# 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 SC 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 139451 131758 Em:U62317_61800 4.08e-01 2000.06.08 2004.04.07 2000.06.24 2012.11.28 137 SC_JCM 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 4042930 131758 U62317.2_61801 4.08e-01 2001.09.26 2003.10.10 2000.06.24 2012.11.28 137 YUSUKE 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 4997052 131758 IMS-JST170443 4.08e-01 2002.08.12 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 13377118 131758 NT_011526.5_211945 4.08e-01 2003.10.22 2003.10.31 2000.06.24 2012.11.28 137 CSHL-HAPMAP 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 16923934 131758 CSHL-HuAA-200402.chr22.NT_011526.5_211945 4.08e-01 2004.02.18 2004.03.04 2000.06.24 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 21852070 131758 WGSA-200403-chr22.chr22.NT_011526.5_211945 4.08e-01 2004.03.20 2004.03.20 2000.06.24 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 28459994 131758 QH04559 4.08e-01 2004.07.07 2005.05.13 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 44293514 131758 hCV2531730 4.08e-01 2005.07.18 2006.11.03 2000.06.24 2012.11.28 137 PERLEGEN 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 69269067 131758 PGP04377831 4.08e-01 2007.01.30 2007.08.14 2000.06.24 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 76888367 131758 NT_011526.6_237145 4.08e-01 2007.09.20 2007.09.20 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 81243626 131758 Cor18507_SNV_20070510.chr22_49307226 4.08e-01 2007.11.28 2007.11.28 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 91957362 131758 JWB-1541239 4.08e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 BGI 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 106234324 131758 BGI_rs131758 4.08e-01 2008.09.14 2009.06.18 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 112734590 131758 CEU.trio.12.15.2008_3830359_chr22_49363948 4.08e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 114374299 131758 NA19240_2008_12_16_3464474_chr22_49363948 4.08e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 138373275 131758 ENSSNP11945541 4.08e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 157312793 131758 GMI_SNP_24845261 4.08e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 168189284 131758 NA07022_36_chr22_49363948 4.08e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 169627361 131758 NA19240_36_chr22_49363948 4.08e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 172096756 131758 NA20431_36_chr22_49363948 4.08e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 204133506 131758 BUSHMAN-chr22-49363947 4.08e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 228744447 131758 pilot_1_YRI_10554130_chr22_49363948 4.08e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 238114349 131758 pilot_1_CEU_7718978_chr22_49363948 4.08e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 244222425 131758 pilot_1_CHB+JPT_6107502_chr22_49363948 4.08e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 244278367 131758 CVDSNP55v1_A_rs131758 4.08e-01 2010.06.10 2010.06.10 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 283678561 131758 GMI_AK_SNP_7998984 4.08e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 292731089 131758 SNP_2237447_chr22_49363948 4.08e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 482897172 131758 HumanOmni2.5-4v1_D_kgp22831771-0_T_R_1860414682 4.08e-01 2012.02.02 2012.02.02 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017082T>A;NG_029213.1:g.9347A>T;NM_005198.4:c.*528A>T 484336343 131758 HumanOmni2.5-4v1_B_SNP22-49363948-0_T_R_1627720311 4.08e-01 2012.02.03 2012.02.03 2000.06.24 2012.11.28 137 YUSUKE 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 4997053 3810647 IMS-JST170444 5.77e-02 2002.08.12 2003.11.22 2002.08.28 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 28459992 3810647 QH04563 5.77e-02 2004.07.07 2005.05.13 2002.08.28 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 28459993 3810647 QH04558 5.77e-02 2004.07.07 2005.05.13 2002.08.28 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 91957363 3810647 JWB-1541240 5.77e-02 2008.03.02 2008.03.02 2002.08.28 2012.11.28 137 BGI 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 106234325 3810647 BGI_rs3810647 5.77e-02 2008.09.14 2009.06.18 2002.08.28 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 138373276 3810647 ENSSNP11945542 5.77e-02 2009.05.17 2009.05.17 2002.08.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 238114350 3810647 pilot_1_CEU_7718979_chr22_49364033 5.77e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017167G>A;NG_029213.1:g.9262C>T;NM_005198.4:c.*443C>T 244222426 3810647 pilot_1_CHB+JPT_6107503_chr22_49364033 5.77e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017174C>T;NG_029213.1:g.9255G>A;NM_005198.4:c.*436G>A 466244358 187258702 20101123_snps_12411588_chr22_51017174 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51017206_51017207insCTC;NG_029213.1:g.9222_9223insGAG;NM_005198.4:c.*403_*404insGAG 499902299 200591144 20110316_indels_chr22_51017206_51017207 2.04e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 15054278 10627369 INDEL_GP34_WGS_142377 2.09e-01 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 DEVINE_LAB 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 15364474 10627369 INDEL_GP34_WCS_142377 2.09e-01 2003.11.14 2003.11.22 2003.12.05 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 193653229 10627369 BUSHMAN-chr22-49364075-49364075 2.09e-01 2010.02.17 2010.02.17 2003.12.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 328117349 10627369 CEU_chr22_49364075_indel 2.09e-01 2011.03.13 2011.04.03 2003.12.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 328333468 10627369 YRI_chr22_49364075_indel 2.09e-01 2011.03.13 2011.04.04 2003.12.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51017209_51017210insCTT;NG_029213.1:g.9219_9220insAAG;NM_005198.4:c.*400_*401insAAG 478828901 10627369 GMI_AK_INDEL_1131744 2.09e-01 2011.12.30 2011.12.30 2003.12.05 2012.11.28 137 1000GENOMES 1120 ARRAY(0x19694c10) 499902303 10627369 20110316_indels_chr22_51017209_51017210 2.09e-01 2012.03.20 2012.03.20 2003.12.05 2012.11.28 137 DEVINE_LAB 1120 NC_000022.10:g.51017210_51017211insCTT;NC_000022.10:g.51017210_51017211insTTC;NG_029213.1:g.9218_9219insAAG;NG_029213.1:g.9218_9219insGAA;NM_005198.4:c.*399_*400insAAG;NM_005198.4:c.*399_*400insGAA 50009725 33918791 INDEL_GP35_WCS_19286 2006.01.24 2006.01.24 2006.03.13 2012.05.16 137 DEVINE_LAB 1120 NC_000022.10:g.51017210_51017211insCTT;NC_000022.10:g.51017210_51017211insTTC;NG_029213.1:g.9218_9219insAAG;NG_029213.1:g.9218_9219insGAA;NM_005198.4:c.*399_*400insAAG;NM_005198.4:c.*399_*400insGAA 50146017 33918791 INDEL_GP35_WGS_363343 2006.01.24 2006.01.24 2006.03.13 2012.05.16 137 DEVINE_LAB 1120 NC_000022.10:g.51017210_51017211insCTT;NC_000022.10:g.51017210_51017211insTTC;NG_029213.1:g.9218_9219insAAG;NG_029213.1:g.9218_9219insGAA;NM_005198.4:c.*399_*400insAAG;NM_005198.4:c.*399_*400insGAA 99383597 33918791 INDEL_GP36_2007a_290366_0 2008.05.05 2008.05.05 2006.03.13 2012.05.16 137 DEVINE_LAB 1120 NC_000022.10:g.51017210_51017211insCTT;NC_000022.10:g.51017210_51017211insTTC;NG_029213.1:g.9218_9219insAAG;NG_029213.1:g.9218_9219insGAA;NM_005198.4:c.*399_*400insAAG;NM_005198.4:c.*399_*400insGAA 100826996 33918791 INDEL_GP36_2008a_290366_1 2008.05.17 2008.05.17 2006.03.13 2012.05.16 137 BUSHMAN 1120 NC_000022.10:g.51017210_51017211insCTT;NC_000022.10:g.51017210_51017211insTTC;NG_029213.1:g.9218_9219insAAG;NG_029213.1:g.9218_9219insGAA;NM_005198.4:c.*399_*400insAAG;NM_005198.4:c.*399_*400insGAA 193653231 33918791 BUSHMAN-chr22-49364076-49364076 2010.02.17 2010.02.17 2006.03.13 2012.05.16 137 YUSUKE 1120 NC_000022.10:g.51017211_51017212insTCT;NG_029213.1:g.9217_9218insAGA;NM_005198.4:c.*398_*399insAGA 5027490 3840965 IMS-JST170445 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 GMI 1120 NC_000022.10:g.51017211_51017212insTCT;NG_029213.1:g.9217_9218insAGA;NM_005198.4:c.*398_*399insAGA 478828902 3840965 GMI_AK_INDEL_1131745 2011.12.30 2011.12.30 2002.08.28 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017227G>A;NG_029213.1:g.9202C>T;NM_005198.4:c.*383C>T 13377119 9616870 NT_011526.5_212090 2003.10.22 2003.10.31 2003.12.05 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51017231T>G;NG_029213.1:g.9198A>C;NM_005198.4:c.*379A>C 341247001 142906371 20100804_snps_12890542_chr22_51017231 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51017292G>A;NG_029213.1:g.9137C>T;NM_005198.4:c.*318C>T 212138855 116281763 YRI.trio.3.2010_1527969_chr22_49364158 1.69e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51017292G>A;NG_029213.1:g.9137C>T;NM_005198.4:c.*318C>T 228744450 116281763 pilot_1_YRI_10554133_chr22_49364158 1.69e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 12523605 8137478 chr22.NT_011526.5_212159 1.79e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 12576671 8137478 chr22.NT_011526.5_212159 1.79e-01 2003.07.14 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 15449830 8137478 NT_011526.5_212159 1.79e-01 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 28459991 8137478 QH04562 1.79e-01 2004.07.07 2005.05.13 2003.07.11 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 69376140 8137478 NT_011526.6_237359 1.79e-01 2007.04.12 2007.04.12 2003.07.11 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 112734596 8137478 CEU.trio.12.15.2008_3830360_chr22_49364162 1.79e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 204133508 8137478 BUSHMAN-chr22-49364161 1.79e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 228744451 8137478 pilot_1_YRI_10554134_chr22_49364162 1.79e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 238114351 8137478 pilot_1_CEU_7718980_chr22_49364162 1.79e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 244222427 8137478 pilot_1_CHB+JPT_6107504_chr22_49364162 1.79e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 1120 NC_000022.10:g.51017296G>C;NG_029213.1:g.9133C>G;NM_005198.4:c.*314C>G 283678562 8137478 GMI_AK_SNP_7998985 1.79e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017345G>C;NG_029213.1:g.9084C>G;NM_005198.4:c.*265C>G 466244359 192028596 20101123_snps_12411589_chr22_51017345 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 8025385 5770917 NT_011526.4_154353 1.15e-01 2003.04.15 2008.03.31 2003.04.21 2012.11.28 137 WI_SSAHASNP 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 12521689 5770917 chr22.NT_011526.5_212216 1.15e-01 2003.07.04 2003.10.10 2003.04.21 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 12576662 5770917 chr22.NT_011526.5_212216 1.15e-01 2003.07.14 2003.10.10 2003.04.21 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 15449831 5770917 NT_011526.5_212216 1.15e-01 2003.11.14 2003.11.22 2003.04.21 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 28459990 5770917 QH04561 1.15e-01 2004.07.07 2005.05.13 2003.04.21 2012.11.28 137 AFFY 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 66141341 5770917 SNP_A-2104285 1.15e-01 2006.10.27 2008.03.31 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 75245048 5770917 ILMN_Human_1M_rs5770917 1.15e-01 2007.08.29 2007.08.29 2003.04.21 2012.11.28 137 AFFY 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 76159533 5770917 AFFY_6_1M_SNP_A-2104285 1.15e-01 2007.08.30 2007.08.30 2003.04.21 2012.11.28 137 KRIBB_YJKIM 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 82186844 5770917 KHS203103 1.15e-01 2007.12.02 2007.12.02 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 112734600 5770917 CEU.trio.12.15.2008_3830361_chr22_49364219 1.15e-01 2008.12.18 2008.12.18 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 160747062 5770917 HumanOmni1-Quad_v1-0_B_rs5770917-128_B_F_1514219611 1.15e-01 2009.08.07 2009.10.04 2003.04.21 2012.11.28 137 AFFY 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 172671919 5770917 GenomeWideSNP_5_SNP_A-2104285 1.15e-01 2009.10.02 2009.10.02 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 173931341 5770917 Human1M-Duov3_B_rs5770917-128_B_F_1514219611 1.15e-01 2009.10.04 2009.10.04 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 204133510 5770917 BUSHMAN-chr22-49364218 1.15e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 238114352 5770917 pilot_1_CEU_7718981_chr22_49364219 1.15e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 244222428 5770917 pilot_1_CHB+JPT_6107505_chr22_49364219 1.15e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 244303618 5770917 CVDSNP55v1_A_rs5770917 1.15e-01 2010.06.10 2010.06.10 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 283678563 5770917 GMI_AK_SNP_7998986 1.15e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 481160455 5770917 HumanOmni2.5-4v1_B_rs5770917-128_B_F_1615265995 1.15e-01 2012.01.31 2012.01.31 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 481182857 5770917 HumanOmniExpress-12v1_C_rs5770917-131_B_F_1857753437 1.15e-01 2012.01.31 2012.01.31 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 482171082 5770917 HumanOmni1-Quad_v1-0_C_rs5770917-131_B_F_1865312722 1.15e-01 2012.02.01 2012.02.01 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 485375425 5770917 HumanOmni2.5-4v1_D_rs5770917-131_B_F_1857753437 1.15e-01 2012.02.05 2012.02.05 2003.04.21 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51017353T>C;NG_029213.1:g.9076A>G;NM_005198.4:c.*257A>G 491574227 5770917 .GWAS._290453_chr_22_51017353 1.15e-01 2012.03.06 2012.03.06 2003.04.21 2012.11.28 137 LEE 1120 NC_000022.10:g.51017393G>T;NG_029213.1:g.9036C>A;NM_005198.4:c.*217C>A 4402636 3180873 ge2129090 2002.04.25 2003.10.10 2002.05.29 2011.07.08 137 LEE 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 4402635 3180872 ge2129086 1.79e-01 2002.04.25 2003.10.10 2002.05.29 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 8025386 3180872 NT_011526.4_154394 1.79e-01 2003.04.15 2003.10.10 2002.05.29 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 15449832 3180872 NT_011526.5_212257 1.79e-01 2003.11.14 2003.11.22 2002.05.29 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 28459989 3180872 QH04560 1.79e-01 2004.07.07 2005.05.13 2002.05.29 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 112734604 3180872 CEU.trio.12.15.2008_3830362_chr22_49364260 1.79e-01 2008.12.18 2008.12.18 2002.05.29 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 160615368 3180872 HumanOmni1-Quad_v1-0_B_rs3180872-128_T_F_1562498775 1.79e-01 2009.08.06 2009.10.04 2002.05.29 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 204133512 3180872 BUSHMAN-chr22-49364259 1.79e-01 2010.03.10 2010.03.10 2002.05.29 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 228744452 3180872 pilot_1_YRI_10554135_chr22_49364260 1.79e-01 2010.04.22 2010.04.22 2002.05.29 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 238114353 3180872 pilot_1_CEU_7718982_chr22_49364260 1.79e-01 2010.05.01 2010.05.01 2002.05.29 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 244222429 3180872 pilot_1_CHB+JPT_6107506_chr22_49364260 1.79e-01 2010.05.01 2010.05.01 2002.05.29 2012.11.28 137 GMI 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 283678564 3180872 GMI_AK_SNP_7998987 1.79e-01 2010.12.16 2010.12.16 2002.05.29 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017394G>C;NG_029213.1:g.9035C>G;NM_005198.4:c.*216C>G 481675861 3180872 HumanOmni1-Quad_v1-0_C_rs3180872-131_T_F_1863368316 1.79e-01 2012.02.01 2012.02.01 2002.05.29 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51017402A>C;NG_029213.1:g.9027T>G;NM_005198.4:c.*208T>G 52060857 41281533 NT_011526.6_237465 3.20e-03 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017402A>C;NG_029213.1:g.9027T>G;NM_005198.4:c.*208T>G 228744453 41281533 pilot_1_YRI_10554136_chr22_49364268 3.20e-03 2010.04.22 2010.04.22 2006.10.18 2012.11.28 137 LEE 1120 NC_000022.10:g.51017416T>G;NG_029213.1:g.9013A>C;NM_005198.4:c.*194A>C 1537234 1135081 698477 2000.09.13 2003.10.10 2000.10.13 2011.07.08 137 LEE 1120 NC_000022.10:g.51017416T>G;NG_029213.1:g.9013A>C;NM_005198.4:c.*194A>C 4397949 1135081 ge698477 2002.04.25 2003.10.10 2000.10.13 2011.07.08 137 LEE 1120 NC_000022.10:g.51017416T>G;NG_029213.1:g.9013A>C;NM_005198.4:c.*194A>C 4425231 1135081 e698477 2002.04.26 2003.10.10 2000.10.13 2011.07.08 137 LEE 1120 NC_000022.10:g.51017439C>T;NG_029213.1:g.8990G>A;NM_005198.4:c.*171G>A 1537226 1056971 698297 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 1537217 1056964 698031 1.80e-01 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 CGAP-GAI 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 4322930 1056964 269035 1.80e-01 2001.11.28 2003.10.10 2000.10.05 2012.11.28 137 LEE 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 4397940 1056964 ge698031 1.80e-01 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 4425216 1056964 e698031 1.80e-01 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 8025254 1056964 NT_011526.4_154476 1.80e-01 2003.04.15 2004.05.16 2000.10.05 2012.11.28 137 CGAP-GAI 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 16249551 1056964 1498156 1.80e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 KYUGEN 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 28459988 1056964 QH04591 1.80e-01 2004.07.07 2005.05.13 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 78680052 1056964 Cor12878_SNV_20070510.chr22_49307620 1.80e-01 2007.10.20 2007.10.20 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 112734608 1056964 CEU.trio.12.15.2008_3830363_chr22_49364342 1.80e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 159910919 1056964 HumanOmni1-Quad_v1-0_B_rs1056964-128_B_F_1562490188 1.80e-01 2009.08.04 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 169003657 1056964 Human1M-Duov3_B_GA018326-0_B_R_1533445980 1.80e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 204133514 1056964 BUSHMAN-chr22-49364341 1.80e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 228744454 1056964 pilot_1_YRI_10554137_chr22_49364342 1.80e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 238114354 1056964 pilot_1_CEU_7718983_chr22_49364342 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 244222430 1056964 pilot_1_CHB+JPT_6107507_chr22_49364342 1.80e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 283678565 1056964 GMI_AK_SNP_7998988 1.80e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 479709564 1056964 HumanOmni1-Quad_v1-0_C_rs1056964-131_B_F_1863270493 1.80e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 482778929 1056964 HumanOmni2.5-4v1_D_kgp22792294-0_T_F_1860335727 1.80e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017476A>C;NC_000022.10:g.51017476A>G;NC_000022.10:g.51017476A>T;NG_029213.1:g.8953T>A;NG_029213.1:g.8953T>C;NG_029213.1:g.8953T>G;NM_005198.4:c.*134T>A;NM_005198.4:c.*134T>C;NM_005198.4:c.*134T>G 484336345 1056964 HumanOmni2.5-4v1_B_SNP22-49364342-0_T_F_1622144372 1.80e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51017484G>A;NC_000022.10:g.51017484G>C;NG_029213.1:g.8945C>G;NG_029213.1:g.8945C>T;NM_005198.4:c.*126C>G;NM_005198.4:c.*126C>T 169133502 112742765 Human1M-Duov3_B_GA036648-0_B_R_1533482498 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 1120 NC_000022.10:g.51017484G>A;NC_000022.10:g.51017484G>C;NG_029213.1:g.8945C>G;NG_029213.1:g.8945C>T;NM_005198.4:c.*126C>G;NM_005198.4:c.*126C>T 204133516 112742765 BUSHMAN-chr22-49364349 2010.03.10 2010.03.10 2010.07.04 2012.05.16 137 SC_SNP 1120 NC_000022.10:g.51017492G>A;NG_029213.1:g.8937C>T;NM_005198.4:c.*118C>T 13377120 9616871 NT_011526.5_212355 2003.10.22 2003.10.31 2003.12.05 2011.07.08 137 KYUGEN 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 28459987 17001634 QH04590 5.59e-02 2004.07.07 2005.05.13 2004.09.20 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 52060858 17001634 NT_011526.6_237577 5.59e-02 2006.03.29 2006.03.29 2004.09.20 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 83705939 17001634 Cor18555_SNV_20070510.chr22_49307658 5.59e-02 2007.12.05 2007.12.05 2004.09.20 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 91957365 17001634 JWB-1541241 5.59e-02 2008.03.02 2008.03.02 2004.09.20 2012.11.28 137 BGI 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 106234326 17001634 BGI_rs17001634 5.59e-02 2008.09.14 2009.06.18 2004.09.20 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 138373277 17001634 ENSSNP11945543 5.59e-02 2009.05.17 2009.05.17 2004.09.20 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 238114355 17001634 pilot_1_CEU_7718984_chr22_49364380 5.59e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 244222431 17001634 pilot_1_CHB+JPT_6107508_chr22_49364380 5.59e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 1120 NC_000022.10:g.51017514C>G;NG_029213.1:g.8915G>C;NM_005198.4:c.*96G>C 283678566 17001634 GMI_AK_SNP_7998989 5.59e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51017641C>T;NG_029213.1:g.8788G>A;NM_005198.4:c.1157G>A;NP_005189.2:p.Gly386Glu 342548022 140289037 ESP2500-chr22-51017641 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51017690G>A;NG_029213.1:g.8739C>T;NM_005198.4:c.1114-6C>T 341247002 151123092 20100804_snps_12890543_chr22_51017690 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017690G>A;NG_029213.1:g.8739C>T;NM_005198.4:c.1114-6C>T 491196903 151123092 20110521_exome_704701_chr22_51017690 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 TSC-CSHL 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 136503 762677 TSC0116516 1.77e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 ABI 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 44324395 762677 hCV25767726 1.77e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 78246035 762677 Cor12878_SNV_20070510.chr22_49307857 1.77e-01 2007.10.18 2007.10.18 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 85149568 762677 Cor18517_SNV_20070510.chr22_49307857 1.77e-01 2007.12.08 2007.12.08 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 112734612 762677 CEU.trio.12.15.2008_3830364_chr22_49364579 1.77e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 204133518 762677 BUSHMAN-chr22-49364578 1.77e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 228744455 762677 pilot_1_YRI_10554138_chr22_49364579 1.77e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 238114356 762677 pilot_1_CEU_7718985_chr22_49364579 1.77e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 244222432 762677 pilot_1_CHB+JPT_6107509_chr22_49364579 1.77e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 283678567 762677 GMI_AK_SNP_7998990 1.77e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017713G>A;NG_029213.1:g.8716C>T;NM_005198.4:c.1114-29C>T 491196904 762677 20110521_exome_704702_chr22_51017713 1.77e-01 2012.02.22 2012.02.22 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017774C>T;NG_029213.1:g.8655G>A;NM_005198.4:c.1113+81G>A 466244360 185353265 20101123_snps_12411590_chr22_51017774 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 136502 762676 TSC0116515 1.79e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 YUSUKE 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 3203442 762676 IMS-JST023526 1.79e-01 2001.09.05 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 15449828 762676 NT_011526.5_212657 1.79e-01 2003.11.14 2003.11.22 2000.10.05 2012.11.28 137 ABI 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 44305083 762676 hCV2251414 1.79e-01 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 78575925 762676 Cor12878_SNV_20070510.chr22_49307938 1.79e-01 2007.10.20 2007.10.20 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 85900362 762676 Cor18517_SNV_20070510.chr22_49307938 1.79e-01 2007.12.10 2007.12.10 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 112734616 762676 CEU.trio.12.15.2008_3830365_chr22_49364660 1.79e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 204133520 762676 BUSHMAN-chr22-49364659 1.79e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 228744456 762676 pilot_1_YRI_10554139_chr22_49364660 1.79e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 238114357 762676 pilot_1_CEU_7718986_chr22_49364660 1.79e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 244222433 762676 pilot_1_CHB+JPT_6107510_chr22_49364660 1.79e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51017794A>G;NG_029213.1:g.8635T>C;NM_005198.4:c.1113+61T>C 283678568 762676 GMI_AK_SNP_7998991 1.79e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51017889T>C;NG_029213.1:g.8540A>G;NM_005198.4:c.1079A>G;NP_005189.2:p.Gln360Arg 342548023 150361827 ESP2500-chr22-51017889 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 1120 NC_000022.10:g.51018157G>A;NG_029213.1:g.8272C>T;NM_005198.4:c.1030C>T;NP_005189.2:p.Arg344Trp 342548024 138074497 ESP2500-chr22-51018157 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51018157G>A;NG_029213.1:g.8272C>T;NM_005198.4:c.1030C>T;NP_005189.2:p.Arg344Trp 491574228 138074497 splice_290454_chr_22_51018157 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018204T>C;NG_029213.1:g.8225A>G;NM_005198.4:c.983A>G;NP_005189.2:p.Gln328Arg 341247003 141381896 20100804_snps_12890544_chr22_51018204 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018204T>C;NG_029213.1:g.8225A>G;NM_005198.4:c.983A>G;NP_005189.2:p.Gln328Arg 342548025 141381896 ESP2500-chr22-51018204 2.70e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018204T>C;NG_029213.1:g.8225A>G;NM_005198.4:c.983A>G;NP_005189.2:p.Gln328Arg 491196905 141381896 20110521_exome_704703_chr22_51018204 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51018204T>C;NG_029213.1:g.8225A>G;NM_005198.4:c.983A>G;NP_005189.2:p.Gln328Arg 491574229 141381896 nonsyn_290455_chr_22_51018204 2.70e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51018204T>C;NG_029213.1:g.8225A>G;NM_005198.4:c.983A>G;NP_005189.2:p.Gln328Arg 491827998 141381896 SNV-chr22-49365070 2.70e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018226T>C;NG_029213.1:g.8203A>G;NM_005198.4:c.961A>G;NP_005189.2:p.Lys321Glu 342548026 143218928 ESP2500-chr22-51018226 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 1120 NC_000022.10:g.51018243T>C;NG_029213.1:g.8186A>G;NM_005198.4:c.944A>G;NP_005189.2:p.His315Arg 491827999 199641367 SNV-chr22-49365109 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51018247G>A;NG_029213.1:g.8182C>T;NM_005198.4:c.940C>T;NP_005189.2:p.Arg314Cys 491828000 200919604 SNV-chr22-49365113 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018297T>C;NG_029213.1:g.8132A>G;NM_005198.4:c.928-38A>G 466244361 188223105 20101123_snps_12411591_chr22_51018297 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018297T>C;NG_029213.1:g.8132A>G;NM_005198.4:c.928-38A>G 491196906 188223105 20110521_exome_704704_chr22_51018297 2.30e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018405G>C;NG_029213.1:g.8024C>G;NM_005198.4:c.925C>G;NP_005189.2:p.Gln309Glu 342548027 139059552 ESP2500-chr22-51018405 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 1120 NC_000022.10:g.51018422T>C;NG_029213.1:g.8007A>G;NM_005198.4:c.908A>G;NP_005189.2:p.Tyr303Cys 342548028 143061031 ESP2500-chr22-51018422 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 1120 NC_000022.10:g.51018428G>A;NG_029213.1:g.8001C>T;NM_005198.4:c.902C>T;NP_005189.2:p.Thr301Ile 342548029 147485527 ESP2500-chr22-51018428 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51018428G>A;NG_029213.1:g.8001C>T;NM_005198.4:c.902C>T;NP_005189.2:p.Thr301Ile 491574230 147485527 nonsyn_290456_chr_22_51018428 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018460G>T;NG_029213.1:g.7969C>A;NM_005198.4:c.870C>A;NP_005189.2:p.His290Gln 342548030 140020889 ESP2500-chr22-51018460 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51018564G>A;NG_029213.1:g.7865C>T;NM_005198.4:c.819-53C>T 228744457 74605815 pilot_1_YRI_10554140_chr22_49365430 2.15e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018564G>A;NG_029213.1:g.7865C>T;NM_005198.4:c.819-53C>T 482905933 74605815 HumanOmni2.5-4v1_D_kgp22834684-0_T_F_1860420506 2.15e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018564G>A;NG_029213.1:g.7865C>T;NM_005198.4:c.819-53C>T 484336347 74605815 HumanOmni2.5-4v1_B_SNP22-49365430-0_T_F_1623588138 2.15e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018574G>A;NG_029213.1:g.7855C>T;NM_005198.4:c.818+45C>T 489223056 199997732 20110521_exome_284746_chr22_51018574 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 149008 140514 Em:U62317_60303 3.86e-01 2000.06.12 2004.04.07 2000.06.24 2012.11.28 137 YUSUKE 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 2988146 140514 IMS-JST000256 3.86e-01 2001.05.24 2003.10.10 2000.06.24 2012.11.28 137 HGBASE 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 3182677 140514 SNP000568261 3.86e-01 2001.07.09 2003.10.10 2000.06.24 2012.11.28 137 WI_SSAHASNP 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 6662710 140514 NT_011526.4_155579 3.86e-01 2003.02.13 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 13376919 140514 NT_011526.5_213442 3.86e-01 2003.10.22 2003.11.17 2000.06.24 2012.11.28 137 CSHL-HAPMAP 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 16928550 140514 CSHL-HuAA-200402.chr22.NT_011526.5_213442 3.86e-01 2004.02.18 2004.03.04 2000.06.24 2012.11.28 137 AFFY 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 74827413 140514 SNP_M-583636 3.86e-01 2007.08.09 2007.08.09 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 75047485 140514 ILMN_Human_1M_rs140514 3.86e-01 2007.08.29 2007.08.29 2000.06.24 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 76886077 140514 NT_011526.6_238642 3.86e-01 2007.09.20 2007.09.20 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 91957368 140514 JWB-1541242 3.86e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 96133340 140514 1103691067486 3.86e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 112734620 140514 CEU.trio.12.15.2008_3830366_chr22_49365445 3.86e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 KRIBB_YJKIM 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 119341620 140514 KHS1503867 3.86e-01 2009.02.04 2009.02.04 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 138373278 140514 ENSSNP11945544 3.86e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 139606968 140514 ENSSNP7740191 3.86e-01 2009.05.19 2009.10.16 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 157312799 140514 GMI_SNP_24799834 3.86e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 160348456 140514 HumanOmni1-Quad_v1-0_B_rs140514-128_B_F_1513991419 3.86e-01 2009.08.06 2009.10.02 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 168189288 140514 NA07022_36_chr22_49365445 3.86e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 172096762 140514 NA20431_36_chr22_49365445 3.86e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 172476795 140514 Human1M-Duov3_B_rs140514-127_B_F_1513991419 3.86e-01 2009.10.02 2009.10.02 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 204133521 140514 BUSHMAN-chr22-49365444 3.86e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 228744458 140514 pilot_1_YRI_10554141_chr22_49365445 3.86e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 238114358 140514 pilot_1_CEU_7718987_chr22_49365445 3.86e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 244222434 140514 pilot_1_CHB+JPT_6107511_chr22_49365445 3.86e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 283678569 140514 GMI_AK_SNP_7998992 3.86e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 292731090 140514 SNP_2237448_chr22_49365445 3.86e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 479959654 140514 HumanOmni2.5-4v1_B_rs140514-128_B_F_1773822825 3.86e-01 2012.01.31 2012.01.31 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 479968114 140514 HumanOmniExpress-12v1_C_rs140514-131_B_F_1863906064 3.86e-01 2012.01.31 2012.01.31 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 480611681 140514 HumanOmni1-Quad_v1-0_C_rs140514-131_B_F_1864483811 3.86e-01 2012.01.31 2012.01.31 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 484778059 140514 HumanOmni2.5-4v1_D_rs140514-131_B_F_1864483811 3.86e-01 2012.02.04 2012.02.04 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 491196907 140514 20110521_exome_704705_chr22_51018579 3.86e-01 2012.02.22 2012.02.22 2000.06.24 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51018579A>G;NG_029213.1:g.7850T>C;NM_005198.4:c.818+40T>C 491828001 140514 SNV-chr22-49365445 3.86e-01 2012.03.07 2012.03.13 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018623A>G;NG_029213.1:g.7806T>C;NM_005198.4:c.814T>C;NP_005189.2:p.Tyr272His 489223058 202048376 20110521_exome_284747_chr22_51018623 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018634C>T;NG_029213.1:g.7795G>A;NM_005198.4:c.803G>A;NP_005189.2:p.Ser268Asn 489223060 201148042 20110521_exome_284748_chr22_51018634 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018707G>A;NG_029213.1:g.7722C>T;NM_005198.4:c.737-7C>T 466244362 192728067 20101123_snps_12411592_chr22_51018707 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018707G>A;NG_029213.1:g.7722C>T;NM_005198.4:c.737-7C>T 491196908 192728067 20110521_exome_704706_chr22_51018707 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 PJP 1120 NC_000022.10:g.51018734G>A;NG_029213.1:g.7695C>T;NM_005198.4:c.737-34C>T 292731091 144789175 SNP_2237449_chr22_49365600 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51018814C>T;NG_029213.1:g.7615G>A;NM_005198.4:c.709G>A;NP_005189.2:p.Val237Ile 466244363 184254424 20101123_snps_12411593_chr22_51018814 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018814C>T;NG_029213.1:g.7615G>A;NM_005198.4:c.709G>A;NP_005189.2:p.Val237Ile 491196909 184254424 20110521_exome_704707_chr22_51018814 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51018814C>T;NG_029213.1:g.7615G>A;NM_005198.4:c.709G>A;NP_005189.2:p.Val237Ile 491574231 184254424 nonsyn_290457_chr_22_51018814 9.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018815G>A;NG_029213.1:g.7614C>T;NM_005198.4:c.708C>T;NP_005189.2:p.Val236= 342548031 141934594 ESP2500-chr22-51018815 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 1120 NC_000022.10:g.51018818T>G;NG_029213.1:g.7611A>C;NM_005198.4:c.705A>C;NP_005189.2:p.Pro235= 342548032 150676350 ESP2500-chr22-51018818 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 1120 NC_000022.10:g.51018819G>C;NG_029213.1:g.7610C>G;NM_005198.4:c.704C>G;NP_005189.2:p.Pro235Arg 491828002 199847760 SNV-chr22-49365685 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51018821C>T;NG_029213.1:g.7608G>A;NM_005198.4:c.702G>A;NP_005189.2:p.Ser234= 342548033 139952595 ESP2500-chr22-51018821 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GMI 1120 NC_000022.10:g.51018831G>C;NG_029213.1:g.7598C>G;NM_005198.4:c.692C>G;NP_005189.2:p.Ser231Cys 283678570 199783402 GMI_AK_SNP_7998993 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 YUSUKE 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 3203441 2269382 IMS-JST023525 1.11e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 8025387 2269382 NT_011526.4_155911 1.11e-01 2003.04.15 2004.08.05 2001.09.28 2012.11.28 137 KRIBB_YJKIM 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 65827769 2269382 KHS3558 1.11e-01 2006.10.17 2006.12.16 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 67239582 2269382 HumanHap550v1.1_rs2269382 1.11e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 67636156 2269382 HumanHap650Yv1.0_rs2269382 1.11e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 68200808 2269382 HumanHap250Sv1.0_rs2269382 1.11e-01 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 70717920 2269382 HumanHap550v3.0__rs2269382 1.11e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 71286075 2269382 HumanHap650Yv3.0_rs2269382 1.11e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 74914724 2269382 ILMN_Human_1M_rs2269382 1.11e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 SI_EXO 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 76899276 2269382 NT_011526.6_238974 1.11e-01 2007.09.20 2007.09.20 2001.09.28 2012.11.28 137 KRIBB_YJKIM 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 84013707 2269382 KHS601919 1.11e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 112734624 2269382 CEU.trio.12.15.2008_3830367_chr22_49365777 1.11e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 153896605 2269382 Human610_Quadv1_B_rs2269382-117_B_R_1502186603 1.11e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 159374447 2269382 Human660W-Quad_v1_A_rs2269382-117_B_R_1502186603 1.11e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 173228400 2269382 Human1M-Duov3_B_rs2269382-117_B_R_1502186603 1.11e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 204133523 2269382 BUSHMAN-chr22-49365776 1.11e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 228744459 2269382 pilot_1_YRI_10554142_chr22_49365777 1.11e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 238114359 2269382 pilot_1_CEU_7718988_chr22_49365777 1.11e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 244222435 2269382 pilot_1_CHB+JPT_6107512_chr22_49365777 1.11e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 283678571 2269382 GMI_AK_SNP_7998994 1.11e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51018911C>T;NG_029213.1:g.7518G>A;NM_005198.4:c.678-66G>A 410921222 2269382 Cardio-Metabo_Chip_11395247_A_rs2269382 1.11e-01 2011.06.07 2011.06.07 2001.09.28 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51018942C>A;NG_029213.1:g.7487G>T;NM_005198.4:c.677+52G>T 8308553 6010012 NT_011526.4_155942 7.46e-02 2003.04.17 2003.10.10 2003.04.21 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51018942C>A;NG_029213.1:g.7487G>T;NM_005198.4:c.677+52G>T 114374305 6010012 NA19240_2008_12_16_3464475_chr22_49365808 7.46e-02 2008.12.18 2008.12.18 2003.04.21 2011.09.09 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51018942C>A;NG_029213.1:g.7487G>T;NM_005198.4:c.677+52G>T 169627376 6010012 NA19240_36_chr22_49365808 7.46e-02 2009.10.01 2009.10.01 2003.04.21 2011.09.09 137 BUSHMAN 1120 NC_000022.10:g.51018942C>A;NG_029213.1:g.7487G>T;NM_005198.4:c.677+52G>T 204133525 6010012 BUSHMAN-chr22-49365807 7.46e-02 2010.03.10 2010.03.10 2003.04.21 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51018942C>A;NG_029213.1:g.7487G>T;NM_005198.4:c.677+52G>T 228744460 6010012 pilot_1_YRI_10554143_chr22_49365808 7.46e-02 2010.04.22 2010.04.22 2003.04.21 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51018955G>A;NG_029213.1:g.7474C>T;NM_005198.4:c.677+39C>T 341247004 145253375 20100804_snps_12890545_chr22_51018955 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51018955G>A;NG_029213.1:g.7474C>T;NM_005198.4:c.677+39C>T 491196910 145253375 20110521_exome_704708_chr22_51018955 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019001T>G;NG_029213.1:g.7428A>C;NM_005198.4:c.670A>C;NP_005189.2:p.Asn224His 342548034 149858290 ESP2500-chr22-51019001 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51019001T>G;NG_029213.1:g.7428A>C;NM_005198.4:c.670A>C;NP_005189.2:p.Asn224His 491574232 149858290 nonsyn_290458_chr_22_51019001 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51019001T>G;NG_029213.1:g.7428A>C;NM_005198.4:c.670A>C;NP_005189.2:p.Asn224His 491828003 149858290 SNV-chr22-49365867 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019074G>A;NG_029213.1:g.7355C>T;NM_005198.4:c.597C>T;NP_005189.2:p.Ile199= 342548035 146409721 ESP2500-chr22-51019074 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51019074G>A;NG_029213.1:g.7355C>T;NM_005198.4:c.597C>T;NP_005189.2:p.Ile199= 491828004 146409721 SNV-chr22-49365940 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019105T>C;NG_029213.1:g.7324A>G;NM_005198.4:c.582-16A>G 489223062 200085590 20110521_exome_284749_chr22_51019105 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 169003676 75187587 Human1M-Duov3_B_GA018327-0_T_F_1533449489 8.61e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 204133527 75187587 BUSHMAN-chr22-49365978 8.61e-02 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 212138857 75187587 YRI.trio.3.2010_1527970_chr22_49365979 8.61e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 228744461 75187587 pilot_1_YRI_10554144_chr22_49365979 8.61e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 244222436 75187587 pilot_1_CHB+JPT_6107513_chr22_49365979 8.61e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 283678572 75187587 GMI_AK_SNP_7998995 8.61e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019113A>C;NG_029213.1:g.7316T>G;NM_005198.4:c.582-24T>G 491196911 75187587 20110521_exome_704709_chr22_51019113 8.61e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019138C>T;NG_029213.1:g.7291G>A;NM_005198.4:c.582-49G>A 228744462 114810820 pilot_1_YRI_10554145_chr22_49366004 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019138C>T;NG_029213.1:g.7291G>A;NM_005198.4:c.582-49G>A 491196912 114810820 20110521_exome_704710_chr22_51019138 5.50e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51019142G>T;NG_029213.1:g.7287C>A;NM_005198.4:c.582-53C>A 204133529 74846249 BUSHMAN-chr22-49366007 1.08e-01 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019142G>T;NG_029213.1:g.7287C>A;NM_005198.4:c.582-53C>A 212138859 74846249 YRI.trio.3.2010_1527971_chr22_49366008 1.08e-01 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019142G>T;NG_029213.1:g.7287C>A;NM_005198.4:c.582-53C>A 228744463 74846249 pilot_1_YRI_10554146_chr22_49366008 1.08e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019142G>T;NG_029213.1:g.7287C>A;NM_005198.4:c.582-53C>A 244222437 74846249 pilot_1_CHB+JPT_6107514_chr22_49366008 1.08e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019142G>T;NG_029213.1:g.7287C>A;NM_005198.4:c.582-53C>A 283678573 74846249 GMI_AK_SNP_7998996 1.08e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019198T>A;NG_029213.1:g.7231A>T;NM_005198.4:c.582-109A>T 157312805 79860420 GMI_SNP_476372300 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019198T>A;NG_029213.1:g.7231A>T;NM_005198.4:c.582-109A>T 283678574 79860420 GMI_AK_SNP_7998997 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019199G>T;NG_029213.1:g.7230C>A;NM_005198.4:c.582-110C>A 157312812 74347670 GMI_SNP_476065153 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019199G>T;NG_029213.1:g.7230C>A;NM_005198.4:c.582-110C>A 283678575 74347670 GMI_AK_SNP_7998998 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019201C>G;NG_029213.1:g.7228G>C;NM_005198.4:c.582-112G>C 157312819 78744017 GMI_SNP_476684572 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 1120 NC_000022.10:g.51019201C>G;NG_029213.1:g.7228G>C;NM_005198.4:c.582-112G>C 283678576 78744017 GMI_AK_SNP_7998999 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019202C>G;NG_029213.1:g.7227G>C;NM_005198.4:c.582-113G>C 228744464 114349343 pilot_1_YRI_10554147_chr22_49366068 2.15e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51019269C>T;NG_029213.1:g.7160G>A;NM_005198.4:c.582-180G>A 466244364 188365266 20101123_snps_12411594_chr22_51019269 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51019271C>T;NG_029213.1:g.7158G>A;NM_005198.4:c.582-182G>A 8308554 6010013 NT_011526.4_156271 4.44e-02 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51019271C>T;NG_029213.1:g.7158G>A;NM_005198.4:c.582-182G>A 204133531 6010013 BUSHMAN-chr22-49366136 4.44e-02 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019271C>T;NG_029213.1:g.7158G>A;NM_005198.4:c.582-182G>A 341247005 6010013 20100804_snps_12890546_chr22_51019271 4.44e-02 2011.03.22 2011.03.22 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51019438G>A;NG_029213.1:g.6991C>T;NM_005198.4:c.582-349C>T 283678577 140798606 GMI_AK_SNP_7999000 5.54e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019438G>A;NG_029213.1:g.6991C>T;NM_005198.4:c.582-349C>T 341247006 140798606 20100804_snps_12890547_chr22_51019438 5.54e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51019615C>T;NG_029213.1:g.6814G>A;NM_005198.4:c.581+234G>A 91957370 62239538 JWB-3054356 5.59e-02 2008.03.02 2008.03.02 2008.03.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51019615C>T;NG_029213.1:g.6814G>A;NM_005198.4:c.581+234G>A 138373279 62239538 ENSSNP11945545 5.59e-02 2009.05.17 2009.05.17 2008.03.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51019615C>T;NG_029213.1:g.6814G>A;NM_005198.4:c.581+234G>A 283678578 62239538 GMI_AK_SNP_7999001 5.59e-02 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019615C>T;NG_029213.1:g.6814G>A;NM_005198.4:c.581+234G>A 341247007 62239538 20100804_snps_12890548_chr22_51019615 5.59e-02 2011.03.22 2011.03.22 2008.03.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019632T>C;NG_029213.1:g.6797A>G;NM_005198.4:c.581+217A>G 466244365 181811083 20101123_snps_12411595_chr22_51019632 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SI_EXO 1120 NC_000022.10:g.51019711G>C;NG_029213.1:g.6718C>G;NM_005198.4:c.581+138C>G 52060869 41282355 NT_011526.6_239774 1.19e-02 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019711G>C;NG_029213.1:g.6718C>G;NM_005198.4:c.581+138C>G 238114360 41282355 pilot_1_CEU_7718989_chr22_49366577 1.19e-02 2010.05.01 2010.05.01 2006.10.18 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51019794T>G;NG_029213.1:g.6635A>C;NM_005198.4:c.581+55A>C 35184517 28442108 TA-079.chr22_49309938 2005.03.11 2005.05.24 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51019802A>T;NG_029213.1:g.6627T>A;NM_005198.4:c.581+47T>A 489223064 201981381 20110521_exome_284750_chr22_51019802 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019849C>T;NG_029213.1:g.6580G>A;NM_005198.4:c.581G>A;NP_005189.2:p.Arg194Gln 342548036 139818555 ESP2500-chr22-51019849 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51019849C>T;NG_029213.1:g.6580G>A;NM_005198.4:c.581G>A;NP_005189.2:p.Arg194Gln 491574233 139818555 splice_290459_chr_22_51019849 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019857G>T;NG_029213.1:g.6572C>A;NM_005198.4:c.573C>A;NP_005189.2:p.Thr191= 489223066 201476966 20110521_exome_284751_chr22_51019857 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019861C>T;NG_029213.1:g.6568G>A;NM_005198.4:c.569G>A;NP_005189.2:p.Gly190Glu 342548037 143210467 ESP2500-chr22-51019861 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51019914C>T;NG_029213.1:g.6515G>A;NM_005198.4:c.516G>A;NP_005189.2:p.Ala172= 489223068 200220080 20110521_exome_284752_chr22_51019914 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019929A>C;NG_029213.1:g.6500T>G;NM_005198.4:c.501T>G;NP_005189.2:p.Ile167Met 489223070 199704510 20110521_exome_284753_chr22_51019929 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019973A>G;NG_029213.1:g.6456T>C;NM_005198.4:c.457T>C;NP_005189.2:p.Leu153= 342548038 146693439 ESP2500-chr22-51019973 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019973A>G;NG_029213.1:g.6456T>C;NM_005198.4:c.457T>C;NP_005189.2:p.Leu153= 489223072 146693439 20110521_exome_284754_chr22_51019973 9.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 CLINSEQ_SNP 1120 NC_000022.10:g.51019973A>G;NG_029213.1:g.6456T>C;NM_005198.4:c.457T>C;NP_005189.2:p.Leu153= 491828005 146693439 SNV-chr22-49366839 9.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019978C>T;NG_029213.1:g.6451G>A;NM_005198.4:c.452G>A;NP_005189.2:p.Arg151Gln 466244366 184839240 20101123_snps_12411596_chr22_51019978 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51019978C>T;NG_029213.1:g.6451G>A;NM_005198.4:c.452G>A;NP_005189.2:p.Arg151Gln 491196913 184839240 20110521_exome_704711_chr22_51019978 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51019979G>A;NG_029213.1:g.6450C>T;NM_005198.4:c.451C>T;NP_005189.2:p.Arg151Trp 342548039 148857303 ESP2500-chr22-51019979 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 YUSUKE 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 3203440 2269381 IMS-JST023524 1.13e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 8025255 2269381 NT_011526.4_157069 1.13e-01 2003.04.15 2004.08.05 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 112734628 2269381 CEU.trio.12.15.2008_3830368_chr22_49366935 1.13e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 204133533 2269381 BUSHMAN-chr22-49366934 1.13e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 238114361 2269381 pilot_1_CEU_7718990_chr22_49366935 1.13e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 244222438 2269381 pilot_1_CHB+JPT_6107515_chr22_49366935 1.13e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 1120 NC_000022.10:g.51020069G>C;NG_029213.1:g.6360C>G;NM_005198.4:c.448-87C>G 283678579 2269381 GMI_AK_SNP_7999002 1.13e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51020131G>A;NG_029213.1:g.6298C>T;NM_005198.4:c.447+47C>T 172096768 113158900 NA20431_36_chr22_49366997 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BCMHGSC_JDW 1120 NC_000022.10:g.51020171C>A;NG_029213.1:g.6258G>T;NM_005198.4:c.447+7G>T 91957372 62239539 JWB-3054357 2008.03.02 2008.03.02 2008.03.24 2011.09.09 137 ENSEMBL 1120 NC_000022.10:g.51020171C>A;NG_029213.1:g.6258G>T;NM_005198.4:c.447+7G>T 138373280 62239539 ENSSNP11945546 2009.05.17 2009.05.17 2008.03.24 2011.09.09 137 CLINSEQ_SNP 1120 NC_000022.10:g.51020197C>G;NG_029213.1:g.6232G>C;NM_005198.4:c.428G>C;NP_005189.2:p.Arg143Pro 491828006 201257544 SNV-chr22-49367063 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51020271T>C;NG_029213.1:g.6158A>G;NM_005198.4:c.354A>G;NP_005189.2:p.Leu118= 342548040 142607228 ESP2500-chr22-51020271 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51020279G>A;NG_029213.1:g.6150C>T;NM_005198.4:c.346C>T;NP_005189.2:p.Leu116= 466244367 189564179 20101123_snps_12411597_chr22_51020279 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020279G>A;NG_029213.1:g.6150C>T;NM_005198.4:c.346C>T;NP_005189.2:p.Leu116= 491196914 189564179 20110521_exome_704712_chr22_51020279 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51020291C>G;NG_029213.1:g.6138G>C;NM_005198.4:c.334G>C;NP_005189.2:p.Gly112Arg 342548041 150987240 ESP2500-chr22-51020291 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51020308A>G;NG_029213.1:g.6121T>C;NM_005198.4:c.334-17T>C 341247008 138424307 20100804_snps_12890549_chr22_51020308 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51020383T>C;NG_029213.1:g.6046A>G;NM_005198.4:c.334-92A>G 341247009 149303496 20100804_snps_12890550_chr22_51020383 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51020479G>C;NG_029213.1:g.5950C>G;NM_005198.4:c.334-188C>G 341247010 143525998 20100804_snps_12890551_chr22_51020479 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51020621T>C;NG_029213.1:g.5808A>G;NM_005198.4:c.333+57A>G 341247011 138208848 20100804_snps_12890552_chr22_51020621 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 92785 86337 TSC0116514 3.11e-01 2000.09.06 2004.05.16 2000.06.24 2012.11.28 137 SC 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 139450 86337 Em:U62317_58214 3.11e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 YUSUKE 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 4933297 86337 IMS-JST098907 3.11e-01 2002.08.01 2003.10.10 2000.06.24 2012.11.28 137 SC_JCM 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 5725112 86337 NT_011526.4_157668 3.11e-01 2003.01.11 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 8025389 86337 NT_011526.4_157668 3.11e-01 2003.04.15 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 13377122 86337 NT_011526.5_215531 3.11e-01 2003.10.22 2003.10.31 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 44310513 86337 hCV2251412 3.11e-01 2005.07.18 2005.07.18 2000.06.24 2012.11.28 137 KRIBB_YJKIM 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 65824371 86337 KHS155 3.11e-01 2006.10.17 2006.12.16 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 91957374 86337 JWB-1541243 3.11e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 96133341 86337 1103691067485 3.11e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 BGI 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 106234327 86337 BGI_rs86337 3.11e-01 2008.09.14 2009.06.18 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 112734632 86337 CEU.trio.12.15.2008_3830369_chr22_49367534 3.11e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 114374315 86337 NA19240_2008_12_16_3464476_chr22_49367534 3.11e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 138373281 86337 ENSSNP11945547 3.11e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 143209343 86337 ENSSNP9578034 3.11e-01 2009.06.06 2009.10.17 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 157312825 86337 GMI_SNP_64937221 3.11e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 168189300 86337 NA07022_36_chr22_49367534 3.11e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 169627396 86337 NA19240_36_chr22_49367534 3.11e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 172096776 86337 NA20431_36_chr22_49367534 3.11e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 204133535 86337 BUSHMAN-chr22-49367533 3.11e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 228744465 86337 pilot_1_YRI_10554148_chr22_49367534 3.11e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 238114363 86337 pilot_1_CEU_7718992_chr22_49367534 3.11e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 244222439 86337 pilot_1_CHB+JPT_6107516_chr22_49367534 3.11e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 283678580 86337 GMI_AK_SNP_7999003 3.11e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 292731092 86337 SNP_2237450_chr22_49367534 3.11e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 482820886 86337 HumanOmni2.5-4v1_D_kgp22806386-0_T_F_1860363911 3.11e-01 2012.02.02 2012.02.02 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 484336349 86337 HumanOmni2.5-4v1_B_SNP22-49367534-0_T_F_1622207924 3.11e-01 2012.02.03 2012.02.03 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020668C>A;NG_029213.1:g.5761G>T;NM_005198.4:c.333+10G>T 491196915 86337 20110521_exome_704713_chr22_51020668 3.11e-01 2012.02.22 2012.02.22 2000.06.24 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51020736G>A;NG_029213.1:g.5693C>T;NM_005198.4:c.275C>T;NP_005189.2:p.Pro92Leu 342548042 140867913 ESP2500-chr22-51020736 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51020736G>A;NG_029213.1:g.5693C>T;NM_005198.4:c.275C>T;NP_005189.2:p.Pro92Leu 491574234 140867913 nonsyn_290460_chr_22_51020736 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51020748G>A;NG_029213.1:g.5681C>T;NM_005198.4:c.263C>T;NP_005189.2:p.Pro88Leu 342548043 146163970 ESP2500-chr22-51020748 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 MPI_MOLGEN 1120 NC_000022.10:g.51020762G>A;NG_029213.1:g.5667C>T;NM_005198.4:c.249C>T;NP_005189.2:p.Phe83= 469270936 180979987 Chromosome22_49367628 5.00e-04 2011.08.15 2011.08.15 2011.09.17 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020762G>A;NG_029213.1:g.5667C>T;NM_005198.4:c.249C>T;NP_005189.2:p.Phe83= 489223074 180979987 20110521_exome_284755_chr22_51020762 5.00e-04 2012.02.14 2012.02.14 2011.09.17 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51020775C>T;NG_029213.1:g.5654G>A;NM_005198.4:c.236G>A;NP_005189.2:p.Ser79Asn 21847382 13054973 WGSA-200403-chr22.chr22.NT_011526.5_215638 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 1120 NC_000022.10:g.51020831C>A;NG_029213.1:g.5598G>T;NM_005198.4:c.225-45G>T 21847564 13055012 WGSA-200403-chr22.chr22.NT_011526.5_215694 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SEATTLESEQ 1120 NC_000022.10:g.51020995G>A;NG_029213.1:g.5434C>T;NM_005198.4:c.216C>T;NP_005189.2:p.Tyr72= 159745037 80067609 CHKB-49367861 1.83e-02 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020995G>A;NG_029213.1:g.5434C>T;NM_005198.4:c.216C>T;NP_005189.2:p.Tyr72= 228744466 80067609 pilot_1_YRI_10554149_chr22_49367861 1.83e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51020995G>A;NG_029213.1:g.5434C>T;NM_005198.4:c.216C>T;NP_005189.2:p.Tyr72= 342548044 80067609 ESP2500-chr22-51020995 1.83e-02 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51020995G>A;NG_029213.1:g.5434C>T;NM_005198.4:c.216C>T;NP_005189.2:p.Tyr72= 491196916 80067609 20110521_exome_704714_chr22_51020995 1.83e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51021015G>T;NG_029213.1:g.5414C>A;NM_005198.4:c.196C>A;NP_005189.2:p.Pro66Thr 342548045 141533752 ESP2500-chr22-51021015 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 1120 NC_000022.10:g.51021027G>A;NG_029213.1:g.5402C>T;NM_005198.4:c.184C>T;NP_005189.2:p.Arg62Cys 342548046 147043849 ESP2500-chr22-51021027 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51021027G>A;NG_029213.1:g.5402C>T;NM_005198.4:c.184C>T;NP_005189.2:p.Arg62Cys 491574235 147043849 nonsyn_290461_chr_22_51021027 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51021062T>C;NG_029213.1:g.5367A>G;NM_005198.4:c.149A>G;NP_005189.2:p.Tyr50Cys 342548047 138205828 ESP2500-chr22-51021062 0 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021062T>C;NG_029213.1:g.5367A>G;NM_005198.4:c.149A>G;NP_005189.2:p.Tyr50Cys 489223076 138205828 20110521_exome_284756_chr22_51021062 0 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 1120 NC_000022.10:g.51021062T>C;NG_029213.1:g.5367A>G;NM_005198.4:c.149A>G;NP_005189.2:p.Tyr50Cys 491574236 138205828 nonsyn_290462_chr_22_51021062 0 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 1120 NC_000022.10:g.51021131T>A;NG_029213.1:g.5298A>T;NM_005198.4:c.80A>T;NP_005189.2:p.Lys27Met 342548048 149592688 ESP2500-chr22-51021131 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 EXOME_CHIP 1120 NC_000022.10:g.51021197G>A;NG_029213.1:g.5232C>T;NM_005198.4:c.14C>T;NP_005189.2:p.Ala5Val 491574237 199703765 nonsyn_290463_chr_22_51021197 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 SI_EXO 1120 NC_000022.10:g.51021258C>A;NG_029213.1:g.5171G>T;NM_005198.4:c.-48G>T 52060870 41282357 NT_011526.6_241321 7.80e-03 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021258C>A;NG_029213.1:g.5171G>T;NM_005198.4:c.-48G>T 466244368 41282357 20101123_snps_12411598_chr22_51021258 7.80e-03 2011.07.20 2011.07.20 2006.10.18 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021258C>A;NG_029213.1:g.5171G>T;NM_005198.4:c.-48G>T 482711914 41282357 HumanOmni2.5-4v1_D_kgp22769813-0_B_R_1860512461 7.80e-03 2012.02.01 2012.02.01 2006.10.18 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021258C>A;NG_029213.1:g.5171G>T;NM_005198.4:c.-48G>T 484336351 41282357 HumanOmni2.5-4v1_B_SNP22-49368124-0_B_R_1627754630 7.80e-03 2012.02.03 2012.02.03 2006.10.18 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021258C>A;NG_029213.1:g.5171G>T;NM_005198.4:c.-48G>T 491196917 41282357 20110521_exome_704715_chr22_51021258 7.80e-03 2012.02.22 2012.02.22 2006.10.18 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021265_51021284del20;NG_029213.1:g.5145_5164del20;NM_005198.4:c.-74_-55del20 328117351 144647670 CEU_chr22_49368130_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 HGSV 1120 NC_000022.10:g.51021290delG;NC_000022.10:g.51021290delGinsTTCCTTCCGGCCGCGCTCGG;NG_029213.1:g.5139delC;NG_029213.1:g.5139delCinsCCGAGCGCGGCCGGAAGGAA;NM_005198.4:c.-80delC;NM_005198.4:c.-80delCinsCCGAGCGCGGCCGGAAGGAA 80882939 57453364 Cor12878_DIV_20070510.chr22_49311414-49311435_1 2007.11.27 2007.11.27 2007.12.14 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021290delG;NC_000022.10:g.51021290delGinsTTCCTTCCGGCCGCGCTCGG;NG_029213.1:g.5139delC;NG_029213.1:g.5139delCinsCCGAGCGCGGCCGGAAGGAA;NM_005198.4:c.-80delC;NM_005198.4:c.-80delCinsCCGAGCGCGGCCGGAAGGAA 80914883 57453364 Cor12878_DIV_20070510.chr22_49311414-49311435_2 2007.11.27 2007.11.27 2007.12.14 2012.11.28 137 DEVINE_LAB 1120 NC_000022.10:g.51021290delG;NC_000022.10:g.51021290delGinsTTCCTTCCGGCCGCGCTCGG;NG_029213.1:g.5139delC;NG_029213.1:g.5139delCinsCCGAGCGCGGCCGGAAGGAA;NM_005198.4:c.-80delC;NM_005198.4:c.-80delCinsCCGAGCGCGGCCGGAAGGAA 99929842 57453364 INDEL_GP36_2007a_853821_0 2008.05.06 2008.05.06 2007.12.14 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021307C>G;NG_029213.1:g.5122G>C;NM_005198.4:c.-97G>C 228744467 114094125 pilot_1_YRI_10554150_chr22_49368173 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51021479G>A;NG_029213.1:g.4950C>T;NM_005198.4:c.-269C>T 228744468 114926682 pilot_1_YRI_10554151_chr22_49368345 1.74e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 SC 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 139449 131757 Em:U62317_57303 1.28e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 13377123 131757 NT_011526.5_216442 1.28e-01 2003.10.22 2003.10.31 2000.06.24 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 21866677 131757 WGSA-200403-chr22.chr22.NT_011526.5_216442 1.28e-01 2004.03.20 2004.05.16 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 44319656 131757 hCV2531729 1.28e-01 2005.07.18 2005.07.18 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 78157573 131757 Cor12878_SNV_20070510.chr22_49311723 1.28e-01 2007.10.18 2007.10.18 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 78752141 131757 Cor18507_SNV_20070510.chr22_49311723 1.28e-01 2007.10.20 2007.10.20 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 82000219 131757 Cor18555_SNV_20070510.chr22_49311723 1.28e-01 2007.12.01 2007.12.01 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 82393023 131757 Cor18956_SNV_20070510.chr22_49311723 1.28e-01 2007.12.02 2007.12.02 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 82576835 131757 Cor19240_SNV_20070510.chr22_49311723 1.28e-01 2007.12.03 2007.12.03 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 91957376 131757 JWB-1541244 1.28e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 96133342 131757 1103691067484 1.28e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 BGI 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 106234328 131757 BGI_rs131757 1.28e-01 2008.09.14 2009.06.18 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 138373282 131757 ENSSNP11945548 1.28e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 168189317 131757 NA07022_36_chr22_49368445 1.28e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 204133537 131757 BUSHMAN-chr22-49368444 1.28e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 BCM-HGSC-SUB 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 208852767 131757 BCM_CMT_1011-3308202 1.28e-01 2010.03.20 2010.03.20 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 228744469 131757 pilot_1_YRI_10554152_chr22_49368445 1.28e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 238114365 131757 pilot_1_CEU_7718994_chr22_49368445 1.28e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51021579A>C;NG_029213.1:g.4850T>G;NM_005198.4:c.-369T>G 292731093 131757 SNP_2237451_chr22_49368445 1.28e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 SC 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 139448 131756 Em:U62317_57283 4.65e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 13377124 131756 NT_011526.5_216462 4.65e-01 2003.10.22 2003.10.31 2000.06.24 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 21849292 131756 WGSA-200403-chr22.chr22.NT_011526.5_216462 4.65e-01 2004.03.20 2004.03.20 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 44297665 131756 hCV2531728 4.65e-01 2005.07.18 2005.07.18 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 83991020 131756 Cor18956_SNV_20070510.chr22_49311743 4.65e-01 2007.12.06 2007.12.06 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 91957378 131756 JWB-1541245 4.65e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 96133343 131756 1103691067483 4.65e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 BGI 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 106234329 131756 BGI_rs131756 4.65e-01 2008.09.14 2009.06.18 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 138373283 131756 ENSSNP11945549 4.65e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 157312834 131756 GMI_SNP_24920808 4.65e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 160321314 131756 HumanOmni1-Quad_v1-0_B_rs131756-128_B_R_1577662147 4.65e-01 2009.08.06 2009.10.02 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 168189332 131756 NA07022_36_chr22_49368465 4.65e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 172096781 131756 NA20431_36_chr22_49368465 4.65e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 228744470 131756 pilot_1_YRI_10554153_chr22_49368465 4.65e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 238114366 131756 pilot_1_CEU_7718995_chr22_49368465 4.65e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 283678581 131756 GMI_AK_SNP_7999004 4.65e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 292731094 131756 SNP_2237452_chr22_49368465 4.65e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021599C>T;NG_029213.1:g.4830G>A;NM_005198.4:c.-389G>A 480501967 131756 HumanOmni1-Quad_v1-0_C_rs131756-131_B_R_1863293927 4.65e-01 2012.01.31 2012.01.31 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021681G>A;NG_029213.1:g.4748C>T;NM_005198.4:c.-471C>T 466244369 186951258 20101123_snps_12411599_chr22_51021681 1.33e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51021693C>G;NG_029213.1:g.4736G>C;NM_005198.4:c.-483G>C 341247012 143769659 20100804_snps_12890553_chr22_51021693 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51021759C>T;NG_029213.1:g.4670G>A;NM_005198.4:c.-549G>A 466244370 191271487 20101123_snps_12411600_chr22_51021759 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 8308555 6010014 NT_011526.4_158763 1.56e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 160756997 6010014 HumanOmni1-Quad_v1-0_B_rs6010014-128_B_F_1577662125 1.56e-01 2009.08.07 2009.10.04 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 169627412 6010014 NA19240_36_chr22_49368629 1.56e-01 2009.10.01 2009.10.01 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 204133539 6010014 BUSHMAN-chr22-49368628 1.56e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 212138861 6010014 YRI.trio.3.2010_1527972_chr22_49368629 1.56e-01 2010.03.31 2010.03.31 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 238114367 6010014 pilot_1_CEU_7718996_chr22_49368629 1.56e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 244222440 6010014 pilot_1_CHB+JPT_6107517_chr22_49368629 1.56e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51021763G>C;NG_029213.1:g.4666C>G;NM_005198.4:c.-553C>G 482200689 6010014 HumanOmni1-Quad_v1-0_C_rs6010014-131_B_F_1863423324 1.56e-01 2012.02.01 2012.02.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51021815G>A;NG_029213.1:g.4614C>T;NM_005198.4:c.-605C>T 341247014 140739000 20100804_snps_12890555_chr22_51021815 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51021816C>G;NG_029213.1:g.4613G>C;NM_005198.4:c.-606G>C 169627424 112714656 NA19240_36_chr22_49368682 3.02e-02 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 1120 NC_000022.10:g.51021816C>G;NG_029213.1:g.4613G>C;NM_005198.4:c.-606G>C 204133541 112714656 BUSHMAN-chr22-49368681 3.02e-02 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51021816C>G;NG_029213.1:g.4613G>C;NM_005198.4:c.-606G>C 212138863 112714656 YRI.trio.3.2010_1527973_chr22_49368682 3.02e-02 2010.03.31 2010.03.31 2010.07.04 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51021816C>G;NG_029213.1:g.4613G>C;NM_005198.4:c.-606G>C 228744471 112714656 pilot_1_YRI_10554154_chr22_49368682 3.02e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022010C>T;NG_029213.1:g.4419G>A;NM_005198.4:c.-800G>A 341247015 141407919 20100804_snps_12890556_chr22_51022010 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022078C>A;NG_029213.1:g.4351G>T;NM_005198.4:c.-868G>T 244222441 117544523 pilot_1_CHB+JPT_6107518_chr22_49368944 3.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 TSC-CSHL 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 1411718 963980 TSC0269570 2.19e-01 2000.09.07 2003.10.10 2000.10.05 2012.11.28 137 CGAP-GAI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 4321752 963980 251198 2.19e-01 2001.11.28 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 8308556 963980 NT_011526.4_159117 2.19e-01 2003.04.17 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 10999290 963980 chr22.NT_011526.5_216980 2.19e-01 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 12523271 963980 chr22.NT_011526.5_216980 2.19e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 13377125 963980 NT_011526.5_216980 2.19e-01 2003.10.22 2004.05.16 2000.10.05 2012.11.28 137 CGAP-GAI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 16226691 963980 1461149 2.19e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 16920166 963980 CSHL-HuAA-200402.chr22.NT_011526.5_216980 2.19e-01 2004.02.18 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 21854568 963980 WGSA-200403-chr22.chr22.NT_011526.5_216980 2.19e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ABI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 44317576 963980 hCV7541816 2.19e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HGSV 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 83874187 963980 Cor19240_SNV_20070510.chr22_49312261 2.19e-01 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 91957380 963980 JWB-1541246 2.19e-01 2008.03.02 2008.03.02 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 96133344 963980 1103691067482 2.19e-01 2008.03.25 2008.03.25 2000.10.05 2012.11.28 137 BGI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 106234330 963980 BGI_rs963980 2.19e-01 2008.09.14 2009.06.18 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 112734636 963980 CEU.trio.12.15.2008_3830370_chr22_49368983 2.19e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 114374330 963980 NA19240_2008_12_16_3464478_chr22_49368983 2.19e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 117447877 963980 NA18507_000046242_NCBI36.1_chr22_49368983 2.19e-01 2009.01.19 2009.01.19 2000.10.05 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 138373284 963980 ENSSNP11945550 2.19e-01 2009.05.17 2009.05.17 2000.10.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 157312839 963980 GMI_SNP_25364822 2.19e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 168189343 963980 NA07022_36_chr22_49368983 2.19e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 169627440 963980 NA19240_36_chr22_49368983 2.19e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 172096789 963980 NA20431_36_chr22_49368983 2.19e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 204133543 963980 BUSHMAN-chr22-49368982 2.19e-01 2010.03.10 2010.03.10 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 228744472 963980 pilot_1_YRI_10554155_chr22_49368983 2.19e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 238114368 963980 pilot_1_CEU_7718997_chr22_49368983 2.19e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 283678582 963980 GMI_AK_SNP_7999005 2.19e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 1120 NC_000022.10:g.51022117C>A;NG_029213.1:g.4312G>T;NM_005198.4:c.-907G>T 292731095 963980 SNP_2237453_chr22_49368983 2.19e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022173G>A;NG_029213.1:g.4256C>T;NM_005198.4:c.-963C>T 228744473 114371803 pilot_1_YRI_10554156_chr22_49369039 2.20e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022359T>G;NG_029213.1:g.4070A>C;NM_005198.4:c.-1149A>C 341247016 79830034 20100804_snps_12890557_chr22_51022359 1.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 SC 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 139447 131755 Em:U62317_56363 3.76e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 TSC-CSHL 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 2671181 131755 TSC0116513 3.76e-01 2001.01.03 2003.10.10 2000.06.24 2012.11.28 137 WI_SSAHASNP 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 12530833 131755 chr22.NT_011526.5_217382 3.76e-01 2003.07.04 2003.10.10 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 41548488 131755 hCV26229662 3.76e-01 2005.07.17 2005.07.17 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 96133345 131755 1103691067481 3.76e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 112734642 131755 CEU.trio.12.15.2008_3830371_chr22_49369385 3.76e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 157312845 131755 GMI_SNP_64796343 3.76e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 168189356 131755 NA07022_36_chr22_49369385 3.76e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 172096796 131755 NA20431_36_chr22_49369385 3.76e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 228744474 131755 pilot_1_YRI_10554157_chr22_49369385 3.76e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 238114369 131755 pilot_1_CEU_7718998_chr22_49369385 3.76e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 244222442 131755 pilot_1_CHB+JPT_6107519_chr22_49369385 3.76e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 283678583 131755 GMI_AK_SNP_7999006 3.76e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51022519C>T;NG_029213.1:g.3910G>A;NM_005198.4:c.-1309G>A 292731096 131755 SNP_2237454_chr22_49369385 3.76e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 8308557 6010015 NT_011526.4_159521 1.55e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 169627454 6010015 NA19240_36_chr22_49369387 1.55e-01 2009.10.01 2009.10.01 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 204133545 6010015 BUSHMAN-chr22-49369386 1.55e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 238114370 6010015 pilot_1_CEU_7718999_chr22_49369387 1.55e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 244222443 6010015 pilot_1_CHB+JPT_6107520_chr22_49369387 1.55e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51022521T>C;NG_029213.1:g.3908A>G;NM_005198.4:c.-1311A>G 283678584 6010015 GMI_AK_SNP_7999007 1.55e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022569A>G;NG_029213.1:g.3860T>C;NM_005198.4:c.-1359T>C 8308558 6010016 NT_011526.4_159569 1.39e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022569A>G;NG_029213.1:g.3860T>C;NM_005198.4:c.-1359T>C 169627468 6010016 NA19240_36_chr22_49369435 1.39e-01 2009.10.01 2009.10.01 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022569A>G;NG_029213.1:g.3860T>C;NM_005198.4:c.-1359T>C 204133547 6010016 BUSHMAN-chr22-49369434 1.39e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51022569A>G;NG_029213.1:g.3860T>C;NM_005198.4:c.-1359T>C 283678585 6010016 GMI_AK_SNP_7999008 1.39e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022569A>G;NG_029213.1:g.3860T>C;NM_005198.4:c.-1359T>C 341247017 6010016 20100804_snps_12890558_chr22_51022569 1.39e-01 2011.03.22 2011.03.22 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022643A>G;NG_029213.1:g.3786T>C;NM_005198.4:c.-1433T>C 466244371 181294186 20101123_snps_12411601_chr22_51022643 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 3223176 2283674 IMS-JST033260 1.55e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 8308559 2283674 NT_011526.4_159700 1.55e-01 2003.04.17 2003.10.10 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 169627484 2283674 NA19240_36_chr22_49369566 1.55e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 204133549 2283674 BUSHMAN-chr22-49369565 1.55e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 228744475 2283674 pilot_1_YRI_10554158_chr22_49369566 1.55e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 238114371 2283674 pilot_1_CEU_7719000_chr22_49369566 1.55e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 244222444 2283674 pilot_1_CHB+JPT_6107521_chr22_49369566 1.55e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 1120 NC_000022.10:g.51022700G>A;NG_029213.1:g.3729C>T;NM_005198.4:c.-1490C>T 283678586 2283674 GMI_AK_SNP_7999009 1.55e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022757C>G;NG_029213.1:g.3672G>C;NM_005198.4:c.-1547G>C 466244372 185977127 20101123_snps_12411602_chr22_51022757 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 139446 131754 Em:U62317_56100 2000.06.08 2003.10.10 2000.06.24 2012.05.24 137 ABI 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 41529394 131754 hCV32844659 2005.07.17 2005.07.17 2000.06.24 2012.05.24 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51022779_51022782delAAAA;NG_029213.1:g.3647_3650delTTTT;NM_005198.4:c.-1572_-1569delTTTT 96111855 71318826 1103691067477 2008.03.25 2008.03.25 2009.02.13 2011.10.06 137 DEVINE_LAB 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 99342202 131754 INDEL_GP36_2007a_854017_0 2008.05.05 2008.05.05 2000.06.24 2012.05.24 137 DEVINE_LAB 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 99709611 131754 INDEL_GP36_2007a_858244_0 2008.05.06 2008.05.06 2000.06.24 2012.05.24 137 GMI 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 288558966 131754 GMI_NA10851_INDEL_313212 2010.12.22 2010.12.22 2000.06.24 2012.05.24 137 PJP 1120 NC_000022.10:g.51022779delA;NC_000022.10:g.51022779delAinsAAAA;NC_000022.10:g.51022779delAinsAAAAA;NG_029213.1:g.3650delT;NG_029213.1:g.3650delTinsTTTT;NG_029213.1:g.3650delTinsTTTTT;NM_005198.4:c.-1569delT;NM_005198.4:c.-1569delTinsTTTT;NM_005198.4:c.-1569delTinsTTTTT 295083898 131754 DIP_521602_chr22_49369645 2011.01.23 2011.01.23 2000.06.24 2012.05.24 137 PJP 1120 NC_000022.10:g.51022779_51022782delAAAA;NG_029213.1:g.3647_3650delTTTT;NM_005198.4:c.-1572_-1569delTTTT 295083899 71318826 DIP_521603_chr22_49369661 2011.01.23 2011.01.23 2009.02.13 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51022795A>G;NG_029213.1:g.3634T>C;NM_005198.4:c.-1585T>C 8308560 6010018 NT_011526.4_159795 2003.04.17 2003.10.10 2003.04.21 2011.07.08 137 BUSHMAN 1120 NC_000022.10:g.51022795_51022796insG;NG_029213.1:g.3633_3634insC;NM_005198.4:c.-1586_-1585insC 193653233 111773896 BUSHMAN-chr22-49369661-49369661 2010.02.17 2010.02.17 2010.07.04 2011.07.08 137 GMI 1120 NC_000022.10:g.51022799G>A;NG_029213.1:g.3630C>T;NM_005198.4:c.-1589C>T 283678587 201931049 GMI_AK_SNP_7999010 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_SNP 1120 NC_000022.10:g.51022803A>C;NG_029213.1:g.3626T>G;NM_005198.4:c.-1593T>G 8308561 6010019 NT_011526.4_159803 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51022803A>C;NG_029213.1:g.3626T>G;NM_005198.4:c.-1593T>G 283678588 6010019 GMI_AK_SNP_7999011 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022803_51022804insAAAC;NG_029213.1:g.3625_3626insGTTT;NM_005198.4:c.-1594_-1593insGTTT 328333469 150645148 YRI_chr22_49369669_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 SC 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 139445 131753 Em:U62317_56020 2.19e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 TSC-CSHL 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 3014977 131753 TSC1322552 2.19e-01 2001.06.07 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 8025256 131753 NT_011526.4_159862 2.19e-01 2003.04.15 2003.10.10 2000.06.24 2012.11.28 137 BCM_SSAHASNP 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 11005225 131753 chr22.NT_011526.5_217725 2.19e-01 2003.07.01 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 13376920 131753 NT_011526.5_217725 2.19e-01 2003.10.22 2003.10.31 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 81829074 131753 Cor18555_SNV_20070510.chr22_49313006 2.19e-01 2007.12.01 2007.12.01 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 82420737 131753 Cor19240_SNV_20070510.chr22_49313006 2.19e-01 2007.12.02 2007.12.02 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 91957382 131753 JWB-1541247 2.19e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 96133346 131753 1103691067478 2.19e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 ILLUMINA-UK 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 117447879 131753 NA18507_000046243_NCBI36.1_chr22_49369728 2.19e-01 2009.01.19 2009.01.19 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 142795963 131753 ENSSNP9401050 2.19e-01 2009.06.05 2009.10.16 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 157312855 131753 GMI_SNP_24722011 2.19e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 168189369 131753 NA07022_36_chr22_49369728 2.19e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 169627501 131753 NA19240_36_chr22_49369728 2.19e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 172096804 131753 NA20431_36_chr22_49369728 2.19e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 204133551 131753 BUSHMAN-chr22-49369727 2.19e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 228744477 131753 pilot_1_YRI_10554160_chr22_49369728 2.19e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 238114373 131753 pilot_1_CEU_7719002_chr22_49369728 2.19e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 244222446 131753 pilot_1_CHB+JPT_6107523_chr22_49369728 2.19e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 283678589 131753 GMI_AK_SNP_7999012 2.19e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51022862A>G;NG_029213.1:g.3567T>C;NM_005198.4:c.-1652T>C 292731097 131753 SNP_2237455_chr22_49369728 2.19e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51022925C>T;NG_029213.1:g.3504G>A;NM_005198.4:c.-1715G>A 13394805 9628218 NT_011526.5_217788 1.74e-02 2003.10.23 2003.10.31 2003.12.05 2011.09.09 137 SC_SNP 1120 NC_000022.10:g.51022925C>T;NG_029213.1:g.3504G>A;NM_005198.4:c.-1715G>A 18332254 9628218 SC-CHR6_NA17119-200402.chr22.NT_011526.5_217788 1.74e-02 2004.02.20 2004.03.04 2003.12.05 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022925C>T;NG_029213.1:g.3504G>A;NM_005198.4:c.-1715G>A 212138865 9628218 YRI.trio.3.2010_1527974_chr22_49369791 1.74e-02 2010.03.31 2010.03.31 2003.12.05 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022925C>T;NG_029213.1:g.3504G>A;NM_005198.4:c.-1715G>A 228744478 9628218 pilot_1_YRI_10554161_chr22_49369791 1.74e-02 2010.04.22 2010.04.22 2003.12.05 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022930C>T;NG_029213.1:g.3499G>A;NM_005198.4:c.-1720G>A 341247019 145304615 20100804_snps_12890560_chr22_51022930 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51022958T>C;NG_029213.1:g.3471A>G;NM_005198.4:c.-1748A>G 466244373 189778027 20101123_snps_12411603_chr22_51022958 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51022988G>T;NG_029213.1:g.3441C>A;NM_005198.4:c.-1778C>A 466244374 182314113 20101123_snps_12411604_chr22_51022988 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 18320208 12158909 SC-CHR22_NA10470-200402.chr22.NT_011526.5_217855 1.55e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 HGSV 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 82288474 12158909 Cor19240_SNV_20070510.chr22_49313136 1.55e-01 2007.12.02 2007.12.02 2004.02.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 114374339 12158909 NA19240_2008_12_16_3464479_chr22_49369858 1.55e-01 2008.12.18 2008.12.18 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 169627516 12158909 NA19240_36_chr22_49369858 1.55e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 204133552 12158909 BUSHMAN-chr22-49369857 1.55e-01 2010.03.10 2010.03.10 2004.02.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 228744479 12158909 pilot_1_YRI_10554162_chr22_49369858 1.55e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 238114374 12158909 pilot_1_CEU_7719003_chr22_49369858 1.55e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 244222447 12158909 pilot_1_CHB+JPT_6107524_chr22_49369858 1.55e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 1120 NC_000022.10:g.51022992C>T;NG_029213.1:g.3437G>A;NM_005198.4:c.-1782G>A 283678590 12158909 GMI_AK_SNP_7999013 1.55e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 BCM_SSAHASNP 1120 NC_000022.10:g.51023019G>T;NG_029213.1:g.3410C>A;NM_005198.4:c.-1809C>A 10998715 7286440 chr22.NT_011526.5_217882 2003.07.01 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 1120 NC_000022.10:g.51023070G>A;NG_029213.1:g.3359C>T;NM_005198.4:c.-1860C>T 466244375 187682052 20101123_snps_12411605_chr22_51023070 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51023118A>G;NG_029213.1:g.3311T>C;NM_005198.4:c.-1908T>C 341247020 140125047 20100804_snps_12890561_chr22_51023118 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 8308457 6009931 NT_011526.4_160152 1.08e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 CSHL-HAPMAP 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 17716795 6009931 CSHL-HuCC-200402.chr22.NT_011526.5_218015 1.08e-01 2004.02.19 2004.10.30 2003.04.21 2012.11.28 137 ABI 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 44309121 6009931 hCV30186393 1.08e-01 2005.07.18 2005.07.18 2003.04.21 2012.11.28 137 AFFY 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 74826607 6009931 SNP_M-582584 1.08e-01 2007.08.09 2007.08.09 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 204133553 6009931 BUSHMAN-chr22-49370017 1.08e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 228744480 6009931 pilot_1_YRI_10554163_chr22_49370018 1.08e-01 2010.04.22 2010.04.22 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 238114375 6009931 pilot_1_CEU_7719004_chr22_49370018 1.08e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 244222448 6009931 pilot_1_CHB+JPT_6107525_chr22_49370018 1.08e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51023152T>G;NG_029213.1:g.3277A>C;NM_005198.4:c.-1942A>C 283678591 6009931 GMI_AK_SNP_7999014 1.08e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023200T>C;NG_029213.1:g.3229A>G;NM_005198.4:c.-1990A>G 466244376 191048111 20101123_snps_12411606_chr22_51023200 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51023251T>A;NG_029213.1:g.3178A>T;NM_005198.4:c.-2041A>T 341247021 143951854 20100804_snps_12890562_chr22_51023251 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51023308G>C;NG_029213.1:g.3121C>G;NM_005198.4:c.-2098C>G 466244377 183494986 20101123_snps_12411607_chr22_51023308 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 1120 NC_000022.10:g.51023320C>T;NG_029213.1:g.3109G>A;NM_005198.4:c.-2110G>A 341247022 146872199 20100804_snps_12890563_chr22_51023320 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 8308458 6009932 NT_011526.4_160340 1.55e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 BCM_SSAHASNP 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 10995449 6009932 chr22.NT_011526.5_218203 1.55e-01 2003.07.01 2006.10.25 2003.04.21 2012.11.28 137 CSHL-HAPMAP 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 17714536 6009932 CSHL-HuCC-200402.chr22.NT_011526.5_218203 1.55e-01 2004.02.19 2004.03.04 2003.04.21 2012.11.28 137 ABI 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 41517214 6009932 hCV29536741 1.55e-01 2005.07.17 2005.07.17 2003.04.21 2012.11.28 137 HGSV 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 83598882 6009932 Cor19240_SNV_20070510.chr22_49313484 1.55e-01 2007.12.05 2007.12.05 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 114374347 6009932 NA19240_2008_12_16_3464480_chr22_49370206 1.55e-01 2008.12.18 2008.12.18 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 169627532 6009932 NA19240_36_chr22_49370206 1.55e-01 2009.10.01 2009.10.01 2003.04.21 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 204133555 6009932 BUSHMAN-chr22-49370205 1.55e-01 2010.03.10 2010.03.10 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 228744481 6009932 pilot_1_YRI_10554164_chr22_49370206 1.55e-01 2010.04.22 2010.04.22 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 238114376 6009932 pilot_1_CEU_7719005_chr22_49370206 1.55e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 244222449 6009932 pilot_1_CHB+JPT_6107526_chr22_49370206 1.55e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 ILLUMINA 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 244304090 6009932 CVDSNP55v1_A_rs6009932 1.55e-01 2010.06.10 2010.06.10 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 283678592 6009932 GMI_AK_SNP_7999015 1.55e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 1120 NC_000022.10:g.51023340A>G;NG_029213.1:g.3089T>C;NM_005198.4:c.-2130T>C 292731098 6009932 SNP_2237456_chr22_49370206 1.55e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023379G>T;NG_029213.1:g.3050C>A;NM_005198.4:c.-2169C>A 341247023 140816349 20100804_snps_12890564_chr22_51023379 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51023380C>A;NG_029213.1:g.3049G>T;NM_005198.4:c.-2170G>T 341247024 143011302 20100804_snps_12890565_chr22_51023380 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 1120 NC_000022.10:g.51023381G>A;NG_029213.1:g.3048C>T;NM_005198.4:c.-2171C>T 466244378 188385897 20101123_snps_12411608_chr22_51023381 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 8025390 5770922 NT_011526.4_160408 1.07e-01 2003.04.15 2003.10.10 2003.04.21 2012.11.28 137 HGSV 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 78736298 5770922 Cor12878_SNV_20070510.chr22_49313552 1.07e-01 2007.10.20 2007.10.20 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 112734650 5770922 CEU.trio.12.15.2008_3830373_chr22_49370274 1.07e-01 2008.12.18 2008.12.18 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 238114377 5770922 pilot_1_CEU_7719006_chr22_49370274 1.07e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 244222450 5770922 pilot_1_CHB+JPT_6107527_chr22_49370274 1.07e-01 2010.05.01 2010.05.01 2003.04.21 2012.11.28 137 GMI 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 283678593 5770922 GMI_AK_SNP_7999016 1.07e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 1120 NC_000022.10:g.51023408A>G;NG_029213.1:g.3021T>C;NM_005198.4:c.-2198T>C 292731099 5770922 SNP_2237457_chr22_49370274 1.07e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023410C>T;NG_029213.1:g.3019G>A;NM_005198.4:c.-2200G>A 341247025 151170117 20100804_snps_12890566_chr22_51023410 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 139444 131752 Em:U62317_55458 4.72e-01 2000.06.08 2003.10.10 2000.06.24 2012.11.28 137 SC_SNP 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 13376921 131752 NT_011526.5_218287 4.72e-01 2003.10.22 2004.05.16 2000.06.24 2012.11.28 137 ABI 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 41537845 131752 hCV14526 4.72e-01 2005.07.17 2005.07.17 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 80119271 131752 Cor18507_SNV_20070510.chr22_49313568 4.72e-01 2007.11.24 2007.11.24 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 83329043 131752 Cor18555_SNV_20070510.chr22_49313568 4.72e-01 2007.12.04 2007.12.04 2000.06.24 2012.11.28 137 HGSV 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 83637544 131752 Cor18956_SNV_20070510.chr22_49313568 4.72e-01 2007.12.05 2007.12.05 2000.06.24 2012.11.28 137 BCMHGSC_JDW 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 91957386 131752 JWB-1541248 4.72e-01 2008.03.02 2008.03.02 2000.06.24 2012.11.28 137 HUMANGENOME_JCVI 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 96133347 131752 1103691067474 4.72e-01 2008.03.25 2008.03.25 2000.06.24 2012.11.28 137 BGI 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 106234331 131752 BGI_rs131752 4.72e-01 2008.09.14 2009.06.18 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 112734654 131752 CEU.trio.12.15.2008_3830374_chr22_49370290 4.72e-01 2008.12.18 2008.12.18 2000.06.24 2012.11.28 137 ILLUMINA-UK 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 117447881 131752 NA18507_000046244_NCBI36.1_chr22_49370290 4.72e-01 2009.01.19 2009.01.19 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 138373285 131752 ENSSNP11945551 4.72e-01 2009.05.17 2009.05.17 2000.06.24 2012.11.28 137 ENSEMBL 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 139758501 131752 ENSSNP7852640 4.72e-01 2009.05.19 2009.10.16 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 157312861 131752 GMI_SNP_24711688 4.72e-01 2009.06.25 2009.06.25 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 168189377 131752 NA07022_36_chr22_49370290 4.72e-01 2009.09.30 2009.09.30 2000.06.24 2012.11.28 137 COMPLETE_GENOMICS 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 172096808 131752 NA20431_36_chr22_49370290 4.72e-01 2009.10.01 2009.10.01 2000.06.24 2012.11.28 137 BUSHMAN 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 204133557 131752 BUSHMAN-chr22-49370289 4.72e-01 2010.03.10 2010.03.10 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 212138867 131752 YRI.trio.3.2010_1527975_chr22_49370290 4.72e-01 2010.03.31 2010.03.31 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 228744482 131752 pilot_1_YRI_10554165_chr22_49370290 4.72e-01 2010.04.22 2010.04.22 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 238114378 131752 pilot_1_CEU_7719007_chr22_49370290 4.72e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 1000GENOMES 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 244222451 131752 pilot_1_CHB+JPT_6107528_chr22_49370290 4.72e-01 2010.05.01 2010.05.01 2000.06.24 2012.11.28 137 GMI 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 283678594 131752 GMI_AK_SNP_7999017 4.72e-01 2010.12.16 2010.12.16 2000.06.24 2012.11.28 137 PJP 1120 NC_000022.10:g.51023424T>C;NG_029213.1:g.3005A>G;NM_005198.4:c.-2214A>G 292731100 131752 SNP_2237458_chr22_49370290 4.72e-01 2011.01.21 2011.01.21 2000.06.24 2012.11.28 137 # Report date: 2013.2.9, Gene: CHKB (1120), ss count: 629, rs count: 155.