>A;NM_016724.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016725.1:c.396G>A;NM_016725.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016729.1:c.396G>A;NM_016729.2:c.396G>A;NT_167190.1:g.17212489G>A;NM_016730.1:c.396G>A;NM_016731.2:c.396G>A 49847959 35179028 ssj0009176 1.83e-03 2005.12.06 2005.12.06 2006.03.14 2011.07.08 132 1000GENOMES 2348 462340501 191657981 20101123_snps_8507731_chr11_71906745 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 2348 342335324 138747753 ESP2500-chr11-71906763 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 2348 342335325 149320230 ESP2500-chr11-71906764 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 HGBASE 2348 NM_000802.3:c.480G>C;NT_167190.1:g.17212573G>C;NP_000793.1:p.Trp160Cys;NM_016724.1:c.480G>C;NP_057936.1:p.Trp160Cys;NM_016724.2:c.480G>C;NG_015863.1:g.11177G>C;NP_057936.1:p.Trp160Cys;NM_016724.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057936.1:p.Trp160Cys;NM_016725.1:c.480G>C;NP_057937.1:p.Trp160Cys;NM_016725.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057937.1:p.Trp160Cys;NM_016729.1:c.480G>C;NP_057941.1:p.Trp160Cys;NM_016729.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057941.1:p.Trp160Cys;NM_016730.1:c.480G>C;NP_057942.1:p.Trp160Cys;NM_016731.2:c.480G>C;NP_057943.1:p.Trp160Cys 2422360 1801932 SNP000009286 2000.11.07 2003.10.10 2000.11.14 2011.09.09 132 KRIBB_YJKIM 2348 NM_000802.3:c.480G>C;NT_167190.1:g.17212573G>C;NP_000793.1:p.Trp160Cys;NM_016724.1:c.480G>C;NP_057936.1:p.Trp160Cys;NM_016724.2:c.480G>C;NG_015863.1:g.11177G>C;NP_057936.1:p.Trp160Cys;NM_016724.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057936.1:p.Trp160Cys;NM_016725.1:c.480G>C;NP_057937.1:p.Trp160Cys;NM_016725.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057937.1:p.Trp160Cys;NM_016729.1:c.480G>C;NP_057941.1:p.Trp160Cys;NM_016729.2:c.480G>C;NT_167190.1:g.17212573G>C;NP_057941.1:p.Trp160Cys;NM_016730.1:c.480G>C;NP_057942.1:p.Trp160Cys;NM_016731.2:c.480G>C;NP_057943.1:p.Trp160Cys 65837367 1801932 KHS13159 2006.10.17 2006.11.15 2000.11.14 2011.09.09 132 1000GENOMES 2348 462340502 144637717 20101123_snps_8507732_chr11_71906793 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 2348 342335326 144637717 ESP2500-chr11-71906793 2011.03.26 2011.03.26 2011.05.09 2011.10.06 132 1000GENOMES 2348 462340503 190090266 20101123_snps_8507733_chr11_71906803 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340504 181863843 20101123_snps_8507734_chr11_71906909 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 462340505 187383043 20101123_snps_8507735_chr11_71906910 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 336814020 148427949 20100804_snps_8457561_chr11_71906915 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 2348 342335327 139633601 ESP2500-chr11-71906955 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 2348 NP_057936.1:p.CYS175TER 275518004 121918406 2088 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.09.09 132 STEINFELD_LAB 2348 NM_016725.1:c.525C>A 275679839 121918406 NM_016725.1:c.525C>A Germline probable-pathogenic 2010.12.16 2010.12.16 2010.12.03 2011.09.09 132 NHLBI-ESP 2348 342335328 145250531 ESP2500-chr11-71907070 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 2348 342335329 147155003 ESP2500-chr11-71907166 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 HGBASE 2348 NM_000802.3:c.*22C>A;NT_167190.1:g.17213038C>A;NM_016724.1:c.*22C>A;NM_016724.2:c.*22C>A;NG_015863.1:g.11642C>A;NM_016724.2:c.*22C>A;NT_167190.1:g.17213038C>A;NM_016725.1:c.*22C>A;NM_016725.2:c.*22C>A;NT_167190.1:g.17213038C>A;NM_016729.1:c.*22C>A;NM_016729.2:c.*22C>A;NT_167190.1:g.17213038C>A;NM_016730.1:c.*22C>A;NM_016731.2:c.*22C>A 2424221 1803570 SNP000011593 2000.11.07 2003.10.10 2000.11.14 2011.07.08 132 1000GENOMES 2348 NM_000802.3:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016724.1:c.*80G>T;NM_016724.2:c.*80G>T;NG_015863.1:g.11700G>T;NM_016724.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016725.1:c.*80G>T;NM_016725.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016729.1:c.*80G>T;NM_016729.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016730.1:c.*80G>T;NM_016731.2:c.*80G>T 225307391 74674719 pilot_1_YRI_7117074_chr11_71584949 2.29e-03 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 ILLUMINA-UK 2348 NM_000802.3:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016724.1:c.*80G>T;NM_016724.2:c.*80G>T;NG_015863.1:g.11700G>T;NM_016724.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016725.1:c.*80G>T;NM_016725.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016729.1:c.*80G>T;NM_016729.2:c.*80G>T;NT_167190.1:g.17213096G>T;NM_016730.1:c.*80G>T;NM_016731.2:c.*80G>T 119888069 74674719 NA18507_000090799_NCBI36.1_chr11_71584949 2.29e-03 2009.02.05 2009.02.05 2009.12.01 2011.09.09 132 1000GENOMES 2348 462340506 190467709 20101123_snps_8507736_chr11_71907349 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 110644144 68068983 CEU.trio.12.15.2008_2568740_chr11_71585130 1.38e-01 2008.12.17 2008.12.17 2009.02.06 2011.09.09 132 1000GENOMES 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 225307392 68068983 pilot_1_YRI_7117075_chr11_71585130 1.38e-01 2010.04.22 2010.04.22 2009.02.06 2011.09.09 132 1000GENOMES 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 235607446 68068983 pilot_1_CEU_5212075_chr11_71585130 1.38e-01 2010.05.01 2010.05.01 2009.02.06 2011.09.09 132 1000GENOMES 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 242230296 68068983 pilot_1_CHB+JPT_4115373_chr11_71585130 1.38e-01 2010.05.01 2010.05.01 2009.02.06 2011.09.09 132 BGI 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 106751548 68068983 BGI_YHSNP0022892 1.38e-01 2008.09.18 2009.10.20 2009.02.06 2011.09.09 132 BUSHMAN 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 202866018 68068983 BUSHMAN-chr11-71585129 1.38e-01 2010.03.08 2010.03.08 2009.02.06 2011.09.09 132 ENSEMBL 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 143748952 68068983 ENSSNP5359339 1.38e-01 2009.06.06 2009.10.17 2009.02.06 2011.09.09 132 HUMANGENOME_JCVI 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 97488331 68068983 1103649721200 1.38e-01 2008.03.29 2008.03.29 2009.02.06 2011.09.09 132 PJP 2348 NG_015863.1:g.11881T>C;NT_167190.1:g.17213277T>C 291070944 68068983 SNP_577302_chr11_71585130 1.38e-01 2011.01.21 2011.01.21 2009.02.06 2011.09.09 132 1000GENOMES 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 110644152 34030891 CEU.trio.12.15.2008_2568741_chr11_71585146 9.32e-02 2008.12.17 2008.12.17 2006.03.13 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 225307393 34030891 pilot_1_YRI_7117076_chr11_71585146 9.32e-02 2010.04.22 2010.04.22 2006.03.13 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 235607447 34030891 pilot_1_CEU_5212076_chr11_71585146 9.32e-02 2010.05.01 2010.05.01 2006.03.13 2011.10.06 132 1000GENOMES 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 242230297 34030891 pilot_1_CHB+JPT_4115374_chr11_71585146 9.32e-02 2010.05.01 2010.05.01 2006.03.13 2011.10.06 132 ABI 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 40052194 34030891 hCV3246770 9.32e-02 2005.07.16 2005.07.16 2006.03.13 2011.10.06 132 BGI 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 102975488 34030891 BGI_rs34030891 9.32e-02 2008.06.05 2009.10.20 2006.03.13 2011.10.06 132 BUSHMAN 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 202866019 34030891 BUSHMAN-chr11-71585145 9.32e-02 2010.03.08 2010.03.08 2006.03.13 2011.10.06 132 ENSEMBL 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 143047991 34030891 ENSSNP3943523 9.32e-02 2009.06.05 2009.10.19 2006.03.13 2011.10.06 132 HUMANGENOME_JCVI 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 97488332 34030891 1103649721199 9.32e-02 2008.03.29 2008.03.29 2006.03.13 2011.10.06 132 PJP 2348 NG_015863.1:g.11897C>T;NT_167190.1:g.17213293C>T 291070945 34030891 SNP_577303_chr11_71585146 9.32e-02 2011.01.21 2011.01.21 2006.03.13 2011.10.06 132 1000GENOMES 2348 336814021 142393746 20100804_snps_8457562_chr11_71907528 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 336814022 145935001 20100804_snps_8457563_chr11_71907593 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 2348 NT_167190.1:g.17213468T>C 225307394 115849622 pilot_1_YRI_7117077_chr11_71585321 7.77e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 BCMHGSC_JDW 2348 NG_015863.1:g.12155T>A;NT_167190.1:g.17213551T>A 88636775 61889242 JWB-2806016 2008.02.27 2008.02.27 2008.03.24 2011.07.08 132 ENSEMBL 2348 NG_015863.1:g.12172T>G;NT_167190.1:g.17213568T>G 132641367 76674198 ENSSNP10456843 2009.05.12 2009.05.14 2009.12.01 2011.07.08 132 1000GENOMES 2348 462340507 180848329 20101123_snps_8507737_chr11_71907807 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 # Report date: 2012.1.24, Gene: FOLR1 (2348), ss count: 351, rs count: 165.