# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 6261 NC_000019.9:g.38922476G>C;NG_008866.1:g.3137G>C;NM_000540.2:c.-1994G>C;NM_001042723.1:c.-1994G>C 228135486 76124585 pilot_1_YRI_9945169_chr19_43614316 1.17e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38922476G>C;NG_008866.1:g.3137G>C;NM_000540.2:c.-1994G>C;NM_001042723.1:c.-1994G>C 237674034 76124585 pilot_1_CEU_7278663_chr19_43614316 1.17e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38922476G>C;NG_008866.1:g.3137G>C;NM_000540.2:c.-1994G>C;NM_001042723.1:c.-1994G>C 243880849 76124585 pilot_1_CHB+JPT_5765926_chr19_43614316 1.17e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38922476G>C;NG_008866.1:g.3137G>C;NM_000540.2:c.-1994G>C;NM_001042723.1:c.-1994G>C 283205796 76124585 GMI_AK_SNP_7526217 1.17e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38922724T>C;NG_008866.1:g.3385T>C;NM_000540.2:c.-1746T>C;NM_001042723.1:c.-1746T>C 283205797 141764162 GMI_AK_SNP_7526218 9.60e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38922724T>C;NG_008866.1:g.3385T>C;NM_000540.2:c.-1746T>C;NM_001042723.1:c.-1746T>C 340454224 141764162 20100804_snps_12097765_chr19_38922724 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38922727A>C;NG_008866.1:g.3388A>C;NM_000540.2:c.-1743A>C;NM_001042723.1:c.-1743A>C 465586539 191090628 20101123_snps_11753769_chr19_38922727 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38922733G>C;NG_008866.1:g.3394G>C;NM_000540.2:c.-1737G>C;NM_001042723.1:c.-1737G>C 340454225 147076935 20100804_snps_12097766_chr19_38922733 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38922788A>T;NG_008866.1:g.3449A>T;NM_000540.2:c.-1682A>T;NM_001042723.1:c.-1682A>T 137670154 79249603 ENSSNP11444255 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38922796T>A;NG_008866.1:g.3457T>A;NM_000540.2:c.-1674T>A;NM_001042723.1:c.-1674T>A 35235478 28483482 TA-079.chr19_43614636 variation has been flagged as failed by submitter 2005.03.11 2005.05.24 2011.07.08 137 HGSV 6261 NC_000019.9:g.38922796delT;NG_008866.1:g.3457delT;NM_000540.2:c.-1674delT;NM_001042723.1:c.-1674delT 81561732 58678809 Cor19129_DIV_20070510.chr19_43614651-43614653_1 2007.11.30 2007.11.30 2007.12.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38922903T>C;NG_008866.1:g.3564T>C;NM_000540.2:c.-1567T>C;NM_001042723.1:c.-1567T>C 340454226 148179598 20100804_snps_12097767_chr19_38922903 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923014C>T;NG_008866.1:g.3675C>T;NM_000540.2:c.-1456C>T;NM_001042723.1:c.-1456C>T 465586540 183643051 20101123_snps_11753770_chr19_38923014 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38923044C>T;NG_008866.1:g.3705C>T;NM_000540.2:c.-1426C>T;NM_001042723.1:c.-1426C>T 340454227 141093071 20100804_snps_12097768_chr19_38923044 2.79e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923121G>A;NG_008866.1:g.3782G>A;NM_000540.2:c.-1349G>A;NM_001042723.1:c.-1349G>A 211962531 114908456 YRI.trio.3.2010_1440204_chr19_43614961 3.57e-02 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923121G>A;NG_008866.1:g.3782G>A;NM_000540.2:c.-1349G>A;NM_001042723.1:c.-1349G>A 340454228 114908456 20100804_snps_12097769_chr19_38923121 3.57e-02 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.38923166G>A;NG_008866.1:g.3827G>A;NM_000540.2:c.-1304G>A;NM_001042723.1:c.-1304G>A 77755110 56108534 Cor12156_SNV_20070510.chr19_43615006 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923168G>A;NG_008866.1:g.3829G>A;NM_000540.2:c.-1302G>A;NM_001042723.1:c.-1302G>A 77812808 55775639 Cor12156_SNV_20070510.chr19_43615008 2007.10.14 2007.10.14 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923179G>A;NG_008866.1:g.3840G>A;NM_000540.2:c.-1291G>A;NM_001042723.1:c.-1291G>A 77664612 55704630 Cor12156_SNV_20070510.chr19_43615019 2007.10.14 2007.10.14 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923181T>C;NG_008866.1:g.3842T>C;NM_000540.2:c.-1289T>C;NM_001042723.1:c.-1289T>C 77361464 55803603 Cor12156_SNV_20070510.chr19_43615021 2007.10.10 2007.10.12 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923181T>C;NG_008866.1:g.3842T>C;NM_000540.2:c.-1289T>C;NM_001042723.1:c.-1289T>C 78252967 55803603 Cor12878_SNV_20070510.chr19_43615021 2007.10.18 2007.10.18 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923187G>A;NG_008866.1:g.3848G>A;NM_000540.2:c.-1283G>A;NM_001042723.1:c.-1283G>A 77536186 56344419 Cor12156_SNV_20070510.chr19_43615027 2007.10.13 2007.10.13 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923187G>A;NG_008866.1:g.3848G>A;NM_000540.2:c.-1283G>A;NM_001042723.1:c.-1283G>A 78393012 56344419 Cor12878_SNV_20070510.chr19_43615027 2007.10.19 2007.10.19 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923190C>T;NG_008866.1:g.3851C>T;NM_000540.2:c.-1280C>T;NM_001042723.1:c.-1280C>T 77738593 55960116 Cor12156_SNV_20070510.chr19_43615030 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923190C>T;NG_008866.1:g.3851C>T;NM_000540.2:c.-1280C>T;NM_001042723.1:c.-1280C>T 78667572 55960116 Cor12878_SNV_20070510.chr19_43615030 2007.10.20 2007.10.20 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923190C>T;NG_008866.1:g.3851C>T;NM_000540.2:c.-1280C>T;NM_001042723.1:c.-1280C>T 86038999 55960116 Cor18517_SNV_20070510.chr19_43615030 2007.12.11 2007.12.11 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923200C>T;NG_008866.1:g.3861C>T;NM_000540.2:c.-1270C>T;NM_001042723.1:c.-1270C>T 77749190 56125286 Cor12156_SNV_20070510.chr19_43615040 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923200C>T;NG_008866.1:g.3861C>T;NM_000540.2:c.-1270C>T;NM_001042723.1:c.-1270C>T 86058914 56125286 Cor18517_SNV_20070510.chr19_43615040 2007.12.11 2007.12.11 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923204C>T;NG_008866.1:g.3865C>T;NM_000540.2:c.-1266C>T;NM_001042723.1:c.-1266C>T 77762730 55933805 Cor12156_SNV_20070510.chr19_43615044 2007.10.14 2007.10.14 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923204C>T;NG_008866.1:g.3865C>T;NM_000540.2:c.-1266C>T;NM_001042723.1:c.-1266C>T 78708783 55933805 Cor12878_SNV_20070510.chr19_43615044 2007.10.20 2007.10.20 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923204C>T;NG_008866.1:g.3865C>T;NM_000540.2:c.-1266C>T;NM_001042723.1:c.-1266C>T 86084744 55933805 Cor18517_SNV_20070510.chr19_43615044 2007.12.11 2007.12.11 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923218C>A;NG_008866.1:g.3879C>A;NM_000540.2:c.-1252C>A;NM_001042723.1:c.-1252C>A 77576924 55839112 Cor12156_SNV_20070510.chr19_43615058 2007.10.13 2007.10.13 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923230C>T;NG_008866.1:g.3891C>T;NM_000540.2:c.-1240C>T;NM_001042723.1:c.-1240C>T 77390779 55884153 Cor12156_SNV_20070510.chr19_43615070 2007.10.10 2007.10.12 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923230C>T;NG_008866.1:g.3891C>T;NM_000540.2:c.-1240C>T;NM_001042723.1:c.-1240C>T 78277769 55884153 Cor12878_SNV_20070510.chr19_43615070 2007.10.18 2007.10.18 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923236T>C;NG_008866.1:g.3897T>C;NM_000540.2:c.-1234T>C;NM_001042723.1:c.-1234T>C 77148573 56391058 Cor12156_SNV_20070510.chr19_43615076 2007.10.09 2007.10.11 2007.12.08 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923236T>C;NG_008866.1:g.3897T>C;NM_000540.2:c.-1234T>C;NM_001042723.1:c.-1234T>C 78051810 56391058 Cor12878_SNV_20070510.chr19_43615076 2007.10.17 2007.10.17 2007.12.08 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923240A>G;NG_008866.1:g.3901A>G;NM_000540.2:c.-1230A>G;NM_001042723.1:c.-1230A>G 77267586 56041806 Cor12156_SNV_20070510.chr19_43615080 2007.10.10 2007.10.12 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923240A>G;NG_008866.1:g.3901A>G;NM_000540.2:c.-1230A>G;NM_001042723.1:c.-1230A>G 78153630 56041806 Cor12878_SNV_20070510.chr19_43615080 2007.10.18 2007.10.18 2007.12.07 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923285C>T;NG_008866.1:g.3946C>T;NM_000540.2:c.-1185C>T;NM_001042723.1:c.-1185C>T 77479154 56161919 Cor12156_SNV_20070510.chr19_43615125 2007.10.13 2007.10.13 2007.12.07 2011.07.08 137 ABI 6261 NC_000019.9:g.38923305_38923306insT;NG_008866.1:g.3966_3967insT;NM_000540.2:c.-1165_-1164insT;NM_001042723.1:c.-1165_-1164insT 40967193 34959401 hCV32823700 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 6261 NC_000019.9:g.38923393delA;NC_000019.9:g.38923393delAinsAAA;NG_008866.1:g.4054delA;NG_008866.1:g.4054delAinsAAA;NM_000540.2:c.-1077delA;NM_000540.2:c.-1077delAinsAAA;NM_001042723.1:c.-1077delA;NM_001042723.1:c.-1077delAinsAAA 40965908 34480860 hCV32823702 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38923394_38923397delAAAT;NG_008866.1:g.4055_4058delAAAT;NM_000540.2:c.-1076_-1073delAAAT;NM_001042723.1:c.-1076_-1073delAAAT 327903730 140564358 JPTCHB_chr19_43615233_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38923397delT;NG_008866.1:g.4058delT;NM_000540.2:c.-1073delT;NM_001042723.1:c.-1073delT 41041959 35390800 hCV32823703 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.38923401T>A;NG_008866.1:g.4062T>A;NM_000540.2:c.-1069T>A;NM_001042723.1:c.-1069T>A 77827543 56110324 Cor12156_SNV_20070510.chr19_43615241 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38923415_38923417delAAT;NG_008866.1:g.4076_4078delAAT;NM_000540.2:c.-1055_-1053delAAT;NM_001042723.1:c.-1055_-1053delAAT 328276213 149602284 YRI_chr19_43615254_indel 3.11e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923415_38923417delAAT;NG_008866.1:g.4076_4078delAAT;NM_000540.2:c.-1055_-1053delAAT;NM_001042723.1:c.-1055_-1053delAAT 499576179 149602284 20110316_indels_chr19_38923414_38923416 3.11e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38923414_38923415insA;NG_008866.1:g.4075_4076insA;NM_000540.2:c.-1056_-1055insA;NM_001042723.1:c.-1056_-1055insA 193510320 112467713 BUSHMAN-chr19-43615257-43615257 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923450C>T;NG_008866.1:g.4111C>T;NM_000540.2:c.-1020C>T;NM_001042723.1:c.-1020C>T 340454229 138701947 20100804_snps_12097770_chr19_38923450 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923460_38923461delCA;NG_008866.1:g.4121_4122delCA;NM_000540.2:c.-1010_-1009delCA;NM_001042723.1:c.-1010_-1009delCA 499576183 200531678 20110316_indels_chr19_38923459_38923460 9.60e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38923461A>T;NG_008866.1:g.4122A>T;NM_000540.2:c.-1009A>T;NM_001042723.1:c.-1009A>T 155887097 78369022 GMI_SNP_240950699 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38923461A>T;NG_008866.1:g.4122A>T;NM_000540.2:c.-1009A>T;NM_001042723.1:c.-1009A>T 283205798 78369022 GMI_AK_SNP_7526219 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38923462C>G;NG_008866.1:g.4123C>G;NM_000540.2:c.-1008C>G;NM_001042723.1:c.-1008C>G 155887104 76529006 GMI_SNP_241185796 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38923462C>G;NG_008866.1:g.4123C>G;NM_000540.2:c.-1008C>G;NM_001042723.1:c.-1008C>G 283205799 76529006 GMI_AK_SNP_7526220 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923463_38923464insG;NG_008866.1:g.4124_4125insG;NM_000540.2:c.-1007_-1006insG;NM_001042723.1:c.-1007_-1006insG 499576187 201668893 20110316_indels_chr19_38923463_38923464 9.60e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923478C>T;NG_008866.1:g.4139C>T;NM_000540.2:c.-992C>T;NM_001042723.1:c.-992C>T 465586541 189626134 20101123_snps_11753771_chr19_38923478 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38923502A>T;NG_008866.1:g.4163A>T;NM_000540.2:c.-968A>T;NM_001042723.1:c.-968A>T 465586542 182103771 20101123_snps_11753772_chr19_38923502 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 12462149 8107027 chr19.NT_011109.15_11191825 7.80e-03 2003.07.04 2006.10.25 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 16804080 8107027 CSHL-HuAA-200402.chr19.NT_011109.15_11191825 7.80e-03 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 17623532 8107027 CSHL-HuCC-200402.chr19.NT_011109.15_11191825 7.80e-03 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 21507121 8107027 WGSA-200403-chr19.chr19.NT_011109.15_11191825 7.80e-03 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 67872620 8107027 HumanHap550v1.1_rs8107027 7.80e-03 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 68017036 8107027 HumanHap650Yv1.0_rs8107027 7.80e-03 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 68295783 8107027 HumanHap250Sv1.0_rs8107027 7.80e-03 2006.12.06 2006.12.07 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 69228152 8107027 PGP08237962 7.80e-03 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 70970939 8107027 HumanHap550v3.0__rs8107027 7.80e-03 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 71581665 8107027 HumanHap650Yv3.0_rs8107027 7.80e-03 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 75556442 8107027 ILMN_Human_1M_rs8107027 7.80e-03 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 84787801 8107027 KHS810002 7.80e-03 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 90969753 8107027 JWB-1168130 7.80e-03 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 96266927 8107027 1103691141722 7.80e-03 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 106055007 8107027 BGI_rs8107027 7.80e-03 2008.09.13 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 111364962 8107027 CEU.trio.12.15.2008_3616558_chr19_43615447 7.80e-03 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 115119712 8107027 NA19240_2008_12_16_3257505_chr19_43615447 7.80e-03 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 117702441 8107027 NA18507_000043814_NCBI36.1_chr19_43615447 7.80e-03 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 136267680 8107027 ENSSNP1527828 7.80e-03 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 137670157 8107027 ENSSNP11444256 7.80e-03 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 154469614 8107027 Human610_Quadv1_B_rs8107027-121_T_F_1502281685 7.80e-03 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 155887114 8107027 GMI_SNP_40609255 7.80e-03 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 159644125 8107027 Human660W-Quad_v1_A_rs8107027-121_T_F_1502281685 7.80e-03 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 168182292 8107027 NA07022_36_chr19_43615447 7.80e-03 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 169705505 8107027 NA19240_36_chr19_43615447 7.80e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 171753890 8107027 NA20431_36_chr19_43615447 7.80e-03 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 174721748 8107027 Human1M-Duov3_B_rs8107027-121_T_F_1502281685 7.80e-03 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 203750762 8107027 BUSHMAN-chr19-43615446 7.80e-03 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 208371074 8107027 BCM_CMT_1011-3081337 7.80e-03 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 228135487 8107027 pilot_1_YRI_9945170_chr19_43615447 7.80e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 237674036 8107027 pilot_1_CEU_7278665_chr19_43615447 7.80e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 243880850 8107027 pilot_1_CHB+JPT_5765927_chr19_43615447 7.80e-03 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 255667983 8107027 SNP49542_19_43615447 7.80e-03 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 283205800 8107027 GMI_AK_SNP_7526221 7.80e-03 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38923607A>G;NG_008866.1:g.4268A>G;NM_000540.2:c.-863A>G;NM_001042723.1:c.-863A>G 292248427 8107027 SNP_1754785_chr19_43615447 7.80e-03 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923669C>T;NG_008866.1:g.4330C>T;NM_000540.2:c.-801C>T;NM_001042723.1:c.-801C>T 483825847 201399053 HumanOmni2.5-4v1_B_SNP19-43615509-0_B_F_1644458791 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38923669C>T;NG_008866.1:g.4330C>T;NM_000540.2:c.-801C>T;NM_001042723.1:c.-801C>T 484303218 201399053 HumanOmni2.5-4v1_D_kgp9598587-0_B_F_1816363429 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38923804G>C;NG_008866.1:g.4465G>C;NM_000540.2:c.-666G>C;NM_001042723.1:c.-666G>C 340454230 141920515 20100804_snps_12097771_chr19_38923804 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923886C>T;NG_008866.1:g.4547C>T;NM_000540.2:c.-584C>T;NM_001042723.1:c.-584C>T 340454231 146335382 20100804_snps_12097772_chr19_38923886 3.62e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923908G>T;NG_008866.1:g.4569G>T;NM_000540.2:c.-562G>T;NM_001042723.1:c.-562G>T 465586543 185809426 20101123_snps_11753773_chr19_38923908 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38923922G>A;NG_008866.1:g.4583G>A;NM_000540.2:c.-548G>A;NM_001042723.1:c.-548G>A 340454232 138270520 20100804_snps_12097773_chr19_38923922 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38923925G>A;NG_008866.1:g.4586G>A;NM_000540.2:c.-545G>A;NM_001042723.1:c.-545G>A 465586544 189936786 20101123_snps_11753774_chr19_38923925 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38924014A>G;NG_008866.1:g.4675A>G;NM_000540.2:c.-456A>G;NM_001042723.1:c.-456A>G 465586545 181650507 20101123_snps_11753775_chr19_38924014 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38924039C>A;NG_008866.1:g.4700C>A;NM_000540.2:c.-431C>A;NM_001042723.1:c.-431C>A 228135489 76751392 pilot_1_YRI_9945172_chr19_43615879 1.05e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38924068C>T;NG_008866.1:g.4729C>T;NM_000540.2:c.-402C>T;NM_001042723.1:c.-402C>T 340454233 142610932 20100804_snps_12097774_chr19_38924068 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38924088C>G;NG_008866.1:g.4749C>G;NM_000540.2:c.-382C>G;NM_001042723.1:c.-382C>G 21532297 12978942 WGSA-200403-chr19.chr19.NT_011109.15_11192306 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924088C>G;NG_008866.1:g.4749C>G;NM_000540.2:c.-382C>G;NM_001042723.1:c.-382C>G 160310540 12978942 HumanOmni1-Quad_v1-0_B_rs12978942-128_T_F_1577124620 2009.08.06 2009.10.02 2004.04.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924088C>G;NG_008866.1:g.4749C>G;NM_000540.2:c.-382C>G;NM_001042723.1:c.-382C>G 480458842 12978942 HumanOmni1-Quad_v1-0_C_rs12978942-131_T_F_1863343779 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924127G>A;NG_008866.1:g.4788G>A;NM_000540.2:c.-343G>A;NM_001042723.1:c.-343G>A 465586546 185595466 20101123_snps_11753776_chr19_38924127 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38924156A>G;NG_008866.1:g.4817A>G;NM_000540.2:c.-314A>G;NM_001042723.1:c.-314A>G 228135490 114672599 pilot_1_YRI_9945173_chr19_43615996 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38924172A>T;NG_008866.1:g.4833A>T;NM_000540.2:c.-298A>T;NM_001042723.1:c.-298A>T 10938252 7256843 chr19.NT_011109.15_11192390 1.42e-02 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38924172A>T;NG_008866.1:g.4833A>T;NM_000540.2:c.-298A>T;NM_001042723.1:c.-298A>T 82790977 7256843 Cor19240_SNV_20070510.chr19_43616012 1.42e-02 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924172A>T;NG_008866.1:g.4833A>T;NM_000540.2:c.-298A>T;NM_001042723.1:c.-298A>T 115119720 7256843 NA19240_2008_12_16_3257506_chr19_43616012 1.42e-02 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38924172A>T;NG_008866.1:g.4833A>T;NM_000540.2:c.-298A>T;NM_001042723.1:c.-298A>T 169705521 7256843 NA19240_36_chr19_43616012 1.42e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924172A>T;NG_008866.1:g.4833A>T;NM_000540.2:c.-298A>T;NM_001042723.1:c.-298A>T 340454234 7256843 20100804_snps_12097775_chr19_38924172 1.42e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 6287746 4632259 NT_011233.10_1079358 3.66e-02 unknown untested 2003.01.13 2006.10.25 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 75159595 4632259 ILMN_Human_1M_rs4632259 3.66e-02 unknown untested 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 119481658 4632259 KHS1643905 3.66e-02 germline untested 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 160692448 4632259 HumanOmni1-Quad_v1-0_B_rs4632259-128_B_F_1514142297 3.66e-02 germline untested 2009.08.06 2009.10.04 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 173764407 4632259 Human1M-Duov3_B_rs4632259-128_B_F_1514142297 3.66e-02 germline untested 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 203750763 4632259 BUSHMAN-chr19-43616201 3.66e-02 germline untested 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 228135491 4632259 pilot_1_YRI_9945174_chr19_43616202 3.66e-02 unknown untested 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 410934494 4632259 Cardio-Metabo_Chip_11395247_A_rs4632259 3.66e-02 unknown untested 2011.06.07 2011.06.07 2003.02.20 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.-108T>C NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 475871408 4632259 RYR1_00039 3.66e-02 germline untested 2011.11.25 2011.11.25 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 480984545 4632259 HumanOmni2.5-4v1_B_rs4632259-128_B_F_1773492597 3.66e-02 germline untested 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 481005094 4632259 HumanOmniExpress-12v1_C_rs4632259-131_B_F_1857633970 3.66e-02 germline untested 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 481983947 4632259 HumanOmni1-Quad_v1-0_C_rs4632259-131_B_F_1865353719 3.66e-02 germline untested 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 482320182 4632259 HumanOmni2.5-4v1_D_kgp21352690-0_B_F_1844057682 3.66e-02 unknown untested 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 483825849 4632259 HumanOmni2.5-4v1_B_SNP19-43616202-0_B_F_1644450738 3.66e-02 germline untested 2012.02.03 2012.02.03 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924362T>C;NG_008866.1:g.5023T>C;NM_000540.2:c.-108T>C;NM_001042723.1:c.-108T>C 485287200 4632259 HumanOmni2.5-4v1_D_rs4632259-131_B_F_1857633970 3.66e-02 germline untested 2012.02.04 2012.02.04 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924368C>T;NG_008866.1:g.5029C>T;NM_000540.2:c.-102C>T;NM_001042723.1:c.-102C>T 465586547 190259953 20101123_snps_11753777_chr19_38924368 9.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 LUMC-LOVD 6261 NM_000540.2:c.35_37delinsCG NC_000019.9:g.38924504_38924506delTCCinsCG;NG_008866.1:g.5165_5167delTCCinsCG;NM_000540.2:c.35_37delTCCinsCG;NM_001042723.1:c.35_37delTCCinsCG;NP_000531.2:p.Phe12_Leu13delinsSerCysfs;NP_001036188.1:p.Phe12_Leu13delinsSerCysfs 475871409 193922743 RYR1_00323 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 POPS 6261 NC_000019.9:g.38924507T>G;NG_008866.1:g.5168T>G;NM_000540.2:c.38T>G;NM_001042723.1:c.38T>G;NP_000531.2:p.Leu13Arg;NP_001036188.1:p.Leu13Arg 182258901 193922744 MHY1 germline untested 2009.12.18 2009.12.18 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.38T>G NC_000019.9:g.38924507T>G;NG_008866.1:g.5168T>G;NM_000540.2:c.38T>G;NM_001042723.1:c.38T>G;NP_000531.2:p.Leu13Arg;NP_001036188.1:p.Leu13Arg 475871410 193922744 RYR1_00134 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924509C>T;NG_008866.1:g.5170C>T;NM_000540.2:c.40C>T;NM_001042723.1:c.40C>T;NP_000531.2:p.Arg14Trp;NP_001036188.1:p.Arg14Trp 489164308 200665559 20110521_exome_255549_chr19_38924509 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924514G>A;NG_008866.1:g.5175G>A;NM_000540.2:c.45G>A;NM_001042723.1:c.45G>A;NP_000531.2:p.Thr15=;NP_001036188.1:p.Thr15= 489164310 200117623 20110521_exome_255550_chr19_38924514 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924537C>G;NG_008866.1:g.5198C>G;NM_000540.2:c.45+23C>G;NM_001042723.1:c.45+23C>G 489164312 201846538 20110521_exome_255551_chr19_38924537 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924546C>A;NG_008866.1:g.5207C>A;NM_000540.2:c.45+32C>A;NM_001042723.1:c.45+32C>A 340454236 142207522 20100804_snps_12097777_chr19_38924546 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924546C>A;NG_008866.1:g.5207C>A;NM_000540.2:c.45+32C>A;NM_001042723.1:c.45+32C>A 491157894 142207522 20110521_exome_665692_chr19_38924546 4.60e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38924635A>G;NG_008866.1:g.5296A>G;NM_000540.2:c.45+121A>G;NM_001042723.1:c.45+121A>G 203750764 79912670 BUSHMAN-chr19-43616474 3.66e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924635A>G;NG_008866.1:g.5296A>G;NM_000540.2:c.45+121A>G;NM_001042723.1:c.45+121A>G 228135492 79912670 pilot_1_YRI_9945175_chr19_43616475 3.66e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924635A>G;NG_008866.1:g.5296A>G;NM_000540.2:c.45+121A>G;NM_001042723.1:c.45+121A>G 482330109 79912670 HumanOmni2.5-4v1_D_kgp21408849-0_B_R_1844169991 3.66e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924635A>G;NG_008866.1:g.5296A>G;NM_000540.2:c.45+121A>G;NM_001042723.1:c.45+121A>G 483825852 79912670 HumanOmni2.5-4v1_B_SNP19-43616475-0_B_R_1637759636 3.66e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924708_38924709insG;NG_008866.1:g.5369_5370insG;NM_000540.2:c.45+194_45+195insG;NM_001042723.1:c.45+194_45+195insG 499576191 199896464 20110316_indels_chr19_38924708_38924709 7.80e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 1356021 919781 TSC0233375 1.83e-01 germline untested 2000.09.06 2004.05.16 2000.10.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 6109127 919781 NT_011233.10_1079810 1.83e-01 germline untested 2003.01.12 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 10919729 919781 chr19.NT_011109.15_11193032 1.83e-01 unknown untested 2003.06.30 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 12451211 919781 chr19.NT_011109.15_11193032 1.83e-01 germline untested 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 19402743 919781 CSHL-HuDD-200402.chr19.NT_011109.15_11193032 1.83e-01 germline untested 2004.02.21 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 21513553 919781 WGSA-200403-chr19.chr19.NT_011109.15_11193032 1.83e-01 germline untested 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 65788300 919781 Human1-rs919781 1.83e-01 unknown untested 2006.10.10 2006.10.10 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 66694502 919781 HumanHap300v1.1_rs919781 1.83e-01 germline untested 2006.11.09 2006.11.09 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 67895084 919781 HumanHap550v1.1_rs919781 1.83e-01 germline untested 2006.11.14 2006.11.14 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 68029861 919781 HumanHap650Yv1.0_rs919781 1.83e-01 germline untested 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 71594514 919781 HumanHap650Yv3.0_rs919781 1.83e-01 unknown untested 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 75606376 919781 ILMN_Human_1M_rs919781 1.83e-01 germline untested 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 79289509 919781 HumanHap300v2.0_rs919781 1.83e-01 germline untested 2007.11.18 2007.11.18 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 81203246 919781 Cor18507_SNV_20070510.chr19_43616654 1.83e-01 unknown untested 2007.11.28 2007.11.28 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 83611755 919781 KHS501513 1.83e-01 germline untested 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 90969755 919781 JWB-1168131 1.83e-01 germline untested 2008.03.01 2008.03.01 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 96266928 919781 1103691141723 1.83e-01 germline untested 2008.03.26 2008.03.26 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 98236543 919781 HumanHap550v3.0__rs919781 1.83e-01 unknown untested 2008.03.31 2008.03.31 2000.10.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 106055008 919781 BGI_rs919781 1.83e-01 unknown untested 2008.09.13 2009.06.17 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 111364972 919781 CEU.trio.12.15.2008_3616559_chr19_43616654 1.83e-01 germline untested 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 115119729 919781 NA19240_2008_12_16_3257507_chr19_43616654 1.83e-01 germline untested 2008.12.19 2008.12.19 2000.10.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 117702443 919781 NA18507_000043815_NCBI36.1_chr19_43616654 1.83e-01 unknown untested 2009.01.20 2009.01.20 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 122950839 919781 HumanCNV370v1_C_rs919781 1.83e-01 germline untested 2009.04.15 2009.04.15 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 136267678 919781 ENSSNP1527829 1.83e-01 germline untested 2009.05.15 2009.10.15 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 137670159 919781 ENSSNP7183336 1.83e-01 unknown untested 2009.05.16 2009.05.16 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 154481556 919781 Human610_Quadv1_B_rs919781-128_T_R_1501882616 1.83e-01 germline untested 2009.06.20 2009.06.20 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 155887119 919781 GMI_SNP_40707364 1.83e-01 germline untested 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 159655961 919781 Human660W-Quad_v1_A_rs919781-128_T_R_1501882616 1.83e-01 unknown untested 2009.07.07 2009.07.07 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 160967997 919781 HumanOmni1-Quad_v1-0_B_rs919781-128_T_R_1501882616 1.83e-01 unknown untested 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 168182306 919781 NA07022_36_chr19_43616654 1.83e-01 unknown untested 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 169705535 919781 NA19240_36_chr19_43616654 1.83e-01 germline untested 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 171753897 919781 NA20431_36_chr19_43616654 1.83e-01 germline untested 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 172432517 919781 HumanCNV370-Quadv3_C_rs919781-128_T_R_1501882616 1.83e-01 germline untested 2009.10.02 2009.10.04 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 174784573 919781 Human1M-Duov3_B_rs919781-128_T_R_1501882616 1.83e-01 germline untested 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 203750765 919781 BUSHMAN-chr19-43616653 1.83e-01 germline untested 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 208401729 919781 BCM_CMT_1011-3091492 1.83e-01 germline untested 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 228135493 919781 pilot_1_YRI_9945176_chr19_43616654 1.83e-01 germline untested 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 237674039 919781 pilot_1_CEU_7278668_chr19_43616654 1.83e-01 germline untested 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 243880852 919781 pilot_1_CHB+JPT_5765929_chr19_43616654 1.83e-01 unknown untested 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 255667988 919781 SNP49543_19_43616654 1.83e-01 unknown untested 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 283205801 919781 GMI_AK_SNP_7526222 1.83e-01 germline untested 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 292248428 919781 SNP_1754786_chr19_43616654 1.83e-01 unknown untested 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.45+300T>C NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 475871411 919781 RYR1_00330 1.83e-01 germline untested 2011.11.25 2011.11.25 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 481843009 919781 HumanOmni2.5-4v1_B_rs919781-128_T_R_1782958566 1.83e-01 unknown untested 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 481875658 919781 HumanOmniExpress-12v1_C_rs919781-131_T_R_1857563607 1.83e-01 unknown untested 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 482832727 919781 HumanOmni1-Quad_v1-0_C_rs919781-131_T_R_1865291086 1.83e-01 germline untested 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38924814T>C;NG_008866.1:g.5475T>C;NM_000540.2:c.45+300T>C;NM_001042723.1:c.45+300T>C 485715943 919781 HumanOmni2.5-4v1_D_rs919781-131_T_R_1857563607 1.83e-01 germline untested 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924856T>C;NG_008866.1:g.5517T>C;NM_000540.2:c.45+342T>C;NM_001042723.1:c.45+342T>C 465586548 180706089 20101123_snps_11753778_chr19_38924856 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38924963C>T;NG_008866.1:g.5624C>T;NM_000540.2:c.45+449C>T;NM_001042723.1:c.45+449C>T 340454237 150790167 20100804_snps_12097778_chr19_38924963 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38924996T>C;NG_008866.1:g.5657T>C;NM_000540.2:c.45+482T>C;NM_001042723.1:c.45+482T>C 203750766 78371511 BUSHMAN-chr19-43616835 8.38e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924996T>C;NG_008866.1:g.5657T>C;NM_000540.2:c.45+482T>C;NM_001042723.1:c.45+482T>C 211962533 78371511 YRI.trio.3.2010_1440205_chr19_43616836 8.38e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924996T>C;NG_008866.1:g.5657T>C;NM_000540.2:c.45+482T>C;NM_001042723.1:c.45+482T>C 228135494 78371511 pilot_1_YRI_9945177_chr19_43616836 8.38e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38924996T>C;NG_008866.1:g.5657T>C;NM_000540.2:c.45+482T>C;NM_001042723.1:c.45+482T>C 237674040 78371511 pilot_1_CEU_7278669_chr19_43616836 8.38e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925007G>A;NG_008866.1:g.5668G>A;NM_000540.2:c.45+493G>A;NM_001042723.1:c.45+493G>A 340454238 139048961 20100804_snps_12097779_chr19_38925007 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38925079G>C;NG_008866.1:g.5740G>C;NM_000540.2:c.45+565G>C;NM_001042723.1:c.45+565G>C 96305651 71356805 1103691141719 1.37e-02 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38925079G>C;NG_008866.1:g.5740G>C;NM_000540.2:c.45+565G>C;NM_001042723.1:c.45+565G>C 139373487 71356805 ENSSNP3341909 1.37e-02 2009.05.18 2009.10.19 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925079G>C;NG_008866.1:g.5740G>C;NM_000540.2:c.45+565G>C;NM_001042723.1:c.45+565G>C 237674042 71356805 pilot_1_CEU_7278671_chr19_43616919 1.37e-02 2010.05.01 2010.05.01 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925116T>C;NG_008866.1:g.5777T>C;NM_000540.2:c.45+602T>C;NM_001042723.1:c.45+602T>C 237674043 117379662 pilot_1_CEU_7278672_chr19_43616956 1.05e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38925116T>C;NG_008866.1:g.5777T>C;NM_000540.2:c.45+602T>C;NM_001042723.1:c.45+602T>C 483225470 117379662 HumanOmni2.5-4v1_D_kgp3730827-0_B_F_1816294320 1.05e-02 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38925116T>C;NG_008866.1:g.5777T>C;NM_000540.2:c.45+602T>C;NM_001042723.1:c.45+602T>C 483825854 117379662 HumanOmni2.5-4v1_B_SNP19-43616956-0_B_F_1622818892 1.05e-02 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38925137G>A;NG_008866.1:g.5798G>A;NM_000540.2:c.45+623G>A;NM_001042723.1:c.45+623G>A 203750767 113157070 BUSHMAN-chr19-43616976 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 21511987 12972895 WGSA-200403-chr19.chr19.NT_011109.15_11193571 3.25e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 44159593 12972895 hCV7821825 3.25e-02 2005.07.18 2006.11.03 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 96305652 12972895 1103691141718 3.25e-02 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 228135495 12972895 pilot_1_YRI_9945178_chr19_43617193 3.25e-02 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 237674044 12972895 pilot_1_CEU_7278673_chr19_43617193 3.25e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38925353C>T;NG_008866.1:g.6014C>T;NM_000540.2:c.45+839C>T;NM_001042723.1:c.45+839C>T 292248429 12972895 SNP_1754787_chr19_43617193 3.25e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38925608A>G;NG_008866.1:g.6269A>G;NM_000540.2:c.45+1094A>G;NM_001042723.1:c.45+1094A>G 208542168 112555963 BCM_CMT_1011-3138708 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38925714T>C;NG_008866.1:g.6375T>C;NM_000540.2:c.45+1200T>C;NM_001042723.1:c.45+1200T>C 203750768 111810861 BUSHMAN-chr19-43617553 4.60e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925714T>C;NG_008866.1:g.6375T>C;NM_000540.2:c.45+1200T>C;NM_001042723.1:c.45+1200T>C 340454239 111810861 20100804_snps_12097780_chr19_38925714 4.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925715G>A;NG_008866.1:g.6376G>A;NM_000540.2:c.45+1201G>A;NM_001042723.1:c.45+1201G>A 243880853 117592545 pilot_1_CHB+JPT_5765930_chr19_43617555 3.75e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38925715G>A;NG_008866.1:g.6376G>A;NM_000540.2:c.45+1201G>A;NM_001042723.1:c.45+1201G>A 283205802 117592545 GMI_AK_SNP_7526223 3.75e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38925868T>C;NG_008866.1:g.6529T>C;NM_000540.2:c.45+1354T>C;NM_001042723.1:c.45+1354T>C 228135496 115346769 pilot_1_YRI_9945179_chr19_43617708 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925900G>A;NG_008866.1:g.6561G>A;NM_000540.2:c.45+1386G>A;NM_001042723.1:c.45+1386G>A 111364981 73044964 CEU.trio.12.15.2008_3616560_chr19_43617740 3.11e-02 2008.12.17 2008.12.17 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925900G>A;NG_008866.1:g.6561G>A;NM_000540.2:c.45+1386G>A;NM_001042723.1:c.45+1386G>A 237674045 73044964 pilot_1_CEU_7278674_chr19_43617740 3.11e-02 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925986C>T;NG_008866.1:g.6647C>T;NM_000540.2:c.45+1472C>T;NM_001042723.1:c.45+1472C>T 465586549 185936514 20101123_snps_11753779_chr19_38925986 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 35210407 28470238 TA-079.chr19_43617827 8.24e-02 2005.03.11 2005.05.24 2011.09.09 137 HGSV 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 78847877 28470238 Cor18507_SNV_20070510.chr19_43617827 8.24e-02 2007.10.21 2007.10.21 2005.05.24 2011.09.09 137 HGSV 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 85093730 28470238 Cor18517_SNV_20070510.chr19_43617827 8.24e-02 2007.12.08 2007.12.08 2005.05.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 115119736 28470238 NA19240_2008_12_16_3257508_chr19_43617827 8.24e-02 2008.12.19 2008.12.19 2005.05.24 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 117702444 28470238 NA18507_000043816_NCBI36.1_chr19_43617827 8.24e-02 2009.01.20 2009.01.20 2005.05.24 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 169705549 28470238 NA19240_36_chr19_43617827 8.24e-02 2009.10.01 2009.10.01 2005.05.24 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 203750769 28470238 BUSHMAN-chr19-43617826 8.24e-02 2010.03.09 2010.03.09 2005.05.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38925987G>A;NG_008866.1:g.6648G>A;NM_000540.2:c.45+1473G>A;NM_001042723.1:c.45+1473G>A 228135497 28470238 pilot_1_YRI_9945180_chr19_43617827 8.24e-02 2010.04.22 2010.04.22 2005.05.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38926201G>A;NG_008866.1:g.6862G>A;NM_000540.2:c.45+1687G>A;NM_001042723.1:c.45+1687G>A 340454240 147590150 20100804_snps_12097781_chr19_38926201 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38926244T>G;NG_008866.1:g.6905T>G;NM_000540.2:c.45+1730T>G;NM_001042723.1:c.45+1730T>G 21546200 12982973 WGSA-200403-chr19.chr19.NT_011109.15_11194462 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.38926302G>A;NG_008866.1:g.6963G>A;NM_000540.2:c.45+1788G>A;NM_001042723.1:c.45+1788G>A 21542241 12981819 WGSA-200403-chr19.chr19.NT_011109.15_11194520 2.30e-03 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38926302G>A;NG_008866.1:g.6963G>A;NM_000540.2:c.45+1788G>A;NM_001042723.1:c.45+1788G>A 340454241 12981819 20100804_snps_12097782_chr19_38926302 2.30e-03 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38926303G>C;NG_008866.1:g.6964G>C;NM_000540.2:c.45+1789G>C;NM_001042723.1:c.45+1789G>C 21542242 12981820 WGSA-200403-chr19.chr19.NT_011109.15_11194521 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.38926309G>C;NG_008866.1:g.6970G>C;NM_000540.2:c.45+1795G>C;NM_001042723.1:c.45+1795G>C 21542248 12981822 WGSA-200403-chr19.chr19.NT_011109.15_11194527 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38926389C>T;NG_008866.1:g.7050C>T;NM_000540.2:c.45+1875C>T;NM_001042723.1:c.45+1875C>T 228135498 114825544 pilot_1_YRI_9945181_chr19_43618229 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38926411A>G;NG_008866.1:g.7072A>G;NM_000540.2:c.45+1897A>G;NM_001042723.1:c.45+1897A>G 465586550 191134201 20101123_snps_11753780_chr19_38926411 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38926446A>G;NG_008866.1:g.7107A>G;NM_000540.2:c.45+1932A>G;NM_001042723.1:c.45+1932A>G 465586551 183805093 20101123_snps_11753781_chr19_38926446 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 6261 NC_000019.9:g.38926455delT;NC_000019.9:g.38926455delTinsTAGACATG;NG_008866.1:g.7116delT;NG_008866.1:g.7116delTinsTAGACATG;NM_000540.2:c.45+1941delT;NM_000540.2:c.45+1941delTinsTAGACATG;NM_001042723.1:c.45+1941delT;NM_001042723.1:c.45+1941delTinsTAGACATG 103616549 78596260 JWB-4066183 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38926455_38926464delTAGACATGAC;NG_008866.1:g.7116_7125delTAGACATGAC;NM_000540.2:c.45+1941_45+1950delTAGACATGAC;NM_001042723.1:c.45+1941_45+1950delTAGACATGAC 499576195 200882504 20110316_indels_chr19_38926454_38926463 5.50e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38926636C>G;NG_008866.1:g.7297C>G;NM_000540.2:c.45+2122C>G;NM_001042723.1:c.45+2122C>G 340454242 145600151 20100804_snps_12097783_chr19_38926636 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38926693C>T;NG_008866.1:g.7354C>T;NM_000540.2:c.45+2179C>T;NM_001042723.1:c.45+2179C>T 340454243 145334983 20100804_snps_12097784_chr19_38926693 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38926755delG;NG_008866.1:g.7416delG;NM_000540.2:c.45+2241delG;NM_001042723.1:c.45+2241delG 499576202 199831053 20110316_indels_chr19_38926754_38926754 9.60e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 ABI 6261 NC_000019.9:g.38926804_38926805insC;NG_008866.1:g.7465_7466insC;NM_000540.2:c.45+2290_45+2291insC;NM_001042723.1:c.45+2290_45+2291insC 41014888 35235008 hCV32823733 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38927094C>T;NG_008866.1:g.7755C>T;NM_000540.2:c.45+2580C>T;NM_001042723.1:c.45+2580C>T 340454247 140513109 20100804_snps_12097788_chr19_38927094 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38927144C>T;NG_008866.1:g.7805C>T;NM_000540.2:c.45+2630C>T;NM_001042723.1:c.45+2630C>T 81208748 57729391 Cor18507_SNV_20070510.chr19_43618984 1.40e-03 2007.11.28 2007.11.28 2007.12.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38927144C>T;NG_008866.1:g.7805C>T;NM_000540.2:c.45+2630C>T;NM_001042723.1:c.45+2630C>T 117702447 57729391 NA18507_000043817_NCBI36.1_chr19_43618984 1.40e-03 2009.01.20 2009.01.20 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927144C>T;NG_008866.1:g.7805C>T;NM_000540.2:c.45+2630C>T;NM_001042723.1:c.45+2630C>T 340454248 57729391 20100804_snps_12097789_chr19_38927144 1.40e-03 2011.03.22 2011.03.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927225G>A;NG_008866.1:g.7886G>A;NM_000540.2:c.45+2711G>A;NM_001042723.1:c.45+2711G>A 465586552 189115914 20101123_snps_11753782_chr19_38927225 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38927229A>G;NG_008866.1:g.7890A>G;NM_000540.2:c.45+2715A>G;NM_001042723.1:c.45+2715A>G 465586553 190376402 20101123_snps_11753783_chr19_38927229 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38927284A>G;NG_008866.1:g.7945A>G;NM_000540.2:c.45+2770A>G;NM_001042723.1:c.45+2770A>G 340454249 138358113 20100804_snps_12097790_chr19_38927284 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 6628533 4802437 NT_011109.13_1082331 1.63e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 10934404 4802437 chr19.NT_011109.15_11195534 1.63e-01 2003.06.30 2003.11.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 11193421 4802437 chr19.NT_011109.15_11195534 1.63e-01 2003.07.03 2006.10.25 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 16793199 4802437 CSHL-HuAA-200402.chr19.NT_011109.15_11195534 1.63e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 17616618 4802437 CSHL-HuCC-200402.chr19.NT_011109.15_11195534 1.63e-01 2004.02.19 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 21517725 4802437 WGSA-200403-chr19.chr19.NT_011109.15_11195534 1.63e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 24683432 4802437 afd4176682 1.63e-01 2004.08.21 2004.09.13 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 41005397 4802437 hCV7821817 1.63e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 76732196 4802437 AFFY_6_1M_SNP_A-8593654 1.63e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 79878457 4802437 Cor18507_SNV_20070510.chr19_43619156 1.63e-01 2007.11.24 2007.11.24 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 83246565 4802437 Cor18956_SNV_20070510.chr19_43619156 1.63e-01 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 83639094 4802437 Cor19240_SNV_20070510.chr19_43619156 1.63e-01 2007.12.05 2007.12.05 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 90969757 4802437 JWB-1168132 1.63e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 96305653 4802437 1103691141726 1.63e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 104905210 4802437 KHS1297533 1.63e-01 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 106055009 4802437 BGI_rs4802437 1.63e-01 2008.09.13 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 111364989 4802437 CEU.trio.12.15.2008_3616561_chr19_43619156 1.63e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 115119746 4802437 NA19240_2008_12_16_3257509_chr19_43619156 1.63e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 117702448 4802437 NA18507_000043818_NCBI36.1_chr19_43619156 1.63e-01 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 137670163 4802437 ENSSNP5830856 1.63e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 139374491 4802437 ENSSNP7564675 1.63e-01 2009.05.18 2009.10.19 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 155887130 4802437 GMI_SNP_40639356 1.63e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 160713830 4802437 HumanOmni1-Quad_v1-0_B_rs4802437-128_B_R_1568802194 1.63e-01 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 168182316 4802437 NA07022_36_chr19_43619156 1.63e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 169705567 4802437 NA19240_36_chr19_43619156 1.63e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 171753901 4802437 NA20431_36_chr19_43619156 1.63e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 203750770 4802437 BUSHMAN-chr19-43619155 1.63e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 208421859 4802437 BCM_CMT_1011-3098181 1.63e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 228135499 4802437 pilot_1_YRI_9945182_chr19_43619156 1.63e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 237674046 4802437 pilot_1_CEU_7278675_chr19_43619156 1.63e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 243880854 4802437 pilot_1_CHB+JPT_5765931_chr19_43619156 1.63e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 255667993 4802437 SNP49544_19_43619156 1.63e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 283205803 4802437 GMI_AK_SNP_7526224 1.63e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 292248430 4802437 SNP_1754788_chr19_43619156 1.63e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 481054830 4802437 HumanOmni2.5-4v1_B_rs4802437-128_B_R_1773391360 1.63e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 481076416 4802437 HumanOmniExpress-12v1_C_rs4802437-131_B_R_1858043019 1.63e-01 2012.01.31 2012.01.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 482069518 4802437 HumanOmni1-Quad_v1-0_C_rs4802437-131_B_R_1865245581 1.63e-01 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38927316A>G;NG_008866.1:g.7977A>G;NM_000540.2:c.45+2802A>G;NM_001042723.1:c.45+2802A>G 485322441 4802437 HumanOmni2.5-4v1_D_rs4802437-131_B_R_1858043019 1.63e-01 2012.02.05 2012.02.05 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927491C>T;NG_008866.1:g.8152C>T;NM_000540.2:c.45+2977C>T;NM_001042723.1:c.45+2977C>T 465586554 182887631 20101123_snps_11753784_chr19_38927491 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38927511T>A;NG_008866.1:g.8172T>A;NM_000540.2:c.45+2997T>A;NM_001042723.1:c.45+2997T>A 228135500 115997727 pilot_1_YRI_9945183_chr19_43619351 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38927515C>T;NG_008866.1:g.8176C>T;NM_000540.2:c.45+3001C>T;NM_001042723.1:c.45+3001C>T 340454250 142837823 20100804_snps_12097791_chr19_38927515 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38927573G>A;NG_008866.1:g.8234G>A;NM_000540.2:c.45+3059G>A;NM_001042723.1:c.45+3059G>A 465586555 186849213 20101123_snps_11753785_chr19_38927573 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38927699_38927700insT;NG_008866.1:g.8360_8361insT;NM_000540.2:c.45+3185_45+3186insT;NM_001042723.1:c.45+3185_45+3186insT 79986503 58434226 Cor18507_DIV_20070510.chr19_43619548-43619549_1 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 GMI 6261 NC_000019.9:g.38927714G>A;NG_008866.1:g.8375G>A;NM_000540.2:c.45+3200G>A;NM_001042723.1:c.45+3200G>A 155887138 75894379 GMI_SNP_40752498 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38927714G>A;NG_008866.1:g.8375G>A;NM_000540.2:c.45+3200G>A;NM_001042723.1:c.45+3200G>A 283205804 75894379 GMI_AK_SNP_7526225 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927714G>A;NG_008866.1:g.8375G>A;NM_000540.2:c.45+3200G>A;NM_001042723.1:c.45+3200G>A 340454251 75894379 20100804_snps_12097792_chr19_38927714 1.05e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927885T>A;NG_008866.1:g.8546T>A;NM_000540.2:c.45+3371T>A;NM_001042723.1:c.45+3371T>A 465586556 191634430 20101123_snps_11753786_chr19_38927885 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38927934G>A;NG_008866.1:g.8595G>A;NM_000540.2:c.45+3420G>A;NM_001042723.1:c.45+3420G>A 203750771 113560097 BUSHMAN-chr19-43619773 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 6627527 4801752 NT_011109.13_1082976 4.78e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 10941853 4801752 chr19.NT_011109.15_11196179 4.78e-01 2003.06.30 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 16796504 4801752 CSHL-HuAA-200402.chr19.NT_011109.15_11196179 4.78e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 21545614 4801752 WGSA-200403-chr19.chr19.NT_011109.15_11196179 4.78e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 41046907 4801752 hCV7821816 4.78e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 77283860 4801752 Cor12156_SNV_20070510.chr19_43619801 4.78e-01 2007.10.10 2007.10.12 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 82640141 4801752 Cor19240_SNV_20070510.chr19_43619801 4.78e-01 2007.12.03 2007.12.03 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 90969759 4801752 JWB-1168133 4.78e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 96305654 4801752 1103691141725 4.78e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 132762354 4801752 ENSSNP1527831 4.78e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 137670165 4801752 ENSSNP11444259 4.78e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 155887144 4801752 GMI_SNP_120614880 4.78e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 168182332 4801752 NA07022_36_chr19_43619801 4.78e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 169705582 4801752 NA19240_36_chr19_43619801 4.78e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 171753909 4801752 NA20431_36_chr19_43619801 4.78e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 255667999 4801752 SNP49545_19_43619801 4.78e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 283205805 4801752 GMI_AK_SNP_7526226 4.78e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 292248431 4801752 SNP_1754789_chr19_43619801 4.78e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38927961G>A;NG_008866.1:g.8622G>A;NM_000540.2:c.46-3424G>A;NM_001042723.1:c.46-3424G>A 340454252 4801752 20100804_snps_12097793_chr19_38927961 4.78e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928026delA;NG_008866.1:g.8687delA;NM_000540.2:c.46-3359delA;NM_001042723.1:c.46-3359delA 499576206 200864491 20110316_indels_chr19_38928025_38928025 1.05e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928207C>T;NG_008866.1:g.8868C>T;NM_000540.2:c.46-3178C>T;NM_001042723.1:c.46-3178C>T 340454253 149289173 20100804_snps_12097794_chr19_38928207 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38928230C>T;NG_008866.1:g.8891C>T;NM_000540.2:c.46-3155C>T;NM_001042723.1:c.46-3155C>T 340454254 144621518 20100804_snps_12097795_chr19_38928230 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38928289T>C;NG_008866.1:g.8950T>C;NM_000540.2:c.46-3096T>C;NM_001042723.1:c.46-3096T>C 340454255 139719903 20100804_snps_12097796_chr19_38928289 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38928317G>C;NG_008866.1:g.8978G>C;NM_000540.2:c.46-3068G>C;NM_001042723.1:c.46-3068G>C 237674047 78474007 pilot_1_CEU_7278676_chr19_43620157 1.80e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928435A>C;NG_008866.1:g.9096A>C;NM_000540.2:c.46-2950A>C;NM_001042723.1:c.46-2950A>C 228135501 114630047 pilot_1_YRI_9945184_chr19_43620275 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 6261 NC_000019.9:g.38928628_38928629insA;NG_008866.1:g.9289_9290insA;NM_000540.2:c.46-2757_46-2756insA;NM_001042723.1:c.46-2757_46-2756insA 41043920 35081034 hCV32823742 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38928629_38928630insA;NG_008866.1:g.9290_9291insA;NM_000540.2:c.46-2756_46-2755insA;NM_001042723.1:c.46-2756_46-2755insA 15341196 11452334 INDEL_GP34_WGS_491048 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38928629delA;NG_008866.1:g.9290delA;NM_000540.2:c.46-2756delA;NM_001042723.1:c.46-2756delA 41053132 36001630 hCV32823743 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38928629_38928630insA;NG_008866.1:g.9290_9291insA;NM_000540.2:c.46-2756_46-2755insA;NM_001042723.1:c.46-2756_46-2755insA 50099652 11452334 INDEL_GP35_WGS_303492 2006.01.24 2006.01.24 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38928629_38928630insA;NG_008866.1:g.9290_9291insA;NM_000540.2:c.46-2756_46-2755insA;NM_001042723.1:c.46-2756_46-2755insA 95728319 11452334 1104685411577 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38928629A>T;NG_008866.1:g.9290A>T;NM_000540.2:c.46-2756A>T;NM_001042723.1:c.46-2756A>T 283205806 201221728 GMI_AK_SNP_7526227 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.38928629delA;NG_008866.1:g.9290delA;NM_000540.2:c.46-2756delA;NM_001042723.1:c.46-2756delA 289387875 36001630 GMI_AK_INDEL_1065332 2010.12.30 2011.12.30 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38928629_38928630insA;NG_008866.1:g.9290_9291insA;NM_000540.2:c.46-2756_46-2755insA;NM_001042723.1:c.46-2756_46-2755insA 289387876 11452334 GMI_AK_INDEL_1065333 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38928629delA;NG_008866.1:g.9290delA;NM_000540.2:c.46-2756delA;NM_001042723.1:c.46-2756delA 294962511 36001630 DIP_400215_chr19_43620469 2011.01.22 2011.01.22 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928711T>C;NG_008866.1:g.9372T>C;NM_000540.2:c.46-2674T>C;NM_001042723.1:c.46-2674T>C 340454256 145078815 20100804_snps_12097797_chr19_38928711 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38928714C>T;NG_008866.1:g.9375C>T;NM_000540.2:c.46-2671C>T;NM_001042723.1:c.46-2671C>T 340454257 147137734 20100804_snps_12097798_chr19_38928714 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38928715G>A;NG_008866.1:g.9376G>A;NM_000540.2:c.46-2670G>A;NM_001042723.1:c.46-2670G>A 340454258 140437267 20100804_snps_12097799_chr19_38928715 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38928835C>A;NG_008866.1:g.9496C>A;NM_000540.2:c.46-2550C>A;NM_001042723.1:c.46-2550C>A 203750772 112549576 BUSHMAN-chr19-43620674 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38928900delG;NG_008866.1:g.9561delG;NM_000540.2:c.46-2485delG;NM_001042723.1:c.46-2485delG 328276214 144342771 YRI_chr19_43620739_indel 7.80e-03 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928900delG;NG_008866.1:g.9561delG;NM_000540.2:c.46-2485delG;NM_001042723.1:c.46-2485delG 499576210 144342771 20110316_indels_chr19_38928899_38928899 7.80e-03 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38928959A>G;NG_008866.1:g.9620A>G;NM_000540.2:c.46-2426A>G;NM_001042723.1:c.46-2426A>G 465586557 185077897 20101123_snps_11753787_chr19_38928959 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.38929027_38929028insTT;NG_008866.1:g.9688_9689insTT;NM_000540.2:c.46-2358_46-2357insTT;NM_001042723.1:c.46-2358_46-2357insTT 41049372 35789428 hCV32823748 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 81092938 57867430 Cor18956_DIV_20070510.chr19_43620879-43620880_1 2007.11.27 2007.11.27 2007.12.15 2012.12.04 137 HGSV 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 81500925 57867430 Cor18956_DIV_20070510.chr19_43620879-43620880_2 2007.11.30 2007.11.30 2007.12.15 2012.12.04 137 HGSV 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 83240892 57867430 Cor18517_DIV_20070510.chr19_43620879-43620880_1 2007.12.04 2007.12.04 2007.12.15 2012.12.04 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 95728320 57867430 1104685411578 2008.03.23 2008.12.03 2007.12.15 2012.12.04 137 GMI 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 288525665 57867430 GMI_NA10851_INDEL_296293 2010.12.22 2010.12.22 2007.12.15 2012.12.04 137 GMI 6261 NC_000019.9:g.38929028_38929029insTT;NG_008866.1:g.9689_9690insTT;NM_000540.2:c.46-2357_46-2356insTT;NM_001042723.1:c.46-2357_46-2356insTT 289387877 57867430 GMI_AK_INDEL_1065334 2010.12.30 2011.12.30 2007.12.15 2012.12.04 137 BCM_SSAHASNP 6261 NC_000019.9:g.38929042T>G;NG_008866.1:g.9703T>G;NM_000540.2:c.46-2343T>G;NM_001042723.1:c.46-2343T>G 10923686 7248727 chr19.NT_011109.15_11197260 6.04e-02 2003.06.30 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38929042T>G;NG_008866.1:g.9703T>G;NM_000540.2:c.46-2343T>G;NM_001042723.1:c.46-2343T>G 228135504 7248727 pilot_1_YRI_9945187_chr19_43620882 6.04e-02 2010.04.22 2010.04.22 2003.07.11 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38929042T>G;NG_008866.1:g.9703T>G;NM_000540.2:c.46-2343T>G;NM_001042723.1:c.46-2343T>G 237674049 7248727 pilot_1_CEU_7278678_chr19_43620882 6.04e-02 2010.05.01 2010.05.01 2003.07.11 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38929060A>G;NG_008866.1:g.9721A>G;NM_000540.2:c.46-2325A>G;NM_001042723.1:c.46-2325A>G 340454259 144285425 20100804_snps_12097800_chr19_38929060 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38929064G>T;NG_008866.1:g.9725G>T;NM_000540.2:c.46-2321G>T;NM_001042723.1:c.46-2321G>T 83317873 60310647 Cor18956_SNV_20070510.chr19_43620904 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 GMI 6261 NC_000019.9:g.38929157T>C;NG_008866.1:g.9818T>C;NM_000540.2:c.46-2228T>C;NM_001042723.1:c.46-2228T>C 283205807 151162449 GMI_AK_SNP_7526228 6.00e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929157T>C;NG_008866.1:g.9818T>C;NM_000540.2:c.46-2228T>C;NM_001042723.1:c.46-2228T>C 340454260 151162449 20100804_snps_12097801_chr19_38929157 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38929257_38929258insT;NG_008866.1:g.9918_9919insT;NM_000540.2:c.46-2128_46-2127insT;NM_001042723.1:c.46-2128_46-2127insT 95728321 71165544 1104685411579 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.38929257_38929258insT;NG_008866.1:g.9918_9919insT;NM_000540.2:c.46-2128_46-2127insT;NM_001042723.1:c.46-2128_46-2127insT 294962514 71165544 DIP_400218_chr19_43621097 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.38929257_38929258insT;NG_008866.1:g.9918_9919insT;NM_000540.2:c.46-2128_46-2127insT;NM_001042723.1:c.46-2128_46-2127insT 294962515 71165544 DIP_400219_chr19_43621116 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38929274_38929277delTTTG;NG_008866.1:g.9935_9938delTTTG;NM_000540.2:c.46-2111_46-2108delTTTG;NM_001042723.1:c.46-2111_46-2108delTTTG 103616551 77829335 JWB-4066184 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38929289C>G;NG_008866.1:g.9950C>G;NM_000540.2:c.46-2096C>G;NM_001042723.1:c.46-2096C>G 465586558 187535772 20101123_snps_11753788_chr19_38929289 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38929305C>T;NG_008866.1:g.9966C>T;NM_000540.2:c.46-2080C>T;NM_001042723.1:c.46-2080C>T 465586559 192788833 20101123_snps_11753789_chr19_38929305 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38929328G>A;NG_008866.1:g.9989G>A;NM_000540.2:c.46-2057G>A;NM_001042723.1:c.46-2057G>A 340454261 139890074 20100804_snps_12097802_chr19_38929328 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38929344C>T;NG_008866.1:g.10005C>T;NM_000540.2:c.46-2041C>T;NM_001042723.1:c.46-2041C>T 465586560 185431705 20101123_snps_11753790_chr19_38929344 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38929505A>G;NG_008866.1:g.10166A>G;NM_000540.2:c.46-1880A>G;NM_001042723.1:c.46-1880A>G 203750773 111327274 BUSHMAN-chr19-43621344 7.30e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929505A>G;NG_008866.1:g.10166A>G;NM_000540.2:c.46-1880A>G;NM_001042723.1:c.46-1880A>G 340454262 111327274 20100804_snps_12097803_chr19_38929505 7.30e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38929544C>T;NG_008866.1:g.10205C>T;NM_000540.2:c.46-1841C>T;NM_001042723.1:c.46-1841C>T 169705597 112184750 NA19240_36_chr19_43621384 3.53e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929544C>T;NG_008866.1:g.10205C>T;NM_000540.2:c.46-1841C>T;NM_001042723.1:c.46-1841C>T 340454263 112184750 20100804_snps_12097804_chr19_38929544 3.53e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929547C>T;NG_008866.1:g.10208C>T;NM_000540.2:c.46-1838C>T;NM_001042723.1:c.46-1838C>T 340454264 140711794 20100804_snps_12097805_chr19_38929547 2.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38929642G>A;NG_008866.1:g.10303G>A;NM_000540.2:c.46-1743G>A;NM_001042723.1:c.46-1743G>A 203750774 112142943 BUSHMAN-chr19-43621481 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38929770A>G;NG_008866.1:g.10431A>G;NM_000540.2:c.46-1615A>G;NM_001042723.1:c.46-1615A>G 340454266 146539819 20100804_snps_12097807_chr19_38929770 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38929808_38929809insAAAAAAC;NG_008866.1:g.10469_10470insAAAAAAC;NM_000540.2:c.46-1577_46-1576insAAAAAAC;NM_001042723.1:c.46-1577_46-1576insAAAAAAC 327903731 144423632 JPTCHB_chr19_43621648_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38929808_38929809insAAAAAAC;NG_008866.1:g.10469_10470insAAAAAAC;NM_000540.2:c.46-1577_46-1576insAAAAAAC;NM_001042723.1:c.46-1577_46-1576insAAAAAAC 328276215 144423632 YRI_chr19_43621648_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.38929827delT;NG_008866.1:g.10488delT;NM_000540.2:c.46-1558delT;NM_001042723.1:c.46-1558delT 155772197 77428971 GMI_INDEL-156339 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38929827delT;NG_008866.1:g.10488delT;NM_000540.2:c.46-1558delT;NM_001042723.1:c.46-1558delT 289387878 77428971 GMI_AK_INDEL_1065335 2010.12.30 2011.12.30 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38929827delT;NG_008866.1:g.10488delT;NM_000540.2:c.46-1558delT;NM_001042723.1:c.46-1558delT 289387879 77428971 GMI_AK_INDEL_1065336 2010.12.30 2011.12.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929833T>G;NG_008866.1:g.10494T>G;NM_000540.2:c.46-1552T>G;NM_001042723.1:c.46-1552T>G 465586561 190726599 20101123_snps_11753791_chr19_38929833 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 111365007 73044967 CEU.trio.12.15.2008_3616563_chr19_43621674 5.40e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 203750775 73044967 BUSHMAN-chr19-43621673 5.40e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 211962535 73044967 YRI.trio.3.2010_1440206_chr19_43621674 5.40e-02 2010.03.31 2010.03.31 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 228135505 73044967 pilot_1_YRI_9945188_chr19_43621674 5.40e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 237674050 73044967 pilot_1_CEU_7278679_chr19_43621674 5.40e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38929834T>G;NG_008866.1:g.10495T>G;NM_000540.2:c.46-1551T>G;NM_001042723.1:c.46-1551T>G 283205808 73044967 GMI_AK_SNP_7526229 5.40e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929852A>G;NG_008866.1:g.10513A>G;NM_000540.2:c.46-1533A>G;NM_001042723.1:c.46-1533A>G 237674051 118007563 pilot_1_CEU_7278680_chr19_43621692 3.53e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BGI 6261 NC_000019.9:g.38929880C>T;NG_008866.1:g.10541C>T;NM_000540.2:c.46-1505C>T;NM_001042723.1:c.46-1505C>T 103437695 79804123 BGI_YHSNP0125964 2008.06.06 2009.06.17 2009.12.01 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38929889delC;NG_008866.1:g.10550delC;NM_000540.2:c.46-1496delC;NM_001042723.1:c.46-1496delC 193510322 111735441 BUSHMAN-chr19-43621728-43621729 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 6628545 4802446 NT_011109.13_1084931 2.47e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 10929278 4802446 chr19.NT_011109.15_11198134 2.47e-02 2003.06.30 2008.03.31 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 12460014 4802446 chr19.NT_011109.15_11198134 2.47e-02 2003.07.04 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 19405364 4802446 CSHL-HuDD-200402.chr19.NT_011109.15_11198134 2.47e-02 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 21550147 4802446 WGSA-200403-chr19.chr19.NT_011109.15_11198134 2.47e-02 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 23763052 4802446 afd4246072 2.47e-02 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 40997016 4802446 hCV30930893 2.47e-02 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 76448146 4802446 AFFY_6_1M_SNP_A-8309167 2.47e-02 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 77342744 4802446 Cor12156_SNV_20070510.chr19_43621756 2.47e-02 2007.10.10 2007.10.12 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 78232517 4802446 Cor12878_SNV_20070510.chr19_43621756 2.47e-02 2007.10.18 2007.10.18 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 90969762 4802446 JWB-1168134 2.47e-02 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 104905211 4802446 KHS1297534 2.47e-02 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 106055010 4802446 BGI_rs4802446 2.47e-02 2008.09.13 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 111365015 4802446 CEU.trio.12.15.2008_3616564_chr19_43621756 2.47e-02 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 115119764 4802446 NA19240_2008_12_16_3257511_chr19_43621756 2.47e-02 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 117702450 4802446 NA18507_000043819_NCBI36.1_chr19_43621756 2.47e-02 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 137670168 4802446 ENSSNP11444260 2.47e-02 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 142591693 4802446 ENSSNP1527832 2.47e-02 2009.06.05 2009.10.19 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 155887149 4802446 GMI_SNP_40845698 2.47e-02 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 168182344 4802446 NA07022_36_chr19_43621756 2.47e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 169705610 4802446 NA19240_36_chr19_43621756 2.47e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 171753921 4802446 NA20431_36_chr19_43621756 2.47e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 203750776 4802446 BUSHMAN-chr19-43621755 2.47e-02 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 208502732 4802446 BCM_CMT_1011-3125269 2.47e-02 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 228135506 4802446 pilot_1_YRI_9945189_chr19_43621756 2.47e-02 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 237674052 4802446 pilot_1_CEU_7278681_chr19_43621756 2.47e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 243880856 4802446 pilot_1_CHB+JPT_5765933_chr19_43621756 2.47e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 255668004 4802446 SNP49546_19_43621756 2.47e-02 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 283205809 4802446 GMI_AK_SNP_7526230 2.47e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38929916A>G;NG_008866.1:g.10577A>G;NM_000540.2:c.46-1469A>G;NM_001042723.1:c.46-1469A>G 292248432 4802446 SNP_1754790_chr19_43621756 2.47e-02 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930129G>A;NG_008866.1:g.10790G>A;NM_000540.2:c.46-1256G>A;NM_001042723.1:c.46-1256G>A 340454267 141189721 20100804_snps_12097808_chr19_38930129 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38930166A>G;NG_008866.1:g.10827A>G;NM_000540.2:c.46-1219A>G;NM_001042723.1:c.46-1219A>G 465586562 181448739 20101123_snps_11753792_chr19_38930166 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 10930411 6508800 chr19.NT_011109.15_11198516 2.94e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 12461112 6508800 chr19.NT_011109.15_11198516 2.94e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 16803564 6508800 CSHL-HuAA-200402.chr19.NT_011109.15_11198516 2.94e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 19405668 6508800 CSHL-HuDD-200402.chr19.NT_011109.15_11198516 2.94e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 21554582 6508800 WGSA-200403-chr19.chr19.NT_011109.15_11198516 2.94e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 83783130 6508800 Cor18956_SNV_20070510.chr19_43622138 2.94e-01 2007.12.05 2007.12.05 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 84289776 6508800 Cor19240_SNV_20070510.chr19_43622138 2.94e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 90969764 6508800 JWB-1168135 2.94e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 96305655 6508800 1103691141728 2.94e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 117702452 6508800 NA18507_000043820_NCBI36.1_chr19_43622138 2.94e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 132762357 6508800 ENSSNP1527833 2.94e-01 2009.05.12 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 137670172 6508800 ENSSNP6653197 2.94e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 155887156 6508800 GMI_SNP_74249855 2.94e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 168182353 6508800 NA07022_36_chr19_43622138 2.94e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 169705626 6508800 NA19240_36_chr19_43622138 2.94e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 171753925 6508800 NA20431_36_chr19_43622138 2.94e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 203750777 6508800 BUSHMAN-chr19-43622137 2.94e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 208430759 6508800 BCM_CMT_1011-3101118 2.94e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 255668009 6508800 SNP49547_19_43622138 2.94e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 283205810 6508800 GMI_AK_SNP_7526231 2.94e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 292248433 6508800 SNP_1754791_chr19_43622138 2.94e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930298C>T;NG_008866.1:g.10959C>T;NM_000540.2:c.46-1087C>T;NM_001042723.1:c.46-1087C>T 340454268 6508800 20100804_snps_12097809_chr19_38930298 2.94e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38930355C>T;NG_008866.1:g.11016C>T;NM_000540.2:c.46-1030C>T;NM_001042723.1:c.46-1030C>T 155887167 80156336 GMI_SNP_179370722 1.33e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38930355C>T;NG_008866.1:g.11016C>T;NM_000540.2:c.46-1030C>T;NM_001042723.1:c.46-1030C>T 283205811 80156336 GMI_AK_SNP_7526232 1.33e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930355C>T;NG_008866.1:g.11016C>T;NM_000540.2:c.46-1030C>T;NM_001042723.1:c.46-1030C>T 340454269 80156336 20100804_snps_12097810_chr19_38930355 1.33e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930383A>G;NG_008866.1:g.11044A>G;NM_000540.2:c.46-1002A>G;NM_001042723.1:c.46-1002A>G 340454270 141261528 20100804_snps_12097811_chr19_38930383 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38930495A>G;NG_008866.1:g.11156A>G;NM_000540.2:c.46-890A>G;NM_001042723.1:c.46-890A>G 211962537 114566153 YRI.trio.3.2010_1440207_chr19_43622335 6.78e-02 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930495A>G;NG_008866.1:g.11156A>G;NM_000540.2:c.46-890A>G;NM_001042723.1:c.46-890A>G 228135507 114566153 pilot_1_YRI_9945190_chr19_43622335 6.78e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930495A>G;NG_008866.1:g.11156A>G;NM_000540.2:c.46-890A>G;NM_001042723.1:c.46-890A>G 243880857 114566153 pilot_1_CHB+JPT_5765934_chr19_43622335 6.78e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38930495A>G;NG_008866.1:g.11156A>G;NM_000540.2:c.46-890A>G;NM_001042723.1:c.46-890A>G 283205812 114566153 GMI_AK_SNP_7526233 6.78e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930551A>G;NG_008866.1:g.11212A>G;NM_000540.2:c.46-834A>G;NM_001042723.1:c.46-834A>G 340454271 150349830 20100804_snps_12097812_chr19_38930551 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38930780G>C;NG_008866.1:g.11441G>C;NM_000540.2:c.46-605G>C;NM_001042723.1:c.46-605G>C 117702454 76846689 NA18507_000043821_NCBI36.1_chr19_43622620 2.70e-03 2009.01.20 2009.01.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930780G>C;NG_008866.1:g.11441G>C;NM_000540.2:c.46-605G>C;NM_001042723.1:c.46-605G>C 340454272 76846689 20100804_snps_12097813_chr19_38930780 2.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38930999C>T;NG_008866.1:g.11660C>T;NM_000540.2:c.46-386C>T;NM_001042723.1:c.46-386C>T 340454273 143715861 20100804_snps_12097814_chr19_38930999 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38931023A>G;NG_008866.1:g.11684A>G;NM_000540.2:c.46-362A>G;NM_001042723.1:c.46-362A>G 203750778 113863694 BUSHMAN-chr19-43622862 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38931025A>G;NG_008866.1:g.11686A>G;NM_000540.2:c.46-360A>G;NM_001042723.1:c.46-360A>G 340454274 147147796 20100804_snps_12097815_chr19_38931025 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38931103_38931104insA;NG_008866.1:g.11764_11765insA;NM_000540.2:c.46-282_46-281insA;NM_001042723.1:c.46-282_46-281insA 40984286 35667972 hCV32823772 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 ABI 6261 NC_000019.9:g.38931257_38931258insG;NG_008866.1:g.11918_11919insG;NM_000540.2:c.46-128_46-127insG;NM_001042723.1:c.46-128_46-127insG 41013753 35664291 hCV32823773 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38931302G>C;NG_008866.1:g.11963G>C;NM_000540.2:c.46-83G>C;NM_001042723.1:c.46-83G>C 465586563 184574895 20101123_snps_11753793_chr19_38931302 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38931381G>T;NG_008866.1:g.12042G>T;NM_000540.2:c.46-4G>T;NM_001042723.1:c.46-4G>T 489164314 201094741 20110521_exome_255552_chr19_38931381 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.51_53del NC_000019.9:g.38931390_38931392delTGA;NG_008866.1:g.12051_12053delTGA;NM_000540.2:c.51_53delTGA;NM_001042723.1:c.51_53delTGA;NP_000531.2:p.Asp17_Glu18delinsGlu;NP_001036188.1:p.Asp17_Glu18delinsGlu 475871412 193922745 RYR1_00254 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38931418G>A;NG_008866.1:g.12079G>A;NM_000540.2:c.79G>A;NM_001042723.1:c.79G>A;NP_000531.2:p.Val27Met;NP_001036188.1:p.Val27Met 342496352 143481004 ESP2500-chr19-38931418 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38931418G>A;NG_008866.1:g.12079G>A;NM_000540.2:c.79G>A;NM_001042723.1:c.79G>A;NP_000531.2:p.Val27Met;NP_001036188.1:p.Val27Met 491546412 143481004 nonsyn_262638_chr_19_38931418 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38931428A>T;NG_008866.1:g.12089A>T;NM_000540.2:c.89A>T;NM_001042723.1:c.89A>T;NP_000531.2:p.Glu30Val;NP_001036188.1:p.Glu30Val 342496353 145771708 ESP2500-chr19-38931428 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38931428A>T;NG_008866.1:g.12089A>T;NM_000540.2:c.89A>T;NM_001042723.1:c.89A>T;NP_000531.2:p.Glu30Val;NP_001036188.1:p.Glu30Val 491546413 145771708 nonsyn_262639_chr_19_38931428 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38931428A>T;NG_008866.1:g.12089A>T;NM_000540.2:c.89A>T;NM_001042723.1:c.89A>T;NP_000531.2:p.Glu30Val;NP_001036188.1:p.Glu30Val 491766116 145771708 SNV-chr19-43623268 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38931433C>T;NG_008866.1:g.12094C>T;NM_000540.2:c.94C>T;NM_001042723.1:c.94C>T;NP_000531.2:p.Leu32Phe;NP_001036188.1:p.Leu32Phe 342496354 138630815 ESP2500-chr19-38931433 2.30e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931433C>T;NG_008866.1:g.12094C>T;NM_000540.2:c.94C>T;NM_001042723.1:c.94C>T;NP_000531.2:p.Leu32Phe;NP_001036188.1:p.Leu32Phe 465586564 138630815 20101123_snps_11753794_chr19_38931433 2.30e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931433C>T;NG_008866.1:g.12094C>T;NM_000540.2:c.94C>T;NM_001042723.1:c.94C>T;NP_000531.2:p.Leu32Phe;NP_001036188.1:p.Leu32Phe 491157895 138630815 20110521_exome_665693_chr19_38931433 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38931433C>T;NG_008866.1:g.12094C>T;NM_000540.2:c.94C>T;NM_001042723.1:c.94C>T;NP_000531.2:p.Leu32Phe;NP_001036188.1:p.Leu32Phe 491546414 138630815 nonsyn_262640_chr_19_38931433 2.30e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.97A>G NC_000019.9:g.38931436A>G;NG_008866.1:g.12097A>G;NM_000540.2:c.97A>G;NM_001042723.1:c.97A>G;NP_000531.2:p.Lys33Glu;NP_001036188.1:p.Lys33Glu 475871413 193922746 RYR1_00300 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.103T>C NC_000019.9:g.38931442T>C;NG_008866.1:g.12103T>C;NM_000540.2:c.103T>C;NM_001042723.1:c.103T>C;NP_000531.2:p.Cys35Arg;NP_001036188.1:p.Cys35Arg 475871414 193922747 RYR1_00027 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38931450C>T;NG_008866.1:g.12111C>T;NM_000540.2:c.111C>T;NM_001042723.1:c.111C>T;NP_000531.2:p.Ala37=;NP_001036188.1:p.Ala37= 342496355 142909076 ESP2500-chr19-38931450 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38931453C>T;NG_008866.1:g.12114C>T;NM_000540.2:c.114C>T;NM_001042723.1:c.114C>T;NP_000531.2:p.Ala38=;NP_001036188.1:p.Ala38= 342496356 150794120 ESP2500-chr19-38931453 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931453C>T;NG_008866.1:g.12114C>T;NM_000540.2:c.114C>T;NM_001042723.1:c.114C>T;NP_000531.2:p.Ala38=;NP_001036188.1:p.Ala38= 489164316 150794120 20110521_exome_255553_chr19_38931453 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.130C>T NC_000019.9:g.38931469C>T;NG_008866.1:g.12130C>T;NM_000540.2:c.130C>T;NM_001042723.1:c.130C>T;NP_000531.2:p.Arg44Cys;NP_001036188.1:p.Arg44Cys 475871415 193922748 RYR1_00213 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38931470G>A;NG_008866.1:g.12131G>A;NM_000540.2:c.131G>A;NM_001042723.1:c.131G>A;NP_000531.2:p.Arg44His;NP_001036188.1:p.Arg44His 342496357 139161723 ESP2500-chr19-38931470 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.131G>A NC_000019.9:g.38931470G>A;NG_008866.1:g.12131G>A;NM_000540.2:c.131G>A;NM_001042723.1:c.131G>A;NP_000531.2:p.Arg44His;NP_001036188.1:p.Arg44His 475871416 139161723 RYR1_00076 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.152C>A NC_000019.9:g.38931491C>A;NG_008866.1:g.12152C>A;NM_000540.2:c.152C>A;NM_001042723.1:c.152C>A;NP_000531.2:p.Thr51Asn;NP_001036188.1:p.Thr51Asn 475871417 193922749 RYR1_00309 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38931498C>T;NG_008866.1:g.12159C>T;NM_000540.2:c.159C>T;NM_001042723.1:c.159C>T;NP_000531.2:p.Asn53=;NP_001036188.1:p.Asn53= 342496358 149509270 ESP2500-chr19-38931498 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.38931578G>C;NG_008866.1:g.12239G>C;NM_000540.2:c.165+74G>C;NM_001042723.1:c.165+74G>C 3250959 2304145 IMS-JST061044 2.29e-02 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38931578G>C;NG_008866.1:g.12239G>C;NM_000540.2:c.165+74G>C;NM_001042723.1:c.165+74G>C 24195741 2304145 afd4377588 2.29e-02 germline untested 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38931578G>C;NG_008866.1:g.12239G>C;NM_000540.2:c.165+74G>C;NM_001042723.1:c.165+74G>C 52075601 2304145 NT_011109.15_11199796 2.29e-02 germline untested 2006.03.29 2007.08.14 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931578G>C;NG_008866.1:g.12239G>C;NM_000540.2:c.165+74G>C;NM_001042723.1:c.165+74G>C 340454275 2304145 20100804_snps_12097816_chr19_38931578 2.29e-02 unknown untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.165+74G>C NC_000019.9:g.38931578G>C;NG_008866.1:g.12239G>C;NM_000540.2:c.165+74G>C;NM_001042723.1:c.165+74G>C 475871418 2304145 RYR1_00332 2.29e-02 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931640A>G;NG_008866.1:g.12301A>G;NM_000540.2:c.165+136A>G;NM_001042723.1:c.165+136A>G 340454276 149233952 20100804_snps_12097817_chr19_38931640 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 3250960 2304146 IMS-JST061045 1.64e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 66806835 2304146 HumanHap300v1.1_rs2304146 1.64e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 67245111 2304146 HumanHap550v1.1_rs2304146 1.64e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 67642120 2304146 HumanHap650Yv1.0_rs2304146 1.64e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 84030348 2304146 KHS607125 1.64e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 103437696 2304146 BGI_rs41344549 1.64e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 208502378 2304146 BCM_CMT_1011-3125147 1.64e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 237674054 2304146 pilot_1_CEU_7278683_chr19_43623513 1.64e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 243880859 2304146 pilot_1_CHB+JPT_5765936_chr19_43623513 1.64e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38931673G>A;NG_008866.1:g.12334G>A;NM_000540.2:c.165+169G>A;NM_001042723.1:c.165+169G>A 283205813 2304146 GMI_AK_SNP_7526234 1.64e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38931743C>A;NG_008866.1:g.12404C>A;NM_000540.2:c.165+239C>A;NM_001042723.1:c.165+239C>A 203750779 111661801 BUSHMAN-chr19-43623582 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38931770G>T;NG_008866.1:g.12431G>T;NM_000540.2:c.165+266G>T;NM_001042723.1:c.165+266G>T 203750780 112299553 BUSHMAN-chr19-43623609 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38931910G>A;NG_008866.1:g.12571G>A;NM_000540.2:c.165+406G>A;NM_001042723.1:c.165+406G>A 228135508 115318608 pilot_1_YRI_9945191_chr19_43623750 1.33e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 4973195 3786828 IMS-JST143578 2.77e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 10921248 3786828 chr19.NT_011109.15_11200200 2.77e-01 2003.06.30 2003.10.10 2002.08.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 21519285 3786828 WGSA-200403-chr19.chr19.NT_011109.15_11200200 2.77e-01 2004.03.20 2004.03.20 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 78813393 3786828 Cor12878_SNV_20070510.chr19_43623822 2.77e-01 2007.10.20 2007.10.20 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 84435389 3786828 Cor18555_SNV_20070510.chr19_43623822 2.77e-01 2007.12.07 2007.12.07 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 86190679 3786828 Cor18956_SNV_20070510.chr19_43623822 2.77e-01 2007.12.11 2007.12.11 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 96266929 3786828 1103691141731 2.77e-01 2008.03.26 2008.03.26 2002.08.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38931982delG;NG_008866.1:g.12643delG;NM_000540.2:c.165+478delG;NM_001042723.1:c.165+478delG 101016787 67395056 INDEL_GP36_2008a_992981_0 7.92e-02 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 115119768 3786828 NA19240_2008_12_16_3257512_chr19_43623822 2.77e-01 2008.12.19 2008.12.19 2002.08.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 142996770 3786828 ENSSNP5010697 2.77e-01 2009.06.05 2009.10.16 2002.08.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 203750781 3786828 BUSHMAN-chr19-43623821 2.77e-01 2010.03.09 2010.03.09 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 228135509 3786828 pilot_1_YRI_9945192_chr19_43623822 2.77e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 237674055 3786828 pilot_1_CEU_7278684_chr19_43623822 2.77e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 255668013 3786828 SNP49548_19_43623822 2.77e-01 2010.08.20 2010.08.20 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 283205814 3786828 GMI_AK_SNP_7526235 2.77e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 292248434 3786828 SNP_1754792_chr19_43623822 2.77e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 483611091 3786828 HumanOmni2.5-4v1_D_kgp5821662-0_T_R_1816261975 2.77e-01 2012.02.02 2012.02.02 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38931982G>T;NG_008866.1:g.12643G>T;NM_000540.2:c.165+478G>T;NM_001042723.1:c.165+478G>T 483825858 3786828 HumanOmni2.5-4v1_B_SNP19-43623822-0_T_R_1647497966 2.77e-01 2012.02.03 2012.02.03 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931982delG;NG_008866.1:g.12643delG;NM_000540.2:c.165+478delG;NM_001042723.1:c.165+478delG 499576214 67395056 20110316_indels_chr19_38931981_38931981 7.92e-02 2012.03.20 2012.03.20 2009.02.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38931989A>T;NG_008866.1:g.12650A>T;NM_000540.2:c.165+485A>T;NM_001042723.1:c.165+485A>T 465586565 181180474 20101123_snps_11753795_chr19_38931989 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38932041G>C;NG_008866.1:g.12702G>C;NM_000540.2:c.165+537G>C;NM_001042723.1:c.165+537G>C 96305656 71356806 1103691141729 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38932119A>G;NG_008866.1:g.12780A>G;NM_000540.2:c.165+615A>G;NM_001042723.1:c.165+615A>G 208499956 113213809 BCM_CMT_1011-3124274 1.60e-02 2010.03.19 2010.03.19 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38932119A>G;NG_008866.1:g.12780A>G;NM_000540.2:c.165+615A>G;NM_001042723.1:c.165+615A>G 237674056 113213809 pilot_1_CEU_7278685_chr19_43623959 1.60e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38932157C>T;NG_008866.1:g.12818C>T;NM_000540.2:c.165+653C>T;NM_001042723.1:c.165+653C>T 243880860 116890479 pilot_1_CHB+JPT_5765937_chr19_43623997 1.92e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38932195G>A;NG_008866.1:g.12856G>A;NM_000540.2:c.165+691G>A;NM_001042723.1:c.165+691G>A 465586566 186705654 20101123_snps_11753796_chr19_38932195 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.38932211G>C;NG_008866.1:g.12872G>C;NM_000540.2:c.165+707G>C;NM_001042723.1:c.165+707G>C 11334273 7507369 chr19.NT_011109.15_11200429 2003.07.03 2003.10.10 2003.07.11 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 21519687 12975212 WGSA-200403-chr19.chr19.NT_011109.15_11200431 8.97e-02 2004.03.20 2004.03.20 2004.04.05 2011.09.09 137 ABI 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 44172012 12975212 hCV7821798 8.97e-02 2005.07.18 2005.07.18 2004.04.05 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 132762361 12975212 ENSSNP1527835 8.97e-02 2009.05.12 2009.10.15 2004.04.05 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 203750782 12975212 BUSHMAN-chr19-43624052 8.97e-02 2010.03.09 2010.03.09 2004.04.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 228135510 12975212 pilot_1_YRI_9945193_chr19_43624053 8.97e-02 2010.04.22 2010.04.22 2004.04.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38932213C>T;NG_008866.1:g.12874C>T;NM_000540.2:c.165+709C>T;NM_001042723.1:c.165+709C>T 243880861 12975212 pilot_1_CHB+JPT_5765938_chr19_43624053 8.97e-02 2010.05.01 2010.05.01 2004.04.05 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38932263G>T;NG_008866.1:g.12924G>T;NM_000540.2:c.166-726G>T;NM_001042723.1:c.166-726G>T 117702456 73930576 NA18507_000043822_NCBI36.1_chr19_43624103 4.81e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932263G>T;NG_008866.1:g.12924G>T;NM_000540.2:c.166-726G>T;NM_001042723.1:c.166-726G>T 228135511 73930576 pilot_1_YRI_9945194_chr19_43624103 4.81e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932263G>T;NG_008866.1:g.12924G>T;NM_000540.2:c.166-726G>T;NM_001042723.1:c.166-726G>T 237674057 73930576 pilot_1_CEU_7278686_chr19_43624103 4.81e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38932284_38932308del25;NG_008866.1:g.12945_12969del25;NM_000540.2:c.166-705_166-681del25;NM_001042723.1:c.166-705_166-681del25 101110165 72107810 INDEL_GP36_2008a_2697762_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38932307G>A;NG_008866.1:g.12968G>A;NM_000540.2:c.166-682G>A;NM_001042723.1:c.166-682G>A 228135512 76562947 pilot_1_YRI_9945195_chr19_43624147 1.74e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38932378_38932379insC;NG_008866.1:g.13039_13040insC;NM_000540.2:c.166-611_166-610insC;NM_001042723.1:c.166-611_166-610insC 499576218 200983509 20110316_indels_chr19_38932378_38932379 1.14e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38932379G>C;NG_008866.1:g.13040G>C;NM_000540.2:c.166-610G>C;NM_001042723.1:c.166-610G>C 169705641 79536730 NA19240_36_chr19_43624219 6.64e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38932379G>C;NG_008866.1:g.13040G>C;NM_000540.2:c.166-610G>C;NM_001042723.1:c.166-610G>C 203750783 79536730 BUSHMAN-chr19-43624218 6.64e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932379G>C;NG_008866.1:g.13040G>C;NM_000540.2:c.166-610G>C;NM_001042723.1:c.166-610G>C 228135513 79536730 pilot_1_YRI_9945196_chr19_43624219 6.64e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932379G>C;NG_008866.1:g.13040G>C;NM_000540.2:c.166-610G>C;NM_001042723.1:c.166-610G>C 243880862 79536730 pilot_1_CHB+JPT_5765939_chr19_43624219 6.64e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38932379G>C;NG_008866.1:g.13040G>C;NM_000540.2:c.166-610G>C;NM_001042723.1:c.166-610G>C 283205815 79536730 GMI_AK_SNP_7526236 6.64e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 1321502 892053 TSC0163198 3.61e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 14695678 892053 chr19.NT_011109.15_11200604 3.61e-01 2003.11.10 2003.11.22 2000.10.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 21520630 892053 WGSA-200403-chr19.chr19.NT_011109.15_11200604 3.61e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 SEQUENOM 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 24794990 892053 sqnm127432 3.61e-01 2004.06.18 2004.06.18 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 75020848 892053 ILMN_Human_1M_rs892053 3.61e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 84039904 892053 Cor18555_SNV_20070510.chr19_43624226 3.61e-01 2007.12.06 2007.12.06 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 86047693 892053 Cor18956_SNV_20070510.chr19_43624226 3.61e-01 2007.12.11 2007.12.11 2000.10.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 90969767 892053 JWB-1168136 3.61e-01 2008.03.01 2008.03.01 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 96266930 892053 1103691141732 3.61e-01 2008.03.26 2008.03.26 2000.10.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 103437697 892053 BGI_rs892053 3.61e-01 2008.06.06 2009.06.17 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 111365021 892053 CEU.trio.12.15.2008_3616565_chr19_43624226 3.61e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 117702458 892053 NA18507_000043823_NCBI36.1_chr19_43624226 3.61e-01 2009.01.20 2009.01.20 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 119372207 892053 KHS1534454 3.61e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 132762366 892053 ENSSNP1527836 3.61e-01 2009.05.12 2009.10.15 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 137670174 892053 ENSSNP11444262 3.61e-01 2009.05.16 2009.05.16 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 155887172 892053 GMI_SNP_103838727 3.61e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 168182364 892053 NA07022_36_chr19_43624226 3.61e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 169705655 892053 NA19240_36_chr19_43624226 3.61e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 174770029 892053 Human1M-Duov3_B_rs892053-128_B_R_1514019290 3.61e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 203750784 892053 BUSHMAN-chr19-43624225 3.61e-01 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 208508518 892053 BCM_CMT_1011-3127301 3.61e-01 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 228135514 892053 pilot_1_YRI_9945197_chr19_43624226 3.61e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 237674058 892053 pilot_1_CEU_7278687_chr19_43624226 3.61e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 243880863 892053 pilot_1_CHB+JPT_5765940_chr19_43624226 3.61e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 255668019 892053 SNP49549_19_43624226 3.61e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 283205816 892053 GMI_AK_SNP_7526237 3.61e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38932386A>C;NC_000019.9:g.38932386A>G;NG_008866.1:g.13047A>C;NG_008866.1:g.13047A>G;NM_000540.2:c.166-603A>C;NM_000540.2:c.166-603A>G;NM_001042723.1:c.166-603A>C;NM_001042723.1:c.166-603A>G 292248435 892053 SNP_1754793_chr19_43624226 3.61e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932423A>C;NG_008866.1:g.13084A>C;NM_000540.2:c.166-566A>C;NM_001042723.1:c.166-566A>C 465586567 190645477 20101123_snps_11753797_chr19_38932423 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38932520A>G;NG_008866.1:g.13181A>G;NM_000540.2:c.166-469A>G;NM_001042723.1:c.166-469A>G 465586568 180979682 20101123_snps_11753798_chr19_38932520 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38932826G>C;NG_008866.1:g.13487G>C;NM_000540.2:c.166-163G>C;NM_001042723.1:c.166-163G>C 228135515 78625999 pilot_1_YRI_9945198_chr19_43624666 4.35e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932826G>C;NG_008866.1:g.13487G>C;NM_000540.2:c.166-163G>C;NM_001042723.1:c.166-163G>C 237674059 78625999 pilot_1_CEU_7278688_chr19_43624666 4.35e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38932826G>C;NG_008866.1:g.13487G>C;NM_000540.2:c.166-163G>C;NM_001042723.1:c.166-163G>C 483661568 78625999 HumanOmni2.5-4v1_D_kgp6096572-0_T_F_1815991414 4.35e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38932826G>C;NG_008866.1:g.13487G>C;NM_000540.2:c.166-163G>C;NM_001042723.1:c.166-163G>C 483825860 78625999 HumanOmni2.5-4v1_B_SNP19-43624666-0_T_F_1622808309 4.35e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932945G>C;NG_008866.1:g.13606G>C;NM_000540.2:c.166-44G>C;NM_001042723.1:c.166-44G>C 228135516 115526671 pilot_1_YRI_9945199_chr19_43624785 1.65e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38932945G>C;NG_008866.1:g.13606G>C;NM_000540.2:c.166-44G>C;NM_001042723.1:c.166-44G>C 491157896 115526671 20110521_exome_665694_chr19_38932945 1.65e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38932951T>C;NG_008866.1:g.13612T>C;NM_000540.2:c.166-38T>C;NM_001042723.1:c.166-38T>C 137670178 75078312 ENSSNP11444263 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38933000C>T;NG_008866.1:g.13661C>T;NM_000540.2:c.177C>T;NM_001042723.1:c.177C>T;NP_000531.2:p.Pro59=;NP_001036188.1:p.Pro59= 489164318 201938317 20110521_exome_255554_chr19_38933000 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.178G>A NC_000019.9:g.38933001G>A;NG_008866.1:g.13662G>A;NM_000540.2:c.178G>A;NM_001042723.1:c.178G>A;NP_000531.2:p.Asp60Asn;NP_001036188.1:p.Asp60Asn 252444728 118192160 CCORE_61 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.178G>A NC_000019.9:g.38933001G>A;NG_008866.1:g.13662G>A;NM_000540.2:c.178G>A;NM_001042723.1:c.178G>A;NP_000531.2:p.Asp60Asn;NP_001036188.1:p.Asp60Asn 475871420 118192160 RYR1_00077 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.212C>A NC_000019.9:g.38933035C>A;NG_008866.1:g.13696C>A;NM_000540.2:c.212C>A;NM_001042723.1:c.212C>A;NP_000531.2:p.Ser71Tyr;NP_001036188.1:p.Ser71Tyr 252444681 118192113 CCORE_1 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.212C>A NC_000019.9:g.38933035C>A;NG_008866.1:g.13696C>A;NM_000540.2:c.212C>A;NM_001042723.1:c.212C>A;NP_000531.2:p.Ser71Tyr;NP_001036188.1:p.Ser71Tyr 475871421 118192113 RYR1_00265 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38933039G>T;NG_008866.1:g.13700G>T;NM_000540.2:c.216G>T;NM_001042723.1:c.216G>T;NP_000531.2:p.Leu72=;NP_001036188.1:p.Leu72= 203750785 113389877 BUSHMAN-chr19-43624878 4.60e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933039G>T;NG_008866.1:g.13700G>T;NM_000540.2:c.216G>T;NM_001042723.1:c.216G>T;NP_000531.2:p.Leu72=;NP_001036188.1:p.Leu72= 340454277 113389877 20100804_snps_12097818_chr19_38933039 4.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38933039G>T;NG_008866.1:g.13700G>T;NM_000540.2:c.216G>T;NM_001042723.1:c.216G>T;NP_000531.2:p.Leu72=;NP_001036188.1:p.Leu72= 342496359 113389877 ESP2500-chr19-38933039 4.60e-03 2011.03.27 2011.03.27 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933039G>T;NG_008866.1:g.13700G>T;NM_000540.2:c.216G>T;NM_001042723.1:c.216G>T;NP_000531.2:p.Leu72=;NP_001036188.1:p.Leu72= 491157897 113389877 20110521_exome_665695_chr19_38933039 4.60e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933074C>T;NG_008866.1:g.13735C>T;NM_000540.2:c.251C>T;NM_001042723.1:c.251C>T;NP_000531.2:p.Thr84Met;NP_001036188.1:p.Thr84Met 465586569 186983396 20101123_snps_11753799_chr19_38933074 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933074C>T;NG_008866.1:g.13735C>T;NM_000540.2:c.251C>T;NM_001042723.1:c.251C>T;NP_000531.2:p.Thr84Met;NP_001036188.1:p.Thr84Met 491157898 186983396 20110521_exome_665696_chr19_38933074 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933087C>T;NG_008866.1:g.13748C>T;NM_000540.2:c.264C>T;NM_001042723.1:c.264C>T;NP_000531.2:p.Gly88=;NP_001036188.1:p.Gly88= 465586570 190919088 20101123_snps_11753800_chr19_38933087 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933087C>T;NG_008866.1:g.13748C>T;NM_000540.2:c.264C>T;NM_001042723.1:c.264C>T;NP_000531.2:p.Gly88=;NP_001036188.1:p.Gly88= 491157899 190919088 20110521_exome_665697_chr19_38933087 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38933087C>T;NG_008866.1:g.13748C>T;NM_000540.2:c.264C>T;NM_001042723.1:c.264C>T;NP_000531.2:p.Gly88=;NP_001036188.1:p.Gly88= 491766117 190919088 SNV-chr19-43624927 5.00e-04 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 4931863 3745843 IMS-JST097340 1.64e-01 unknown untested 2002.08.01 2003.10.10 2002.08.28 2013.01.31 137 ILLUMINA 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 160635331 3745843 HumanOmni1-Quad_v1-0_B_rs3745843-128_T_F_1568045401 1.64e-01 germline untested 2009.08.06 2009.10.04 2002.08.28 2013.01.31 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 208527603 3745843 BCM_CMT_1011-3133878 1.64e-01 germline untested 2010.03.19 2010.03.19 2002.08.28 2013.01.31 137 1000GENOMES 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 228135517 3745843 pilot_1_YRI_9945200_chr19_43624960 1.64e-01 germline untested 2010.04.22 2010.04.22 2002.08.28 2013.01.31 137 1000GENOMES 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 237674060 3745843 pilot_1_CEU_7278689_chr19_43624960 1.64e-01 unknown untested 2010.05.01 2010.05.01 2002.08.28 2013.01.31 137 1000GENOMES 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 243880865 3745843 pilot_1_CHB+JPT_5765942_chr19_43624960 1.64e-01 unknown untested 2010.05.01 2010.05.01 2002.08.28 2013.01.31 137 GMI 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 283205817 3745843 GMI_AK_SNP_7526238 1.64e-01 unknown untested 2010.12.16 2010.12.16 2002.08.28 2013.01.31 137 LUMC-LOVD 6261 NM_000540.2:c.270+27G>A NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 475871419 3745843 RYR1_00329 1.64e-01 unknown untested 2011.11.25 2011.11.25 2002.08.28 2013.01.31 137 ILLUMINA 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 480811936 3745843 HumanOmni2.5-4v1_B_rs3745843-128_T_F_1773842541 1.64e-01 germline untested 2012.01.31 2012.01.31 2002.08.28 2013.01.31 137 ILLUMINA 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 480827550 3745843 HumanOmniExpress-12v1_C_rs3745843-131_T_F_1858032696 1.64e-01 germline untested 2012.01.31 2012.01.31 2002.08.28 2013.01.31 137 ILLUMINA 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 481756139 3745843 HumanOmni1-Quad_v1-0_C_rs3745843-131_T_F_1865611235 1.64e-01 germline untested 2012.02.01 2012.02.01 2002.08.28 2013.01.31 137 ILLUMINA 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 485200757 3745843 HumanOmni2.5-4v1_D_rs3745843-131_T_F_1858032696 1.64e-01 germline untested 2012.02.04 2012.02.04 2002.08.28 2013.01.31 137 1000GENOMES 6261 NC_000019.9:g.38933120G>A;NG_008866.1:g.13781G>A;NM_000540.2:c.270+27G>A;NM_001042723.1:c.270+27G>A 491157900 3745843 20110521_exome_665698_chr19_38933120 1.64e-01 unknown untested 2012.02.22 2012.02.22 2002.08.28 2013.01.31 137 1000GENOMES 6261 NC_000019.9:g.38933235C>A;NG_008866.1:g.13896C>A;NM_000540.2:c.270+142C>A;NM_001042723.1:c.270+142C>A 465586571 183420213 20101123_snps_11753801_chr19_38933235 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933238C>A;NG_008866.1:g.13899C>A;NM_000540.2:c.270+145C>A;NM_001042723.1:c.270+145C>A 465586572 185861623 20101123_snps_11753802_chr19_38933238 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933272G>A;NG_008866.1:g.13933G>A;NM_000540.2:c.270+179G>A;NM_001042723.1:c.270+179G>A 465586573 190616156 20101123_snps_11753803_chr19_38933272 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933415A>C;NG_008866.1:g.14076A>C;NM_000540.2:c.270+322A>C;NM_001042723.1:c.270+322A>C 115119788 73552302 NA19240_2008_12_16_3257514_chr19_43625255 4.72e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38933415A>C;NG_008866.1:g.14076A>C;NM_000540.2:c.270+322A>C;NM_001042723.1:c.270+322A>C 169705672 73552302 NA19240_36_chr19_43625255 4.72e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933415A>C;NG_008866.1:g.14076A>C;NM_000540.2:c.270+322A>C;NM_001042723.1:c.270+322A>C 228135518 73552302 pilot_1_YRI_9945201_chr19_43625255 4.72e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933433G>A;NG_008866.1:g.14094G>A;NM_000540.2:c.270+340G>A;NM_001042723.1:c.270+340G>A 465586574 182934778 20101123_snps_11753804_chr19_38933433 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38933454C>T;NG_008866.1:g.14115C>T;NM_000540.2:c.270+361C>T;NM_001042723.1:c.270+361C>T 208490065 78161631 BCM_CMT_1011-3120811 1.47e-01 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933454C>T;NG_008866.1:g.14115C>T;NM_000540.2:c.270+361C>T;NM_001042723.1:c.270+361C>T 237674061 78161631 pilot_1_CEU_7278690_chr19_43625294 1.47e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933454C>T;NG_008866.1:g.14115C>T;NM_000540.2:c.270+361C>T;NM_001042723.1:c.270+361C>T 243880866 78161631 pilot_1_CHB+JPT_5765943_chr19_43625294 1.47e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38933454C>T;NG_008866.1:g.14115C>T;NM_000540.2:c.270+361C>T;NM_001042723.1:c.270+361C>T 283205818 78161631 GMI_AK_SNP_7526239 1.47e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933455G>A;NG_008866.1:g.14116G>A;NM_000540.2:c.270+362G>A;NM_001042723.1:c.270+362G>A 465586575 188334988 20101123_snps_11753805_chr19_38933455 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933549G>A;NG_008866.1:g.14210G>A;NM_000540.2:c.270+456G>A;NM_001042723.1:c.270+456G>A 465586576 192213655 20101123_snps_11753806_chr19_38933549 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933585G>C;NG_008866.1:g.14246G>C;NM_000540.2:c.270+492G>C;NM_001042723.1:c.270+492G>C 228135519 115367056 pilot_1_YRI_9945202_chr19_43625425 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38933611A>G;NG_008866.1:g.14272A>G;NM_000540.2:c.270+518A>G;NM_001042723.1:c.270+518A>G 115119792 73554203 NA19240_2008_12_16_3257515_chr19_43625451 4.67e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38933611A>G;NG_008866.1:g.14272A>G;NM_000540.2:c.270+518A>G;NM_001042723.1:c.270+518A>G 169705687 73554203 NA19240_36_chr19_43625451 4.67e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933611A>G;NG_008866.1:g.14272A>G;NM_000540.2:c.270+518A>G;NM_001042723.1:c.270+518A>G 228135520 73554203 pilot_1_YRI_9945203_chr19_43625451 4.67e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933611A>G;NG_008866.1:g.14272A>G;NM_000540.2:c.270+518A>G;NM_001042723.1:c.270+518A>G 243880867 73554203 pilot_1_CHB+JPT_5765944_chr19_43625451 4.67e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38933626T>C;NG_008866.1:g.14287T>C;NM_000540.2:c.270+533T>C;NM_001042723.1:c.270+533T>C 10931542 7253096 chr19.NT_011109.15_11201844 6.90e-03 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933626T>C;NG_008866.1:g.14287T>C;NM_000540.2:c.270+533T>C;NM_001042723.1:c.270+533T>C 340454278 7253096 20100804_snps_12097819_chr19_38933626 6.90e-03 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933648C>T;NG_008866.1:g.14309C>T;NM_000540.2:c.271-550C>T;NM_001042723.1:c.271-550C>T 228135521 114928933 pilot_1_YRI_9945204_chr19_43625488 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38933673G>A;NG_008866.1:g.14334G>A;NM_000540.2:c.271-525G>A;NM_001042723.1:c.271-525G>A 340454279 142425284 20100804_snps_12097820_chr19_38933673 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38933687C>T;NG_008866.1:g.14348C>T;NM_000540.2:c.271-511C>T;NM_001042723.1:c.271-511C>T 465586577 182864794 20101123_snps_11753807_chr19_38933687 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38933688T>C;NG_008866.1:g.14349T>C;NM_000540.2:c.271-510T>C;NM_001042723.1:c.271-510T>C 203750786 78121757 BUSHMAN-chr19-43625527 2.70e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933688T>C;NG_008866.1:g.14349T>C;NM_000540.2:c.271-510T>C;NM_001042723.1:c.271-510T>C 228135522 78121757 pilot_1_YRI_9945205_chr19_43625528 2.70e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933801C>T;NG_008866.1:g.14462C>T;NM_000540.2:c.271-397C>T;NM_001042723.1:c.271-397C>T 465586578 187728850 20101123_snps_11753808_chr19_38933801 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38933816G>T;NG_008866.1:g.14477G>T;NM_000540.2:c.271-382G>T;NM_001042723.1:c.271-382G>T 228135523 74519965 pilot_1_YRI_9945206_chr19_43625656 3.62e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38933850A>T;NG_008866.1:g.14511A>T;NM_000540.2:c.271-348A>T;NM_001042723.1:c.271-348A>T 203750787 113946075 BUSHMAN-chr19-43625689 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38933855G>A;NG_008866.1:g.14516G>A;NM_000540.2:c.271-343G>A;NM_001042723.1:c.271-343G>A 20070714 12610957 CSHL-HuFF-200402.chr19.NT_011109.15_11202073 3.80e-02 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933855G>A;NG_008866.1:g.14516G>A;NM_000540.2:c.271-343G>A;NM_001042723.1:c.271-343G>A 243880868 12610957 pilot_1_CHB+JPT_5765945_chr19_43625695 3.80e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38933855G>A;NG_008866.1:g.14516G>A;NM_000540.2:c.271-343G>A;NM_001042723.1:c.271-343G>A 283205819 12610957 GMI_AK_SNP_7526240 3.80e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 23763058 16972602 afd3509132 4.76e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 66242812 16972602 SNP_A-4272376 4.76e-02 2006.10.28 2008.03.31 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 76388402 16972602 AFFY_6_1M_SNP_A-4272376 4.76e-02 2007.08.30 2007.08.30 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 83131429 16972602 KHS401435 4.76e-02 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 115119804 16972602 NA19240_2008_12_16_3257516_chr19_43625745 4.76e-02 2008.12.19 2008.12.19 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 160404867 16972602 HumanOmni1-Quad_v1-0_B_rs16972602-128_B_R_1586382827 4.76e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 169705702 16972602 NA19240_36_chr19_43625745 4.76e-02 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 173448472 16972602 GenomeWideSNP_5_SNP_A-4272376 4.76e-02 2009.10.03 2009.10.03 2004.09.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 203750788 16972602 BUSHMAN-chr19-43625744 4.76e-02 2010.03.09 2010.03.09 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 228135524 16972602 pilot_1_YRI_9945207_chr19_43625745 4.76e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 243880869 16972602 pilot_1_CHB+JPT_5765946_chr19_43625745 4.76e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38933905A>G;NG_008866.1:g.14566A>G;NM_000540.2:c.271-293A>G;NM_001042723.1:c.271-293A>G 480836422 16972602 HumanOmni1-Quad_v1-0_C_rs16972602-131_B_R_1863387207 4.76e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 115119811 73554209 NA19240_2008_12_16_3257517_chr19_43625890 4.76e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 169705710 73554209 NA19240_36_chr19_43625890 4.76e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 203750789 73554209 BUSHMAN-chr19-43625889 4.76e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 228135525 73554209 pilot_1_YRI_9945208_chr19_43625890 4.76e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 243880870 73554209 pilot_1_CHB+JPT_5765947_chr19_43625890 4.76e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 482349871 73554209 HumanOmni2.5-4v1_D_kgp21518162-0_B_R_1844388600 4.76e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38934050A>G;NG_008866.1:g.14711A>G;NM_000540.2:c.271-148A>G;NM_001042723.1:c.271-148A>G 483825862 73554209 HumanOmni2.5-4v1_B_SNP19-43625890-0_B_R_1647578072 4.76e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934191C>G;NG_008866.1:g.14852C>G;NM_000540.2:c.271-7C>G;NM_001042723.1:c.271-7C>G 465586579 192495718 20101123_snps_11753809_chr19_38934191 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934191C>G;NG_008866.1:g.14852C>G;NM_000540.2:c.271-7C>G;NM_001042723.1:c.271-7C>G 491157901 192495718 20110521_exome_665699_chr19_38934191 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38934209C>T;NG_008866.1:g.14870C>T;NM_000540.2:c.282C>T;NM_001042723.1:c.282C>T;NP_000531.2:p.Gly94=;NP_001036188.1:p.Gly94= 342496360 139629035 ESP2500-chr19-38934209 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934209C>T;NG_008866.1:g.14870C>T;NM_000540.2:c.282C>T;NM_001042723.1:c.282C>T;NP_000531.2:p.Gly94=;NP_001036188.1:p.Gly94= 489164320 139629035 20110521_exome_255555_chr19_38934209 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38934224G>A;NG_008866.1:g.14885G>A;NM_000540.2:c.297G>A;NM_001042723.1:c.297G>A;NP_000531.2:p.Thr99=;NP_001036188.1:p.Thr99= 342496361 144241486 ESP2500-chr19-38934224 1.40e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934224G>A;NG_008866.1:g.14885G>A;NM_000540.2:c.297G>A;NM_001042723.1:c.297G>A;NP_000531.2:p.Thr99=;NP_001036188.1:p.Thr99= 489164322 144241486 20110521_exome_255556_chr19_38934224 1.40e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.325C>T NC_000019.9:g.38934252C>T;NG_008866.1:g.14913C>T;NM_000540.2:c.325C>T;NM_001042723.1:c.325C>T;NP_000531.2:p.Arg109Trp;NP_001036188.1:p.Arg109Trp 252444742 118192173 CCORE_82 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG109TRP NC_000019.9:g.38934252C>T;NG_008866.1:g.14913C>T;NM_000540.2:c.325C>T;NM_001042723.1:c.325C>T;NP_000531.2:p.Arg109Trp;NP_001036188.1:p.Arg109Trp 275518447 118192173 5321 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.325C>T NC_000019.9:g.38934252C>T;NG_008866.1:g.14913C>T;NM_000540.2:c.325C>T;NM_001042723.1:c.325C>T;NP_000531.2:p.Arg109Trp;NP_001036188.1:p.Arg109Trp 475871422 118192173 RYR1_00280 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38934287G>A;NG_008866.1:g.14948G>A;NM_000540.2:c.345+15G>A;NM_001042723.1:c.345+15G>A 489164324 199755207 20110521_exome_255557_chr19_38934287 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934316G>A;NG_008866.1:g.14977G>A;NM_000540.2:c.346-42G>A;NM_001042723.1:c.346-42G>A 465586580 185018130 20101123_snps_11753810_chr19_38934316 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934316G>A;NG_008866.1:g.14977G>A;NM_000540.2:c.346-42G>A;NM_001042723.1:c.346-42G>A 491157902 185018130 20110521_exome_665700_chr19_38934316 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38934388A>G;NG_008866.1:g.15049A>G;NM_000540.2:c.376A>G;NM_001042723.1:c.376A>G;NP_000531.2:p.Met126Val;NP_001036188.1:p.Met126Val 342496362 146065960 ESP2500-chr19-38934388 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38934429C>T;NG_008866.1:g.15090C>T;NM_000540.2:c.417C>T;NM_001042723.1:c.417C>T;NP_000531.2:p.Asp139=;NP_001036188.1:p.Asp139= 342496363 140004993 ESP2500-chr19-38934429 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38934430G>A;NG_008866.1:g.15091G>A;NM_000540.2:c.418G>A;NM_001042723.1:c.418G>A;NP_000531.2:p.Ala140Thr;NP_001036188.1:p.Ala140Thr 342496364 142474192 ESP2500-chr19-38934430 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38934430G>A;NG_008866.1:g.15091G>A;NM_000540.2:c.418G>A;NM_001042723.1:c.418G>A;NP_000531.2:p.Ala140Thr;NP_001036188.1:p.Ala140Thr 491546415 142474192 nonsyn_262641_chr_19_38934430 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38934575G>A;NG_008866.1:g.15236G>A;NM_000540.2:c.424+139G>A;NM_001042723.1:c.424+139G>A 203750790 113026709 BUSHMAN-chr19-43626414 7.80e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934575G>A;NG_008866.1:g.15236G>A;NM_000540.2:c.424+139G>A;NM_001042723.1:c.424+139G>A 340454280 113026709 20100804_snps_12097821_chr19_38934575 7.80e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38934593G>C;NG_008866.1:g.15254G>C;NM_000540.2:c.424+157G>C;NM_001042723.1:c.424+157G>C 203750791 111810050 BUSHMAN-chr19-43626432 8.70e-03 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38934593G>C;NG_008866.1:g.15254G>C;NM_000540.2:c.424+157G>C;NM_001042723.1:c.424+157G>C 228135526 111810050 pilot_1_YRI_9945209_chr19_43626433 8.70e-03 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38934595C>G;NG_008866.1:g.15256C>G;NM_000540.2:c.424+159C>G;NM_001042723.1:c.424+159C>G 340454281 139773017 20100804_snps_12097822_chr19_38934595 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38934603C>T;NG_008866.1:g.15264C>T;NM_000540.2:c.424+167C>T;NM_001042723.1:c.424+167C>T 243880871 117825481 pilot_1_CHB+JPT_5765948_chr19_43626443 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934700C>T;NG_008866.1:g.15361C>T;NM_000540.2:c.425-89C>T;NM_001042723.1:c.425-89C>T 340454282 144528365 20100804_snps_12097823_chr19_38934700 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38934711G>T;NG_008866.1:g.15372G>T;NM_000540.2:c.425-78G>T;NM_001042723.1:c.425-78G>T 465586581 189007010 20101123_snps_11753811_chr19_38934711 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38934770A>G;NG_008866.1:g.15431A>G;NM_000540.2:c.425-19A>G;NM_001042723.1:c.425-19A>G 465586582 193169917 20101123_snps_11753812_chr19_38934770 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934770A>G;NG_008866.1:g.15431A>G;NM_000540.2:c.425-19A>G;NM_001042723.1:c.425-19A>G 491157903 193169917 20110521_exome_665701_chr19_38934770 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38934770A>G;NG_008866.1:g.15431A>G;NM_000540.2:c.425-19A>G;NM_001042723.1:c.425-19A>G 491766118 193169917 SNV-chr19-43626610 1.40e-03 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.433T>C NC_000019.9:g.38934797T>C;NG_008866.1:g.15458T>C;NM_000540.2:c.433T>C;NM_001042723.1:c.433T>C;NP_000531.2:p.Cys145Arg;NP_001036188.1:p.Cys145Arg 252444682 118192114 CCORE_2 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38934807C>T;NG_008866.1:g.15468C>T;NM_000540.2:c.443C>T;NM_001042723.1:c.443C>T;NP_000531.2:p.Thr148Ile;NP_001036188.1:p.Thr148Ile 342496365 151325948 ESP2500-chr19-38934807 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934807C>T;NG_008866.1:g.15468C>T;NM_000540.2:c.443C>T;NM_001042723.1:c.443C>T;NP_000531.2:p.Thr148Ile;NP_001036188.1:p.Thr148Ile 465586583 151325948 20101123_snps_11753813_chr19_38934807 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38934807C>T;NG_008866.1:g.15468C>T;NM_000540.2:c.443C>T;NM_001042723.1:c.443C>T;NP_000531.2:p.Thr148Ile;NP_001036188.1:p.Thr148Ile 491157904 151325948 20110521_exome_665702_chr19_38934807 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38934807C>T;NG_008866.1:g.15468C>T;NM_000540.2:c.443C>T;NM_001042723.1:c.443C>T;NP_000531.2:p.Thr148Ile;NP_001036188.1:p.Thr148Ile 491546416 151325948 nonsyn_262642_chr_19_38934807 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.463C>A NC_000019.9:g.38934827C>A;NG_008866.1:g.15488C>A;NM_000540.2:c.463C>A;NM_001042723.1:c.463C>A;NP_000531.2:p.Gln155Lys;NP_001036188.1:p.Gln155Lys 475871423 193922750 RYR1_00117 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.467G>A NC_000019.9:g.38934831G>A;NG_008866.1:g.15492G>A;NM_000540.2:c.467G>A;NM_001042723.1:c.467G>A;NP_000531.2:p.Arg156Lys;NP_001036188.1:p.Arg156Lys 475871424 193922751 RYR1_00147 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38934835T>A;NG_008866.1:g.15496T>A;NM_000540.2:c.471T>A;NM_001042723.1:c.471T>A;NP_000531.2:p.Ser157=;NP_001036188.1:p.Ser157= 342496366 140573900 ESP2500-chr19-38934835 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.479A>G NC_000019.9:g.38934843A>G;NG_008866.1:g.15504A>G;NM_000540.2:c.479A>G;NM_001042723.1:c.479A>G;NP_000531.2:p.Glu160Gly;NP_001036188.1:p.Glu160Gly 475871425 193922752 RYR1_00078 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.487C>T NC_000019.9:g.38934851C>T;NG_008866.1:g.15512C>T;NM_000540.2:c.487C>T;NM_001042723.1:c.487C>T;NP_000531.2:p.Arg163Cys;NP_001036188.1:p.Arg163Cys 252444729 118192161 CCORE_62 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG163CYS NC_000019.9:g.38934851C>T;NG_008866.1:g.15512C>T;NM_000540.2:c.487C>T;NM_001042723.1:c.487C>T;NP_000531.2:p.Arg163Cys;NP_001036188.1:p.Arg163Cys 275518430 118192161 5299 germline;somatic pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 YSAMUELS 6261 NC_000019.8:g.43626691C>T NC_000019.9:g.38934851C>T;NG_008866.1:g.15512C>T;NM_000540.2:c.487C>T;NM_001042723.1:c.487C>T;NP_000531.2:p.Arg163Cys;NP_001036188.1:p.Arg163Cys 344941565 118192161 NC_000019.8:g.43626691C>T germline;somatic pathogenic 2011.04.05 2012.08.10 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.487C>T NC_000019.9:g.38934851C>T;NG_008866.1:g.15512C>T;NM_000540.2:c.487C>T;NM_001042723.1:c.487C>T;NP_000531.2:p.Arg163Cys;NP_001036188.1:p.Arg163Cys 475871426 118192161 RYR1_00026 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.488G>T NC_000019.9:g.38934852G>T;NG_008866.1:g.15513G>T;NM_000540.2:c.488G>T;NM_001042723.1:c.488G>T;NP_000531.2:p.Arg163Leu;NP_001036188.1:p.Arg163Leu 475871427 193922753 RYR1_00079 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38934853C>T;NG_008866.1:g.15514C>T;NM_000540.2:c.489C>T;NM_001042723.1:c.489C>T;NP_000531.2:p.Arg163=;NP_001036188.1:p.Arg163= 491766119 199855033 SNV-chr19-43626693 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.493G>A NC_000019.9:g.38934857G>A;NG_008866.1:g.15518G>A;NM_000540.2:c.493G>A;NM_001042723.1:c.493G>A;NP_000531.2:p.Gly165Arg;NP_001036188.1:p.Gly165Arg 475871428 193922754 RYR1_00184 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.496G>A NC_000019.9:g.38934860G>A;NG_008866.1:g.15521G>A;NM_000540.2:c.496G>A;NM_001042723.1:c.496G>A;NP_000531.2:p.Asp166Asn;NP_001036188.1:p.Asp166Asn 475871429 193922755 RYR1_00185 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.497A>G NC_000019.9:g.38934861A>G;NG_008866.1:g.15522A>G;NM_000540.2:c.497A>G;NM_001042723.1:c.497A>G;NP_000531.2:p.Asp166Gly;NP_001036188.1:p.Asp166Gly 475871430 193922756 RYR1_00118 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38934866A>G;NG_008866.1:g.15527A>G;NM_000540.2:c.502A>G;NM_001042723.1:c.502A>G;NP_000531.2:p.Ile168Val;NP_001036188.1:p.Ile168Val 489164326 201432446 20110521_exome_255558_chr19_38934866 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.529C>T NC_000019.9:g.38934893C>T;NG_008866.1:g.15554C>T;NM_000540.2:c.529C>T;NM_001042723.1:c.529C>T;NP_000531.2:p.Arg177Cys;NP_001036188.1:p.Arg177Cys 475871431 193922757 RYR1_00080 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.533A>T NC_000019.9:g.38934897A>T;NG_008866.1:g.15558A>T;NM_000540.2:c.533A>T;NM_001042723.1:c.533A>T;NP_000531.2:p.Tyr178Phe;NP_001036188.1:p.Tyr178Phe 475871432 193922758 RYR1_00186 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38934965C>G;NG_008866.1:g.15626C>G;NM_000540.2:c.537+64C>G;NM_001042723.1:c.537+64C>G 340454283 146625212 20100804_snps_12097824_chr19_38934965 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38935064C>T;NG_008866.1:g.15725C>T;NM_000540.2:c.538-160C>T;NM_001042723.1:c.538-160C>T 228135527 76435553 pilot_1_YRI_9945210_chr19_43626904 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38935175C>T;NG_008866.1:g.15836C>T;NM_000540.2:c.538-49C>T;NM_001042723.1:c.538-49C>T 465586584 189845935 20101123_snps_11753814_chr19_38935175 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935175C>T;NG_008866.1:g.15836C>T;NM_000540.2:c.538-49C>T;NM_001042723.1:c.538-49C>T 491157905 189845935 20110521_exome_665703_chr19_38935175 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935176G>A;NG_008866.1:g.15837G>A;NM_000540.2:c.538-48G>A;NM_001042723.1:c.538-48G>A 489164328 200509864 20110521_exome_255559_chr19_38935176 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38935184C>T;NG_008866.1:g.15845C>T;NM_000540.2:c.538-40C>T;NM_001042723.1:c.538-40C>T 491766120 201191586 SNV-chr19-43627024 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935205G>A;NG_008866.1:g.15866G>A;NM_000540.2:c.538-19G>A;NM_001042723.1:c.538-19G>A 489164330 200085496 20110521_exome_255560_chr19_38935205 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38935234C>T;NG_008866.1:g.15895C>T;NM_000540.2:c.548C>T;NM_001042723.1:c.548C>T;NP_000531.2:p.Thr183Ile;NP_001036188.1:p.Thr183Ile 342496367 150038701 ESP2500-chr19-38935234 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38935235C>T;NG_008866.1:g.15896C>T;NM_000540.2:c.549C>T;NM_001042723.1:c.549C>T;NP_000531.2:p.Thr183=;NP_001036188.1:p.Thr183= 342496368 147707866 ESP2500-chr19-38935235 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38935240G>A;NG_008866.1:g.15901G>A;NM_000540.2:c.554G>A;NM_001042723.1:c.554G>A;NP_000531.2:p.Ser185Asn;NP_001036188.1:p.Ser185Asn 465586585 180699273 20101123_snps_11753815_chr19_38935240 1.88e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935240G>A;NG_008866.1:g.15901G>A;NM_000540.2:c.554G>A;NM_001042723.1:c.554G>A;NP_000531.2:p.Ser185Asn;NP_001036188.1:p.Ser185Asn 491157906 180699273 20110521_exome_665704_chr19_38935240 1.88e-02 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 1321503 892054 TSC0163199 4.60e-03 germline untested 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 6271435 892054 NT_011233.10_1090255 4.60e-03 germline untested 2003.01.13 2003.10.10 2000.10.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 23763061 892054 afd4231003 4.60e-03 germline untested 2004.08.20 2004.09.13 2000.10.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 44162246 892054 hCV8709874 4.60e-03 unknown untested 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 75103799 892054 ILMN_Human_1M_rs892054 4.60e-03 germline untested 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 119372208 892054 KHS1534455 4.60e-03 germline untested 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 174770032 892054 Human1M-Duov3_B_rs892054-128_T_R_1514088232 4.60e-03 germline untested 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 340454285 892054 20100804_snps_12097826_chr19_38935259 4.60e-03 germline untested 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 342496369 892054 ESP2500-chr19-38935259 4.60e-03 germline untested 2011.03.27 2011.03.27 2000.10.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.573C>T NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 475871433 892054 RYR1_00049 4.60e-03 germline untested 2011.11.25 2011.11.25 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 491157907 892054 20110521_exome_665705_chr19_38935259 4.60e-03 germline untested 2012.02.22 2012.02.22 2000.10.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38935259C>T;NG_008866.1:g.15920C>T;NM_000540.2:c.573C>T;NM_001042723.1:c.573C>T;NP_000531.2:p.Asp191=;NP_001036188.1:p.Asp191= 491766121 892054 SNV-chr19-43627099 4.60e-03 germline untested 2012.03.07 2012.03.13 2000.10.05 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 3176128 2229139 WIAF-14802 3.97e-01 germline untested 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 21555339 2229139 WGSA-200403-chr19.chr19.NT_011109.15_11203498 3.97e-01 unknown untested 2004.03.20 2004.03.20 2001.08.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 44156843 2229139 hCV16172111 3.97e-01 germline untested 2005.07.18 2005.07.18 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 74909202 2229139 ILMN_Human_1M_rs12985668 3.97e-01 unknown untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 CORNELL 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 86240193 2229139 hCV16172111 3.97e-01 unknown untested 2008.01.21 2010.09.29 2001.08.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 90969770 2229139 JWB-1168137 3.97e-01 germline untested 2008.03.01 2008.03.01 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 96266931 2229139 1103691141733 3.97e-01 germline untested 2008.03.26 2008.03.26 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 103437698 2229139 BGI_rs12985668 3.97e-01 germline untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 111365030 2229139 CEU.trio.12.15.2008_3616566_chr19_43627120 3.97e-01 germline untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 115119820 2229139 NA19240_2008_12_16_3257518_chr19_43627120 3.97e-01 germline untested 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 119820638 2229139 KHS1860851 3.97e-01 unknown untested 2009.02.05 2009.02.05 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 137670181 2229139 ENSSNP6861321 3.97e-01 unknown untested 2009.05.16 2009.05.16 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 143256565 2229139 ENSSNP4038903 3.97e-01 unknown untested 2009.06.06 2009.10.19 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 155887183 2229139 GMI_SNP_135259917 3.97e-01 germline untested 2009.06.24 2009.06.24 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 159739614 2229139 RYR1-43627120 3.97e-01 germline untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 168182377 2229139 NA07022_36_chr19_43627120 3.97e-01 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 169705730 2229139 NA19240_36_chr19_43627120 3.97e-01 germline untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 171753931 2229139 NA20431_36_chr19_43627120 3.97e-01 germline untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 172296270 2229139 Human1M-Duov3_B_rs12985668-128_T_F_1513926059 3.97e-01 germline untested 2009.10.02 2009.10.02 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 203750792 2229139 BUSHMAN-chr19-43627119 3.97e-01 unknown untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 208450073 2229139 BCM_CMT_1011-3107476 3.97e-01 unknown untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 228135529 2229139 pilot_1_YRI_9945212_chr19_43627120 3.97e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 237674062 2229139 pilot_1_CEU_7278691_chr19_43627120 3.97e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 243880872 2229139 pilot_1_CHB+JPT_5765949_chr19_43627120 3.97e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 255668022 2229139 SNP49550_19_43627120 3.97e-01 germline untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 283205820 2229139 GMI_AK_SNP_7526241 3.97e-01 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 292248436 2229139 SNP_1754794_chr19_43627120 3.97e-01 unknown untested 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 342496370 2229139 ESP2500-chr19-38935280 3.97e-01 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.594A>G NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 475871434 2229139 RYR1_00050 3.97e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 483825866 2229139 HumanOmni2.5-4v1_B_SNP19-43627120-0_T_F_1622657555 3.97e-01 unknown untested 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 484147256 2229139 HumanOmni2.5-4v1_D_kgp8754675-0_T_F_1816388085 3.97e-01 unknown untested 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 491157908 2229139 20110521_exome_665706_chr19_38935280 3.97e-01 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38935280A>G;NG_008866.1:g.15941A>G;NM_000540.2:c.594A>G;NM_001042723.1:c.594A>G;NP_000531.2:p.Leu198=;NP_001036188.1:p.Leu198= 491766122 2229139 SNV-chr19-43627120 3.97e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935300G>C;NG_008866.1:g.15961G>C;NM_000540.2:c.614G>C;NM_001042723.1:c.614G>C;NP_000531.2:p.Cys205Ser;NP_001036188.1:p.Cys205Ser 489164332 201834803 20110521_exome_255561_chr19_38935300 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38935300G>C;NG_008866.1:g.15961G>C;NM_000540.2:c.614G>C;NM_001042723.1:c.614G>C;NP_000531.2:p.Cys205Ser;NP_001036188.1:p.Cys205Ser 491546417 201834803 nonsyn_262643_chr_19_38935300 0 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38935326C>T;NG_008866.1:g.15987C>T;NM_000540.2:c.631+9C>T;NM_001042723.1:c.631+9C>T 491766123 201136419 SNV-chr19-43627166 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935339C>A;NG_008866.1:g.16000C>A;NM_000540.2:c.631+22C>A;NM_001042723.1:c.631+22C>A 489164334 201046737 20110521_exome_255562_chr19_38935339 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ABI 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 40977212 35018208 hCV32823810 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 BL 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 256205619 35018208 SNP3808_19_43627190 2010.08.20 2010.08.20 2006.03.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 289387880 35018208 GMI_AK_INDEL_1065337 2010.12.30 2011.12.30 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 327903734 35018208 JPTCHB_chr19_43627190_indel 2011.03.13 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 328032171 35018208 CEU_chr19_43627190_indel 2011.03.13 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935350_38935351insC;NG_008866.1:g.16011_16012insC;NM_000540.2:c.631+33_631+34insC;NM_001042723.1:c.631+33_631+34insC 328276216 35018208 YRI_chr19_43627190_indel 2011.03.13 2011.04.04 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38935351_38935352insC;NG_008866.1:g.16012_16013insC;NM_000540.2:c.631+34_631+35insC;NM_001042723.1:c.631+34_631+35insC 95728322 67128742 1104685411581 2008.03.23 2008.12.03 2009.02.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38935351_38935352insC;NG_008866.1:g.16012_16013insC;NM_000540.2:c.631+34_631+35insC;NM_001042723.1:c.631+34_631+35insC 102304194 67128742 INDEL_GP36_2008a_1514093_0 2008.05.18 2008.05.18 2009.02.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38935351_38935352insC;NG_008866.1:g.16012_16013insC;NM_000540.2:c.631+34_631+35insC;NM_001042723.1:c.631+34_631+35insC 102304196 67128742 INDEL_GP36_2008a_1514093_1 2008.05.18 2008.05.18 2009.02.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38935351_38935352insC;NG_008866.1:g.16012_16013insC;NM_000540.2:c.631+34_631+35insC;NM_001042723.1:c.631+34_631+35insC 288525667 67128742 GMI_NA10851_INDEL_296294 2010.12.22 2010.12.22 2009.02.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38935351_38935352insC;NG_008866.1:g.16012_16013insC;NM_000540.2:c.631+34_631+35insC;NM_001042723.1:c.631+34_631+35insC 294962516 67128742 DIP_400220_chr19_43627196 2011.01.22 2011.01.22 2009.02.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 85707878 57132842 Cor19129_SNV_20070510.chr19_43627206 4.99e-02 2007.12.10 2007.12.10 2007.12.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 203750793 57132842 BUSHMAN-chr19-43627205 4.99e-02 2010.03.09 2010.03.09 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 228135530 57132842 pilot_1_YRI_9945213_chr19_43627206 4.99e-02 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 237674063 57132842 pilot_1_CEU_7278692_chr19_43627206 4.99e-02 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 483825868 57132842 HumanOmni2.5-4v1_B_SNP19-43627206-0_T_R_1628560795 4.99e-02 2012.02.03 2012.02.03 2007.12.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 484325134 57132842 HumanOmni2.5-4v1_D_kgp9718908-0_T_R_1816245131 4.99e-02 2012.02.03 2012.02.03 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935366C>T;NG_008866.1:g.16027C>T;NM_000540.2:c.631+49C>T;NM_001042723.1:c.631+49C>T 491157909 57132842 20110521_exome_665707_chr19_38935366 4.99e-02 2012.02.22 2012.02.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935511G>A;NG_008866.1:g.16172G>A;NM_000540.2:c.631+194G>A;NM_001042723.1:c.631+194G>A 465586586 186039782 20101123_snps_11753816_chr19_38935511 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 6261 NC_000019.9:g.38935610_38935614delTTAAA;NG_008866.1:g.16271_16275delTTAAA;NM_000540.2:c.631+293_631+297delTTAAA;NM_001042723.1:c.631+293_631+297delTTAAA 14959424 10542590 INDEL_GP34_WGS_39116 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38935610_38935614delTTAAA;NG_008866.1:g.16271_16275delTTAAA;NM_000540.2:c.631+293_631+297delTTAAA;NM_001042723.1:c.631+293_631+297delTTAAA 50239651 10542590 INDEL_GP35_WGS_484008 2006.01.24 2006.01.24 2003.12.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38935610_38935614delTTAAA;NG_008866.1:g.16271_16275delTTAAA;NM_000540.2:c.631+293_631+297delTTAAA;NM_001042723.1:c.631+293_631+297delTTAAA 99765573 10542590 INDEL_GP36_2007a_354027_0 2008.05.06 2008.05.06 2003.12.05 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 16786286 11665761 CSHL-HuAA-200402.chr19.NT_011109.15_11203853 4.12e-01 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 21509392 11665761 WGSA-200403-chr19.chr19.NT_011109.15_11203853 4.12e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 78303277 11665761 Cor12878_SNV_20070510.chr19_43627475 4.12e-01 2007.10.18 2007.10.18 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 85223830 11665761 Cor19129_SNV_20070510.chr19_43627475 4.12e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 90969772 11665761 JWB-1168138 4.12e-01 2008.03.01 2008.03.01 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 96266932 11665761 1103691141734 4.12e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 136267662 11665761 ENSSNP1527839 4.12e-01 2009.05.15 2009.10.15 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 137670183 11665761 ENSSNP6269486 4.12e-01 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 155887189 11665761 GMI_SNP_135283460 4.12e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 168182392 11665761 NA07022_36_chr19_43627475 4.12e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 169705746 11665761 NA19240_36_chr19_43627475 4.12e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 171753942 11665761 NA20431_36_chr19_43627475 4.12e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 255668027 11665761 SNP49551_19_43627475 4.12e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 283205821 11665761 GMI_AK_SNP_7526242 4.12e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 292248437 11665761 SNP_1754795_chr19_43627475 4.12e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935635G>A;NG_008866.1:g.16296G>A;NM_000540.2:c.631+318G>A;NM_001042723.1:c.631+318G>A 340454286 11665761 20100804_snps_12097827_chr19_38935635 4.12e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935663G>A;NG_008866.1:g.16324G>A;NM_000540.2:c.631+346G>A;NM_001042723.1:c.631+346G>A 340454287 148953368 20100804_snps_12097828_chr19_38935663 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38935672G>A;NG_008866.1:g.16333G>A;NM_000540.2:c.631+355G>A;NM_001042723.1:c.631+355G>A 340454288 143569504 20100804_snps_12097829_chr19_38935672 2.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38935742_38935743insA;NG_008866.1:g.16403_16404insA;NM_000540.2:c.631+425_631+426insA;NM_001042723.1:c.631+425_631+426insA 15253181 11371223 INDEL_GP34_WGS_388537 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38935743_38935744insA;NG_008866.1:g.16404_16405insA;NM_000540.2:c.631+426_631+427insA;NM_001042723.1:c.631+426_631+427insA 50239652 35895449 INDEL_GP35_WGS_484009 2006.01.24 2006.01.24 2006.03.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38935743_38935744insA;NG_008866.1:g.16404_16405insA;NM_000540.2:c.631+426_631+427insA;NM_001042723.1:c.631+426_631+427insA 99795382 35895449 INDEL_GP36_2007a_354028_0 2008.05.06 2008.05.06 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38935850C>G;NG_008866.1:g.16511C>G;NM_000540.2:c.631+533C>G;NM_001042723.1:c.631+533C>G 243880873 117500828 pilot_1_CHB+JPT_5765950_chr19_43627690 8.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38935850C>G;NG_008866.1:g.16511C>G;NM_000540.2:c.631+533C>G;NM_001042723.1:c.631+533C>G 283205822 117500828 GMI_AK_SNP_7526243 8.70e-03 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935863_38935866delAAAA;NG_008866.1:g.16524_16527delAAAA;NM_000540.2:c.631+546_631+549delAAAA;NM_001042723.1:c.631+546_631+549delAAAA 80525752 61419525 Cor18507_DIV_20070510.chr19_43627725-43627730_1 2007.11.25 2007.11.25 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38935863_38935864insA;NG_008866.1:g.16524_16525insA;NM_000540.2:c.631+546_631+547insA;NM_001042723.1:c.631+546_631+547insA 95728323 67193520 1104685411582 2008.03.23 2008.12.03 2009.02.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38935863_38935864insA;NG_008866.1:g.16524_16525insA;NM_000540.2:c.631+546_631+547insA;NM_001042723.1:c.631+546_631+547insA 101775712 67193520 INDEL_GP36_2008a_1402558_0 2008.05.18 2008.05.18 2009.02.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38935863_38935864insA;NG_008866.1:g.16524_16525insA;NM_000540.2:c.631+546_631+547insA;NM_001042723.1:c.631+546_631+547insA 101775715 67193520 INDEL_GP36_2008a_1402558_1 2008.05.18 2008.05.18 2009.02.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38935863_38935864insA;NG_008866.1:g.16524_16525insA;NM_000540.2:c.631+546_631+547insA;NM_001042723.1:c.631+546_631+547insA 294962517 67193520 DIP_400221_chr19_43627703 2011.01.22 2011.01.22 2009.02.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38935883A>T;NG_008866.1:g.16544A>T;NM_000540.2:c.631+566A>T;NM_001042723.1:c.631+566A>T 283205823 201041180 GMI_AK_SNP_7526244 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38935890delT;NG_008866.1:g.16551delT;NM_000540.2:c.631+573delT;NM_001042723.1:c.631+573delT 328032173 146289047 CEU_chr19_43627729_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38935904C>T;NG_008866.1:g.16565C>T;NM_000540.2:c.631+587C>T;NM_001042723.1:c.631+587C>T 228135531 115880610 pilot_1_YRI_9945214_chr19_43627744 9.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 14699563 10407327 chr19.NT_011109.15_11204166 4.36e-01 2003.11.10 2006.10.25 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 21530651 10407327 WGSA-200403-chr19.chr19.NT_011109.15_11204166 4.36e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 65762741 10407327 Human1-rs10407327 4.36e-01 2006.10.10 2006.10.10 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 74989336 10407327 ILMN_Human_1M_rs10407327 4.36e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 78483298 10407327 Cor12878_SNV_20070510.chr19_43627788 4.36e-01 2007.10.19 2007.10.19 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 84389090 10407327 Cor19240_SNV_20070510.chr19_43627788 4.36e-01 2007.12.07 2007.12.07 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 90969775 10407327 JWB-1168139 4.36e-01 2008.03.01 2008.03.01 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 103437699 10407327 BGI_rs10407327 4.36e-01 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 111365045 10407327 CEU.trio.12.15.2008_3616568_chr19_43627788 4.36e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 115119828 10407327 NA19240_2008_12_16_3257519_chr19_43627788 4.36e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 119620702 10407327 KHS1782949 4.36e-01 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 137670186 10407327 ENSSNP11444266 4.36e-01 2009.05.16 2009.05.16 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 143872635 10407327 ENSSNP9946645 4.36e-01 2009.06.06 2009.10.17 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 155887191 10407327 GMI_SNP_201567487 4.36e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 159890132 10407327 HumanOmni1-Quad_v1-0_B_rs10407327-128_T_R_1513951572 4.36e-01 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 168182402 10407327 NA07022_36_chr19_43627788 4.36e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 169705762 10407327 NA19240_36_chr19_43627788 4.36e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 170031471 10407327 Human1M-Duov3_B_rs10407327-128_T_R_1513951572 4.36e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 171753948 10407327 NA20431_36_chr19_43627788 4.36e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 203750794 10407327 BUSHMAN-chr19-43627787 4.36e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 208468539 10407327 BCM_CMT_1011-3113716 4.36e-01 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 228135532 10407327 pilot_1_YRI_9945215_chr19_43627788 4.36e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 237674064 10407327 pilot_1_CEU_7278693_chr19_43627788 4.36e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 243880874 10407327 pilot_1_CHB+JPT_5765951_chr19_43627788 4.36e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 255668034 10407327 SNP49552_19_43627788 4.36e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 283205824 10407327 GMI_AK_SNP_7526245 4.36e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 292248438 10407327 SNP_1754796_chr19_43627788 4.36e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 479258011 10407327 HumanOmni2.5-4v1_B_rs10407327-128_T_R_1782956012 4.36e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 479260935 10407327 HumanOmniExpress-12v1_C_rs10407327-131_T_R_1857077500 4.36e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 479626389 10407327 HumanOmni1-Quad_v1-0_C_rs10407327-131_T_R_1865217983 4.36e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38935948C>T;NG_008866.1:g.16609C>T;NM_000540.2:c.631+631C>T;NM_001042723.1:c.631+631C>T 484429706 10407327 HumanOmni2.5-4v1_D_rs10407327-131_T_R_1857077500 4.36e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38935963G>A;NG_008866.1:g.16624G>A;NM_000540.2:c.631+646G>A;NM_001042723.1:c.631+646G>A 82996333 58008023 Cor19240_SNV_20070510.chr19_43627803 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936019A>G;NG_008866.1:g.16680A>G;NM_000540.2:c.631+702A>G;NM_001042723.1:c.631+702A>G 340454289 74982679 20100804_snps_12097830_chr19_38936019 9.00e-04 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936034A>G;NG_008866.1:g.16695A>G;NM_000540.2:c.631+717A>G;NM_001042723.1:c.631+717A>G 340454290 143599960 20100804_snps_12097831_chr19_38936034 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38936068G>A;NG_008866.1:g.16729G>A;NM_000540.2:c.631+751G>A;NM_001042723.1:c.631+751G>A 14700479 10407937 chr19.NT_011109.15_11204286 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 GMI 6261 NC_000019.9:g.38936073C>T;NG_008866.1:g.16734C>T;NM_000540.2:c.631+756C>T;NM_001042723.1:c.631+756C>T 155887200 75948789 GMI_SNP_135425263 9.60e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38936073C>T;NG_008866.1:g.16734C>T;NM_000540.2:c.631+756C>T;NM_001042723.1:c.631+756C>T 283205825 75948789 GMI_AK_SNP_7526246 9.60e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936073C>T;NG_008866.1:g.16734C>T;NM_000540.2:c.631+756C>T;NM_001042723.1:c.631+756C>T 340454291 75948789 20100804_snps_12097832_chr19_38936073 9.60e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936103C>G;NG_008866.1:g.16764C>G;NM_000540.2:c.631+786C>G;NM_001042723.1:c.631+786C>G 228135533 77253303 pilot_1_YRI_9945216_chr19_43627943 8.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936159G>A;NG_008866.1:g.16820G>A;NM_000540.2:c.631+842G>A;NM_001042723.1:c.631+842G>A 340454292 138880153 20100804_snps_12097833_chr19_38936159 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 80536554 59748798 Cor18507_SNV_20070510.chr19_43628084 2.06e-02 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 115119836 59748798 NA19240_2008_12_16_3257520_chr19_43628084 2.06e-02 2008.12.19 2008.12.19 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 117702460 59748798 NA18507_000043824_NCBI36.1_chr19_43628084 2.06e-02 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 169705779 59748798 NA19240_36_chr19_43628084 2.06e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 203750795 59748798 BUSHMAN-chr19-43628083 2.06e-02 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 228135534 59748798 pilot_1_YRI_9945217_chr19_43628084 2.06e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 482342806 59748798 HumanOmni2.5-4v1_D_kgp21479254-0_B_R_1844310788 2.06e-02 2012.02.01 2012.02.01 2007.12.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38936244G>A;NG_008866.1:g.16905G>A;NM_000540.2:c.632-868G>A;NM_001042723.1:c.632-868G>A 483825870 59748798 HumanOmni2.5-4v1_B_SNP19-43628084-0_B_R_1637746655 2.06e-02 2012.02.03 2012.02.03 2007.12.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 81474705 58289337 Cor18956_SNV_20070510.chr19_43628117 2.08e-01 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 171753953 58289337 NA20431_36_chr19_43628117 2.08e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 208410875 58289337 BCM_CMT_1011-3094531 2.08e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 237674065 58289337 pilot_1_CEU_7278694_chr19_43628117 2.08e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 243880875 58289337 pilot_1_CHB+JPT_5765952_chr19_43628117 2.08e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38936277A>G;NG_008866.1:g.16938A>G;NM_000540.2:c.632-835A>G;NM_001042723.1:c.632-835A>G 283205826 58289337 GMI_AK_SNP_7526247 2.08e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936313T>C;NG_008866.1:g.16974T>C;NM_000540.2:c.632-799T>C;NM_001042723.1:c.632-799T>C 17622207 11881714 CSHL-HuCC-200402.chr19.NT_011109.15_11204531 3.70e-03 2004.02.19 2004.03.04 2004.02.28 2011.07.08 137 ABI 6261 NC_000019.9:g.38936313T>C;NG_008866.1:g.16974T>C;NM_000540.2:c.632-799T>C;NM_001042723.1:c.632-799T>C 44175924 11881714 hCV11507971 3.70e-03 2005.07.18 2006.11.03 2004.02.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936313T>C;NG_008866.1:g.16974T>C;NM_000540.2:c.632-799T>C;NM_001042723.1:c.632-799T>C 228135535 11881714 pilot_1_YRI_9945218_chr19_43628153 3.70e-03 2010.04.22 2010.04.22 2004.02.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936320C>T;NG_008866.1:g.16981C>T;NM_000540.2:c.632-792C>T;NM_001042723.1:c.632-792C>T 340454293 141175051 20100804_snps_12097834_chr19_38936320 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 16789063 11083457 CSHL-HuAA-200402.chr19.NT_011109.15_11204569 4.12e-01 2004.02.18 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 17614016 11083457 CSHL-HuCC-200402.chr19.NT_011109.15_11204569 4.12e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 21533512 11083457 WGSA-200403-chr19.chr19.NT_011109.15_11204569 4.12e-01 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 78240588 11083457 Cor12878_SNV_20070510.chr19_43628191 4.12e-01 2007.10.18 2007.10.18 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 82969983 11083457 Cor19240_SNV_20070510.chr19_43628191 4.12e-01 2007.12.04 2007.12.04 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 85125988 11083457 Cor18517_SNV_20070510.chr19_43628191 4.12e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 90969777 11083457 JWB-1168140 4.12e-01 2008.03.01 2008.03.01 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 96266933 11083457 1103691141735 4.12e-01 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 BGI 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 103437700 11083457 BGI_rs11083457 4.12e-01 2008.06.06 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 111365053 11083457 CEU.trio.12.15.2008_3616569_chr19_43628191 4.12e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 136267660 11083457 ENSSNP1527840 4.12e-01 2009.05.15 2009.10.15 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 137670190 11083457 ENSSNP6736382 4.12e-01 2009.05.16 2009.05.16 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 155887208 11083457 GMI_SNP_74205341 4.12e-01 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 168182414 11083457 NA07022_36_chr19_43628191 4.12e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 169705794 11083457 NA19240_36_chr19_43628191 4.12e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 171753965 11083457 NA20431_36_chr19_43628191 4.12e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 203750796 11083457 BUSHMAN-chr19-43628190 4.12e-01 2010.03.09 2010.03.09 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 208522757 11083457 BCM_CMT_1011-3132262 4.12e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 228135536 11083457 pilot_1_YRI_9945219_chr19_43628191 4.12e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 237674066 11083457 pilot_1_CEU_7278695_chr19_43628191 4.12e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 243880876 11083457 pilot_1_CHB+JPT_5765953_chr19_43628191 4.12e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 255668037 11083457 SNP49553_19_43628191 4.12e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 283205827 11083457 GMI_AK_SNP_7526248 4.12e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 292248439 11083457 SNP_1754797_chr19_43628191 4.12e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 483714686 11083457 HumanOmni2.5-4v1_D_kgp6383646-0_T_F_1816241012 4.12e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38936351A>G;NG_008866.1:g.17012A>G;NM_000540.2:c.632-761A>G;NM_001042723.1:c.632-761A>G 483825872 11083457 HumanOmni2.5-4v1_B_SNP19-43628191-0_T_F_1612861292 4.12e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936356C>T;NG_008866.1:g.17017C>T;NM_000540.2:c.632-756C>T;NM_001042723.1:c.632-756C>T 465586587 188330432 20101123_snps_11753817_chr19_38936356 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 16789446 11083458 CSHL-HuAA-200402.chr19.NT_011109.15_11204638 4.12e-01 2004.02.18 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 17614235 11083458 CSHL-HuCC-200402.chr19.NT_011109.15_11204638 4.12e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 21536469 11083458 WGSA-200403-chr19.chr19.NT_011109.15_11204638 4.12e-01 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 78067636 11083458 Cor12878_SNV_20070510.chr19_43628260 4.12e-01 2007.10.17 2007.10.17 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 81917937 11083458 Cor19240_SNV_20070510.chr19_43628260 4.12e-01 2007.12.01 2007.12.01 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 84376906 11083458 Cor18517_SNV_20070510.chr19_43628260 4.12e-01 2007.12.07 2007.12.07 2004.02.27 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 90969779 11083458 JWB-1168141 4.12e-01 2008.03.01 2008.03.01 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 96266934 11083458 1103691141736 4.12e-01 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 BGI 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 103437701 11083458 BGI_rs11083458 4.12e-01 2008.06.06 2009.06.17 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 132762370 11083458 ENSSNP1527841 4.12e-01 2009.05.12 2009.10.15 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 137670192 11083458 ENSSNP5906992 4.12e-01 2009.05.16 2009.05.16 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 155887214 11083458 GMI_SNP_40701654 4.12e-01 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 168182425 11083458 NA07022_36_chr19_43628260 4.12e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 169705809 11083458 NA19240_36_chr19_43628260 4.12e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 171753968 11083458 NA20431_36_chr19_43628260 4.12e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 203750797 11083458 BUSHMAN-chr19-43628259 4.12e-01 2010.03.09 2010.03.09 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 208487894 11083458 BCM_CMT_1011-3120066 4.12e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 237674067 11083458 pilot_1_CEU_7278696_chr19_43628260 4.12e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 255668043 11083458 SNP49554_19_43628260 4.12e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 283205828 11083458 GMI_AK_SNP_7526249 4.12e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.38936420G>C;NG_008866.1:g.17081G>C;NM_000540.2:c.632-692G>C;NM_001042723.1:c.632-692G>C 292248440 11083458 SNP_1754798_chr19_43628260 4.12e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 16789275 11083459 CSHL-HuAA-200402.chr19.NT_011109.15_11204712 4.13e-01 2004.02.18 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 17614130 11083459 CSHL-HuCC-200402.chr19.NT_011109.15_11204712 4.13e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 21535124 11083459 WGSA-200403-chr19.chr19.NT_011109.15_11204712 4.13e-01 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 78342969 11083459 Cor12878_SNV_20070510.chr19_43628334 4.13e-01 2007.10.19 2007.10.19 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 83603831 11083459 Cor19240_SNV_20070510.chr19_43628334 4.13e-01 2007.12.05 2007.12.05 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 85493748 11083459 Cor18517_SNV_20070510.chr19_43628334 4.13e-01 2007.12.09 2007.12.09 2004.02.27 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 90969781 11083459 JWB-1168142 4.13e-01 2008.03.01 2008.03.01 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 96266935 11083459 1103691141737 4.13e-01 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 BGI 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 103437702 11083459 BGI_rs11083459 4.13e-01 2008.06.06 2009.06.17 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 132762374 11083459 ENSSNP1527842 4.13e-01 2009.05.12 2009.10.15 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 137670195 11083459 ENSSNP5709992 4.13e-01 2009.05.16 2009.05.16 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 155887220 11083459 GMI_SNP_41117716 4.13e-01 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 168182439 11083459 NA07022_36_chr19_43628334 4.13e-01 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 169705824 11083459 NA19240_36_chr19_43628334 4.13e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 171753976 11083459 NA20431_36_chr19_43628334 4.13e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 208498848 11083459 BCM_CMT_1011-3123883 4.13e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 255668047 11083459 SNP49555_19_43628334 4.13e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 283205829 11083459 GMI_AK_SNP_7526250 4.13e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 292248441 11083459 SNP_1754799_chr19_43628334 4.13e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936494A>G;NG_008866.1:g.17155A>G;NM_000540.2:c.632-618A>G;NM_001042723.1:c.632-618A>G 340454294 11083459 20100804_snps_12097835_chr19_38936494 4.13e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936533G>A;NG_008866.1:g.17194G>A;NM_000540.2:c.632-579G>A;NM_001042723.1:c.632-579G>A 203750798 113082524 BUSHMAN-chr19-43628372 2.15e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936533G>A;NG_008866.1:g.17194G>A;NM_000540.2:c.632-579G>A;NM_001042723.1:c.632-579G>A 465586588 113082524 20101123_snps_11753818_chr19_38936533 2.15e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 PJP 6261 NC_000019.9:g.38936535_38936536insAGG;NC_000019.9:g.38936535_38936536insGAG;NG_008866.1:g.17196_17197insAGG;NG_008866.1:g.17196_17197insGAG;NM_000540.2:c.632-577_632-576insAGG;NM_000540.2:c.632-577_632-576insGAG;NM_001042723.1:c.632-577_632-576insAGG;NM_001042723.1:c.632-577_632-576insGAG 294962518 140741705 DIP_400222_chr19_43628375 2011.01.22 2011.01.22 2011.05.09 2013.01.11 137 1000GENOMES 6261 NC_000019.9:g.38936535_38936536insAGG;NC_000019.9:g.38936535_38936536insGAG;NG_008866.1:g.17196_17197insAGG;NG_008866.1:g.17196_17197insGAG;NM_000540.2:c.632-577_632-576insAGG;NM_000540.2:c.632-577_632-576insGAG;NM_001042723.1:c.632-577_632-576insAGG;NM_001042723.1:c.632-577_632-576insGAG 328032175 140741705 CEU_chr19_43628375_indel 2011.03.13 2011.04.03 2011.05.09 2013.01.11 137 1000GENOMES 6261 NC_000019.9:g.38936535_38936536insAGG;NC_000019.9:g.38936535_38936536insGAG;NG_008866.1:g.17196_17197insAGG;NG_008866.1:g.17196_17197insGAG;NM_000540.2:c.632-577_632-576insAGG;NM_000540.2:c.632-577_632-576insGAG;NM_001042723.1:c.632-577_632-576insAGG;NM_001042723.1:c.632-577_632-576insGAG 328276217 140741705 YRI_chr19_43628375_indel 2011.03.13 2011.04.04 2011.05.09 2013.01.11 137 1000GENOMES 6261 NC_000019.9:g.38936535_38936536insAGG;NC_000019.9:g.38936535_38936536insGAG;NG_008866.1:g.17196_17197insAGG;NG_008866.1:g.17196_17197insGAG;NM_000540.2:c.632-577_632-576insAGG;NM_000540.2:c.632-577_632-576insGAG;NM_001042723.1:c.632-577_632-576insAGG;NM_001042723.1:c.632-577_632-576insGAG 499576222 140741705 20110316_indels_chr19_38936535_38936536 2012.03.20 2012.03.20 2011.05.09 2013.01.11 137 DEVINE_LAB 6261 NC_000019.9:g.38936536_38936537insAGG;NG_008866.1:g.17197_17198insAGG;NM_000540.2:c.632-576_632-575insAGG;NM_001042723.1:c.632-576_632-575insAGG 102567647 67760971 INDEL_GP36_2008a_2251754_0 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 DEVINE_LAB 6261 NC_000019.9:g.38936536_38936537insAGG;NG_008866.1:g.17197_17198insAGG;NM_000540.2:c.632-576_632-575insAGG;NM_001042723.1:c.632-576_632-575insAGG 102567650 67760971 INDEL_GP36_2008a_2251754_1 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 DEVINE_LAB 6261 NC_000019.9:g.38936536_38936537insAGG;NG_008866.1:g.17197_17198insAGG;NM_000540.2:c.632-576_632-575insAGG;NM_001042723.1:c.632-576_632-575insAGG 102567651 67760971 INDEL_GP36_2008a_2251754_2 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 PJP 6261 NC_000019.9:g.38936536_38936537insAGG;NG_008866.1:g.17197_17198insAGG;NM_000540.2:c.632-576_632-575insAGG;NM_001042723.1:c.632-576_632-575insAGG 294962519 67760971 DIP_400223_chr19_43628376 2011.01.22 2011.01.22 2009.02.06 2011.09.17 137 HGSV 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 80970062 60535236 Cor12878_DIV_20070510.chr19_43628377-43628378_1 2007.11.27 2007.11.27 2007.12.16 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 82452749 60535236 Cor19240_DIV_20070510.chr19_43628377-43628378_1 2007.12.02 2007.12.02 2007.12.16 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 83859446 60535236 Cor18517_DIV_20070510.chr19_43628377-43628378_1 2007.12.05 2007.12.05 2007.12.16 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 95728324 60535236 1104685411583 2008.03.23 2008.12.03 2007.12.16 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 103848651 60535236 JWB-4183132 2008.06.07 2009.05.12 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.38936537_38936538insGAG;NG_008866.1:g.17198_17199insGAG;NM_000540.2:c.632-575_632-574insGAG;NM_001042723.1:c.632-575_632-574insGAG 289387881 60535236 GMI_AK_INDEL_1065338 2010.12.30 2011.12.30 2007.12.16 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38936538_38936539insGAG;NG_008866.1:g.17199_17200insGAG;NM_000540.2:c.632-574_632-573insGAG;NM_001042723.1:c.632-574_632-573insGAG 102215113 68186835 INDEL_GP36_2008a_1200603_0 2008.05.18 2008.05.18 2009.02.07 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38936538_38936539insGAG;NG_008866.1:g.17199_17200insGAG;NM_000540.2:c.632-574_632-573insGAG;NM_001042723.1:c.632-574_632-573insGAG 102215116 68186835 INDEL_GP36_2008a_1200603_1 2008.05.18 2008.05.18 2009.02.07 2011.07.08 137 BL 6261 NC_000019.9:g.38936538T>G;NG_008866.1:g.17199T>G;NM_000540.2:c.632-574T>G;NM_001042723.1:c.632-574T>G 255668053 142885777 SNP49556_19_43628378 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936642C>G;NG_008866.1:g.17303C>G;NM_000540.2:c.632-470C>G;NM_001042723.1:c.632-470C>G 465586589 186414439 20101123_snps_11753819_chr19_38936642 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38936647C>T;NG_008866.1:g.17308C>T;NM_000540.2:c.632-465C>T;NM_001042723.1:c.632-465C>T 465586590 190374298 20101123_snps_11753820_chr19_38936647 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 10925651 7249795 chr19.NT_011109.15_11204871 4.12e-01 2003.06.30 2003.11.06 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 16789402 7249795 CSHL-HuAA-200402.chr19.NT_011109.15_11204871 4.12e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 17614209 7249795 CSHL-HuCC-200402.chr19.NT_011109.15_11204871 4.12e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 21536181 7249795 WGSA-200403-chr19.chr19.NT_011109.15_11204871 4.12e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 78404225 7249795 Cor12878_SNV_20070510.chr19_43628493 4.12e-01 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 83982256 7249795 Cor19240_SNV_20070510.chr19_43628493 4.12e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 85634114 7249795 Cor18517_SNV_20070510.chr19_43628493 4.12e-01 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 90969784 7249795 JWB-1168143 4.12e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 96266936 7249795 1103691141738 4.12e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 103437703 7249795 BGI_rs7249795 4.12e-01 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 111365069 7249795 CEU.trio.12.15.2008_3616571_chr19_43628493 4.12e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 115119866 7249795 NA19240_2008_12_16_3257523_chr19_43628493 4.12e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 136267656 7249795 ENSSNP1527843 4.12e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 155887229 7249795 GMI_SNP_41058210 4.12e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 168182454 7249795 NA07022_36_chr19_43628493 4.12e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 169705845 7249795 NA19240_36_chr19_43628493 4.12e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 171753983 7249795 NA20431_36_chr19_43628493 4.12e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 203750799 7249795 BUSHMAN-chr19-43628492 4.12e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 208402863 7249795 BCM_CMT_1011-3091869 4.12e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 228135537 7249795 pilot_1_YRI_9945220_chr19_43628493 4.12e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 237674068 7249795 pilot_1_CEU_7278697_chr19_43628493 4.12e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 243880877 7249795 pilot_1_CHB+JPT_5765954_chr19_43628493 4.12e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 255668060 7249795 SNP49557_19_43628493 4.12e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 283205830 7249795 GMI_AK_SNP_7526251 4.12e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38936653A>C;NG_008866.1:g.17314A>C;NM_000540.2:c.632-459A>C;NM_001042723.1:c.632-459A>C 292248442 7249795 SNP_1754800_chr19_43628493 4.12e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936671C>T;NG_008866.1:g.17332C>T;NM_000540.2:c.632-441C>T;NM_001042723.1:c.632-441C>T 228135538 116226871 pilot_1_YRI_9945221_chr19_43628511 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936729G>A;NG_008866.1:g.17390G>A;NM_000540.2:c.632-383G>A;NM_001042723.1:c.632-383G>A 228135539 79227810 pilot_1_YRI_9945222_chr19_43628569 1.88e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38936733A>G;NG_008866.1:g.17394A>G;NM_000540.2:c.632-379A>G;NM_001042723.1:c.632-379A>G 465586591 183768036 20101123_snps_11753821_chr19_38936733 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38936784C>T;NG_008866.1:g.17445C>T;NM_000540.2:c.632-328C>T;NM_001042723.1:c.632-328C>T 340454295 139111542 20100804_snps_12097836_chr19_38936784 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38936802delC;NG_008866.1:g.17463delC;NM_000540.2:c.632-310delC;NM_001042723.1:c.632-310delC 41042921 34967148 hCV32823820 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38936802_38936803delCT;NG_008866.1:g.17463_17464delCT;NM_000540.2:c.632-310_632-309delCT;NM_001042723.1:c.632-310_632-309delCT 100905661 72055298 INDEL_GP36_2008a_1543501_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 10933234 7254048 chr19.NT_011109.15_11205021 2003.06.30 2004.08.05 2003.07.11 2013.01.17 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 16804907 7254048 CSHL-HuAA-200402.chr19.NT_011109.15_11205021 2004.02.18 2004.03.04 2003.07.11 2013.01.17 137 ILLUMINA 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 65787902 7254048 Human1-rs7254048 2006.10.10 2006.10.10 2003.07.11 2013.01.17 137 PERLEGEN 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 69228153 7254048 PGP13269830 2007.01.30 2007.01.30 2003.07.11 2013.01.17 137 HGSV 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 78130460 7254048 Cor12878_SNV_20070510.chr19_43628643 2007.10.18 2007.10.18 2003.07.11 2013.01.17 137 HGSV 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 82408709 7254048 Cor19240_SNV_20070510.chr19_43628643 2007.12.02 2007.12.02 2003.07.11 2013.01.17 137 HGSV 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 84692058 7254048 Cor18517_SNV_20070510.chr19_43628643 2007.12.07 2007.12.07 2003.07.11 2013.01.17 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 90969786 7254048 JWB-1168144 2008.03.01 2008.03.01 2003.07.11 2013.01.17 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 96266937 7254048 1103691141739 2008.03.26 2008.03.26 2003.07.11 2013.01.17 137 BGI 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 103437704 7254048 BGI_rs7254048 2008.06.06 2009.06.17 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 111365078 7254048 CEU.trio.12.15.2008_3616572_chr19_43628643 2008.12.17 2008.12.17 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 115119870 7254048 NA19240_2008_12_16_3257524_chr19_43628643 2008.12.19 2008.12.19 2003.07.11 2013.01.17 137 ENSEMBL 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 136267653 7254048 ENSSNP1527844 2009.05.15 2009.10.15 2003.07.11 2013.01.17 137 GMI 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 155887235 7254048 GMI_SNP_120857744 2009.06.24 2009.06.24 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 168182463 7254048 NA07022_36_chr19_43628643 2009.09.30 2009.09.30 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 169705866 7254048 NA19240_36_chr19_43628643 2009.10.01 2009.10.01 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 171753991 7254048 NA20431_36_chr19_43628643 2009.10.01 2009.10.01 2003.07.11 2013.01.17 137 BUSHMAN 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 203750800 7254048 BUSHMAN-chr19-43628642 2010.03.09 2010.03.09 2003.07.11 2013.01.17 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 208446751 7254048 BCM_CMT_1011-3106388 2010.03.19 2010.03.19 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 228135540 7254048 pilot_1_YRI_9945223_chr19_43628643 2010.04.22 2010.04.22 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 237674069 7254048 pilot_1_CEU_7278698_chr19_43628643 2010.05.01 2010.05.01 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 243880878 7254048 pilot_1_CHB+JPT_5765955_chr19_43628643 2010.05.01 2010.05.01 2003.07.11 2013.01.17 137 BL 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 255668063 7254048 SNP49558_19_43628643 2010.08.20 2010.08.20 2003.07.11 2013.01.17 137 GMI 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 283205831 7254048 GMI_AK_SNP_7526252 2010.12.16 2010.12.16 2003.07.11 2013.01.17 137 PJP 6261 NC_000019.9:g.38936803T>A;NG_008866.1:g.17464T>A;NM_000540.2:c.632-309T>A;NM_001042723.1:c.632-309T>A 292248443 7254048 SNP_1754801_chr19_43628643 2011.01.21 2011.01.21 2003.07.11 2013.01.17 137 BCM_SSAHASNP 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 10931626 7253151 chr19.NT_011109.15_11205054 4.13e-01 2003.06.30 2008.03.31 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 16792069 7253151 CSHL-HuAA-200402.chr19.NT_011109.15_11205054 4.13e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 17615901 7253151 CSHL-HuCC-200402.chr19.NT_011109.15_11205054 4.13e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 21507592 7253151 WGSA-200403-chr19.chr19.NT_011109.15_11205054 4.13e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 66124647 7253151 SNP_A-2052941 4.13e-01 2006.10.27 2008.03.31 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 69228154 7253151 PGP06635565 4.13e-01 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 76122650 7253151 AFFY_6_1M_SNP_A-2052941 4.13e-01 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 78081249 7253151 Cor12878_SNV_20070510.chr19_43628676 4.13e-01 2007.10.17 2007.10.17 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 82414165 7253151 KHS247396 4.13e-01 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 84456159 7253151 Cor18517_SNV_20070510.chr19_43628676 4.13e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 90969788 7253151 JWB-1168145 4.13e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 96266938 7253151 1103691141740 4.13e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 103437705 7253151 BGI_rs7253151 4.13e-01 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 111365087 7253151 CEU.trio.12.15.2008_3616573_chr19_43628676 4.13e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 115119881 7253151 NA19240_2008_12_16_3257525_chr19_43628676 4.13e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 143432436 7253151 ENSSNP1527845 4.13e-01 2009.06.06 2009.10.19 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 155887242 7253151 GMI_SNP_240930578 4.13e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 168182475 7253151 NA07022_36_chr19_43628676 4.13e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 169705880 7253151 NA19240_36_chr19_43628676 4.13e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 171753999 7253151 NA20431_36_chr19_43628676 4.13e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 172571053 7253151 GenomeWideSNP_5_SNP_A-2052941 4.13e-01 2009.10.02 2009.10.02 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 203750801 7253151 BUSHMAN-chr19-43628675 4.13e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 208483943 7253151 BCM_CMT_1011-3118737 4.13e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 228135541 7253151 pilot_1_YRI_9945224_chr19_43628676 4.13e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 237674070 7253151 pilot_1_CEU_7278699_chr19_43628676 4.13e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 243880879 7253151 pilot_1_CHB+JPT_5765956_chr19_43628676 4.13e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 255668067 7253151 SNP49559_19_43628676 4.13e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 283205832 7253151 GMI_AK_SNP_7526253 4.13e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38936836C>T;NG_008866.1:g.17497C>T;NM_000540.2:c.632-276C>T;NM_001042723.1:c.632-276C>T 292248444 7253151 SNP_1754802_chr19_43628676 4.13e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.644G>A NC_000019.9:g.38937124G>A;NG_008866.1:g.17785G>A;NM_000540.2:c.644G>A;NM_001042723.1:c.644G>A;NP_000531.2:p.Gly215Glu;NP_001036188.1:p.Gly215Glu 252444683 118192115 CCORE_4 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.644G>A NC_000019.9:g.38937124G>A;NG_008866.1:g.17785G>A;NM_000540.2:c.644G>A;NM_001042723.1:c.644G>A;NP_000531.2:p.Gly215Glu;NP_001036188.1:p.Gly215Glu 475871435 118192115 RYR1_00029 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.652G>A NC_000019.9:g.38937132G>A;NG_008866.1:g.17793G>A;NM_000540.2:c.652G>A;NM_001042723.1:c.652G>A;NP_000531.2:p.Val218Ile;NP_001036188.1:p.Val218Ile 475871436 193922759 RYR1_00225 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 POPS 6261 NC_000019.9:g.38937157T>A;NG_008866.1:g.17818T>A;NM_000540.2:c.677T>A;NM_001042723.1:c.677T>A;NP_000531.2:p.Met226Lys;NP_001036188.1:p.Met226Lys 182258902 112596687 MHY2 unknown untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.677T>A NC_000019.9:g.38937157T>A;NG_008866.1:g.17818T>A;NM_000540.2:c.677T>A;NM_001042723.1:c.677T>A;NP_000531.2:p.Met226Lys;NP_001036188.1:p.Met226Lys 475871437 112596687 RYR1_00138 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.680A>T NC_000019.9:g.38937160A>T;NG_008866.1:g.17821A>T;NM_000540.2:c.680A>T;NM_001042723.1:c.680A>T;NP_000531.2:p.Asp227Val;NP_001036188.1:p.Asp227Val 475871438 193922760 RYR1_00187 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38937206G>T;NG_008866.1:g.17867G>T;NM_000540.2:c.725+1G>T;NM_001042723.1:c.725+1G>T 489164336 200291011 20110521_exome_255563_chr19_38937206 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38937211G>A;NG_008866.1:g.17872G>A;NM_000540.2:c.725+6G>A;NM_001042723.1:c.725+6G>A 491766124 201679831 SNV-chr19-43629051 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937241G>T;NG_008866.1:g.17902G>T;NM_000540.2:c.725+36G>T;NM_001042723.1:c.725+36G>T 489164338 202144860 20110521_exome_255564_chr19_38937241 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937248G>A;NG_008866.1:g.17909G>A;NM_000540.2:c.725+43G>A;NM_001042723.1:c.725+43G>A 465586592 186166590 20101123_snps_11753822_chr19_38937248 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937248G>A;NG_008866.1:g.17909G>A;NM_000540.2:c.725+43G>A;NM_001042723.1:c.725+43G>A 491157910 186166590 20110521_exome_665708_chr19_38937248 1.80e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38937257T>C;NG_008866.1:g.17918T>C;NM_000540.2:c.725+52T>C;NM_001042723.1:c.725+52T>C 203750802 111657415 BUSHMAN-chr19-43629096 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38937292G>A;NG_008866.1:g.17953G>A;NM_000540.2:c.726-42G>A;NM_001042723.1:c.726-42G>A 228135542 115044564 pilot_1_YRI_9945225_chr19_43629132 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937292G>A;NG_008866.1:g.17953G>A;NM_000540.2:c.726-42G>A;NM_001042723.1:c.726-42G>A 491157911 115044564 20110521_exome_665709_chr19_38937292 3.20e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 HGBASE 6261 NC_000019.9:g.38937350G>A;NC_000019.9:g.38937350G>C;NG_008866.1:g.18011G>A;NG_008866.1:g.18011G>C;NM_000540.2:c.742G>A;NM_000540.2:c.742G>C;NM_001042723.1:c.742G>A;NM_001042723.1:c.742G>C;NP_000531.2:p.Gly248Arg;NP_001036188.1:p.Gly248Arg 2421288 1801086 SNP000001833 germline untested 2000.11.07 2003.10.10 2000.11.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.742G>A NC_000019.9:g.38937350G>A;NC_000019.9:g.38937350G>C;NG_008866.1:g.18011G>A;NG_008866.1:g.18011G>C;NM_000540.2:c.742G>A;NM_000540.2:c.742G>C;NM_001042723.1:c.742G>A;NM_001042723.1:c.742G>C;NP_000531.2:p.Gly248Arg;NP_001036188.1:p.Gly248Arg 475871439 1801086 RYR1_00081 unknown untested 2011.11.25 2011.11.25 2000.11.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.742G>C NC_000019.9:g.38937350G>A;NC_000019.9:g.38937350G>C;NG_008866.1:g.18011G>A;NG_008866.1:g.18011G>C;NM_000540.2:c.742G>A;NM_000540.2:c.742G>C;NM_001042723.1:c.742G>A;NM_001042723.1:c.742G>C;NP_000531.2:p.Gly248Arg;NP_001036188.1:p.Gly248Arg 475871440 1801086 RYR1_00310 germline untested 2011.11.25 2011.11.25 2000.11.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 117702462 73930577 NA18507_000043825_NCBI36.1_chr19_43629390 2.26e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 171754005 73930577 NA20431_36_chr19_43629390 2.26e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 203750803 73930577 BUSHMAN-chr19-43629389 2.26e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 208480420 73930577 BCM_CMT_1011-3117576 2.26e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 228135543 73930577 pilot_1_YRI_9945226_chr19_43629390 2.26e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 237674071 73930577 pilot_1_CEU_7278700_chr19_43629390 2.26e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 243880880 73930577 pilot_1_CHB+JPT_5765957_chr19_43629390 2.26e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 283205833 73930577 GMI_AK_SNP_7526254 2.26e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 483825874 73930577 HumanOmni2.5-4v1_B_SNP19-43629390-0_B_F_1622634609 2.26e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38937550T>G;NG_008866.1:g.18211T>G;NM_000540.2:c.800+142T>G;NM_001042723.1:c.800+142T>G 484372364 73930577 HumanOmni2.5-4v1_D_kgp9976085-0_B_F_1816497733 2.26e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937792C>T;NG_008866.1:g.18453C>T;NM_000540.2:c.800+384C>T;NM_001042723.1:c.800+384C>T 465586593 191461636 20101123_snps_11753823_chr19_38937792 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38937829T>A;NG_008866.1:g.18490T>A;NM_000540.2:c.800+421T>A;NM_001042723.1:c.800+421T>A 340454297 145960159 20100804_snps_12097838_chr19_38937829 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38937864delC;NC_000019.9:g.38937864delCinsCAAA;NG_008866.1:g.18525delC;NG_008866.1:g.18525delCinsCAAA;NM_000540.2:c.800+456delC;NM_000540.2:c.800+456delCinsCAAA;NM_001042723.1:c.800+456delC;NM_001042723.1:c.800+456delCinsCAAA 80790583 60055289 Cor12878_DIV_20070510.chr19_43629719-43629724_1 2007.11.26 2007.11.26 2007.12.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38937864delC;NC_000019.9:g.38937864delCinsCAAA;NG_008866.1:g.18525delC;NG_008866.1:g.18525delCinsCAAA;NM_000540.2:c.800+456delC;NM_000540.2:c.800+456delCinsCAAA;NM_001042723.1:c.800+456delC;NM_001042723.1:c.800+456delCinsCAAA 81869532 60055289 Cor18956_DIV_20070510.chr19_43629719-43629724_1 2007.12.01 2007.12.01 2007.12.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38937864delC;NC_000019.9:g.38937864delCinsCAAA;NG_008866.1:g.18525delC;NG_008866.1:g.18525delCinsCAAA;NM_000540.2:c.800+456delC;NM_000540.2:c.800+456delCinsCAAA;NM_001042723.1:c.800+456delC;NM_001042723.1:c.800+456delCinsCAAA 82078831 60055289 Cor18956_DIV_20070510.chr19_43629719-43629724_2 2007.12.02 2007.12.02 2007.12.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38937864delC;NC_000019.9:g.38937864delCinsCAAA;NG_008866.1:g.18525delC;NG_008866.1:g.18525delCinsCAAA;NM_000540.2:c.800+456delC;NM_000540.2:c.800+456delCinsCAAA;NM_001042723.1:c.800+456delC;NM_001042723.1:c.800+456delCinsCAAA 95728325 60055289 1104685411585 2008.03.23 2008.12.03 2007.12.15 2011.09.09 137 BL 6261 NC_000019.9:g.38937864_38937867delCAAA;NG_008866.1:g.18525_18528delCAAA;NM_000540.2:c.800+456_800+459delCAAA;NM_001042723.1:c.800+456_800+459delCAAA 256205623 147870495 SNP3809_19_43629703 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38937864_38937867delCAAA;NG_008866.1:g.18525_18528delCAAA;NM_000540.2:c.800+456_800+459delCAAA;NM_001042723.1:c.800+456_800+459delCAAA 289387882 147870495 GMI_AK_INDEL_1065339 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937864_38937867delCAAA;NG_008866.1:g.18525_18528delCAAA;NM_000540.2:c.800+456_800+459delCAAA;NM_001042723.1:c.800+456_800+459delCAAA 327903737 147870495 JPTCHB_chr19_43629703_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937864_38937867delCAAA;NG_008866.1:g.18525_18528delCAAA;NM_000540.2:c.800+456_800+459delCAAA;NM_001042723.1:c.800+456_800+459delCAAA 328032177 147870495 CEU_chr19_43629703_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38937864_38937867delCAAA;NG_008866.1:g.18525_18528delCAAA;NM_000540.2:c.800+456_800+459delCAAA;NM_001042723.1:c.800+456_800+459delCAAA 328276218 147870495 YRI_chr19_43629703_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38937865delA;NC_000019.9:g.38937865delAinsAAAC;NG_008866.1:g.18526delA;NG_008866.1:g.18526delAinsAAAC;NM_000540.2:c.800+457delA;NM_000540.2:c.800+457delAinsAAAC;NM_001042723.1:c.800+457delA;NM_001042723.1:c.800+457delAinsAAAC 101094501 72131651 INDEL_GP36_2008a_2231042_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 PJP 6261 NC_000019.9:g.38937865delA;NC_000019.9:g.38937865delAinsAAAC;NG_008866.1:g.18526delA;NG_008866.1:g.18526delAinsAAAC;NM_000540.2:c.800+457delA;NM_000540.2:c.800+457delAinsAAAC;NM_001042723.1:c.800+457delA;NM_001042723.1:c.800+457delAinsAAAC 294962520 72131651 DIP_400224_chr19_43629709 2011.01.22 2011.01.22 2009.02.13 2011.07.08 137 PJP 6261 NC_000019.9:g.38937867_38937870delACAA;NG_008866.1:g.18528_18531delACAA;NM_000540.2:c.800+459_800+462delACAA;NM_001042723.1:c.800+459_800+462delACAA 294962521 142759401 DIP_400225_chr19_43629715 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 GMI 6261 NC_000019.9:g.38937880C>A;NG_008866.1:g.18541C>A;NM_000540.2:c.800+472C>A;NM_001042723.1:c.800+472C>A 283205834 200390433 GMI_AK_SNP_7526255 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.38937881A>C;NG_008866.1:g.18542A>C;NM_000540.2:c.800+473A>C;NM_001042723.1:c.800+473A>C 283205835 201233576 GMI_AK_SNP_7526256 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38937918C>T;NG_008866.1:g.18579C>T;NM_000540.2:c.800+510C>T;NM_001042723.1:c.800+510C>T 340454298 139711437 20100804_snps_12097839_chr19_38937918 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38937997G>A;NG_008866.1:g.18658G>A;NM_000540.2:c.800+589G>A;NM_001042723.1:c.800+589G>A 340454299 144357399 20100804_snps_12097840_chr19_38937997 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.38938057T>C;NG_008866.1:g.18718T>C;NM_000540.2:c.800+649T>C;NM_001042723.1:c.800+649T>C 155887247 79165769 GMI_SNP_74159672 1.33e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938057T>C;NG_008866.1:g.18718T>C;NM_000540.2:c.800+649T>C;NM_001042723.1:c.800+649T>C 228135544 79165769 pilot_1_YRI_9945227_chr19_43629897 1.33e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38938057T>C;NG_008866.1:g.18718T>C;NM_000540.2:c.800+649T>C;NM_001042723.1:c.800+649T>C 283205836 79165769 GMI_AK_SNP_7526257 1.33e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938074G>C;NG_008866.1:g.18735G>C;NM_000540.2:c.800+666G>C;NM_001042723.1:c.800+666G>C 340454300 146154943 20100804_snps_12097841_chr19_38938074 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38938132G>A;NG_008866.1:g.18793G>A;NM_000540.2:c.800+724G>A;NM_001042723.1:c.800+724G>A 340454301 148797046 20100804_snps_12097842_chr19_38938132 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38938159C>T;NG_008866.1:g.18820C>T;NM_000540.2:c.800+751C>T;NM_001042723.1:c.800+751C>T 17618163 11880285 CSHL-HuCC-200402.chr19.NT_011109.15_11206377 3.70e-03 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38938159C>T;NG_008866.1:g.18820C>T;NM_000540.2:c.800+751C>T;NM_001042723.1:c.800+751C>T 41032080 11880285 hCV26218809 3.70e-03 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38938159C>T;NG_008866.1:g.18820C>T;NM_000540.2:c.800+751C>T;NM_001042723.1:c.800+751C>T 161878491 11880285 ENSSNP1527846 3.70e-03 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938159C>T;NG_008866.1:g.18820C>T;NM_000540.2:c.800+751C>T;NM_001042723.1:c.800+751C>T 340454302 11880285 20100804_snps_12097843_chr19_38938159 3.70e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38938203_38938204insG;NG_008866.1:g.18864_18865insG;NM_000540.2:c.801-792_801-791insG;NM_001042723.1:c.801-792_801-791insG 41012194 34522337 hCV32823821 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38938203C>T;NG_008866.1:g.18864C>T;NM_000540.2:c.801-792C>T;NM_001042723.1:c.801-792C>T 465586594 183194072 20101123_snps_11753824_chr19_38938203 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38938209C>T;NG_008866.1:g.18870C>T;NM_000540.2:c.801-786C>T;NM_001042723.1:c.801-786C>T 203750804 112774101 BUSHMAN-chr19-43630048 5.08e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938209C>T;NG_008866.1:g.18870C>T;NM_000540.2:c.801-786C>T;NM_001042723.1:c.801-786C>T 340454303 112774101 20100804_snps_12097844_chr19_38938209 5.08e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38938280A>G;NG_008866.1:g.18941A>G;NM_000540.2:c.801-715A>G;NM_001042723.1:c.801-715A>G 90969790 62118988 JWB-2965856 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 GMI 6261 NC_000019.9:g.38938339G>A;NG_008866.1:g.19000G>A;NM_000540.2:c.801-656G>A;NM_001042723.1:c.801-656G>A 155887255 75673276 GMI_SNP_120796087 9.60e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38938339G>A;NG_008866.1:g.19000G>A;NM_000540.2:c.801-656G>A;NM_001042723.1:c.801-656G>A 283205837 75673276 GMI_AK_SNP_7526258 9.60e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938339G>A;NG_008866.1:g.19000G>A;NM_000540.2:c.801-656G>A;NM_001042723.1:c.801-656G>A 340454304 75673276 20100804_snps_12097845_chr19_38938339 9.60e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938372C>T;NG_008866.1:g.19033C>T;NM_000540.2:c.801-623C>T;NM_001042723.1:c.801-623C>T 465586595 186693581 20101123_snps_11753825_chr19_38938372 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 14970860 10552731 INDEL_GP34_WGS_51083 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 50110235 10552731 INDEL_GP35_WGS_317225 2006.01.24 2006.01.24 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38938482_38938484delAAA;NG_008866.1:g.19143_19145delAAA;NM_000540.2:c.801-513_801-511delAAA;NM_001042723.1:c.801-513_801-511delAAA 95728326 67660263 1104685411586 2008.03.23 2008.12.03 2009.02.06 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 99793456 10552731 INDEL_GP36_2007a_441165_0 2008.05.06 2008.05.06 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482_38938484delAAA;NG_008866.1:g.19143_19145delAAA;NM_000540.2:c.801-513_801-511delAAA;NM_001042723.1:c.801-513_801-511delAAA 100285737 67660263 INDEL_GP36_2008a_1402626_0 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482_38938484delAAA;NG_008866.1:g.19143_19145delAAA;NM_000540.2:c.801-513_801-511delAAA;NM_001042723.1:c.801-513_801-511delAAA 100285739 67660263 INDEL_GP36_2008a_1402626_1 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 100392694 10552731 INDEL_GP36_2008a_1629611_0 2008.05.16 2008.05.16 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 100392697 10552731 INDEL_GP36_2008a_1629611_1 2008.05.16 2008.05.16 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 100392700 10552731 INDEL_GP36_2008a_1629611_2 2008.05.16 2008.05.16 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 100392703 10552731 INDEL_GP36_2008a_1629611_3 2008.05.16 2008.05.16 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 102475503 10552731 INDEL_GP36_2008a_2642678_0 2008.05.18 2008.05.18 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 102625915 10552731 INDEL_GP36_2008a_2770306_0 2008.05.18 2008.05.18 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38938482_38938485delAAAA;NG_008866.1:g.19143_19146delAAAA;NM_000540.2:c.801-513_801-510delAAAA;NM_001042723.1:c.801-513_801-510delAAAA 103616553 80333722 JWB-4066185 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 288525669 10552731 GMI_NA10851_INDEL_296295 2010.12.22 2010.12.22 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38938482_38938484delAAA;NG_008866.1:g.19143_19145delAAA;NM_000540.2:c.801-513_801-511delAAA;NM_001042723.1:c.801-513_801-511delAAA 289387883 67660263 GMI_AK_INDEL_1065340 2010.12.30 2011.12.30 2009.02.06 2012.11.28 137 PJP 6261 NC_000019.9:g.38938482delA;NC_000019.9:g.38938482delAinsAAA;NG_008866.1:g.19143delA;NG_008866.1:g.19143delAinsAAA;NM_000540.2:c.801-513delA;NM_000540.2:c.801-513delAinsAAA;NM_001042723.1:c.801-513delA;NM_001042723.1:c.801-513delAinsAAA 294962522 10552731 DIP_400226_chr19_43630322 2011.01.22 2011.01.22 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38938482_38938484delAAA;NG_008866.1:g.19143_19145delAAA;NM_000540.2:c.801-513_801-511delAAA;NM_001042723.1:c.801-513_801-511delAAA 294962523 67660263 DIP_400227_chr19_43630336 2011.01.22 2011.01.22 2009.02.06 2012.11.28 137 BL 6261 NC_000019.9:g.38938496A>C;NG_008866.1:g.19157A>C;NM_000540.2:c.801-499A>C;NM_001042723.1:c.801-499A>C 255668073 141710503 SNP49560_19_43630336 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 77845477 55754306 Cor12156_DIV_20070510.chr19_43630337-43630339_1 2007.10.15 2007.10.15 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 77884853 55754306 Cor12156_DIV_20070510.chr19_43630335-43630339_1 2007.10.15 2007.10.15 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 77933055 55754306 Cor12156_DIV_20070510.chr19_43630335-43630339_2 2007.10.16 2007.10.16 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 77971381 55754306 Cor12156_DIV_20070510.chr19_43630337-43630339_2 2007.10.16 2007.10.16 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 81570317 55754306 Cor19129_DIV_20070510.chr19_43630335-43630339_1 2007.11.30 2007.11.30 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 82133537 55754306 Cor18555_DIV_20070510.chr19_43630335-43630339_1 2007.12.02 2007.12.02 2007.12.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38938498delA;NC_000019.9:g.38938498delAinsAAA;NG_008866.1:g.19159delA;NG_008866.1:g.19159delAinsAAA;NM_000540.2:c.801-497delA;NM_000540.2:c.801-497delAinsAAA;NM_001042723.1:c.801-497delA;NM_001042723.1:c.801-497delAinsAAA 83829596 55754306 Cor18517_DIV_20070510.chr19_43630335-43630339_1 2007.12.05 2007.12.05 2007.12.06 2012.05.16 137 1000GENOMES 6261 NC_000019.9:g.38938594A>G;NG_008866.1:g.19255A>G;NM_000540.2:c.801-401A>G;NM_001042723.1:c.801-401A>G 228135545 116620791 pilot_1_YRI_9945228_chr19_43630434 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38938594A>G;NG_008866.1:g.19255A>G;NM_000540.2:c.801-401A>G;NM_001042723.1:c.801-401A>G 482341224 116620791 HumanOmni2.5-4v1_D_kgp21470114-0_B_R_1844292512 6.00e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38938594A>G;NG_008866.1:g.19255A>G;NM_000540.2:c.801-401A>G;NM_001042723.1:c.801-401A>G 483825876 116620791 HumanOmni2.5-4v1_B_SNP19-43630434-0_B_R_1637715020 6.00e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938693C>T;NG_008866.1:g.19354C>T;NM_000540.2:c.801-302C>T;NM_001042723.1:c.801-302C>T 340454305 145473365 20100804_snps_12097846_chr19_38938693 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38938787C>T;NG_008866.1:g.19448C>T;NM_000540.2:c.801-208C>T;NM_001042723.1:c.801-208C>T 211962539 77893602 YRI.trio.3.2010_1440208_chr19_43630627 3.11e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938787C>T;NG_008866.1:g.19448C>T;NM_000540.2:c.801-208C>T;NM_001042723.1:c.801-208C>T 228135546 77893602 pilot_1_YRI_9945229_chr19_43630627 3.11e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38938787C>T;NG_008866.1:g.19448C>T;NM_000540.2:c.801-208C>T;NM_001042723.1:c.801-208C>T 483813973 77893602 HumanOmni2.5-4v1_D_kgp6923914-0_B_F_1816268236 3.11e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38938787C>T;NG_008866.1:g.19448C>T;NM_000540.2:c.801-208C>T;NM_001042723.1:c.801-208C>T 483825878 77893602 HumanOmni2.5-4v1_B_SNP19-43630627-0_B_F_1622631723 3.11e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38938797T>G;NG_008866.1:g.19458T>G;NM_000540.2:c.801-198T>G;NM_001042723.1:c.801-198T>G 465586596 191557227 20101123_snps_11753826_chr19_38938797 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38938828T>G;NG_008866.1:g.19489T>G;NM_000540.2:c.801-167T>G;NM_001042723.1:c.801-167T>G 283205838 201610130 GMI_AK_SNP_7526259 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38938913A>G;NG_008866.1:g.19574A>G;NM_000540.2:c.801-82A>G;NM_001042723.1:c.801-82A>G 340454306 147685023 20100804_snps_12097847_chr19_38938913 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38939019G>T;NG_008866.1:g.19680G>T;NM_000540.2:c.825G>T;NM_001042723.1:c.825G>T;NP_000531.2:p.Trp275Cys;NP_001036188.1:p.Trp275Cys 342496371 138687891 ESP2500-chr19-38939019 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38939025G>C;NG_008866.1:g.19686G>C;NM_000540.2:c.831G>C;NM_001042723.1:c.831G>C;NP_000531.2:p.Gln277His;NP_001036188.1:p.Gln277His 48401730 34004552 hCV25953929 2005.11.30 2005.11.30 2006.03.13 2011.09.09 137 EXOME_CHIP 6261 NC_000019.9:g.38939039G>A;NG_008866.1:g.19700G>A;NM_000540.2:c.845G>A;NM_001042723.1:c.845G>A;NP_000531.2:p.Arg282Gln;NP_001036188.1:p.Arg282Gln 491546418 201164249 nonsyn_262644_chr_19_38939039 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38939044G>A;NG_008866.1:g.19705G>A;NM_000540.2:c.850G>A;NM_001042723.1:c.850G>A;NP_000531.2:p.Val284Ile;NP_001036188.1:p.Val284Ile 489164340 201388370 20110521_exome_255565_chr19_38939044 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939053G>C;NG_008866.1:g.19714G>C;NM_000540.2:c.859G>C;NM_001042723.1:c.859G>C;NP_000531.2:p.Gly287Arg;NP_001036188.1:p.Gly287Arg 489164343 201292282 20110521_exome_255566_chr19_38939053 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939066C>T;NG_008866.1:g.19727C>T;NM_000540.2:c.872C>T;NM_001042723.1:c.872C>T;NP_000531.2:p.Ala291Val;NP_001036188.1:p.Ala291Val 489164345 200572262 20110521_exome_255567_chr19_38939066 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38939066C>T;NG_008866.1:g.19727C>T;NM_000540.2:c.872C>T;NM_001042723.1:c.872C>T;NP_000531.2:p.Ala291Val;NP_001036188.1:p.Ala291Val 491546419 200572262 nonsyn_262645_chr_19_38939066 9.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 3176129 2229140 WIAF-14803 2.70e-03 unknown untested 2001.06.28 2003.10.10 2001.08.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 48401729 2229140 hCV16172110 2.70e-03 germline untested 2005.11.30 2005.11.30 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 75083778 2229140 ILMN_Human_1M_rs2229140 2.70e-03 germline untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 119421970 2229140 KHS1584217 2.70e-03 germline untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 173192960 2229140 Human1M-Duov3_B_rs2229140-128_T_F_1514040030 2.70e-03 unknown untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 342496372 2229140 ESP2500-chr19-38939067 2.70e-03 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.873G>A NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 475871441 2229140 RYR1_00290 2.70e-03 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939067G>A;NG_008866.1:g.19728G>A;NM_000540.2:c.873G>A;NM_001042723.1:c.873G>A;NP_000531.2:p.Ala291=;NP_001036188.1:p.Ala291= 489164347 2229140 20110521_exome_255568_chr19_38939067 2.70e-03 unknown untested 2012.02.14 2012.02.14 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38939091G>C;NG_008866.1:g.19752G>C;NM_000540.2:c.897G>C;NM_001042723.1:c.897G>C;NP_000531.2:p.Val299=;NP_001036188.1:p.Val299= 159739615 76854339 RYR1-43630931 7.30e-03 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939091G>C;NG_008866.1:g.19752G>C;NM_000540.2:c.897G>C;NM_001042723.1:c.897G>C;NP_000531.2:p.Val299=;NP_001036188.1:p.Val299= 228135547 76854339 pilot_1_YRI_9945230_chr19_43630931 7.30e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38939091G>C;NG_008866.1:g.19752G>C;NM_000540.2:c.897G>C;NM_001042723.1:c.897G>C;NP_000531.2:p.Val299=;NP_001036188.1:p.Val299= 342496373 76854339 ESP2500-chr19-38939091 7.30e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939091G>C;NG_008866.1:g.19752G>C;NM_000540.2:c.897G>C;NM_001042723.1:c.897G>C;NP_000531.2:p.Val299=;NP_001036188.1:p.Val299= 491157912 76854339 20110521_exome_665710_chr19_38939091 7.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38939091G>C;NG_008866.1:g.19752G>C;NM_000540.2:c.897G>C;NM_001042723.1:c.897G>C;NP_000531.2:p.Val299=;NP_001036188.1:p.Val299= 491546420 76854339 synctl_262646_chr_19_38939091 7.30e-03 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939100C>T;NG_008866.1:g.19761C>T;NM_000540.2:c.906C>T;NM_001042723.1:c.906C>T;NP_000531.2:p.Asp302=;NP_001036188.1:p.Asp302= 340454308 145943283 20100804_snps_12097849_chr19_38939100 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38939100C>T;NG_008866.1:g.19761C>T;NM_000540.2:c.906C>T;NM_001042723.1:c.906C>T;NP_000531.2:p.Asp302=;NP_001036188.1:p.Asp302= 342496374 145943283 ESP2500-chr19-38939100 8.70e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939100C>T;NG_008866.1:g.19761C>T;NM_000540.2:c.906C>T;NM_001042723.1:c.906C>T;NP_000531.2:p.Asp302=;NP_001036188.1:p.Asp302= 491157913 145943283 20110521_exome_665711_chr19_38939100 8.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38939101G>A;NG_008866.1:g.19762G>A;NM_000540.2:c.907G>A;NM_001042723.1:c.907G>A;NP_000531.2:p.Ala303Thr;NP_001036188.1:p.Ala303Thr 342496375 141764906 ESP2500-chr19-38939101 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GMI 6261 NC_000019.9:g.38939141G>T;NG_008866.1:g.19802G>T;NM_000540.2:c.947G>T;NM_001042723.1:c.947G>T;NP_000531.2:p.Arg316Leu;NP_001036188.1:p.Arg316Leu 283205839 193922761 GMI_AK_SNP_7526260 5.00e-04 unknown untested 2010.12.16 2010.12.16 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.947G>T NC_000019.9:g.38939141G>T;NG_008866.1:g.19802G>T;NM_000540.2:c.947G>T;NM_001042723.1:c.947G>T;NP_000531.2:p.Arg316Leu;NP_001036188.1:p.Arg316Leu 475871442 193922761 RYR1_00119 5.00e-04 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939141G>T;NG_008866.1:g.19802G>T;NM_000540.2:c.947G>T;NM_001042723.1:c.947G>T;NP_000531.2:p.Arg316Leu;NP_001036188.1:p.Arg316Leu 489164349 193922761 20110521_exome_255569_chr19_38939141 5.00e-04 germline untested 2012.02.14 2012.02.14 2011.11.25 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939145C>T;NG_008866.1:g.19806C>T;NM_000540.2:c.951C>T;NM_001042723.1:c.951C>T;NP_000531.2:p.Ile317=;NP_001036188.1:p.Ile317= 340454309 138968996 20100804_snps_12097850_chr19_38939145 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939145C>T;NG_008866.1:g.19806C>T;NM_000540.2:c.951C>T;NM_001042723.1:c.951C>T;NP_000531.2:p.Ile317=;NP_001036188.1:p.Ile317= 491157914 138968996 20110521_exome_665712_chr19_38939145 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.982C>T NC_000019.9:g.38939313C>T;NG_008866.1:g.19974C>T;NM_000540.2:c.982C>T;NM_001042723.1:c.982C>T;NP_000531.2:p.Arg328Trp;NP_001036188.1:p.Arg328Trp 475871443 193922762 RYR1_00177 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38939319G>A;NG_008866.1:g.19980G>A;NM_000540.2:c.988G>A;NM_001042723.1:c.988G>A;NP_000531.2:p.Val330Met;NP_001036188.1:p.Val330Met 342496376 150562985 ESP2500-chr19-38939319 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.38939345C>A;NG_008866.1:g.20006C>A;NM_000540.2:c.1014C>A;NM_001042723.1:c.1014C>A;NP_000531.2:p.Ile338=;NP_001036188.1:p.Ile338= 12452423 8101510 chr19.NT_011109.15_11207563 unknown untested 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1014C>A NC_000019.9:g.38939345C>A;NG_008866.1:g.20006C>A;NM_000540.2:c.1014C>A;NM_001042723.1:c.1014C>A;NP_000531.2:p.Ile338=;NP_001036188.1:p.Ile338= 475871444 8101510 RYR1_00004 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 OMIM-CURATED-RECORDS 6261 NM_000540.2:c.1021G>A NC_000019.9:g.38939352G>A;NC_000019.9:g.38939352G>C;NG_008866.1:g.20013G>A;NG_008866.1:g.20013G>C;NM_000540.2:c.1021G>A;NM_000540.2:c.1021G>C;NM_001042723.1:c.1021G>A;NM_001042723.1:c.1021G>C;NP_000531.2:p.Gly341Arg;NP_001036188.1:p.Gly341Arg 275518432 121918592 5301 unknown untested 2010.12.08 2010.12.08 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1021G>A NC_000019.9:g.38939352G>A;NC_000019.9:g.38939352G>C;NG_008866.1:g.20013G>A;NG_008866.1:g.20013G>C;NM_000540.2:c.1021G>A;NM_000540.2:c.1021G>C;NM_001042723.1:c.1021G>A;NM_001042723.1:c.1021G>C;NP_000531.2:p.Gly341Arg;NP_001036188.1:p.Gly341Arg 475871445 121918592 RYR1_00087 unknown other 2011.11.25 2011.11.25 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1021G>C NC_000019.9:g.38939352G>A;NC_000019.9:g.38939352G>C;NG_008866.1:g.20013G>A;NG_008866.1:g.20013G>C;NM_000540.2:c.1021G>A;NM_000540.2:c.1021G>C;NM_001042723.1:c.1021G>A;NM_001042723.1:c.1021G>C;NP_000531.2:p.Gly341Arg;NP_001036188.1:p.Gly341Arg 475871446 121918592 RYR1_00189 unknown other 2011.11.25 2011.11.25 2010.12.08 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38939370G>A;NG_008866.1:g.20031G>A;NM_000540.2:c.1039G>A;NM_001042723.1:c.1039G>A;NP_000531.2:p.Val347Met;NP_001036188.1:p.Val347Met 342496377 138647682 ESP2500-chr19-38939370 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.38939402C>T;NG_008866.1:g.20063C>T;NM_000540.2:c.1071C>T;NM_001042723.1:c.1071C>T;NP_000531.2:p.Thr357=;NP_001036188.1:p.Thr357= 161878492 77654389 ENSSNP1527848 2009.09.26 2009.09.26 2009.12.01 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 14697587 10406027 chr19.NT_011109.15_11207626 6.78e-02 germline untested 2003.11.10 2003.11.22 2003.12.05 2013.01.22 137 CSHL-HAPMAP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 16788118 10406027 CSHL-HuAA-200402.chr19.NT_011109.15_11207626 6.78e-02 germline untested 2004.02.18 2004.03.04 2003.12.05 2013.01.22 137 CSHL-HAPMAP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 20062847 10406027 CSHL-HuFF-200402.chr19.NT_011109.15_11207626 6.78e-02 unknown untested 2004.02.22 2004.03.04 2003.12.05 2013.01.22 137 SSAHASNP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 21525382 10406027 WGSA-200403-chr19.chr19.NT_011109.15_11207626 6.78e-02 germline untested 2004.03.20 2004.03.20 2003.12.05 2013.01.22 137 APPLERA_GI 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 48401731 10406027 hCV25630479 6.78e-02 germline untested 2005.11.30 2006.11.03 2003.12.05 2013.01.22 137 HGSV 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 83867986 10406027 Cor18956_SNV_20070510.chr19_43631248 6.78e-02 germline untested 2007.12.05 2007.12.05 2003.12.05 2013.01.22 137 HGSV 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 85798318 10406027 Cor18517_SNV_20070510.chr19_43631248 6.78e-02 unknown untested 2007.12.10 2007.12.10 2003.12.05 2013.01.22 137 BCMHGSC_JDW 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 90969792 10406027 JWB-1168146 6.78e-02 unknown untested 2008.03.01 2008.03.01 2003.12.05 2013.01.22 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 96266939 10406027 1103691141744 6.78e-02 germline untested 2008.03.26 2008.03.26 2003.12.05 2013.01.22 137 BGI 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 106055011 10406027 BGI_rs10406027 6.78e-02 germline untested 2008.09.13 2009.06.17 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 111365097 10406027 CEU.trio.12.15.2008_3616574_chr19_43631248 6.78e-02 germline untested 2008.12.17 2008.12.17 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 115119884 10406027 NA19240_2008_12_16_3257526_chr19_43631248 6.78e-02 unknown untested 2008.12.19 2008.12.19 2003.12.05 2013.01.22 137 ILLUMINA-UK 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 117702463 10406027 NA18507_000043826_NCBI36.1_chr19_43631248 6.78e-02 unknown untested 2009.01.20 2009.01.20 2003.12.05 2013.01.22 137 ENSEMBL 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 136267648 10406027 ENSSNP1527849 6.78e-02 unknown untested 2009.05.15 2009.10.15 2003.12.05 2013.01.22 137 ENSEMBL 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 137670199 10406027 ENSSNP5636718 6.78e-02 germline untested 2009.05.16 2009.05.16 2003.12.05 2013.01.22 137 GMI 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 155887264 10406027 GMI_SNP_74170698 6.78e-02 germline untested 2009.06.24 2009.06.24 2003.12.05 2013.01.22 137 SEATTLESEQ 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 159739616 10406027 RYR1-43631248 6.78e-02 germline untested 2009.07.10 2009.07.10 2003.12.05 2013.01.22 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 168182487 10406027 NA07022_36_chr19_43631248 6.78e-02 germline untested 2009.09.30 2009.09.30 2003.12.05 2013.01.22 137 ILLUMINA 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 169117053 10406027 Human1M-Duov3_B_GA034474-0_B_F_1533479100 6.78e-02 germline untested 2009.10.01 2009.10.01 2003.12.05 2013.01.22 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 169705902 10406027 NA19240_36_chr19_43631248 6.78e-02 unknown untested 2009.10.01 2009.10.01 2003.12.05 2013.01.22 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 171754012 10406027 NA20431_36_chr19_43631248 6.78e-02 germline untested 2009.10.01 2009.10.01 2003.12.05 2013.01.22 137 BUSHMAN 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 203750805 10406027 BUSHMAN-chr19-43631247 6.78e-02 unknown untested 2010.03.09 2010.03.09 2003.12.05 2013.01.22 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 208504193 10406027 BCM_CMT_1011-3125771 6.78e-02 germline untested 2010.03.19 2010.03.19 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 228135548 10406027 pilot_1_YRI_9945231_chr19_43631248 6.78e-02 germline untested 2010.04.22 2010.04.22 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 237674072 10406027 pilot_1_CEU_7278701_chr19_43631248 6.78e-02 germline untested 2010.05.01 2010.05.01 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 243880881 10406027 pilot_1_CHB+JPT_5765958_chr19_43631248 6.78e-02 unknown untested 2010.05.01 2010.05.01 2003.12.05 2013.01.22 137 BL 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 255668078 10406027 SNP49561_19_43631248 6.78e-02 germline untested 2010.08.20 2010.08.20 2003.12.05 2013.01.22 137 GMI 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 283205840 10406027 GMI_AK_SNP_7526261 6.78e-02 germline untested 2010.12.16 2010.12.16 2003.12.05 2013.01.22 137 PJP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 292248445 10406027 SNP_1754803_chr19_43631248 6.78e-02 germline untested 2011.01.21 2011.01.21 2003.12.05 2013.01.22 137 NHLBI-ESP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 342496378 10406027 ESP2500-chr19-38939408 6.78e-02 unknown untested 2011.03.27 2011.03.27 2003.12.05 2013.01.22 137 LUMC-LOVD 6261 NM_000540.2:c.1077T>C NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 475871447 10406027 RYR1_00038 6.78e-02 germline untested 2011.11.25 2011.11.25 2003.12.05 2013.01.22 137 1000GENOMES 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 491157915 10406027 20110521_exome_665713_chr19_38939408 6.78e-02 unknown untested 2012.02.22 2012.02.22 2003.12.05 2013.01.22 137 CLINSEQ_SNP 6261 NC_000019.9:g.38939408T>C;NG_008866.1:g.20069T>C;NM_000540.2:c.1077T>C;NM_001042723.1:c.1077T>C;NP_000531.2:p.Ala359=;NP_001036188.1:p.Ala359= 491766125 10406027 SNV-chr19-43631248 6.78e-02 unknown untested 2012.03.07 2012.03.13 2003.12.05 2013.01.22 137 NHLBI-ESP 6261 NC_000019.9:g.38939422A>C;NG_008866.1:g.20083A>C;NM_000540.2:c.1091A>C;NM_001042723.1:c.1091A>C;NP_000531.2:p.Lys364Thr;NP_001036188.1:p.Lys364Thr 342496379 146085956 ESP2500-chr19-38939422 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38939430C>T;NG_008866.1:g.20091C>T;NM_000540.2:c.1099C>T;NM_001042723.1:c.1099C>T;NP_000531.2:p.Arg367Trp;NP_001036188.1:p.Arg367Trp 342496380 140037232 ESP2500-chr19-38939430 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38939430C>T;NG_008866.1:g.20091C>T;NM_000540.2:c.1099C>T;NM_001042723.1:c.1099C>T;NP_000531.2:p.Arg367Trp;NP_001036188.1:p.Arg367Trp 491766126 140037232 SNV-chr19-43631270 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 POPS 6261 NC_000019.9:g.38939431G>A;NC_000019.9:g.38939431G>T;NG_008866.1:g.20092G>A;NG_008866.1:g.20092G>T;NM_000540.2:c.1100G>A;NM_000540.2:c.1100G>T;NM_001042723.1:c.1100G>A;NM_001042723.1:c.1100G>T;NP_000531.2:p.Arg367Gln;NP_000531.2:p.Arg367Leu;NP_001036188.1:p.Arg367Gln;NP_001036188.1:p.Arg367Leu 182258903 113332073 MHY3 germline untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1100G>A NC_000019.9:g.38939431G>A;NC_000019.9:g.38939431G>T;NG_008866.1:g.20092G>A;NG_008866.1:g.20092G>T;NM_000540.2:c.1100G>A;NM_000540.2:c.1100G>T;NM_001042723.1:c.1100G>A;NM_001042723.1:c.1100G>T;NP_000531.2:p.Arg367Gln;NP_000531.2:p.Arg367Leu;NP_001036188.1:p.Arg367Gln;NP_001036188.1:p.Arg367Leu 475871448 113332073 RYR1_00139 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1100G>T NC_000019.9:g.38939431G>A;NC_000019.9:g.38939431G>T;NG_008866.1:g.20092G>A;NG_008866.1:g.20092G>T;NM_000540.2:c.1100G>A;NM_000540.2:c.1100G>T;NM_001042723.1:c.1100G>A;NM_001042723.1:c.1100G>T;NP_000531.2:p.Arg367Gln;NP_000531.2:p.Arg367Leu;NP_001036188.1:p.Arg367Gln;NP_001036188.1:p.Arg367Leu 475871449 113332073 RYR1_00312 unknown untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1116G>A NC_000019.9:g.38939447G>A;NG_008866.1:g.20108G>A;NM_000540.2:c.1116G>A;NM_001042723.1:c.1116G>A;NP_000531.2:p.Lys372=;NP_001036188.1:p.Lys372= 475871450 193922763 RYR1_00305 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38939470C>T;NG_008866.1:g.20131C>T;NM_000540.2:c.1122+17C>T;NM_001042723.1:c.1122+17C>T 489164351 200890425 20110521_exome_255570_chr19_38939470 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38939497C>T;NG_008866.1:g.20158C>T;NM_000540.2:c.1122+44C>T;NM_001042723.1:c.1122+44C>T 12452807 8101724 chr19.NT_011109.15_11207715 germline untested 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1122+44C>T NC_000019.9:g.38939497C>T;NG_008866.1:g.20158C>T;NM_000540.2:c.1122+44C>T;NM_001042723.1:c.1122+44C>T 475871451 8101724 RYR1_00334 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 6017061 4476278 NT_011233.10_1094501 1.01e-02 germline untested 2003.01.12 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 12454204 4476278 chr19.NT_011109.15_11207723 1.01e-02 unknown untested 2003.07.04 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 14697948 4476278 chr19.NT_011109.15_11207723 1.01e-02 germline untested 2003.11.10 2003.11.22 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 16788240 4476278 CSHL-HuAA-200402.chr19.NT_011109.15_11207723 1.01e-02 germline untested 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 20062896 4476278 CSHL-HuFF-200402.chr19.NT_011109.15_11207723 1.01e-02 germline untested 2004.02.22 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 21526294 4476278 WGSA-200403-chr19.chr19.NT_011109.15_11207723 1.01e-02 germline untested 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 52078916 4476278 NT_011109.15_11207723 1.01e-02 unknown untested 2006.03.29 2006.03.29 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 82446464 4476278 Cor18956_SNV_20070510.chr19_43631345 1.01e-02 unknown untested 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 84879874 4476278 Cor18517_SNV_20070510.chr19_43631345 1.01e-02 germline untested 2007.12.08 2007.12.08 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 90969795 4476278 JWB-1168147 1.01e-02 germline untested 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 106055012 4476278 BGI_rs4476278 1.01e-02 germline untested 2008.09.13 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 111365104 4476278 CEU.trio.12.15.2008_3616575_chr19_43631345 1.01e-02 unknown untested 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 136267645 4476278 ENSSNP1527850 1.01e-02 unknown untested 2009.05.15 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 137670201 4476278 ENSSNP6956861 1.01e-02 germline untested 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 155887269 4476278 GMI_SNP_221669820 1.01e-02 germline untested 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 168182501 4476278 NA07022_36_chr19_43631345 1.01e-02 germline untested 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 169705923 4476278 NA19240_36_chr19_43631345 1.01e-02 germline untested 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 203750806 4476278 BUSHMAN-chr19-43631344 1.01e-02 germline untested 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 208503789 4476278 BCM_CMT_1011-3125636 1.01e-02 germline untested 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 228135549 4476278 pilot_1_YRI_9945232_chr19_43631345 1.01e-02 unknown untested 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 237674073 4476278 pilot_1_CEU_7278702_chr19_43631345 1.01e-02 germline untested 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 243880882 4476278 pilot_1_CHB+JPT_5765959_chr19_43631345 1.01e-02 germline untested 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 255668085 4476278 SNP49562_19_43631345 1.01e-02 unknown untested 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 283205841 4476278 GMI_AK_SNP_7526262 1.01e-02 germline untested 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 292248446 4476278 SNP_1754804_chr19_43631345 1.01e-02 unknown untested 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1122+52T>C NC_000019.9:g.38939505T>C;NG_008866.1:g.20166T>C;NM_000540.2:c.1122+52T>C;NM_001042723.1:c.1122+52T>C 475871452 4476278 RYR1_00333 1.01e-02 germline untested 2011.11.25 2011.11.25 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38939548T>C;NG_008866.1:g.20209T>C;NM_000540.2:c.1122+95T>C;NM_001042723.1:c.1122+95T>C 12454242 8102524 chr19.NT_011109.15_11207766 germline untested 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1122+95T>C NC_000019.9:g.38939548T>C;NG_008866.1:g.20209T>C;NM_000540.2:c.1122+95T>C;NM_001042723.1:c.1122+95T>C 475871453 8102524 RYR1_00335 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939642A>G;NG_008866.1:g.20303A>G;NM_000540.2:c.1122+189A>G;NM_001042723.1:c.1122+189A>G 465586597 183264432 20101123_snps_11753827_chr19_38939642 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.38939646T>C;NG_008866.1:g.20307T>C;NM_000540.2:c.1122+193T>C;NM_001042723.1:c.1122+193T>C 12454476 8102663 chr19.NT_011109.15_11207864 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38939712_38939713delGA;NG_008866.1:g.20373_20374delGA;NM_000540.2:c.1122+259_1122+260delGA;NM_001042723.1:c.1122+259_1122+260delGA 327903740 143389189 JPTCHB_chr19_43631551_indel 6.09e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939712_38939713delGA;NG_008866.1:g.20373_20374delGA;NM_000540.2:c.1122+259_1122+260delGA;NM_001042723.1:c.1122+259_1122+260delGA 328032178 143389189 CEU_chr19_43631551_indel 6.09e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939712_38939713delGA;NG_008866.1:g.20373_20374delGA;NM_000540.2:c.1122+259_1122+260delGA;NM_001042723.1:c.1122+259_1122+260delGA 328276219 143389189 YRI_chr19_43631551_indel 6.09e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38939712_38939713delGA;NG_008866.1:g.20373_20374delGA;NM_000540.2:c.1122+259_1122+260delGA;NM_001042723.1:c.1122+259_1122+260delGA 499576226 143389189 20110316_indels_chr19_38939711_38939712 6.09e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38939818G>A;NG_008866.1:g.20479G>A;NM_000540.2:c.1122+365G>A;NM_001042723.1:c.1122+365G>A 203750807 113198293 BUSHMAN-chr19-43631657 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38939828G>A;NG_008866.1:g.20489G>A;NM_000540.2:c.1122+375G>A;NM_001042723.1:c.1122+375G>A 465586598 187979219 20101123_snps_11753828_chr19_38939828 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38939902C>A;NG_008866.1:g.20563C>A;NM_000540.2:c.1122+449C>A;NM_001042723.1:c.1122+449C>A 465586599 192804389 20101123_snps_11753829_chr19_38939902 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38939964G>A;NG_008866.1:g.20625G>A;NM_000540.2:c.1122+511G>A;NM_001042723.1:c.1122+511G>A 465586600 185312519 20101123_snps_11753830_chr19_38939964 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.38939981_38939982insC;NG_008866.1:g.20642_20643insC;NM_000540.2:c.1122+528_1122+529insC;NM_001042723.1:c.1122+528_1122+529insC 40982189 34731127 hCV32823824 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38940041G>A;NG_008866.1:g.20702G>A;NM_000540.2:c.1122+588G>A;NM_001042723.1:c.1122+588G>A 465586601 190141500 20101123_snps_11753831_chr19_38940041 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 20069086 12610496 CSHL-HuFF-200402.chr19.NT_011109.15_11208300 1.49e-01 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 41006326 12610496 hCV7821779 1.49e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 103437706 12610496 BGI_rs12610496 1.49e-01 2008.06.06 2009.06.17 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 171754023 12610496 NA20431_36_chr19_43631922 1.49e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 208472095 12610496 BCM_CMT_1011-3114895 1.49e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 237674074 12610496 pilot_1_CEU_7278703_chr19_43631922 1.49e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 243880883 12610496 pilot_1_CHB+JPT_5765960_chr19_43631922 1.49e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38940082C>T;NG_008866.1:g.20743C>T;NM_000540.2:c.1122+629C>T;NM_001042723.1:c.1122+629C>T 283205842 12610496 GMI_AK_SNP_7526263 1.49e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38940083_38940084delAA;NG_008866.1:g.20744_20745delAA;NM_000540.2:c.1122+630_1122+631delAA;NM_001042723.1:c.1122+630_1122+631delAA 155772206 74650339 GMI_INDEL-156340 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38940083_38940084delAA;NG_008866.1:g.20744_20745delAA;NM_000540.2:c.1122+630_1122+631delAA;NM_001042723.1:c.1122+630_1122+631delAA 289387884 74650339 GMI_AK_INDEL_1065341 2010.12.30 2011.12.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940096C>A;NG_008866.1:g.20757C>A;NM_000540.2:c.1122+643C>A;NM_001042723.1:c.1122+643C>A 340454311 143460364 20100804_snps_12097852_chr19_38940096 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38940097G>A;NG_008866.1:g.20758G>A;NM_000540.2:c.1122+644G>A;NM_001042723.1:c.1122+644G>A 340454312 147987017 20100804_snps_12097853_chr19_38940097 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38940138_38940141delAGAG;NG_008866.1:g.20799_20802delAGAG;NM_000540.2:c.1122+685_1122+688delAGAG;NM_001042723.1:c.1122+685_1122+688delAGAG 499576229 200673513 20110316_indels_chr19_38940137_38940140 8.70e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940193A>G;NG_008866.1:g.20854A>G;NM_000540.2:c.1122+740A>G;NM_001042723.1:c.1122+740A>G 340454313 141610573 20100804_snps_12097854_chr19_38940193 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38940209C>T;NG_008866.1:g.20870C>T;NM_000540.2:c.1122+756C>T;NM_001042723.1:c.1122+756C>T 228135550 115050327 pilot_1_YRI_9945233_chr19_43632049 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38940210G>A;NG_008866.1:g.20871G>A;NM_000540.2:c.1122+757G>A;NM_001042723.1:c.1122+757G>A 340454314 145971928 20100804_snps_12097855_chr19_38940210 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 14705866 10411456 chr19.NT_011109.15_11208447 1.07e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 16802643 10411456 CSHL-HuAA-200402.chr19.NT_011109.15_11208447 1.07e-01 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 17622666 10411456 CSHL-HuCC-200402.chr19.NT_011109.15_11208447 1.07e-01 2004.02.19 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 19405110 10411456 CSHL-HuDD-200402.chr19.NT_011109.15_11208447 1.07e-01 2004.02.21 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 20069125 10411456 CSHL-HuFF-200402.chr19.NT_011109.15_11208447 1.07e-01 2004.02.22 2004.03.04 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 21546696 10411456 WGSA-200403-chr19.chr19.NT_011109.15_11208447 1.07e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 78183065 10411456 Cor12878_SNV_20070510.chr19_43632069 1.07e-01 2007.10.18 2007.10.18 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 90969797 10411456 JWB-1168148 1.07e-01 2008.03.01 2008.03.01 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 96266940 10411456 1103691141745 1.07e-01 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 106055013 10411456 BGI_rs10411456 1.07e-01 2008.09.13 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 111365112 10411456 CEU.trio.12.15.2008_3616576_chr19_43632069 1.07e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 115119906 10411456 NA19240_2008_12_16_3257528_chr19_43632069 1.07e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 117702465 10411456 NA18507_000043827_NCBI36.1_chr19_43632069 1.07e-01 2009.01.20 2009.01.20 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 136267641 10411456 ENSSNP1527851 1.07e-01 2009.05.15 2009.10.15 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 137670205 10411456 ENSSNP11444272 1.07e-01 2009.05.16 2009.05.16 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 155887275 10411456 GMI_SNP_135272581 1.07e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 168182514 10411456 NA07022_36_chr19_43632069 1.07e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 169705942 10411456 NA19240_36_chr19_43632069 1.07e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 171754026 10411456 NA20431_36_chr19_43632069 1.07e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 203750808 10411456 BUSHMAN-chr19-43632068 1.07e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 208378418 10411456 BCM_CMT_1011-3083745 1.07e-01 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 228135551 10411456 pilot_1_YRI_9945234_chr19_43632069 1.07e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 237674075 10411456 pilot_1_CEU_7278704_chr19_43632069 1.07e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 243880884 10411456 pilot_1_CHB+JPT_5765961_chr19_43632069 1.07e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 255668088 10411456 SNP49563_19_43632069 1.07e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 283205843 10411456 GMI_AK_SNP_7526264 1.07e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38940229C>T;NG_008866.1:g.20890C>T;NM_000540.2:c.1122+776C>T;NM_001042723.1:c.1122+776C>T 292248447 10411456 SNP_1754805_chr19_43632069 1.07e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38940331G>A;NG_008866.1:g.20992G>A;NM_000540.2:c.1122+878G>A;NM_001042723.1:c.1122+878G>A 203750809 112290572 BUSHMAN-chr19-43632170 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38940372G>T;NG_008866.1:g.21033G>T;NM_000540.2:c.1122+919G>T;NM_001042723.1:c.1122+919G>T 340454315 138557087 20100804_snps_12097856_chr19_38940372 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38940397C>T;NG_008866.1:g.21058C>T;NM_000540.2:c.1122+944C>T;NM_001042723.1:c.1122+944C>T 340454316 143007874 20100804_snps_12097857_chr19_38940397 0 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.38940469_38940470delAG;NG_008866.1:g.21130_21131delAG;NM_000540.2:c.1122+1016_1122+1017delAG;NM_001042723.1:c.1122+1016_1122+1017delAG 289387885 150437941 GMI_AK_INDEL_1065342 4.67e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940469_38940470delAG;NG_008866.1:g.21130_21131delAG;NM_000540.2:c.1122+1016_1122+1017delAG;NM_001042723.1:c.1122+1016_1122+1017delAG 327903743 150437941 JPTCHB_chr19_43632308_indel 4.67e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38940469_38940470delAG;NG_008866.1:g.21130_21131delAG;NM_000540.2:c.1122+1016_1122+1017delAG;NM_001042723.1:c.1122+1016_1122+1017delAG 499576233 150437941 20110316_indels_chr19_38940468_38940469 4.67e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38940470delG;NC_000019.9:g.38940470delGinsAG;NG_008866.1:g.21131delG;NG_008866.1:g.21131delGinsAG;NM_000540.2:c.1122+1017delG;NM_000540.2:c.1122+1017delGinsAG;NM_001042723.1:c.1122+1017delG;NM_001042723.1:c.1122+1017delGinsAG 155772217 80284789 GMI_INDEL-156341 2009.06.24 2009.06.24 2009.12.01 2011.07.08 137 BGI 6261 NC_000019.9:g.38940472_38940473delGA;NC_000019.9:g.38940472_38940473delGAinsAG;NG_008866.1:g.21133_21134delGA;NG_008866.1:g.21133_21134delGAinsAG;NM_000540.2:c.1122+1019_1122+1020delGA;NM_000540.2:c.1122+1019_1122+1020delGAinsAG;NM_001042723.1:c.1122+1019_1122+1020delGA;NM_001042723.1:c.1122+1019_1122+1020delGAinsAG 104719100 79691574 BGI_YHIndel34219 2008.06.09 2009.06.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38941098G>A;NG_008866.1:g.21759G>A;NM_000540.2:c.1123-1306G>A;NM_001042723.1:c.1123-1306G>A 340454318 140023718 20100804_snps_12097859_chr19_38941098 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38941150G>A;NG_008866.1:g.21811G>A;NM_000540.2:c.1123-1254G>A;NM_001042723.1:c.1123-1254G>A 85381745 60068553 Cor19129_SNV_20070510.chr19_43632990 3.70e-03 2007.12.09 2007.12.09 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38941150G>A;NG_008866.1:g.21811G>A;NM_000540.2:c.1123-1254G>A;NM_001042723.1:c.1123-1254G>A 228135552 60068553 pilot_1_YRI_9945235_chr19_43632990 3.70e-03 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38941153_38941154delCT;NG_008866.1:g.21814_21815delCT;NM_000540.2:c.1123-1251_1123-1250delCT;NM_001042723.1:c.1123-1251_1123-1250delCT 499576237 199849519 20110316_indels_chr19_38941152_38941153 9.60e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941186G>A;NG_008866.1:g.21847G>A;NM_000540.2:c.1123-1218G>A;NM_001042723.1:c.1123-1218G>A 340454319 149846689 20100804_snps_12097860_chr19_38941186 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941203T>C;NG_008866.1:g.21864T>C;NM_000540.2:c.1123-1201T>C;NM_001042723.1:c.1123-1201T>C 14719564 10420290 chr19.NT_011109.15_11209421 6.40e-03 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941203T>C;NG_008866.1:g.21864T>C;NM_000540.2:c.1123-1201T>C;NM_001042723.1:c.1123-1201T>C 23007578 10420290 BCM_HTWF_SNPS_200403.chr19.NT_011109.15_11209421 6.40e-03 2004.03.22 2004.03.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941203T>C;NG_008866.1:g.21864T>C;NM_000540.2:c.1123-1201T>C;NM_001042723.1:c.1123-1201T>C 228135553 10420290 pilot_1_YRI_9945236_chr19_43633043 6.40e-03 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941211T>G;NG_008866.1:g.21872T>G;NM_000540.2:c.1123-1193T>G;NM_001042723.1:c.1123-1193T>G 340454320 144826237 20100804_snps_12097861_chr19_38941211 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38941240_38941241insG;NG_008866.1:g.21901_21902insG;NM_000540.2:c.1123-1164_1123-1163insG;NM_001042723.1:c.1123-1164_1123-1163insG 41032944 34505007 hCV32823825 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38941275A>G;NG_008866.1:g.21936A>G;NM_000540.2:c.1123-1129A>G;NM_001042723.1:c.1123-1129A>G 228135554 116713612 pilot_1_YRI_9945237_chr19_43633115 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38941318T>G;NG_008866.1:g.21979T>G;NM_000540.2:c.1123-1086T>G;NM_001042723.1:c.1123-1086T>G 117702467 73930578 NA18507_000043828_NCBI36.1_chr19_43633158 2.70e-03 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941318T>G;NG_008866.1:g.21979T>G;NM_000540.2:c.1123-1086T>G;NM_001042723.1:c.1123-1086T>G 340454321 73930578 20100804_snps_12097862_chr19_38941318 2.70e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941355G>A;NG_008866.1:g.22016G>A;NM_000540.2:c.1123-1049G>A;NM_001042723.1:c.1123-1049G>A 465586602 192902958 20101123_snps_11753832_chr19_38941355 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38941401A>G;NG_008866.1:g.22062A>G;NM_000540.2:c.1123-1003A>G;NM_001042723.1:c.1123-1003A>G 283205844 201862171 GMI_AK_SNP_7526265 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 HGSV 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 81089387 59599725 Cor18956_DIV_20070510.chr19_43633243-43633245_1 7.92e-02 2007.11.27 2007.11.27 2007.12.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 81093782 59599725 Cor18956_DIV_20070510.chr19_43633243-43633245_2 7.92e-02 2007.11.27 2007.11.27 2007.12.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 82230295 59599725 Cor18555_DIV_20070510.chr19_43633243-43633245_1 7.92e-02 2007.12.02 2007.12.02 2007.12.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 95728327 59599725 1104685411587 7.92e-02 2008.03.23 2008.12.03 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626312 59599725 INDEL_GP36_2008a_1182848_0 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626314 59599725 INDEL_GP36_2008a_1182848_1 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626316 59599725 INDEL_GP36_2008a_1182848_2 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626317 59599725 INDEL_GP36_2008a_1182848_3 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626318 59599725 INDEL_GP36_2008a_1182848_4 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 102626319 59599725 INDEL_GP36_2008a_1182848_5 7.92e-02 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 BL 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 256205626 59599725 SNP3810_19_43633242 7.92e-02 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 288525670 59599725 GMI_NA10851_INDEL_296296 7.92e-02 2010.12.22 2010.12.22 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 289387886 59599725 GMI_AK_INDEL_1065343 7.92e-02 2010.12.30 2011.12.30 2007.12.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 294962524 59599725 DIP_400228_chr19_43633243 7.92e-02 2011.01.22 2011.01.22 2007.12.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 294962525 59599725 DIP_400229_chr19_43633244 7.92e-02 2011.01.22 2011.01.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 327903745 59599725 JPTCHB_chr19_43633242_indel 7.92e-02 2011.03.13 2011.04.03 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 328032181 59599725 CEU_chr19_43633242_indel 7.92e-02 2011.03.13 2011.04.03 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 328276220 59599725 YRI_chr19_43633242_indel 7.92e-02 2011.03.13 2011.04.04 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941403delA;NG_008866.1:g.22064delA;NM_000540.2:c.1123-1001delA;NM_001042723.1:c.1123-1001delA 499576241 59599725 20110316_indels_chr19_38941402_38941402 7.92e-02 2012.03.20 2012.03.20 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38941414_38941415insAATAAATA;NG_008866.1:g.22075_22076insAATAAATA;NM_000540.2:c.1123-990_1123-989insAATAAATA;NM_001042723.1:c.1123-990_1123-989insAATAAATA 101630172 66499145 INDEL_GP36_2008a_1224441_0 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38941414_38941415insAATAAATA;NG_008866.1:g.22075_22076insAATAAATA;NM_000540.2:c.1123-990_1123-989insAATAAATA;NM_001042723.1:c.1123-990_1123-989insAATAAATA 101630174 66499145 INDEL_GP36_2008a_1224441_1 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38941415delA;NC_000019.9:g.38941415delAinsATAAATAA;NG_008866.1:g.22076delA;NG_008866.1:g.22076delAinsATAAATAA;NM_000540.2:c.1123-989delA;NM_000540.2:c.1123-989delAinsATAAATAA;NM_001042723.1:c.1123-989delA;NM_001042723.1:c.1123-989delAinsATAAATAA 95728328 66523553 1104685411588 2008.03.23 2008.12.03 2009.02.04 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38941415_38941416insATAAATAA;NG_008866.1:g.22076_22077insATAAATAA;NM_000540.2:c.1123-989_1123-988insATAAATAA;NM_001042723.1:c.1123-989_1123-988insATAAATAA 100772601 66908750 INDEL_GP36_2008a_2150508_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38941415_38941416insATAAATAA;NG_008866.1:g.22076_22077insATAAATAA;NM_000540.2:c.1123-989_1123-988insATAAATAA;NM_001042723.1:c.1123-989_1123-988insATAAATAA 100772604 66908750 INDEL_GP36_2008a_2150508_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38941416_38941417insTAAATAAA;NG_008866.1:g.22077_22078insTAAATAAA;NM_000540.2:c.1123-988_1123-987insTAAATAAA;NM_001042723.1:c.1123-988_1123-987insTAAATAAA 100573536 67252713 INDEL_GP36_2008a_1182849_0 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38941416_38941417insTAAATAAA;NG_008866.1:g.22077_22078insTAAATAAA;NM_000540.2:c.1123-988_1123-987insTAAATAAA;NM_001042723.1:c.1123-988_1123-987insTAAATAAA 100573539 67252713 INDEL_GP36_2008a_1182849_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 10936666 7255958 chr19.NT_011109.15_11209649 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 16806332 7255958 CSHL-HuAA-200402.chr19.NT_011109.15_11209649 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 21526000 7255958 WGSA-200403-chr19.chr19.NT_011109.15_11209649 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 40970415 7255958 hCV30930922 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 82990337 7255958 Cor18555_SNV_20070510.chr19_43633271 2007.12.04 2007.12.04 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 83301762 7255958 Cor18956_SNV_20070510.chr19_43633271 2007.12.04 2007.12.04 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 85408527 7255958 Cor19129_SNV_20070510.chr19_43633271 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 90969799 7255958 JWB-1168149 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 103437707 7255958 BGI_rs7255958 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 115119914 7255958 NA19240_2008_12_16_3257529_chr19_43633271 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 136267639 7255958 ENSSNP1527852 2009.05.15 2010.03.07 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 137670208 7255958 ENSSNP11444273 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 168182528 7255958 NA07022_36_chr19_43633271 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 255668092 7255958 SNP49564_19_43633271 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 283205845 7255958 GMI_AK_SNP_7526266 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38941431C>A;NG_008866.1:g.22092C>A;NM_000540.2:c.1123-973C>A;NM_001042723.1:c.1123-973C>A 292248448 7255958 SNP_1754806_chr19_43633271 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38941438_38941439insA;NC_000019.9:g.38941438_38941439insC;NG_008866.1:g.22099_22100insA;NG_008866.1:g.22099_22100insC;NM_000540.2:c.1123-966_1123-965insA;NM_000540.2:c.1123-966_1123-965insC;NM_001042723.1:c.1123-966_1123-965insA;NM_001042723.1:c.1123-966_1123-965insC 96266941 66523554 1103691141747 2008.03.26 2008.03.26 2009.02.04 2011.07.08 137 HGSV 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 81089392 58041310 Cor18956_DIV_20070510.chr19_43633279-43633280_1 2007.11.27 2007.11.27 2007.12.15 2012.05.16 137 HGSV 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 81093785 58041310 Cor18956_DIV_20070510.chr19_43633279-43633280_2 2007.11.27 2007.11.27 2007.12.15 2012.05.16 137 HGSV 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 81538746 58041310 Cor18956_DIV_20070510.chr19_43633279-43633280_3 2007.11.30 2007.11.30 2007.12.15 2012.05.16 137 HGSV 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 81597251 58041310 Cor19129_DIV_20070510.chr19_43633279-43633280_1 2007.11.30 2007.11.30 2007.12.15 2012.05.16 137 HGSV 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 82230288 58041310 Cor18555_DIV_20070510.chr19_43633279-43633280_1 2007.12.02 2007.12.02 2007.12.15 2012.05.16 137 BCMHGSC_JDW 6261 NC_000019.9:g.38941439_38941440insTAAA;NC_000019.9:g.38941439_38941440insTAAATAAA;NG_008866.1:g.22100_22101insTAAA;NG_008866.1:g.22100_22101insTAAATAAA;NM_000540.2:c.1123-965_1123-964insTAAA;NM_000540.2:c.1123-965_1123-964insTAAATAAA;NM_001042723.1:c.1123-965_1123-964insTAAA;NM_001042723.1:c.1123-965_1123-964insTAAATAAA 103848653 58041310 JWB-4183133 2008.06.07 2009.05.12 2007.12.15 2012.05.16 137 GMI 6261 NC_000019.9:g.38941542C>T;NG_008866.1:g.22203C>T;NM_000540.2:c.1123-862C>T;NM_001042723.1:c.1123-862C>T 283205846 145329389 GMI_AK_SNP_7526267 4.60e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941542C>T;NG_008866.1:g.22203C>T;NM_000540.2:c.1123-862C>T;NM_001042723.1:c.1123-862C>T 340454322 145329389 20100804_snps_12097863_chr19_38941542 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941579C>T;NG_008866.1:g.22240C>T;NM_000540.2:c.1123-825C>T;NM_001042723.1:c.1123-825C>T 465586603 184099910 20101123_snps_11753833_chr19_38941579 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 6628569 4802467 NT_011109.13_1096614 3.67e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 10937147 4802467 chr19.NT_011109.15_11209817 3.67e-01 2003.06.30 2008.03.31 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 16806561 4802467 CSHL-HuAA-200402.chr19.NT_011109.15_11209817 3.67e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 19407445 4802467 CSHL-HuDD-200402.chr19.NT_011109.15_11209817 3.67e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 21527759 4802467 WGSA-200403-chr19.chr19.NT_011109.15_11209817 3.67e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 76604221 4802467 AFFY_6_1M_SNP_A-8465435 3.67e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 82639694 4802467 Cor18555_SNV_20070510.chr19_43633439 3.67e-01 2007.12.03 2007.12.03 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 82945081 4802467 Cor18956_SNV_20070510.chr19_43633439 3.67e-01 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 83269527 4802467 Cor19240_SNV_20070510.chr19_43633439 3.67e-01 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 90969803 4802467 JWB-1168150 3.67e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 96266942 4802467 1103691141748 3.67e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 103437708 4802467 BGI_rs4802467 3.67e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 104905213 4802467 KHS1297536 3.67e-01 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 111365120 4802467 CEU.trio.12.15.2008_3616577_chr19_43633439 3.67e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 115119916 4802467 NA19240_2008_12_16_3257530_chr19_43633439 3.67e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 136267635 4802467 ENSSNP1527853 3.67e-01 2009.05.15 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 137670211 4802467 ENSSNP5666909 3.67e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 155887284 4802467 GMI_SNP_103973351 3.67e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 171754038 4802467 NA20431_36_chr19_43633439 3.67e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 203750810 4802467 BUSHMAN-chr19-43633438 3.67e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 208459205 4802467 BCM_CMT_1011-3110590 3.67e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 228135556 4802467 pilot_1_YRI_9945239_chr19_43633439 3.67e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 237674079 4802467 pilot_1_CEU_7278708_chr19_43633439 3.67e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 243880887 4802467 pilot_1_CHB+JPT_5765964_chr19_43633439 3.67e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 255668099 4802467 SNP49565_19_43633439 3.67e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 283205847 4802467 GMI_AK_SNP_7526268 3.67e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38941599C>T;NG_008866.1:g.22260C>T;NM_000540.2:c.1123-805C>T;NM_001042723.1:c.1123-805C>T 292248449 4802467 SNP_1754807_chr19_43633439 3.67e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38941614C>A;NG_008866.1:g.22275C>A;NM_000540.2:c.1123-790C>A;NM_001042723.1:c.1123-790C>A 208457059 79971794 BCM_CMT_1011-3109855 3.25e-02 2010.03.19 2010.03.19 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38941614C>A;NG_008866.1:g.22275C>A;NM_000540.2:c.1123-790C>A;NM_001042723.1:c.1123-790C>A 237674080 79971794 pilot_1_CEU_7278709_chr19_43633454 3.25e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 10936978 7256131 chr19.NT_011109.15_11209862 4.35e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 16806477 7256131 CSHL-HuAA-200402.chr19.NT_011109.15_11209862 4.35e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 19407400 7256131 CSHL-HuDD-200402.chr19.NT_011109.15_11209862 4.35e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 21527150 7256131 WGSA-200403-chr19.chr19.NT_011109.15_11209862 4.35e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 82789165 7256131 Cor18555_SNV_20070510.chr19_43633484 4.35e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 83100708 7256131 Cor18956_SNV_20070510.chr19_43633484 4.35e-01 2007.12.04 2007.12.04 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 83458086 7256131 Cor19240_SNV_20070510.chr19_43633484 4.35e-01 2007.12.05 2007.12.05 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 90969806 7256131 JWB-1168151 4.35e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38941644_38941645delACinsGT;NG_008866.1:g.22305_22306delACinsGT;NM_000540.2:c.1123-760_1123-759delACinsGT;NM_001042723.1:c.1123-760_1123-759delACinsGT 95217620 67798320 1103691141749 2008.03.21 2008.03.21 2009.02.06 2011.07.08 137 BGI 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 103437709 7256131 BGI_rs7256131 4.35e-01 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 111365128 7256131 CEU.trio.12.15.2008_3616578_chr19_43633484 4.35e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 136267633 7256131 ENSSNP1527854 4.35e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 137670214 7256131 ENSSNP11444275 4.35e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 211962541 7256131 YRI.trio.3.2010_1440209_chr19_43633484 4.35e-01 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 228135557 7256131 pilot_1_YRI_9945240_chr19_43633484 4.35e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 237674081 7256131 pilot_1_CEU_7278710_chr19_43633484 4.35e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 243880888 7256131 pilot_1_CHB+JPT_5765965_chr19_43633484 4.35e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 255668104 7256131 SNP49566_19_43633484 4.35e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 283205848 7256131 GMI_AK_SNP_7526269 4.35e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38941644A>G;NG_008866.1:g.22305A>G;NM_000540.2:c.1123-760A>G;NM_001042723.1:c.1123-760A>G 292248450 7256131 SNP_1754808_chr19_43633484 4.35e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 6628570 4802468 NT_011109.13_1096660 3.78e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 10937182 4802468 chr19.NT_011109.15_11209863 3.78e-01 2003.06.30 2003.11.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 16806583 4802468 CSHL-HuAA-200402.chr19.NT_011109.15_11209863 3.78e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 19407463 4802468 CSHL-HuDD-200402.chr19.NT_011109.15_11209863 3.78e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 21527881 4802468 WGSA-200403-chr19.chr19.NT_011109.15_11209863 3.78e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 83125401 4802468 Cor18555_SNV_20070510.chr19_43633485 3.78e-01 2007.12.04 2007.12.04 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 83427312 4802468 Cor18956_SNV_20070510.chr19_43633485 3.78e-01 2007.12.05 2007.12.05 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 83885142 4802468 Cor19240_SNV_20070510.chr19_43633485 3.78e-01 2007.12.06 2007.12.06 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 90969808 4802468 JWB-1168152 3.78e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 103437710 4802468 BGI_rs4802468 3.78e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 111365137 4802468 CEU.trio.12.15.2008_3616579_chr19_43633485 3.78e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 136267629 4802468 ENSSNP1527855 3.78e-01 2009.05.15 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 137670216 4802468 ENSSNP11444276 3.78e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 211962544 4802468 YRI.trio.3.2010_1440210_chr19_43633485 3.78e-01 2010.03.31 2010.03.31 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 228135558 4802468 pilot_1_YRI_9945241_chr19_43633485 3.78e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 237674082 4802468 pilot_1_CEU_7278711_chr19_43633485 3.78e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 243880889 4802468 pilot_1_CHB+JPT_5765966_chr19_43633485 3.78e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 255668108 4802468 SNP49567_19_43633485 3.78e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 283205849 4802468 GMI_AK_SNP_7526270 3.78e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38941645C>T;NG_008866.1:g.22306C>T;NM_000540.2:c.1123-759C>T;NM_001042723.1:c.1123-759C>T 292248451 4802468 SNP_1754809_chr19_43633485 3.78e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941784G>T;NG_008866.1:g.22445G>T;NM_000540.2:c.1123-620G>T;NM_001042723.1:c.1123-620G>T 340454323 147705296 20100804_snps_12097864_chr19_38941784 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38941790G>T;NG_008866.1:g.22451G>T;NM_000540.2:c.1123-614G>T;NM_001042723.1:c.1123-614G>T 340454324 142420600 20100804_snps_12097865_chr19_38941790 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38941839G>A;NG_008866.1:g.22500G>A;NM_000540.2:c.1123-565G>A;NM_001042723.1:c.1123-565G>A 465586604 188099912 20101123_snps_11753834_chr19_38941839 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38941847G>A;NG_008866.1:g.22508G>A;NM_000540.2:c.1123-557G>A;NM_001042723.1:c.1123-557G>A 228135559 77231591 pilot_1_YRI_9945242_chr19_43633687 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38941877C>T;NG_008866.1:g.22538C>T;NM_000540.2:c.1123-527C>T;NM_001042723.1:c.1123-527C>T 117702470 73930579 NA18507_000043829_NCBI36.1_chr19_43633717 4.60e-03 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38941877C>T;NG_008866.1:g.22538C>T;NM_000540.2:c.1123-527C>T;NM_001042723.1:c.1123-527C>T 228135560 73930579 pilot_1_YRI_9945243_chr19_43633717 4.60e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942046G>A;NG_008866.1:g.22707G>A;NM_000540.2:c.1123-358G>A;NM_001042723.1:c.1123-358G>A 340454325 144445601 20100804_snps_12097866_chr19_38942046 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38942086C>T;NG_008866.1:g.22747C>T;NM_000540.2:c.1123-318C>T;NM_001042723.1:c.1123-318C>T 340454326 151189125 20100804_snps_12097867_chr19_38942086 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38942209A>C;NG_008866.1:g.22870A>C;NM_000540.2:c.1123-195A>C;NM_001042723.1:c.1123-195A>C 40997802 34255561 hCV26218811 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 4931864 3745844 IMS-JST097342 2.17e-01 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 20064388 3745844 CSHL-HuFF-200402.chr19.NT_011109.15_11210466 2.17e-01 2004.02.22 2006.10.26 2002.08.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 44189055 3745844 hCV11507962 2.17e-01 2005.07.18 2005.07.18 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 66809837 3745844 HumanHap300v1.1_rs3745844 2.17e-01 2006.11.09 2006.11.09 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 67298999 3745844 HumanHap550v1.1_rs3745844 2.17e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 67703620 3745844 HumanHap650Yv1.0_rs3745844 2.17e-01 2006.11.14 2006.11.14 2002.08.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 69228155 3745844 PGP04176684 2.17e-01 2007.01.30 2008.03.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 70777631 3745844 HumanHap550v3.0__rs3745844 2.17e-01 2007.04.20 2008.03.30 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 71353791 3745844 HumanHap650Yv3.0_rs3745844 2.17e-01 2007.04.23 2007.04.23 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 75845244 3745844 ILMN_Human_1M_rs3745844 2.17e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 76599313 3745844 AFFY_6_1M_SNP_A-8460493 2.17e-01 2007.08.30 2007.08.30 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 79164363 3745844 HumanHap300v2.0_rs3745844 2.17e-01 2007.11.18 2007.11.18 2002.08.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 84166045 3745844 KHS648860 2.17e-01 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 103437711 3745844 BGI_rs3745844 2.17e-01 2008.06.06 2009.06.17 2002.08.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 117702471 3745844 NA18507_000043830_NCBI36.1_chr19_43634088 2.17e-01 2009.01.20 2009.01.20 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 122205955 3745844 HumanCNV370v1_C_rs3745844 2.17e-01 2009.04.15 2009.04.15 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 154264830 3745844 Human610_Quadv1_B_rs3745844-128_B_R_1501748654 2.17e-01 2009.06.20 2009.06.20 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 159441666 3745844 Human660W-Quad_v1_A_rs3745844-128_B_R_1501748654 2.17e-01 2009.07.07 2009.07.07 2002.08.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 161878494 3745844 ENSSNP1527857 2.17e-01 2009.09.26 2010.03.07 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 171623693 3745844 HumanCNV370-Quadv3_C_rs3745844-128_B_R_1501748654 2.17e-01 2009.10.01 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 171754042 3745844 NA20431_36_chr19_43634088 2.17e-01 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 173620759 3745844 Human1M-Duov3_B_rs3745844-128_B_R_1501748654 2.17e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 203750811 3745844 BUSHMAN-chr19-43634087 2.17e-01 2010.03.09 2010.03.09 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 208404973 3745844 BCM_CMT_1011-3092562 2.17e-01 2010.03.19 2010.03.19 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 228135561 3745844 pilot_1_YRI_9945244_chr19_43634088 2.17e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 237674083 3745844 pilot_1_CEU_7278712_chr19_43634088 2.17e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 243880890 3745844 pilot_1_CHB+JPT_5765967_chr19_43634088 2.17e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38942248G>A;NG_008866.1:g.22909G>A;NM_000540.2:c.1123-156G>A;NM_001042723.1:c.1123-156G>A 283205850 3745844 GMI_AK_SNP_7526271 2.17e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38942279T>C;NG_008866.1:g.22940T>C;NM_000540.2:c.1123-125T>C;NM_001042723.1:c.1123-125T>C 81398816 59873209 Cor18507_SNV_20070510.chr19_43634119 1.28e-02 2007.11.29 2007.11.29 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38942279T>C;NG_008866.1:g.22940T>C;NM_000540.2:c.1123-125T>C;NM_001042723.1:c.1123-125T>C 117702474 59873209 NA18507_000043831_NCBI36.1_chr19_43634119 1.28e-02 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942279T>C;NG_008866.1:g.22940T>C;NM_000540.2:c.1123-125T>C;NM_001042723.1:c.1123-125T>C 228135562 59873209 pilot_1_YRI_9945245_chr19_43634119 1.28e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38942393C>T;NG_008866.1:g.23054C>T;NM_000540.2:c.1123-11C>T;NM_001042723.1:c.1123-11C>T 4931865 3745845 IMS-JST097343 4.60e-03 germline untested 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942393C>T;NG_008866.1:g.23054C>T;NM_000540.2:c.1123-11C>T;NM_001042723.1:c.1123-11C>T 340454327 3745845 20100804_snps_12097868_chr19_38942393 4.60e-03 unknown untested 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1123-11C>T NC_000019.9:g.38942393C>T;NG_008866.1:g.23054C>T;NM_000540.2:c.1123-11C>T;NM_001042723.1:c.1123-11C>T 475871454 3745845 RYR1_00331 4.60e-03 germline untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942393C>T;NG_008866.1:g.23054C>T;NM_000540.2:c.1123-11C>T;NM_001042723.1:c.1123-11C>T 491157916 3745845 20110521_exome_665714_chr19_38942393 4.60e-03 unknown untested 2012.02.22 2012.02.22 2002.08.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38942400C>T;NG_008866.1:g.23061C>T;NM_000540.2:c.1123-4C>T;NM_001042723.1:c.1123-4C>T 292248452 148712861 SNP_1754810_chr19_43634240 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38942421G>A;NG_008866.1:g.23082G>A;NM_000540.2:c.1140G>A;NM_001042723.1:c.1140G>A;NP_000531.2:p.Glu380=;NP_001036188.1:p.Glu380= 48401732 35189056 hCV25630477 2005.11.30 2005.11.30 2006.03.14 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38942433C>T;NG_008866.1:g.23094C>T;NM_000540.2:c.1152C>T;NM_001042723.1:c.1152C>T;NP_000531.2:p.Asp384=;NP_001036188.1:p.Asp384= 342496381 149770144 ESP2500-chr19-38942433 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38942436C>T;NG_008866.1:g.23097C>T;NM_000540.2:c.1155C>T;NM_001042723.1:c.1155C>T;NP_000531.2:p.Asp385=;NP_001036188.1:p.Asp385= 342496382 144658230 ESP2500-chr19-38942436 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942436C>T;NG_008866.1:g.23097C>T;NM_000540.2:c.1155C>T;NM_001042723.1:c.1155C>T;NP_000531.2:p.Asp385=;NP_001036188.1:p.Asp385= 489164353 144658230 20110521_exome_255571_chr19_38942436 9.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38942446C>A;NG_008866.1:g.23107C>A;NM_000540.2:c.1165C>A;NM_001042723.1:c.1165C>A;NP_000531.2:p.Leu389Met;NP_001036188.1:p.Leu389Met 342496383 148587119 ESP2500-chr19-38942446 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38942452C>T;NG_008866.1:g.23113C>T;NM_000540.2:c.1171C>T;NM_001042723.1:c.1171C>T;NP_000531.2:p.Arg391Cys;NP_001036188.1:p.Arg391Cys 465586605 180914178 20101123_snps_11753835_chr19_38942452 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942452C>T;NG_008866.1:g.23113C>T;NM_000540.2:c.1171C>T;NM_001042723.1:c.1171C>T;NP_000531.2:p.Arg391Cys;NP_001036188.1:p.Arg391Cys 491157917 180914178 20110521_exome_665715_chr19_38942452 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1201C>G NC_000019.9:g.38942482C>G;NC_000019.9:g.38942482C>T;NG_008866.1:g.23143C>G;NG_008866.1:g.23143C>T;NM_000540.2:c.1201C>G;NM_000540.2:c.1201C>T;NM_001042723.1:c.1201C>G;NM_001042723.1:c.1201C>T;NP_000531.2:p.Arg401Cys;NP_000531.2:p.Arg401Gly;NP_001036188.1:p.Arg401Cys;NP_001036188.1:p.Arg401Gly 475871455 193922764 RYR1_00088 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1201C>T NC_000019.9:g.38942482C>G;NC_000019.9:g.38942482C>T;NG_008866.1:g.23143C>G;NG_008866.1:g.23143C>T;NM_000540.2:c.1201C>G;NM_000540.2:c.1201C>T;NM_001042723.1:c.1201C>G;NM_001042723.1:c.1201C>T;NP_000531.2:p.Arg401Cys;NP_000531.2:p.Arg401Gly;NP_001036188.1:p.Arg401Cys;NP_001036188.1:p.Arg401Gly 475871456 193922764 RYR1_00112 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1202G>A NC_000019.9:g.38942483G>A;NG_008866.1:g.23144G>A;NM_000540.2:c.1202G>A;NM_001042723.1:c.1202G>A;NP_000531.2:p.Arg401His;NP_001036188.1:p.Arg401His 475871457 193922766 RYR1_00190 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.1205T>C NC_000019.9:g.38942486T>C;NG_008866.1:g.23147T>C;NM_000540.2:c.1205T>C;NM_001042723.1:c.1205T>C;NP_000531.2:p.Met402Thr;NP_001036188.1:p.Met402Thr 252444685 118192117 CCORE_6 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1205T>C NC_000019.9:g.38942486T>C;NG_008866.1:g.23147T>C;NM_000540.2:c.1205T>C;NM_001042723.1:c.1205T>C;NP_000531.2:p.Met402Thr;NP_001036188.1:p.Met402Thr 475871458 118192117 RYR1_00284 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.1209C>G NC_000019.9:g.38942490C>G;NG_008866.1:g.23151C>G;NM_000540.2:c.1209C>G;NM_001042723.1:c.1209C>G;NP_000531.2:p.Ile403Met;NP_001036188.1:p.Ile403Met 252444684 118192116 CCORE_5 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ILE403MET NC_000019.9:g.38942490C>G;NG_008866.1:g.23151C>G;NM_000540.2:c.1209C>G;NM_001042723.1:c.1209C>G;NP_000531.2:p.Ile403Met;NP_001036188.1:p.Ile403Met 275518431 118192116 5300 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.1209C>G NC_000019.9:g.38942490C>G;NG_008866.1:g.23151C>G;NM_000540.2:c.1209C>G;NM_001042723.1:c.1209C>G;NP_000531.2:p.Ile403Met;NP_001036188.1:p.Ile403Met 475871459 118192116 RYR1_00169 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 YUSUKE 6261 NC_000019.9:g.38942499C>T;NG_008866.1:g.23160C>T;NM_000540.2:c.1218C>T;NM_001042723.1:c.1218C>T;NP_000531.2:p.Thr406=;NP_001036188.1:p.Thr406= 4931866 3745846 IMS-JST097344 5.00e-04 unknown untested 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942499C>T;NG_008866.1:g.23160C>T;NM_000540.2:c.1218C>T;NM_001042723.1:c.1218C>T;NP_000531.2:p.Thr406=;NP_001036188.1:p.Thr406= 160635332 3745846 HumanOmni1-Quad_v1-0_B_rs3745846-128_T_R_1562496709 5.00e-04 unknown untested 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1218C>T NC_000019.9:g.38942499C>T;NG_008866.1:g.23160C>T;NM_000540.2:c.1218C>T;NM_001042723.1:c.1218C>T;NP_000531.2:p.Thr406=;NP_001036188.1:p.Thr406= 475871460 3745846 RYR1_00005 5.00e-04 germline untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38942499C>T;NG_008866.1:g.23160C>T;NM_000540.2:c.1218C>T;NM_001042723.1:c.1218C>T;NP_000531.2:p.Thr406=;NP_001036188.1:p.Thr406= 481756143 3745846 HumanOmni1-Quad_v1-0_C_rs3745846-131_T_R_1863358553 5.00e-04 unknown untested 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942499C>T;NG_008866.1:g.23160C>T;NM_000540.2:c.1218C>T;NM_001042723.1:c.1218C>T;NP_000531.2:p.Thr406=;NP_001036188.1:p.Thr406= 489164355 3745846 20110521_exome_255572_chr19_38942499 5.00e-04 germline untested 2012.02.14 2012.02.14 2002.08.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38942501A>G;NG_008866.1:g.23162A>G;NM_000540.2:c.1220A>G;NM_001042723.1:c.1220A>G;NP_000531.2:p.Asn407Ser;NP_001036188.1:p.Asn407Ser 342496384 142961693 ESP2500-chr19-38942501 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38942525A>G;NG_008866.1:g.23186A>G;NM_000540.2:c.1244A>G;NM_001042723.1:c.1244A>G;NP_000531.2:p.Lys415Arg;NP_001036188.1:p.Lys415Arg 489164358 202104274 20110521_exome_255573_chr19_38942525 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942625A>G;NG_008866.1:g.23286A>G;NM_000540.2:c.1244+100A>G;NM_001042723.1:c.1244+100A>G 340454328 150380244 20100804_snps_12097869_chr19_38942625 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 6628571 4802469 NT_011109.13_1097729 7.14e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 12462473 4802469 chr19.NT_011109.15_11210932 7.14e-02 2003.07.04 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 14710956 4802469 chr19.NT_011109.15_11210932 7.14e-02 2003.11.10 2003.11.22 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 16792146 4802469 CSHL-HuAA-200402.chr19.NT_011109.15_11210932 7.14e-02 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 20064609 4802469 CSHL-HuFF-200402.chr19.NT_011109.15_11210932 7.14e-02 2004.02.22 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 21508373 4802469 WGSA-200403-chr19.chr19.NT_011109.15_11210932 7.14e-02 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 81382793 4802469 Cor18507_SNV_20070510.chr19_43634554 7.14e-02 2007.11.29 2007.11.29 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 82813905 4802469 Cor18956_SNV_20070510.chr19_43634554 7.14e-02 2007.12.03 2007.12.03 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 90969810 4802469 JWB-1168153 7.14e-02 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 96266943 4802469 1103691141750 7.14e-02 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 117702475 4802469 NA18507_000043832_NCBI36.1_chr19_43634554 7.14e-02 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 136267626 4802469 ENSSNP1527858 7.14e-02 2009.05.15 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 137670220 4802469 ENSSNP11444277 7.14e-02 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 155887290 4802469 GMI_SNP_154059731 7.14e-02 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 168182541 4802469 NA07022_36_chr19_43634554 7.14e-02 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 169705963 4802469 NA19240_36_chr19_43634554 7.14e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 171754049 4802469 NA20431_36_chr19_43634554 7.14e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 203750812 4802469 BUSHMAN-chr19-43634553 7.14e-02 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 208501712 4802469 BCM_CMT_1011-3124908 7.14e-02 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 237674084 4802469 pilot_1_CEU_7278713_chr19_43634554 7.14e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 243880891 4802469 pilot_1_CHB+JPT_5765968_chr19_43634554 7.14e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 255668115 4802469 SNP49568_19_43634554 7.14e-02 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 283205851 4802469 GMI_AK_SNP_7526272 7.14e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38942714G>A;NG_008866.1:g.23375G>A;NM_000540.2:c.1244+189G>A;NM_001042723.1:c.1244+189G>A 292248453 4802469 SNP_1754811_chr19_43634554 7.14e-02 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942729G>A;NG_008866.1:g.23390G>A;NM_000540.2:c.1244+204G>A;NM_001042723.1:c.1244+204G>A 237674085 117954351 pilot_1_CEU_7278714_chr19_43634569 5.45e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38942729G>A;NG_008866.1:g.23390G>A;NM_000540.2:c.1244+204G>A;NM_001042723.1:c.1244+204G>A 243880892 117954351 pilot_1_CHB+JPT_5765969_chr19_43634569 5.45e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 95728329 66571762 1104685411589 2008.03.23 2008.12.03 2009.02.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insA;NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insA;NM_001042723.1:c.1244+242_1244+243insAA 99447933 67447365 INDEL_GP36_2007a_904082_0 2008.05.05 2008.05.05 2009.02.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 99683430 66571762 INDEL_GP36_2007a_904340_0 2008.05.05 2008.05.05 2009.02.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insA;NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insA;NM_001042723.1:c.1244+242_1244+243insAA 100811055 67447365 INDEL_GP36_2008a_2192519_0 2008.05.17 2008.05.17 2009.02.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 101485096 66571762 INDEL_GP36_2008a_904340_1 2008.05.17 2008.05.17 2009.02.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 101766678 66571762 INDEL_GP36_2008a_992807_0 2008.05.18 2008.05.18 2009.02.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 102006251 66571762 INDEL_GP36_2008a_1524625_0 2008.05.18 2008.05.18 2009.02.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 102075476 66571762 INDEL_GP36_2008a_1608062_0 2008.05.18 2008.05.18 2009.02.04 2012.11.28 137 PJP 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 294962526 66571762 DIP_400230_chr19_43634607 2011.01.22 2011.01.22 2009.02.04 2012.11.28 137 PJP 6261 NC_000019.9:g.38942767_38942768insAA;NG_008866.1:g.23428_23429insAA;NM_000540.2:c.1244+242_1244+243insAA;NM_001042723.1:c.1244+242_1244+243insAA 294962527 66571762 DIP_400231_chr19_43634630 2011.01.22 2011.01.22 2009.02.04 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38942793T>A;NG_008866.1:g.23454T>A;NM_000540.2:c.1244+268T>A;NM_001042723.1:c.1244+268T>A 137670223 79104220 ENSSNP11444278 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 GMI 6261 NC_000019.9:g.38942814T>C;NG_008866.1:g.23475T>C;NM_000540.2:c.1244+289T>C;NM_001042723.1:c.1244+289T>C 155887296 79680495 GMI_SNP_153839450 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38942814T>C;NG_008866.1:g.23475T>C;NM_000540.2:c.1244+289T>C;NM_001042723.1:c.1244+289T>C 283205852 79680495 GMI_AK_SNP_7526273 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942814T>C;NG_008866.1:g.23475T>C;NM_000540.2:c.1244+289T>C;NM_001042723.1:c.1244+289T>C 340454329 79680495 20100804_snps_12097870_chr19_38942814 1.01e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38942873T>C;NG_008866.1:g.23534T>C;NM_000540.2:c.1244+348T>C;NM_001042723.1:c.1244+348T>C 340454330 149033602 20100804_snps_12097871_chr19_38942873 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38942875G>C;NG_008866.1:g.23536G>C;NM_000540.2:c.1244+350G>C;NM_001042723.1:c.1244+350G>C 340454331 144603876 20100804_snps_12097872_chr19_38942875 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38942912A>G;NG_008866.1:g.23573A>G;NM_000540.2:c.1244+387A>G;NM_001042723.1:c.1244+387A>G 465586606 186157041 20101123_snps_11753836_chr19_38942912 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38942913_38942914insA;NG_008866.1:g.23574_23575insA;NM_000540.2:c.1244+388_1244+389insA;NM_001042723.1:c.1244+388_1244+389insA 499576245 199624190 20110316_indels_chr19_38942913_38942914 8.20e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38943025G>A;NG_008866.1:g.23686G>A;NM_000540.2:c.1245-434G>A;NM_001042723.1:c.1245-434G>A 155887303 75264440 GMI_SNP_120617145 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38943025G>A;NG_008866.1:g.23686G>A;NM_000540.2:c.1245-434G>A;NM_001042723.1:c.1245-434G>A 283205853 75264440 GMI_AK_SNP_7526274 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943025G>A;NG_008866.1:g.23686G>A;NM_000540.2:c.1245-434G>A;NM_001042723.1:c.1245-434G>A 340454332 75264440 20100804_snps_12097873_chr19_38943025 1.01e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943073_38943075delAAT;NG_008866.1:g.23734_23736delAAT;NM_000540.2:c.1245-386_1245-384delAAT;NM_001042723.1:c.1245-386_1245-384delAAT 328276221 139628409 YRI_chr19_43634912_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38943154A>G;NG_008866.1:g.23815A>G;NM_000540.2:c.1245-305A>G;NM_001042723.1:c.1245-305A>G 228135563 116811995 pilot_1_YRI_9945246_chr19_43634994 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38943154A>G;NG_008866.1:g.23815A>G;NM_000540.2:c.1245-305A>G;NM_001042723.1:c.1245-305A>G 482343409 116811995 HumanOmni2.5-4v1_D_kgp21482842-0_T_F_1844317963 3.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38943154A>G;NG_008866.1:g.23815A>G;NM_000540.2:c.1245-305A>G;NM_001042723.1:c.1245-305A>G 483825882 116811995 HumanOmni2.5-4v1_B_SNP19-43634994-0_T_F_1640512930 3.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.38943181C>T;NG_008866.1:g.23842C>T;NM_000540.2:c.1245-278C>T;NM_001042723.1:c.1245-278C>T 78594393 56219260 Cor18507_SNV_20070510.chr19_43635021 1.28e-02 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38943181C>T;NG_008866.1:g.23842C>T;NM_000540.2:c.1245-278C>T;NM_001042723.1:c.1245-278C>T 117702478 56219260 NA18507_000043833_NCBI36.1_chr19_43635021 1.28e-02 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943181C>T;NG_008866.1:g.23842C>T;NM_000540.2:c.1245-278C>T;NM_001042723.1:c.1245-278C>T 228135564 56219260 pilot_1_YRI_9945247_chr19_43635021 1.28e-02 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943241C>T;NG_008866.1:g.23902C>T;NM_000540.2:c.1245-218C>T;NM_001042723.1:c.1245-218C>T 228135565 79884297 pilot_1_YRI_9945248_chr19_43635081 3.66e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943241C>T;NG_008866.1:g.23902C>T;NM_000540.2:c.1245-218C>T;NM_001042723.1:c.1245-218C>T 237674086 79884297 pilot_1_CEU_7278715_chr19_43635081 3.66e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38943241C>T;NG_008866.1:g.23902C>T;NM_000540.2:c.1245-218C>T;NM_001042723.1:c.1245-218C>T 479403275 79884297 HumanOmni2.5-4v1_D_kgp10673245-0_B_F_1816401399 3.66e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38943241C>T;NG_008866.1:g.23902C>T;NM_000540.2:c.1245-218C>T;NM_001042723.1:c.1245-218C>T 483825884 79884297 HumanOmni2.5-4v1_B_SNP19-43635081-0_B_F_1622821632 3.66e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943247C>G;NG_008866.1:g.23908C>G;NM_000540.2:c.1245-212C>G;NM_001042723.1:c.1245-212C>G 340454333 141620205 20100804_snps_12097874_chr19_38943247 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.38943273C>A;NG_008866.1:g.23934C>A;NM_000540.2:c.1245-186C>A;NM_001042723.1:c.1245-186C>A 155887310 80062847 GMI_SNP_40814046 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38943273C>A;NG_008866.1:g.23934C>A;NM_000540.2:c.1245-186C>A;NM_001042723.1:c.1245-186C>A 283205854 80062847 GMI_AK_SNP_7526275 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943273C>A;NG_008866.1:g.23934C>A;NM_000540.2:c.1245-186C>A;NM_001042723.1:c.1245-186C>A 340454334 80062847 20100804_snps_12097875_chr19_38943273 1.01e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943310C>T;NG_008866.1:g.23971C>T;NM_000540.2:c.1245-149C>T;NM_001042723.1:c.1245-149C>T 465586607 189337686 20101123_snps_11753837_chr19_38943310 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38943406G>T;NG_008866.1:g.24067G>T;NM_000540.2:c.1245-53G>T;NM_001042723.1:c.1245-53G>T 228135566 114001930 pilot_1_YRI_9945249_chr19_43635246 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38943411G>T;NG_008866.1:g.24072G>T;NM_000540.2:c.1245-48G>T;NM_001042723.1:c.1245-48G>T 203750813 111240046 BUSHMAN-chr19-43635250 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 ABI 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 44158869 35839245 hCV7821777 7.30e-03 2005.07.18 2005.07.18 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 96305657 35839245 1103691141753 7.30e-03 2008.03.26 2008.03.26 2006.03.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 136267624 35839245 ENSSNP1527860 7.30e-03 2009.05.15 2009.10.15 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 292248454 35839245 SNP_1754812_chr19_43635270 7.30e-03 2011.01.21 2011.01.21 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 340454337 35839245 20100804_snps_12097878_chr19_38943430 7.30e-03 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943430C>T;NG_008866.1:g.24091C>T;NM_000540.2:c.1245-29C>T;NM_001042723.1:c.1245-29C>T 491157918 35839245 20110521_exome_665716_chr19_38943430 7.30e-03 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.1280C>T NC_000019.9:g.38943494C>T;NG_008866.1:g.24155C>T;NM_000540.2:c.1280C>T;NM_001042723.1:c.1280C>T;NP_000531.2:p.Ser427Leu;NP_001036188.1:p.Ser427Leu 252444686 118192118 CCORE_7 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1280C>T NC_000019.9:g.38943494C>T;NG_008866.1:g.24155C>T;NM_000540.2:c.1280C>T;NM_001042723.1:c.1280C>T;NP_000531.2:p.Ser427Leu;NP_001036188.1:p.Ser427Leu 475871461 118192118 RYR1_00252 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1280_1281dupCG NC_000019.9:g.38943494_38943495dupCG;NG_008866.1:g.24155_24156dupCG;NM_000540.2:c.1280_1281dupCG;NM_001042723.1:c.1280_1281dupCG;NP_000531.2:p.Ser427delinsSerArgfs;NP_001036188.1:p.Ser427delinsSerArgfs 475871685 193922851 RYR1_00325 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38943500C>T;NG_008866.1:g.24161C>T;NM_000540.2:c.1286C>T;NM_001042723.1:c.1286C>T;NP_000531.2:p.Pro429Leu;NP_001036188.1:p.Pro429Leu 489164360 201054455 20110521_exome_255574_chr19_38943500 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38943598G>A;NG_008866.1:g.24259G>A;NM_000540.2:c.1384G>A;NM_001042723.1:c.1384G>A;NP_000531.2:p.Glu462Lys;NP_001036188.1:p.Glu462Lys 491766127 199592055 SNV-chr19-43635438 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943633C>A;NG_008866.1:g.24294C>A;NM_000540.2:c.1419C>A;NM_001042723.1:c.1419C>A;NP_000531.2:p.Arg473=;NP_001036188.1:p.Arg473= 489164362 200298392 20110521_exome_255575_chr19_38943633 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1422G>T NC_000019.9:g.38943636G>T;NG_008866.1:g.24297G>T;NM_000540.2:c.1422G>T;NM_001042723.1:c.1422G>T;NP_000531.2:p.Gln474His;NP_001036188.1:p.Gln474His 475871462 193922767 RYR1_00130 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38943668G>A;NG_008866.1:g.24329G>A;NM_000540.2:c.1440+14G>A;NM_001042723.1:c.1440+14G>A 489164364 199508524 20110521_exome_255576_chr19_38943668 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943701G>A;NG_008866.1:g.24362G>A;NM_000540.2:c.1440+47G>A;NM_001042723.1:c.1440+47G>A 489164366 202063918 20110521_exome_255577_chr19_38943701 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 19400756 12460768 CSHL-HuDD-200402.chr19.NT_011109.15_11211946 3.64e-01 germline untested 2004.02.21 2004.03.04 2004.02.28 2012.09.29 137 SSAHASNP 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 21537330 12460768 WGSA-200403-chr19.chr19.NT_011109.15_11211946 3.64e-01 germline untested 2004.03.20 2004.03.20 2004.02.28 2012.09.29 137 ABI 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 44174116 12460768 hCV26218812 3.64e-01 germline untested 2005.07.18 2005.07.18 2004.02.28 2012.09.29 137 HGSV 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 77375938 12460768 Cor12156_SNV_20070510.chr19_43635568 3.64e-01 unknown untested 2007.10.10 2007.10.12 2004.02.28 2012.09.29 137 HGSV 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 83122248 12460768 Cor19240_SNV_20070510.chr19_43635568 3.64e-01 unknown untested 2007.12.04 2007.12.04 2004.02.28 2012.09.29 137 HGSV 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 85068789 12460768 Cor19129_SNV_20070510.chr19_43635568 3.64e-01 germline untested 2007.12.08 2007.12.08 2004.02.28 2012.09.29 137 HGSV 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 85242031 12460768 Cor18517_SNV_20070510.chr19_43635568 3.64e-01 unknown untested 2007.12.08 2007.12.08 2004.02.28 2012.09.29 137 BCMHGSC_JDW 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 90969812 12460768 JWB-1168154 3.64e-01 germline untested 2008.03.01 2008.03.01 2004.02.28 2012.09.29 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 96266944 12460768 1103691141757 3.64e-01 germline untested 2008.03.26 2008.03.26 2004.02.28 2012.09.29 137 BGI 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 103437712 12460768 BGI_rs12460768 3.64e-01 germline untested 2008.06.06 2009.06.17 2004.02.28 2012.09.29 137 ENSEMBL 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 136267620 12460768 ENSSNP1527861 3.64e-01 unknown untested 2009.05.15 2010.03.07 2004.02.28 2012.09.29 137 ENSEMBL 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 137670226 12460768 ENSSNP6136026 3.64e-01 unknown untested 2009.05.16 2009.05.16 2004.02.28 2012.09.29 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 168182553 12460768 NA07022_36_chr19_43635568 3.64e-01 germline untested 2009.09.30 2009.09.30 2004.02.28 2012.09.29 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 169705986 12460768 NA19240_36_chr19_43635568 3.64e-01 unknown untested 2009.10.01 2009.10.01 2004.02.28 2012.09.29 137 BUSHMAN 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 203750814 12460768 BUSHMAN-chr19-43635567 3.64e-01 unknown untested 2010.03.09 2010.03.09 2004.02.28 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 228135567 12460768 pilot_1_YRI_9945250_chr19_43635568 3.64e-01 germline untested 2010.04.22 2010.04.22 2004.02.28 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 237674087 12460768 pilot_1_CEU_7278716_chr19_43635568 3.64e-01 unknown untested 2010.05.01 2010.05.01 2004.02.28 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 243880894 12460768 pilot_1_CHB+JPT_5765971_chr19_43635568 3.64e-01 unknown untested 2010.05.01 2010.05.01 2004.02.28 2012.09.29 137 BL 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 255668118 12460768 SNP49569_19_43635568 3.64e-01 unknown untested 2010.08.20 2010.08.20 2004.02.28 2012.09.29 137 PJP 6261 NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 292248455 12460768 SNP_1754813_chr19_43635568 3.64e-01 germline untested 2011.01.21 2011.01.21 2004.02.28 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.1440+74G>A NC_000019.9:g.38943728G>A;NG_008866.1:g.24389G>A;NM_000540.2:c.1440+74G>A;NM_001042723.1:c.1440+74G>A 475871463 12460768 RYR1_00337 3.64e-01 germline untested 2011.11.25 2011.11.25 2004.02.28 2012.09.29 137 ABI 6261 NC_000019.9:g.38943749delG;NG_008866.1:g.24410delG;NM_000540.2:c.1440+95delG;NM_001042723.1:c.1440+95delG 41002938 35070730 hCV32823828 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HGSV 6261 NC_000019.9:g.38943799C>T;NG_008866.1:g.24460C>T;NM_000540.2:c.1440+145C>T;NM_001042723.1:c.1440+145C>T 84939851 60491875 Cor19129_SNV_20070510.chr19_43635639 3.70e-03 2007.12.08 2007.12.08 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943799C>T;NG_008866.1:g.24460C>T;NM_000540.2:c.1440+145C>T;NM_001042723.1:c.1440+145C>T 465586608 60491875 20101123_snps_11753838_chr19_38943799 3.70e-03 2011.07.20 2011.07.20 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.38943853G>A;NG_008866.1:g.24514G>A;NM_000540.2:c.1440+199G>A;NM_001042723.1:c.1440+199G>A 155887319 76785884 GMI_SNP_135505511 1.69e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38943853G>A;NG_008866.1:g.24514G>A;NM_000540.2:c.1440+199G>A;NM_001042723.1:c.1440+199G>A 203750815 76785884 BUSHMAN-chr19-43635692 1.69e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943853G>A;NG_008866.1:g.24514G>A;NM_000540.2:c.1440+199G>A;NM_001042723.1:c.1440+199G>A 211962546 76785884 YRI.trio.3.2010_1440211_chr19_43635693 1.69e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38943853G>A;NG_008866.1:g.24514G>A;NM_000540.2:c.1440+199G>A;NM_001042723.1:c.1440+199G>A 283205855 76785884 GMI_AK_SNP_7526276 1.69e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943853G>A;NG_008866.1:g.24514G>A;NM_000540.2:c.1440+199G>A;NM_001042723.1:c.1440+199G>A 465586609 76785884 20101123_snps_11753839_chr19_38943853 1.69e-02 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943950G>A;NG_008866.1:g.24611G>A;NM_000540.2:c.1440+296G>A;NM_001042723.1:c.1440+296G>A 228135568 115697801 pilot_1_YRI_9945251_chr19_43635790 1.97e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 17612574 11083461 CSHL-HuCC-200402.chr19.NT_011109.15_11212210 6.91e-02 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 19395323 11083461 CSHL-HuDD-200402.chr19.NT_011109.15_11212210 6.91e-02 2004.02.21 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 21513452 11083461 WGSA-200403-chr19.chr19.NT_011109.15_11212210 6.91e-02 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 77182834 11083461 Cor12156_SNV_20070510.chr19_43635832 6.91e-02 2007.10.09 2007.10.11 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 84454264 11083461 Cor18517_SNV_20070510.chr19_43635832 6.91e-02 2007.12.07 2007.12.07 2004.02.27 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 90969814 11083461 JWB-1168155 6.91e-02 2008.03.01 2008.03.01 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 96266945 11083461 1103691141758 6.91e-02 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 BGI 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 106055014 11083461 BGI_rs11083461 6.91e-02 2008.09.13 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 111365153 11083461 CEU.trio.12.15.2008_3616581_chr19_43635832 6.91e-02 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 117702480 11083461 NA18507_000043834_NCBI36.1_chr19_43635832 6.91e-02 2009.01.20 2009.01.20 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 136267618 11083461 ENSSNP1527862 6.91e-02 2009.05.15 2009.10.15 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 155887325 11083461 GMI_SNP_40711289 6.91e-02 2009.06.24 2009.06.24 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 168182564 11083461 NA07022_36_chr19_43635832 6.91e-02 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 203750816 11083461 BUSHMAN-chr19-43635831 6.91e-02 2010.03.09 2010.03.09 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 208477794 11083461 BCM_CMT_1011-3116702 6.91e-02 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 228135569 11083461 pilot_1_YRI_9945252_chr19_43635832 6.91e-02 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 237674088 11083461 pilot_1_CEU_7278717_chr19_43635832 6.91e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 243880895 11083461 pilot_1_CHB+JPT_5765972_chr19_43635832 6.91e-02 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 255668122 11083461 SNP49570_19_43635832 6.91e-02 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 283205856 11083461 GMI_AK_SNP_7526277 6.91e-02 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.38943992T>C;NG_008866.1:g.24653T>C;NM_000540.2:c.1440+338T>C;NM_001042723.1:c.1440+338T>C 292248456 11083461 SNP_1754814_chr19_43635832 6.91e-02 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38944087G>A;NG_008866.1:g.24748G>A;NM_000540.2:c.1440+433G>A;NM_001042723.1:c.1440+433G>A 155887332 76205084 GMI_SNP_74257472 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38944087G>A;NG_008866.1:g.24748G>A;NM_000540.2:c.1440+433G>A;NM_001042723.1:c.1440+433G>A 283205857 76205084 GMI_AK_SNP_7526278 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944087G>A;NG_008866.1:g.24748G>A;NM_000540.2:c.1440+433G>A;NM_001042723.1:c.1440+433G>A 465586610 76205084 20101123_snps_11753840_chr19_38944087 1.01e-02 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 ABI 6261 NC_000019.9:g.38944132_38944133insT;NG_008866.1:g.24793_24794insT;NM_000540.2:c.1440+478_1440+479insT;NM_001042723.1:c.1440+478_1440+479insT 40965523 34348296 hCV32823829 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38944192T>C;NG_008866.1:g.24853T>C;NM_000540.2:c.1440+538T>C;NM_001042723.1:c.1440+538T>C 465586611 181233758 20101123_snps_11753841_chr19_38944192 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38944199T>C;NG_008866.1:g.24860T>C;NM_000540.2:c.1440+545T>C;NM_001042723.1:c.1440+545T>C 465586612 185754633 20101123_snps_11753842_chr19_38944199 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38944209G>A;NG_008866.1:g.24870G>A;NM_000540.2:c.1440+555G>A;NM_001042723.1:c.1440+555G>A 228135570 116410622 pilot_1_YRI_9945253_chr19_43636049 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 GMI 6261 NC_000019.9:g.38944233A>T;NG_008866.1:g.24894A>T;NM_000540.2:c.1440+579A>T;NM_001042723.1:c.1440+579A>T 283205858 139408026 GMI_AK_SNP_7526279 3.70e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944233A>T;NG_008866.1:g.24894A>T;NM_000540.2:c.1440+579A>T;NM_001042723.1:c.1440+579A>T 340454338 139408026 20100804_snps_12097879_chr19_38944233 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 10918578 6508801 chr19.NT_011109.15_11212564 1.01e-02 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 12450258 6508801 chr19.NT_011109.15_11212564 1.01e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 16798262 6508801 CSHL-HuAA-200402.chr19.NT_011109.15_11212564 1.01e-02 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 21509527 6508801 WGSA-200403-chr19.chr19.NT_011109.15_11212564 1.01e-02 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 90969816 6508801 JWB-1168156 1.01e-02 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 96266946 6508801 1103691141759 1.01e-02 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 106055015 6508801 BGI_rs6508801 1.01e-02 2008.09.13 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 111365161 6508801 CEU.trio.12.15.2008_3616582_chr19_43636186 1.01e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 115119940 6508801 NA19240_2008_12_16_3257533_chr19_43636186 1.01e-02 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 117702482 6508801 NA18507_000043835_NCBI36.1_chr19_43636186 1.01e-02 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 136267615 6508801 ENSSNP1527863 1.01e-02 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 137670229 6508801 ENSSNP5783007 1.01e-02 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 155887339 6508801 GMI_SNP_120737467 1.01e-02 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 168182577 6508801 NA07022_36_chr19_43636186 1.01e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 169706006 6508801 NA19240_36_chr19_43636186 1.01e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 171754057 6508801 NA20431_36_chr19_43636186 1.01e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 203750817 6508801 BUSHMAN-chr19-43636185 1.01e-02 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 228135571 6508801 pilot_1_YRI_9945254_chr19_43636186 1.01e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 237674089 6508801 pilot_1_CEU_7278718_chr19_43636186 1.01e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 243880896 6508801 pilot_1_CHB+JPT_5765973_chr19_43636186 1.01e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 255668127 6508801 SNP49571_19_43636186 1.01e-02 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 283205859 6508801 GMI_AK_SNP_7526280 1.01e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 292248457 6508801 SNP_1754815_chr19_43636186 1.01e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 483825886 6508801 HumanOmni2.5-4v1_B_SNP19-43636186-0_T_F_1622818858 1.01e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38944346A>G;NG_008866.1:g.25007A>G;NM_000540.2:c.1440+692A>G;NM_001042723.1:c.1440+692A>G 484060993 6508801 HumanOmni2.5-4v1_D_kgp8276573-0_T_F_1816454873 1.01e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944399C>T;NG_008866.1:g.25060C>T;NM_000540.2:c.1440+745C>T;NM_001042723.1:c.1440+745C>T 465586613 189727800 20101123_snps_11753843_chr19_38944399 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38944502G>A;NG_008866.1:g.25163G>A;NM_000540.2:c.1440+848G>A;NM_001042723.1:c.1440+848G>A 465586614 182296563 20101123_snps_11753844_chr19_38944502 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38944602T>A;NG_008866.1:g.25263T>A;NM_000540.2:c.1440+948T>A;NM_001042723.1:c.1440+948T>A 340454339 143874078 20100804_snps_12097880_chr19_38944602 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38944652C>T;NG_008866.1:g.25313C>T;NM_000540.2:c.1440+998C>T;NM_001042723.1:c.1440+998C>T 465586615 187720827 20101123_snps_11753845_chr19_38944652 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 10919550 7246436 chr19.NT_011109.15_11212934 3.59e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 16798695 7246436 CSHL-HuAA-200402.chr19.NT_011109.15_11212934 3.59e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 21512842 7246436 WGSA-200403-chr19.chr19.NT_011109.15_11212934 3.59e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 90969817 7246436 JWB-1168157 3.59e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 96266947 7246436 1103691141760 3.59e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 136267611 7246436 ENSSNP1527864 3.59e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 137670232 7246436 ENSSNP11444281 3.59e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 155887344 7246436 GMI_SNP_221526924 3.59e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 168182589 7246436 NA07022_36_chr19_43636556 3.59e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 169706030 7246436 NA19240_36_chr19_43636556 3.59e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 171754065 7246436 NA20431_36_chr19_43636556 3.59e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 208515016 7246436 BCM_CMT_1011-3129592 3.59e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 255668132 7246436 SNP49572_19_43636556 3.59e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 283205860 7246436 GMI_AK_SNP_7526281 3.59e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 292248458 7246436 SNP_1754816_chr19_43636556 3.59e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944716A>G;NG_008866.1:g.25377A>G;NM_000540.2:c.1440+1062A>G;NM_001042723.1:c.1440+1062A>G 340454340 7246436 20100804_snps_12097881_chr19_38944716 3.59e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 10919564 7246443 chr19.NT_011109.15_11212945 3.72e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 16798698 7246443 CSHL-HuAA-200402.chr19.NT_011109.15_11212945 3.72e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 21512873 7246443 WGSA-200403-chr19.chr19.NT_011109.15_11212945 3.72e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 90969820 7246443 JWB-1168158 3.72e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 96266948 7246443 1103691141761 3.72e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 136267609 7246443 ENSSNP1527865 3.72e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 137670235 7246443 ENSSNP5778712 3.72e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 155887350 7246443 GMI_SNP_201489570 3.72e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 168182604 7246443 NA07022_36_chr19_43636567 3.72e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 169706049 7246443 NA19240_36_chr19_43636567 3.72e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 171754073 7246443 NA20431_36_chr19_43636567 3.72e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 208500761 7246443 BCM_CMT_1011-3124565 3.72e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 255668140 7246443 SNP49573_19_43636567 3.72e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 283205861 7246443 GMI_AK_SNP_7526282 3.72e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 292248459 7246443 SNP_1754817_chr19_43636567 3.72e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944727A>C;NG_008866.1:g.25388A>C;NM_000540.2:c.1440+1073A>C;NM_001042723.1:c.1440+1073A>C 340454341 7246443 20100804_snps_12097882_chr19_38944727 3.72e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38944736G>A;NG_008866.1:g.25397G>A;NM_000540.2:c.1440+1082G>A;NM_001042723.1:c.1440+1082G>A 340454342 144743826 20100804_snps_12097883_chr19_38944736 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38944738G>A;NG_008866.1:g.25399G>A;NM_000540.2:c.1440+1084G>A;NM_001042723.1:c.1440+1084G>A 340454343 145743312 20100804_snps_12097884_chr19_38944738 5.72e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38944873T>A;NG_008866.1:g.25534T>A;NM_000540.2:c.1441-1002T>A;NM_001042723.1:c.1441-1002T>A 340454344 148457702 20100804_snps_12097885_chr19_38944873 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.38944888C>G;NG_008866.1:g.25549C>G;NM_000540.2:c.1441-987C>G;NM_001042723.1:c.1441-987C>G 255668143 146784929 SNP49574_19_43636728 1.47e-02 2010.08.20 2010.08.20 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38944888C>G;NG_008866.1:g.25549C>G;NM_000540.2:c.1441-987C>G;NM_001042723.1:c.1441-987C>G 340454345 146784929 20100804_snps_12097886_chr19_38944888 1.47e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38944941A>G;NG_008866.1:g.25602A>G;NM_000540.2:c.1441-934A>G;NM_001042723.1:c.1441-934A>G 465586616 192249137 20101123_snps_11753846_chr19_38944941 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38944975C>T;NG_008866.1:g.25636C>T;NM_000540.2:c.1441-900C>T;NM_001042723.1:c.1441-900C>T 340454346 151022828 20100804_snps_12097887_chr19_38944975 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38945092A>G;NG_008866.1:g.25753A>G;NM_000540.2:c.1441-783A>G;NM_001042723.1:c.1441-783A>G 340454347 141105850 20100804_snps_12097888_chr19_38945092 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38945175T>C;NG_008866.1:g.25836T>C;NM_000540.2:c.1441-700T>C;NM_001042723.1:c.1441-700T>C 465586617 184082631 20101123_snps_11753847_chr19_38945175 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 21537505 12980439 WGSA-200403-chr19.chr19.NT_011109.15_11213458 3.64e-01 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 77472362 12980439 Cor12156_SNV_20070510.chr19_43637080 3.64e-01 2007.10.13 2007.10.13 2004.04.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 90969822 12980439 JWB-1168159 3.64e-01 2008.03.01 2008.03.01 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 96266949 12980439 1103691141762 3.64e-01 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 103437713 12980439 BGI_rs12980439 3.64e-01 2008.06.06 2009.06.17 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 111365184 12980439 CEU.trio.12.15.2008_3616585_chr19_43637080 3.64e-01 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 115119959 12980439 NA19240_2008_12_16_3257535_chr19_43637080 3.64e-01 2008.12.19 2008.12.19 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 136267606 12980439 ENSSNP1527866 3.64e-01 2009.05.15 2009.10.15 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 137670237 12980439 ENSSNP11444283 3.64e-01 2009.05.16 2009.05.16 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 168182616 12980439 NA07022_36_chr19_43637080 3.64e-01 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 169706071 12980439 NA19240_36_chr19_43637080 3.64e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 171754081 12980439 NA20431_36_chr19_43637080 3.64e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 203750818 12980439 BUSHMAN-chr19-43637079 3.64e-01 2010.03.09 2010.03.09 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 208459385 12980439 BCM_CMT_1011-3110651 3.64e-01 2010.03.19 2010.03.19 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 228135573 12980439 pilot_1_YRI_9945256_chr19_43637080 3.64e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 237674090 12980439 pilot_1_CEU_7278719_chr19_43637080 3.64e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 243880897 12980439 pilot_1_CHB+JPT_5765974_chr19_43637080 3.64e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 255668149 12980439 SNP49575_19_43637080 3.64e-01 2010.08.20 2010.08.20 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 283205862 12980439 GMI_AK_SNP_7526283 3.64e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38945240A>G;NG_008866.1:g.25901A>G;NM_000540.2:c.1441-635A>G;NM_001042723.1:c.1441-635A>G 292248460 12980439 SNP_1754818_chr19_43637080 3.64e-01 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945261C>T;NG_008866.1:g.25922C>T;NM_000540.2:c.1441-614C>T;NM_001042723.1:c.1441-614C>T 465586618 188568686 20101123_snps_11753848_chr19_38945261 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 12457341 8104269 chr19.NT_011109.15_11213620 4.25e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 21539081 8104269 WGSA-200403-chr19.chr19.NT_011109.15_11213620 4.25e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 41010649 8104269 hCV26218813 4.25e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 75058531 8104269 ILMN_Human_1M_rs8104269 4.25e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 77551325 8104269 Cor12156_SNV_20070510.chr19_43637242 4.25e-01 2007.10.13 2007.10.13 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 90969824 8104269 JWB-1168160 4.25e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 96266950 8104269 1103691141763 4.25e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 103437714 8104269 BGI_rs8104269 4.25e-01 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 111365192 8104269 CEU.trio.12.15.2008_3616586_chr19_43637242 4.25e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 115119963 8104269 NA19240_2008_12_16_3257536_chr19_43637242 4.25e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 119584658 8104269 KHS1746905 4.25e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 136267602 8104269 ENSSNP1527868 4.25e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 137670240 8104269 ENSSNP5838151 4.25e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 155887358 8104269 GMI_SNP_516606727 4.25e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 168182627 8104269 NA07022_36_chr19_43637242 4.25e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 169706090 8104269 NA19240_36_chr19_43637242 4.25e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 174720671 8104269 Human1M-Duov3_B_rs8104269-128_T_F_1514053502 4.25e-01 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 208498621 8104269 BCM_CMT_1011-3123805 4.25e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 228135574 8104269 pilot_1_YRI_9945257_chr19_43637242 4.25e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 237674091 8104269 pilot_1_CEU_7278720_chr19_43637242 4.25e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 243880898 8104269 pilot_1_CHB+JPT_5765975_chr19_43637242 4.25e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 255668154 8104269 SNP49576_19_43637242 4.25e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 283205863 8104269 GMI_AK_SNP_7526284 4.25e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38945402A>G;NG_008866.1:g.26063A>G;NM_000540.2:c.1441-473A>G;NM_001042723.1:c.1441-473A>G 292248461 8104269 SNP_1754819_chr19_43637242 4.25e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945428T>A;NG_008866.1:g.26089T>A;NM_000540.2:c.1441-447T>A;NM_001042723.1:c.1441-447T>A 283205864 201738668 GMI_AK_SNP_7526285 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 6261 NC_000019.9:g.38945429_38945430insA;NG_008866.1:g.26090_26091insA;NM_000540.2:c.1441-446_1441-445insA;NM_001042723.1:c.1441-446_1441-445insA 101472300 72192667 INDEL_GP36_2008a_1256060_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38945429_38945430insA;NG_008866.1:g.26090_26091insA;NM_000540.2:c.1441-446_1441-445insA;NM_001042723.1:c.1441-446_1441-445insA 288525672 72192667 GMI_NA10851_INDEL_296297 2010.12.22 2010.12.22 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38945429_38945430insA;NG_008866.1:g.26090_26091insA;NM_000540.2:c.1441-446_1441-445insA;NM_001042723.1:c.1441-446_1441-445insA 289387887 72192667 GMI_AK_INDEL_1065344 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.38945429_38945430insA;NG_008866.1:g.26090_26091insA;NM_000540.2:c.1441-446_1441-445insA;NM_001042723.1:c.1441-446_1441-445insA 294962528 72192667 DIP_400232_chr19_43637273 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38945579A>G;NG_008866.1:g.26240A>G;NM_000540.2:c.1441-296A>G;NM_001042723.1:c.1441-296A>G 203750819 113333964 BUSHMAN-chr19-43637418 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 HGSV 6261 NC_000019.9:g.38945588delG;NG_008866.1:g.26249delG;NM_000540.2:c.1441-287delG;NM_001042723.1:c.1441-287delG 83114642 60592963 Cor19240_DIV_20070510.chr19_43637428-43637430_1 2007.12.04 2007.12.04 2007.12.16 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38945608A>C;NG_008866.1:g.26269A>C;NM_000540.2:c.1441-267A>C;NM_001042723.1:c.1441-267A>C 465586619 192973721 20101123_snps_11753849_chr19_38945608 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 10926903 7250476 chr19.NT_011109.15_11213858 7.05e-02 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 21540957 7250476 WGSA-200403-chr19.chr19.NT_011109.15_11213858 7.05e-02 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 24683448 7250476 afd3509134 7.05e-02 2004.08.21 2004.09.13 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 78439383 7250476 Cor12878_SNV_20070510.chr19_43637480 7.05e-02 2007.10.19 2007.10.19 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 80151420 7250476 Cor18507_SNV_20070510.chr19_43637480 7.05e-02 2007.11.24 2007.11.24 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 84165095 7250476 Cor19240_SNV_20070510.chr19_43637480 7.05e-02 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 90969826 7250476 JWB-1168161 7.05e-02 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 96266951 7250476 1103691141764 7.05e-02 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 106055016 7250476 BGI_rs7250476 7.05e-02 2008.09.13 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 111365200 7250476 CEU.trio.12.15.2008_3616587_chr19_43637480 7.05e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 115119971 7250476 NA19240_2008_12_16_3257537_chr19_43637480 7.05e-02 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 117702484 7250476 NA18507_000043836_NCBI36.1_chr19_43637480 7.05e-02 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 136267600 7250476 ENSSNP1527869 7.05e-02 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 137670244 7250476 ENSSNP6375951 7.05e-02 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 155887366 7250476 GMI_SNP_40846672 7.05e-02 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 168182640 7250476 NA07022_36_chr19_43637480 7.05e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 169706104 7250476 NA19240_36_chr19_43637480 7.05e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 171754092 7250476 NA20431_36_chr19_43637480 7.05e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 203750820 7250476 BUSHMAN-chr19-43637479 7.05e-02 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 208399780 7250476 BCM_CMT_1011-3090833 7.05e-02 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 228135576 7250476 pilot_1_YRI_9945259_chr19_43637480 7.05e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 237674092 7250476 pilot_1_CEU_7278721_chr19_43637480 7.05e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 243880899 7250476 pilot_1_CHB+JPT_5765976_chr19_43637480 7.05e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 255668158 7250476 SNP49577_19_43637480 7.05e-02 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 283205865 7250476 GMI_AK_SNP_7526286 7.05e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38945640A>G;NG_008866.1:g.26301A>G;NM_000540.2:c.1441-235A>G;NM_001042723.1:c.1441-235A>G 292248462 7250476 SNP_1754820_chr19_43637480 7.05e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945666G>A;NG_008866.1:g.26327G>A;NM_000540.2:c.1441-209G>A;NM_001042723.1:c.1441-209G>A 243880900 116872040 pilot_1_CHB+JPT_5765977_chr19_43637506 2.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38945713G>A;NG_008866.1:g.26374G>A;NM_000540.2:c.1441-162G>A;NM_001042723.1:c.1441-162G>A 228135577 116715161 pilot_1_YRI_9945260_chr19_43637553 8.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38945829G>A;NG_008866.1:g.26490G>A;NM_000540.2:c.1441-46G>A;NM_001042723.1:c.1441-46G>A 489164368 200596247 20110521_exome_255578_chr19_38945829 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38945843T>C;NG_008866.1:g.26504T>C;NM_000540.2:c.1441-32T>C;NM_001042723.1:c.1441-32T>C 203750821 113890189 BUSHMAN-chr19-43637682 8.70e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945843T>C;NG_008866.1:g.26504T>C;NM_000540.2:c.1441-32T>C;NM_001042723.1:c.1441-32T>C 228135578 113890189 pilot_1_YRI_9945261_chr19_43637683 8.70e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945843T>C;NG_008866.1:g.26504T>C;NM_000540.2:c.1441-32T>C;NM_001042723.1:c.1441-32T>C 491157919 113890189 20110521_exome_665717_chr19_38945843 8.70e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945844A>G;NG_008866.1:g.26505A>G;NM_000540.2:c.1441-31A>G;NM_001042723.1:c.1441-31A>G 340454348 144623798 20100804_snps_12097889_chr19_38945844 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945844A>G;NG_008866.1:g.26505A>G;NM_000540.2:c.1441-31A>G;NM_001042723.1:c.1441-31A>G 491157920 144623798 20110521_exome_665718_chr19_38945844 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 10934613 7254832 chr19.NT_011109.15_11214069 7.10e-02 germline untested 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 21518463 7254832 WGSA-200403-chr19.chr19.NT_011109.15_11214069 7.10e-02 germline untested 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 24683449 7254832 afd3509135 7.10e-02 germline untested 2004.08.21 2004.09.13 2003.07.11 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 52081623 7254832 NT_011109.15_11214069 7.10e-02 germline untested 2006.03.29 2008.03.31 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 66040353 7254832 SNP_A-1791707 7.10e-02 germline untested 2006.10.27 2008.03.31 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 69228156 7254832 PGP03509135 7.10e-02 germline untested 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 75933022 7254832 AFFY_6_1M_SNP_A-1791707 7.10e-02 germline untested 2007.08.29 2010.03.07 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 81765853 7254832 Cor18555_SNV_20070510.chr19_43637691 7.10e-02 germline untested 2007.12.01 2007.12.01 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 82362949 7254832 Cor19240_SNV_20070510.chr19_43637691 7.10e-02 germline untested 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 82414418 7254832 KHS247451 7.10e-02 unknown untested 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 90969829 7254832 JWB-1168162 7.10e-02 unknown untested 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 96266952 7254832 1103691141765 7.10e-02 unknown untested 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 106055017 7254832 BGI_rs7254832 7.10e-02 unknown untested 2008.09.13 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 111365208 7254832 CEU.trio.12.15.2008_3616588_chr19_43637691 7.10e-02 germline untested 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 115119980 7254832 NA19240_2008_12_16_3257538_chr19_43637691 7.10e-02 unknown untested 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 117702485 7254832 NA18507_000043837_NCBI36.1_chr19_43637691 7.10e-02 germline untested 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 136267596 7254832 ENSSNP1527870 7.10e-02 unknown untested 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 137670246 7254832 ENSSNP11444286 7.10e-02 germline untested 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 155887374 7254832 GMI_SNP_40676794 7.10e-02 germline untested 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 160866198 7254832 HumanOmni1-Quad_v1-0_B_rs7254832-128_T_R_1518260932 7.10e-02 germline untested 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 168182653 7254832 NA07022_36_chr19_43637691 7.10e-02 unknown untested 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 169313178 7254832 GenomeWideSNP_5_SNP_A-1791707 7.10e-02 unknown untested 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 169706120 7254832 NA19240_36_chr19_43637691 7.10e-02 unknown untested 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 171754098 7254832 NA20431_36_chr19_43637691 7.10e-02 germline untested 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 174311717 7254832 Human1M-Duov3_B_rs7254832-128_T_R_1518260932 7.10e-02 germline untested 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 203750822 7254832 BUSHMAN-chr19-43637690 7.10e-02 unknown untested 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 208430495 7254832 BCM_CMT_1011-3101030 7.10e-02 germline untested 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 228135579 7254832 pilot_1_YRI_9945262_chr19_43637691 7.10e-02 unknown untested 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 237674093 7254832 pilot_1_CEU_7278722_chr19_43637691 7.10e-02 germline untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 243880901 7254832 pilot_1_CHB+JPT_5765978_chr19_43637691 7.10e-02 unknown untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 255668163 7254832 SNP49578_19_43637691 7.10e-02 germline untested 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 283205866 7254832 GMI_AK_SNP_7526287 7.10e-02 germline untested 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 292248463 7254832 SNP_1754821_chr19_43637691 7.10e-02 germline untested 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1441-24T>C NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 475871464 7254832 RYR1_00336 7.10e-02 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 481524737 7254832 HumanOmni2.5-4v1_B_rs7254832-128_T_R_1782923394 7.10e-02 germline untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 481553522 7254832 HumanOmniExpress-12v1_C_rs7254832-131_T_R_1857232455 7.10e-02 germline untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 482527832 7254832 HumanOmni1-Quad_v1-0_C_rs7254832-131_T_R_1865265722 7.10e-02 unknown untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 485557412 7254832 HumanOmni2.5-4v1_D_rs7254832-131_T_R_1857232455 7.10e-02 germline untested 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 491157921 7254832 20110521_exome_665719_chr19_38945851 7.10e-02 unknown untested 2012.02.22 2012.02.22 2003.07.11 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38945851T>C;NG_008866.1:g.26512T>C;NM_000540.2:c.1441-24T>C;NM_001042723.1:c.1441-24T>C 491766128 7254832 SNV-chr19-43637691 7.10e-02 germline untested 2012.03.07 2012.03.13 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945852G>A;NG_008866.1:g.26513G>A;NM_000540.2:c.1441-23G>A;NM_001042723.1:c.1441-23G>A 489164370 200098574 20110521_exome_255579_chr19_38945852 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38945887A>G;NG_008866.1:g.26548A>G;NM_000540.2:c.1453A>G;NM_001042723.1:c.1453A>G;NP_000531.2:p.Met485Val;NP_001036188.1:p.Met485Val 342496385 147723844 ESP2500-chr19-38945887 2.30e-03 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1453A>G NC_000019.9:g.38945887A>G;NG_008866.1:g.26548A>G;NM_000540.2:c.1453A>G;NM_001042723.1:c.1453A>G;NP_000531.2:p.Met485Val;NP_001036188.1:p.Met485Val 475871465 147723844 RYR1_00281 2.30e-03 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38945887A>G;NG_008866.1:g.26548A>G;NM_000540.2:c.1453A>G;NM_001042723.1:c.1453A>G;NP_000531.2:p.Met485Val;NP_001036188.1:p.Met485Val 489164372 147723844 20110521_exome_255580_chr19_38945887 2.30e-03 germline untested 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38945887A>G;NG_008866.1:g.26548A>G;NM_000540.2:c.1453A>G;NM_001042723.1:c.1453A>G;NP_000531.2:p.Met485Val;NP_001036188.1:p.Met485Val 491546421 147723844 nonsyn_262647_chr_19_38945887 2.30e-03 unknown untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38945887A>G;NG_008866.1:g.26548A>G;NM_000540.2:c.1453A>G;NM_001042723.1:c.1453A>G;NP_000531.2:p.Met485Val;NP_001036188.1:p.Met485Val 491766129 147723844 SNV-chr19-43637727 2.30e-03 unknown untested 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38945908C>T;NG_008866.1:g.26569C>T;NM_000540.2:c.1474C>T;NM_001042723.1:c.1474C>T;NP_000531.2:p.Arg492Cys;NP_001036188.1:p.Arg492Cys 491766130 199826952 SNV-chr19-43637748 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38945948T>G;NG_008866.1:g.26609T>G;NM_000540.2:c.1514T>G;NM_001042723.1:c.1514T>G;NP_000531.2:p.Phe505Cys;NP_001036188.1:p.Phe505Cys 342496386 142521339 ESP2500-chr19-38945948 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.1534G>A NC_000019.9:g.38945968G>A;NG_008866.1:g.26629G>A;NM_000540.2:c.1534G>A;NM_001042723.1:c.1534G>A;NP_000531.2:p.Glu512Lys;NP_001036188.1:p.Glu512Lys 252444687 118192119 CCORE_9 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1534G>A NC_000019.9:g.38945968G>A;NG_008866.1:g.26629G>A;NM_000540.2:c.1534G>A;NM_001042723.1:c.1534G>A;NP_000531.2:p.Glu512Lys;NP_001036188.1:p.Glu512Lys 475871466 118192119 RYR1_00253 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.1565A>C NC_000019.9:g.38945999A>C;NC_000019.9:g.38945999A>G;NG_008866.1:g.26660A>C;NG_008866.1:g.26660A>G;NM_000540.2:c.1565A>C;NM_000540.2:c.1565A>G;NM_001042723.1:c.1565A>C;NM_001042723.1:c.1565A>G;NP_000531.2:p.Tyr522Cys;NP_000531.2:p.Tyr522Ser;NP_001036188.1:p.Tyr522Cys;NP_001036188.1:p.Tyr522Ser 252444730 118192162 CCORE_64 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.TYR522SER NC_000019.9:g.38945999A>C;NC_000019.9:g.38945999A>G;NG_008866.1:g.26660A>C;NG_008866.1:g.26660A>G;NM_000540.2:c.1565A>C;NM_000540.2:c.1565A>G;NM_001042723.1:c.1565A>C;NM_001042723.1:c.1565A>G;NP_000531.2:p.Tyr522Cys;NP_000531.2:p.Tyr522Ser;NP_001036188.1:p.Tyr522Cys;NP_001036188.1:p.Tyr522Ser 275518450 118192162 5326 unknown pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.1565A>C NC_000019.9:g.38945999A>C;NC_000019.9:g.38945999A>G;NG_008866.1:g.26660A>C;NG_008866.1:g.26660A>G;NM_000540.2:c.1565A>C;NM_000540.2:c.1565A>G;NM_001042723.1:c.1565A>C;NM_001042723.1:c.1565A>G;NP_000531.2:p.Tyr522Cys;NP_000531.2:p.Tyr522Ser;NP_001036188.1:p.Tyr522Cys;NP_001036188.1:p.Tyr522Ser 475871467 118192162 RYR1_00170 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.1565A>G NC_000019.9:g.38945999A>C;NC_000019.9:g.38945999A>G;NG_008866.1:g.26660A>C;NG_008866.1:g.26660A>G;NM_000540.2:c.1565A>C;NM_000540.2:c.1565A>G;NM_001042723.1:c.1565A>C;NM_001042723.1:c.1565A>G;NP_000531.2:p.Tyr522Cys;NP_000531.2:p.Tyr522Ser;NP_001036188.1:p.Tyr522Cys;NP_001036188.1:p.Tyr522Ser 475871468 118192162 RYR1_00219 unknown pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 HGSV 6261 NC_000019.9:g.38946085C>G;NG_008866.1:g.26746C>G;NM_000540.2:c.1577-6C>G;NM_001042723.1:c.1577-6C>G 84758117 61586345 Cor19129_SNV_20070510.chr19_43637925 2.20e-02 2007.12.07 2007.12.07 2007.12.16 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38946085C>G;NG_008866.1:g.26746C>G;NM_000540.2:c.1577-6C>G;NM_001042723.1:c.1577-6C>G 203750823 61586345 BUSHMAN-chr19-43637924 2.20e-02 2010.03.09 2010.03.09 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946085C>G;NG_008866.1:g.26746C>G;NM_000540.2:c.1577-6C>G;NM_001042723.1:c.1577-6C>G 228135580 61586345 pilot_1_YRI_9945263_chr19_43637925 2.20e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946085C>G;NG_008866.1:g.26746C>G;NM_000540.2:c.1577-6C>G;NM_001042723.1:c.1577-6C>G 491157922 61586345 20110521_exome_665720_chr19_38946085 2.20e-02 2012.02.22 2012.02.22 2007.12.16 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38946085C>G;NG_008866.1:g.26746C>G;NM_000540.2:c.1577-6C>G;NM_001042723.1:c.1577-6C>G 491766131 61586345 SNV-chr19-43637925 2.20e-02 2012.03.07 2012.03.13 2007.12.16 2012.11.28 137 POPS 6261 NC_000019.9:g.38946103G>A;NG_008866.1:g.26764G>A;NM_000540.2:c.1589G>A;NM_001042723.1:c.1589G>A;NP_000531.2:p.Arg530His;NP_001036188.1:p.Arg530His 182258904 111888148 MHY4 unknown untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1589G>A NC_000019.9:g.38946103G>A;NG_008866.1:g.26764G>A;NM_000540.2:c.1589G>A;NM_001042723.1:c.1589G>A;NP_000531.2:p.Arg530His;NP_001036188.1:p.Arg530His 475871469 111888148 RYR1_00140 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1597C>T NC_000019.9:g.38946111C>T;NG_008866.1:g.26772C>T;NM_000540.2:c.1597C>T;NM_001042723.1:c.1597C>T;NP_000531.2:p.Arg533Cys;NP_001036188.1:p.Arg533Cys 475871470 193922768 RYR1_00214 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38946112G>A;NG_008866.1:g.26773G>A;NM_000540.2:c.1598G>A;NM_001042723.1:c.1598G>A;NP_000531.2:p.Arg533His;NP_001036188.1:p.Arg533His 342496387 144336148 ESP2500-chr19-38946112 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1598G>A NC_000019.9:g.38946112G>A;NG_008866.1:g.26773G>A;NM_000540.2:c.1598G>A;NM_001042723.1:c.1598G>A;NP_000531.2:p.Arg533His;NP_001036188.1:p.Arg533His 475871471 144336148 RYR1_00226 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38946112G>A;NG_008866.1:g.26773G>A;NM_000540.2:c.1598G>A;NM_001042723.1:c.1598G>A;NP_000531.2:p.Arg533His;NP_001036188.1:p.Arg533His 491546422 144336148 nonsyn_262648_chr_19_38946112 germline untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1615T>C NC_000019.9:g.38946129T>C;NG_008866.1:g.26790T>C;NM_000540.2:c.1615T>C;NM_001042723.1:c.1615T>C;NP_000531.2:p.Phe539Leu;NP_001036188.1:p.Phe539Leu 475871472 193922769 RYR1_00311 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 POPS 6261 NC_000019.9:g.38946144G>T;NG_008866.1:g.26805G>T;NM_000540.2:c.1630G>T;NM_001042723.1:c.1630G>T;NP_000531.2:p.Asp544Tyr;NP_001036188.1:p.Asp544Tyr 182258905 113812662 MHY5 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.1654C>T NC_000019.9:g.38946168C>T;NG_008866.1:g.26829C>T;NM_000540.2:c.1654C>T;NM_001042723.1:c.1654C>T;NP_000531.2:p.Arg552Trp;NP_001036188.1:p.Arg552Trp 475871473 193922770 RYR1_00089 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 YUSUKE 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 3230184 2288888 IMS-JST040269 3.64e-01 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 14714488 2288888 chr19.NT_011109.15_11214400 3.64e-01 germline untested 2003.11.10 2006.10.25 2001.09.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 21517155 2288888 WGSA-200403-chr19.chr19.NT_011109.15_11214400 3.64e-01 germline untested 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 23763089 2288888 afd4497126 3.64e-01 germline untested 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 48430173 2288888 hCV15879992 3.64e-01 germline untested 2005.11.30 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 67242709 2288888 HumanHap550v1.1_rs2288888 3.64e-01 germline untested 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 67639523 2288888 HumanHap650Yv1.0_rs2288888 3.64e-01 germline untested 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 68201566 2288888 HumanHap250Sv1.0_rs2288888 3.64e-01 unknown untested 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 69228157 2288888 PGP04497126 3.64e-01 unknown untested 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 70721054 2288888 HumanHap550v3.0__rs2288888 3.64e-01 germline untested 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 71289448 2288888 HumanHap650Yv3.0_rs2288888 3.64e-01 germline untested 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 75536250 2288888 ILMN_Human_1M_rs2288888 3.64e-01 unknown untested 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 81977737 2288888 Cor18555_SNV_20070510.chr19_43638022 3.64e-01 germline untested 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 84023157 2288888 KHS604859 3.64e-01 unknown untested 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 90969831 2288888 JWB-1168163 3.64e-01 germline untested 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 96266953 2288888 1103691141766 3.64e-01 germline untested 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 103437715 2288888 BGI_rs2288888 3.64e-01 germline untested 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 111365216 2288888 CEU.trio.12.15.2008_3616589_chr19_43638022 3.64e-01 unknown untested 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 136267594 2288888 ENSSNP1527871 3.64e-01 germline untested 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 137670250 2288888 ENSSNP11444287 3.64e-01 germline untested 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 153899928 2288888 Human610_Quadv1_B_rs2288888-128_B_R_1502188438 3.64e-01 unknown untested 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 155887380 2288888 GMI_SNP_74125321 3.64e-01 germline untested 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 159377757 2288888 Human660W-Quad_v1_A_rs2288888-128_B_R_1502188438 3.64e-01 unknown untested 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 159739617 2288888 RYR1-43638022 3.64e-01 unknown untested 2009.07.10 2009.07.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 160529893 2288888 HumanOmni1-Quad_v1-0_B_rs2288888-128_B_R_1502188438 3.64e-01 unknown untested 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 168182666 2288888 NA07022_36_chr19_43638022 3.64e-01 germline untested 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 169706134 2288888 NA19240_36_chr19_43638022 3.64e-01 unknown untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 171754107 2288888 NA20431_36_chr19_43638022 3.64e-01 germline untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 173256185 2288888 Human1M-Duov3_B_rs2288888-128_B_R_1502188438 3.64e-01 unknown untested 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 203750824 2288888 BUSHMAN-chr19-43638021 3.64e-01 germline untested 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 211962548 2288888 YRI.trio.3.2010_1440212_chr19_43638022 3.64e-01 germline untested 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 228135581 2288888 pilot_1_YRI_9945264_chr19_43638022 3.64e-01 unknown untested 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 237674094 2288888 pilot_1_CEU_7278723_chr19_43638022 3.64e-01 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 243880902 2288888 pilot_1_CHB+JPT_5765979_chr19_43638022 3.64e-01 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 255668169 2288888 SNP49579_19_43638022 3.64e-01 germline untested 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 283205867 2288888 GMI_AK_SNP_7526288 3.64e-01 unknown untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 292248464 2288888 SNP_1754822_chr19_43638022 3.64e-01 unknown untested 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 342496388 2288888 ESP2500-chr19-38946182 3.64e-01 unknown untested 2011.03.27 2011.03.27 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1668G>A NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 475871474 2288888 RYR1_00044 3.64e-01 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 480511028 2288888 HumanOmni2.5-4v1_B_rs2288888-128_B_R_1773158018 3.64e-01 unknown untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 480525340 2288888 HumanOmniExpress-12v1_C_rs2288888-131_B_R_1857945126 3.64e-01 unknown untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 481333969 2288888 HumanOmni1-Quad_v1-0_C_rs2288888-131_B_R_1857945126 3.64e-01 germline untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 485052943 2288888 HumanOmni2.5-4v1_D_rs2288888-131_B_R_1857945126 3.64e-01 unknown untested 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 491157923 2288888 20110521_exome_665721_chr19_38946182 3.64e-01 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38946182G>A;NG_008866.1:g.26843G>A;NM_000540.2:c.1668G>A;NM_001042723.1:c.1668G>A;NP_000531.2:p.Ser556=;NP_001036188.1:p.Ser556= 491766132 2288888 SNV-chr19-43638022 3.64e-01 germline untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 3230185 2288889 IMS-JST040270 3.63e-01 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 14714512 2288889 chr19.NT_011109.15_11214433 3.63e-01 germline untested 2003.11.10 2004.04.07 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 17624259 2288889 CSHL-HuCC-200402.chr19.NT_011109.15_11214433 3.63e-01 germline untested 2004.02.19 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 21517233 2288889 WGSA-200403-chr19.chr19.NT_011109.15_11214433 3.63e-01 germline untested 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 52075066 2288889 NT_011109.15_11214433 3.63e-01 germline untested 2006.03.29 2007.08.14 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 81672019 2288889 Cor18555_SNV_20070510.chr19_43638055 3.63e-01 unknown untested 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 90969833 2288889 JWB-1168164 3.63e-01 germline untested 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 96266954 2288889 1103691141767 3.63e-01 germline untested 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 103437716 2288889 BGI_rs2288889 3.63e-01 unknown untested 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 111365224 2288889 CEU.trio.12.15.2008_3616590_chr19_43638055 3.63e-01 germline untested 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 115119993 2288889 NA19240_2008_12_16_3257539_chr19_43638055 3.63e-01 germline untested 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 136267591 2288889 ENSSNP1527872 3.63e-01 unknown untested 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 137670253 2288889 ENSSNP6952449 3.63e-01 unknown untested 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 155887389 2288889 GMI_SNP_241314720 3.63e-01 germline untested 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 168182679 2288889 NA07022_36_chr19_43638055 3.63e-01 germline untested 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 169706154 2288889 NA19240_36_chr19_43638055 3.63e-01 germline untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 171754113 2288889 NA20431_36_chr19_43638055 3.63e-01 unknown untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 203750825 2288889 BUSHMAN-chr19-43638054 3.63e-01 germline untested 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 208500985 2288889 BCM_CMT_1011-3124644 3.63e-01 unknown untested 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 228135582 2288889 pilot_1_YRI_9945265_chr19_43638055 3.63e-01 unknown untested 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 237674095 2288889 pilot_1_CEU_7278724_chr19_43638055 3.63e-01 unknown untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 243880903 2288889 pilot_1_CHB+JPT_5765980_chr19_43638055 3.63e-01 unknown untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 255668173 2288889 SNP49580_19_43638055 3.63e-01 unknown untested 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 283205868 2288889 GMI_AK_SNP_7526289 3.63e-01 germline untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 292248465 2288889 SNP_1754823_chr19_43638055 3.63e-01 unknown untested 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1672+29G>C NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 475871475 2288889 RYR1_00338 3.63e-01 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 491157924 2288889 20110521_exome_665722_chr19_38946215 3.63e-01 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38946215G>C;NG_008866.1:g.26876G>C;NM_000540.2:c.1672+29G>C;NM_001042723.1:c.1672+29G>C 491766133 2288889 SNV-chr19-43638055 3.63e-01 germline untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1739_1742dup NC_000019.9:g.38946339_38946342dupATCA;NG_008866.1:g.27000_27003dupATCA;NM_000540.2:c.1739_1742dupATCA;NM_001042723.1:c.1739_1742dupATCA;NP_000531.2:p.Asn580_His581delinsAsnGlnSerHisfs;NP_001036188.1:p.Asn580_His581delinsAsnGlnSerHisfs 475871476 193922771 RYR1_00316 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38946353A>G;NG_008866.1:g.27014A>G;NM_000540.2:c.1753A>G;NM_001042723.1:c.1753A>G;NP_000531.2:p.Ile585Val;NP_001036188.1:p.Ile585Val 491766134 200770015 SNV-chr19-43638193 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946381G>A;NG_008866.1:g.27042G>A;NM_000540.2:c.1781G>A;NM_001042723.1:c.1781G>A;NP_000531.2:p.Arg594Lys;NP_001036188.1:p.Arg594Lys 465586620 183860084 20101123_snps_11753850_chr19_38946381 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946381G>A;NG_008866.1:g.27042G>A;NM_000540.2:c.1781G>A;NM_001042723.1:c.1781G>A;NP_000531.2:p.Arg594Lys;NP_001036188.1:p.Arg594Lys 491157925 183860084 20110521_exome_665723_chr19_38946381 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38946446C>T;NG_008866.1:g.27107C>T;NM_000540.2:c.1791+55C>T;NM_001042723.1:c.1791+55C>T 491766135 201979769 SNV-chr19-43638286 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946495A>G;NG_008866.1:g.27156A>G;NM_000540.2:c.1791+104A>G;NM_001042723.1:c.1791+104A>G 465586621 187091786 20101123_snps_11753851_chr19_38946495 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38946545C>G;NG_008866.1:g.27206C>G;NM_000540.2:c.1791+154C>G;NM_001042723.1:c.1791+154C>G 203750826 113726040 BUSHMAN-chr19-43638384 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 HGSV 6261 NC_000019.9:g.38946600C>T;NG_008866.1:g.27261C>T;NM_000540.2:c.1791+209C>T;NM_001042723.1:c.1791+209C>T 78147363 56062655 Cor12878_SNV_20070510.chr19_43638440 2007.10.18 2007.10.18 2007.12.07 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38946601T>G;NG_008866.1:g.27262T>G;NM_000540.2:c.1791+210T>G;NM_001042723.1:c.1791+210T>G 465586622 191098796 20101123_snps_11753852_chr19_38946601 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BL 6261 NC_000019.9:g.38946607G>T;NG_008866.1:g.27268G>T;NM_000540.2:c.1791+216G>T;NM_001042723.1:c.1791+216G>T 255668177 146323479 SNP49581_19_43638447 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38946608delT;NC_000019.9:g.38946608delTinsTTTTTT;NG_008866.1:g.27269delT;NG_008866.1:g.27269delTinsTTTTTT;NM_000540.2:c.1791+217delT;NM_000540.2:c.1791+217delTinsTTTTTT;NM_001042723.1:c.1791+217delT;NM_001042723.1:c.1791+217delTinsTTTTTT 14947906 10532429 INDEL_GP34_WGS_24604 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38946608delT;NC_000019.9:g.38946608delTinsTTTTTT;NG_008866.1:g.27269delT;NG_008866.1:g.27269delTinsTTTTTT;NM_000540.2:c.1791+217delT;NM_000540.2:c.1791+217delTinsTTTTTT;NM_001042723.1:c.1791+217delT;NM_001042723.1:c.1791+217delTinsTTTTTT 50360647 10532429 INDEL_GP35_WGS_640527 2006.01.24 2006.01.24 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38946608delT;NC_000019.9:g.38946608delTinsTTTTTT;NG_008866.1:g.27269delT;NG_008866.1:g.27269delTinsTTTTTT;NM_000540.2:c.1791+217delT;NM_000540.2:c.1791+217delTinsTTTTTT;NM_001042723.1:c.1791+217delT;NM_001042723.1:c.1791+217delTinsTTTTTT 99759159 10532429 INDEL_GP36_2007a_121225_0 2008.05.06 2008.05.06 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38946608delT;NC_000019.9:g.38946608delTinsTTTTTT;NG_008866.1:g.27269delT;NG_008866.1:g.27269delTinsTTTTTT;NM_000540.2:c.1791+217delT;NM_000540.2:c.1791+217delTinsTTTTTT;NM_001042723.1:c.1791+217delT;NM_001042723.1:c.1791+217delTinsTTTTTT 100164683 10532429 INDEL_GP36_2008a_2564094_0 2008.05.16 2008.05.16 2003.12.05 2012.05.11 137 GMI 6261 NC_000019.9:g.38946608_38946613delTTTTTT;NG_008866.1:g.27269_27274delTTTTTT;NM_000540.2:c.1791+217_1791+222delTTTTTT;NM_001042723.1:c.1791+217_1791+222delTTTTTT 289387888 201725585 GMI_AK_INDEL_1065345 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 ABI 6261 NC_000019.9:g.38946787delT;NG_008866.1:g.27448delT;NM_000540.2:c.1791+396delT;NM_001042723.1:c.1791+396delT 41033910 36068366 hCV32823832 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38946787delT;NG_008866.1:g.27448delT;NM_000540.2:c.1791+396delT;NM_001042723.1:c.1791+396delT 95728330 36068366 1104685411591 2008.03.23 2008.12.03 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38946787delT;NG_008866.1:g.27448delT;NM_000540.2:c.1791+396delT;NM_001042723.1:c.1791+396delT 289387889 36068366 GMI_AK_INDEL_1065346 2010.12.30 2011.12.30 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946787delT;NG_008866.1:g.27448delT;NM_000540.2:c.1791+396delT;NM_001042723.1:c.1791+396delT 328276222 36068366 YRI_chr19_43638626_indel 2011.03.13 2011.04.04 2006.03.15 2012.11.28 137 BL 6261 NC_000019.9:g.38946788T>A;NG_008866.1:g.27449T>A;NM_000540.2:c.1791+397T>A;NM_001042723.1:c.1791+397T>A 255668183 150803607 SNP49582_19_43638628 3.25e-02 2010.08.20 2010.08.20 2011.05.09 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38946788T>A;NG_008866.1:g.27449T>A;NM_000540.2:c.1791+397T>A;NM_001042723.1:c.1791+397T>A 465586623 150803607 20101123_snps_11753853_chr19_38946788 3.25e-02 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 14723642 10422917 chr19.NT_011109.15_11215069 3.64e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 21540642 10422917 WGSA-200403-chr19.chr19.NT_011109.15_11215069 3.64e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 96266955 10422917 1103691141768 3.64e-01 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 103437717 10422917 BGI_rs10422917 3.64e-01 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 155887393 10422917 GMI_SNP_74054272 3.64e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 168182690 10422917 NA07022_36_chr19_43638691 3.64e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 169706176 10422917 NA19240_36_chr19_43638691 3.64e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 171754120 10422917 NA20431_36_chr19_43638691 3.64e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 203750827 10422917 BUSHMAN-chr19-43638690 3.64e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 208511247 10422917 BCM_CMT_1011-3128271 3.64e-01 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 255668188 10422917 SNP49583_19_43638691 3.64e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 283205869 10422917 GMI_AK_SNP_7526290 3.64e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946851A>G;NG_008866.1:g.27512A>G;NM_000540.2:c.1791+460A>G;NM_001042723.1:c.1791+460A>G 340454349 10422917 20100804_snps_12097890_chr19_38946851 3.64e-01 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946867A>C;NG_008866.1:g.27528A>C;NM_000540.2:c.1791+476A>C;NM_001042723.1:c.1791+476A>C 465586624 189345609 20101123_snps_11753854_chr19_38946867 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946879G>A;NG_008866.1:g.27540G>A;NM_000540.2:c.1791+488G>A;NM_001042723.1:c.1791+488G>A 169706200 111599439 NA19240_36_chr19_43638719 6.40e-03 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38946879G>A;NG_008866.1:g.27540G>A;NM_000540.2:c.1791+488G>A;NM_001042723.1:c.1791+488G>A 203750828 111599439 BUSHMAN-chr19-43638718 6.40e-03 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38946879G>A;NG_008866.1:g.27540G>A;NM_000540.2:c.1791+488G>A;NM_001042723.1:c.1791+488G>A 340454350 111599439 20100804_snps_12097891_chr19_38946879 6.40e-03 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 14723946 10423111 chr19.NT_011109.15_11215122 3.64e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 21541447 10423111 WGSA-200403-chr19.chr19.NT_011109.15_11215122 3.64e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 85232539 10423111 Cor18517_SNV_20070510.chr19_43638744 3.64e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 103437718 10423111 BGI_rs10423111 3.64e-01 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 143707159 10423111 ENSSNP9855168 3.64e-01 2009.06.06 2009.10.17 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 168182701 10423111 NA07022_36_chr19_43638744 3.64e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 169706220 10423111 NA19240_36_chr19_43638744 3.64e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 171754127 10423111 NA20431_36_chr19_43638744 3.64e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 208522114 10423111 BCM_CMT_1011-3132031 3.64e-01 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 210946283 10423111 CEU.trio.3.2010_162534_chr19_43638744 3.64e-01 2010.03.29 2010.03.29 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 228135583 10423111 pilot_1_YRI_9945266_chr19_43638744 3.64e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 237674096 10423111 pilot_1_CEU_7278725_chr19_43638744 3.64e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 243880904 10423111 pilot_1_CHB+JPT_5765981_chr19_43638744 3.64e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 255668193 10423111 SNP49584_19_43638744 3.64e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38946904A>G;NG_008866.1:g.27565A>G;NM_000540.2:c.1791+513A>G;NM_001042723.1:c.1791+513A>G 283205870 10423111 GMI_AK_SNP_7526291 3.64e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38946907G>A;NG_008866.1:g.27568G>A;NM_000540.2:c.1791+516G>A;NM_001042723.1:c.1791+516G>A 228135584 114616410 pilot_1_YRI_9945267_chr19_43638747 2.01e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 HGSV 6261 NC_000019.9:g.38946914A>T;NG_008866.1:g.27575A>T;NM_000540.2:c.1791+523A>T;NM_001042723.1:c.1791+523A>T 81351458 61386233 Cor18507_SNV_20070510.chr19_43638754 2007.11.29 2007.11.29 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38946915_38946916insTTT;NG_008866.1:g.27576_27577insTTT;NM_000540.2:c.1791+524_1791+525insTTT;NM_001042723.1:c.1791+524_1791+525insTTT 95728331 71165549 1104685411592 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38946975G>A;NG_008866.1:g.27636G>A;NM_000540.2:c.1791+584G>A;NM_001042723.1:c.1791+584G>A 340454351 150328360 20100804_snps_12097892_chr19_38946975 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947014C>T;NG_008866.1:g.27675C>T;NM_000540.2:c.1791+623C>T;NM_001042723.1:c.1791+623C>T 465586625 182393168 20101123_snps_11753855_chr19_38947014 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38947191G>C;NG_008866.1:g.27852G>C;NM_000540.2:c.1791+800G>C;NM_001042723.1:c.1791+800G>C 340454352 137962664 20100804_snps_12097893_chr19_38947191 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947212G>A;NG_008866.1:g.27873G>A;NM_000540.2:c.1791+821G>A;NM_001042723.1:c.1791+821G>A 340454353 149405241 20100804_snps_12097894_chr19_38947212 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947357T>G;NG_008866.1:g.28018T>G;NM_000540.2:c.1792-780T>G;NM_001042723.1:c.1792-780T>G 465586626 185684085 20101123_snps_11753856_chr19_38947357 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 14725402 10424073 chr19.NT_011109.15_11215584 3.44e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 21545174 10424073 WGSA-200403-chr19.chr19.NT_011109.15_11215584 3.44e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 90969835 10424073 JWB-1168165 3.44e-01 2008.03.01 2008.03.01 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 96266956 10424073 1103691141769 3.44e-01 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 103437719 10424073 BGI_rs10424073 3.44e-01 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 111365232 10424073 CEU.trio.12.15.2008_3616591_chr19_43639206 3.44e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 115120018 10424073 NA19240_2008_12_16_3257543_chr19_43639206 3.44e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 137670255 10424073 ENSSNP6723911 3.44e-01 2009.05.16 2009.05.16 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 155887401 10424073 GMI_SNP_135286573 3.44e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 168182714 10424073 NA07022_36_chr19_43639206 3.44e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 169706233 10424073 NA19240_36_chr19_43639206 3.44e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 171754135 10424073 NA20431_36_chr19_43639206 3.44e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 203750829 10424073 BUSHMAN-chr19-43639205 3.44e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 208433046 10424073 BCM_CMT_1011-3101881 3.44e-01 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 228135585 10424073 pilot_1_YRI_9945268_chr19_43639206 3.44e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 237674097 10424073 pilot_1_CEU_7278726_chr19_43639206 3.44e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 243880905 10424073 pilot_1_CHB+JPT_5765982_chr19_43639206 3.44e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 255668198 10424073 SNP49585_19_43639206 3.44e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38947366A>T;NG_008866.1:g.28027A>T;NM_000540.2:c.1792-771A>T;NM_001042723.1:c.1792-771A>T 283205871 10424073 GMI_AK_SNP_7526292 3.44e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947462G>A;NG_008866.1:g.28123G>A;NM_000540.2:c.1792-675G>A;NM_001042723.1:c.1792-675G>A 465586627 190099117 20101123_snps_11753857_chr19_38947462 8.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38947463G>A;NG_008866.1:g.28124G>A;NM_000540.2:c.1792-674G>A;NM_001042723.1:c.1792-674G>A 465586628 181661875 20101123_snps_11753858_chr19_38947463 1.10e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38947508A>T;NG_008866.1:g.28169A>T;NM_000540.2:c.1792-629A>T;NM_001042723.1:c.1792-629A>T 465586629 185508019 20101123_snps_11753859_chr19_38947508 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38947579G>A;NG_008866.1:g.28240G>A;NM_000540.2:c.1792-558G>A;NM_001042723.1:c.1792-558G>A 340454355 148175644 20100804_snps_12097896_chr19_38947579 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947603G>A;NG_008866.1:g.28264G>A;NM_000540.2:c.1792-534G>A;NM_001042723.1:c.1792-534G>A 465586630 190282091 20101123_snps_11753860_chr19_38947603 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38947636A>C;NG_008866.1:g.28297A>C;NM_000540.2:c.1792-501A>C;NM_001042723.1:c.1792-501A>C 168182727 113695964 NA07022_36_chr19_43639476 1.74e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947636A>C;NG_008866.1:g.28297A>C;NM_000540.2:c.1792-501A>C;NM_001042723.1:c.1792-501A>C 340454356 113695964 20100804_snps_12097897_chr19_38947636 1.74e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947642C>T;NG_008866.1:g.28303C>T;NM_000540.2:c.1792-495C>T;NM_001042723.1:c.1792-495C>T 340454357 147317642 20100804_snps_12097898_chr19_38947642 1.88e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38947685_38947686insA;NG_008866.1:g.28346_28347insA;NM_000540.2:c.1792-452_1792-451insA;NM_001042723.1:c.1792-452_1792-451insA 41024036 35088425 hCV32823833 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 16809100 11673389 CSHL-HuAA-200402.chr19.NT_011109.15_11215904 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 21549286 11673389 WGSA-200403-chr19.chr19.NT_011109.15_11215904 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 40981296 11673389 hCV30930928 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 85207606 11673389 Cor19129_SNV_20070510.chr19_43639526 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38947687_38947688insAAAAA;NG_008866.1:g.28348_28349insAAAAA;NM_000540.2:c.1792-450_1792-449insAAAAA;NM_001042723.1:c.1792-450_1792-449insAAAAA 95728332 71165550 1104685411593 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 BGI 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 106055018 11673389 BGI_rs11673389 2008.09.13 2009.06.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 139745888 11673389 ENSSNP3585318 2009.05.19 2009.10.16 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 168182739 11673389 NA07022_36_chr19_43639526 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 208549221 11673389 BCM_CMT_1011-3141067 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38947686C>A;NG_008866.1:g.28347C>A;NM_000540.2:c.1792-451C>A;NM_001042723.1:c.1792-451C>A 283205872 11673389 GMI_AK_SNP_7526293 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38947754A>C;NG_008866.1:g.28415A>C;NM_000540.2:c.1792-383A>C;NM_001042723.1:c.1792-383A>C 340454358 140729088 20100804_snps_12097899_chr19_38947754 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947762C>T;NG_008866.1:g.28423C>T;NM_000540.2:c.1792-375C>T;NM_001042723.1:c.1792-375C>T 340454359 142956793 20100804_snps_12097900_chr19_38947762 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947776A>G;NG_008866.1:g.28437A>G;NM_000540.2:c.1792-361A>G;NM_001042723.1:c.1792-361A>G 465586631 181405278 20101123_snps_11753861_chr19_38947776 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38947838C>T;NG_008866.1:g.28499C>T;NM_000540.2:c.1792-299C>T;NM_001042723.1:c.1792-299C>T 340454360 150851851 20100804_snps_12097901_chr19_38947838 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947881T>C;NG_008866.1:g.28542T>C;NM_000540.2:c.1792-256T>C;NM_001042723.1:c.1792-256T>C 465586632 185297004 20101123_snps_11753862_chr19_38947881 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38947920G>C;NG_008866.1:g.28581G>C;NM_000540.2:c.1792-217G>C;NM_001042723.1:c.1792-217G>C 84830493 58037715 Cor19129_SNV_20070510.chr19_43639760 3.71e-02 2007.12.08 2007.12.08 2007.12.15 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38947920G>C;NG_008866.1:g.28581G>C;NM_000540.2:c.1792-217G>C;NM_001042723.1:c.1792-217G>C 117702488 58037715 NA18507_000043838_NCBI36.1_chr19_43639760 3.71e-02 2009.01.20 2009.01.20 2007.12.15 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38947920G>C;NG_008866.1:g.28581G>C;NM_000540.2:c.1792-217G>C;NM_001042723.1:c.1792-217G>C 203750830 58037715 BUSHMAN-chr19-43639759 3.71e-02 2010.03.09 2010.03.09 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38947920G>C;NG_008866.1:g.28581G>C;NM_000540.2:c.1792-217G>C;NM_001042723.1:c.1792-217G>C 228135586 58037715 pilot_1_YRI_9945269_chr19_43639760 3.71e-02 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38948034C>T;NG_008866.1:g.28695C>T;NM_000540.2:c.1792-103C>T;NM_001042723.1:c.1792-103C>T 228135587 114840566 pilot_1_YRI_9945270_chr19_43639874 1.69e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38948140C>G;NG_008866.1:g.28801C>G;NM_000540.2:c.1795C>G;NM_001042723.1:c.1795C>G;NP_000531.2:p.Leu599Val;NP_001036188.1:p.Leu599Val 465586633 190885369 20101123_snps_11753863_chr19_38948140 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948140C>G;NG_008866.1:g.28801C>G;NM_000540.2:c.1795C>G;NM_001042723.1:c.1795C>G;NP_000531.2:p.Leu599Val;NP_001036188.1:p.Leu599Val 491157926 190885369 20110521_exome_665724_chr19_38948140 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 MHVIENNA 6261 NM_000540.2:c.1834G>C NC_000019.9:g.38948179G>C;NG_008866.1:g.28840G>C;NM_000540.2:c.1834G>C;NM_001042723.1:c.1834G>C;NP_000531.2:p.Ala612Pro;NP_001036188.1:p.Ala612Pro 252841651 118204423 612 ala>pro germline probable-pathogenic 2010.08.12 2010.08.12 2010.08.12 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.1840C>T NC_000019.9:g.38948185C>T;NG_008866.1:g.28846C>T;NM_000540.2:c.1840C>T;NM_001042723.1:c.1840C>T;NP_000531.2:p.Arg614Cys;NP_001036188.1:p.Arg614Cys 252444741 118192172 CCORE_81 germline other 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG614CYS NC_000019.9:g.38948185C>T;NG_008866.1:g.28846C>T;NM_000540.2:c.1840C>T;NM_001042723.1:c.1840C>T;NP_000531.2:p.Arg614Cys;NP_001036188.1:p.Arg614Cys 275518428 118192172 5296 germline other 2010.12.08 2010.12.08 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1840C>T NC_000019.9:g.38948185C>T;NG_008866.1:g.28846C>T;NM_000540.2:c.1840C>T;NM_001042723.1:c.1840C>T;NP_000531.2:p.Arg614Cys;NP_001036188.1:p.Arg614Cys 475871477 118192172 RYR1_00001 germline other 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948185C>T;NG_008866.1:g.28846C>T;NM_000540.2:c.1840C>T;NM_001042723.1:c.1840C>T;NP_000531.2:p.Arg614Cys;NP_001036188.1:p.Arg614Cys 491766136 118192172 SNV-chr19-43640025 germline other 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1841G>T NC_000019.9:g.38948186G>T;NG_008866.1:g.28847G>T;NM_000540.2:c.1841G>T;NM_001042723.1:c.1841G>T;NP_000531.2:p.Arg614Leu;NP_001036188.1:p.Arg614Leu 475871478 193922772 RYR1_00153 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38948222C>G;NG_008866.1:g.28883C>G;NM_000540.2:c.1877C>G;NM_001042723.1:c.1877C>G;NP_000531.2:p.Pro626Arg;NP_001036188.1:p.Pro626Arg 342496389 140133838 ESP2500-chr19-38948222 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.1878T>G NC_000019.9:g.38948223T>G;NG_008866.1:g.28884T>G;NM_000540.2:c.1878T>G;NM_001042723.1:c.1878T>G;NP_000531.2:p.Pro626=;NP_001036188.1:p.Pro626= 475871479 193922773 RYR1_00006 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38948256C>A;NG_008866.1:g.28917C>A;NM_000540.2:c.1911C>A;NM_001042723.1:c.1911C>A;NP_000531.2:p.Ile637=;NP_001036188.1:p.Ile637= 342496390 150299276 ESP2500-chr19-38948256 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38948268C>G;NG_008866.1:g.28929C>G;NM_000540.2:c.1923C>G;NM_001042723.1:c.1923C>G;NP_000531.2:p.Thr641=;NP_001036188.1:p.Thr641= 228135588 116591968 pilot_1_YRI_9945271_chr19_43640108 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38948268C>G;NG_008866.1:g.28929C>G;NM_000540.2:c.1923C>G;NM_001042723.1:c.1923C>G;NP_000531.2:p.Thr641=;NP_001036188.1:p.Thr641= 342496391 116591968 ESP2500-chr19-38948268 2.70e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948268C>G;NG_008866.1:g.28929C>G;NM_000540.2:c.1923C>G;NM_001042723.1:c.1923C>G;NP_000531.2:p.Thr641=;NP_001036188.1:p.Thr641= 491157927 116591968 20110521_exome_665725_chr19_38948268 2.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38948298A>G;NG_008866.1:g.28959A>G;NM_000540.2:c.1925+28A>G;NM_001042723.1:c.1925+28A>G 203750831 112036954 BUSHMAN-chr19-43640137 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38948336C>G;NG_008866.1:g.28997C>G;NM_000540.2:c.1925+66C>G;NM_001042723.1:c.1925+66C>G 465586634 184001980 20101123_snps_11753864_chr19_38948336 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 2984580 2071085 IMS-JST006389 3.62e-01 unknown untested 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 3186168 2071085 SNP000571752 3.62e-01 unknown untested 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 10923912 2071085 chr19.NT_011109.15_11216574 3.62e-01 germline untested 2003.06.30 2004.04.07 2001.06.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 21529594 2071085 WGSA-200403-chr19.chr19.NT_011109.15_11216574 3.62e-01 germline untested 2004.03.20 2004.03.20 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 66047461 2071085 SNP_A-1812765 3.62e-01 germline untested 2006.10.27 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 66643121 2071085 HumanHap300v1.1_rs2071085 3.62e-01 germline untested 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 67222008 2071085 HumanHap550v1.1_rs2071085 3.62e-01 germline untested 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 67616442 2071085 HumanHap650Yv1.0_rs2071085 3.62e-01 germline untested 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 70700298 2071085 HumanHap550v3.0__rs2071085 3.62e-01 unknown untested 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 71266335 2071085 HumanHap650Yv3.0_rs2071085 3.62e-01 germline untested 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 75508903 2071085 ILMN_Human_1M_rs2071085 3.62e-01 unknown untested 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 75948486 2071085 AFFY_6_1M_SNP_A-1812765 3.62e-01 unknown untested 2007.08.29 2010.03.07 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 78073685 2071085 Cor12878_SNV_20070510.chr19_43640196 3.62e-01 germline untested 2007.10.17 2007.10.17 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 79112268 2071085 HumanHap300v2.0_rs2071085 3.62e-01 germline untested 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 81862776 2071085 Cor18956_SNV_20070510.chr19_43640196 3.62e-01 germline untested 2007.12.01 2007.12.01 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 83964401 2071085 KHS586131 3.62e-01 germline untested 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 90969837 2071085 JWB-1168166 3.62e-01 germline untested 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 96266957 2071085 1103691141773 3.62e-01 unknown untested 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 103437720 2071085 BGI_rs2071085 3.62e-01 germline untested 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 111365251 2071085 CEU.trio.12.15.2008_3616593_chr19_43640196 3.62e-01 germline untested 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 115120041 2071085 NA19240_2008_12_16_3257545_chr19_43640196 3.62e-01 germline untested 2008.12.19 2008.12.19 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 121908065 2071085 HumanCNV370v1_C_rs2071085 3.62e-01 unknown untested 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 136267588 2071085 ENSSNP1527873 3.62e-01 germline untested 2009.05.15 2009.10.15 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 137670258 2071085 ENSSNP11444290 3.62e-01 germline untested 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 153843447 2071085 Human610_Quadv1_B_rs2071085-128_T_R_1501707429 3.62e-01 germline untested 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 155887408 2071085 GMI_SNP_40671245 3.62e-01 germline untested 2009.06.24 2009.06.24 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 159355865 2071085 Human660W-Quad_v1_A_rs2071085-128_T_R_1501707429 3.62e-01 germline untested 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 168182751 2071085 NA07022_36_chr19_43640196 3.62e-01 unknown untested 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 169540525 2071085 GenomeWideSNP_5_SNP_A-1812765 3.62e-01 germline untested 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 169706258 2071085 NA19240_36_chr19_43640196 3.62e-01 germline untested 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 170997099 2071085 HumanCNV370-Quadv3_C_rs2071085-128_T_R_1501707429 3.62e-01 germline untested 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 171754145 2071085 NA20431_36_chr19_43640196 3.62e-01 unknown untested 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 173095681 2071085 Human1M-Duov3_B_rs2071085-128_T_R_1501707429 3.62e-01 germline untested 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 203750832 2071085 BUSHMAN-chr19-43640195 3.62e-01 unknown untested 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 208419609 2071085 BCM_CMT_1011-3097443 3.62e-01 germline untested 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 228135589 2071085 pilot_1_YRI_9945272_chr19_43640196 3.62e-01 germline untested 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 237674098 2071085 pilot_1_CEU_7278727_chr19_43640196 3.62e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 243880906 2071085 pilot_1_CHB+JPT_5765983_chr19_43640196 3.62e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 255668202 2071085 SNP49586_19_43640196 3.62e-01 germline untested 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 283205873 2071085 GMI_AK_SNP_7526294 3.62e-01 germline untested 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 292248466 2071085 SNP_1754824_chr19_43640196 3.62e-01 germline untested 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.1925+86T>C NC_000019.9:g.38948356T>C;NG_008866.1:g.29017T>C;NM_000540.2:c.1925+86T>C;NM_001042723.1:c.1925+86T>C 475871480 2071085 RYR1_00339 3.62e-01 germline untested 2011.11.25 2011.11.25 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948376A>G;NG_008866.1:g.29037A>G;NM_000540.2:c.1925+106A>G;NM_001042723.1:c.1925+106A>G 465586635 188842347 20101123_snps_11753865_chr19_38948376 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38948420C>G;NG_008866.1:g.29081C>G;NM_000540.2:c.1925+150C>G;NM_001042723.1:c.1925+150C>G 111365259 73044990 CEU.trio.12.15.2008_3616594_chr19_43640260 7.74e-02 2008.12.17 2008.12.17 2009.02.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38948420C>G;NG_008866.1:g.29081C>G;NM_000540.2:c.1925+150C>G;NM_001042723.1:c.1925+150C>G 237674099 73044990 pilot_1_CEU_7278728_chr19_43640260 7.74e-02 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38948517C>G;NG_008866.1:g.29178C>G;NM_000540.2:c.1926-174C>G;NM_001042723.1:c.1926-174C>G 203750833 113248409 BUSHMAN-chr19-43640356 2.52e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948517C>G;NG_008866.1:g.29178C>G;NM_000540.2:c.1926-174C>G;NM_001042723.1:c.1926-174C>G 228135590 113248409 pilot_1_YRI_9945273_chr19_43640357 2.52e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948580C>T;NG_008866.1:g.29241C>T;NM_000540.2:c.1926-111C>T;NM_001042723.1:c.1926-111C>T 340454361 139304046 20100804_snps_12097902_chr19_38948580 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38948651C>T;NG_008866.1:g.29312C>T;NM_000540.2:c.1926-40C>T;NM_001042723.1:c.1926-40C>T 489164374 200967816 20110521_exome_255581_chr19_38948651 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948656C>T;NG_008866.1:g.29317C>T;NM_000540.2:c.1926-35C>T;NM_001042723.1:c.1926-35C>T 489164377 200852098 20110521_exome_255582_chr19_38948656 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948657G>C;NG_008866.1:g.29318G>C;NM_000540.2:c.1926-34G>C;NM_001042723.1:c.1926-34G>C 489164379 200361717 20110521_exome_255583_chr19_38948657 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948721G>A;NG_008866.1:g.29382G>A;NM_000540.2:c.1956G>A;NM_001042723.1:c.1956G>A;NP_000531.2:p.Ala652=;NP_001036188.1:p.Ala652= 489164381 202105428 20110521_exome_255584_chr19_38948721 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 6628583 4802472 NT_011109.13_1103747 5.00e-04 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 161063689 4802472 HumanOmni1-Quad_v1-0_B_SNP19-43640572-0_T_R_1588131294 5.00e-04 2009.08.07 2009.10.05 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 243880907 4802472 pilot_1_CHB+JPT_5765984_chr19_43640572 5.00e-04 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 479286411 4802472 HumanOmni1-Quad_v1-0_C_kgp21508510-0_T_R_1844369298 5.00e-04 2012.01.30 2012.01.30 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 482348003 4802472 HumanOmni2.5-4v1_D_kgp21508510-0_T_R_1844369298 5.00e-04 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 483825895 4802472 HumanOmni2.5-4v1_B_SNP19-43640572-0_T_R_1635711205 5.00e-04 2012.02.03 2012.02.03 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948732C>T;NG_008866.1:g.29393C>T;NM_000540.2:c.1967C>T;NM_001042723.1:c.1967C>T;NP_000531.2:p.Thr656Met;NP_001036188.1:p.Thr656Met 491157928 4802472 20110521_exome_665726_chr19_38948732 5.00e-04 2012.02.22 2012.02.22 2003.02.20 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 159739618 78835441 RYR1-43640609 8.20e-03 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 243880908 78835441 pilot_1_CHB+JPT_5765985_chr19_43640609 8.20e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 283205874 78835441 GMI_AK_SNP_7526295 8.20e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 342496392 78835441 ESP2500-chr19-38948769 8.20e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 482351734 78835441 HumanOmni2.5-4v1_D_kgp21528263-0_B_F_1844408798 8.20e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 483825897 78835441 HumanOmni2.5-4v1_B_SNP19-43640609-0_B_F_1644398079 8.20e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 491157929 78835441 20110521_exome_665727_chr19_38948769 8.20e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38948769C>A;NC_000019.9:g.38948769C>T;NG_008866.1:g.29430C>A;NG_008866.1:g.29430C>T;NM_000540.2:c.2004C>A;NM_000540.2:c.2004C>T;NM_001042723.1:c.2004C>A;NM_001042723.1:c.2004C>T;NP_000531.2:p.Asp668=;NP_000531.2:p.Asp668Glu;NP_001036188.1:p.Asp668=;NP_001036188.1:p.Asp668Glu 491546423 78835441 nonsyn_262649_chr_19_38948769 8.20e-03 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38948830G>A;NG_008866.1:g.29491G>A;NM_000540.2:c.2065G>A;NM_001042723.1:c.2065G>A;NP_000531.2:p.Glu689Lys;NP_001036188.1:p.Glu689Lys 342496393 144845360 ESP2500-chr19-38948830 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38948856C>T;NG_008866.1:g.29517C>T;NM_000540.2:c.2091C>T;NM_001042723.1:c.2091C>T;NP_000531.2:p.Ala697=;NP_001036188.1:p.Ala697= 342496394 138704724 ESP2500-chr19-38948856 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948856C>T;NG_008866.1:g.29517C>T;NM_000540.2:c.2091C>T;NM_001042723.1:c.2091C>T;NP_000531.2:p.Ala697=;NP_001036188.1:p.Ala697= 491766137 138704724 SNV-chr19-43640696 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948859C>T;NG_008866.1:g.29520C>T;NM_000540.2:c.2094C>T;NM_001042723.1:c.2094C>T;NP_000531.2:p.Gly698=;NP_001036188.1:p.Gly698= 340454362 149942213 20100804_snps_12097903_chr19_38948859 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38948881G>A;NG_008866.1:g.29542G>A;NM_000540.2:c.2116G>A;NM_001042723.1:c.2116G>A;NP_000531.2:p.Val706Ile;NP_001036188.1:p.Val706Ile 342496395 141717554 ESP2500-chr19-38948881 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38948881G>A;NG_008866.1:g.29542G>A;NM_000540.2:c.2116G>A;NM_001042723.1:c.2116G>A;NP_000531.2:p.Val706Ile;NP_001036188.1:p.Val706Ile 491546424 141717554 nonsyn_262650_chr_19_38948881 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38948886C>A;NG_008866.1:g.29547C>A;NM_000540.2:c.2121C>A;NM_001042723.1:c.2121C>A;NP_000531.2:p.Gly707=;NP_001036188.1:p.Gly707= 342496396 146104858 ESP2500-chr19-38948886 2.30e-03 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948886C>A;NG_008866.1:g.29547C>A;NM_000540.2:c.2121C>A;NM_001042723.1:c.2121C>A;NP_000531.2:p.Gly707=;NP_001036188.1:p.Gly707= 465586636 146104858 20101123_snps_11753866_chr19_38948886 2.30e-03 unknown untested 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2121C>A NC_000019.9:g.38948886C>A;NG_008866.1:g.29547C>A;NM_000540.2:c.2121C>A;NM_001042723.1:c.2121C>A;NP_000531.2:p.Gly707=;NP_001036188.1:p.Gly707= 475871481 146104858 RYR1_00007 2.30e-03 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948886C>A;NG_008866.1:g.29547C>A;NM_000540.2:c.2121C>A;NM_001042723.1:c.2121C>A;NP_000531.2:p.Gly707=;NP_001036188.1:p.Gly707= 491157930 146104858 20110521_exome_665728_chr19_38948886 2.30e-03 germline untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948886C>A;NG_008866.1:g.29547C>A;NM_000540.2:c.2121C>A;NM_001042723.1:c.2121C>A;NP_000531.2:p.Gly707=;NP_001036188.1:p.Gly707= 491766138 146104858 SNV-chr19-43640726 2.30e-03 germline untested 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38948887G>A;NG_008866.1:g.29548G>A;NM_000540.2:c.2122G>A;NM_001042723.1:c.2122G>A;NP_000531.2:p.Asp708Asn;NP_001036188.1:p.Asp708Asn 342496397 138874610 ESP2500-chr19-38948887 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38948887G>A;NG_008866.1:g.29548G>A;NM_000540.2:c.2122G>A;NM_001042723.1:c.2122G>A;NP_000531.2:p.Asp708Asn;NP_001036188.1:p.Asp708Asn 491546425 138874610 nonsyn_262651_chr_19_38948887 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948887G>A;NG_008866.1:g.29548G>A;NM_000540.2:c.2122G>A;NM_001042723.1:c.2122G>A;NP_000531.2:p.Asp708Asn;NP_001036188.1:p.Asp708Asn 491766139 138874610 SNV-chr19-43640727 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948925C>G;NG_008866.1:g.29586C>G;NM_000540.2:c.2160C>G;NM_001042723.1:c.2160C>G;NP_000531.2:p.Leu720=;NP_001036188.1:p.Leu720= 491766140 200914778 SNV-chr19-43640765 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 2984581 2071086 IMS-JST006390 2.06e-01 unknown untested 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 HGBASE 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 3186169 2071086 SNP000571753 2.06e-01 unknown untested 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 103437721 2071086 BGI_rs2071086 2.06e-01 germline untested 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 171754152 2071086 NA20431_36_chr19_43640803 2.06e-01 germline untested 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 203750834 2071086 BUSHMAN-chr19-43640802 2.06e-01 germline untested 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 208517598 2071086 BCM_CMT_1011-3130477 2.06e-01 unknown untested 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 228135591 2071086 pilot_1_YRI_9945274_chr19_43640803 2.06e-01 unknown untested 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 237674100 2071086 pilot_1_CEU_7278729_chr19_43640803 2.06e-01 unknown untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 243880909 2071086 pilot_1_CHB+JPT_5765986_chr19_43640803 2.06e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 283205875 2071086 GMI_AK_SNP_7526296 2.06e-01 unknown untested 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2167+31C>G NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 475871482 2071086 RYR1_00340 2.06e-01 unknown untested 2011.11.25 2011.11.25 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 491157931 2071086 20110521_exome_665729_chr19_38948963 2.06e-01 germline untested 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38948963C>G;NG_008866.1:g.29624C>G;NM_000540.2:c.2167+31C>G;NM_001042723.1:c.2167+31C>G 491766141 2071086 SNV-chr19-43640803 2.06e-01 germline untested 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949102C>T;NG_008866.1:g.29763C>T;NM_000540.2:c.2167+170C>T;NM_001042723.1:c.2167+170C>T 115120049 73554237 NA19240_2008_12_16_3257546_chr19_43640942 4.60e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949102C>T;NG_008866.1:g.29763C>T;NM_000540.2:c.2167+170C>T;NM_001042723.1:c.2167+170C>T 169706275 73554237 NA19240_36_chr19_43640942 4.60e-03 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949102C>T;NG_008866.1:g.29763C>T;NM_000540.2:c.2167+170C>T;NM_001042723.1:c.2167+170C>T 340454363 73554237 20100804_snps_12097904_chr19_38949102 4.60e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949103G>A;NG_008866.1:g.29764G>A;NM_000540.2:c.2167+171G>A;NM_001042723.1:c.2167+171G>A 340454364 139986946 20100804_snps_12097905_chr19_38949103 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949219C>T;NG_008866.1:g.29880C>T;NM_000540.2:c.2167+287C>T;NM_001042723.1:c.2167+287C>T 340454365 143507261 20100804_snps_12097906_chr19_38949219 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949232_38949233insATTTATTT;NG_008866.1:g.29893_29894insATTTATTT;NM_000540.2:c.2167+300_2167+301insATTTATTT;NM_001042723.1:c.2167+300_2167+301insATTTATTT 327903748 149336562 JPTCHB_chr19_43641072_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949232_38949233insATTTATTT;NG_008866.1:g.29893_29894insATTTATTT;NM_000540.2:c.2167+300_2167+301insATTTATTT;NM_001042723.1:c.2167+300_2167+301insATTTATTT 328032183 149336562 CEU_chr19_43641072_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949232_38949233insATTTATTT;NG_008866.1:g.29893_29894insATTTATTT;NM_000540.2:c.2167+300_2167+301insATTTATTT;NM_001042723.1:c.2167+300_2167+301insATTTATTT 328276223 149336562 YRI_chr19_43641072_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38949234_38949235insTTTA;NG_008866.1:g.29895_29896insTTTA;NM_000540.2:c.2167+302_2167+303insTTTA;NM_001042723.1:c.2167+302_2167+303insTTTA 101577335 72217587 INDEL_GP36_2008a_1781230_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949235_38949236insTTAT;NG_008866.1:g.29896_29897insTTAT;NM_000540.2:c.2167+303_2167+304insTTAT;NM_001042723.1:c.2167+303_2167+304insTTAT 102608006 72493270 INDEL_GP36_2008a_993918_0 2008.05.18 2008.05.18 2009.02.14 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949236_38949237insTATT;NG_008866.1:g.29897_29898insTATT;NM_000540.2:c.2167+304_2167+305insTATT;NM_001042723.1:c.2167+304_2167+305insTATT 101306074 72152696 INDEL_GP36_2008a_1573864_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949251delT;NC_000019.9:g.38949251delTinsTTTG;NG_008866.1:g.29912delT;NG_008866.1:g.29912delTinsTTTG;NM_000540.2:c.2167+319delT;NM_000540.2:c.2167+319delTinsTTTG;NM_001042723.1:c.2167+319delT;NM_001042723.1:c.2167+319delTinsTTTG 15032514 10607676 INDEL_GP34_WGS_117610 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949251delT;NC_000019.9:g.38949251delTinsTTTG;NG_008866.1:g.29912delT;NG_008866.1:g.29912delTinsTTTG;NM_000540.2:c.2167+319delT;NM_000540.2:c.2167+319delTinsTTTG;NM_001042723.1:c.2167+319delT;NM_001042723.1:c.2167+319delTinsTTTG 100500250 10607676 INDEL_GP36_2008a_1532223_0 2008.05.16 2008.05.16 2003.12.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949251delT;NC_000019.9:g.38949251delTinsTTTG;NG_008866.1:g.29912delT;NG_008866.1:g.29912delTinsTTTG;NM_000540.2:c.2167+319delT;NM_000540.2:c.2167+319delTinsTTTG;NM_001042723.1:c.2167+319delT;NM_001042723.1:c.2167+319delTinsTTTG 100500253 10607676 INDEL_GP36_2008a_1532223_1 2008.05.16 2008.05.16 2003.12.05 2011.07.08 137 GMI 6261 NC_000019.9:g.38949251_38949258delTTTGTTTG;NG_008866.1:g.29912_29919delTTTGTTTG;NM_000540.2:c.2167+319_2167+326delTTTGTTTG;NM_001042723.1:c.2167+319_2167+326delTTTGTTTG 289387890 201257740 GMI_AK_INDEL_1065347 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 DEVINE_LAB 6261 NC_000019.9:g.38949252_38949253insATTTA;NG_008866.1:g.29913_29914insATTTA;NM_000540.2:c.2167+320_2167+321insATTTA;NM_001042723.1:c.2167+320_2167+321insATTTA 15128189 10691720 INDEL_GP34_WGS_222569 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949252delT;NC_000019.9:g.38949252delTinsTTGT;NG_008866.1:g.29913delT;NG_008866.1:g.29913delTinsTTGT;NM_000540.2:c.2167+320delT;NM_000540.2:c.2167+320delTinsTTGT;NM_001042723.1:c.2167+320delT;NM_001042723.1:c.2167+320delTinsTTGT 101532005 66489803 INDEL_GP36_2008a_1401910_0 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949252delT;NC_000019.9:g.38949252delTinsTTGT;NG_008866.1:g.29913delT;NG_008866.1:g.29913delTinsTTGT;NM_000540.2:c.2167+320delT;NM_000540.2:c.2167+320delTinsTTGT;NM_001042723.1:c.2167+320delT;NM_001042723.1:c.2167+320delTinsTTGT 101532007 66489803 INDEL_GP36_2008a_1401910_1 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949252delT;NC_000019.9:g.38949252delTinsTTGT;NG_008866.1:g.29913delT;NG_008866.1:g.29913delTinsTTGT;NM_000540.2:c.2167+320delT;NM_000540.2:c.2167+320delTinsTTGT;NM_001042723.1:c.2167+320delT;NM_001042723.1:c.2167+320delTinsTTGT 101532010 66489803 INDEL_GP36_2008a_1401910_2 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949252delT;NC_000019.9:g.38949252delTinsTTGT;NG_008866.1:g.29913delT;NG_008866.1:g.29913delTinsTTGT;NM_000540.2:c.2167+320delT;NM_000540.2:c.2167+320delTinsTTGT;NM_001042723.1:c.2167+320delT;NM_001042723.1:c.2167+320delTinsTTGT 101532012 66489803 INDEL_GP36_2008a_1401910_3 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 90969840 62118989 JWB-2965857 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949253delTinsAT;NC_000019.9:g.38949253delTinsTG;NG_008866.1:g.29914delTinsAT;NG_008866.1:g.29914delTinsTG;NM_000540.2:c.2167+321delTinsAT;NM_000540.2:c.2167+321delTinsTG;NM_001042723.1:c.2167+321delTinsAT;NM_001042723.1:c.2167+321delTinsTG 95217621 66496685 1103691141774 2008.03.21 2008.03.21 2009.02.03 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 99350364 67645619 INDEL_GP36_2007a_534305_0 2008.05.05 2008.05.05 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454938 67645619 INDEL_GP36_2008a_534305_1 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454941 67645619 INDEL_GP36_2008a_534305_2 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454942 67645619 INDEL_GP36_2008a_534305_3 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454947 67645619 INDEL_GP36_2008a_534305_4 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454950 67645619 INDEL_GP36_2008a_534305_5 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100454952 67645619 INDEL_GP36_2008a_534305_6 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100915548 67645619 INDEL_GP36_2008a_993919_0 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100915549 67645619 INDEL_GP36_2008a_993919_1 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949253_38949254insA;NC_000019.9:g.38949253_38949254insATTTA;NG_008866.1:g.29914_29915insA;NG_008866.1:g.29914_29915insATTTA;NM_000540.2:c.2167+321_2167+322insA;NM_000540.2:c.2167+321_2167+322insATTTA;NM_001042723.1:c.2167+321_2167+322insA;NM_001042723.1:c.2167+321_2167+322insATTTA 100915551 67645619 INDEL_GP36_2008a_993919_2 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 ENSEMBL 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 132762385 62118989 ENSSNP1527874 2009.05.12 2009.10.15 2008.03.24 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 137670261 62118989 ENSSNP11444291 2009.05.16 2009.05.16 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 155887415 62118989 GMI_SNP_367101849 2009.06.24 2009.06.24 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 255668209 62118989 SNP49587_19_43641093 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949253T>A;NG_008866.1:g.29914T>A;NM_000540.2:c.2167+321T>A;NM_001042723.1:c.2167+321T>A 283205876 62118989 GMI_AK_SNP_7526297 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 15156314 10717462 INDEL_GP34_WGS_256107 2003.11.13 2003.11.22 2003.12.05 2012.05.16 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 90969844 62703960 JWB-1168167 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38949254_38949257delGTTT;NG_008866.1:g.29915_29918delGTTT;NM_000540.2:c.2167+322_2167+325delGTTT;NM_001042723.1:c.2167+322_2167+325delGTTT 99481615 71693305 INDEL_GP36_2007a_534307_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 99862984 10717462 INDEL_GP36_2007a_534306_0 2008.05.06 2008.05.06 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100478789 10717462 INDEL_GP36_2008a_993920_0 2008.05.16 2008.05.16 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100478790 10717462 INDEL_GP36_2008a_993920_1 2008.05.16 2008.05.16 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100478793 10717462 INDEL_GP36_2008a_993920_2 2008.05.16 2008.05.16 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776165 10717462 INDEL_GP36_2008a_534306_1 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776168 10717462 INDEL_GP36_2008a_534306_2 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776171 10717462 INDEL_GP36_2008a_534306_3 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776173 10717462 INDEL_GP36_2008a_534306_4 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776175 10717462 INDEL_GP36_2008a_534306_5 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38949254delG;NC_000019.9:g.38949254delGinsGTTTG;NG_008866.1:g.29915delG;NG_008866.1:g.29915delGinsGTTTG;NM_000540.2:c.2167+322delG;NM_000540.2:c.2167+322delGinsGTTTG;NM_001042723.1:c.2167+322delG;NM_001042723.1:c.2167+322delGinsGTTTG 100776178 10717462 INDEL_GP36_2008a_534306_6 2008.05.17 2008.05.17 2003.12.05 2012.05.16 137 ENSEMBL 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 132762390 62703960 ENSSNP1527875 2009.05.12 2009.10.15 2008.03.24 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 137670264 62703960 ENSSNP11444292 2009.05.16 2009.05.16 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 155887421 62703960 GMI_SNP_367866951 2009.06.24 2009.06.24 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 255668213 62703960 SNP49588_19_43641094 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949254G>T;NG_008866.1:g.29915G>T;NM_000540.2:c.2167+322G>T;NM_001042723.1:c.2167+322G>T 283205877 62703960 GMI_AK_SNP_7526298 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 ABI 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 40961142 34123361 hCV32823836 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 90969846 34123361 JWB-1168168 2008.03.01 2008.03.01 2006.03.13 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 137670268 34123361 ENSSNP11444293 2009.05.16 2009.05.16 2006.03.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 155887429 34123361 GMI_SNP_368315521 2009.06.24 2009.06.24 2006.03.13 2012.11.28 137 BL 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 255668218 34123361 SNP49589_19_43641097 2010.08.20 2010.08.20 2006.03.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38949257T>A;NC_000019.9:g.38949257T>G;NG_008866.1:g.29918T>A;NG_008866.1:g.29918T>G;NM_000540.2:c.2167+325T>A;NM_000540.2:c.2167+325T>G;NM_001042723.1:c.2167+325T>A;NM_001042723.1:c.2167+325T>G 283205878 34123361 GMI_AK_SNP_7526299 2010.12.16 2010.12.16 2006.03.13 2012.11.28 137 ABI 6261 NC_000019.9:g.38949258G>T;NC_000019.9:g.38949258delG;NG_008866.1:g.29919G>T;NG_008866.1:g.29919delG;NM_000540.2:c.2167+326G>T;NM_000540.2:c.2167+326delG;NM_001042723.1:c.2167+326G>T;NM_001042723.1:c.2167+326delG 41024235 34826142 hCV26218815 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949258G>T;NG_008866.1:g.29919G>T;NM_000540.2:c.2167+326G>T;NM_001042723.1:c.2167+326G>T 90969848 62118990 JWB-1168169 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949258delGinsAT;NC_000019.9:g.38949258delGinsTG;NG_008866.1:g.29919delGinsAT;NG_008866.1:g.29919delGinsTG;NM_000540.2:c.2167+326delGinsAT;NM_000540.2:c.2167+326delGinsTG;NM_001042723.1:c.2167+326delGinsAT;NM_001042723.1:c.2167+326delGinsTG 95217622 67848606 1103691141775 2008.03.21 2008.03.21 2009.02.06 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.38949258G>T;NG_008866.1:g.29919G>T;NM_000540.2:c.2167+326G>T;NM_001042723.1:c.2167+326G>T 137670271 62118990 ENSSNP11444294 2009.05.16 2009.05.16 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949258G>T;NG_008866.1:g.29919G>T;NM_000540.2:c.2167+326G>T;NM_001042723.1:c.2167+326G>T 155887434 62118990 GMI_SNP_367248740 2009.06.24 2009.06.24 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38949258G>T;NG_008866.1:g.29919G>T;NM_000540.2:c.2167+326G>T;NM_001042723.1:c.2167+326G>T 255668224 62118990 SNP49590_19_43641098 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38949258G>T;NG_008866.1:g.29919G>T;NM_000540.2:c.2167+326G>T;NM_001042723.1:c.2167+326G>T 283205879 62118990 GMI_AK_SNP_7526300 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949346C>T;NG_008866.1:g.30007C>T;NM_000540.2:c.2167+414C>T;NM_001042723.1:c.2167+414C>T 340454366 146746488 20100804_snps_12097907_chr19_38949346 1.97e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949393T>C;NG_008866.1:g.30054T>C;NM_000540.2:c.2168-393T>C;NM_001042723.1:c.2168-393T>C 340454367 140240735 20100804_snps_12097908_chr19_38949393 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 10929989 7252208 chr19.NT_011109.15_11217632 4.00e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 16791282 7252208 CSHL-HuAA-200402.chr19.NT_011109.15_11217632 4.00e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 21552900 7252208 WGSA-200403-chr19.chr19.NT_011109.15_11217632 4.00e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 40968236 7252208 hCV7821759 4.00e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 82361073 7252208 Cor18555_SNV_20070510.chr19_43641254 4.00e-01 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 82676718 7252208 Cor18956_SNV_20070510.chr19_43641254 4.00e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 90969851 7252208 JWB-1168170 4.00e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 96266958 7252208 1103691141776 4.00e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 136267585 7252208 ENSSNP1527876 4.00e-01 2009.05.15 2010.03.07 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 137670274 7252208 ENSSNP6880685 4.00e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 168182764 7252208 NA07022_36_chr19_43641254 4.00e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 169706290 7252208 NA19240_36_chr19_43641254 4.00e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 171754156 7252208 NA20431_36_chr19_43641254 4.00e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 203750835 7252208 BUSHMAN-chr19-43641253 4.00e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 255668227 7252208 SNP49591_19_43641254 4.00e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 283205880 7252208 GMI_AK_SNP_7526301 4.00e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 292248467 7252208 SNP_1754825_chr19_43641254 4.00e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949414A>G;NG_008866.1:g.30075A>G;NM_000540.2:c.2168-372A>G;NM_001042723.1:c.2168-372A>G 340454368 7252208 20100804_snps_12097909_chr19_38949414 4.00e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 10930401 7252456 chr19.NT_011109.15_11217723 2003.06.30 2003.11.10 2003.07.11 2013.01.17 137 CSHL-HAPMAP 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 16791486 7252456 CSHL-HuAA-200402.chr19.NT_011109.15_11217723 2004.02.18 2004.03.04 2003.07.11 2013.01.17 137 SSAHASNP 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 21554561 7252456 WGSA-200403-chr19.chr19.NT_011109.15_11217723 2004.03.20 2004.03.20 2003.07.11 2013.01.17 137 HGSV 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 83880925 7252456 Cor18956_SNV_20070510.chr19_43641345 2007.12.06 2007.12.06 2003.07.11 2013.01.17 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 90969853 7252456 JWB-1168171 2008.03.01 2008.03.01 2003.07.11 2013.01.17 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 96266959 7252456 1103691141777 2008.03.26 2008.03.26 2003.07.11 2013.01.17 137 BGI 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 103437722 7252456 BGI_rs7252456 2008.06.06 2009.06.17 2003.07.11 2013.01.17 137 ENSEMBL 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 136267581 7252456 ENSSNP1527877 2009.05.15 2009.10.15 2003.07.11 2013.01.17 137 ENSEMBL 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 137670277 7252456 ENSSNP7087239 2009.05.16 2009.05.16 2003.07.11 2013.01.17 137 GMI 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 155887441 7252456 GMI_SNP_74276512 2009.06.24 2009.06.24 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 168182778 7252456 NA07022_36_chr19_43641345 2009.09.30 2009.09.30 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 169706311 7252456 NA19240_36_chr19_43641345 2009.10.01 2009.10.01 2003.07.11 2013.01.17 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 171754164 7252456 NA20431_36_chr19_43641345 2009.10.01 2009.10.01 2003.07.11 2013.01.17 137 BUSHMAN 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 203750836 7252456 BUSHMAN-chr19-43641344 2010.03.09 2010.03.09 2003.07.11 2013.01.17 137 GMI 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 283205881 7252456 GMI_AK_SNP_7526302 2010.12.16 2010.12.16 2003.07.11 2013.01.17 137 PJP 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 292248468 7252456 SNP_1754826_chr19_43641345 2011.01.21 2011.01.21 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38949505C>T;NG_008866.1:g.30166C>T;NM_000540.2:c.2168-281C>T;NM_001042723.1:c.2168-281C>T 340454369 7252456 20100804_snps_12097910_chr19_38949505 2011.03.22 2011.03.22 2003.07.11 2013.01.17 137 1000GENOMES 6261 NC_000019.9:g.38949534C>T;NG_008866.1:g.30195C>T;NM_000540.2:c.2168-252C>T;NM_001042723.1:c.2168-252C>T 465586637 182896653 20101123_snps_11753867_chr19_38949534 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38949558C>T;NG_008866.1:g.30219C>T;NM_000540.2:c.2168-228C>T;NM_001042723.1:c.2168-228C>T 340454370 140768130 20100804_snps_12097911_chr19_38949558 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38949591C>T;NG_008866.1:g.30252C>T;NM_000540.2:c.2168-195C>T;NM_001042723.1:c.2168-195C>T 203750837 74771916 BUSHMAN-chr19-43641430 2.43e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949591C>T;NG_008866.1:g.30252C>T;NM_000540.2:c.2168-195C>T;NM_001042723.1:c.2168-195C>T 228135592 74771916 pilot_1_YRI_9945275_chr19_43641431 2.43e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949636A>G;NG_008866.1:g.30297A>G;NM_000540.2:c.2168-150A>G;NM_001042723.1:c.2168-150A>G 465586638 186870322 20101123_snps_11753868_chr19_38949636 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38949661C>A;NG_008866.1:g.30322C>A;NM_000540.2:c.2168-125C>A;NM_001042723.1:c.2168-125C>A 340454371 150462947 20100804_snps_12097912_chr19_38949661 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38949701G>T;NG_008866.1:g.30362G>T;NM_000540.2:c.2168-85G>T;NM_001042723.1:c.2168-85G>T 340454372 138489049 20100804_snps_12097913_chr19_38949701 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 6628586 4802474 NT_011109.13_1104744 3.81e-01 germline untested 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 14711952 4802474 chr19.NT_011109.15_11217947 3.81e-01 germline untested 2003.11.10 2006.10.25 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 19406245 4802474 CSHL-HuDD-200402.chr19.NT_011109.15_11217947 3.81e-01 germline untested 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 21510952 4802474 WGSA-200403-chr19.chr19.NT_011109.15_11217947 3.81e-01 germline untested 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 23763092 4802474 afd3509136 3.81e-01 unknown untested 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 44156238 4802474 hCV22273926 3.81e-01 unknown untested 2005.07.18 2005.07.18 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 65760617 4802474 Human1-rs4802474 3.81e-01 germline untested 2006.10.10 2006.10.10 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 66095031 4802474 SNP_A-1958363 3.81e-01 unknown untested 2006.10.27 2008.03.31 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 69228158 4802474 PGP03509136 3.81e-01 germline untested 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 69378711 4802474 NT_011109.15_11217947 3.81e-01 unknown untested 2007.04.12 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 74894893 4802474 ILMN_Human_1M_rs4802474 3.81e-01 unknown untested 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 76054190 4802474 AFFY_6_1M_SNP_A-1958363 3.81e-01 germline untested 2007.08.29 2010.03.07 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 82129037 4802474 KHS193404 3.81e-01 unknown untested 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 85613601 4802474 Cor18517_SNV_20070510.chr19_43641569 3.81e-01 unknown untested 2007.12.09 2007.12.09 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 90969855 4802474 JWB-1168172 3.81e-01 unknown untested 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 96266960 4802474 1103691141778 3.81e-01 germline untested 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 103437723 4802474 BGI_rs4802474 3.81e-01 germline untested 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 111365275 4802474 CEU.trio.12.15.2008_3616596_chr19_43641569 3.81e-01 germline untested 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 115120069 4802474 NA19240_2008_12_16_3257549_chr19_43641569 3.81e-01 unknown untested 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 136267579 4802474 ENSSNP1527878 3.81e-01 unknown untested 2009.05.15 2010.03.07 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 137670280 4802474 ENSSNP6172786 3.81e-01 germline untested 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 155887448 4802474 GMI_SNP_74128088 3.81e-01 germline untested 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 168182788 4802474 NA07022_36_chr19_43641569 3.81e-01 unknown untested 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 169706328 4802474 NA19240_36_chr19_43641569 3.81e-01 germline untested 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 171754171 4802474 NA20431_36_chr19_43641569 3.81e-01 germline untested 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 172336818 4802474 GenomeWideSNP_5_SNP_A-1958363 3.81e-01 germline untested 2009.10.02 2009.10.02 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 173821095 4802474 Human1M-Duov3_B_rs4802474-128_B_F_1513942264 3.81e-01 unknown untested 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 203750838 4802474 BUSHMAN-chr19-43641568 3.81e-01 unknown untested 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 228135593 4802474 pilot_1_YRI_9945276_chr19_43641569 3.81e-01 germline untested 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 237674103 4802474 pilot_1_CEU_7278732_chr19_43641569 3.81e-01 unknown untested 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 243880910 4802474 pilot_1_CHB+JPT_5765987_chr19_43641569 3.81e-01 unknown untested 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 283205882 4802474 GMI_AK_SNP_7526303 3.81e-01 unknown untested 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 292248469 4802474 SNP_1754827_chr19_43641569 3.81e-01 germline untested 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2168-57T>G NC_000019.9:g.38949729T>G;NG_008866.1:g.30390T>G;NM_000540.2:c.2168-57T>G;NM_001042723.1:c.2168-57T>G 475871483 4802474 RYR1_00341 3.81e-01 germline untested 2011.11.25 2011.11.25 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38949756C>T;NG_008866.1:g.30417C>T;NM_000540.2:c.2168-30C>T;NM_001042723.1:c.2168-30C>T 117702490 73930586 NA18507_000043839_NCBI36.1_chr19_43641596 1.28e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949756C>T;NG_008866.1:g.30417C>T;NM_000540.2:c.2168-30C>T;NM_001042723.1:c.2168-30C>T 228135594 73930586 pilot_1_YRI_9945277_chr19_43641596 1.28e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949756C>T;NG_008866.1:g.30417C>T;NM_000540.2:c.2168-30C>T;NM_001042723.1:c.2168-30C>T 491157932 73930586 20110521_exome_665730_chr19_38949756 1.28e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949781T>C;NG_008866.1:g.30442T>C;NM_000540.2:c.2168-5T>C;NM_001042723.1:c.2168-5T>C 489164383 201322611 20110521_exome_255585_chr19_38949781 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949791G>A;NG_008866.1:g.30452G>A;NM_000540.2:c.2173G>A;NM_001042723.1:c.2173G>A;NP_000531.2:p.Val725Met;NP_001036188.1:p.Val725Met 489164385 200698933 20110521_exome_255586_chr19_38949791 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38949791G>A;NG_008866.1:g.30452G>A;NM_000540.2:c.2173G>A;NM_001042723.1:c.2173G>A;NP_000531.2:p.Val725Met;NP_001036188.1:p.Val725Met 491766142 200698933 SNV-chr19-43641631 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38949813C>T;NG_008866.1:g.30474C>T;NM_000540.2:c.2195C>T;NM_001042723.1:c.2195C>T;NP_000531.2:p.Pro732Leu;NP_001036188.1:p.Pro732Leu 342496398 141444525 ESP2500-chr19-38949813 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38949841C>T;NG_008866.1:g.30502C>T;NM_000540.2:c.2223C>T;NM_001042723.1:c.2223C>T;NP_000531.2:p.Asp741=;NP_001036188.1:p.Asp741= 342496399 150831055 ESP2500-chr19-38949841 1.80e-03 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949841C>T;NG_008866.1:g.30502C>T;NM_000540.2:c.2223C>T;NM_001042723.1:c.2223C>T;NP_000531.2:p.Asp741=;NP_001036188.1:p.Asp741= 465586639 150831055 20101123_snps_11753869_chr19_38949841 1.80e-03 unknown untested 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2223C>T NC_000019.9:g.38949841C>T;NG_008866.1:g.30502C>T;NM_000540.2:c.2223C>T;NM_001042723.1:c.2223C>T;NP_000531.2:p.Asp741=;NP_001036188.1:p.Asp741= 475871484 150831055 RYR1_00306 1.80e-03 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949841C>T;NG_008866.1:g.30502C>T;NM_000540.2:c.2223C>T;NM_001042723.1:c.2223C>T;NP_000531.2:p.Asp741=;NP_001036188.1:p.Asp741= 491157933 150831055 20110521_exome_665731_chr19_38949841 1.80e-03 germline untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38949859G>A;NG_008866.1:g.30520G>A;NM_000540.2:c.2241G>A;NM_001042723.1:c.2241G>A;NP_000531.2:p.Leu747=;NP_001036188.1:p.Leu747= 48401734 34097444 hCV25630470 4.10e-03 2005.11.30 2006.11.03 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949859G>A;NG_008866.1:g.30520G>A;NM_000540.2:c.2241G>A;NM_001042723.1:c.2241G>A;NP_000531.2:p.Leu747=;NP_001036188.1:p.Leu747= 340454373 34097444 20100804_snps_12097914_chr19_38949859 4.10e-03 2011.03.22 2011.03.22 2006.03.13 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38949859G>A;NG_008866.1:g.30520G>A;NM_000540.2:c.2241G>A;NM_001042723.1:c.2241G>A;NP_000531.2:p.Leu747=;NP_001036188.1:p.Leu747= 342496400 34097444 ESP2500-chr19-38949859 4.10e-03 2011.03.27 2011.03.27 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949859G>A;NG_008866.1:g.30520G>A;NM_000540.2:c.2241G>A;NM_001042723.1:c.2241G>A;NP_000531.2:p.Leu747=;NP_001036188.1:p.Leu747= 491157934 34097444 20110521_exome_665732_chr19_38949859 4.10e-03 2012.02.22 2012.02.22 2006.03.13 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38949866A>G;NG_008866.1:g.30527A>G;NM_000540.2:c.2248A>G;NM_001042723.1:c.2248A>G;NP_000531.2:p.Ser750Gly;NP_001036188.1:p.Ser750Gly 203750839 111408211 BUSHMAN-chr19-43641705 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 CLINSEQ_SNP 6261 NC_000019.9:g.38949873C>T;NG_008866.1:g.30534C>T;NM_000540.2:c.2255C>T;NM_001042723.1:c.2255C>T;NP_000531.2:p.Pro752Leu;NP_001036188.1:p.Pro752Leu 491766143 201229451 SNV-chr19-43641713 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38949874G>A;NG_008866.1:g.30535G>A;NM_000540.2:c.2256G>A;NM_001042723.1:c.2256G>A;NP_000531.2:p.Pro752=;NP_001036188.1:p.Pro752= 342496401 149649489 ESP2500-chr19-38949874 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38949893A>G;NG_008866.1:g.30554A>G;NM_000540.2:c.2275A>G;NM_001042723.1:c.2275A>G;NP_000531.2:p.Asn759Asp;NP_001036188.1:p.Asn759Asp 342496402 147320363 ESP2500-chr19-38949893 1.40e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949893A>G;NG_008866.1:g.30554A>G;NM_000540.2:c.2275A>G;NM_001042723.1:c.2275A>G;NP_000531.2:p.Asn759Asp;NP_001036188.1:p.Asn759Asp 489164388 147320363 20110521_exome_255587_chr19_38949893 1.40e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38949893A>G;NG_008866.1:g.30554A>G;NM_000540.2:c.2275A>G;NM_001042723.1:c.2275A>G;NP_000531.2:p.Asn759Asp;NP_001036188.1:p.Asn759Asp 491546426 147320363 nonsyn_262652_chr_19_38949893 1.40e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 4931867 3745847 IMS-JST097345 3.81e-01 unknown untested 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 12466900 3745847 chr19.NT_011109.15_11218122 3.81e-01 germline untested 2003.07.04 2003.10.10 2002.08.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 14718102 3745847 chr19.NT_011109.15_11218122 3.81e-01 unknown untested 2003.11.10 2003.11.22 2002.08.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 19399978 3745847 CSHL-HuDD-200402.chr19.NT_011109.15_11218122 3.81e-01 germline untested 2004.02.21 2004.03.04 2002.08.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 21526507 3745847 WGSA-200403-chr19.chr19.NT_011109.15_11218122 3.81e-01 germline untested 2004.03.20 2004.03.20 2002.08.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 23763094 3745847 afd4231004 3.81e-01 unknown untested 2004.08.20 2004.09.13 2002.08.28 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 48401735 3745847 hCV22275419 3.81e-01 unknown untested 2005.11.30 2006.11.03 2002.08.28 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 69378712 3745847 NT_011109.15_11218122 3.81e-01 germline untested 2007.04.12 2007.04.12 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 75165964 3745847 ILMN_Human_1M_rs3745847 3.81e-01 unknown untested 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 86204304 3745847 Cor18517_SNV_20070510.chr19_43641744 3.81e-01 germline untested 2007.12.11 2007.12.11 2002.08.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 90969857 3745847 JWB-1168173 3.81e-01 germline untested 2008.03.01 2008.03.01 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 96266961 3745847 1103691141779 3.81e-01 germline untested 2008.03.26 2008.03.26 2002.08.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 103437724 3745847 BGI_rs3745847 3.81e-01 germline untested 2008.06.06 2009.06.17 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 111365283 3745847 CEU.trio.12.15.2008_3616597_chr19_43641744 3.81e-01 unknown untested 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 115120074 3745847 NA19240_2008_12_16_3257550_chr19_43641744 3.81e-01 germline untested 2008.12.19 2008.12.19 2002.08.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 119459084 3745847 KHS1621331 3.81e-01 germline untested 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 136267575 3745847 ENSSNP1527879 3.81e-01 germline untested 2009.05.15 2009.10.15 2002.08.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 137670282 3745847 ENSSNP6088764 3.81e-01 germline untested 2009.05.16 2009.05.16 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 155887454 3745847 GMI_SNP_135396376 3.81e-01 germline untested 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 159739619 3745847 RYR1-43641744 3.81e-01 unknown untested 2009.07.10 2009.07.10 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 160635333 3745847 HumanOmni1-Quad_v1-0_B_rs3745847-128_T_R_1514139966 3.81e-01 unknown untested 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 168182798 3745847 NA07022_36_chr19_43641744 3.81e-01 unknown untested 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 169706342 3745847 NA19240_36_chr19_43641744 3.81e-01 germline untested 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 171754181 3745847 NA20431_36_chr19_43641744 3.81e-01 unknown untested 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 173620761 3745847 Human1M-Duov3_B_rs3745847-128_T_R_1514139966 3.81e-01 germline untested 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 203750840 3745847 BUSHMAN-chr19-43641743 3.81e-01 germline untested 2010.03.09 2010.03.09 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 208515263 3745847 BCM_CMT_1011-3129681 3.81e-01 germline untested 2010.03.19 2010.03.19 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 228135595 3745847 pilot_1_YRI_9945278_chr19_43641744 3.81e-01 unknown untested 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 237674104 3745847 pilot_1_CEU_7278733_chr19_43641744 3.81e-01 unknown untested 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 243880911 3745847 pilot_1_CHB+JPT_5765988_chr19_43641744 3.81e-01 germline untested 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 255668233 3745847 SNP49592_19_43641744 3.81e-01 unknown untested 2010.08.20 2010.08.20 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 283205883 3745847 GMI_AK_SNP_7526304 3.81e-01 unknown untested 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 292248470 3745847 SNP_1754828_chr19_43641744 3.81e-01 germline untested 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 342496403 3745847 ESP2500-chr19-38949904 3.81e-01 unknown untested 2011.03.27 2011.03.27 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2286C>T NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 475871485 3745847 RYR1_00045 3.81e-01 unknown untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 480811940 3745847 HumanOmni2.5-4v1_B_rs3745847-128_T_R_1782925029 3.81e-01 germline untested 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 480827554 3745847 HumanOmniExpress-12v1_C_rs3745847-131_T_R_1857473183 3.81e-01 unknown untested 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 481756147 3745847 HumanOmni1-Quad_v1-0_C_rs3745847-131_T_R_1857473183 3.81e-01 germline untested 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 485200759 3745847 HumanOmni2.5-4v1_D_rs3745847-131_T_R_1857473183 3.81e-01 germline untested 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 491157935 3745847 20110521_exome_665733_chr19_38949904 3.81e-01 germline untested 2012.02.22 2012.02.22 2002.08.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38949904C>T;NG_008866.1:g.30565C>T;NM_000540.2:c.2286C>T;NM_001042723.1:c.2286C>T;NP_000531.2:p.Pro762=;NP_001036188.1:p.Pro762= 491766144 3745847 SNV-chr19-43641744 3.81e-01 germline untested 2012.03.07 2012.03.13 2002.08.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38949930A>G;NG_008866.1:g.30591A>G;NM_000540.2:c.2312A>G;NM_001042723.1:c.2312A>G;NP_000531.2:p.Asn771Ser;NP_001036188.1:p.Asn771Ser 342496404 144811553 ESP2500-chr19-38949930 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38949938G>A;NG_008866.1:g.30599G>A;NM_000540.2:c.2320G>A;NM_001042723.1:c.2320G>A;NP_000531.2:p.Gly774Arg;NP_001036188.1:p.Gly774Arg 342496405 147918857 ESP2500-chr19-38949938 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38949938G>A;NG_008866.1:g.30599G>A;NM_000540.2:c.2320G>A;NM_001042723.1:c.2320G>A;NP_000531.2:p.Gly774Arg;NP_001036188.1:p.Gly774Arg 491546427 147918857 nonsyn_262653_chr_19_38949938 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950089A>G;NG_008866.1:g.30750A>G;NM_000540.2:c.2360+111A>G;NM_001042723.1:c.2360+111A>G 228135596 115461795 pilot_1_YRI_9945279_chr19_43641929 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38950089A>G;NG_008866.1:g.30750A>G;NM_000540.2:c.2360+111A>G;NM_001042723.1:c.2360+111A>G 482598128 115461795 HumanOmni2.5-4v1_D_kgp22731782-0_B_R_1860436399 3.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38950089A>G;NG_008866.1:g.30750A>G;NM_000540.2:c.2360+111A>G;NM_001042723.1:c.2360+111A>G 483825899 115461795 HumanOmni2.5-4v1_B_SNP19-43641929-0_B_R_1637737239 3.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38950147C>T;NG_008866.1:g.30808C>T;NM_000540.2:c.2360+169C>T;NM_001042723.1:c.2360+169C>T 6628587 4802475 NT_011109.13_1105162 9.00e-04 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950147C>T;NG_008866.1:g.30808C>T;NM_000540.2:c.2360+169C>T;NM_001042723.1:c.2360+169C>T 465586640 4802475 20101123_snps_11753870_chr19_38950147 9.00e-04 2011.07.20 2011.07.20 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950190G>A;NG_008866.1:g.30851G>A;NM_000540.2:c.2360+212G>A;NM_001042723.1:c.2360+212G>A 465586641 187786197 20101123_snps_11753871_chr19_38950190 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950204C>T;NG_008866.1:g.30865C>T;NM_000540.2:c.2360+226C>T;NM_001042723.1:c.2360+226C>T 465586642 192376628 20101123_snps_11753872_chr19_38950204 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950220T>C;NG_008866.1:g.30881T>C;NM_000540.2:c.2360+242T>C;NM_001042723.1:c.2360+242T>C 465586643 185565158 20101123_snps_11753873_chr19_38950220 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950262G>A;NG_008866.1:g.30923G>A;NM_000540.2:c.2360+284G>A;NM_001042723.1:c.2360+284G>A 340454374 146906767 20100804_snps_12097915_chr19_38950262 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 256205629 138474097 SNP3811_19_43642146 3.82e-01 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 288525674 138474097 GMI_NA10851_INDEL_296298 3.82e-01 2010.12.22 2010.12.22 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 289387891 138474097 GMI_AK_INDEL_1065348 3.82e-01 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 327903751 138474097 JPTCHB_chr19_43642146_indel 3.82e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 328032184 138474097 CEU_chr19_43642146_indel 3.82e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 328276224 138474097 YRI_chr19_43642146_indel 3.82e-01 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950306_38950307insTGA;NG_008866.1:g.30967_30968insTGA;NM_000540.2:c.2360+328_2360+329insTGA;NM_001042723.1:c.2360+328_2360+329insTGA 499576249 138474097 20110316_indels_chr19_38950306_38950307 3.82e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38950307_38950308insTGA;NG_008866.1:g.30968_30969insTGA;NM_000540.2:c.2360+329_2360+330insTGA;NM_001042723.1:c.2360+329_2360+330insTGA 101919449 68086559 INDEL_GP36_2008a_1183283_0 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 DEVINE_LAB 6261 NC_000019.9:g.38950307_38950308insTGA;NG_008866.1:g.30968_30969insTGA;NM_000540.2:c.2360+329_2360+330insTGA;NM_001042723.1:c.2360+329_2360+330insTGA 101919451 68086559 INDEL_GP36_2008a_1183283_1 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 DEVINE_LAB 6261 NC_000019.9:g.38950307_38950308insTGA;NG_008866.1:g.30968_30969insTGA;NM_000540.2:c.2360+329_2360+330insTGA;NM_001042723.1:c.2360+329_2360+330insTGA 101919453 68086559 INDEL_GP36_2008a_1183283_2 2008.05.18 2008.05.18 2009.02.06 2011.09.17 137 PJP 6261 NC_000019.9:g.38950307_38950308insTGA;NG_008866.1:g.30968_30969insTGA;NM_000540.2:c.2360+329_2360+330insTGA;NM_001042723.1:c.2360+329_2360+330insTGA 294962529 68086559 DIP_400233_chr19_43642147 2011.01.22 2011.01.22 2009.02.06 2011.09.17 137 YUSUKE 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 5024482 3837966 IMS-JST143579 2002.08.12 2003.10.10 2002.08.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 81614637 3837966 Cor18555_DIV_20070510.chr19_43642153-43642154_1 2007.12.01 2007.12.01 2002.08.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 83401315 3837966 Cor18517_DIV_20070510.chr19_43642153-43642154_1 2007.12.04 2007.12.04 2002.08.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 83614297 3837966 Cor18517_DIV_20070510.chr19_43642153-43642154_2 2007.12.05 2007.12.05 2002.08.28 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 95728333 3837966 1104685411594 2008.03.23 2008.12.03 2002.08.28 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38950313_38950314insGAT;NG_008866.1:g.30974_30975insGAT;NM_000540.2:c.2360+335_2360+336insGAT;NM_001042723.1:c.2360+335_2360+336insGAT 103848655 3837966 JWB-4183134 2008.06.07 2009.05.12 2002.08.28 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38950308_38950309insGAT;NG_008866.1:g.30969_30970insGAT;NM_000540.2:c.2360+330_2360+331insGAT;NM_001042723.1:c.2360+330_2360+331insGAT 100859484 67238436 INDEL_GP36_2008a_1800618_0 2008.05.17 2008.05.17 2009.02.05 2012.12.04 137 DEVINE_LAB 6261 NC_000019.9:g.38950308_38950309insGAT;NG_008866.1:g.30969_30970insGAT;NM_000540.2:c.2360+330_2360+331insGAT;NM_001042723.1:c.2360+330_2360+331insGAT 100859487 67238436 INDEL_GP36_2008a_1800618_1 2008.05.17 2008.05.17 2009.02.05 2012.12.04 137 1000GENOMES 6261 NC_000019.9:g.38950390A>C;NG_008866.1:g.31051A>C;NM_000540.2:c.2360+412A>C;NM_001042723.1:c.2360+412A>C 237674106 78056419 pilot_1_CEU_7278735_chr19_43642230 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BGI 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 103437725 73930587 BGI_YHSNP0125965 2.11e-01 2008.06.06 2009.06.17 2009.02.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 117702492 73930587 NA18507_000043840_NCBI36.1_chr19_43642233 2.11e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 171754188 73930587 NA20431_36_chr19_43642233 2.11e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 203750841 73930587 BUSHMAN-chr19-43642232 2.11e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 208382445 73930587 BCM_CMT_1011-3085080 2.11e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 228135597 73930587 pilot_1_YRI_9945280_chr19_43642233 2.11e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 237674107 73930587 pilot_1_CEU_7278736_chr19_43642233 2.11e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 243880913 73930587 pilot_1_CHB+JPT_5765990_chr19_43642233 2.11e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38950393G>A;NG_008866.1:g.31054G>A;NM_000540.2:c.2360+415G>A;NM_001042723.1:c.2360+415G>A 283205884 73930587 GMI_AK_SNP_7526305 2.11e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950438A>G;NG_008866.1:g.31099A>G;NM_000540.2:c.2360+460A>G;NM_001042723.1:c.2360+460A>G 340454375 139297179 20100804_snps_12097916_chr19_38950438 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38950449C>T;NG_008866.1:g.31110C>T;NM_000540.2:c.2360+471C>T;NM_001042723.1:c.2360+471C>T 465586644 190386809 20101123_snps_11753874_chr19_38950449 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950517G>T;NG_008866.1:g.31178G>T;NM_000540.2:c.2361-498G>T;NM_001042723.1:c.2361-498G>T 340454376 149362657 20100804_snps_12097917_chr19_38950517 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38950531G>A;NG_008866.1:g.31192G>A;NM_000540.2:c.2361-484G>A;NM_001042723.1:c.2361-484G>A 237674108 117163044 pilot_1_CEU_7278737_chr19_43642371 2.70e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38950531G>A;NG_008866.1:g.31192G>A;NM_000540.2:c.2361-484G>A;NM_001042723.1:c.2361-484G>A 243880914 117163044 pilot_1_CHB+JPT_5765991_chr19_43642371 2.70e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38950620A>G;NG_008866.1:g.31281A>G;NM_000540.2:c.2361-395A>G;NM_001042723.1:c.2361-395A>G 85715495 59047386 Cor19129_SNV_20070510.chr19_43642460 3.70e-03 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950620A>G;NG_008866.1:g.31281A>G;NM_000540.2:c.2361-395A>G;NM_001042723.1:c.2361-395A>G 340454377 59047386 20100804_snps_12097918_chr19_38950620 3.70e-03 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950683C>T;NG_008866.1:g.31344C>T;NM_000540.2:c.2361-332C>T;NM_001042723.1:c.2361-332C>T 340454378 148122959 20100804_snps_12097919_chr19_38950683 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38950702C>T;NG_008866.1:g.31363C>T;NM_000540.2:c.2361-313C>T;NM_001042723.1:c.2361-313C>T 465586645 181458565 20101123_snps_11753875_chr19_38950702 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950703G>A;NG_008866.1:g.31364G>A;NM_000540.2:c.2361-312G>A;NM_001042723.1:c.2361-312G>A 465586646 184497019 20101123_snps_11753876_chr19_38950703 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950772T>C;NG_008866.1:g.31433T>C;NM_000540.2:c.2361-243T>C;NM_001042723.1:c.2361-243T>C 465586647 189253704 20101123_snps_11753877_chr19_38950772 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950830T>C;NG_008866.1:g.31491T>C;NM_000540.2:c.2361-185T>C;NM_001042723.1:c.2361-185T>C 465586648 181180391 20101123_snps_11753878_chr19_38950830 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38950843A>G;NG_008866.1:g.31504A>G;NM_000540.2:c.2361-172A>G;NM_001042723.1:c.2361-172A>G 465586649 186491851 20101123_snps_11753879_chr19_38950843 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 3250961 2304147 IMS-JST061046 3.81e-01 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 12474050 2304147 chr19.NT_011109.15_11219165 3.81e-01 germline untested 2003.07.04 2004.04.07 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 14729432 2304147 chr19.NT_011109.15_11219165 3.81e-01 unknown untested 2003.11.10 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 21556075 2304147 WGSA-200403-chr19.chr19.NT_011109.15_11219165 3.81e-01 germline untested 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 65759126 2304147 Human1-rs2304147 3.81e-01 unknown untested 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 74894209 2304147 ILMN_Human_1M_rs2304147 3.81e-01 germline untested 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 86167552 2304147 Cor18517_SNV_20070510.chr19_43642787 3.81e-01 germline untested 2007.12.11 2007.12.11 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 90969859 2304147 JWB-1168174 3.81e-01 germline untested 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 96266962 2304147 1103691141780 3.81e-01 germline untested 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 103437726 2304147 BGI_rs2304147 3.81e-01 unknown untested 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 111365292 2304147 CEU.trio.12.15.2008_3616598_chr19_43642787 3.81e-01 germline untested 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 115120084 2304147 NA19240_2008_12_16_3257551_chr19_43642787 3.81e-01 germline untested 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 119430308 2304147 KHS1592555 3.81e-01 germline untested 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 136267573 2304147 ENSSNP1527880 3.81e-01 germline untested 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 137670286 2304147 ENSSNP11444299 3.81e-01 unknown untested 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 155887461 2304147 GMI_SNP_40702299 3.81e-01 unknown untested 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 168182809 2304147 NA07022_36_chr19_43642787 3.81e-01 germline untested 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 169706357 2304147 NA19240_36_chr19_43642787 3.81e-01 germline untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 171754195 2304147 NA20431_36_chr19_43642787 3.81e-01 unknown untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 173278210 2304147 Human1M-Duov3_B_rs2304147-128_B_F_1513897327 3.81e-01 germline untested 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 203750842 2304147 BUSHMAN-chr19-43642786 3.81e-01 unknown untested 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 208460761 2304147 BCM_CMT_1011-3111116 3.81e-01 unknown untested 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 228135598 2304147 pilot_1_YRI_9945281_chr19_43642787 3.81e-01 germline untested 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 237674109 2304147 pilot_1_CEU_7278738_chr19_43642787 3.81e-01 unknown untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 243880915 2304147 pilot_1_CHB+JPT_5765992_chr19_43642787 3.81e-01 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 255668237 2304147 SNP49593_19_43642787 3.81e-01 unknown untested 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 283205885 2304147 GMI_AK_SNP_7526306 3.81e-01 unknown untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 292248471 2304147 SNP_1754829_chr19_43642787 3.81e-01 germline untested 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2361-68C>T NC_000019.9:g.38950947C>T;NG_008866.1:g.31608C>T;NM_000540.2:c.2361-68C>T;NM_001042723.1:c.2361-68C>T 475871486 2304147 RYR1_00036 3.81e-01 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950973A>G;NG_008866.1:g.31634A>G;NM_000540.2:c.2361-42A>G;NM_001042723.1:c.2361-42A>G 228135599 115515082 pilot_1_YRI_9945282_chr19_43642813 1.69e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38950973A>G;NG_008866.1:g.31634A>G;NM_000540.2:c.2361-42A>G;NM_001042723.1:c.2361-42A>G 491157936 115515082 20110521_exome_665734_chr19_38950973 1.69e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38950973A>G;NG_008866.1:g.31634A>G;NM_000540.2:c.2361-42A>G;NM_001042723.1:c.2361-42A>G 491766145 115515082 SNV-chr19-43642813 1.69e-02 2012.03.07 2012.03.13 2010.07.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38950987A>G;NG_008866.1:g.31648A>G;NM_000540.2:c.2361-28A>G;NM_001042723.1:c.2361-28A>G 203750843 112123262 BUSHMAN-chr19-43642826 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 ILLUMINA 6261 NC_000019.9:g.38951014G>A;NG_008866.1:g.31675G>A;NM_000540.2:c.2361-1G>A;NM_001042723.1:c.2361-1G>A 169117064 113379223 Human1M-Duov3_B_GA034475-0_T_F_1533482221 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38951020G>A;NG_008866.1:g.31681G>A;NM_000540.2:c.2366G>A;NM_001042723.1:c.2366G>A;NP_000531.2:p.Arg789Gln;NP_001036188.1:p.Arg789Gln 489164390 200069592 20110521_exome_255588_chr19_38951020 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38951020G>A;NG_008866.1:g.31681G>A;NM_000540.2:c.2366G>A;NM_001042723.1:c.2366G>A;NP_000531.2:p.Arg789Gln;NP_001036188.1:p.Arg789Gln 491546428 200069592 nonsyn_262654_chr_19_38951020 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951038G>A;NG_008866.1:g.31699G>A;NM_000540.2:c.2384G>A;NM_001042723.1:c.2384G>A;NP_000531.2:p.Arg795His;NP_001036188.1:p.Arg795His 489164392 201635585 20110521_exome_255589_chr19_38951038 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951069T>C;NG_008866.1:g.31730T>C;NM_000540.2:c.2415T>C;NM_001042723.1:c.2415T>C;NP_000531.2:p.Pro805=;NP_001036188.1:p.Pro805= 340454379 141881325 20100804_snps_12097920_chr19_38951069 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38951069T>C;NG_008866.1:g.31730T>C;NM_000540.2:c.2415T>C;NM_001042723.1:c.2415T>C;NP_000531.2:p.Pro805=;NP_001036188.1:p.Pro805= 342496406 141881325 ESP2500-chr19-38951069 3.20e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951069T>C;NG_008866.1:g.31730T>C;NM_000540.2:c.2415T>C;NM_001042723.1:c.2415T>C;NP_000531.2:p.Pro805=;NP_001036188.1:p.Pro805= 491157937 141881325 20110521_exome_665735_chr19_38951069 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951103C>T;NG_008866.1:g.31764C>T;NM_000540.2:c.2449C>T;NM_001042723.1:c.2449C>T;NP_000531.2:p.Arg817Ter;NP_001036188.1:p.Arg817Ter 340454380 150633775 20100804_snps_12097921_chr19_38951103 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951103C>T;NG_008866.1:g.31764C>T;NM_000540.2:c.2449C>T;NM_001042723.1:c.2449C>T;NP_000531.2:p.Arg817Ter;NP_001036188.1:p.Arg817Ter 491157938 150633775 20110521_exome_665736_chr19_38951103 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2455C>T NC_000019.9:g.38951109C>T;NG_008866.1:g.31770C>T;NM_000540.2:c.2455C>T;NM_001042723.1:c.2455C>T;NP_000531.2:p.Arg819Ter;NP_001036188.1:p.Arg819Ter 475871487 193922774 RYR1_00324 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38951142C>T;NG_008866.1:g.31803C>T;NM_000540.2:c.2488C>T;NM_001042723.1:c.2488C>T;NP_000531.2:p.Arg830Trp;NP_001036188.1:p.Arg830Trp 342496407 142548565 ESP2500-chr19-38951142 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38951142C>T;NG_008866.1:g.31803C>T;NM_000540.2:c.2488C>T;NM_001042723.1:c.2488C>T;NP_000531.2:p.Arg830Trp;NP_001036188.1:p.Arg830Trp 491546429 142548565 nonsyn_262655_chr_19_38951142 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38951144G>A;NG_008866.1:g.31805G>A;NM_000540.2:c.2490G>A;NM_001042723.1:c.2490G>A;NP_000531.2:p.Arg830=;NP_001036188.1:p.Arg830= 342496408 150934716 ESP2500-chr19-38951144 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38951154C>T;NG_008866.1:g.31815C>T;NM_000540.2:c.2500C>T;NM_001042723.1:c.2500C>T;NP_000531.2:p.Arg834Trp;NP_001036188.1:p.Arg834Trp 342496409 140686309 ESP2500-chr19-38951154 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38951182G>T;NG_008866.1:g.31843G>T;NM_000540.2:c.2528G>T;NM_001042723.1:c.2528G>T;NP_000531.2:p.Arg843Leu;NP_001036188.1:p.Arg843Leu 342496410 144911352 ESP2500-chr19-38951182 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38951185G>A;NG_008866.1:g.31846G>A;NM_000540.2:c.2531G>A;NM_001042723.1:c.2531G>A;NP_000531.2:p.Cys844Tyr;NP_001036188.1:p.Cys844Tyr 342496411 146754847 ESP2500-chr19-38951185 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.38951187C>T;NG_008866.1:g.31848C>T;NM_000540.2:c.2533C>T;NM_001042723.1:c.2533C>T;NP_000531.2:p.Leu845Phe;NP_001036188.1:p.Leu845Phe 491766146 201545585 SNV-chr19-43643027 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2537C>T NC_000019.9:g.38951191C>T;NG_008866.1:g.31852C>T;NM_000540.2:c.2537C>T;NM_001042723.1:c.2537C>T;NP_000531.2:p.Ser846Leu;NP_001036188.1:p.Ser846Leu 475871488 193922775 RYR1_00067 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38951198C>T;NG_008866.1:g.31859C>T;NM_000540.2:c.2544C>T;NM_001042723.1:c.2544C>T;NP_000531.2:p.Thr848=;NP_001036188.1:p.Thr848= 342496412 140374285 ESP2500-chr19-38951198 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38951199G>A;NG_008866.1:g.31860G>A;NM_000540.2:c.2545G>A;NM_001042723.1:c.2545G>A;NP_000531.2:p.Asp849Asn;NP_001036188.1:p.Asp849Asn 489164394 200893443 20110521_exome_255590_chr19_38951199 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38951199G>A;NG_008866.1:g.31860G>A;NM_000540.2:c.2545G>A;NM_001042723.1:c.2545G>A;NP_000531.2:p.Asp849Asn;NP_001036188.1:p.Asp849Asn 491546430 200893443 nonsyn_262656_chr_19_38951199 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951256T>C;NG_008866.1:g.31917T>C;NM_000540.2:c.2577+25T>C;NM_001042723.1:c.2577+25T>C 340454381 78124022 20100804_snps_12097922_chr19_38951256 1.28e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951256T>C;NG_008866.1:g.31917T>C;NM_000540.2:c.2577+25T>C;NM_001042723.1:c.2577+25T>C 491157939 78124022 20110521_exome_665737_chr19_38951256 1.28e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951261C>A;NG_008866.1:g.31922C>A;NM_000540.2:c.2577+30C>A;NM_001042723.1:c.2577+30C>A 340454382 143335342 20100804_snps_12097923_chr19_38951261 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951261C>A;NG_008866.1:g.31922C>A;NM_000540.2:c.2577+30C>A;NM_001042723.1:c.2577+30C>A 491157940 143335342 20110521_exome_665738_chr19_38951261 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38951262G>C;NG_008866.1:g.31923G>C;NM_000540.2:c.2577+31G>C;NM_001042723.1:c.2577+31G>C 155887468 74617198 GMI_SNP_104074401 9.20e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38951262G>C;NG_008866.1:g.31923G>C;NM_000540.2:c.2577+31G>C;NM_001042723.1:c.2577+31G>C 283205886 74617198 GMI_AK_SNP_7526307 9.20e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951262G>C;NG_008866.1:g.31923G>C;NM_000540.2:c.2577+31G>C;NM_001042723.1:c.2577+31G>C 340454383 74617198 20100804_snps_12097924_chr19_38951262 9.20e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951262G>C;NG_008866.1:g.31923G>C;NM_000540.2:c.2577+31G>C;NM_001042723.1:c.2577+31G>C 491157941 74617198 20110521_exome_665739_chr19_38951262 9.20e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951344G>A;NG_008866.1:g.32005G>A;NM_000540.2:c.2577+113G>A;NM_001042723.1:c.2577+113G>A 340454384 139408813 20100804_snps_12097925_chr19_38951344 1.69e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38951383C>T;NG_008866.1:g.32044C>T;NM_000540.2:c.2577+152C>T;NM_001042723.1:c.2577+152C>T 340454385 149887054 20100804_snps_12097926_chr19_38951383 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38951389G>A;NG_008866.1:g.32050G>A;NM_000540.2:c.2577+158G>A;NM_001042723.1:c.2577+158G>A 340454386 144880434 20100804_snps_12097927_chr19_38951389 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38951407C>G;NG_008866.1:g.32068C>G;NM_000540.2:c.2577+176C>G;NM_001042723.1:c.2577+176C>G 203750844 113888613 BUSHMAN-chr19-43643246 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38951638A>C;NG_008866.1:g.32299A>C;NM_000540.2:c.2577+407A>C;NM_001042723.1:c.2577+407A>C 340454387 149025063 20100804_snps_12097928_chr19_38951638 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38951719G>A;NG_008866.1:g.32380G>A;NM_000540.2:c.2577+488G>A;NM_001042723.1:c.2577+488G>A 340454388 142120606 20100804_snps_12097929_chr19_38951719 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38951795delA;NC_000019.9:g.38951795delAinsAAAC;NG_008866.1:g.32456delA;NG_008866.1:g.32456delAinsAAAC;NM_000540.2:c.2577+564delA;NM_000540.2:c.2577+564delAinsAAAC;NM_001042723.1:c.2577+564delA;NM_001042723.1:c.2577+564delAinsAAAC 41004616 36130641 hCV32823838 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 GMI 6261 NC_000019.9:g.38951795_38951798delAAAC;NG_008866.1:g.32456_32459delAAAC;NM_000540.2:c.2577+564_2577+567delAAAC;NM_001042723.1:c.2577+564_2577+567delAAAC 289387892 143176132 GMI_AK_INDEL_1065349 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951795_38951798delAAAC;NG_008866.1:g.32456_32459delAAAC;NM_000540.2:c.2577+564_2577+567delAAAC;NM_001042723.1:c.2577+564_2577+567delAAAC 327903754 143176132 JPTCHB_chr19_43643634_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951795_38951798delAAAC;NG_008866.1:g.32456_32459delAAAC;NM_000540.2:c.2577+564_2577+567delAAAC;NM_001042723.1:c.2577+564_2577+567delAAAC 328032187 143176132 CEU_chr19_43643634_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951795_38951798delAAAC;NG_008866.1:g.32456_32459delAAAC;NM_000540.2:c.2577+564_2577+567delAAAC;NM_001042723.1:c.2577+564_2577+567delAAAC 328276225 143176132 YRI_chr19_43643634_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38951795_38951798delAAAC;NG_008866.1:g.32456_32459delAAAC;NM_000540.2:c.2577+564_2577+567delAAAC;NM_001042723.1:c.2577+564_2577+567delAAAC 499576253 143176132 20110316_indels_chr19_38951794_38951797 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 HGSV 6261 NC_000019.9:g.38951798delC;NC_000019.9:g.38951798delCinsCAAA;NG_008866.1:g.32459delC;NG_008866.1:g.32459delCinsCAAA;NM_000540.2:c.2577+567delC;NM_000540.2:c.2577+567delCinsCAAA;NM_001042723.1:c.2577+567delC;NM_001042723.1:c.2577+567delCinsCAAA 81754643 56838530 Cor18555_DIV_20070510.chr19_43643649-43643654_1 2007.12.01 2007.12.01 2007.12.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38951798delC;NC_000019.9:g.38951798delCinsCAAA;NG_008866.1:g.32459delC;NG_008866.1:g.32459delCinsCAAA;NM_000540.2:c.2577+567delC;NM_000540.2:c.2577+567delCinsCAAA;NM_001042723.1:c.2577+567delC;NM_001042723.1:c.2577+567delCinsCAAA 95728334 56838530 1104685411595 2008.03.23 2008.12.03 2007.12.14 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38951798delC;NC_000019.9:g.38951798delCinsCAAA;NG_008866.1:g.32459delC;NG_008866.1:g.32459delCinsCAAA;NM_000540.2:c.2577+567delC;NM_000540.2:c.2577+567delCinsCAAA;NM_001042723.1:c.2577+567delC;NM_001042723.1:c.2577+567delCinsCAAA 101963628 56838530 INDEL_GP36_2008a_2909147_0 2008.05.18 2008.05.18 2007.12.14 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38951798delC;NC_000019.9:g.38951798delCinsCAAA;NG_008866.1:g.32459delC;NG_008866.1:g.32459delCinsCAAA;NM_000540.2:c.2577+567delC;NM_000540.2:c.2577+567delCinsCAAA;NM_001042723.1:c.2577+567delC;NM_001042723.1:c.2577+567delCinsCAAA 103616555 56838530 JWB-4066186 2008.06.06 2009.05.11 2007.12.14 2011.09.09 137 PJP 6261 NC_000019.9:g.38951798_38951801delCAAA;NG_008866.1:g.32459_32462delCAAA;NM_000540.2:c.2577+567_2577+570delCAAA;NM_001042723.1:c.2577+567_2577+570delCAAA 294962531 146077950 DIP_400235_chr19_43643646 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38951852C>T;NG_008866.1:g.32513C>T;NM_000540.2:c.2577+621C>T;NM_001042723.1:c.2577+621C>T 340454389 147787091 20100804_snps_12097930_chr19_38951852 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38951942C>T;NG_008866.1:g.32603C>T;NM_000540.2:c.2577+711C>T;NM_001042723.1:c.2577+711C>T 203750845 111480924 BUSHMAN-chr19-43643781 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38951967G>A;NG_008866.1:g.32628G>A;NM_000540.2:c.2577+736G>A;NM_001042723.1:c.2577+736G>A 465586650 189324342 20101123_snps_11753880_chr19_38951967 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38951983G>T;NG_008866.1:g.32644G>T;NM_000540.2:c.2577+752G>T;NM_001042723.1:c.2577+752G>T 82688740 57940230 Cor18956_SNV_20070510.chr19_43643823 2007.12.03 2007.12.03 2007.12.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38951998G>A;NG_008866.1:g.32659G>A;NM_000540.2:c.2577+767G>A;NM_001042723.1:c.2577+767G>A 340454390 142540906 20100804_snps_12097931_chr19_38951998 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38952009G>A;NG_008866.1:g.32670G>A;NM_000540.2:c.2577+778G>A;NM_001042723.1:c.2577+778G>A 228135600 116073590 pilot_1_YRI_9945283_chr19_43643849 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 21533968 12979436 WGSA-200403-chr19.chr19.NT_011109.15_11220266 8.47e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 79046319 12979436 Cor18507_SNV_20070510.chr19_43643888 8.47e-02 2007.10.22 2007.10.22 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 96266963 12979436 1103691141781 8.47e-02 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 106055019 12979436 BGI_rs12979436 8.47e-02 2008.09.13 2009.06.17 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 111365307 12979436 CEU.trio.12.15.2008_3616600_chr19_43643888 8.47e-02 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 115120094 12979436 NA19240_2008_12_16_3257552_chr19_43643888 8.47e-02 2008.12.19 2008.12.19 2004.04.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 117702494 12979436 NA18507_000043841_NCBI36.1_chr19_43643888 8.47e-02 2009.01.20 2009.01.20 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 136267569 12979436 ENSSNP1527881 8.47e-02 2009.05.15 2009.10.15 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 155887476 12979436 GMI_SNP_40884645 8.47e-02 2009.06.24 2009.06.24 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 168182823 12979436 NA07022_36_chr19_43643888 8.47e-02 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 169706372 12979436 NA19240_36_chr19_43643888 8.47e-02 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 171754205 12979436 NA20431_36_chr19_43643888 8.47e-02 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 203750846 12979436 BUSHMAN-chr19-43643887 8.47e-02 2010.03.09 2010.03.09 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 208516391 12979436 BCM_CMT_1011-3130073 8.47e-02 2010.03.19 2010.03.19 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 228135601 12979436 pilot_1_YRI_9945284_chr19_43643888 8.47e-02 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 237674110 12979436 pilot_1_CEU_7278739_chr19_43643888 8.47e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 243880916 12979436 pilot_1_CHB+JPT_5765993_chr19_43643888 8.47e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 255668243 12979436 SNP49594_19_43643888 8.47e-02 2010.08.20 2010.08.20 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 283205887 12979436 GMI_AK_SNP_7526308 8.47e-02 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38952048A>G;NG_008866.1:g.32709A>G;NM_000540.2:c.2577+817A>G;NM_001042723.1:c.2577+817A>G 292248472 12979436 SNP_1754830_chr19_43643888 8.47e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952121A>G;NG_008866.1:g.32782A>G;NM_000540.2:c.2577+890A>G;NM_001042723.1:c.2577+890A>G 340454391 146757665 20100804_snps_12097932_chr19_38952121 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38952361_38952362insA;NG_008866.1:g.33022_33023insA;NM_000540.2:c.2577+1130_2577+1131insA;NM_001042723.1:c.2577+1130_2577+1131insA 41033771 34209906 hCV32823839 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 HGSV 6261 NC_000019.9:g.38952362_38952363insA;NG_008866.1:g.33023_33024insA;NM_000540.2:c.2577+1131_2577+1132insA;NM_001042723.1:c.2577+1131_2577+1132insA 81084184 61670463 Cor18956_DIV_20070510.chr19_43644220-43644221_1 2007.11.27 2007.11.27 2007.12.16 2011.07.08 137 HGSV 6261 NC_000019.9:g.38952362_38952363insA;NG_008866.1:g.33023_33024insA;NM_000540.2:c.2577+1131_2577+1132insA;NM_001042723.1:c.2577+1131_2577+1132insA 83498267 61670463 Cor18517_DIV_20070510.chr19_43644220-43644221_1 2007.12.05 2007.12.05 2007.12.16 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38952384_38952387delAGGG;NG_008866.1:g.33045_33048delAGGG;NM_000540.2:c.2577+1153_2577+1156delAGGG;NM_001042723.1:c.2577+1153_2577+1156delAGGG 327903758 145856561 JPTCHB_chr19_43644223_indel 2.19e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952384_38952387delAGGG;NG_008866.1:g.33045_33048delAGGG;NM_000540.2:c.2577+1153_2577+1156delAGGG;NM_001042723.1:c.2577+1153_2577+1156delAGGG 328032188 145856561 CEU_chr19_43644223_indel 2.19e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952384_38952387delAGGG;NG_008866.1:g.33045_33048delAGGG;NM_000540.2:c.2577+1153_2577+1156delAGGG;NM_001042723.1:c.2577+1153_2577+1156delAGGG 499576257 145856561 20110316_indels_chr19_38952383_38952386 2.19e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 HGSV 6261 NC_000019.9:g.38952386G>A;NG_008866.1:g.33047G>A;NM_000540.2:c.2577+1155G>A;NM_001042723.1:c.2577+1155G>A 81381210 57121743 Cor18507_SNV_20070510.chr19_43644226 2007.11.29 2007.11.29 2007.12.14 2011.07.08 137 HGSV 6261 NC_000019.9:g.38952387G>A;NG_008866.1:g.33048G>A;NM_000540.2:c.2577+1156G>A;NM_001042723.1:c.2577+1156G>A 80115452 57273154 Cor18507_SNV_20070510.chr19_43644227 2007.11.24 2007.11.24 2007.12.14 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38952452T>C;NG_008866.1:g.33113T>C;NM_000540.2:c.2577+1221T>C;NM_001042723.1:c.2577+1221T>C 203750847 113253831 BUSHMAN-chr19-43644291 3.71e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952452T>C;NG_008866.1:g.33113T>C;NM_000540.2:c.2577+1221T>C;NM_001042723.1:c.2577+1221T>C 340454393 113253831 20100804_snps_12097934_chr19_38952452 3.71e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38952668C>T;NG_008866.1:g.33329C>T;NM_000540.2:c.2578-1395C>T;NM_001042723.1:c.2578-1395C>T 21539905 12981144 WGSA-200403-chr19.chr19.NT_011109.15_11220886 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38952746C>T;NG_008866.1:g.33407C>T;NM_000540.2:c.2578-1317C>T;NM_001042723.1:c.2578-1317C>T 340454394 150410459 20100804_snps_12097935_chr19_38952746 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38952825A>G;NG_008866.1:g.33486A>G;NM_000540.2:c.2578-1238A>G;NM_001042723.1:c.2578-1238A>G 228135602 116504725 pilot_1_YRI_9945285_chr19_43644665 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38952831C>T;NG_008866.1:g.33492C>T;NM_000540.2:c.2578-1232C>T;NM_001042723.1:c.2578-1232C>T 465586651 180956130 20101123_snps_11753881_chr19_38952831 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 10919334 7246304 chr19.NT_011109.15_11221068 3.53e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 16786611 7246304 CSHL-HuAA-200402.chr19.NT_011109.15_11221068 3.53e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 21512110 7246304 WGSA-200403-chr19.chr19.NT_011109.15_11221068 3.53e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 77687065 7246304 Cor12156_SNV_20070510.chr19_43644690 3.53e-01 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 90969862 7246304 JWB-1168175 3.53e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 BGI 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 103437727 7246304 BGI_rs7246304 3.53e-01 2008.06.06 2009.06.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 111365315 7246304 CEU.trio.12.15.2008_3616601_chr19_43644690 3.53e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 115120099 7246304 NA19240_2008_12_16_3257553_chr19_43644690 3.53e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 137670288 7246304 ENSSNP11444300 3.53e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 155887481 7246304 GMI_SNP_41110105 3.53e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 161878495 7246304 ENSSNP1527882 3.53e-01 2009.09.26 2009.09.26 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 168182836 7246304 NA07022_36_chr19_43644690 3.53e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 169706400 7246304 NA19240_36_chr19_43644690 3.53e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 171754215 7246304 NA20431_36_chr19_43644690 3.53e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 203750848 7246304 BUSHMAN-chr19-43644689 3.53e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 208449663 7246304 BCM_CMT_1011-3107341 3.53e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 228135603 7246304 pilot_1_YRI_9945286_chr19_43644690 3.53e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 237674111 7246304 pilot_1_CEU_7278740_chr19_43644690 3.53e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 243880917 7246304 pilot_1_CHB+JPT_5765994_chr19_43644690 3.53e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 255668248 7246304 SNP49595_19_43644690 3.53e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 283205888 7246304 GMI_AK_SNP_7526309 3.53e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38952850G>C;NG_008866.1:g.33511G>C;NM_000540.2:c.2578-1213G>C;NM_001042723.1:c.2578-1213G>C 292248473 7246304 SNP_1754831_chr19_43644690 3.53e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38952980G>C;NG_008866.1:g.33641G>C;NM_000540.2:c.2578-1083G>C;NM_001042723.1:c.2578-1083G>C 228135604 77439720 pilot_1_YRI_9945287_chr19_43644820 5.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38953013C>T;NG_008866.1:g.33674C>T;NM_000540.2:c.2578-1050C>T;NM_001042723.1:c.2578-1050C>T 228135605 74677476 pilot_1_YRI_9945288_chr19_43644853 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38953021A>G;NG_008866.1:g.33682A>G;NM_000540.2:c.2578-1042A>G;NM_001042723.1:c.2578-1042A>G 203750849 112553103 BUSHMAN-chr19-43644860 8.20e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953021A>G;NG_008866.1:g.33682A>G;NM_000540.2:c.2578-1042A>G;NM_001042723.1:c.2578-1042A>G 340454395 112553103 20100804_snps_12097936_chr19_38953021 8.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 6628593 4802479 NT_011109.13_1108070 4.22e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 10919803 4802479 chr19.NT_011109.15_11221273 4.22e-01 2003.06.30 2003.11.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 16786802 4802479 CSHL-HuAA-200402.chr19.NT_011109.15_11221273 4.22e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 21513822 4802479 WGSA-200403-chr19.chr19.NT_011109.15_11221273 4.22e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 23763097 4802479 afd4572465 4.22e-01 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 77222629 4802479 Cor12156_SNV_20070510.chr19_43644895 4.22e-01 2007.10.10 2007.10.12 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 90969863 4802479 JWB-1168176 4.22e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 103437728 4802479 BGI_rs4802479 4.22e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 111365323 4802479 CEU.trio.12.15.2008_3616602_chr19_43644895 4.22e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 115120111 4802479 NA19240_2008_12_16_3257554_chr19_43644895 4.22e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 132762394 4802479 ENSSNP1527883 4.22e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 137670292 4802479 ENSSNP6176355 4.22e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 155887490 4802479 GMI_SNP_40659384 4.22e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 168182849 4802479 NA07022_36_chr19_43644895 4.22e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 169706417 4802479 NA19240_36_chr19_43644895 4.22e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 171754221 4802479 NA20431_36_chr19_43644895 4.22e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 208512856 4802479 BCM_CMT_1011-3128832 4.22e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 228135606 4802479 pilot_1_YRI_9945289_chr19_43644895 4.22e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 237674112 4802479 pilot_1_CEU_7278741_chr19_43644895 4.22e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 243880918 4802479 pilot_1_CHB+JPT_5765995_chr19_43644895 4.22e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 283205889 4802479 GMI_AK_SNP_7526310 4.22e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38953055G>C;NG_008866.1:g.33716G>C;NM_000540.2:c.2578-1008G>C;NM_001042723.1:c.2578-1008G>C 292248474 4802479 SNP_1754832_chr19_43644895 4.22e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 6628598 4802481 NT_011109.13_1108124 3.77e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 10920003 4802481 chr19.NT_011109.15_11221327 3.77e-01 2003.06.30 2006.10.25 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 21514491 4802481 WGSA-200403-chr19.chr19.NT_011109.15_11221327 3.77e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 23763098 4802481 afd4422465 3.77e-01 2004.08.20 2004.09.13 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 75124601 4802481 ILMN_Human_1M_rs4802481 3.77e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 77577390 4802481 Cor12156_SNV_20070510.chr19_43644949 3.77e-01 2007.10.13 2007.10.13 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 90969866 4802481 JWB-1168177 3.77e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 103437729 4802481 BGI_rs4802481 3.77e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 115120116 4802481 NA19240_2008_12_16_3257555_chr19_43644949 3.77e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 119489204 4802481 KHS1651451 3.77e-01 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 132762397 4802481 ENSSNP1527884 3.77e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 137670294 4802481 ENSSNP11444302 3.77e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 155887496 4802481 GMI_SNP_74256920 3.77e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 168182861 4802481 NA07022_36_chr19_43644949 3.77e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 169706432 4802481 NA19240_36_chr19_43644949 3.77e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 173821101 4802481 Human1M-Duov3_B_rs4802481-128_T_R_1514108554 3.77e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 208487494 4802481 BCM_CMT_1011-3119929 3.77e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 210946286 4802481 CEU.trio.3.2010_162535_chr19_43644949 3.77e-01 2010.03.29 2010.03.29 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 228135607 4802481 pilot_1_YRI_9945290_chr19_43644949 3.77e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 237674113 4802481 pilot_1_CEU_7278742_chr19_43644949 3.77e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 243880919 4802481 pilot_1_CHB+JPT_5765996_chr19_43644949 3.77e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 255668253 4802481 SNP49596_19_43644949 3.77e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 283205890 4802481 GMI_AK_SNP_7526311 3.77e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38953109G>T;NG_008866.1:g.33770G>T;NM_000540.2:c.2578-954G>T;NM_001042723.1:c.2578-954G>T 292248475 4802481 SNP_1754833_chr19_43644949 3.77e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953136C>T;NG_008866.1:g.33797C>T;NM_000540.2:c.2578-927C>T;NM_001042723.1:c.2578-927C>T 340454397 146095085 20100804_snps_12097938_chr19_38953136 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953143G>A;NG_008866.1:g.33804G>A;NM_000540.2:c.2578-920G>A;NM_001042723.1:c.2578-920G>A 208532673 113776663 BCM_CMT_1011-3135553 9.00e-04 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953143G>A;NG_008866.1:g.33804G>A;NM_000540.2:c.2578-920G>A;NM_001042723.1:c.2578-920G>A 340454398 113776663 20100804_snps_12097939_chr19_38953143 9.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38953151C>T;NG_008866.1:g.33812C>T;NM_000540.2:c.2578-912C>T;NM_001042723.1:c.2578-912C>T 203750850 113151133 BUSHMAN-chr19-43644990 1.97e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953151C>T;NG_008866.1:g.33812C>T;NM_000540.2:c.2578-912C>T;NM_001042723.1:c.2578-912C>T 228135608 113151133 pilot_1_YRI_9945291_chr19_43644991 1.97e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953159T>C;NG_008866.1:g.33820T>C;NM_000540.2:c.2578-904T>C;NM_001042723.1:c.2578-904T>C 340454399 141797025 20100804_snps_12097940_chr19_38953159 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38953203C>T;NG_008866.1:g.33864C>T;NM_000540.2:c.2578-860C>T;NM_001042723.1:c.2578-860C>T 340454400 146240956 20100804_snps_12097941_chr19_38953203 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 117702496 73930588 NA18507_000043842_NCBI36.1_chr19_43645050 2.08e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 171754225 73930588 NA20431_36_chr19_43645050 2.08e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 208457313 73930588 BCM_CMT_1011-3109941 2.08e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 228135609 73930588 pilot_1_YRI_9945292_chr19_43645050 2.08e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 237674114 73930588 pilot_1_CEU_7278743_chr19_43645050 2.08e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 243880920 73930588 pilot_1_CHB+JPT_5765997_chr19_43645050 2.08e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38953210A>T;NG_008866.1:g.33871A>T;NM_000540.2:c.2578-853A>T;NM_001042723.1:c.2578-853A>T 283205891 73930588 GMI_AK_SNP_7526312 2.08e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38953244delA;NG_008866.1:g.33905delA;NM_000540.2:c.2578-819delA;NM_001042723.1:c.2578-819delA 289387893 200883695 GMI_AK_INDEL_1065350 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 BGI 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 104719101 77215632 BGI_YHIndel34220 2.20e-01 2008.06.09 2009.06.16 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 193510324 77215632 BUSHMAN-chr19-43645084-43645085 2.20e-01 2010.02.16 2010.02.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 289387894 77215632 GMI_AK_INDEL_1065351 2.20e-01 2010.12.30 2011.12.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 327903762 77215632 JPTCHB_chr19_43645084_indel 2.20e-01 2011.03.13 2011.04.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 328032190 77215632 CEU_chr19_43645084_indel 2.20e-01 2011.03.13 2011.04.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 328276226 77215632 YRI_chr19_43645084_indel 2.20e-01 2011.03.13 2011.04.04 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953245delG;NG_008866.1:g.33906delG;NM_000540.2:c.2578-818delG;NM_001042723.1:c.2578-818delG 499576262 77215632 20110316_indels_chr19_38953244_38953244 2.20e-01 2012.03.20 2012.03.20 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38953501G>A;NG_008866.1:g.34162G>A;NM_000540.2:c.2578-562G>A;NM_001042723.1:c.2578-562G>A 283205892 79666591 GMI_AK_SNP_7526313 1.69e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953501G>A;NG_008866.1:g.34162G>A;NM_000540.2:c.2578-562G>A;NM_001042723.1:c.2578-562G>A 340454401 79666591 20100804_snps_12097942_chr19_38953501 1.69e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38953526C>G;NG_008866.1:g.34187C>G;NM_000540.2:c.2578-537C>G;NM_001042723.1:c.2578-537C>G 117702498 77439497 NA18507_000043843_NCBI36.1_chr19_43645366 1.37e-02 2009.01.20 2009.01.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953526C>G;NG_008866.1:g.34187C>G;NM_000540.2:c.2578-537C>G;NM_001042723.1:c.2578-537C>G 228135610 77439497 pilot_1_YRI_9945293_chr19_43645366 1.37e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38953532_38953533insTTT;NG_008866.1:g.34193_34194insTTT;NM_000540.2:c.2578-531_2578-530insTTT;NM_001042723.1:c.2578-531_2578-530insTTT 15073953 10644425 INDEL_GP34_WGS_163491 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38953532_38953533insTTT;NG_008866.1:g.34193_34194insTTT;NM_000540.2:c.2578-531_2578-530insTTT;NM_001042723.1:c.2578-531_2578-530insTTT 99379594 10644425 INDEL_GP36_2007a_461697_0 2008.05.05 2008.05.05 2003.12.05 2012.05.11 137 PJP 6261 NC_000019.9:g.38953532_38953533insTTT;NG_008866.1:g.34193_34194insTTT;NM_000540.2:c.2578-531_2578-530insTTT;NM_001042723.1:c.2578-531_2578-530insTTT 294962532 10644425 DIP_400236_chr19_43645372 2011.01.22 2011.01.22 2003.12.05 2012.05.11 137 BUSHMAN 6261 NC_000019.9:g.38953634T>G;NG_008866.1:g.34295T>G;NM_000540.2:c.2578-429T>G;NM_001042723.1:c.2578-429T>G 203750851 113501171 BUSHMAN-chr19-43645473 6.00e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953634T>G;NG_008866.1:g.34295T>G;NM_000540.2:c.2578-429T>G;NM_001042723.1:c.2578-429T>G 465586652 113501171 20101123_snps_11753882_chr19_38953634 6.00e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 10920845 7247169 chr19.NT_011109.15_11221995 4.55e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 40976825 7247169 hCV30186272 4.55e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 78685148 7247169 Cor12878_SNV_20070510.chr19_43645617 4.55e-01 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 90969868 7247169 JWB-1168178 4.55e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 132762402 7247169 ENSSNP1527885 4.55e-01 2009.05.12 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 137670298 7247169 ENSSNP11444303 4.55e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 168182875 7247169 NA07022_36_chr19_43645617 4.55e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 169706447 7247169 NA19240_36_chr19_43645617 4.55e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 208545500 7247169 BCM_CMT_1011-3139823 4.55e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 292248476 7247169 SNP_1754834_chr19_43645617 4.55e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953777A>G;NG_008866.1:g.34438A>G;NM_000540.2:c.2578-286A>G;NM_001042723.1:c.2578-286A>G 340454402 7247169 20100804_snps_12097943_chr19_38953777 4.55e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38953781_38953782insC;NG_008866.1:g.34442_34443insC;NM_000540.2:c.2578-282_2578-281insC;NM_001042723.1:c.2578-282_2578-281insC 40970840 34883994 hCV32823841 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38953782_38953783insCCC;NG_008866.1:g.34443_34444insCCC;NM_000540.2:c.2578-281_2578-280insCCC;NM_001042723.1:c.2578-281_2578-280insCCC 15082650 10651983 INDEL_GP34_WGS_172572 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38953782_38953783insCCC;NG_008866.1:g.34443_34444insCCC;NM_000540.2:c.2578-281_2578-280insCCC;NM_001042723.1:c.2578-281_2578-280insCCC 99425946 10651983 INDEL_GP36_2007a_537699_0 2008.05.05 2008.05.05 2003.12.05 2012.05.11 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38953795_38953796insC;NC_000019.9:g.38953795_38953796insCCCCC;NG_008866.1:g.34456_34457insC;NG_008866.1:g.34456_34457insCCCCC;NM_000540.2:c.2578-268_2578-267insC;NM_000540.2:c.2578-268_2578-267insCCCCC;NM_001042723.1:c.2578-268_2578-267insC;NM_001042723.1:c.2578-268_2578-267insCCCCC 95728335 71165551 1104685411599 2008.03.23 2008.12.03 2009.02.13 2012.05.16 137 BCMHGSC_JDW 6261 NC_000019.9:g.38953795_38953796insC;NC_000019.9:g.38953795_38953796insCCCCC;NG_008866.1:g.34456_34457insC;NG_008866.1:g.34456_34457insCCCCC;NM_000540.2:c.2578-268_2578-267insC;NM_000540.2:c.2578-268_2578-267insCCCCC;NM_001042723.1:c.2578-268_2578-267insC;NM_001042723.1:c.2578-268_2578-267insCCCCC 103848656 71165551 JWB-4183135 2008.06.07 2009.05.12 2009.02.13 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38953795C>A;NG_008866.1:g.34456C>A;NM_000540.2:c.2578-268C>A;NM_001042723.1:c.2578-268C>A 203750852 112625078 BUSHMAN-chr19-43645634 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38953809A>G;NG_008866.1:g.34470A>G;NM_000540.2:c.2578-254A>G;NM_001042723.1:c.2578-254A>G 243880922 118128821 pilot_1_CHB+JPT_5765999_chr19_43645649 5.40e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38953839C>T;NG_008866.1:g.34500C>T;NM_000540.2:c.2578-224C>T;NM_001042723.1:c.2578-224C>T 465586653 190928637 20101123_snps_11753883_chr19_38953839 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38953841G>T;NG_008866.1:g.34502G>T;NM_000540.2:c.2578-222G>T;NM_001042723.1:c.2578-222G>T 115120125 73540974 NA19240_2008_12_16_3257556_chr19_43645681 3.70e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953841G>T;NG_008866.1:g.34502G>T;NM_000540.2:c.2578-222G>T;NM_001042723.1:c.2578-222G>T 169706462 73540974 NA19240_36_chr19_43645681 3.70e-03 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953841G>T;NG_008866.1:g.34502G>T;NM_000540.2:c.2578-222G>T;NM_001042723.1:c.2578-222G>T 340454403 73540974 20100804_snps_12097944_chr19_38953841 3.70e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953953G>A;NG_008866.1:g.34614G>A;NM_000540.2:c.2578-110G>A;NM_001042723.1:c.2578-110G>A 211962550 116826057 YRI.trio.3.2010_1440213_chr19_43645793 9.60e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953953G>A;NG_008866.1:g.34614G>A;NM_000540.2:c.2578-110G>A;NM_001042723.1:c.2578-110G>A 465586654 116826057 20101123_snps_11753884_chr19_38953953 9.60e-03 2011.07.20 2011.07.20 2010.07.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953983C>T;NG_008866.1:g.34644C>T;NM_000540.2:c.2578-80C>T;NM_001042723.1:c.2578-80C>T 171754233 113361092 NA20431_36_chr19_43645823 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 3250962 2304148 IMS-JST061047 1.70e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 6628604 2304148 NT_011109.13_1109011 1.70e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 14703491 2304148 chr19.NT_011109.15_11222214 1.70e-01 2003.11.10 2004.04.07 2001.09.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 20063570 2304148 CSHL-HuFF-200402.chr19.NT_011109.15_11222214 1.70e-01 2004.02.22 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 23763101 2304148 afd4609478 1.70e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 66556888 2304148 HumanHap300v1.1_rs2304148 1.70e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 67245112 2304148 HumanHap550v1.1_rs2304148 1.70e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 67642121 2304148 HumanHap650Yv1.0_rs2304148 1.70e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 69228159 2304148 PGP04609478 1.70e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 70723446 2304148 HumanHap550v3.0__rs2304148 1.70e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 71292035 2304148 HumanHap650Yv3.0_rs2304148 1.70e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 75613602 2304148 ILMN_Human_1M_rs2304148 1.70e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 76888831 2304148 NT_011109.15_11222214 1.70e-01 2007.09.20 2007.09.20 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 78108850 2304148 Cor12878_SNV_20070510.chr19_43645836 1.70e-01 2007.10.17 2007.10.17 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 79128735 2304148 HumanHap300v2.0_rs2304148 1.70e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 84030352 2304148 KHS607126 1.70e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 90969870 2304148 JWB-1168179 1.70e-01 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 96266964 2304148 1103691141784 1.70e-01 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 106055020 2304148 BGI_rs2304148 1.70e-01 2008.09.13 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 111365331 2304148 CEU.trio.12.15.2008_3616603_chr19_43645836 1.70e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 115120136 2304148 NA19240_2008_12_16_3257557_chr19_43645836 1.70e-01 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 121998238 2304148 HumanCNV370v1_C_rs2304148 1.70e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 136267566 2304148 ENSSNP1527886 1.70e-01 2009.05.15 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 137670300 2304148 ENSSNP11444304 1.70e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 153902464 2304148 Human610_Quadv1_B_rs2304148-128_B_R_1501728934 1.70e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 155887502 2304148 GMI_SNP_120579998 1.70e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 159380269 2304148 Human660W-Quad_v1_A_rs2304148-128_B_R_1501728934 1.70e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 160534161 2304148 HumanOmni1-Quad_v1-0_B_rs2304148-128_B_R_1512091287 1.70e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 168182886 2304148 NA07022_36_chr19_43645836 1.70e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 171185004 2304148 HumanCNV370-Quadv3_C_rs2304148-128_B_R_1501728934 1.70e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 171754240 2304148 NA20431_36_chr19_43645836 1.70e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 173278213 2304148 Human1M-Duov3_B_rs2304148-128_B_R_1501728934 1.70e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 203750853 2304148 BUSHMAN-chr19-43645835 1.70e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 208392602 2304148 BCM_CMT_1011-3088463 1.70e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 228135611 2304148 pilot_1_YRI_9945294_chr19_43645836 1.70e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 237674115 2304148 pilot_1_CEU_7278744_chr19_43645836 1.70e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 243880923 2304148 pilot_1_CHB+JPT_5766000_chr19_43645836 1.70e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 255668257 2304148 SNP49597_19_43645836 1.70e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 283205893 2304148 GMI_AK_SNP_7526314 1.70e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 292248477 2304148 SNP_1754835_chr19_43645836 1.70e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 480524346 2304148 HumanOmni2.5-4v1_B_rs2304148-128_B_R_1782949529 1.70e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 480540230 2304148 HumanOmniExpress-12v1_C_rs2304148-131_B_R_1857201277 1.70e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 481351038 2304148 HumanOmni1-Quad_v1-0_C_rs2304148-131_B_R_1865516332 1.70e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38953996A>G;NG_008866.1:g.34657A>G;NM_000540.2:c.2578-67A>G;NM_001042723.1:c.2578-67A>G 485059417 2304148 HumanOmni2.5-4v1_D_rs2304148-131_B_R_1857201277 1.70e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 3250963 2304149 IMS-JST061048 1.19e-02 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 24195779 2304149 afd4586298 1.19e-02 germline untested 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 283205894 2304149 GMI_AK_SNP_7526315 1.19e-02 unknown untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 340454404 2304149 20100804_snps_12097945_chr19_38954040 1.19e-02 germline untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2578-23C>G NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 475871489 2304149 RYR1_00343 1.19e-02 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954040C>G;NG_008866.1:g.34701C>G;NM_000540.2:c.2578-23C>G;NM_001042723.1:c.2578-23C>G 491157942 2304149 20110521_exome_665740_chr19_38954040 1.19e-02 unknown untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954073C>T;NG_008866.1:g.34734C>T;NM_000540.2:c.2588C>T;NM_001042723.1:c.2588C>T;NP_000531.2:p.Pro863Leu;NP_001036188.1:p.Pro863Leu 342496413 145456934 ESP2500-chr19-38954073 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.38954077C>T;NG_008866.1:g.34738C>T;NM_000540.2:c.2592C>T;NM_001042723.1:c.2592C>T;NP_000531.2:p.Pro864=;NP_001036188.1:p.Pro864= 491766147 199541173 SNV-chr19-43645917 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954087C>T;NG_008866.1:g.34748C>T;NM_000540.2:c.2602C>T;NM_001042723.1:c.2602C>T;NP_000531.2:p.Arg868Cys;NP_001036188.1:p.Arg868Cys 342496414 138020885 ESP2500-chr19-38954087 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38954107G>A;NG_008866.1:g.34768G>A;NM_000540.2:c.2622G>A;NM_001042723.1:c.2622G>A;NP_000531.2:p.Ala874=;NP_001036188.1:p.Ala874= 342496415 149381996 ESP2500-chr19-38954107 1.40e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954107G>A;NG_008866.1:g.34768G>A;NM_000540.2:c.2622G>A;NM_001042723.1:c.2622G>A;NP_000531.2:p.Ala874=;NP_001036188.1:p.Ala874= 489164396 149381996 20110521_exome_255591_chr19_38954107 1.40e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954119C>T;NG_008866.1:g.34780C>T;NM_000540.2:c.2634C>T;NM_001042723.1:c.2634C>T;NP_000531.2:p.His878=;NP_001036188.1:p.His878= 489164398 202233201 20110521_exome_255592_chr19_38954119 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954130C>T;NG_008866.1:g.34791C>T;NM_000540.2:c.2645C>T;NM_001042723.1:c.2645C>T;NP_000531.2:p.Ala882Val;NP_001036188.1:p.Ala882Val 342496416 143701391 ESP2500-chr19-38954130 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38954130C>T;NG_008866.1:g.34791C>T;NM_000540.2:c.2645C>T;NM_001042723.1:c.2645C>T;NP_000531.2:p.Ala882Val;NP_001036188.1:p.Ala882Val 491546431 143701391 nonsyn_262657_chr_19_38954130 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954143C>T;NG_008866.1:g.34804C>T;NM_000540.2:c.2658C>T;NM_001042723.1:c.2658C>T;NP_000531.2:p.Ile886=;NP_001036188.1:p.Ile886= 342496417 148094797 ESP2500-chr19-38954143 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38954147C>T;NG_008866.1:g.34808C>T;NM_000540.2:c.2662C>T;NM_001042723.1:c.2662C>T;NP_000531.2:p.Gln888Ter;NP_001036188.1:p.Gln888Ter 342496418 141838633 ESP2500-chr19-38954147 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38954162G>A;NG_008866.1:g.34823G>A;NM_000540.2:c.2677G>A;NM_001042723.1:c.2677G>A;NP_000531.2:p.Gly893Ser;NP_001036188.1:p.Gly893Ser 342496419 147336515 ESP2500-chr19-38954162 1.40e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954162G>A;NG_008866.1:g.34823G>A;NM_000540.2:c.2677G>A;NM_001042723.1:c.2677G>A;NP_000531.2:p.Gly893Ser;NP_001036188.1:p.Gly893Ser 465586655 147336515 20101123_snps_11753885_chr19_38954162 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954162G>A;NG_008866.1:g.34823G>A;NM_000540.2:c.2677G>A;NM_001042723.1:c.2677G>A;NP_000531.2:p.Gly893Ser;NP_001036188.1:p.Gly893Ser 491157943 147336515 20110521_exome_665741_chr19_38954162 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38954162G>A;NG_008866.1:g.34823G>A;NM_000540.2:c.2677G>A;NM_001042723.1:c.2677G>A;NP_000531.2:p.Gly893Ser;NP_001036188.1:p.Gly893Ser 491546432 147336515 nonsyn_262658_chr_19_38954162 1.40e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954164C>G;NG_008866.1:g.34825C>G;NM_000540.2:c.2679C>G;NM_001042723.1:c.2679C>G;NP_000531.2:p.Gly893=;NP_001036188.1:p.Gly893= 342496420 141030411 ESP2500-chr19-38954164 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38954165C>A;NG_008866.1:g.34826C>A;NM_000540.2:c.2680C>A;NM_001042723.1:c.2680C>A;NP_000531.2:p.Pro894Thr;NP_001036188.1:p.Pro894Thr 203750854 111976711 BUSHMAN-chr19-43646004 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38954165C>A;NG_008866.1:g.34826C>A;NM_000540.2:c.2680C>A;NM_001042723.1:c.2680C>A;NP_000531.2:p.Pro894Thr;NP_001036188.1:p.Pro894Thr 342496421 111976711 ESP2500-chr19-38954165 2011.03.27 2011.03.27 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38954174G>A;NG_008866.1:g.34835G>A;NM_000540.2:c.2682+7G>A;NM_001042723.1:c.2682+7G>A 489164400 201498416 20110521_exome_255593_chr19_38954174 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38954174G>A;NG_008866.1:g.34835G>A;NM_000540.2:c.2682+7G>A;NM_001042723.1:c.2682+7G>A 491766148 201498416 SNV-chr19-43646014 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954191G>A;NG_008866.1:g.34852G>A;NM_000540.2:c.2682+24G>A;NM_001042723.1:c.2682+24G>A 489164402 200235370 20110521_exome_255594_chr19_38954191 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38954198C>T;NG_008866.1:g.34859C>T;NM_000540.2:c.2682+31C>T;NM_001042723.1:c.2682+31C>T 203750855 112545072 BUSHMAN-chr19-43646037 5.00e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954198C>T;NG_008866.1:g.34859C>T;NM_000540.2:c.2682+31C>T;NM_001042723.1:c.2682+31C>T 489164404 112545072 20110521_exome_255595_chr19_38954198 5.00e-03 2012.02.14 2012.02.14 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954240G>A;NG_008866.1:g.34901G>A;NM_000540.2:c.2682+73G>A;NM_001042723.1:c.2682+73G>A 465586656 190617867 20101123_snps_11753886_chr19_38954240 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 6261 NC_000019.9:g.38954391G>A;NG_008866.1:g.35052G>A;NM_000540.2:c.2687G>A;NM_001042723.1:c.2687G>A;NP_000531.2:p.Arg896Gln;NP_001036188.1:p.Arg896Gln 342496422 147515913 ESP2500-chr19-38954391 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38954391G>A;NG_008866.1:g.35052G>A;NM_000540.2:c.2687G>A;NM_001042723.1:c.2687G>A;NP_000531.2:p.Arg896Gln;NP_001036188.1:p.Arg896Gln 491546433 147515913 nonsyn_262659_chr_19_38954391 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38954401C>A;NG_008866.1:g.35062C>A;NM_000540.2:c.2697C>A;NM_001042723.1:c.2697C>A;NP_000531.2:p.Asn899Lys;NP_001036188.1:p.Asn899Lys 491766149 201401814 SNV-chr19-43646241 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954416G>A;NG_008866.1:g.35077G>A;NM_000540.2:c.2712G>A;NM_001042723.1:c.2712G>A;NP_000531.2:p.Pro904=;NP_001036188.1:p.Pro904= 342496423 139339574 ESP2500-chr19-38954416 5.00e-04 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954416G>A;NG_008866.1:g.35077G>A;NM_000540.2:c.2712G>A;NM_001042723.1:c.2712G>A;NP_000531.2:p.Pro904=;NP_001036188.1:p.Pro904= 465586657 139339574 20101123_snps_11753887_chr19_38954416 5.00e-04 germline untested 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2712G>A NC_000019.9:g.38954416G>A;NG_008866.1:g.35077G>A;NM_000540.2:c.2712G>A;NM_001042723.1:c.2712G>A;NP_000531.2:p.Pro904=;NP_001036188.1:p.Pro904= 475871490 139339574 RYR1_00273 5.00e-04 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954416G>A;NG_008866.1:g.35077G>A;NM_000540.2:c.2712G>A;NM_001042723.1:c.2712G>A;NP_000531.2:p.Pro904=;NP_001036188.1:p.Pro904= 491157944 139339574 20110521_exome_665742_chr19_38954416 5.00e-04 unknown untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954471A>G;NG_008866.1:g.35132A>G;NM_000540.2:c.2767A>G;NM_001042723.1:c.2767A>G;NP_000531.2:p.Met923Val;NP_001036188.1:p.Met923Val 342496424 149913097 ESP2500-chr19-38954471 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954471A>G;NG_008866.1:g.35132A>G;NM_000540.2:c.2767A>G;NM_001042723.1:c.2767A>G;NP_000531.2:p.Met923Val;NP_001036188.1:p.Met923Val 465586658 149913097 20101123_snps_11753888_chr19_38954471 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38954471A>G;NG_008866.1:g.35132A>G;NM_000540.2:c.2767A>G;NM_001042723.1:c.2767A>G;NP_000531.2:p.Met923Val;NP_001036188.1:p.Met923Val 491546434 149913097 nonsyn_262660_chr_19_38954471 9.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38954473G>A;NG_008866.1:g.35134G>A;NM_000540.2:c.2769G>A;NM_001042723.1:c.2769G>A;NP_000531.2:p.Met923Ile;NP_001036188.1:p.Met923Ile 342496425 144935444 ESP2500-chr19-38954473 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38954510G>A;NG_008866.1:g.35171G>A;NM_000540.2:c.2786+20G>A;NM_001042723.1:c.2786+20G>A 96266965 71337552 1103691141785 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38954510G>A;NG_008866.1:g.35171G>A;NM_000540.2:c.2786+20G>A;NM_001042723.1:c.2786+20G>A 144047546 71337552 ENSSNP4427559 2009.06.06 2009.10.20 2009.02.13 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38954535G>A;NG_008866.1:g.35196G>A;NM_000540.2:c.2786+45G>A;NM_001042723.1:c.2786+45G>A 203750856 111329688 BUSHMAN-chr19-43646374 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954574G>C;NG_008866.1:g.35235G>C;NM_000540.2:c.2786+84G>C;NM_001042723.1:c.2786+84G>C 465586659 192516524 20101123_snps_11753889_chr19_38954574 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 111365339 67515748 CEU.trio.12.15.2008_3616604_chr19_43646459 7.83e-02 2008.12.17 2008.12.17 2009.02.06 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 115120140 67515748 NA19240_2008_12_16_3257558_chr19_43646459 7.83e-02 2008.12.19 2008.12.19 2009.02.06 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 117702500 67515748 NA18507_000043844_NCBI36.1_chr19_43646459 7.83e-02 2009.01.20 2009.01.20 2009.02.06 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 203750857 67515748 BUSHMAN-chr19-43646458 7.83e-02 2010.03.09 2010.03.09 2009.02.06 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 208460925 67515748 BCM_CMT_1011-3111171 7.83e-02 2010.03.19 2010.03.19 2009.02.06 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 228135612 67515748 pilot_1_YRI_9945295_chr19_43646459 7.83e-02 2010.04.22 2010.04.22 2009.02.06 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954619T>G;NG_008866.1:g.35280T>G;NM_000540.2:c.2786+129T>G;NM_001042723.1:c.2786+129T>G 237674116 67515748 pilot_1_CEU_7278745_chr19_43646459 7.83e-02 2010.05.01 2010.05.01 2009.02.06 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954627T>C;NG_008866.1:g.35288T>C;NM_000540.2:c.2786+137T>C;NM_001042723.1:c.2786+137T>C 340454405 149654295 20100804_snps_12097946_chr19_38954627 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954639G>A;NG_008866.1:g.35300G>A;NM_000540.2:c.2786+149G>A;NM_001042723.1:c.2786+149G>A 228135613 116470911 pilot_1_YRI_9945296_chr19_43646479 1.92e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954646G>A;NG_008866.1:g.35307G>A;NM_000540.2:c.2786+156G>A;NM_001042723.1:c.2786+156G>A 340454406 147809889 20100804_snps_12097947_chr19_38954646 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38954654C>G;NG_008866.1:g.35315C>G;NM_000540.2:c.2786+164C>G;NM_001042723.1:c.2786+164C>G 137670303 77129949 ENSSNP11444305 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954688G>T;NG_008866.1:g.35349G>T;NM_000540.2:c.2786+198G>T;NM_001042723.1:c.2786+198G>T 340454407 141219411 20100804_snps_12097948_chr19_38954688 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38954737C>T;NG_008866.1:g.35398C>T;NM_000540.2:c.2786+247C>T;NM_001042723.1:c.2786+247C>T 169706483 111370077 NA19240_36_chr19_43646577 3.70e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954737C>T;NG_008866.1:g.35398C>T;NM_000540.2:c.2786+247C>T;NM_001042723.1:c.2786+247C>T 340454408 111370077 20100804_snps_12097949_chr19_38954737 3.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38954746G>A;NG_008866.1:g.35407G>A;NM_000540.2:c.2786+256G>A;NM_001042723.1:c.2786+256G>A 340454409 147924726 20100804_snps_12097950_chr19_38954746 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38954748C>T;NG_008866.1:g.35409C>T;NM_000540.2:c.2786+258C>T;NM_001042723.1:c.2786+258C>T 77139319 55874366 Cor12156_SNV_20070510.chr19_43646588 2007.10.09 2007.10.11 2007.12.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.38954750C>T;NG_008866.1:g.35411C>T;NM_000540.2:c.2786+260C>T;NM_001042723.1:c.2786+260C>T 77531371 55894715 Cor12156_SNV_20070510.chr19_43646590 2007.10.13 2007.10.13 2007.12.06 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38954762C>G;NG_008866.1:g.35423C>G;NM_000540.2:c.2786+272C>G;NM_001042723.1:c.2786+272C>G 465586660 182599549 20101123_snps_11753890_chr19_38954762 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38954788A>G;NG_008866.1:g.35449A>G;NM_000540.2:c.2786+298A>G;NM_001042723.1:c.2786+298A>G 465586661 188026427 20101123_snps_11753891_chr19_38954788 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38954865C>T;NG_008866.1:g.35526C>T;NM_000540.2:c.2786+375C>T;NM_001042723.1:c.2786+375C>T 203750858 112705008 BUSHMAN-chr19-43646704 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38954881C>T;NG_008866.1:g.35542C>T;NM_000540.2:c.2786+391C>T;NM_001042723.1:c.2786+391C>T 340454410 148973870 20100804_snps_12097951_chr19_38954881 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38954919delA;NC_000019.9:g.38954919delAinsAAAAA;NC_000019.9:g.38954919delAinsAAAAAAAAAAAA;NG_008866.1:g.35580delA;NG_008866.1:g.35580delAinsAAAAA;NG_008866.1:g.35580delAinsAAAAAAAAAAAA;NM_000540.2:c.2787-360delA;NM_000540.2:c.2787-360delAinsAAAAA;NM_000540.2:c.2787-360delAinsAAAAAAAAAAAA;NM_001042723.1:c.2787-360delA;NM_001042723.1:c.2787-360delAinsAAAAA;NM_001042723.1:c.2787-360delAinsAAAAAAAAAAAA 15029393 10604899 INDEL_GP34_WGS_114359 2003.11.13 2003.11.22 2003.12.05 2012.05.16 137 HGSV 6261 NC_000019.9:g.38954919_38954923delAAAAA;NG_008866.1:g.35580_35584delAAAAA;NM_000540.2:c.2787-360_2787-356delAAAAA;NM_001042723.1:c.2787-360_2787-356delAAAAA 77848722 56229360 Cor12156_DIV_20070510.chr19_43646784-43646790_1 2007.10.15 2007.10.15 2007.12.07 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38954919delA;NC_000019.9:g.38954919delAinsAAAAA;NC_000019.9:g.38954919delAinsAAAAAAAAAAAA;NG_008866.1:g.35580delA;NG_008866.1:g.35580delAinsAAAAA;NG_008866.1:g.35580delAinsAAAAAAAAAAAA;NM_000540.2:c.2787-360delA;NM_000540.2:c.2787-360delAinsAAAAA;NM_000540.2:c.2787-360delAinsAAAAAAAAAAAA;NM_001042723.1:c.2787-360delA;NM_001042723.1:c.2787-360delAinsAAAAA;NM_001042723.1:c.2787-360delAinsAAAAAAAAAAAA 99454001 10604899 INDEL_GP36_2007a_507307_0 2008.05.05 2008.05.05 2003.12.05 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38954919delA;NC_000019.9:g.38954919delAinsAAAAA;NC_000019.9:g.38954919delAinsAAAAAAAAAAAA;NG_008866.1:g.35580delA;NG_008866.1:g.35580delAinsAAAAA;NG_008866.1:g.35580delAinsAAAAAAAAAAAA;NM_000540.2:c.2787-360delA;NM_000540.2:c.2787-360delAinsAAAAA;NM_000540.2:c.2787-360delAinsAAAAAAAAAAAA;NM_001042723.1:c.2787-360delA;NM_001042723.1:c.2787-360delAinsAAAAA;NM_001042723.1:c.2787-360delAinsAAAAAAAAAAAA 100568111 10604899 INDEL_GP36_2008a_1673954_0 2008.05.16 2008.05.16 2003.12.05 2012.05.16 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38954939A>G;NG_008866.1:g.35600A>G;NM_000540.2:c.2787-340A>G;NM_001042723.1:c.2787-340A>G 168182898 111915207 NA07022_36_chr19_43646779 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38954943A>G;NG_008866.1:g.35604A>G;NM_000540.2:c.2787-336A>G;NM_001042723.1:c.2787-336A>G 137670306 79105202 ENSSNP11444306 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 BL 6261 NC_000019.9:g.38954950G>A;NC_000019.9:g.38954950G>C;NC_000019.9:g.38954950G>T;NG_008866.1:g.35611G>A;NG_008866.1:g.35611G>C;NG_008866.1:g.35611G>T;NM_000540.2:c.2787-329G>A;NM_000540.2:c.2787-329G>C;NM_000540.2:c.2787-329G>T;NM_001042723.1:c.2787-329G>A;NM_001042723.1:c.2787-329G>C;NM_001042723.1:c.2787-329G>T 255668262 141682850 SNP49598_19_43646790 2010.08.20 2010.08.20 2011.05.09 2013.02.07 137 ILLUMINA 6261 NC_000019.9:g.38954950G>A;NC_000019.9:g.38954950G>C;NC_000019.9:g.38954950G>T;NG_008866.1:g.35611G>A;NG_008866.1:g.35611G>C;NG_008866.1:g.35611G>T;NM_000540.2:c.2787-329G>A;NM_000540.2:c.2787-329G>C;NM_000540.2:c.2787-329G>T;NM_001042723.1:c.2787-329G>A;NM_001042723.1:c.2787-329G>C;NM_001042723.1:c.2787-329G>T 482668505 141682850 HumanOmni2.5-4v1_D_kgp22755316-0_B_R_1860483467 2012.02.01 2012.02.01 2011.05.09 2013.02.07 137 ILLUMINA 6261 NC_000019.9:g.38954950G>A;NC_000019.9:g.38954950G>C;NC_000019.9:g.38954950G>T;NG_008866.1:g.35611G>A;NG_008866.1:g.35611G>C;NG_008866.1:g.35611G>T;NM_000540.2:c.2787-329G>A;NM_000540.2:c.2787-329G>C;NM_000540.2:c.2787-329G>T;NM_001042723.1:c.2787-329G>A;NM_001042723.1:c.2787-329G>C;NM_001042723.1:c.2787-329G>T 483825901 141682850 HumanOmni2.5-4v1_B_SNP19-43646790-0_B_R_1647511338 2012.02.03 2012.02.03 2011.05.09 2013.02.07 137 1000GENOMES 6261 NC_000019.9:g.38954952_38954954delAGC;NG_008866.1:g.35613_35615delAGC;NM_000540.2:c.2787-327_2787-325delAGC;NM_001042723.1:c.2787-327_2787-325delAGC 328032193 150621346 CEU_chr19_43646791_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955014A>G;NG_008866.1:g.35675A>G;NM_000540.2:c.2787-265A>G;NM_001042723.1:c.2787-265A>G 211962552 75609634 YRI.trio.3.2010_1440214_chr19_43646854 3.48e-02 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38955014A>G;NG_008866.1:g.35675A>G;NM_000540.2:c.2787-265A>G;NM_001042723.1:c.2787-265A>G 228135614 75609634 pilot_1_YRI_9945297_chr19_43646854 3.48e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38955101C>T;NG_008866.1:g.35762C>T;NM_000540.2:c.2787-178C>T;NM_001042723.1:c.2787-178C>T 465586662 192507454 20101123_snps_11753892_chr19_38955101 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38955106G>A;NG_008866.1:g.35767G>A;NM_000540.2:c.2787-173G>A;NM_001042723.1:c.2787-173G>A 465586663 185019871 20101123_snps_11753893_chr19_38955106 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38955202A>T;NG_008866.1:g.35863A>T;NM_000540.2:c.2787-77A>T;NM_001042723.1:c.2787-77A>T 340454411 143827627 20100804_snps_12097952_chr19_38955202 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955213G>A;NG_008866.1:g.35874G>A;NM_000540.2:c.2787-66G>A;NM_001042723.1:c.2787-66G>A 111365347 73044999 CEU.trio.12.15.2008_3616605_chr19_43647053 5.00e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38955213G>A;NG_008866.1:g.35874G>A;NM_000540.2:c.2787-66G>A;NM_001042723.1:c.2787-66G>A 208502945 73044999 BCM_CMT_1011-3125340 5.00e-03 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955213G>A;NG_008866.1:g.35874G>A;NM_000540.2:c.2787-66G>A;NM_001042723.1:c.2787-66G>A 340454412 73044999 20100804_snps_12097953_chr19_38955213 5.00e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955217G>A;NG_008866.1:g.35878G>A;NM_000540.2:c.2787-62G>A;NM_001042723.1:c.2787-62G>A 340454413 140939359 20100804_snps_12097954_chr19_38955217 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955238C>G;NG_008866.1:g.35899C>G;NM_000540.2:c.2787-41C>G;NM_001042723.1:c.2787-41C>G 340454414 144985735 20100804_snps_12097955_chr19_38955238 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955238C>G;NG_008866.1:g.35899C>G;NM_000540.2:c.2787-41C>G;NM_001042723.1:c.2787-41C>G 491157945 144985735 20110521_exome_665743_chr19_38955238 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38955289G>A;NG_008866.1:g.35950G>A;NM_000540.2:c.2797G>A;NM_001042723.1:c.2797G>A;NP_000531.2:p.Ala933Thr;NP_001036188.1:p.Ala933Thr 342496426 148623597 ESP2500-chr19-38955289 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38955289G>A;NG_008866.1:g.35950G>A;NM_000540.2:c.2797G>A;NM_001042723.1:c.2797G>A;NP_000531.2:p.Ala933Thr;NP_001036188.1:p.Ala933Thr 491546435 148623597 nonsyn_262661_chr_19_38955289 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38955362C>T;NG_008866.1:g.36023C>T;NM_000540.2:c.2870C>T;NM_001042723.1:c.2870C>T;NP_000531.2:p.Thr957Met;NP_001036188.1:p.Thr957Met 491546436 201827275 splice_262662_chr_19_38955362 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38955381G>A;NG_008866.1:g.36042G>A;NM_000540.2:c.2870+19G>A;NM_001042723.1:c.2870+19G>A 211962554 114529901 YRI.trio.3.2010_1440215_chr19_43647221 5.50e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955381G>A;NG_008866.1:g.36042G>A;NM_000540.2:c.2870+19G>A;NM_001042723.1:c.2870+19G>A 340454415 114529901 20100804_snps_12097956_chr19_38955381 5.50e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955381G>A;NG_008866.1:g.36042G>A;NM_000540.2:c.2870+19G>A;NM_001042723.1:c.2870+19G>A 491157946 114529901 20110521_exome_665744_chr19_38955381 5.50e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38955466G>A;NG_008866.1:g.36127G>A;NM_000540.2:c.2870+104G>A;NM_001042723.1:c.2870+104G>A 203750859 111233484 BUSHMAN-chr19-43647305 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955500T>G;NG_008866.1:g.36161T>G;NM_000540.2:c.2870+138T>G;NM_001042723.1:c.2870+138T>G 340454416 142016637 20100804_snps_12097957_chr19_38955500 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955504G>A;NG_008866.1:g.36165G>A;NM_000540.2:c.2870+142G>A;NM_001042723.1:c.2870+142G>A 340454417 145675775 20100804_snps_12097958_chr19_38955504 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 3250964 2304150 IMS-JST061049 4.06e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 23763106 2304150 afd4176686 4.06e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 66644922 2304150 HumanHap300v1.1_rs2304150 4.06e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 67245113 2304150 HumanHap550v1.1_rs2304150 4.06e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 67642122 2304150 HumanHap650Yv1.0_rs2304150 4.06e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 69228160 2304150 PGP04176686 4.06e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 70723447 2304150 HumanHap550v3.0__rs2304150 4.06e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 71292036 2304150 HumanHap650Yv3.0_rs2304150 4.06e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 75531046 2304150 ILMN_Human_1M_rs2304150 4.06e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 78430484 2304150 Cor12878_SNV_20070510.chr19_43647423 4.06e-01 2007.10.19 2007.10.19 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 79128736 2304150 HumanHap300v2.0_rs2304150 4.06e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 84030354 2304150 KHS607127 4.06e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 96305658 2304150 1103691141786 4.06e-01 2008.03.26 2010.03.07 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 103437730 2304150 BGI_rs2304150 4.06e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 111365355 2304150 CEU.trio.12.15.2008_3616606_chr19_43647423 4.06e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 115120153 2304150 NA19240_2008_12_16_3257560_chr19_43647423 4.06e-01 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 117702503 2304150 NA18507_000043845_NCBI36.1_chr19_43647423 4.06e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 121998244 2304150 HumanCNV370v1_C_rs2304150 4.06e-01 2009.04.15 2009.04.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 142600606 2304150 ENSSNP3796573 4.06e-01 2009.06.05 2009.10.19 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 153902465 2304150 Human610_Quadv1_B_rs2304150-128_B_R_1501719554 4.06e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 155887510 2304150 GMI_SNP_74257263 4.06e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 159380270 2304150 Human660W-Quad_v1_A_rs2304150-128_B_R_1501719554 4.06e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 160534162 2304150 HumanOmni1-Quad_v1-0_B_rs2304150-128_B_R_1501719554 4.06e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 168182908 2304150 NA07022_36_chr19_43647423 4.06e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 169706502 2304150 NA19240_36_chr19_43647423 4.06e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 171185018 2304150 HumanCNV370-Quadv3_C_rs2304150-128_B_R_1501719554 4.06e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 171754249 2304150 NA20431_36_chr19_43647423 4.06e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 173278217 2304150 Human1M-Duov3_B_rs2304150-128_B_R_1501719554 4.06e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 203750860 2304150 BUSHMAN-chr19-43647422 4.06e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 208406467 2304150 BCM_CMT_1011-3093055 4.06e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 228135615 2304150 pilot_1_YRI_9945298_chr19_43647423 4.06e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 237674117 2304150 pilot_1_CEU_7278746_chr19_43647423 4.06e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 243880924 2304150 pilot_1_CHB+JPT_5766001_chr19_43647423 4.06e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 255668268 2304150 SNP49599_19_43647423 4.06e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 283205895 2304150 GMI_AK_SNP_7526316 4.06e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 292248478 2304150 SNP_1754836_chr19_43647423 4.06e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 480524350 2304150 HumanOmni2.5-4v1_B_rs2304150-128_B_R_1782886456 4.06e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 480540235 2304150 HumanOmniExpress-12v1_C_rs2304150-131_B_R_1857201278 4.06e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 481351042 2304150 HumanOmni1-Quad_v1-0_C_rs2304150-131_B_R_1865463429 4.06e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955583G>A;NG_008866.1:g.36244G>A;NM_000540.2:c.2870+221G>A;NM_001042723.1:c.2870+221G>A 485059419 2304150 HumanOmni2.5-4v1_D_rs2304150-131_B_R_1857201278 4.06e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955661G>A;NG_008866.1:g.36322G>A;NM_000540.2:c.2870+299G>A;NM_001042723.1:c.2870+299G>A 228135616 114945956 pilot_1_YRI_9945299_chr19_43647501 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38955745G>A;NG_008866.1:g.36406G>A;NM_000540.2:c.2870+383G>A;NM_001042723.1:c.2870+383G>A 117702505 73930589 NA18507_000043846_NCBI36.1_chr19_43647585 1.56e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955745G>A;NG_008866.1:g.36406G>A;NM_000540.2:c.2870+383G>A;NM_001042723.1:c.2870+383G>A 228135617 73930589 pilot_1_YRI_9945300_chr19_43647585 1.56e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955745G>A;NG_008866.1:g.36406G>A;NM_000540.2:c.2870+383G>A;NM_001042723.1:c.2870+383G>A 482353265 73930589 HumanOmni2.5-4v1_D_kgp21537172-0_T_F_1844426616 1.56e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38955745G>A;NG_008866.1:g.36406G>A;NM_000540.2:c.2870+383G>A;NM_001042723.1:c.2870+383G>A 483825903 73930589 HumanOmni2.5-4v1_B_SNP19-43647585-0_T_F_1637576997 1.56e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38955776C>T;NG_008866.1:g.36437C>T;NM_000540.2:c.2870+414C>T;NM_001042723.1:c.2870+414C>T 228135618 114498496 pilot_1_YRI_9945301_chr19_43647616 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38955861A>G;NG_008866.1:g.36522A>G;NM_000540.2:c.2870+499A>G;NM_001042723.1:c.2870+499A>G 465586664 189004875 20101123_snps_11753894_chr19_38955861 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38955901A>C;NG_008866.1:g.36562A>C;NM_000540.2:c.2870+539A>C;NM_001042723.1:c.2870+539A>C 465586665 192227153 20101123_snps_11753895_chr19_38955901 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38955975G>T;NG_008866.1:g.36636G>T;NM_000540.2:c.2870+613G>T;NM_001042723.1:c.2870+613G>T 228135619 115467988 pilot_1_YRI_9945302_chr19_43647815 2.29e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956127G>A;NG_008866.1:g.36788G>A;NM_000540.2:c.2871-604G>A;NM_001042723.1:c.2871-604G>A 340454418 138041722 20100804_snps_12097959_chr19_38956127 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 10943185 7259574 chr19.NT_011109.15_11224394 3.85e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 41011146 7259574 hCV11507957 3.85e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 80700463 7259574 Cor18507_SNV_20070510.chr19_43648016 3.85e-01 2007.11.26 2007.11.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 139794942 7259574 ENSSNP3616858 3.85e-01 2009.05.19 2009.10.16 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 155887519 7259574 GMI_SNP_179674276 3.85e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 168182922 7259574 NA07022_36_chr19_43648016 3.85e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 169706526 7259574 NA19240_36_chr19_43648016 3.85e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 171754255 7259574 NA20431_36_chr19_43648016 3.85e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 203750861 7259574 BUSHMAN-chr19-43648015 3.85e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 208556174 7259574 BCM_CMT_1011-3143381 3.85e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 255668274 7259574 SNP49600_19_43648016 3.85e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 283205896 7259574 GMI_AK_SNP_7526317 3.85e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 292248479 7259574 SNP_1754837_chr19_43648016 3.85e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956176G>A;NG_008866.1:g.36837G>A;NM_000540.2:c.2871-555G>A;NM_001042723.1:c.2871-555G>A 340454419 7259574 20100804_snps_12097960_chr19_38956176 3.85e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956194C>T;NG_008866.1:g.36855C>T;NM_000540.2:c.2871-537C>T;NM_001042723.1:c.2871-537C>T 340454420 144146468 20100804_snps_12097961_chr19_38956194 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38956203G>A;NG_008866.1:g.36864G>A;NM_000540.2:c.2871-528G>A;NM_001042723.1:c.2871-528G>A 203750862 113362913 BUSHMAN-chr19-43648042 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956297C>T;NG_008866.1:g.36958C>T;NM_000540.2:c.2871-434C>T;NM_001042723.1:c.2871-434C>T 169706544 111938433 NA19240_36_chr19_43648137 2.30e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956297C>T;NG_008866.1:g.36958C>T;NM_000540.2:c.2871-434C>T;NM_001042723.1:c.2871-434C>T 340454421 111938433 20100804_snps_12097962_chr19_38956297 2.30e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956305G>A;NG_008866.1:g.36966G>A;NM_000540.2:c.2871-426G>A;NM_001042723.1:c.2871-426G>A 465586666 184782764 20101123_snps_11753896_chr19_38956305 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956349A>G;NG_008866.1:g.37010A>G;NM_000540.2:c.2871-382A>G;NM_001042723.1:c.2871-382A>G 169706568 112602145 NA19240_36_chr19_43648189 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956378T>C;NG_008866.1:g.37039T>C;NM_000540.2:c.2871-353T>C;NM_001042723.1:c.2871-353T>C 465586667 189585798 20101123_snps_11753897_chr19_38956378 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38956400G>A;NG_008866.1:g.37061G>A;NM_000540.2:c.2871-331G>A;NM_001042723.1:c.2871-331G>A 340454422 142719117 20100804_snps_12097963_chr19_38956400 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA 6261 NC_000019.9:g.38956405A>C;NG_008866.1:g.37066A>C;NM_000540.2:c.2871-326A>C;NM_001042723.1:c.2871-326A>C 483471832 200813918 HumanOmni2.5-4v1_D_kgp5065630-0_B_R_1816473656 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956405A>C;NG_008866.1:g.37066A>C;NM_000540.2:c.2871-326A>C;NM_001042723.1:c.2871-326A>C 483825905 200813918 HumanOmni2.5-4v1_B_SNP19-43648245-0_B_R_1647514359 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956484T>C;NG_008866.1:g.37145T>C;NM_000540.2:c.2871-247T>C;NM_001042723.1:c.2871-247T>C 340454423 147348007 20100804_snps_12097964_chr19_38956484 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956487C>G;NG_008866.1:g.37148C>G;NM_000540.2:c.2871-244C>G;NM_001042723.1:c.2871-244C>G 340454424 139589831 20100804_snps_12097965_chr19_38956487 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956504G>A;NG_008866.1:g.37165G>A;NM_000540.2:c.2871-227G>A;NM_001042723.1:c.2871-227G>A 340454425 145156177 20100804_snps_12097966_chr19_38956504 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956506G>A;NG_008866.1:g.37167G>A;NM_000540.2:c.2871-225G>A;NM_001042723.1:c.2871-225G>A 340454426 147579733 20100804_snps_12097967_chr19_38956506 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38956620G>C;NG_008866.1:g.37281G>C;NM_000540.2:c.2871-111G>C;NM_001042723.1:c.2871-111G>C 228135620 116775180 pilot_1_YRI_9945303_chr19_43648460 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 69378713 45585535 NT_011109.15_11224944 2.34e-02 2007.04.12 2007.04.12 2007.05.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 160687618 45585535 HumanOmni1-Quad_v1-0_B_rs45585535-128_T_R_1577842788 2.34e-02 2009.08.06 2009.10.04 2007.05.18 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 168182937 45585535 NA07022_36_chr19_43648566 2.34e-02 2009.09.30 2009.09.30 2007.05.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 237674119 45585535 pilot_1_CEU_7278748_chr19_43648566 2.34e-02 2010.05.01 2010.05.01 2007.05.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 481964541 45585535 HumanOmni1-Quad_v1-0_C_rs45585535-131_T_R_1863329396 2.34e-02 2012.02.01 2012.02.01 2007.05.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 491157947 45585535 20110521_exome_665745_chr19_38956726 2.34e-02 2012.02.22 2012.02.22 2007.05.18 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38956726C>T;NG_008866.1:g.37387C>T;NM_000540.2:c.2871-5C>T;NM_001042723.1:c.2871-5C>T 491766150 45585535 SNV-chr19-43648566 2.34e-02 2012.03.07 2012.03.13 2007.05.18 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956757C>T;NG_008866.1:g.37418C>T;NM_000540.2:c.2897C>T;NM_001042723.1:c.2897C>T;NP_000531.2:p.Pro966Leu;NP_001036188.1:p.Pro966Leu 342496427 143179371 ESP2500-chr19-38956757 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956764G>A;NG_008866.1:g.37425G>A;NM_000540.2:c.2904G>A;NM_001042723.1:c.2904G>A;NP_000531.2:p.Pro968=;NP_001036188.1:p.Pro968= 342496428 146651758 ESP2500-chr19-38956764 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956764G>A;NG_008866.1:g.37425G>A;NM_000540.2:c.2904G>A;NM_001042723.1:c.2904G>A;NP_000531.2:p.Pro968=;NP_001036188.1:p.Pro968= 489164406 146651758 20110521_exome_255596_chr19_38956764 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956779C>T;NG_008866.1:g.37440C>T;NM_000540.2:c.2919C>T;NM_001042723.1:c.2919C>T;NP_000531.2:p.His973=;NP_001036188.1:p.His973= 340454427 139363830 20100804_snps_12097968_chr19_38956779 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956779C>T;NG_008866.1:g.37440C>T;NM_000540.2:c.2919C>T;NM_001042723.1:c.2919C>T;NP_000531.2:p.His973=;NP_001036188.1:p.His973= 342496429 139363830 ESP2500-chr19-38956779 4.10e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956779C>T;NG_008866.1:g.37440C>T;NM_000540.2:c.2919C>T;NM_001042723.1:c.2919C>T;NP_000531.2:p.His973=;NP_001036188.1:p.His973= 491157948 139363830 20110521_exome_665746_chr19_38956779 4.10e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38956779C>T;NG_008866.1:g.37440C>T;NM_000540.2:c.2919C>T;NM_001042723.1:c.2919C>T;NP_000531.2:p.His973=;NP_001036188.1:p.His973= 491766151 139363830 SNV-chr19-43648619 4.10e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38956793C>T;NG_008866.1:g.37454C>T;NM_000540.2:c.2933C>T;NM_001042723.1:c.2933C>T;NP_000531.2:p.Pro978Leu;NP_001036188.1:p.Pro978Leu 491546437 200124278 nonsyn_262663_chr_19_38956793 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 WIAF-CSNP 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 3172704 2228069 WIAF-12767 4.01e-01 germline untested 2001.06.19 2004.04.07 2001.08.15 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 4931868 2228069 IMS-JST097346 4.01e-01 germline untested 2002.08.01 2003.10.10 2001.08.15 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 16800153 2228069 CSHL-HuAA-200402.chr19.NT_011109.15_11225021 4.01e-01 unknown untested 2004.02.18 2004.03.04 2001.08.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 23763109 2228069 afd4176687 4.01e-01 unknown untested 2004.08.20 2004.09.13 2001.08.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 48430062 2228069 hCV16170492 4.01e-01 unknown untested 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 65745483 2228069 Human1-rs11670429 4.01e-01 germline untested 2006.10.10 2006.10.10 2001.08.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 66071445 2228069 SNP_A-1886428 4.01e-01 germline untested 2006.10.27 2007.08.14 2001.08.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 69376306 2228069 NT_011109.15_11225021 4.01e-01 germline untested 2007.04.12 2008.03.31 2001.08.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 76001787 2228069 AFFY_6_1M_SNP_A-1886428 4.01e-01 unknown untested 2007.08.29 2010.03.07 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 81730862 2228069 KHS131874 4.01e-01 unknown untested 2007.12.01 2007.12.01 2001.08.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 90969873 2228069 JWB-1168180 4.01e-01 germline untested 2008.03.01 2008.03.01 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 103437731 2228069 BGI_rs2228069 4.01e-01 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 111365363 2228069 CEU.trio.12.15.2008_3616607_chr19_43648643 4.01e-01 germline untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 115120163 2228069 NA19240_2008_12_16_3257561_chr19_43648643 4.01e-01 unknown untested 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 137670309 2228069 ENSSNP6274945 4.01e-01 germline untested 2009.05.16 2009.05.16 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 155887524 2228069 GMI_SNP_241229044 4.01e-01 unknown untested 2009.06.24 2009.06.24 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 159739620 2228069 RYR1-43648643 4.01e-01 unknown untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 160517192 2228069 HumanOmni1-Quad_v1-0_B_rs2228069-128_B_R_1562503188 4.01e-01 unknown untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 168182950 2228069 NA07022_36_chr19_43648643 4.01e-01 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 169117082 2228069 Human1M-Duov3_B_GA034477-0_B_R_1533477310 4.01e-01 unknown untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 169706588 2228069 NA19240_36_chr19_43648643 4.01e-01 unknown untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 170251157 2228069 GenomeWideSNP_5_SNP_A-1886428 4.01e-01 unknown untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 171754262 2228069 NA20431_36_chr19_43648643 4.01e-01 germline untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 203750863 2228069 BUSHMAN-chr19-43648642 4.01e-01 germline untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 228135621 2228069 pilot_1_YRI_9945304_chr19_43648643 4.01e-01 germline untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 237674120 2228069 pilot_1_CEU_7278749_chr19_43648643 4.01e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 243880925 2228069 pilot_1_CHB+JPT_5766002_chr19_43648643 4.01e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 255668278 2228069 SNP49601_19_43648643 4.01e-01 germline untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 283205897 2228069 GMI_AK_SNP_7526318 4.01e-01 unknown untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 342496430 2228069 ESP2500-chr19-38956803 4.01e-01 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2943G>A NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 475871491 2228069 RYR1_00046 4.01e-01 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2943G>C NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 475871492 2228069 RYR1_00344 4.01e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 479831025 2228069 HumanOmni2.5-4v1_D_kgp11828396-0_B_R_1816408936 4.01e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 481283053 2228069 HumanOmni1-Quad_v1-0_C_rs2228069-131_B_R_1863422556 4.01e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 483825907 2228069 HumanOmni2.5-4v1_B_SNP19-43648643-0_B_R_1628377004 4.01e-01 unknown untested 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 491157949 2228069 20110521_exome_665747_chr19_38956803 4.01e-01 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38956803G>A;NC_000019.9:g.38956803G>C;NG_008866.1:g.37464G>A;NG_008866.1:g.37464G>C;NM_000540.2:c.2943G>A;NM_000540.2:c.2943G>C;NM_001042723.1:c.2943G>A;NM_001042723.1:c.2943G>C;NP_000531.2:p.Thr981=;NP_001036188.1:p.Thr981= 491766152 2228069 SNV-chr19-43648643 4.01e-01 unknown untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956816C>T;NG_008866.1:g.37477C>T;NM_000540.2:c.2956C>T;NM_001042723.1:c.2956C>T;NP_000531.2:p.Arg986Cys;NP_001036188.1:p.Arg986Cys 342496431 150993059 ESP2500-chr19-38956816 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956816C>T;NG_008866.1:g.37477C>T;NM_000540.2:c.2956C>T;NM_001042723.1:c.2956C>T;NP_000531.2:p.Arg986Cys;NP_001036188.1:p.Arg986Cys 489164408 150993059 20110521_exome_255597_chr19_38956816 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38956816C>T;NG_008866.1:g.37477C>T;NM_000540.2:c.2956C>T;NM_001042723.1:c.2956C>T;NP_000531.2:p.Arg986Cys;NP_001036188.1:p.Arg986Cys 491546438 150993059 nonsyn_262664_chr_19_38956816 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 WIAF-CSNP 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 3172705 2228070 WIAF-12768 2.45e-01 germline untested 2001.06.19 2004.04.07 2001.08.15 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 4931869 2228070 IMS-JST097347 2.45e-01 germline untested 2002.08.01 2003.10.10 2001.08.15 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 20067931 2228070 CSHL-HuFF-200402.chr19.NT_011109.15_11225057 2.45e-01 unknown untested 2004.02.22 2004.03.04 2001.08.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 21523862 2228070 WGSA-200403-chr19.chr19.NT_011109.15_11225057 2.45e-01 unknown untested 2004.03.20 2004.03.20 2001.08.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 48430063 2228070 hCV16170491 2.45e-01 germline untested 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 65737852 2228070 Human1-rs2228070 2.45e-01 unknown untested 2006.10.10 2006.10.10 2001.08.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 69378108 2228070 NT_011109.15_11225057 2.45e-01 germline untested 2007.04.12 2008.03.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 74856075 2228070 ILMN_Human_1M_rs2228070 2.45e-01 germline untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 103437732 2228070 BGI_rs2228070 2.45e-01 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 111365374 2228070 CEU.trio.12.15.2008_3616608_chr19_43648679 2.45e-01 unknown untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 117702507 2228070 NA18507_000043847_NCBI36.1_chr19_43648679 2.45e-01 germline untested 2009.01.20 2009.01.20 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 119421884 2228070 KHS1584131 2.45e-01 germline untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 132762406 2228070 ENSSNP1527888 2.45e-01 unknown untested 2009.05.12 2009.10.15 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 159739621 2228070 RYR1-43648679 2.45e-01 unknown untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 160517193 2228070 HumanOmni1-Quad_v1-0_B_rs2228070-128_B_F_1513895145 2.45e-01 germline untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 168182960 2228070 NA07022_36_chr19_43648679 2.45e-01 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 171754273 2228070 NA20431_36_chr19_43648679 2.45e-01 germline untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 173192211 2228070 Human1M-Duov3_B_rs2228070-128_B_F_1513895145 2.45e-01 germline untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 203750864 2228070 BUSHMAN-chr19-43648678 2.45e-01 germline untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 208529024 2228070 BCM_CMT_1011-3134345 2.45e-01 unknown untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 228135622 2228070 pilot_1_YRI_9945305_chr19_43648679 2.45e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 237674121 2228070 pilot_1_CEU_7278750_chr19_43648679 2.45e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 243880926 2228070 pilot_1_CHB+JPT_5766003_chr19_43648679 2.45e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 283205898 2228070 GMI_AK_SNP_7526319 2.45e-01 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 342496432 2228070 ESP2500-chr19-38956839 2.45e-01 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2979C>T NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 475871493 2228070 RYR1_00047 2.45e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 480471622 2228070 HumanOmni2.5-4v1_B_rs2228070-128_B_F_1773492668 2.45e-01 unknown untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 480485957 2228070 HumanOmniExpress-12v1_C_rs2228070-131_B_F_1857157209 2.45e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 481283057 2228070 HumanOmni1-Quad_v1-0_C_rs2228070-131_B_F_1857157209 2.45e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 485033286 2228070 HumanOmni2.5-4v1_D_rs2228070-131_B_F_1857157209 2.45e-01 germline untested 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 491157950 2228070 20110521_exome_665748_chr19_38956839 2.45e-01 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38956839C>T;NG_008866.1:g.37500C>T;NM_000540.2:c.2979C>T;NM_001042723.1:c.2979C>T;NP_000531.2:p.Asn993=;NP_001036188.1:p.Asn993= 491766153 2228070 SNV-chr19-43648679 2.45e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956855C>T;NG_008866.1:g.37516C>T;NM_000540.2:c.2995C>T;NM_001042723.1:c.2995C>T;NP_000531.2:p.Arg999Cys;NP_001036188.1:p.Arg999Cys 342496433 150442096 ESP2500-chr19-38956855 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38956856G>A;NG_008866.1:g.37517G>A;NM_000540.2:c.2996G>A;NM_001042723.1:c.2996G>A;NP_000531.2:p.Arg999His;NP_001036188.1:p.Arg999His 465586668 180714609 20101123_snps_11753898_chr19_38956856 5.00e-04 unknown untested 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.2996G>A NC_000019.9:g.38956856G>A;NG_008866.1:g.37517G>A;NM_000540.2:c.2996G>A;NM_001042723.1:c.2996G>A;NP_000531.2:p.Arg999His;NP_001036188.1:p.Arg999His 475871494 180714609 RYR1_00278 5.00e-04 germline untested 2011.11.25 2011.11.25 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956856G>A;NG_008866.1:g.37517G>A;NM_000540.2:c.2996G>A;NM_001042723.1:c.2996G>A;NP_000531.2:p.Arg999His;NP_001036188.1:p.Arg999His 491157951 180714609 20110521_exome_665749_chr19_38956856 5.00e-04 germline untested 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956858G>A;NG_008866.1:g.37519G>A;NM_000540.2:c.2998G>A;NM_001042723.1:c.2998G>A;NP_000531.2:p.Val1000Met;NP_001036188.1:p.Val1000Met 342496434 138209392 ESP2500-chr19-38956858 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956881C>T;NG_008866.1:g.37542C>T;NM_000540.2:c.3021C>T;NM_001042723.1:c.3021C>T;NP_000531.2:p.Ser1007=;NP_001036188.1:p.Ser1007= 342496435 143891703 ESP2500-chr19-38956881 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 WIAF-CSNP 6261 NC_000019.9:g.38956902G>A;NG_008866.1:g.37563G>A;NM_000540.2:c.3042G>A;NM_001042723.1:c.3042G>A;NP_000531.2:p.Ala1014=;NP_001036188.1:p.Ala1014= 3172709 2228074 WIAF-12789 4.60e-03 unknown untested 2001.06.19 2003.10.10 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956902G>A;NG_008866.1:g.37563G>A;NM_000540.2:c.3042G>A;NM_001042723.1:c.3042G>A;NP_000531.2:p.Ala1014=;NP_001036188.1:p.Ala1014= 340454428 2228074 20100804_snps_12097969_chr19_38956902 4.60e-03 unknown untested 2011.03.22 2011.03.22 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956902G>A;NG_008866.1:g.37563G>A;NM_000540.2:c.3042G>A;NM_001042723.1:c.3042G>A;NP_000531.2:p.Ala1014=;NP_001036188.1:p.Ala1014= 342496436 2228074 ESP2500-chr19-38956902 4.60e-03 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.3042G>A NC_000019.9:g.38956902G>A;NG_008866.1:g.37563G>A;NM_000540.2:c.3042G>A;NM_001042723.1:c.3042G>A;NP_000531.2:p.Ala1014=;NP_001036188.1:p.Ala1014= 475871495 2228074 RYR1_00008 4.60e-03 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956902G>A;NG_008866.1:g.37563G>A;NM_000540.2:c.3042G>A;NM_001042723.1:c.3042G>A;NP_000531.2:p.Ala1014=;NP_001036188.1:p.Ala1014= 491157952 2228074 20110521_exome_665750_chr19_38956902 4.60e-03 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956903C>T;NG_008866.1:g.37564C>T;NM_000540.2:c.3043C>T;NM_001042723.1:c.3043C>T;NP_000531.2:p.Arg1015Cys;NP_001036188.1:p.Arg1015Cys 342496437 139006437 ESP2500-chr19-38956903 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956912C>G;NG_008866.1:g.37573C>G;NM_000540.2:c.3052C>G;NM_001042723.1:c.3052C>G;NP_000531.2:p.Pro1018Ala;NP_001036188.1:p.Pro1018Ala 342496438 143331857 ESP2500-chr19-38956912 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956925C>T;NG_008866.1:g.37586C>T;NM_000540.2:c.3065C>T;NM_001042723.1:c.3065C>T;NP_000531.2:p.Pro1022Leu;NP_001036188.1:p.Pro1022Leu 342496439 144830213 ESP2500-chr19-38956925 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956931G>A;NG_008866.1:g.37592G>A;NM_000540.2:c.3071G>A;NM_001042723.1:c.3071G>A;NP_000531.2:p.Arg1024His;NP_001036188.1:p.Arg1024His 342496440 148146893 ESP2500-chr19-38956931 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38956955G>A;NG_008866.1:g.37616G>A;NM_000540.2:c.3095G>A;NM_001042723.1:c.3095G>A;NP_000531.2:p.Arg1032His;NP_001036188.1:p.Arg1032His 342496441 141942845 ESP2500-chr19-38956955 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38956955G>A;NG_008866.1:g.37616G>A;NM_000540.2:c.3095G>A;NM_001042723.1:c.3095G>A;NP_000531.2:p.Arg1032His;NP_001036188.1:p.Arg1032His 491546439 141942845 nonsyn_262665_chr_19_38956955 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956956C>T;NG_008866.1:g.37617C>T;NM_000540.2:c.3096C>T;NM_001042723.1:c.3096C>T;NP_000531.2:p.Arg1032=;NP_001036188.1:p.Arg1032= 342496442 150546099 ESP2500-chr19-38956956 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38956971C>T;NG_008866.1:g.37632C>T;NM_000540.2:c.3111C>T;NM_001042723.1:c.3111C>T;NP_000531.2:p.Ser1037=;NP_001036188.1:p.Ser1037= 340454429 145434723 20100804_snps_12097970_chr19_38956971 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38956971C>T;NG_008866.1:g.37632C>T;NM_000540.2:c.3111C>T;NM_001042723.1:c.3111C>T;NP_000531.2:p.Ser1037=;NP_001036188.1:p.Ser1037= 342496443 145434723 ESP2500-chr19-38956971 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38956971C>T;NG_008866.1:g.37632C>T;NM_000540.2:c.3111C>T;NM_001042723.1:c.3111C>T;NP_000531.2:p.Ser1037=;NP_001036188.1:p.Ser1037= 491157953 145434723 20110521_exome_665751_chr19_38956971 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 POPS 6261 NC_000019.9:g.38956987C>T;NG_008866.1:g.37648C>T;NM_000540.2:c.3127C>T;NM_001042723.1:c.3127C>T;NP_000531.2:p.Arg1043Cys;NP_001036188.1:p.Arg1043Cys 182258906 111272095 MHY6 germline untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.3127C>T NC_000019.9:g.38956987C>T;NG_008866.1:g.37648C>T;NM_000540.2:c.3127C>T;NM_001042723.1:c.3127C>T;NP_000531.2:p.Arg1043Cys;NP_001036188.1:p.Arg1043Cys 475871496 111272095 RYR1_00141 unknown untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38957004C>T;NG_008866.1:g.37665C>T;NM_000540.2:c.3144C>T;NM_001042723.1:c.3144C>T;NP_000531.2:p.Tyr1048=;NP_001036188.1:p.Tyr1048= 342496444 143242075 ESP2500-chr19-38957004 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38957067G>C;NG_008866.1:g.37728G>C;NM_000540.2:c.3178+29G>C;NM_001042723.1:c.3178+29G>C 340454430 149216348 20100804_snps_12097971_chr19_38957067 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38957099_38957100insC;NG_008866.1:g.37760_37761insC;NM_000540.2:c.3178+61_3178+62insC;NM_001042723.1:c.3178+61_3178+62insC 41004598 34458558 hCV32823843 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 SC_SNP 6261 NC_000019.9:g.38957139A>G;NG_008866.1:g.37800A>G;NM_000540.2:c.3178+101A>G;NM_001042723.1:c.3178+101A>G 14784593 10451435 NT_011109.15_11225357 1.56e-02 2003.11.12 2003.11.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957139A>G;NG_008866.1:g.37800A>G;NM_000540.2:c.3178+101A>G;NM_001042723.1:c.3178+101A>G 228135623 10451435 pilot_1_YRI_9945306_chr19_43648979 1.56e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38957139A>G;NG_008866.1:g.37800A>G;NM_000540.2:c.3178+101A>G;NM_001042723.1:c.3178+101A>G 482324582 10451435 HumanOmni2.5-4v1_D_kgp21378167-0_T_F_1844108632 1.56e-02 2012.02.01 2012.02.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38957139A>G;NG_008866.1:g.37800A>G;NM_000540.2:c.3178+101A>G;NM_001042723.1:c.3178+101A>G 483825909 10451435 HumanOmni2.5-4v1_B_SNP19-43648979-0_T_F_1644333232 1.56e-02 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38957161_38957163delTTG;NG_008866.1:g.37822_37824delTTG;NM_000540.2:c.3178+123_3178+125delTTG;NM_001042723.1:c.3178+123_3178+125delTTG 103616557 75020075 JWB-4066187 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.38957203G>A;NG_008866.1:g.37864G>A;NM_000540.2:c.3178+165G>A;NM_001042723.1:c.3178+165G>A 283205899 199818357 GMI_AK_SNP_7526320 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38957216A>T;NG_008866.1:g.37877A>T;NM_000540.2:c.3178+178A>T;NM_001042723.1:c.3178+178A>T 465586669 185929016 20101123_snps_11753899_chr19_38957216 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957329G>A;NG_008866.1:g.37990G>A;NM_000540.2:c.3178+291G>A;NM_001042723.1:c.3178+291G>A 465586670 188346317 20101123_snps_11753900_chr19_38957329 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957355A>T;NG_008866.1:g.38016A>T;NM_000540.2:c.3178+317A>T;NM_001042723.1:c.3178+317A>T 465586671 181820072 20101123_snps_11753901_chr19_38957355 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 6627544 4801763 NT_011109.13_1112435 3.92e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 14784594 4801763 NT_011109.15_11225638 3.92e-01 2003.11.12 2003.11.22 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 21529139 4801763 WGSA-200403-chr19.chr19.NT_011109.15_11225638 3.92e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 40963653 4801763 hCV7821757 3.92e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 96305659 4801763 1103691141789 3.92e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 132762409 4801763 ENSSNP1527889 3.92e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 155887531 4801763 GMI_SNP_201657167 3.92e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 168182972 4801763 NA07022_36_chr19_43649260 3.92e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 169706615 4801763 NA19240_36_chr19_43649260 3.92e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 171754281 4801763 NA20431_36_chr19_43649260 3.92e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 203750865 4801763 BUSHMAN-chr19-43649259 3.92e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 208475691 4801763 BCM_CMT_1011-3116005 3.92e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 255668283 4801763 SNP49602_19_43649260 3.92e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 283205900 4801763 GMI_AK_SNP_7526321 3.92e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957420C>T;NG_008866.1:g.38081C>T;NM_000540.2:c.3178+382C>T;NM_001042723.1:c.3178+382C>T 340454431 4801763 20100804_snps_12097972_chr19_38957420 3.92e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957430T>C;NG_008866.1:g.38091T>C;NM_000540.2:c.3178+392T>C;NM_001042723.1:c.3178+392T>C 465586672 186411661 20101123_snps_11753902_chr19_38957430 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957506C>T;NG_008866.1:g.38167C>T;NM_000540.2:c.3178+468C>T;NM_001042723.1:c.3178+468C>T 465586673 190382323 20101123_snps_11753903_chr19_38957506 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38957507G>A;NG_008866.1:g.38168G>A;NM_000540.2:c.3178+469G>A;NM_001042723.1:c.3178+469G>A 203750866 112461316 BUSHMAN-chr19-43649346 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38957546A>G;NG_008866.1:g.38207A>G;NM_000540.2:c.3178+508A>G;NM_001042723.1:c.3178+508A>G 228135624 114470725 pilot_1_YRI_9945307_chr19_43649386 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 6628608 4802484 NT_011109.13_1112586 4.35e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 14784595 4802484 NT_011109.15_11225789 4.35e-01 2003.11.12 2003.11.22 2003.02.20 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 21531696 4802484 WGSA-200403-chr19.chr19.NT_011109.15_11225789 4.35e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 44165567 4802484 hCV1936550 4.35e-01 2005.07.18 2005.07.18 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 96305660 4802484 1103691141790 4.35e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 103437733 4802484 BGI_rs4802484 4.35e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 111365390 4802484 CEU.trio.12.15.2008_3616610_chr19_43649411 4.35e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 115120180 4802484 NA19240_2008_12_16_3257563_chr19_43649411 4.35e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 117702509 4802484 NA18507_000043848_NCBI36.1_chr19_43649411 4.35e-01 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 132762414 4802484 ENSSNP1527890 4.35e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 155887537 4802484 GMI_SNP_40672030 4.35e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 168182986 4802484 NA07022_36_chr19_43649411 4.35e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 169706637 4802484 NA19240_36_chr19_43649411 4.35e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 171754288 4802484 NA20431_36_chr19_43649411 4.35e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 203750867 4802484 BUSHMAN-chr19-43649410 4.35e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 208391220 4802484 BCM_CMT_1011-3088002 4.35e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 228135625 4802484 pilot_1_YRI_9945308_chr19_43649411 4.35e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 237674122 4802484 pilot_1_CEU_7278751_chr19_43649411 4.35e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 243880927 4802484 pilot_1_CHB+JPT_5766004_chr19_43649411 4.35e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 283205901 4802484 GMI_AK_SNP_7526322 4.35e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38957571G>T;NG_008866.1:g.38232G>T;NM_000540.2:c.3178+533G>T;NM_001042723.1:c.3178+533G>T 292248480 4802484 SNP_1754838_chr19_43649411 4.35e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957666A>G;NG_008866.1:g.38327A>G;NM_000540.2:c.3179-584A>G;NM_001042723.1:c.3179-584A>G 228135626 115411422 pilot_1_YRI_9945309_chr19_43649506 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38957772C>T;NG_008866.1:g.38433C>T;NM_000540.2:c.3179-478C>T;NM_001042723.1:c.3179-478C>T 465586674 183434199 20101123_snps_11753904_chr19_38957772 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957809C>T;NG_008866.1:g.38470C>T;NM_000540.2:c.3179-441C>T;NM_001042723.1:c.3179-441C>T 111365398 73046904 CEU.trio.12.15.2008_3616611_chr19_43649649 5.50e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38957809C>T;NG_008866.1:g.38470C>T;NM_000540.2:c.3179-441C>T;NM_001042723.1:c.3179-441C>T 208462600 73046904 BCM_CMT_1011-3111739 5.50e-03 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957809C>T;NG_008866.1:g.38470C>T;NM_000540.2:c.3179-441C>T;NM_001042723.1:c.3179-441C>T 340454432 73046904 20100804_snps_12097973_chr19_38957809 5.50e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38957881C>T;NG_008866.1:g.38542C>T;NM_000540.2:c.3179-369C>T;NM_001042723.1:c.3179-369C>T 465586675 186330980 20101123_snps_11753905_chr19_38957881 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957892C>T;NG_008866.1:g.38553C>T;NM_000540.2:c.3179-358C>T;NM_001042723.1:c.3179-358C>T 465586676 191132606 20101123_snps_11753906_chr19_38957892 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38957951C>A;NG_008866.1:g.38612C>A;NM_000540.2:c.3179-299C>A;NM_001042723.1:c.3179-299C>A 465586677 183450839 20101123_snps_11753907_chr19_38957951 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38958097C>T;NG_008866.1:g.38758C>T;NM_000540.2:c.3179-153C>T;NM_001042723.1:c.3179-153C>T 228135627 74603652 pilot_1_YRI_9945310_chr19_43649937 2.29e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38958128C>T;NG_008866.1:g.38789C>T;NM_000540.2:c.3179-122C>T;NM_001042723.1:c.3179-122C>T 228135628 115703825 pilot_1_YRI_9945311_chr19_43649968 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38958161C>A;NG_008866.1:g.38822C>A;NM_000540.2:c.3179-89C>A;NM_001042723.1:c.3179-89C>A 340454433 140472790 20100804_snps_12097974_chr19_38958161 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38958162C>G;NG_008866.1:g.38823C>G;NM_000540.2:c.3179-88C>G;NM_001042723.1:c.3179-88C>G 340454434 145699105 20100804_snps_12097975_chr19_38958162 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38958282G>A;NG_008866.1:g.38943G>A;NM_000540.2:c.3211G>A;NM_001042723.1:c.3211G>A;NP_000531.2:p.Val1071Met;NP_001036188.1:p.Val1071Met 342496445 146188106 ESP2500-chr19-38958282 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38958307C>G;NG_008866.1:g.38968C>G;NM_000540.2:c.3236C>G;NM_001042723.1:c.3236C>G;NP_000531.2:p.Ser1079Cys;NP_001036188.1:p.Ser1079Cys 342496446 139081030 ESP2500-chr19-38958307 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38958323C>T;NG_008866.1:g.38984C>T;NM_000540.2:c.3252C>T;NM_001042723.1:c.3252C>T;NP_000531.2:p.Ser1084=;NP_001036188.1:p.Ser1084= 342496447 144164620 ESP2500-chr19-38958323 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38958357A>G;NG_008866.1:g.39018A>G;NM_000540.2:c.3286A>G;NM_001042723.1:c.3286A>G;NP_000531.2:p.Thr1096Ala;NP_001036188.1:p.Thr1096Ala 465586678 187528159 20101123_snps_11753908_chr19_38958357 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958357A>G;NG_008866.1:g.39018A>G;NM_000540.2:c.3286A>G;NM_001042723.1:c.3286A>G;NP_000531.2:p.Thr1096Ala;NP_001036188.1:p.Thr1096Ala 491157954 187528159 20110521_exome_665752_chr19_38958357 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38958372G>A;NG_008866.1:g.39033G>A;NM_000540.2:c.3301G>A;NM_001042723.1:c.3301G>A;NP_000531.2:p.Val1101Met;NP_001036188.1:p.Val1101Met 342496448 145088074 ESP2500-chr19-38958372 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38958382C>T;NG_008866.1:g.39043C>T;NM_000540.2:c.3311C>T;NM_001042723.1:c.3311C>T;NP_000531.2:p.Ala1104Val;NP_001036188.1:p.Ala1104Val 342496449 149096607 ESP2500-chr19-38958382 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 48401736 35719391 hCV25630464 6.00e-03 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 69228161 35719391 PGP17791087 6.00e-03 2007.01.30 2008.03.31 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 340454435 35719391 20100804_snps_12097976_chr19_38958397 6.00e-03 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 342496450 35719391 ESP2500-chr19-38958397 6.00e-03 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 491157955 35719391 20110521_exome_665753_chr19_38958397 6.00e-03 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38958397G>A;NG_008866.1:g.39058G>A;NM_000540.2:c.3326G>A;NM_001042723.1:c.3326G>A;NP_000531.2:p.Arg1109Lys;NP_001036188.1:p.Arg1109Lys 491546440 35719391 nonsyn_262666_chr_19_38958397 6.00e-03 2012.03.06 2012.03.06 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38958422C>T;NG_008866.1:g.39083C>T;NM_000540.2:c.3351C>T;NM_001042723.1:c.3351C>T;NP_000531.2:p.Asp1117=;NP_001036188.1:p.Asp1117= 342496451 151182947 ESP2500-chr19-38958422 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.38958452C>T;NG_008866.1:g.39113C>T;NM_000540.2:c.3381C>T;NM_001042723.1:c.3381C>T;NP_000531.2:p.Arg1127=;NP_001036188.1:p.Arg1127= 491766154 200780880 SNV-chr19-43650292 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958457G>A;NG_008866.1:g.39118G>A;NM_000540.2:c.3381+5G>A;NM_001042723.1:c.3381+5G>A 489164410 199691436 20110521_exome_255598_chr19_38958457 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958547C>T;NG_008866.1:g.39208C>T;NM_000540.2:c.3381+95C>T;NM_001042723.1:c.3381+95C>T 340454436 141758809 20100804_snps_12097977_chr19_38958547 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38958624A>G;NG_008866.1:g.39285A>G;NM_000540.2:c.3381+172A>G;NM_001042723.1:c.3381+172A>G 340454437 150137731 20100804_snps_12097978_chr19_38958624 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38958666delC;NC_000019.9:g.38958666delCinsCATC;NG_008866.1:g.39327delC;NG_008866.1:g.39327delCinsCATC;NM_000540.2:c.3381+214delC;NM_000540.2:c.3381+214delCinsCATC;NM_001042723.1:c.3381+214delC;NM_001042723.1:c.3381+214delCinsCATC 50378217 35591193 INDEL_GP35_WGS_671632 2006.01.24 2006.01.24 2006.03.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38958666delC;NC_000019.9:g.38958666delCinsCATC;NG_008866.1:g.39327delC;NG_008866.1:g.39327delCinsCATC;NM_000540.2:c.3381+214delC;NM_000540.2:c.3381+214delCinsCATC;NM_001042723.1:c.3381+214delC;NM_001042723.1:c.3381+214delCinsCATC 100963473 35591193 INDEL_GP36_2008a_1390280_0 2008.05.17 2008.05.17 2006.03.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38958666_38958669delCATC;NG_008866.1:g.39327_39330delCATC;NM_000540.2:c.3381+214_3381+217delCATC;NM_001042723.1:c.3381+214_3381+217delCATC 102578202 67434030 INDEL_GP36_2008a_1167623_0 2008.05.18 2008.05.18 2009.02.05 2011.10.06 137 DEVINE_LAB 6261 NC_000019.9:g.38958666_38958669delCATC;NG_008866.1:g.39327_39330delCATC;NM_000540.2:c.3381+214_3381+217delCATC;NM_001042723.1:c.3381+214_3381+217delCATC 102578203 67434030 INDEL_GP36_2008a_1167623_1 2008.05.18 2008.05.18 2009.02.05 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38958666_38958669delCATC;NG_008866.1:g.39327_39330delCATC;NM_000540.2:c.3381+214_3381+217delCATC;NM_001042723.1:c.3381+214_3381+217delCATC 327903764 67434030 JPTCHB_chr19_43650505_indel 2011.03.13 2011.04.03 2009.02.05 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38958666_38958669delCATC;NG_008866.1:g.39327_39330delCATC;NM_000540.2:c.3381+214_3381+217delCATC;NM_001042723.1:c.3381+214_3381+217delCATC 328032194 67434030 CEU_chr19_43650505_indel 2011.03.13 2011.04.03 2009.02.05 2011.10.06 137 PJP 6261 NC_000019.9:g.38958667_38958670delATCC;NG_008866.1:g.39328_39331delATCC;NM_000540.2:c.3381+215_3381+218delATCC;NM_001042723.1:c.3381+215_3381+218delATCC 294962533 149926886 DIP_400237_chr19_43650515 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38958686C>A;NG_008866.1:g.39347C>A;NM_000540.2:c.3381+234C>A;NM_001042723.1:c.3381+234C>A 90969875 62118991 JWB-2965858 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38958686C>A;NG_008866.1:g.39347C>A;NM_000540.2:c.3381+234C>A;NM_001042723.1:c.3381+234C>A 255668288 62118991 SNP49603_19_43650526 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38958686C>A;NG_008866.1:g.39347C>A;NM_000540.2:c.3381+234C>A;NM_001042723.1:c.3381+234C>A 283205902 62118991 GMI_AK_SNP_7526323 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38958687A>T;NG_008866.1:g.39348A>T;NM_000540.2:c.3381+235A>T;NM_001042723.1:c.3381+235A>T 90969878 62118992 JWB-2965859 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38958687A>T;NG_008866.1:g.39348A>T;NM_000540.2:c.3381+235A>T;NM_001042723.1:c.3381+235A>T 255668293 62118992 SNP49604_19_43650527 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38958687A>T;NG_008866.1:g.39348A>T;NM_000540.2:c.3381+235A>T;NM_001042723.1:c.3381+235A>T 283205903 62118992 GMI_AK_SNP_7526324 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38958688T>C;NG_008866.1:g.39349T>C;NM_000540.2:c.3381+236T>C;NM_001042723.1:c.3381+236T>C 90969882 62118993 JWB-2965860 2008.03.01 2008.03.01 2008.03.24 2012.11.28 137 BL 6261 NC_000019.9:g.38958688T>C;NG_008866.1:g.39349T>C;NM_000540.2:c.3381+236T>C;NM_001042723.1:c.3381+236T>C 255668298 62118993 SNP49605_19_43650528 2010.08.20 2010.08.20 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38958688T>C;NG_008866.1:g.39349T>C;NM_000540.2:c.3381+236T>C;NM_001042723.1:c.3381+236T>C 283205904 62118993 GMI_AK_SNP_7526325 2010.12.16 2010.12.16 2008.03.24 2012.11.28 137 GMI 6261 NC_000019.9:g.38958690A>C;NG_008866.1:g.39351A>C;NM_000540.2:c.3381+238A>C;NM_001042723.1:c.3381+238A>C 283205905 199841146 GMI_AK_SNP_7526326 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.38958691T>A;NG_008866.1:g.39352T>A;NM_000540.2:c.3381+239T>A;NM_001042723.1:c.3381+239T>A 283205906 200794881 GMI_AK_SNP_7526327 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.38958692C>T;NG_008866.1:g.39353C>T;NM_000540.2:c.3381+240C>T;NM_001042723.1:c.3381+240C>T 283205907 201818914 GMI_AK_SNP_7526328 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 HGSV 6261 NC_000019.9:g.38958697delC;NC_000019.9:g.38958697delCinsCATCATCCATCC;NG_008866.1:g.39358delC;NG_008866.1:g.39358delCinsCATCATCCATCC;NM_000540.2:c.3381+245delC;NM_000540.2:c.3381+245delCinsCATCATCCATCC;NM_001042723.1:c.3381+245delC;NM_001042723.1:c.3381+245delCinsCATCATCCATCC 81176884 56680966 Cor18956_DIV_20070510.chr19_43650525-43650538_1 2007.11.28 2007.11.28 2007.12.14 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38958727_38958742del16;NG_008866.1:g.39388_39403del16;NM_000540.2:c.3381+275_3381+290del16;NM_001042723.1:c.3381+275_3381+290del16 101116199 66607730 INDEL_GP36_2008a_1167624_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38958727_38958742del16;NG_008866.1:g.39388_39403del16;NM_000540.2:c.3381+275_3381+290del16;NM_001042723.1:c.3381+275_3381+290del16 101116202 66607730 INDEL_GP36_2008a_1167624_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.38958735A>T;NG_008866.1:g.39396A>T;NM_000540.2:c.3381+283A>T;NM_001042723.1:c.3381+283A>T 19406111 12462320 CSHL-HuDD-200402.chr19.NT_011109.15_11226953 variation has been flagged as failed by submitter 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38958735A>T;NG_008866.1:g.39396A>T;NM_000540.2:c.3381+283A>T;NM_001042723.1:c.3381+283A>T 81558688 12462320 Cor18555_SNV_20070510.chr19_43650575 variation has been flagged as failed by submitter 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38958735A>T;NG_008866.1:g.39396A>T;NM_000540.2:c.3381+283A>T;NM_001042723.1:c.3381+283A>T 203750868 12462320 BUSHMAN-chr19-43650574 variation has been flagged as failed by submitter 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38958735A>T;NG_008866.1:g.39396A>T;NM_000540.2:c.3381+283A>T;NM_001042723.1:c.3381+283A>T 255668302 12462320 SNP49606_19_43650575 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38958735A>T;NG_008866.1:g.39396A>T;NM_000540.2:c.3381+283A>T;NM_001042723.1:c.3381+283A>T 283205908 12462320 GMI_AK_SNP_7526329 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38958736_38958743delCCATCCAT;NG_008866.1:g.39397_39404delCCATCCAT;NM_000540.2:c.3381+284_3381+291delCCATCCAT;NM_001042723.1:c.3381+284_3381+291delCCATCCAT 289387895 150802468 GMI_AK_INDEL_1065352 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958736_38958743delCCATCCAT;NG_008866.1:g.39397_39404delCCATCCAT;NM_000540.2:c.3381+284_3381+291delCCATCCAT;NM_001042723.1:c.3381+284_3381+291delCCATCCAT 327903766 150802468 JPTCHB_chr19_43650575_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958736_38958743delCCATCCAT;NG_008866.1:g.39397_39404delCCATCCAT;NM_000540.2:c.3381+284_3381+291delCCATCCAT;NM_001042723.1:c.3381+284_3381+291delCCATCCAT 328032196 150802468 CEU_chr19_43650575_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958736_38958743delCCATCCAT;NG_008866.1:g.39397_39404delCCATCCAT;NM_000540.2:c.3381+284_3381+291delCCATCCAT;NM_001042723.1:c.3381+284_3381+291delCCATCCAT 328276227 150802468 YRI_chr19_43650575_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 HGSV 6261 NC_000019.9:g.38958739_38958746delTCCATCCA;NG_008866.1:g.39400_39407delTCCATCCA;NM_000540.2:c.3381+287_3381+294delTCCATCCA;NM_001042723.1:c.3381+287_3381+294delTCCATCCA 81176887 57656212 Cor18956_DIV_20070510.chr19_43650578-43650587_1 2007.11.28 2007.11.28 2007.12.14 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 19399214 12460284 CSHL-HuDD-200402.chr19.NT_011109.15_11226961 variation has been flagged as failed by submitter 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 83716026 12460284 Cor18555_SNV_20070510.chr19_43650583 variation has been flagged as failed by submitter 2007.12.05 2007.12.05 2004.02.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 103437734 12460284 BGI_rs12460284 variation has been flagged as failed by submitter 2008.06.06 2009.06.17 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 155887552 12460284 GMI_SNP_41031030 variation has been flagged as failed by submitter 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 203750869 12460284 BUSHMAN-chr19-43650582 variation has been flagged as failed by submitter 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 255668308 12460284 SNP49607_19_43650583 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38958743T>A;NG_008866.1:g.39404T>A;NM_000540.2:c.3381+291T>A;NM_001042723.1:c.3381+291T>A 283205909 12460284 GMI_AK_SNP_7526330 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38958772C>A;NG_008866.1:g.39433C>A;NM_000540.2:c.3381+320C>A;NM_001042723.1:c.3381+320C>A 340454439 142869852 20100804_snps_12097980_chr19_38958772 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38958786C>G;NG_008866.1:g.39447C>G;NM_000540.2:c.3381+334C>G;NM_001042723.1:c.3381+334C>G 340454440 147424173 20100804_snps_12097981_chr19_38958786 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38958827A>G;NG_008866.1:g.39488A>G;NM_000540.2:c.3381+375A>G;NM_001042723.1:c.3381+375A>G 465586679 191559051 20101123_snps_11753909_chr19_38958827 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 6261 NC_000019.9:g.38958930C>T;NG_008866.1:g.39591C>T;NM_000540.2:c.3381+478C>T;NM_001042723.1:c.3381+478C>T 90969884 62118994 JWB-2965861 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 GMI 6261 NC_000019.9:g.38959063C>T;NG_008866.1:g.39724C>T;NM_000540.2:c.3382-543C>T;NM_001042723.1:c.3382-543C>T 155887560 78086435 GMI_SNP_40718098 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959063C>T;NG_008866.1:g.39724C>T;NM_000540.2:c.3382-543C>T;NM_001042723.1:c.3382-543C>T 243880928 78086435 pilot_1_CHB+JPT_5766005_chr19_43650903 1.05e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38959063C>T;NG_008866.1:g.39724C>T;NM_000540.2:c.3382-543C>T;NM_001042723.1:c.3382-543C>T 283205910 78086435 GMI_AK_SNP_7526331 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959108C>A;NG_008866.1:g.39769C>A;NM_000540.2:c.3382-498C>A;NM_001042723.1:c.3382-498C>A 340454442 143378445 20100804_snps_12097983_chr19_38959108 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 10940448 7258075 chr19.NT_011109.15_11227414 8.01e-02 unknown untested 2003.06.30 2004.08.05 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 17618251 7258075 CSHL-HuCC-200402.chr19.NT_011109.15_11227414 8.01e-02 unknown untested 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 44185564 7258075 hCV11507950 8.01e-02 germline untested 2005.07.18 2006.11.03 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 66528114 7258075 SNP_A-4232483 8.01e-02 germline untested 2006.10.29 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 66565105 7258075 HumanHap300v1.1_rs7258075 8.01e-02 germline untested 2006.11.09 2006.11.09 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 67562756 7258075 HumanHap550v1.1_rs7258075 8.01e-02 germline untested 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 67940680 7258075 HumanHap650Yv1.0_rs7258075 8.01e-02 germline untested 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 69228162 7258075 PGP10908606 8.01e-02 germline untested 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 70919760 7258075 HumanHap550v3.0__rs7258075 8.01e-02 germline untested 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 71519276 7258075 HumanHap650Yv3.0_rs7258075 8.01e-02 germline untested 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 75749369 7258075 ILMN_Human_1M_rs7258075 8.01e-02 unknown untested 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 76350707 7258075 AFFY_6_1M_SNP_A-4232483 8.01e-02 germline untested 2007.08.30 2010.03.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 79252227 7258075 HumanHap300v2.0_rs7258075 8.01e-02 unknown untested 2007.11.18 2007.11.18 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 84647604 7258075 KHS768311 8.01e-02 germline untested 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 122728133 7258075 HumanCNV370v1_C_rs7258075 8.01e-02 germline untested 2009.04.15 2009.04.15 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 154416385 7258075 Human610_Quadv1_B_rs7258075-128_B_F_1501866873 8.01e-02 unknown untested 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 159591478 7258075 Human660W-Quad_v1_A_rs7258075-128_B_F_1501866873 8.01e-02 germline untested 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 160866555 7258075 HumanOmni1-Quad_v1-0_B_rs7258075-128_B_F_1501866873 8.01e-02 unknown untested 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 161878497 7258075 ENSSNP1527891 8.01e-02 germline untested 2009.09.26 2010.03.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 172271654 7258075 HumanCNV370-Quadv3_C_rs7258075-128_B_F_1501866873 8.01e-02 unknown untested 2009.10.02 2009.10.04 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 173351461 7258075 GenomeWideSNP_5_SNP_A-4232483 8.01e-02 unknown untested 2009.10.03 2009.10.03 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 174313129 7258075 Human1M-Duov3_B_rs7258075-128_B_F_1501866873 8.01e-02 unknown untested 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 228135629 7258075 pilot_1_YRI_9945312_chr19_43651036 8.01e-02 germline untested 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 237674123 7258075 pilot_1_CEU_7278752_chr19_43651036 8.01e-02 germline untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 243880929 7258075 pilot_1_CHB+JPT_5766006_chr19_43651036 8.01e-02 germline untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 255668313 7258075 SNP49608_19_43651036 8.01e-02 germline untested 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.3382-410T>G NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 475871497 7258075 RYR1_00345 8.01e-02 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 481525895 7258075 HumanOmni2.5-4v1_B_rs7258075-128_B_F_1772062916 8.01e-02 germline untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 481554688 7258075 HumanOmniExpress-12v1_C_rs7258075-131_B_F_1857233691 8.01e-02 germline untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 482528903 7258075 HumanOmni1-Quad_v1-0_C_rs7258075-131_B_F_1865757821 8.01e-02 unknown untested 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959196T>G;NG_008866.1:g.39857T>G;NM_000540.2:c.3382-410T>G;NM_001042723.1:c.3382-410T>G 485557998 7258075 HumanOmni2.5-4v1_D_rs7258075-131_B_F_1857233691 8.01e-02 unknown untested 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959322C>A;NG_008866.1:g.39983C>A;NM_000540.2:c.3382-284C>A;NM_001042723.1:c.3382-284C>A 340454443 143955076 20100804_snps_12097984_chr19_38959322 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38959329A>G;NG_008866.1:g.39990A>G;NM_000540.2:c.3382-277A>G;NM_001042723.1:c.3382-277A>G 340454444 148637972 20100804_snps_12097985_chr19_38959329 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38959484C>T;NG_008866.1:g.40145C>T;NM_000540.2:c.3382-122C>T;NM_001042723.1:c.3382-122C>T 340454445 142945289 20100804_snps_12097986_chr19_38959484 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LUMC-LOVD 6261 NM_000540.2:c.3418C>T NC_000019.9:g.38959642C>T;NG_008866.1:g.40303C>T;NM_000540.2:c.3418C>T;NM_001042723.1:c.3418C>T;NP_000531.2:p.Arg1140Cys;NP_001036188.1:p.Arg1140Cys 475871498 193922776 RYR1_00090 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38959644C>G;NG_008866.1:g.40305C>G;NM_000540.2:c.3420C>G;NM_001042723.1:c.3420C>G;NP_000531.2:p.Arg1140=;NP_001036188.1:p.Arg1140= 489164412 201599911 20110521_exome_255599_chr19_38959644 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38959655C>T;NG_008866.1:g.40316C>T;NM_000540.2:c.3431C>T;NM_001042723.1:c.3431C>T;NP_000531.2:p.Pro1144Leu;NP_001036188.1:p.Pro1144Leu 491766155 201940876 SNV-chr19-43651495 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959666G>A;NG_008866.1:g.40327G>A;NM_000540.2:c.3442G>A;NM_001042723.1:c.3442G>A;NP_000531.2:p.Val1148Ile;NP_001036188.1:p.Val1148Ile 489164414 201174268 20110521_exome_255600_chr19_38959666 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 17625853 11083462 CSHL-HuCC-200402.chr19.NT_011109.15_11227898 3.94e-01 unknown untested 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 20071404 11083462 CSHL-HuFF-200402.chr19.NT_011109.15_11227898 3.94e-01 germline untested 2004.02.22 2004.03.04 2004.02.27 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 23763113 11083462 afd3509137 3.94e-01 germline untested 2004.08.20 2004.09.13 2004.02.27 2012.11.28 137 ABI 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 44172018 11083462 hCV7821747 3.94e-01 germline untested 2005.07.18 2006.11.03 2004.02.27 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 48401737 11083462 hCV7821747 3.94e-01 germline untested 2005.11.30 2006.11.03 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 65745246 11083462 Human1-rs11083462 3.94e-01 germline untested 2006.10.10 2006.10.10 2004.02.27 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 66328322 11083462 SNP_A-1915634 3.94e-01 unknown untested 2006.10.29 2008.03.31 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 74905348 11083462 ILMN_Human_1M_rs11083462 3.94e-01 germline untested 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 76023014 11083462 AFFY_6_1M_SNP_A-1915634 3.94e-01 unknown untested 2007.08.29 2010.03.07 2004.02.27 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 82846496 11083462 KHS337956 3.94e-01 unknown untested 2007.12.03 2007.12.03 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 96305661 11083462 1103691141791 3.94e-01 germline untested 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 BGI 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 103437735 11083462 BGI_rs11083462 3.94e-01 germline untested 2008.06.06 2009.06.17 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 111365422 11083462 CEU.trio.12.15.2008_3616614_chr19_43651520 3.94e-01 germline untested 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 115120193 11083462 NA19240_2008_12_16_3257565_chr19_43651520 3.94e-01 germline untested 2008.12.19 2008.12.19 2004.02.27 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 117702511 11083462 NA18507_000043849_NCBI36.1_chr19_43651520 3.94e-01 germline untested 2009.01.20 2009.01.20 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 136267564 11083462 ENSSNP1527892 3.94e-01 unknown untested 2009.05.15 2010.03.07 2004.02.27 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 159739622 11083462 RYR1-43651520 3.94e-01 germline untested 2009.07.10 2009.07.10 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 159956191 11083462 HumanOmni1-Quad_v1-0_B_rs11083462-128_T_R_1513919916 3.94e-01 germline untested 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 168182994 11083462 NA07022_36_chr19_43651520 3.94e-01 unknown untested 2009.09.30 2009.09.30 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 169706654 11083462 NA19240_36_chr19_43651520 3.94e-01 germline untested 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 AFFY 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 170534945 11083462 GenomeWideSNP_5_SNP_A-1915634 3.94e-01 germline untested 2009.10.01 2009.10.02 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 171007592 11083462 Human1M-Duov3_B_rs11083462-128_T_R_1513919916 3.94e-01 germline untested 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 171754295 11083462 NA20431_36_chr19_43651520 3.94e-01 unknown untested 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 203750870 11083462 BUSHMAN-chr19-43651519 3.94e-01 unknown untested 2010.03.09 2010.03.09 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 208383527 11083462 BCM_CMT_1011-3085434 3.94e-01 germline untested 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 228135630 11083462 pilot_1_YRI_9945313_chr19_43651520 3.94e-01 germline untested 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 237674124 11083462 pilot_1_CEU_7278753_chr19_43651520 3.94e-01 germline untested 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 243880930 11083462 pilot_1_CHB+JPT_5766007_chr19_43651520 3.94e-01 unknown untested 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 255668319 11083462 SNP49609_19_43651520 3.94e-01 germline untested 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 283205911 11083462 GMI_AK_SNP_7526332 3.94e-01 unknown untested 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 292248481 11083462 SNP_1754839_chr19_43651520 3.94e-01 germline untested 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 342496452 11083462 ESP2500-chr19-38959680 3.94e-01 unknown untested 2011.03.27 2011.03.27 2004.02.27 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.3456C>T NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 475871499 11083462 RYR1_00048 3.94e-01 germline untested 2011.11.25 2011.11.25 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 479457116 11083462 HumanOmni2.5-4v1_B_rs11083462-128_T_R_1782920996 3.94e-01 germline untested 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 479460936 11083462 HumanOmniExpress-12v1_C_rs11083462-131_T_R_1857225724 3.94e-01 germline untested 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 479890754 11083462 HumanOmni1-Quad_v1-0_C_rs11083462-131_T_R_1857225724 3.94e-01 unknown untested 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 484528254 11083462 HumanOmni2.5-4v1_D_rs11083462-131_T_R_1857225724 3.94e-01 unknown untested 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 491157956 11083462 20110521_exome_665754_chr19_38959680 3.94e-01 unknown untested 2012.02.22 2012.02.22 2004.02.27 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38959680C>T;NG_008866.1:g.40341C>T;NM_000540.2:c.3456C>T;NM_001042723.1:c.3456C>T;NP_000531.2:p.Ile1152=;NP_001036188.1:p.Ile1152= 491766156 11083462 SNV-chr19-43651520 3.94e-01 unknown untested 2012.03.07 2012.03.13 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959687A>G;NG_008866.1:g.40348A>G;NM_000540.2:c.3463A>G;NM_001042723.1:c.3463A>G;NP_000531.2:p.Thr1155Ala;NP_001036188.1:p.Thr1155Ala 465586680 183262321 20101123_snps_11753910_chr19_38959687 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959687A>G;NG_008866.1:g.40348A>G;NM_000540.2:c.3463A>G;NM_001042723.1:c.3463A>G;NP_000531.2:p.Thr1155Ala;NP_001036188.1:p.Thr1155Ala 491157957 183262321 20110521_exome_665755_chr19_38959687 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38959687A>G;NG_008866.1:g.40348A>G;NM_000540.2:c.3463A>G;NM_001042723.1:c.3463A>G;NP_000531.2:p.Thr1155Ala;NP_001036188.1:p.Thr1155Ala 491546441 183262321 nonsyn_262667_chr_19_38959687 1.40e-03 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959713C>G;NG_008866.1:g.40374C>G;NM_000540.2:c.3489C>G;NM_001042723.1:c.3489C>G;NP_000531.2:p.Leu1163=;NP_001036188.1:p.Leu1163= 340454446 151086215 20100804_snps_12097987_chr19_38959713 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38959713C>G;NG_008866.1:g.40374C>G;NM_000540.2:c.3489C>G;NM_001042723.1:c.3489C>G;NP_000531.2:p.Leu1163=;NP_001036188.1:p.Leu1163= 342496453 151086215 ESP2500-chr19-38959713 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959713C>G;NG_008866.1:g.40374C>G;NM_000540.2:c.3489C>G;NM_001042723.1:c.3489C>G;NP_000531.2:p.Leu1163=;NP_001036188.1:p.Leu1163= 491157958 151086215 20110521_exome_665756_chr19_38959713 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38959729A>C;NG_008866.1:g.40390A>C;NM_000540.2:c.3505A>C;NM_001042723.1:c.3505A>C;NP_000531.2:p.Met1169Leu;NP_001036188.1:p.Met1169Leu 342496454 139069946 ESP2500-chr19-38959729 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38959729A>C;NG_008866.1:g.40390A>C;NM_000540.2:c.3505A>C;NM_001042723.1:c.3505A>C;NP_000531.2:p.Met1169Leu;NP_001036188.1:p.Met1169Leu 491546442 139069946 nonsyn_262668_chr_19_38959729 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959831C>T;NG_008866.1:g.40492C>T;NM_000540.2:c.3556+51C>T;NM_001042723.1:c.3556+51C>T 465586681 187986741 20101123_snps_11753911_chr19_38959831 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38959847C>T;NG_008866.1:g.40508C>T;NM_000540.2:c.3556+67C>T;NM_001042723.1:c.3556+67C>T 228135631 115751347 pilot_1_YRI_9945314_chr19_43651687 1.05e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.38959871C>T;NG_008866.1:g.40532C>T;NM_000540.2:c.3557-74C>T;NM_001042723.1:c.3557-74C>T 4931870 3745850 IMS-JST097348 1.10e-02 germline untested 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38959871C>T;NG_008866.1:g.40532C>T;NM_000540.2:c.3557-74C>T;NM_001042723.1:c.3557-74C>T 155887566 3745850 GMI_SNP_201303876 1.10e-02 germline untested 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959871C>T;NG_008866.1:g.40532C>T;NM_000540.2:c.3557-74C>T;NM_001042723.1:c.3557-74C>T 243880931 3745850 pilot_1_CHB+JPT_5766008_chr19_43651711 1.10e-02 unknown untested 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38959871C>T;NG_008866.1:g.40532C>T;NM_000540.2:c.3557-74C>T;NM_001042723.1:c.3557-74C>T 283205912 3745850 GMI_AK_SNP_7526333 1.10e-02 unknown untested 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.3557-74C>T NC_000019.9:g.38959871C>T;NG_008866.1:g.40532C>T;NM_000540.2:c.3557-74C>T;NM_001042723.1:c.3557-74C>T 475871500 3745850 RYR1_00346 1.10e-02 unknown untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38959896_38959897insG;NG_008866.1:g.40557_40558insG;NM_000540.2:c.3557-49_3557-48insG;NM_001042723.1:c.3557-49_3557-48insG 41037523 34367602 hCV32823845 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38959939C>T;NG_008866.1:g.40600C>T;NM_000540.2:c.3557-6C>T;NM_001042723.1:c.3557-6C>T 340454447 139849689 20100804_snps_12097988_chr19_38959939 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959939C>T;NG_008866.1:g.40600C>T;NM_000540.2:c.3557-6C>T;NM_001042723.1:c.3557-6C>T 491157959 139849689 20110521_exome_665757_chr19_38959939 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38959955C>T;NG_008866.1:g.40616C>T;NM_000540.2:c.3567C>T;NM_001042723.1:c.3567C>T;NP_000531.2:p.Pro1189=;NP_001036188.1:p.Pro1189= 489164416 200161205 20110521_exome_255601_chr19_38959955 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38959955C>T;NG_008866.1:g.40616C>T;NM_000540.2:c.3567C>T;NM_001042723.1:c.3567C>T;NP_000531.2:p.Pro1189=;NP_001036188.1:p.Pro1189= 491766157 200161205 SNV-chr19-43651795 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960006C>T;NG_008866.1:g.40667C>T;NM_000540.2:c.3618C>T;NM_001042723.1:c.3618C>T;NP_000531.2:p.Asp1206=;NP_001036188.1:p.Asp1206= 465586682 191970833 20101123_snps_11753912_chr19_38960006 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960006C>T;NG_008866.1:g.40667C>T;NM_000540.2:c.3618C>T;NM_001042723.1:c.3618C>T;NP_000531.2:p.Asp1206=;NP_001036188.1:p.Asp1206= 491157960 191970833 20110521_exome_665758_chr19_38960006 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38960032T>C;NG_008866.1:g.40693T>C;NM_000540.2:c.3644T>C;NM_001042723.1:c.3644T>C;NP_000531.2:p.Ile1215Thr;NP_001036188.1:p.Ile1215Thr 342496455 141518670 ESP2500-chr19-38960032 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38960201T>G;NG_008866.1:g.40862T>G;NM_000540.2:c.3765+48T>G;NM_001042723.1:c.3765+48T>G 340454448 143914691 20100804_snps_12097989_chr19_38960201 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960201T>G;NG_008866.1:g.40862T>G;NM_000540.2:c.3765+48T>G;NM_001042723.1:c.3765+48T>G 491157961 143914691 20110521_exome_665759_chr19_38960201 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38960307C>G;NG_008866.1:g.40968C>G;NM_000540.2:c.3765+154C>G;NM_001042723.1:c.3765+154C>G 203750871 76563952 BUSHMAN-chr19-43652146 4.44e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960307C>G;NG_008866.1:g.40968C>G;NM_000540.2:c.3765+154C>G;NM_001042723.1:c.3765+154C>G 211962556 76563952 YRI.trio.3.2010_1440216_chr19_43652147 4.44e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960307C>G;NG_008866.1:g.40968C>G;NM_000540.2:c.3765+154C>G;NM_001042723.1:c.3765+154C>G 228135632 76563952 pilot_1_YRI_9945315_chr19_43652147 4.44e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960335C>T;NG_008866.1:g.40996C>T;NM_000540.2:c.3765+182C>T;NM_001042723.1:c.3765+182C>T 115120205 73540988 NA19240_2008_12_16_3257566_chr19_43652175 3.20e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38960335C>T;NG_008866.1:g.40996C>T;NM_000540.2:c.3765+182C>T;NM_001042723.1:c.3765+182C>T 169706671 73540988 NA19240_36_chr19_43652175 3.20e-03 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960335C>T;NG_008866.1:g.40996C>T;NM_000540.2:c.3765+182C>T;NM_001042723.1:c.3765+182C>T 228135633 73540988 pilot_1_YRI_9945316_chr19_43652175 3.20e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38960412A>T;NG_008866.1:g.41073A>T;NM_000540.2:c.3765+259A>T;NM_001042723.1:c.3765+259A>T 137670312 77266084 ENSSNP11444308 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 GMI 6261 NC_000019.9:g.38960486delC;NG_008866.1:g.41147delC;NM_000540.2:c.3765+333delC;NM_001042723.1:c.3765+333delC 289387896 201445811 GMI_AK_INDEL_1065353 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38960487C>T;NG_008866.1:g.41148C>T;NM_000540.2:c.3765+334C>T;NM_001042723.1:c.3765+334C>T 340454449 146865065 20100804_snps_12097990_chr19_38960487 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38960493_38960494insC;NG_008866.1:g.41154_41155insC;NM_000540.2:c.3765+340_3765+341insC;NM_001042723.1:c.3765+340_3765+341insC 41021265 35127645 hCV32823846 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 BL 6261 NC_000019.9:g.38960551A>T;NG_008866.1:g.41212A>T;NM_000540.2:c.3765+398A>T;NM_001042723.1:c.3765+398A>T 255668322 114279782 SNP49610_19_43652391 2010.08.20 2010.08.20 2010.07.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38960572G>A;NG_008866.1:g.41233G>A;NM_000540.2:c.3765+419G>A;NM_001042723.1:c.3765+419G>A 465586683 185210629 20101123_snps_11753913_chr19_38960572 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38960594T>A;NG_008866.1:g.41255T>A;NM_000540.2:c.3765+441T>A;NM_001042723.1:c.3765+441T>A 340454450 140511089 20100804_snps_12097991_chr19_38960594 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38960633C>T;NG_008866.1:g.41294C>T;NM_000540.2:c.3765+480C>T;NM_001042723.1:c.3765+480C>T 465586684 190401789 20101123_snps_11753914_chr19_38960633 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38960640G>T;NG_008866.1:g.41301G>T;NM_000540.2:c.3765+487G>T;NM_001042723.1:c.3765+487G>T 283205913 202232529 GMI_AK_SNP_7526334 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38960649G>T;NG_008866.1:g.41310G>T;NM_000540.2:c.3765+496G>T;NM_001042723.1:c.3765+496G>T 465586685 192705846 20101123_snps_11753915_chr19_38960649 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38960730C>T;NG_008866.1:g.41391C>T;NM_000540.2:c.3765+577C>T;NM_001042723.1:c.3765+577C>T 171754303 112330500 NA20431_36_chr19_43652570 2.70e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38960730C>T;NG_008866.1:g.41391C>T;NM_000540.2:c.3765+577C>T;NM_001042723.1:c.3765+577C>T 208501112 112330500 BCM_CMT_1011-3124691 2.70e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960730C>T;NG_008866.1:g.41391C>T;NM_000540.2:c.3765+577C>T;NM_001042723.1:c.3765+577C>T 237674125 112330500 pilot_1_CEU_7278754_chr19_43652570 2.70e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960774C>T;NG_008866.1:g.41435C>T;NM_000540.2:c.3765+621C>T;NM_001042723.1:c.3765+621C>T 465586686 185007722 20101123_snps_11753916_chr19_38960774 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38960891_38960892insA;NG_008866.1:g.41552_41553insA;NM_000540.2:c.3765+738_3765+739insA;NM_001042723.1:c.3765+738_3765+739insA 499576266 200592601 20110316_indels_chr19_38960891_38960892 2.84e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38960901T>A;NG_008866.1:g.41562T>A;NM_000540.2:c.3765+748T>A;NM_001042723.1:c.3765+748T>A 465586687 188101668 20101123_snps_11753917_chr19_38960901 3.39e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38960995C>T;NG_008866.1:g.41656C>T;NM_000540.2:c.3765+842C>T;NM_001042723.1:c.3765+842C>T 78219126 56405506 Cor12878_SNV_20070510.chr19_43652835 2007.10.18 2007.10.18 2007.12.08 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38961011G>A;NG_008866.1:g.41672G>A;NM_000540.2:c.3765+858G>A;NM_001042723.1:c.3765+858G>A 203750872 112466040 BUSHMAN-chr19-43652850 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38961024G>A;NG_008866.1:g.41685G>A;NM_000540.2:c.3765+871G>A;NM_001042723.1:c.3765+871G>A 465586688 180912552 20101123_snps_11753918_chr19_38961024 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38961035G>A;NG_008866.1:g.41696G>A;NM_000540.2:c.3765+882G>A;NM_001042723.1:c.3765+882G>A 465586689 184518727 20101123_snps_11753919_chr19_38961035 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38961039G>T;NG_008866.1:g.41700G>T;NM_000540.2:c.3765+886G>T;NM_001042723.1:c.3765+886G>T 228135637 115876640 pilot_1_YRI_9945320_chr19_43652879 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38961229C>T;NG_008866.1:g.41890C>T;NM_000540.2:c.3765+1076C>T;NM_001042723.1:c.3765+1076C>T 340454452 145283623 20100804_snps_12097993_chr19_38961229 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38961244G>A;NG_008866.1:g.41905G>A;NM_000540.2:c.3765+1091G>A;NM_001042723.1:c.3765+1091G>A 35206793 28465366 TA-079.chr19_43653084 4.49e-02 2005.03.11 2005.05.24 2012.11.28 137 ABI 6261 NC_000019.9:g.38961244G>A;NG_008866.1:g.41905G>A;NM_000540.2:c.3765+1091G>A;NM_001042723.1:c.3765+1091G>A 40969726 28465366 hCV7821739 4.49e-02 2005.07.17 2005.07.17 2005.05.24 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38961244G>A;NG_008866.1:g.41905G>A;NM_000540.2:c.3765+1091G>A;NM_001042723.1:c.3765+1091G>A 161878498 28465366 ENSSNP1527893 4.49e-02 2009.09.26 2009.09.26 2005.05.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961244G>A;NG_008866.1:g.41905G>A;NM_000540.2:c.3765+1091G>A;NM_001042723.1:c.3765+1091G>A 211962559 28465366 YRI.trio.3.2010_1440217_chr19_43653084 4.49e-02 2010.03.31 2010.03.31 2005.05.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961244G>A;NG_008866.1:g.41905G>A;NM_000540.2:c.3765+1091G>A;NM_001042723.1:c.3765+1091G>A 228135638 28465366 pilot_1_YRI_9945321_chr19_43653084 4.49e-02 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38961275C>G;NG_008866.1:g.41936C>G;NM_000540.2:c.3765+1122C>G;NM_001042723.1:c.3765+1122C>G 169706686 113262819 NA19240_36_chr19_43653115 3.20e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961275C>G;NG_008866.1:g.41936C>G;NM_000540.2:c.3765+1122C>G;NM_001042723.1:c.3765+1122C>G 340454453 113262819 20100804_snps_12097994_chr19_38961275 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961313G>C;NG_008866.1:g.41974G>C;NM_000540.2:c.3765+1160G>C;NM_001042723.1:c.3765+1160G>C 465586690 189350284 20101123_snps_11753920_chr19_38961313 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.38961355delC;NG_008866.1:g.42016delC;NM_000540.2:c.3765+1202delC;NM_001042723.1:c.3765+1202delC 40977965 34641869 hCV32823847 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38961384A>C;NG_008866.1:g.42045A>C;NM_000540.2:c.3765+1231A>C;NM_001042723.1:c.3765+1231A>C 96305662 71356807 1103691141792 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 HGSV 6261 NC_000019.9:g.38961534G>A;NG_008866.1:g.42195G>A;NM_000540.2:c.3765+1381G>A;NM_001042723.1:c.3765+1381G>A 77570221 55741829 Cor12156_SNV_20070510.chr19_43653374 5.40e-02 2007.10.13 2007.10.13 2007.12.06 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38961534G>A;NG_008866.1:g.42195G>A;NM_000540.2:c.3765+1381G>A;NM_001042723.1:c.3765+1381G>A 228135639 55741829 pilot_1_YRI_9945322_chr19_43653374 5.40e-02 2010.04.22 2010.04.22 2007.12.06 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38961534G>A;NG_008866.1:g.42195G>A;NM_000540.2:c.3765+1381G>A;NM_001042723.1:c.3765+1381G>A 237674126 55741829 pilot_1_CEU_7278755_chr19_43653374 5.40e-02 2010.05.01 2010.05.01 2007.12.06 2011.07.08 137 BL 6261 NC_000019.9:g.38961534G>A;NG_008866.1:g.42195G>A;NM_000540.2:c.3765+1381G>A;NM_001042723.1:c.3765+1381G>A 255668328 55741829 SNP49611_19_43653374 5.40e-02 2010.08.20 2010.08.20 2007.12.06 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38961537G>A;NG_008866.1:g.42198G>A;NM_000540.2:c.3765+1384G>A;NM_001042723.1:c.3765+1384G>A 465586691 182547866 20101123_snps_11753921_chr19_38961537 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38961611A>G;NG_008866.1:g.42272A>G;NM_000540.2:c.3765+1458A>G;NM_001042723.1:c.3765+1458A>G 237674127 76170065 pilot_1_CEU_7278756_chr19_43653451 5.50e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38961619C>T;NG_008866.1:g.42280C>T;NM_000540.2:c.3765+1466C>T;NM_001042723.1:c.3765+1466C>T 465586692 186743053 20101123_snps_11753922_chr19_38961619 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38961620G>A;NG_008866.1:g.42281G>A;NM_000540.2:c.3765+1467G>A;NM_001042723.1:c.3765+1467G>A 203750873 79093079 BUSHMAN-chr19-43653459 5.22e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961620G>A;NG_008866.1:g.42281G>A;NM_000540.2:c.3765+1467G>A;NM_001042723.1:c.3765+1467G>A 211962561 79093079 YRI.trio.3.2010_1440218_chr19_43653460 5.22e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961620G>A;NG_008866.1:g.42281G>A;NM_000540.2:c.3765+1467G>A;NM_001042723.1:c.3765+1467G>A 228135640 79093079 pilot_1_YRI_9945323_chr19_43653460 5.22e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961906C>T;NG_008866.1:g.42567C>T;NM_000540.2:c.3765+1753C>T;NM_001042723.1:c.3765+1753C>T 228135641 114332780 pilot_1_YRI_9945324_chr19_43653746 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38961911G>A;NG_008866.1:g.42572G>A;NM_000540.2:c.3765+1758G>A;NM_001042723.1:c.3765+1758G>A 203750874 111805366 BUSHMAN-chr19-43653750 4.44e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961911G>A;NG_008866.1:g.42572G>A;NM_000540.2:c.3765+1758G>A;NM_001042723.1:c.3765+1758G>A 228135642 111805366 pilot_1_YRI_9945325_chr19_43653751 4.44e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38961919A>C;NG_008866.1:g.42580A>C;NM_000540.2:c.3765+1766A>C;NM_001042723.1:c.3765+1766A>C 465586693 191989164 20101123_snps_11753923_chr19_38961919 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38961995C>T;NG_008866.1:g.42656C>T;NM_000540.2:c.3765+1842C>T;NM_001042723.1:c.3765+1842C>T 465586694 181219728 20101123_snps_11753924_chr19_38961995 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962036G>A;NG_008866.1:g.42697G>A;NM_000540.2:c.3765+1883G>A;NM_001042723.1:c.3765+1883G>A 465586695 185756832 20101123_snps_11753925_chr19_38962036 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38962118C>T;NG_008866.1:g.42779C>T;NM_000540.2:c.3766-1899C>T;NM_001042723.1:c.3766-1899C>T 155887573 79028384 GMI_SNP_104166112 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38962118C>T;NG_008866.1:g.42779C>T;NM_000540.2:c.3766-1899C>T;NM_001042723.1:c.3766-1899C>T 243880934 79028384 pilot_1_CHB+JPT_5766011_chr19_43653958 1.01e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38962118C>T;NG_008866.1:g.42779C>T;NM_000540.2:c.3766-1899C>T;NM_001042723.1:c.3766-1899C>T 283205914 79028384 GMI_AK_SNP_7526335 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38962135A>C;NG_008866.1:g.42796A>C;NM_000540.2:c.3766-1882A>C;NM_001042723.1:c.3766-1882A>C 465586696 189740783 20101123_snps_11753926_chr19_38962135 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962237_38962238insC;NG_008866.1:g.42898_42899insC;NM_000540.2:c.3766-1780_3766-1779insC;NM_001042723.1:c.3766-1780_3766-1779insC 499576270 201676756 20110316_indels_chr19_38962237_38962238 8.70e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38962292G>C;NG_008866.1:g.42953G>C;NM_000540.2:c.3766-1725G>C;NM_001042723.1:c.3766-1725G>C 340454455 148252699 20100804_snps_12097996_chr19_38962292 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.38962306C>T;NG_008866.1:g.42967C>T;NM_000540.2:c.3766-1711C>T;NM_001042723.1:c.3766-1711C>T 255668334 144279623 SNP49612_19_43654146 7.97e-02 2010.08.20 2010.08.20 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38962306C>T;NG_008866.1:g.42967C>T;NM_000540.2:c.3766-1711C>T;NM_001042723.1:c.3766-1711C>T 340454456 144279623 20100804_snps_12097997_chr19_38962306 7.97e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38962362G>A;NG_008866.1:g.43023G>A;NM_000540.2:c.3766-1655G>A;NM_001042723.1:c.3766-1655G>A 465586697 182313090 20101123_snps_11753927_chr19_38962362 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962369C>T;NG_008866.1:g.43030C>T;NM_000540.2:c.3766-1648C>T;NM_001042723.1:c.3766-1648C>T 465586698 187725704 20101123_snps_11753928_chr19_38962369 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962445G>A;NG_008866.1:g.43106G>A;NM_000540.2:c.3766-1572G>A;NM_001042723.1:c.3766-1572G>A 465586699 191936360 20101123_snps_11753929_chr19_38962445 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962446G>T;NG_008866.1:g.43107G>T;NM_000540.2:c.3766-1571G>T;NM_001042723.1:c.3766-1571G>T 465586700 184246914 20101123_snps_11753930_chr19_38962446 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962483A>G;NG_008866.1:g.43144A>G;NM_000540.2:c.3766-1534A>G;NM_001042723.1:c.3766-1534A>G 228135643 115476076 pilot_1_YRI_9945326_chr19_43654323 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ABI 6261 NC_000019.9:g.38962539_38962540insA;NG_008866.1:g.43200_43201insA;NM_000540.2:c.3766-1478_3766-1477insA;NM_001042723.1:c.3766-1478_3766-1477insA 41007554 35479919 hCV32823848 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38962540delA;NG_008866.1:g.43201delA;NM_000540.2:c.3766-1477delA;NM_001042723.1:c.3766-1477delA 15236800 11355929 INDEL_GP34_WGS_366972 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38962664A>G;NG_008866.1:g.43325A>G;NM_000540.2:c.3766-1353A>G;NM_001042723.1:c.3766-1353A>G 211962563 115083050 YRI.trio.3.2010_1440219_chr19_43654504 4.49e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38962664A>G;NG_008866.1:g.43325A>G;NM_000540.2:c.3766-1353A>G;NM_001042723.1:c.3766-1353A>G 228135645 115083050 pilot_1_YRI_9945328_chr19_43654504 4.49e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38962694T>C;NG_008866.1:g.43355T>C;NM_000540.2:c.3766-1323T>C;NM_001042723.1:c.3766-1323T>C 465586701 188299644 20101123_snps_11753931_chr19_38962694 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962769C>T;NG_008866.1:g.43430C>T;NM_000540.2:c.3766-1248C>T;NM_001042723.1:c.3766-1248C>T 465586702 193190931 20101123_snps_11753932_chr19_38962769 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38962896G>A;NG_008866.1:g.43557G>A;NM_000540.2:c.3766-1121G>A;NM_001042723.1:c.3766-1121G>A 465586703 184618999 20101123_snps_11753933_chr19_38962896 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.38962955G>A;NG_008866.1:g.43616G>A;NM_000540.2:c.3766-1062G>A;NM_001042723.1:c.3766-1062G>A 21546883 12983189 WGSA-200403-chr19.chr19.NT_011109.15_11231173 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.38962956G>A;NC_000019.9:g.38962956G>C;NG_008866.1:g.43617G>A;NG_008866.1:g.43617G>C;NM_000540.2:c.3766-1061G>A;NM_000540.2:c.3766-1061G>C;NM_001042723.1:c.3766-1061G>A;NM_001042723.1:c.3766-1061G>C 21546886 12983190 WGSA-200403-chr19.chr19.NT_011109.15_11231174 9.60e-03 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38962956G>A;NC_000019.9:g.38962956G>C;NG_008866.1:g.43617G>A;NG_008866.1:g.43617G>C;NM_000540.2:c.3766-1061G>A;NM_000540.2:c.3766-1061G>C;NM_001042723.1:c.3766-1061G>A;NM_001042723.1:c.3766-1061G>C 85621259 12983190 Cor19129_SNV_20070510.chr19_43654796 9.60e-03 2007.12.09 2007.12.09 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38962956G>A;NC_000019.9:g.38962956G>C;NG_008866.1:g.43617G>A;NG_008866.1:g.43617G>C;NM_000540.2:c.3766-1061G>A;NM_000540.2:c.3766-1061G>C;NM_001042723.1:c.3766-1061G>A;NM_001042723.1:c.3766-1061G>C 340454457 12983190 20100804_snps_12097998_chr19_38962956 9.60e-03 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38962984G>T;NG_008866.1:g.43645G>T;NM_000540.2:c.3766-1033G>T;NM_001042723.1:c.3766-1033G>T 21547580 12983385 WGSA-200403-chr19.chr19.NT_011109.15_11231202 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.38963028A>T;NG_008866.1:g.43689A>T;NM_000540.2:c.3766-989A>T;NM_001042723.1:c.3766-989A>T 85457449 58183907 Cor19129_SNV_20070510.chr19_43654868 7.80e-03 2007.12.09 2007.12.09 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963028A>T;NG_008866.1:g.43689A>T;NM_000540.2:c.3766-989A>T;NM_001042723.1:c.3766-989A>T 228135646 58183907 pilot_1_YRI_9945329_chr19_43654868 7.80e-03 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 77624944 56082081 Cor12156_SNV_20070510.chr19_43654877 1.91e-01 2007.10.13 2007.10.13 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 85619611 56082081 Cor19129_SNV_20070510.chr19_43654877 1.91e-01 2007.12.09 2007.12.09 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 117702513 56082081 NA18507_000043850_NCBI36.1_chr19_43654877 1.91e-01 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 155887579 56082081 GMI_SNP_74142750 1.91e-01 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 169706708 56082081 NA19240_36_chr19_43654877 1.91e-01 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 203750875 56082081 BUSHMAN-chr19-43654876 1.91e-01 2010.03.09 2010.03.09 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 228135647 56082081 pilot_1_YRI_9945330_chr19_43654877 1.91e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 237674129 56082081 pilot_1_CEU_7278758_chr19_43654877 1.91e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 243880935 56082081 pilot_1_CHB+JPT_5766012_chr19_43654877 1.91e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 255668337 56082081 SNP49613_19_43654877 1.91e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38963037T>G;NG_008866.1:g.43698T>G;NM_000540.2:c.3766-980T>G;NM_001042723.1:c.3766-980T>G 283205915 56082081 GMI_AK_SNP_7526336 1.91e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963040C>T;NG_008866.1:g.43701C>T;NM_000540.2:c.3766-977C>T;NM_001042723.1:c.3766-977C>T 340454458 138163177 20100804_snps_12097999_chr19_38963040 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963293G>A;NG_008866.1:g.43954G>A;NM_000540.2:c.3766-724G>A;NM_001042723.1:c.3766-724G>A 228135648 115621749 pilot_1_YRI_9945331_chr19_43655133 9.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 HGSV 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 77414365 56356303 Cor12156_SNV_20070510.chr19_43655155 1.90e-01 2007.10.12 2007.10.12 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 117702516 56356303 NA18507_000043851_NCBI36.1_chr19_43655155 1.90e-01 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 155887589 56356303 GMI_SNP_40735840 1.90e-01 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 169706728 56356303 NA19240_36_chr19_43655155 1.90e-01 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 203750876 56356303 BUSHMAN-chr19-43655154 1.90e-01 2010.03.09 2010.03.09 2007.12.07 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 208546061 56356303 BCM_CMT_1011-3140012 1.90e-01 2010.03.19 2010.03.19 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 255668343 56356303 SNP49614_19_43655155 1.90e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 283205916 56356303 GMI_AK_SNP_7526337 1.90e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963315T>C;NG_008866.1:g.43976T>C;NM_000540.2:c.3766-702T>C;NM_001042723.1:c.3766-702T>C 340454459 56356303 20100804_snps_12098000_chr19_38963315 1.90e-01 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963342A>G;NG_008866.1:g.44003A>G;NM_000540.2:c.3766-675A>G;NM_001042723.1:c.3766-675A>G 465586704 187019619 20101123_snps_11753934_chr19_38963342 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38963345C>T;NG_008866.1:g.44006C>T;NM_000540.2:c.3766-672C>T;NM_001042723.1:c.3766-672C>T 10928998 7251654 chr19.NT_011109.15_11231563 2003.06.30 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38963346C>T;NG_008866.1:g.44007C>T;NM_000540.2:c.3766-671C>T;NM_001042723.1:c.3766-671C>T 340454460 150507851 20100804_snps_12098001_chr19_38963346 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963379G>T;NG_008866.1:g.44040G>T;NM_000540.2:c.3766-638G>T;NM_001042723.1:c.3766-638G>T 465586705 191117274 20101123_snps_11753935_chr19_38963379 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38963413T>C;NG_008866.1:g.44074T>C;NM_000540.2:c.3766-604T>C;NM_001042723.1:c.3766-604T>C 340454461 138549127 20100804_snps_12098002_chr19_38963413 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38963474C>A;NC_000019.9:g.38963474C>T;NG_008866.1:g.44135C>A;NG_008866.1:g.44135C>T;NM_000540.2:c.3766-543C>A;NM_000540.2:c.3766-543C>T;NM_001042723.1:c.3766-543C>A;NM_001042723.1:c.3766-543C>T 40973469 34035919 hCV32823851 2005.07.17 2005.07.17 2006.03.13 2012.05.16 137 BCMHGSC_JDW 6261 NC_000019.9:g.38963474C>A;NC_000019.9:g.38963474C>T;NG_008866.1:g.44135C>A;NG_008866.1:g.44135C>T;NM_000540.2:c.3766-543C>A;NM_000540.2:c.3766-543C>T;NM_001042723.1:c.3766-543C>A;NM_001042723.1:c.3766-543C>T 90969886 34035919 JWB-1168181 2008.03.01 2008.03.01 2006.03.13 2012.05.16 137 ABI 6261 NC_000019.9:g.38963476delA;NG_008866.1:g.44137delA;NM_000540.2:c.3766-541delA;NM_001042723.1:c.3766-541delA 41048362 34985897 hCV32823852 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HGSV 6261 NC_000019.9:g.38963496_38963497delAA;NC_000019.9:g.38963496_38963497delAAinsA;NG_008866.1:g.44157_44158delAA;NG_008866.1:g.44157_44158delAAinsA;NM_000540.2:c.3766-521_3766-520delAA;NM_000540.2:c.3766-521_3766-520delAAinsA;NM_001042723.1:c.3766-521_3766-520delAA;NM_001042723.1:c.3766-521_3766-520delAAinsA 78006176 56154916 Cor12156_DIV_20070510.chr19_43655335-43655338_1 2007.10.16 2007.10.16 2007.12.07 2012.05.16 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38963496_38963497delAA;NC_000019.9:g.38963496_38963497delAAinsA;NG_008866.1:g.44157_44158delAA;NG_008866.1:g.44157_44158delAAinsA;NM_000540.2:c.3766-521_3766-520delAA;NM_000540.2:c.3766-521_3766-520delAAinsA;NM_001042723.1:c.3766-521_3766-520delAA;NM_001042723.1:c.3766-521_3766-520delAAinsA 95728336 56154916 1104685411601 2008.03.23 2008.12.03 2007.12.07 2012.05.16 137 1000GENOMES 6261 NC_000019.9:g.38963524C>T;NG_008866.1:g.44185C>T;NM_000540.2:c.3766-493C>T;NM_001042723.1:c.3766-493C>T 211962565 114390995 YRI.trio.3.2010_1440220_chr19_43655364 4.44e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963524C>T;NG_008866.1:g.44185C>T;NM_000540.2:c.3766-493C>T;NM_001042723.1:c.3766-493C>T 228135649 114390995 pilot_1_YRI_9945332_chr19_43655364 4.44e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963564A>G;NG_008866.1:g.44225A>G;NM_000540.2:c.3766-453A>G;NM_001042723.1:c.3766-453A>G 340454462 149266118 20100804_snps_12098003_chr19_38963564 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38963617T>C;NG_008866.1:g.44278T>C;NM_000540.2:c.3766-400T>C;NM_001042723.1:c.3766-400T>C 228135650 115163794 pilot_1_YRI_9945333_chr19_43655457 4.44e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38963629C>T;NG_008866.1:g.44290C>T;NM_000540.2:c.3766-388C>T;NM_001042723.1:c.3766-388C>T 16803227 11671440 CSHL-HuAA-200402.chr19.NT_011109.15_11231847 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38963656_38963657insA;NG_008866.1:g.44317_44318insA;NM_000540.2:c.3766-361_3766-360insA;NM_001042723.1:c.3766-361_3766-360insA 101188373 72128445 INDEL_GP36_2008a_2020443_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 GMI 6261 NC_000019.9:g.38963656delA;NG_008866.1:g.44317delA;NM_000540.2:c.3766-361delA;NM_001042723.1:c.3766-361delA 289387897 199613372 GMI_AK_INDEL_1065354 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 ILLUMINA 6261 NC_000019.9:g.38963671A>G;NG_008866.1:g.44332A>G;NM_000540.2:c.3766-346A>G;NM_001042723.1:c.3766-346A>G 482315978 201873121 HumanOmni2.5-4v1_D_kgp21328530-0_B_R_1844009364 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38963671A>G;NG_008866.1:g.44332A>G;NM_000540.2:c.3766-346A>G;NM_001042723.1:c.3766-346A>G 483825911 201873121 HumanOmni2.5-4v1_B_SNP19-43655511-0_B_R_1637761205 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963765T>C;NG_008866.1:g.44426T>C;NM_000540.2:c.3766-252T>C;NM_001042723.1:c.3766-252T>C 340454463 144476355 20100804_snps_12098004_chr19_38963765 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.38963780G>A;NG_008866.1:g.44441G>A;NM_000540.2:c.3766-237G>A;NM_001042723.1:c.3766-237G>A 283205917 200387575 GMI_AK_SNP_7526338 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ILLUMINA-UK 6261 NC_000019.9:g.38963854C>G;NG_008866.1:g.44515C>G;NM_000540.2:c.3766-163C>G;NM_001042723.1:c.3766-163C>G 117702518 73930590 NA18507_000043852_NCBI36.1_chr19_43655694 1.56e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963854C>G;NG_008866.1:g.44515C>G;NM_000540.2:c.3766-163C>G;NM_001042723.1:c.3766-163C>G 340454464 73930590 20100804_snps_12098005_chr19_38963854 1.56e-02 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963933G>C;NG_008866.1:g.44594G>C;NM_000540.2:c.3766-84G>C;NM_001042723.1:c.3766-84G>C 465586706 183584971 20101123_snps_11753936_chr19_38963933 1.05e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38963960C>A;NG_008866.1:g.44621C>A;NM_000540.2:c.3766-57C>A;NM_001042723.1:c.3766-57C>A 465586707 188328065 20101123_snps_11753937_chr19_38963960 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 6261 NC_000019.9:g.38963979G>C;NG_008866.1:g.44640G>C;NM_000540.2:c.3766-38G>C;NM_001042723.1:c.3766-38G>C 491766158 201504947 SNV-chr19-43655819 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963983G>A;NG_008866.1:g.44644G>A;NM_000540.2:c.3766-34G>A;NM_001042723.1:c.3766-34G>A 228135652 116157942 pilot_1_YRI_9945335_chr19_43655823 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38963983G>A;NG_008866.1:g.44644G>A;NM_000540.2:c.3766-34G>A;NM_001042723.1:c.3766-34G>A 491157962 116157942 20110521_exome_665760_chr19_38963983 7.80e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38964051C>G;NG_008866.1:g.44712C>G;NM_000540.2:c.3800C>G;NM_001042723.1:c.3800C>G;NP_000531.2:p.Pro1267Arg;NP_001036188.1:p.Pro1267Arg 342496456 150495044 ESP2500-chr19-38964051 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38964061C>T;NG_008866.1:g.44722C>T;NM_000540.2:c.3810C>T;NM_001042723.1:c.3810C>T;NP_000531.2:p.Arg1270=;NP_001036188.1:p.Arg1270= 489164418 202133565 20110521_exome_255602_chr19_38964061 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38964109T>C;NG_008866.1:g.44770T>C;NM_000540.2:c.3858T>C;NM_001042723.1:c.3858T>C;NP_000531.2:p.Leu1286=;NP_001036188.1:p.Leu1286= 23763116 16972636 afd3515956 5.22e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38964109T>C;NG_008866.1:g.44770T>C;NM_000540.2:c.3858T>C;NM_001042723.1:c.3858T>C;NP_000531.2:p.Leu1286=;NP_001036188.1:p.Leu1286= 159739623 16972636 RYR1-43655949 5.22e-02 2009.07.10 2009.07.10 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964109T>C;NG_008866.1:g.44770T>C;NM_000540.2:c.3858T>C;NM_001042723.1:c.3858T>C;NP_000531.2:p.Leu1286=;NP_001036188.1:p.Leu1286= 228135653 16972636 pilot_1_YRI_9945336_chr19_43655949 5.22e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38964109T>C;NG_008866.1:g.44770T>C;NM_000540.2:c.3858T>C;NM_001042723.1:c.3858T>C;NP_000531.2:p.Leu1286=;NP_001036188.1:p.Leu1286= 342496457 16972636 ESP2500-chr19-38964109 5.22e-02 2011.03.27 2011.03.27 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964109T>C;NG_008866.1:g.44770T>C;NM_000540.2:c.3858T>C;NM_001042723.1:c.3858T>C;NP_000531.2:p.Leu1286=;NP_001036188.1:p.Leu1286= 491157963 16972636 20110521_exome_665761_chr19_38964109 5.22e-02 2012.02.22 2012.02.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964127C>A;NG_008866.1:g.44788C>A;NM_000540.2:c.3876C>A;NM_001042723.1:c.3876C>A;NP_000531.2:p.Leu1292=;NP_001036188.1:p.Leu1292= 340454465 143750836 20100804_snps_12098006_chr19_38964127 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38964127C>A;NG_008866.1:g.44788C>A;NM_000540.2:c.3876C>A;NM_001042723.1:c.3876C>A;NP_000531.2:p.Leu1292=;NP_001036188.1:p.Leu1292= 342496458 143750836 ESP2500-chr19-38964127 6.90e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964127C>A;NG_008866.1:g.44788C>A;NM_000540.2:c.3876C>A;NM_001042723.1:c.3876C>A;NP_000531.2:p.Leu1292=;NP_001036188.1:p.Leu1292= 491157964 143750836 20110521_exome_665762_chr19_38964127 6.90e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964128C>A;NG_008866.1:g.44789C>A;NM_000540.2:c.3877C>A;NM_001042723.1:c.3877C>A;NP_000531.2:p.Pro1293Thr;NP_001036188.1:p.Pro1293Thr 340454466 146407179 20100804_snps_12098007_chr19_38964128 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38964175G>C;NG_008866.1:g.44836G>C;NM_000540.2:c.3924G>C;NM_001042723.1:c.3924G>C;NP_000531.2:p.Pro1308=;NP_001036188.1:p.Pro1308= 342496459 144350050 ESP2500-chr19-38964175 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38964197C>A;NG_008866.1:g.44858C>A;NM_000540.2:c.3946C>A;NM_001042723.1:c.3946C>A;NP_000531.2:p.Pro1316Thr;NP_001036188.1:p.Pro1316Thr 489164420 200894780 20110521_exome_255603_chr19_38964197 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38964197C>A;NG_008866.1:g.44858C>A;NM_000540.2:c.3946C>A;NM_001042723.1:c.3946C>A;NP_000531.2:p.Pro1316Thr;NP_001036188.1:p.Pro1316Thr 491546443 200894780 nonsyn_262669_chr_19_38964197 1.40e-03 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964223G>A;NG_008866.1:g.44884G>A;NM_000540.2:c.3972G>A;NM_001042723.1:c.3972G>A;NP_000531.2:p.Ala1324=;NP_001036188.1:p.Ala1324= 489164422 200451188 20110521_exome_255604_chr19_38964223 3.20e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 48401739 34694816 hCV25630458 5.22e-02 unknown untested 2005.11.30 2006.11.03 2006.03.14 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 69228163 34694816 PGP17793033 5.22e-02 germline untested 2007.01.30 2008.03.31 2006.03.14 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 159739624 34694816 RYR1-43656115 5.22e-02 unknown untested 2009.07.10 2009.07.10 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 211962567 34694816 YRI.trio.3.2010_1440221_chr19_43656115 5.22e-02 unknown untested 2010.03.31 2010.03.31 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 228135654 34694816 pilot_1_YRI_9945337_chr19_43656115 5.22e-02 unknown untested 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4024A>G NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 475871501 34694816 RYR1_00142 5.22e-02 unknown untested 2011.11.25 2011.11.25 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 491157965 34694816 20110521_exome_665763_chr19_38964275 5.22e-02 unknown untested 2012.02.22 2012.02.22 2006.03.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38964275A>G;NG_008866.1:g.44936A>G;NM_000540.2:c.4024A>G;NM_001042723.1:c.4024A>G;NP_000531.2:p.Ser1342Gly;NP_001036188.1:p.Ser1342Gly 491546444 34694816 nonsyn_262670_chr_19_38964275 5.22e-02 germline untested 2012.03.06 2012.03.06 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964277C>A;NG_008866.1:g.44938C>A;NM_000540.2:c.4026C>A;NM_001042723.1:c.4026C>A;NP_000531.2:p.Ser1342Arg;NP_001036188.1:p.Ser1342Arg 465586708 182004703 20101123_snps_11753938_chr19_38964277 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964277C>A;NG_008866.1:g.44938C>A;NM_000540.2:c.4026C>A;NM_001042723.1:c.4026C>A;NP_000531.2:p.Ser1342Arg;NP_001036188.1:p.Ser1342Arg 491157966 182004703 20110521_exome_665764_chr19_38964277 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38964277C>A;NG_008866.1:g.44938C>A;NM_000540.2:c.4026C>A;NM_001042723.1:c.4026C>A;NP_000531.2:p.Ser1342Arg;NP_001036188.1:p.Ser1342Arg 491546445 182004703 nonsyn_262671_chr_19_38964277 9.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 POPS 6261 NC_000019.9:g.38964306C>G;NG_008866.1:g.44967C>G;NM_000540.2:c.4055C>G;NM_001042723.1:c.4055C>G;NP_000531.2:p.Ala1352Gly;NP_001036188.1:p.Ala1352Gly 182258907 112105381 MHY7 6.90e-03 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964306C>G;NG_008866.1:g.44967C>G;NM_000540.2:c.4055C>G;NM_001042723.1:c.4055C>G;NP_000531.2:p.Ala1352Gly;NP_001036188.1:p.Ala1352Gly 340454467 112105381 20100804_snps_12098008_chr19_38964306 6.90e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964306C>G;NG_008866.1:g.44967C>G;NM_000540.2:c.4055C>G;NM_001042723.1:c.4055C>G;NP_000531.2:p.Ala1352Gly;NP_001036188.1:p.Ala1352Gly 491157967 112105381 20110521_exome_665765_chr19_38964306 6.90e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38964306C>G;NG_008866.1:g.44967C>G;NM_000540.2:c.4055C>G;NM_001042723.1:c.4055C>G;NP_000531.2:p.Ala1352Gly;NP_001036188.1:p.Ala1352Gly 491546446 112105381 nonsyn_262672_chr_19_38964306 6.90e-03 2012.03.06 2012.03.06 2010.07.04 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38964341G>T;NG_008866.1:g.45002G>T;NM_000540.2:c.4090G>T;NM_001042723.1:c.4090G>T;NP_000531.2:p.Gly1364Trp;NP_001036188.1:p.Gly1364Trp 48401738 35869497 hCV25922942 2005.11.30 2005.11.30 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964354A>C;NG_008866.1:g.45015A>C;NM_000540.2:c.4103A>C;NM_001042723.1:c.4103A>C;NP_000531.2:p.Gln1368Pro;NP_001036188.1:p.Gln1368Pro 465586709 185821937 20101123_snps_11753939_chr19_38964354 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 17624985 11882640 CSHL-HuCC-200402.chr19.NT_011109.15_11232576 2.43e-02 germline untested 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 44164390 11882640 hCV7821738 2.43e-02 unknown untested 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 48430269 11882640 hCV7821738 2.43e-02 germline untested 2005.11.30 2006.11.03 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 74990341 11882640 ILMN_Human_1M_rs11882640 2.43e-02 germline untested 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 119726289 11882640 KHS1822807 2.43e-02 germline untested 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 161878499 11882640 ENSSNP1527895 2.43e-02 germline untested 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 171679156 11882640 Human1M-Duov3_B_rs11882640-128_T_R_1513958121 2.43e-02 unknown untested 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 228135655 11882640 pilot_1_YRI_9945338_chr19_43656198 2.43e-02 unknown untested 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4107C>T NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 475871502 11882640 RYR1_00009 2.43e-02 unknown untested 2011.11.25 2011.11.25 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 482354892 11882640 HumanOmni2.5-4v1_D_kgp21546690-0_T_R_1844445651 2.43e-02 unknown untested 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 483825913 11882640 HumanOmni2.5-4v1_B_SNP19-43656198-0_T_R_1647525484 2.43e-02 unknown untested 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964358C>T;NG_008866.1:g.45019C>T;NM_000540.2:c.4107C>T;NM_001042723.1:c.4107C>T;NP_000531.2:p.Pro1369=;NP_001036188.1:p.Pro1369= 491157968 11882640 20110521_exome_665766_chr19_38964358 2.43e-02 unknown untested 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964412G>C;NG_008866.1:g.45073G>C;NM_000540.2:c.4160+1G>C;NM_001042723.1:c.4160+1G>C 169117096 113460156 Human1M-Duov3_B_GA034478-0_B_F_1533481696 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.38964414G>T;NG_008866.1:g.45075G>T;NM_000540.2:c.4160+3G>T;NM_001042723.1:c.4160+3G>T 168988748 113773354 Human1M-Duov3_B_GA016290-0_B_F_1533441882 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38964490A>C;NG_008866.1:g.45151A>C;NM_000540.2:c.4160+79A>C;NM_001042723.1:c.4160+79A>C 211962569 114989580 YRI.trio.3.2010_1440222_chr19_43656330 2.38e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964490A>C;NG_008866.1:g.45151A>C;NM_000540.2:c.4160+79A>C;NM_001042723.1:c.4160+79A>C 228135656 114989580 pilot_1_YRI_9945339_chr19_43656330 2.38e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 23763119 16972639 afd3509138 4.44e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 67513523 16972639 HumanHap650Yv1.0_rs16972639 4.44e-02 2006.11.14 2006.11.14 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 71202861 16972639 HumanHap650Yv3.0_rs16972639 4.44e-02 2007.04.23 2007.04.23 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 75343208 16972639 ILMN_Human_1M_rs16972639 4.44e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 119859411 16972639 KHS1882720 4.44e-02 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 160404875 16972639 HumanOmni1-Quad_v1-0_B_rs16972639-128_B_F_1502335581 4.44e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 172686583 16972639 Human1M-Duov3_B_rs16972639-128_B_F_1502335581 4.44e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 211962571 16972639 YRI.trio.3.2010_1440223_chr19_43656365 4.44e-02 2010.03.31 2010.03.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 228135657 16972639 pilot_1_YRI_9945340_chr19_43656365 4.44e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 480128061 16972639 HumanOmni2.5-4v1_B_rs16972639-128_B_F_1773492676 4.44e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 480137115 16972639 HumanOmniExpress-12v1_C_rs16972639-131_B_F_1857680323 4.44e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 480836451 16972639 HumanOmni1-Quad_v1-0_C_rs16972639-131_B_F_1865165306 4.44e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38964525T>G;NG_008866.1:g.45186T>G;NM_000540.2:c.4160+114T>G;NM_001042723.1:c.4160+114T>G 484862019 16972639 HumanOmni2.5-4v1_D_rs16972639-131_B_F_1857680323 4.44e-02 2012.02.04 2012.02.04 2004.09.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38964541A>G;NG_008866.1:g.45202A>G;NM_000540.2:c.4160+130A>G;NM_001042723.1:c.4160+130A>G 24683477 17707979 afd3509139 5.31e-02 2004.08.21 2004.09.13 2004.09.20 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964541A>G;NG_008866.1:g.45202A>G;NM_000540.2:c.4160+130A>G;NM_001042723.1:c.4160+130A>G 228135658 17707979 pilot_1_YRI_9945341_chr19_43656381 5.31e-02 2010.04.22 2010.04.22 2004.09.20 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964541A>G;NG_008866.1:g.45202A>G;NM_000540.2:c.4160+130A>G;NM_001042723.1:c.4160+130A>G 237674130 17707979 pilot_1_CEU_7278759_chr19_43656381 5.31e-02 2010.05.01 2010.05.01 2004.09.20 2011.09.09 137 BL 6261 NC_000019.9:g.38964541A>G;NG_008866.1:g.45202A>G;NM_000540.2:c.4160+130A>G;NM_001042723.1:c.4160+130A>G 255668347 17707979 SNP49615_19_43656381 5.31e-02 2010.08.20 2010.08.20 2004.09.20 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964554A>G;NG_008866.1:g.45215A>G;NM_000540.2:c.4160+143A>G;NM_001042723.1:c.4160+143A>G 340454468 142828035 20100804_snps_12098009_chr19_38964554 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964677A>G;NG_008866.1:g.45338A>G;NM_000540.2:c.4160+266A>G;NM_001042723.1:c.4160+266A>G 228135659 114960702 pilot_1_YRI_9945342_chr19_43656517 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964763T>C;NG_008866.1:g.45424T>C;NM_000540.2:c.4160+352T>C;NM_001042723.1:c.4160+352T>C 340454469 151030382 20100804_snps_12098010_chr19_38964763 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38964925T>G;NG_008866.1:g.45586T>G;NM_000540.2:c.4160+514T>G;NM_001042723.1:c.4160+514T>G 137670315 74419211 ENSSNP11444309 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38964943G>A;NG_008866.1:g.45604G>A;NM_000540.2:c.4160+532G>A;NM_001042723.1:c.4160+532G>A 465586710 189847412 20101123_snps_11753940_chr19_38964943 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38964963C>T;NG_008866.1:g.45624C>T;NM_000540.2:c.4160+552C>T;NM_001042723.1:c.4160+552C>T 340454470 140921213 20100804_snps_12098011_chr19_38964963 2.47e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38965045G>A;NG_008866.1:g.45706G>A;NM_000540.2:c.4160+634G>A;NM_001042723.1:c.4160+634G>A 169706755 113348609 NA19240_36_chr19_43656885 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965050G>T;NG_008866.1:g.45711G>T;NM_000540.2:c.4160+639G>T;NM_001042723.1:c.4160+639G>T 465586711 182064275 20101123_snps_11753941_chr19_38965050 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38965064A>G;NG_008866.1:g.45725A>G;NM_000540.2:c.4160+653A>G;NM_001042723.1:c.4160+653A>G 10943752 7259884 chr19.NT_011109.15_11233282 1.70e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38965064A>G;NG_008866.1:g.45725A>G;NM_000540.2:c.4160+653A>G;NM_001042723.1:c.4160+653A>G 155887595 7259884 GMI_SNP_282989080 1.70e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38965064A>G;NG_008866.1:g.45725A>G;NM_000540.2:c.4160+653A>G;NM_001042723.1:c.4160+653A>G 283205918 7259884 GMI_AK_SNP_7526339 1.70e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38965064A>G;NG_008866.1:g.45725A>G;NM_000540.2:c.4160+653A>G;NM_001042723.1:c.4160+653A>G 292248482 7259884 SNP_1754840_chr19_43656904 1.70e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965064A>G;NG_008866.1:g.45725A>G;NM_000540.2:c.4160+653A>G;NM_001042723.1:c.4160+653A>G 340454471 7259884 20100804_snps_12098012_chr19_38965064 1.70e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965065G>C;NG_008866.1:g.45726G>C;NM_000540.2:c.4160+654G>C;NM_001042723.1:c.4160+654G>C 465586712 185522882 20101123_snps_11753942_chr19_38965065 1.56e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38965118G>T;NG_008866.1:g.45779G>T;NM_000540.2:c.4160+707G>T;NM_001042723.1:c.4160+707G>T 465586713 190286406 20101123_snps_11753943_chr19_38965118 7.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38965188C>T;NG_008866.1:g.45849C>T;NM_000540.2:c.4161-770C>T;NM_001042723.1:c.4161-770C>T 340454472 145740326 20100804_snps_12098013_chr19_38965188 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965190A>T;NG_008866.1:g.45851A>T;NM_000540.2:c.4161-768A>T;NM_001042723.1:c.4161-768A>T 465586714 181407750 20101123_snps_11753944_chr19_38965190 1.69e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.38965205T>C;NG_008866.1:g.45866T>C;NM_000540.2:c.4161-753T>C;NM_001042723.1:c.4161-753T>C 21509648 11432921 WGSA-200403-chr19.chr19.NT_011109.15_11233423 2004.03.20 2004.03.20 2004.02.28 2012.12.05 137 SSAHASNP 6261 NC_000019.9:g.38965205T>C;NG_008866.1:g.45866T>C;NM_000540.2:c.4161-753T>C;NM_001042723.1:c.4161-753T>C 35391035 11432921 TA-079.chr19_43657045 2005.03.11 2004.02.28 2012.12.05 137 DEVINE_LAB 6261 NC_000019.9:g.38965205delT;NC_000019.9:g.38965205delTinsTTTT;NG_008866.1:g.45866delT;NG_008866.1:g.45866delTinsTTTT;NM_000540.2:c.4161-753delT;NM_000540.2:c.4161-753delTinsTTTT;NM_001042723.1:c.4161-753delT;NM_001042723.1:c.4161-753delTinsTTTT 102081544 72347878 INDEL_GP36_2008a_2729362_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38965237T>A;NG_008866.1:g.45898T>A;NM_000540.2:c.4161-721T>A;NM_001042723.1:c.4161-721T>A 14691283 10401870 chr19.NT_011109.15_11233455 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.38965260T>G;NG_008866.1:g.45921T>G;NM_000540.2:c.4161-698T>G;NM_001042723.1:c.4161-698T>G 10918646 7245897 chr19.NT_011109.15_11233478 1.67e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38965260T>G;NG_008866.1:g.45921T>G;NM_000540.2:c.4161-698T>G;NM_001042723.1:c.4161-698T>G 169706773 7245897 NA19240_36_chr19_43657100 1.67e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38965260T>G;NG_008866.1:g.45921T>G;NM_000540.2:c.4161-698T>G;NM_001042723.1:c.4161-698T>G 255668353 7245897 SNP49616_19_43657100 1.67e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38965260T>G;NG_008866.1:g.45921T>G;NM_000540.2:c.4161-698T>G;NM_001042723.1:c.4161-698T>G 283205919 7245897 GMI_AK_SNP_7526340 1.67e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965260T>G;NG_008866.1:g.45921T>G;NM_000540.2:c.4161-698T>G;NM_001042723.1:c.4161-698T>G 340454473 7245897 20100804_snps_12098014_chr19_38965260 1.67e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965275C>T;NG_008866.1:g.45936C>T;NM_000540.2:c.4161-683C>T;NM_001042723.1:c.4161-683C>T 340454474 146983513 20100804_snps_12098015_chr19_38965275 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38965307T>C;NG_008866.1:g.45968T>C;NM_000540.2:c.4161-651T>C;NM_001042723.1:c.4161-651T>C 10918871 7246023 chr19.NT_011109.15_11233525 1.81e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38965307T>C;NG_008866.1:g.45968T>C;NM_000540.2:c.4161-651T>C;NM_001042723.1:c.4161-651T>C 169706795 7246023 NA19240_36_chr19_43657147 1.81e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38965307T>C;NG_008866.1:g.45968T>C;NM_000540.2:c.4161-651T>C;NM_001042723.1:c.4161-651T>C 203750877 7246023 BUSHMAN-chr19-43657146 1.81e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965307T>C;NG_008866.1:g.45968T>C;NM_000540.2:c.4161-651T>C;NM_001042723.1:c.4161-651T>C 340454475 7246023 20100804_snps_12098016_chr19_38965307 1.81e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965421G>T;NG_008866.1:g.46082G>T;NM_000540.2:c.4161-537G>T;NM_001042723.1:c.4161-537G>T 340454476 142260760 20100804_snps_12098017_chr19_38965421 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965495A>G;NG_008866.1:g.46156A>G;NM_000540.2:c.4161-463A>G;NM_001042723.1:c.4161-463A>G 115120231 73540991 NA19240_2008_12_16_3257569_chr19_43657335 2008.12.19 2008.12.19 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38965495A>G;NG_008866.1:g.46156A>G;NM_000540.2:c.4161-463A>G;NM_001042723.1:c.4161-463A>G 169706818 73540991 NA19240_36_chr19_43657335 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38965562G>A;NG_008866.1:g.46223G>A;NM_000540.2:c.4161-396G>A;NM_001042723.1:c.4161-396G>A 203750878 113748571 BUSHMAN-chr19-43657401 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965618G>T;NG_008866.1:g.46279G>T;NM_000540.2:c.4161-340G>T;NM_001042723.1:c.4161-340G>T 465586715 185301253 20101123_snps_11753945_chr19_38965618 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38965620C>G;NG_008866.1:g.46281C>G;NM_000540.2:c.4161-338C>G;NM_001042723.1:c.4161-338C>G 465586716 191148421 20101123_snps_11753946_chr19_38965620 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38965644C>T;NG_008866.1:g.46305C>T;NM_000540.2:c.4161-314C>T;NM_001042723.1:c.4161-314C>T 283205920 200558884 GMI_AK_SNP_7526341 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38965662T>C;NG_008866.1:g.46323T>C;NM_000540.2:c.4161-296T>C;NM_001042723.1:c.4161-296T>C 340454477 143043459 20100804_snps_12098018_chr19_38965662 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965667G>A;NG_008866.1:g.46328G>A;NM_000540.2:c.4161-291G>A;NM_001042723.1:c.4161-291G>A 465586717 183814187 20101123_snps_11753947_chr19_38965667 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 77203632 56278664 Cor12156_SNV_20070510.chr19_43657552 1.79e-01 2007.10.09 2007.10.11 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 117702520 56278664 NA18507_000043853_NCBI36.1_chr19_43657552 1.79e-01 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 155887603 56278664 GMI_SNP_74314894 1.79e-01 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 169706849 56278664 NA19240_36_chr19_43657552 1.79e-01 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 203750879 56278664 BUSHMAN-chr19-43657551 1.79e-01 2010.03.09 2010.03.09 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 211962574 56278664 YRI.trio.3.2010_1440224_chr19_43657552 1.79e-01 2010.03.31 2010.03.31 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 228135660 56278664 pilot_1_YRI_9945343_chr19_43657552 1.79e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 237674132 56278664 pilot_1_CEU_7278761_chr19_43657552 1.79e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 243880936 56278664 pilot_1_CHB+JPT_5766013_chr19_43657552 1.79e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 255668357 56278664 SNP49617_19_43657552 1.79e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38965712A>C;NG_008866.1:g.46373A>C;NM_000540.2:c.4161-246A>C;NM_001042723.1:c.4161-246A>C 283205921 56278664 GMI_AK_SNP_7526342 1.79e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38965726T>G;NG_008866.1:g.46387T>G;NM_000540.2:c.4161-232T>G;NM_001042723.1:c.4161-232T>G 155887608 80199243 GMI_SNP_515973777 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965726T>G;NG_008866.1:g.46387T>G;NM_000540.2:c.4161-232T>G;NM_001042723.1:c.4161-232T>G 283205922 80199243 GMI_AK_SNP_7526343 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965727C>G;NG_008866.1:g.46388C>G;NM_000540.2:c.4161-231C>G;NM_001042723.1:c.4161-231C>G 155887615 78338499 GMI_SNP_516880544 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965727C>G;NG_008866.1:g.46388C>G;NM_000540.2:c.4161-231C>G;NM_001042723.1:c.4161-231C>G 283205923 78338499 GMI_AK_SNP_7526344 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965728C>T;NG_008866.1:g.46389C>T;NM_000540.2:c.4161-230C>T;NM_001042723.1:c.4161-230C>T 155887623 74720798 GMI_SNP_516730053 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965728C>T;NG_008866.1:g.46389C>T;NM_000540.2:c.4161-230C>T;NM_001042723.1:c.4161-230C>T 283205924 74720798 GMI_AK_SNP_7526345 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965729A>G;NG_008866.1:g.46390A>G;NM_000540.2:c.4161-229A>G;NM_001042723.1:c.4161-229A>G 155887630 78737392 GMI_SNP_516948692 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38965729A>G;NG_008866.1:g.46390A>G;NM_000540.2:c.4161-229A>G;NM_001042723.1:c.4161-229A>G 283205925 78737392 GMI_AK_SNP_7526346 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 HGSV 6261 NC_000019.9:g.38965734C>T;NG_008866.1:g.46395C>T;NM_000540.2:c.4161-224C>T;NM_001042723.1:c.4161-224C>T 77270453 56373685 Cor12156_SNV_20070510.chr19_43657574 8.06e-02 2007.10.10 2007.10.12 2007.12.08 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38965734C>T;NG_008866.1:g.46395C>T;NM_000540.2:c.4161-224C>T;NM_001042723.1:c.4161-224C>T 228135661 56373685 pilot_1_YRI_9945344_chr19_43657574 8.06e-02 2010.04.22 2010.04.22 2007.12.08 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38965734C>T;NG_008866.1:g.46395C>T;NM_000540.2:c.4161-224C>T;NM_001042723.1:c.4161-224C>T 237674133 56373685 pilot_1_CEU_7278762_chr19_43657574 8.06e-02 2010.05.01 2010.05.01 2007.12.08 2011.07.08 137 BL 6261 NC_000019.9:g.38965734C>T;NG_008866.1:g.46395C>T;NM_000540.2:c.4161-224C>T;NM_001042723.1:c.4161-224C>T 255668362 56373685 SNP49618_19_43657574 8.06e-02 2010.08.20 2010.08.20 2007.12.08 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38965744G>A;NG_008866.1:g.46405G>A;NM_000540.2:c.4161-214G>A;NM_001042723.1:c.4161-214G>A 465586718 189123511 20101123_snps_11753948_chr19_38965744 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38965776C>T;NG_008866.1:g.46437C>T;NM_000540.2:c.4161-182C>T;NM_001042723.1:c.4161-182C>T 340454478 148197236 20100804_snps_12098019_chr19_38965776 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965777G>A;NG_008866.1:g.46438G>A;NM_000540.2:c.4161-181G>A;NM_001042723.1:c.4161-181G>A 340454479 141128164 20100804_snps_12098020_chr19_38965777 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965789A>G;NG_008866.1:g.46450A>G;NM_000540.2:c.4161-169A>G;NM_001042723.1:c.4161-169A>G 111365438 73046907 CEU.trio.12.15.2008_3616616_chr19_43657629 8.70e-03 2008.12.17 2008.12.17 2009.02.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38965789A>G;NG_008866.1:g.46450A>G;NM_000540.2:c.4161-169A>G;NM_001042723.1:c.4161-169A>G 237674134 73046907 pilot_1_CEU_7278763_chr19_43657629 8.70e-03 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38965826C>G;NG_008866.1:g.46487C>G;NM_000540.2:c.4161-132C>G;NM_001042723.1:c.4161-132C>G 465586719 191476979 20101123_snps_11753949_chr19_38965826 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38965884G>T;NG_008866.1:g.46545G>T;NM_000540.2:c.4161-74G>T;NM_001042723.1:c.4161-74G>T 203750880 112210268 BUSHMAN-chr19-43657723 4.44e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965884G>T;NG_008866.1:g.46545G>T;NM_000540.2:c.4161-74G>T;NM_001042723.1:c.4161-74G>T 211962576 112210268 YRI.trio.3.2010_1440225_chr19_43657724 4.44e-02 2010.03.31 2010.03.31 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965884G>T;NG_008866.1:g.46545G>T;NM_000540.2:c.4161-74G>T;NM_001042723.1:c.4161-74G>T 228135662 112210268 pilot_1_YRI_9945345_chr19_43657724 4.44e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38965884G>T;NG_008866.1:g.46545G>T;NM_000540.2:c.4161-74G>T;NM_001042723.1:c.4161-74G>T 482342609 112210268 HumanOmni2.5-4v1_D_kgp21477909-0_B_F_1844308097 4.44e-02 2012.02.01 2012.02.01 2010.07.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38965884G>T;NG_008866.1:g.46545G>T;NM_000540.2:c.4161-74G>T;NM_001042723.1:c.4161-74G>T 483825917 112210268 HumanOmni2.5-4v1_B_SNP19-43657724-0_B_F_1640507215 4.44e-02 2012.02.03 2012.02.03 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965890A>G;NG_008866.1:g.46551A>G;NM_000540.2:c.4161-68A>G;NM_001042723.1:c.4161-68A>G 340454480 150745225 20100804_snps_12098021_chr19_38965890 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38965912T>G;NG_008866.1:g.46573T>G;NM_000540.2:c.4161-46T>G;NM_001042723.1:c.4161-46T>G 489164424 199514828 20110521_exome_255605_chr19_38965912 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965937C>T;NG_008866.1:g.46598C>T;NM_000540.2:c.4161-21C>T;NM_001042723.1:c.4161-21C>T 465586720 182909318 20101123_snps_11753950_chr19_38965937 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965937C>T;NG_008866.1:g.46598C>T;NM_000540.2:c.4161-21C>T;NM_001042723.1:c.4161-21C>T 491157969 182909318 20110521_exome_665767_chr19_38965937 2.30e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 HGSV 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 77399678 55845760 Cor12156_SNV_20070510.chr19_43657792 1.76e-01 2007.10.10 2007.10.12 2007.12.06 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 117702522 55845760 NA18507_000043854_NCBI36.1_chr19_43657792 1.76e-01 2009.01.20 2009.01.20 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 155887636 55845760 GMI_SNP_74137524 1.76e-01 2009.06.24 2009.06.24 2007.12.06 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 203750881 55845760 BUSHMAN-chr19-43657791 1.76e-01 2010.03.09 2010.03.09 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 211962578 55845760 YRI.trio.3.2010_1440226_chr19_43657792 1.76e-01 2010.03.31 2010.03.31 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 228135663 55845760 pilot_1_YRI_9945346_chr19_43657792 1.76e-01 2010.04.22 2010.04.22 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 237674135 55845760 pilot_1_CEU_7278764_chr19_43657792 1.76e-01 2010.05.01 2010.05.01 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 243880937 55845760 pilot_1_CHB+JPT_5766014_chr19_43657792 1.76e-01 2010.05.01 2010.05.01 2007.12.06 2012.11.28 137 BL 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 255668369 55845760 SNP49619_19_43657792 1.76e-01 2010.08.20 2010.08.20 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 283205926 55845760 GMI_AK_SNP_7526347 1.76e-01 2010.12.16 2010.12.16 2007.12.06 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 483825920 55845760 HumanOmni2.5-4v1_B_SNP19-43657792-0_T_R_1628422232 1.76e-01 2012.02.03 2012.02.03 2007.12.06 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 483940427 55845760 HumanOmni2.5-4v1_D_kgp7613113-0_T_R_1816320286 1.76e-01 2012.02.03 2012.02.03 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965952T>C;NG_008866.1:g.46613T>C;NM_000540.2:c.4161-6T>C;NM_001042723.1:c.4161-6T>C 491157970 55845760 20110521_exome_665768_chr19_38965952 1.76e-01 2012.02.22 2012.02.22 2007.12.06 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38965955C>A;NC_000019.9:g.38965955C>G;NG_008866.1:g.46616C>A;NG_008866.1:g.46616C>G;NM_000540.2:c.4161-3C>A;NM_000540.2:c.4161-3C>G;NM_001042723.1:c.4161-3C>A;NM_001042723.1:c.4161-3C>G 169117113 111353051 Human1M-Duov3_B_GA034479-0_B_R_1533482124 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38965955C>A;NC_000019.9:g.38965955C>G;NG_008866.1:g.46616C>A;NG_008866.1:g.46616C>G;NM_000540.2:c.4161-3C>A;NM_000540.2:c.4161-3C>G;NM_001042723.1:c.4161-3C>A;NM_001042723.1:c.4161-3C>G 203750882 111353051 BUSHMAN-chr19-43657794 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 ILLUMINA 6261 NC_000019.9:g.38965956A>G;NC_000019.9:g.38965956A>T;NG_008866.1:g.46617A>G;NG_008866.1:g.46617A>T;NM_000540.2:c.4161-2A>G;NM_000540.2:c.4161-2A>T;NM_001042723.1:c.4161-2A>G;NM_001042723.1:c.4161-2A>T 168988763 113050871 Human1M-Duov3_B_GA016291-0_B_R_1533442248 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38965956A>G;NC_000019.9:g.38965956A>T;NG_008866.1:g.46617A>G;NG_008866.1:g.46617A>T;NM_000540.2:c.4161-2A>G;NM_000540.2:c.4161-2A>T;NM_001042723.1:c.4161-2A>G;NM_001042723.1:c.4161-2A>T 203750883 113050871 BUSHMAN-chr19-43657795 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 1000GENOMES 6261 NC_000019.9:g.38965975A>G;NG_008866.1:g.46636A>G;NM_000540.2:c.4178A>G;NM_001042723.1:c.4178A>G;NP_000531.2:p.Lys1393Arg;NP_001036188.1:p.Lys1393Arg 340454481 137933390 20100804_snps_12098022_chr19_38965975 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38965975A>G;NG_008866.1:g.46636A>G;NM_000540.2:c.4178A>G;NM_001042723.1:c.4178A>G;NP_000531.2:p.Lys1393Arg;NP_001036188.1:p.Lys1393Arg 342496460 137933390 ESP2500-chr19-38965975 2.70e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38965975A>G;NG_008866.1:g.46636A>G;NM_000540.2:c.4178A>G;NM_001042723.1:c.4178A>G;NP_000531.2:p.Lys1393Arg;NP_001036188.1:p.Lys1393Arg 491157971 137933390 20110521_exome_665769_chr19_38965975 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38965975A>G;NG_008866.1:g.46636A>G;NM_000540.2:c.4178A>G;NM_001042723.1:c.4178A>G;NP_000531.2:p.Lys1393Arg;NP_001036188.1:p.Lys1393Arg 491546447 137933390 nonsyn_262673_chr_19_38965975 2.70e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38965975A>G;NG_008866.1:g.46636A>G;NM_000540.2:c.4178A>G;NM_001042723.1:c.4178A>G;NP_000531.2:p.Lys1393Arg;NP_001036188.1:p.Lys1393Arg 491766159 137933390 SNV-chr19-43657815 2.70e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38966001C>G;NG_008866.1:g.46662C>G;NM_000540.2:c.4204C>G;NM_001042723.1:c.4204C>G;NP_000531.2:p.Pro1402Ala;NP_001036188.1:p.Pro1402Ala 342496461 141678782 ESP2500-chr19-38966001 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38966014C>T;NG_008866.1:g.46675C>T;NM_000540.2:c.4217C>T;NM_001042723.1:c.4217C>T;NP_000531.2:p.Thr1406Met;NP_001036188.1:p.Thr1406Met 465586721 187496208 20101123_snps_11753951_chr19_38966014 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 6261 NC_000019.9:g.38966033C>G;NG_008866.1:g.46694C>G;NM_000540.2:c.4236C>G;NM_001042723.1:c.4236C>G;NP_000531.2:p.His1412Gln;NP_001036188.1:p.His1412Gln 342496462 146206507 ESP2500-chr19-38966033 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38966034G>A;NG_008866.1:g.46695G>A;NM_000540.2:c.4237G>A;NM_001042723.1:c.4237G>A;NP_000531.2:p.Asp1413Asn;NP_001036188.1:p.Asp1413Asn 342496463 139142846 ESP2500-chr19-38966034 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38966054C>T;NG_008866.1:g.46715C>T;NM_000540.2:c.4257C>T;NM_001042723.1:c.4257C>T;NP_000531.2:p.Asn1419=;NP_001036188.1:p.Asn1419= 48401740 36042816 hCV25953990 2005.11.30 2005.11.30 2006.03.15 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38966054C>T;NG_008866.1:g.46715C>T;NM_000540.2:c.4257C>T;NM_001042723.1:c.4257C>T;NP_000531.2:p.Asn1419=;NP_001036188.1:p.Asn1419= 342496464 36042816 ESP2500-chr19-38966054 2011.03.27 2011.03.27 2006.03.15 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38966056G>A;NG_008866.1:g.46717G>A;NM_000540.2:c.4259G>A;NM_001042723.1:c.4259G>A;NP_000531.2:p.Arg1420His;NP_001036188.1:p.Arg1420His 342496465 150499158 ESP2500-chr19-38966056 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 WICVAR 6261 NC_000019.9:g.38966066C>T;NG_008866.1:g.46727C>T;NM_000540.2:c.4269C>T;NM_001042723.1:c.4269C>T;NP_000531.2:p.Pro1423=;NP_001036188.1:p.Pro1423= 3176130 2229141 WIAF-14805 2001.06.28 2003.10.10 2001.08.15 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38966081C>T;NG_008866.1:g.46742C>T;NM_000540.2:c.4284C>T;NM_001042723.1:c.4284C>T;NP_000531.2:p.Asn1428=;NP_001036188.1:p.Asn1428= 342496466 139622869 ESP2500-chr19-38966081 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38966089C>T;NG_008866.1:g.46750C>T;NM_000540.2:c.4292C>T;NM_001042723.1:c.4292C>T;NP_000531.2:p.Thr1431Met;NP_001036188.1:p.Thr1431Met 465586722 191656849 20101123_snps_11753952_chr19_38966089 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966089C>T;NG_008866.1:g.46750C>T;NM_000540.2:c.4292C>T;NM_001042723.1:c.4292C>T;NP_000531.2:p.Thr1431Met;NP_001036188.1:p.Thr1431Met 491157972 191656849 20110521_exome_665770_chr19_38966089 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38966089C>T;NG_008866.1:g.46750C>T;NM_000540.2:c.4292C>T;NM_001042723.1:c.4292C>T;NP_000531.2:p.Thr1431Met;NP_001036188.1:p.Thr1431Met 491546448 191656849 splice_262674_chr_19_38966089 5.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966123C>A;NG_008866.1:g.46784C>A;NM_000540.2:c.4293+33C>A;NM_001042723.1:c.4293+33C>A 243880938 117967010 pilot_1_CHB+JPT_5766015_chr19_43657963 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966123C>A;NG_008866.1:g.46784C>A;NM_000540.2:c.4293+33C>A;NM_001042723.1:c.4293+33C>A 491157973 117967010 20110521_exome_665771_chr19_38966123 5.00e-04 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38966211T>C;NG_008866.1:g.46872T>C;NM_000540.2:c.4293+121T>C;NM_001042723.1:c.4293+121T>C 84545620 56942001 Cor19129_SNV_20070510.chr19_43658051 4.44e-02 2007.12.07 2007.12.07 2007.12.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38966211T>C;NG_008866.1:g.46872T>C;NM_000540.2:c.4293+121T>C;NM_001042723.1:c.4293+121T>C 203750884 56942001 BUSHMAN-chr19-43658050 4.44e-02 2010.03.09 2010.03.09 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966211T>C;NG_008866.1:g.46872T>C;NM_000540.2:c.4293+121T>C;NM_001042723.1:c.4293+121T>C 211962580 56942001 YRI.trio.3.2010_1440227_chr19_43658051 4.44e-02 2010.03.31 2010.03.31 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966211T>C;NG_008866.1:g.46872T>C;NM_000540.2:c.4293+121T>C;NM_001042723.1:c.4293+121T>C 228135664 56942001 pilot_1_YRI_9945347_chr19_43658051 4.44e-02 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.38966256T>C;NG_008866.1:g.46917T>C;NM_000540.2:c.4293+166T>C;NM_001042723.1:c.4293+166T>C 84789381 60228500 Cor19129_SNV_20070510.chr19_43658096 4.44e-02 2007.12.08 2007.12.08 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38966256T>C;NG_008866.1:g.46917T>C;NM_000540.2:c.4293+166T>C;NM_001042723.1:c.4293+166T>C 203750885 60228500 BUSHMAN-chr19-43658095 4.44e-02 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966256T>C;NG_008866.1:g.46917T>C;NM_000540.2:c.4293+166T>C;NM_001042723.1:c.4293+166T>C 211962582 60228500 YRI.trio.3.2010_1440228_chr19_43658096 4.44e-02 2010.03.31 2010.03.31 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966256T>C;NG_008866.1:g.46917T>C;NM_000540.2:c.4293+166T>C;NM_001042723.1:c.4293+166T>C 228135665 60228500 pilot_1_YRI_9945348_chr19_43658096 4.44e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38966289A>G;NG_008866.1:g.46950A>G;NM_000540.2:c.4293+199A>G;NM_001042723.1:c.4293+199A>G 85429328 59112185 Cor19129_SNV_20070510.chr19_43658129 4.44e-02 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38966289A>G;NG_008866.1:g.46950A>G;NM_000540.2:c.4293+199A>G;NM_001042723.1:c.4293+199A>G 203750886 59112185 BUSHMAN-chr19-43658128 4.44e-02 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966289A>G;NG_008866.1:g.46950A>G;NM_000540.2:c.4293+199A>G;NM_001042723.1:c.4293+199A>G 211962584 59112185 YRI.trio.3.2010_1440229_chr19_43658129 4.44e-02 2010.03.31 2010.03.31 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966289A>G;NG_008866.1:g.46950A>G;NM_000540.2:c.4293+199A>G;NM_001042723.1:c.4293+199A>G 228135666 59112185 pilot_1_YRI_9945349_chr19_43658129 4.44e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966326A>G;NG_008866.1:g.46987A>G;NM_000540.2:c.4293+236A>G;NM_001042723.1:c.4293+236A>G 465586723 184092675 20101123_snps_11753953_chr19_38966326 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38966330A>G;NG_008866.1:g.46991A>G;NM_000540.2:c.4293+240A>G;NM_001042723.1:c.4293+240A>G 228135667 76402039 pilot_1_YRI_9945350_chr19_43658170 2.29e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38966447T>G;NG_008866.1:g.47108T>G;NM_000540.2:c.4293+357T>G;NM_001042723.1:c.4293+357T>G 340454482 142187209 20100804_snps_12098023_chr19_38966447 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38966500C>G;NG_008866.1:g.47161C>G;NM_000540.2:c.4293+410C>G;NM_001042723.1:c.4293+410C>G 340454483 146359707 20100804_snps_12098024_chr19_38966500 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38966513_38966516delAGAC;NG_008866.1:g.47174_47177delAGAC;NM_000540.2:c.4293+423_4293+426delAGAC;NM_001042723.1:c.4293+423_4293+426delAGAC 101326102 72187658 INDEL_GP36_2008a_2788251_0 5.50e-03 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966513_38966516delAGAC;NG_008866.1:g.47174_47177delAGAC;NM_000540.2:c.4293+423_4293+426delAGAC;NM_001042723.1:c.4293+423_4293+426delAGAC 499576274 72187658 20110316_indels_chr19_38966512_38966515 5.50e-03 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 HGSV 6261 NC_000019.9:g.38966515_38966518delACAG;NG_008866.1:g.47176_47179delACAG;NM_000540.2:c.4293+425_4293+428delACAG;NM_001042723.1:c.4293+425_4293+428delACAG 81852315 56905457 Cor19129_DIV_20070510.chr19_43658358-43658363_1 2007.12.01 2007.12.01 2007.12.14 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38966658_38966659insT;NG_008866.1:g.47319_47320insT;NM_000540.2:c.4293+568_4293+569insT;NM_001042723.1:c.4293+568_4293+569insT 193510326 112544964 BUSHMAN-chr19-43658498-43658498 2010.02.16 2010.02.16 2010.07.04 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38966658_38966659insT;NG_008866.1:g.47319_47320insT;NM_000540.2:c.4293+568_4293+569insT;NM_001042723.1:c.4293+568_4293+569insT 328032200 112544964 CEU_chr19_43658498_indel 2011.03.13 2011.04.03 2010.07.04 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38966658_38966659insT;NG_008866.1:g.47319_47320insT;NM_000540.2:c.4293+568_4293+569insT;NM_001042723.1:c.4293+568_4293+569insT 328276228 112544964 YRI_chr19_43658498_indel 2011.03.13 2011.04.04 2010.07.04 2011.10.06 137 HGSV 6261 NC_000019.9:g.38966659_38966660insT;NG_008866.1:g.47320_47321insT;NM_000540.2:c.4293+569_4293+570insT;NM_001042723.1:c.4293+569_4293+570insT 79979346 57005131 Cor18507_DIV_20070510.chr19_43658508-43658509_1 2007.11.24 2007.11.24 2007.12.14 2012.05.11 137 HGSV 6261 NC_000019.9:g.38966659_38966660insT;NG_008866.1:g.47320_47321insT;NM_000540.2:c.4293+569_4293+570insT;NM_001042723.1:c.4293+569_4293+570insT 81852322 57005131 Cor19129_DIV_20070510.chr19_43658508-43658509_1 2007.12.01 2007.12.01 2007.12.14 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38966659_38966660insT;NG_008866.1:g.47320_47321insT;NM_000540.2:c.4293+569_4293+570insT;NM_001042723.1:c.4293+569_4293+570insT 100363679 57005131 INDEL_GP36_2008a_2788252_0 2008.05.16 2008.05.16 2007.12.14 2012.05.11 137 GMI 6261 NC_000019.9:g.38966669C>T;NG_008866.1:g.47330C>T;NM_000540.2:c.4293+579C>T;NM_001042723.1:c.4293+579C>T 283205927 201887926 GMI_AK_SNP_7526348 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 WI_SSAHASNP 6261 NC_000019.9:g.38966731T>C;NG_008866.1:g.47392T>C;NM_000540.2:c.4293+641T>C;NM_001042723.1:c.4293+641T>C 12458283 8104818 chr19.NT_011109.15_11234949 5.22e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38966731T>C;NG_008866.1:g.47392T>C;NM_000540.2:c.4293+641T>C;NM_001042723.1:c.4293+641T>C 85952339 8104818 Cor19129_SNV_20070510.chr19_43658571 5.22e-02 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966731T>C;NG_008866.1:g.47392T>C;NM_000540.2:c.4293+641T>C;NM_001042723.1:c.4293+641T>C 340454484 8104818 20100804_snps_12098025_chr19_38966731 5.22e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38966967T>C;NG_008866.1:g.47628T>C;NM_000540.2:c.4293+877T>C;NM_001042723.1:c.4293+877T>C 465586724 186607021 20101123_snps_11753954_chr19_38966967 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38967162G>A;NG_008866.1:g.47823G>A;NM_000540.2:c.4293+1072G>A;NM_001042723.1:c.4293+1072G>A 340454486 144372592 20100804_snps_12098027_chr19_38967162 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38967163G>A;NG_008866.1:g.47824G>A;NM_000540.2:c.4293+1073G>A;NM_001042723.1:c.4293+1073G>A 465586725 192744654 20101123_snps_11753955_chr19_38967163 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38967383G>C;NG_008866.1:g.48044G>C;NM_000540.2:c.4294-967G>C;NM_001042723.1:c.4294-967G>C 340454488 142249105 20100804_snps_12098029_chr19_38967383 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38967522G>C;NG_008866.1:g.48183G>C;NM_000540.2:c.4294-828G>C;NM_001042723.1:c.4294-828G>C 340454489 147916136 20100804_snps_12098030_chr19_38967522 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38967563C>A;NG_008866.1:g.48224C>A;NM_000540.2:c.4294-787C>A;NM_001042723.1:c.4294-787C>A 465586726 185440171 20101123_snps_11753956_chr19_38967563 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38967669_38967670insC;NG_008866.1:g.48330_48331insC;NM_000540.2:c.4294-681_4294-680insC;NM_001042723.1:c.4294-681_4294-680insC 499576278 200860065 20110316_indels_chr19_38967669_38967670 5.00e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38967670_38967671insA;NG_008866.1:g.48331_48332insA;NM_000540.2:c.4294-680_4294-679insA;NM_001042723.1:c.4294-680_4294-679insA 499576282 202184572 20110316_indels_chr19_38967670_38967671 7.80e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38967694delA;NC_000019.9:g.38967694delAinsAAGG;NG_008866.1:g.48355delA;NG_008866.1:g.48355delAinsAAGG;NM_000540.2:c.4294-656delA;NM_000540.2:c.4294-656delAinsAAGG;NM_001042723.1:c.4294-656delA;NM_001042723.1:c.4294-656delAinsAAGG 193510328 111825868 BUSHMAN-chr19-43659533-43659537 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38967708_38967710delAAG;NG_008866.1:g.48369_48371delAAG;NM_000540.2:c.4294-642_4294-640delAAG;NM_001042723.1:c.4294-642_4294-640delAAG 499576286 200369670 20110316_indels_chr19_38967707_38967709 2.61e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38967718A>G;NG_008866.1:g.48379A>G;NM_000540.2:c.4294-632A>G;NM_001042723.1:c.4294-632A>G 169706864 113316384 NA19240_36_chr19_43659558 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38967886G>A;NG_008866.1:g.48547G>A;NM_000540.2:c.4294-464G>A;NM_001042723.1:c.4294-464G>A 465586727 190652790 20101123_snps_11753957_chr19_38967886 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38967965T>C;NG_008866.1:g.48626T>C;NM_000540.2:c.4294-385T>C;NM_001042723.1:c.4294-385T>C 465586728 192825167 20101123_snps_11753958_chr19_38967965 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38967982C>T;NG_008866.1:g.48643C>T;NM_000540.2:c.4294-368C>T;NM_001042723.1:c.4294-368C>T 340454490 141638236 20100804_snps_12098031_chr19_38967982 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38968030T>G;NG_008866.1:g.48691T>G;NM_000540.2:c.4294-320T>G;NM_001042723.1:c.4294-320T>G 169706879 111835837 NA19240_36_chr19_43659870 5.13e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968030T>G;NG_008866.1:g.48691T>G;NM_000540.2:c.4294-320T>G;NM_001042723.1:c.4294-320T>G 340454491 111835837 20100804_snps_12098032_chr19_38968030 5.13e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968104C>A;NG_008866.1:g.48765C>A;NM_000540.2:c.4294-246C>A;NM_001042723.1:c.4294-246C>A 228135668 115758092 pilot_1_YRI_9945351_chr19_43659944 2.29e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38968104C>A;NG_008866.1:g.48765C>A;NM_000540.2:c.4294-246C>A;NM_001042723.1:c.4294-246C>A 482343994 115758092 HumanOmni2.5-4v1_D_kgp21486318-0_B_R_1844324916 2.29e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38968104C>A;NG_008866.1:g.48765C>A;NM_000540.2:c.4294-246C>A;NM_001042723.1:c.4294-246C>A 483825922 115758092 HumanOmni2.5-4v1_B_SNP19-43659944-0_B_R_1637760524 2.29e-02 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968197C>G;NG_008866.1:g.48858C>G;NM_000540.2:c.4294-153C>G;NM_001042723.1:c.4294-153C>G 340454492 147609895 20100804_snps_12098033_chr19_38968197 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38968225G>T;NG_008866.1:g.48886G>T;NM_000540.2:c.4294-125G>T;NM_001042723.1:c.4294-125G>T 168183007 77702866 NA07022_36_chr19_43660065 3.66e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968225G>T;NG_008866.1:g.48886G>T;NM_000540.2:c.4294-125G>T;NM_001042723.1:c.4294-125G>T 237674137 77702866 pilot_1_CEU_7278766_chr19_43660065 3.66e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968225G>T;NG_008866.1:g.48886G>T;NM_000540.2:c.4294-125G>T;NM_001042723.1:c.4294-125G>T 243880940 77702866 pilot_1_CHB+JPT_5766017_chr19_43660065 3.66e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38968296G>A;NG_008866.1:g.48957G>A;NM_000540.2:c.4294-54G>A;NM_001042723.1:c.4294-54G>A 491766160 201208061 SNV-chr19-43660136 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968313C>T;NG_008866.1:g.48974C>T;NM_000540.2:c.4294-37C>T;NM_001042723.1:c.4294-37C>T 489164426 201296451 20110521_exome_255606_chr19_38968313 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38968361C>T;NG_008866.1:g.49022C>T;NM_000540.2:c.4305C>T;NM_001042723.1:c.4305C>T;NP_000531.2:p.Ser1435=;NP_001036188.1:p.Ser1435= 283205928 199864631 GMI_AK_SNP_7526349 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 EXOME_CHIP 6261 NC_000019.9:g.38968362G>A;NG_008866.1:g.49023G>A;NM_000540.2:c.4306G>A;NM_001042723.1:c.4306G>A;NP_000531.2:p.Val1436Met;NP_001036188.1:p.Val1436Met 491546449 200289457 nonsyn_262675_chr_19_38968362 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 BUSHMAN 6261 NC_000019.9:g.38968367G>A;NG_008866.1:g.49028G>A;NM_000540.2:c.4311G>A;NM_001042723.1:c.4311G>A;NP_000531.2:p.Arg1437=;NP_001036188.1:p.Arg1437= 203750887 113831421 BUSHMAN-chr19-43660206 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38968417C>T;NG_008866.1:g.49078C>T;NM_000540.2:c.4361C>T;NM_001042723.1:c.4361C>T;NP_000531.2:p.Pro1454Leu;NP_001036188.1:p.Pro1454Leu 342496467 149737658 ESP2500-chr19-38968417 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38968456A>G;NG_008866.1:g.49117A>G;NM_000540.2:c.4400A>G;NM_001042723.1:c.4400A>G;NP_000531.2:p.Lys1467Arg;NP_001036188.1:p.Lys1467Arg 342496468 145573319 ESP2500-chr19-38968456 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38968461C>T;NG_008866.1:g.49122C>T;NM_000540.2:c.4405C>T;NM_001042723.1:c.4405C>T;NP_000531.2:p.Arg1469Trp;NP_001036188.1:p.Arg1469Trp 489164428 200546266 20110521_exome_255607_chr19_38968461 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38968461C>T;NG_008866.1:g.49122C>T;NM_000540.2:c.4405C>T;NM_001042723.1:c.4405C>T;NP_000531.2:p.Arg1469Trp;NP_001036188.1:p.Arg1469Trp 491546450 200546266 nonsyn_262676_chr_19_38968461 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38968499C>T;NG_008866.1:g.49160C>T;NM_000540.2:c.4443C>T;NM_001042723.1:c.4443C>T;NP_000531.2:p.Asn1481=;NP_001036188.1:p.Asn1481= 342496469 141317474 ESP2500-chr19-38968499 1.80e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968499C>T;NG_008866.1:g.49160C>T;NM_000540.2:c.4443C>T;NM_001042723.1:c.4443C>T;NP_000531.2:p.Asn1481=;NP_001036188.1:p.Asn1481= 489164431 141317474 20110521_exome_255608_chr19_38968499 1.80e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38968537G>T;NG_008866.1:g.49198G>T;NM_000540.2:c.4454+27G>T;NM_001042723.1:c.4454+27G>T 203750888 111563972 BUSHMAN-chr19-43660376 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 10941218 7258503 chr19.NT_011109.15_11236757 3.98e-02 unknown untested 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 203750889 7258503 BUSHMAN-chr19-43660378 3.98e-02 unknown untested 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 211962586 7258503 YRI.trio.3.2010_1440230_chr19_43660379 3.98e-02 unknown untested 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 228135669 7258503 pilot_1_YRI_9945352_chr19_43660379 3.98e-02 unknown untested 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4454+29G>A NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 475871503 7258503 RYR1_00348 3.98e-02 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968539G>A;NG_008866.1:g.49200G>A;NM_000540.2:c.4454+29G>A;NM_001042723.1:c.4454+29G>A 491157974 7258503 20110521_exome_665772_chr19_38968539 3.98e-02 germline untested 2012.02.22 2012.02.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968559G>C;NG_008866.1:g.49220G>C;NM_000540.2:c.4454+49G>C;NM_001042723.1:c.4454+49G>C 115120249 73540995 NA19240_2008_12_16_3257572_chr19_43660399 3.20e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38968559G>C;NG_008866.1:g.49220G>C;NM_000540.2:c.4454+49G>C;NM_001042723.1:c.4454+49G>C 169706894 73540995 NA19240_36_chr19_43660399 3.20e-03 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968559G>C;NG_008866.1:g.49220G>C;NM_000540.2:c.4454+49G>C;NM_001042723.1:c.4454+49G>C 465586729 73540995 20101123_snps_11753959_chr19_38968559 3.20e-03 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968559G>C;NG_008866.1:g.49220G>C;NM_000540.2:c.4454+49G>C;NM_001042723.1:c.4454+49G>C 491157975 73540995 20110521_exome_665773_chr19_38968559 3.20e-03 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 10942752 7259341 chr19.NT_011109.15_11236834 3.98e-02 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 23643805 7259341 afd4649247 3.98e-02 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 75187714 7259341 ILMN_Human_1M_rs7259341 3.98e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 119549715 7259341 KHS1711962 3.98e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 174313711 7259341 Human1M-Duov3_B_rs7259341-128_B_F_1514151383 3.98e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 211962588 7259341 YRI.trio.3.2010_1440231_chr19_43660456 3.98e-02 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968616T>C;NG_008866.1:g.49277T>C;NM_000540.2:c.4454+106T>C;NM_001042723.1:c.4454+106T>C 228135670 7259341 pilot_1_YRI_9945353_chr19_43660456 3.98e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968625C>T;NG_008866.1:g.49286C>T;NM_000540.2:c.4454+115C>T;NM_001042723.1:c.4454+115C>T 465586730 189260283 20101123_snps_11753960_chr19_38968625 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38968741_38968742insC;NG_008866.1:g.49402_49403insC;NM_000540.2:c.4454+231_4454+232insC;NM_001042723.1:c.4454+231_4454+232insC 328276229 151105558 YRI_chr19_43660582_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968741_38968742insC;NG_008866.1:g.49402_49403insC;NM_000540.2:c.4454+231_4454+232insC;NM_001042723.1:c.4454+231_4454+232insC 499576290 151105558 20110316_indels_chr19_38968742_38968743 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38968743_38968744insC;NG_008866.1:g.49404_49405insC;NM_000540.2:c.4454+233_4454+234insC;NM_001042723.1:c.4454+233_4454+234insC 15349390 11460009 INDEL_GP34_WGS_500496 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38968743_38968744insC;NG_008866.1:g.49404_49405insC;NM_000540.2:c.4454+233_4454+234insC;NM_001042723.1:c.4454+233_4454+234insC 289387898 11460009 GMI_AK_INDEL_1065355 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968775T>C;NG_008866.1:g.49436T>C;NM_000540.2:c.4454+265T>C;NM_001042723.1:c.4454+265T>C 228135671 80306848 pilot_1_YRI_9945354_chr19_43660615 6.09e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38968775T>C;NG_008866.1:g.49436T>C;NM_000540.2:c.4454+265T>C;NM_001042723.1:c.4454+265T>C 237674138 80306848 pilot_1_CEU_7278767_chr19_43660615 6.09e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 6261 NC_000019.9:g.38968775T>C;NG_008866.1:g.49436T>C;NM_000540.2:c.4454+265T>C;NM_001042723.1:c.4454+265T>C 255668372 80306848 SNP49620_19_43660615 6.09e-02 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38968840C>T;NG_008866.1:g.49501C>T;NM_000540.2:c.4455-235C>T;NM_001042723.1:c.4455-235C>T 340454493 140815665 20100804_snps_12098034_chr19_38968840 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38968851A>T;NG_008866.1:g.49512A>T;NM_000540.2:c.4455-224A>T;NM_001042723.1:c.4455-224A>T 465586731 181194425 20101123_snps_11753961_chr19_38968851 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38968921C>T;NG_008866.1:g.49582C>T;NM_000540.2:c.4455-154C>T;NM_001042723.1:c.4455-154C>T 228135672 116133611 pilot_1_YRI_9945355_chr19_43660761 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 76892288 56271299 NT_011109.15_11237158 1.93e-01 2007.09.20 2007.09.20 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 111365446 56271299 CEU.trio.12.15.2008_3616617_chr19_43660780 1.93e-01 2008.12.17 2008.12.17 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 115120258 56271299 NA19240_2008_12_16_3257573_chr19_43660780 1.93e-01 2008.12.19 2008.12.19 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 117702524 56271299 NA18507_000043855_NCBI36.1_chr19_43660780 1.93e-01 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 155887643 56271299 GMI_SNP_135435993 1.93e-01 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 169706907 56271299 NA19240_36_chr19_43660780 1.93e-01 2009.10.01 2009.10.01 2007.12.07 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 203750890 56271299 BUSHMAN-chr19-43660779 1.93e-01 2010.03.09 2010.03.09 2007.12.07 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 208512733 56271299 BCM_CMT_1011-3128791 1.93e-01 2010.03.19 2010.03.19 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 228135673 56271299 pilot_1_YRI_9945356_chr19_43660780 1.93e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 237674139 56271299 pilot_1_CEU_7278768_chr19_43660780 1.93e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 255668377 56271299 SNP49621_19_43660780 1.93e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38968940T>G;NG_008866.1:g.49601T>G;NM_000540.2:c.4455-135T>G;NM_001042723.1:c.4455-135T>G 283205929 56271299 GMI_AK_SNP_7526350 1.93e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38969086G>A;NG_008866.1:g.49747G>A;NM_000540.2:c.4466G>A;NM_001042723.1:c.4466G>A;NP_000531.2:p.Ser1489Asn;NP_001036188.1:p.Ser1489Asn 48401741 34404839 hCV25953946 2005.11.30 2006.11.03 2006.03.14 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.38969086G>A;NG_008866.1:g.49747G>A;NM_000540.2:c.4466G>A;NM_001042723.1:c.4466G>A;NP_000531.2:p.Ser1489Asn;NP_001036188.1:p.Ser1489Asn 69228164 34404839 PGP17791805 2007.01.30 2008.03.31 2006.03.14 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38969127G>A;NG_008866.1:g.49788G>A;NM_000540.2:c.4507G>A;NM_001042723.1:c.4507G>A;NP_000531.2:p.Gly1503Arg;NP_001036188.1:p.Gly1503Arg 342496470 144747878 ESP2500-chr19-38969127 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38969153G>A;NG_008866.1:g.49814G>A;NM_000540.2:c.4533G>A;NM_001042723.1:c.4533G>A;NP_000531.2:p.Thr1511=;NP_001036188.1:p.Thr1511= 342496471 147901772 ESP2500-chr19-38969153 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38969177G>A;NG_008866.1:g.49838G>A;NM_000540.2:c.4557G>A;NM_001042723.1:c.4557G>A;NP_000531.2:p.Val1519=;NP_001036188.1:p.Val1519= 489164433 199988678 20110521_exome_255609_chr19_38969177 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38969253C>T;NG_008866.1:g.49914C>T;NM_000540.2:c.4620+13C>T;NM_001042723.1:c.4620+13C>T 491766161 201971363 SNV-chr19-43661093 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969271G>T;NG_008866.1:g.49932G>T;NM_000540.2:c.4620+31G>T;NM_001042723.1:c.4620+31G>T 465586732 185846307 20101123_snps_11753962_chr19_38969271 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969271G>T;NG_008866.1:g.49932G>T;NM_000540.2:c.4620+31G>T;NM_001042723.1:c.4620+31G>T 491157976 185846307 20110521_exome_665774_chr19_38969271 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969293G>A;NG_008866.1:g.49954G>A;NM_000540.2:c.4620+53G>A;NM_001042723.1:c.4620+53G>A 228135674 115315524 pilot_1_YRI_9945357_chr19_43661133 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38969295C>T;NG_008866.1:g.49956C>T;NM_000540.2:c.4620+55C>T;NM_001042723.1:c.4620+55C>T 465586733 189042657 20101123_snps_11753963_chr19_38969295 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 85867787 57257936 Cor19129_SNV_20070510.chr19_43661336 1.77e-01 2007.12.10 2007.12.10 2007.12.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 155887651 57257936 GMI_SNP_74130694 1.77e-01 2009.06.24 2009.06.24 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 169706924 57257936 NA19240_36_chr19_43661336 1.77e-01 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 203750891 57257936 BUSHMAN-chr19-43661335 1.77e-01 2010.03.09 2010.03.09 2007.12.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 208496998 57257936 BCM_CMT_1011-3123245 1.77e-01 2010.03.19 2010.03.19 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 228135675 57257936 pilot_1_YRI_9945358_chr19_43661336 1.77e-01 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 237674140 57257936 pilot_1_CEU_7278769_chr19_43661336 1.77e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 BL 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 255668381 57257936 SNP49622_19_43661336 1.77e-01 2010.08.20 2010.08.20 2007.12.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38969496C>T;NG_008866.1:g.50157C>T;NM_000540.2:c.4620+256C>T;NM_001042723.1:c.4620+256C>T 283205930 57257936 GMI_AK_SNP_7526351 1.77e-01 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969563A>G;NG_008866.1:g.50224A>G;NM_000540.2:c.4620+323A>G;NM_001042723.1:c.4620+323A>G 340454494 150168718 20100804_snps_12098035_chr19_38969563 1.65e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38969592G>C;NG_008866.1:g.50253G>C;NM_000540.2:c.4620+352G>C;NM_001042723.1:c.4620+352G>C 14696069 10405016 chr19.NT_011109.15_11237810 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38969687delC;NG_008866.1:g.50348delC;NM_000540.2:c.4620+447delC;NM_001042723.1:c.4620+447delC 193510330 113371767 BUSHMAN-chr19-43661526-43661527 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38969757G>A;NG_008866.1:g.50418G>A;NM_000540.2:c.4620+517G>A;NM_001042723.1:c.4620+517G>A 203750892 112290776 BUSHMAN-chr19-43661596 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38969796C>T;NG_008866.1:g.50457C>T;NM_000540.2:c.4620+556C>T;NM_001042723.1:c.4620+556C>T 465586734 180996626 20101123_snps_11753964_chr19_38969796 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38969820G>T;NG_008866.1:g.50481G>T;NM_000540.2:c.4620+580G>T;NM_001042723.1:c.4620+580G>T 465586735 187006573 20101123_snps_11753965_chr19_38969820 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38969857T>C;NG_008866.1:g.50518T>C;NM_000540.2:c.4620+617T>C;NM_001042723.1:c.4620+617T>C 465586736 192244649 20101123_snps_11753966_chr19_38969857 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38969868C>T;NG_008866.1:g.50529C>T;NM_000540.2:c.4620+628C>T;NM_001042723.1:c.4620+628C>T 465586737 183435389 20101123_snps_11753967_chr19_38969868 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38969932G>A;NG_008866.1:g.50593G>A;NM_000540.2:c.4620+692G>A;NM_001042723.1:c.4620+692G>A 203750893 113108796 BUSHMAN-chr19-43661771 1.05e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969932G>A;NG_008866.1:g.50593G>A;NM_000540.2:c.4620+692G>A;NM_001042723.1:c.4620+692G>A 211962590 113108796 YRI.trio.3.2010_1440232_chr19_43661772 1.05e-02 2010.03.31 2010.03.31 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38969932G>A;NG_008866.1:g.50593G>A;NM_000540.2:c.4620+692G>A;NM_001042723.1:c.4620+692G>A 228135676 113108796 pilot_1_YRI_9945359_chr19_43661772 1.05e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38970031T>A;NG_008866.1:g.50692T>A;NM_000540.2:c.4620+791T>A;NM_001042723.1:c.4620+791T>A 203750894 113530382 BUSHMAN-chr19-43661870 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38970160G>A;NG_008866.1:g.50821G>A;NM_000540.2:c.4620+920G>A;NM_001042723.1:c.4620+920G>A 465586738 185769688 20101123_snps_11753968_chr19_38970160 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 10928613 6508803 chr19.NT_011109.15_11238493 1.31e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 12459387 6508803 chr19.NT_011109.15_11238493 1.31e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 111365463 6508803 CEU.trio.12.15.2008_3616619_chr19_43662115 1.31e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 115120271 6508803 NA19240_2008_12_16_3257574_chr19_43662115 1.31e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 117702526 6508803 NA18507_000043856_NCBI36.1_chr19_43662115 1.31e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 155887657 6508803 GMI_SNP_74165304 1.31e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 169706936 6508803 NA19240_36_chr19_43662115 1.31e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 203750895 6508803 BUSHMAN-chr19-43662114 1.31e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 228135677 6508803 pilot_1_YRI_9945360_chr19_43662115 1.31e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38970275G>A;NG_008866.1:g.50936G>A;NM_000540.2:c.4620+1035G>A;NM_001042723.1:c.4620+1035G>A 283205931 6508803 GMI_AK_SNP_7526352 1.31e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970440C>T;NG_008866.1:g.51101C>T;NM_000540.2:c.4620+1200C>T;NM_001042723.1:c.4620+1200C>T 465586739 190630426 20101123_snps_11753969_chr19_38970440 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38970452A>G;NG_008866.1:g.51113A>G;NM_000540.2:c.4620+1212A>G;NM_001042723.1:c.4620+1212A>G 340454496 148836019 20100804_snps_12098037_chr19_38970452 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38970459C>A;NG_008866.1:g.51120C>A;NM_000540.2:c.4620+1219C>A;NM_001042723.1:c.4620+1219C>A 465586740 182412785 20101123_snps_11753970_chr19_38970459 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38970503C>G;NG_008866.1:g.51164C>G;NM_000540.2:c.4620+1263C>G;NM_001042723.1:c.4620+1263C>G 340454497 143440088 20100804_snps_12098038_chr19_38970503 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 10930499 6508804 chr19.NT_011109.15_11238731 1.93e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 12461211 6508804 chr19.NT_011109.15_11238731 1.93e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 78956405 6508804 Cor18507_SNV_20070510.chr19_43662353 1.93e-01 2007.10.21 2007.10.21 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 117702528 6508804 NA18507_000043857_NCBI36.1_chr19_43662353 1.93e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 155887665 6508804 GMI_SNP_103719286 1.93e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 169706953 6508804 NA19240_36_chr19_43662353 1.93e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 203750896 6508804 BUSHMAN-chr19-43662352 1.93e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 228135678 6508804 pilot_1_YRI_9945361_chr19_43662353 1.93e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 237674141 6508804 pilot_1_CEU_7278770_chr19_43662353 1.93e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 243880941 6508804 pilot_1_CHB+JPT_5766018_chr19_43662353 1.93e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 255668387 6508804 SNP49623_19_43662353 1.93e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38970513T>G;NG_008866.1:g.51174T>G;NM_000540.2:c.4620+1273T>G;NM_001042723.1:c.4620+1273T>G 283205932 6508804 GMI_AK_SNP_7526353 1.93e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38970767A>G;NG_008866.1:g.51428A>G;NM_000540.2:c.4620+1527A>G;NM_001042723.1:c.4620+1527A>G 237674142 117905889 pilot_1_CEU_7278771_chr19_43662607 3.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38970969A>T;NG_008866.1:g.51630A>T;NM_000540.2:c.4620+1729A>T;NM_001042723.1:c.4620+1729A>T 340454499 142433807 20100804_snps_12098040_chr19_38970969 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38971108C>T;NG_008866.1:g.51769C>T;NM_000540.2:c.4620+1868C>T;NM_001042723.1:c.4620+1868C>T 465586741 188343083 20101123_snps_11753971_chr19_38971108 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971236_38971237insA;NG_008866.1:g.51897_51898insA;NM_000540.2:c.4620+1996_4620+1997insA;NM_001042723.1:c.4620+1996_4620+1997insA 328276230 141105911 YRI_chr19_43663080_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 111365478 66707127 CEU.trio.12.15.2008_3616621_chr19_43663114 5.40e-02 2008.12.17 2008.12.17 2009.02.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 115120286 66707127 NA19240_2008_12_16_3257576_chr19_43663114 5.40e-02 2008.12.19 2008.12.19 2009.02.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 169706968 66707127 NA19240_36_chr19_43663114 5.40e-02 2009.10.01 2009.10.01 2009.02.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 203750897 66707127 BUSHMAN-chr19-43663113 5.40e-02 2010.03.09 2010.03.09 2009.02.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 208379845 66707127 BCM_CMT_1011-3084217 5.40e-02 2010.03.19 2010.03.19 2009.02.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 228135679 66707127 pilot_1_YRI_9945362_chr19_43663114 5.40e-02 2010.04.22 2010.04.22 2009.02.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971274T>C;NG_008866.1:g.51935T>C;NM_000540.2:c.4620+2034T>C;NM_001042723.1:c.4620+2034T>C 237674143 66707127 pilot_1_CEU_7278772_chr19_43663114 5.40e-02 2010.05.01 2010.05.01 2009.02.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971327T>G;NG_008866.1:g.51988T>G;NM_000540.2:c.4620+2087T>G;NM_001042723.1:c.4620+2087T>G 340454500 144645143 20100804_snps_12098041_chr19_38971327 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38971478G>T;NG_008866.1:g.52139G>T;NM_000540.2:c.4621-2189G>T;NM_001042723.1:c.4621-2189G>T 465586742 192142488 20101123_snps_11753972_chr19_38971478 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971479G>T;NG_008866.1:g.52140G>T;NM_000540.2:c.4621-2188G>T;NM_001042723.1:c.4621-2188G>T 465586743 182891008 20101123_snps_11753973_chr19_38971479 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971516C>T;NG_008866.1:g.52177C>T;NM_000540.2:c.4621-2151C>T;NM_001042723.1:c.4621-2151C>T 465586744 187746753 20101123_snps_11753974_chr19_38971516 1.37e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971517G>A;NG_008866.1:g.52178G>A;NM_000540.2:c.4621-2150G>A;NM_001042723.1:c.4621-2150G>A 340454501 138429006 20100804_snps_12098042_chr19_38971517 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38971556C>T;NG_008866.1:g.52217C>T;NM_000540.2:c.4621-2111C>T;NM_001042723.1:c.4621-2111C>T 85738257 58273547 Cor19129_SNV_20070510.chr19_43663396 5.36e-02 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971556C>T;NG_008866.1:g.52217C>T;NM_000540.2:c.4621-2111C>T;NM_001042723.1:c.4621-2111C>T 115120290 58273547 NA19240_2008_12_16_3257577_chr19_43663396 5.36e-02 2008.12.19 2008.12.19 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38971556C>T;NG_008866.1:g.52217C>T;NM_000540.2:c.4621-2111C>T;NM_001042723.1:c.4621-2111C>T 169706992 58273547 NA19240_36_chr19_43663396 5.36e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971556C>T;NG_008866.1:g.52217C>T;NM_000540.2:c.4621-2111C>T;NM_001042723.1:c.4621-2111C>T 340454502 58273547 20100804_snps_12098043_chr19_38971556 5.36e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38971792G>A;NG_008866.1:g.52453G>A;NM_000540.2:c.4621-1875G>A;NM_001042723.1:c.4621-1875G>A 465586745 192509210 20101123_snps_11753975_chr19_38971792 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971793G>T;NG_008866.1:g.52454G>T;NM_000540.2:c.4621-1874G>T;NM_001042723.1:c.4621-1874G>T 465586746 185025995 20101123_snps_11753976_chr19_38971793 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38971811G>A;NG_008866.1:g.52472G>A;NM_000540.2:c.4621-1856G>A;NM_001042723.1:c.4621-1856G>A 228135680 115819409 pilot_1_YRI_9945363_chr19_43663651 2.20e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38971854C>A;NG_008866.1:g.52515C>A;NM_000540.2:c.4621-1813C>A;NM_001042723.1:c.4621-1813C>A 237674144 118185414 pilot_1_CEU_7278773_chr19_43663694 8.24e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BL 6261 NC_000019.9:g.38971854C>A;NG_008866.1:g.52515C>A;NM_000540.2:c.4621-1813C>A;NM_001042723.1:c.4621-1813C>A 255668392 118185414 SNP49624_19_43663694 8.24e-02 2010.08.20 2010.08.20 2010.07.15 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38971914G>A;NG_008866.1:g.52575G>A;NM_000540.2:c.4621-1753G>A;NM_001042723.1:c.4621-1753G>A 203750898 112716672 BUSHMAN-chr19-43663753 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38971987G>A;NG_008866.1:g.52648G>A;NM_000540.2:c.4621-1680G>A;NM_001042723.1:c.4621-1680G>A 465586747 189020457 20101123_snps_11753977_chr19_38971987 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38972049G>A;NG_008866.1:g.52710G>A;NM_000540.2:c.4621-1618G>A;NM_001042723.1:c.4621-1618G>A 465586748 192233978 20101123_snps_11753978_chr19_38972049 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 115120299 73541002 NA19240_2008_12_16_3257578_chr19_43664058 1.79e-01 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 117702530 73541002 NA18507_000043858_NCBI36.1_chr19_43664058 1.79e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 155887672 73541002 GMI_SNP_104192498 1.79e-01 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 169707011 73541002 NA19240_36_chr19_43664058 1.79e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 203750899 73541002 BUSHMAN-chr19-43664057 1.79e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 208448209 73541002 BCM_CMT_1011-3106862 1.79e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 210946289 73541002 CEU.trio.3.2010_162536_chr19_43664058 1.79e-01 2010.03.29 2010.03.29 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 228135681 73541002 pilot_1_YRI_9945364_chr19_43664058 1.79e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 237674145 73541002 pilot_1_CEU_7278774_chr19_43664058 1.79e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 243880942 73541002 pilot_1_CHB+JPT_5766019_chr19_43664058 1.79e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 255668397 73541002 SNP49625_19_43664058 1.79e-01 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38972218G>A;NG_008866.1:g.52879G>A;NM_000540.2:c.4621-1449G>A;NM_001042723.1:c.4621-1449G>A 283205933 73541002 GMI_AK_SNP_7526354 1.79e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972230C>T;NG_008866.1:g.52891C>T;NM_000540.2:c.4621-1437C>T;NM_001042723.1:c.4621-1437C>T 340454503 150694135 20100804_snps_12098044_chr19_38972230 1.56e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 115120307 73542803 NA19240_2008_12_16_3257579_chr19_43664076 1.47e-01 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 169707025 73542803 NA19240_36_chr19_43664076 1.47e-01 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 210946292 73542803 CEU.trio.3.2010_162537_chr19_43664076 1.47e-01 2010.03.29 2010.03.29 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 228135682 73542803 pilot_1_YRI_9945365_chr19_43664076 1.47e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 237674146 73542803 pilot_1_CEU_7278775_chr19_43664076 1.47e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 BL 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 255668402 73542803 SNP49626_19_43664076 1.47e-01 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 482404564 73542803 HumanOmni2.5-4v1_D_kgp2179594-0_B_R_1816463826 1.47e-01 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38972236G>A;NG_008866.1:g.52897G>A;NM_000540.2:c.4621-1431G>A;NM_001042723.1:c.4621-1431G>A 483825924 73542803 HumanOmni2.5-4v1_B_SNP19-43664076-0_B_R_1628385577 1.47e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.38972325C>T;NG_008866.1:g.52986C>T;NM_000540.2:c.4621-1342C>T;NM_001042723.1:c.4621-1342C>T 77426708 56363218 Cor12156_SNV_20070510.chr19_43664165 6.00e-02 2007.10.12 2007.10.12 2007.12.07 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38972325C>T;NG_008866.1:g.52986C>T;NM_000540.2:c.4621-1342C>T;NM_001042723.1:c.4621-1342C>T 228135683 56363218 pilot_1_YRI_9945366_chr19_43664165 6.00e-02 2010.04.22 2010.04.22 2007.12.07 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38972325C>T;NG_008866.1:g.52986C>T;NM_000540.2:c.4621-1342C>T;NM_001042723.1:c.4621-1342C>T 237674147 56363218 pilot_1_CEU_7278776_chr19_43664165 6.00e-02 2010.05.01 2010.05.01 2007.12.07 2011.09.09 137 BL 6261 NC_000019.9:g.38972325C>T;NG_008866.1:g.52986C>T;NM_000540.2:c.4621-1342C>T;NM_001042723.1:c.4621-1342C>T 255668407 56363218 SNP49627_19_43664165 6.00e-02 2010.08.20 2010.08.20 2007.12.07 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38972392C>T;NG_008866.1:g.53053C>T;NM_000540.2:c.4621-1275C>T;NM_001042723.1:c.4621-1275C>T 203750900 112297994 BUSHMAN-chr19-43664231 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38972436A>C;NG_008866.1:g.53097A>C;NM_000540.2:c.4621-1231A>C;NM_001042723.1:c.4621-1231A>C 340454504 139984614 20100804_snps_12098045_chr19_38972436 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38972447G>T;NG_008866.1:g.53108G>T;NM_000540.2:c.4621-1220G>T;NM_001042723.1:c.4621-1220G>T 41023055 35880389 hCV32823855 4.49e-02 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972447G>T;NG_008866.1:g.53108G>T;NM_000540.2:c.4621-1220G>T;NM_001042723.1:c.4621-1220G>T 340454505 35880389 20100804_snps_12098046_chr19_38972447 4.49e-02 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972449C>T;NG_008866.1:g.53110C>T;NM_000540.2:c.4621-1218C>T;NM_001042723.1:c.4621-1218C>T 340454506 147453663 20100804_snps_12098047_chr19_38972449 2.20e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 77826416 55854019 Cor12156_SNV_20070510.chr19_43664337 1.91e-01 2007.10.14 2007.10.14 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 155887679 55854019 GMI_SNP_74109590 1.91e-01 2009.06.24 2009.06.24 2007.12.06 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 169707040 55854019 NA19240_36_chr19_43664337 1.91e-01 2009.10.01 2009.10.01 2007.12.06 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 203750901 55854019 BUSHMAN-chr19-43664336 1.91e-01 2010.03.09 2010.03.09 2007.12.06 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 208555044 55854019 BCM_CMT_1011-3143004 1.91e-01 2010.03.19 2010.03.19 2007.12.06 2012.11.28 137 BL 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 255668411 55854019 SNP49628_19_43664337 1.91e-01 2010.08.20 2010.08.20 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 283205934 55854019 GMI_AK_SNP_7526355 1.91e-01 2010.12.16 2010.12.16 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972497T>G;NG_008866.1:g.53158T>G;NM_000540.2:c.4621-1170T>G;NM_001042723.1:c.4621-1170T>G 340454507 55854019 20100804_snps_12098048_chr19_38972497 1.91e-01 2011.03.22 2011.03.22 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.38972586G>A;NG_008866.1:g.53247G>A;NM_000540.2:c.4621-1081G>A;NM_001042723.1:c.4621-1081G>A 155887686 75238787 GMI_SNP_74228238 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38972586G>A;NG_008866.1:g.53247G>A;NM_000540.2:c.4621-1081G>A;NM_001042723.1:c.4621-1081G>A 283205935 75238787 GMI_AK_SNP_7526356 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38972586G>A;NG_008866.1:g.53247G>A;NM_000540.2:c.4621-1081G>A;NM_001042723.1:c.4621-1081G>A 340454508 75238787 20100804_snps_12098049_chr19_38972586 1.05e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38972632A>G;NG_008866.1:g.53293A>G;NM_000540.2:c.4621-1035A>G;NM_001042723.1:c.4621-1035A>G 203750902 111316832 BUSHMAN-chr19-43664471 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38972642C>T;NG_008866.1:g.53303C>T;NM_000540.2:c.4621-1025C>T;NM_001042723.1:c.4621-1025C>T 465586749 184059478 20101123_snps_11753979_chr19_38972642 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38973006G>A;NG_008866.1:g.53667G>A;NM_000540.2:c.4621-661G>A;NM_001042723.1:c.4621-661G>A 465586750 189866161 20101123_snps_11753980_chr19_38973006 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38973066G>A;NG_008866.1:g.53727G>A;NM_000540.2:c.4621-601G>A;NM_001042723.1:c.4621-601G>A 340454509 147682292 20100804_snps_12098050_chr19_38973066 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38973074A>G;NG_008866.1:g.53735A>G;NM_000540.2:c.4621-593A>G;NM_001042723.1:c.4621-593A>G 465586751 181427493 20101123_snps_11753981_chr19_38973074 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38973102T>C;NG_008866.1:g.53763T>C;NM_000540.2:c.4621-565T>C;NM_001042723.1:c.4621-565T>C 465586752 186064099 20101123_snps_11753982_chr19_38973102 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 6261 NC_000019.9:g.38973103T>G;NG_008866.1:g.53764T>G;NM_000540.2:c.4621-564T>G;NM_001042723.1:c.4621-564T>G 137670318 77442292 ENSSNP11444311 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38973155A>G;NG_008866.1:g.53816A>G;NM_000540.2:c.4621-512A>G;NM_001042723.1:c.4621-512A>G 340454510 148664513 20100804_snps_12098051_chr19_38973155 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 78597300 56081639 Cor18507_SNV_20070510.chr19_43665083 1.26e-01 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 117702532 56081639 NA18507_000043859_NCBI36.1_chr19_43665083 1.26e-01 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 155887693 56081639 GMI_SNP_135375380 1.26e-01 2009.06.24 2009.06.24 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 228135684 56081639 pilot_1_YRI_9945367_chr19_43665083 1.26e-01 2010.04.22 2010.04.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 237674148 56081639 pilot_1_CEU_7278777_chr19_43665083 1.26e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 243880943 56081639 pilot_1_CHB+JPT_5766020_chr19_43665083 1.26e-01 2010.05.01 2010.05.01 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 255668417 56081639 SNP49629_19_43665083 1.26e-01 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.38973243G>A;NG_008866.1:g.53904G>A;NM_000540.2:c.4621-424G>A;NM_001042723.1:c.4621-424G>A 283205936 56081639 GMI_AK_SNP_7526357 1.26e-01 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38973323C>T;NG_008866.1:g.53984C>T;NM_000540.2:c.4621-344C>T;NM_001042723.1:c.4621-344C>T 4096167 2901777 TSC1787905 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.38973334C>T;NG_008866.1:g.53995C>T;NM_000540.2:c.4621-333C>T;NM_001042723.1:c.4621-333C>T 4049434 2860822 TSC1687574 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38973379C>T;NG_008866.1:g.54040C>T;NM_000540.2:c.4621-288C>T;NM_001042723.1:c.4621-288C>T 228135685 78991837 pilot_1_YRI_9945368_chr19_43665219 2.20e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38973435C>T;NG_008866.1:g.54096C>T;NM_000540.2:c.4621-232C>T;NM_001042723.1:c.4621-232C>T 465586753 189274149 20101123_snps_11753983_chr19_38973435 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38973487T>C;NG_008866.1:g.54148T>C;NM_000540.2:c.4621-180T>C;NM_001042723.1:c.4621-180T>C 203750903 113612329 BUSHMAN-chr19-43665326 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38973563C>T;NG_008866.1:g.54224C>T;NM_000540.2:c.4621-104C>T;NM_001042723.1:c.4621-104C>T 340454511 142163642 20100804_snps_12098052_chr19_38973563 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38973589C>T;NG_008866.1:g.54250C>T;NM_000540.2:c.4621-78C>T;NM_001042723.1:c.4621-78C>T 115120325 73542805 NA19240_2008_12_16_3257581_chr19_43665429 3.20e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38973589C>T;NG_008866.1:g.54250C>T;NM_000540.2:c.4621-78C>T;NM_001042723.1:c.4621-78C>T 169707064 73542805 NA19240_36_chr19_43665429 3.20e-03 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973589C>T;NG_008866.1:g.54250C>T;NM_000540.2:c.4621-78C>T;NM_001042723.1:c.4621-78C>T 228135686 73542805 pilot_1_YRI_9945369_chr19_43665429 3.20e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38973589C>T;NG_008866.1:g.54250C>T;NM_000540.2:c.4621-78C>T;NM_001042723.1:c.4621-78C>T 482349889 73542805 HumanOmni2.5-4v1_D_kgp21518314-0_B_F_1844388903 3.20e-03 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38973589C>T;NG_008866.1:g.54250C>T;NM_000540.2:c.4621-78C>T;NM_001042723.1:c.4621-78C>T 483825926 73542805 HumanOmni2.5-4v1_B_SNP19-43665429-0_B_F_1640496882 3.20e-03 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973624C>T;NG_008866.1:g.54285C>T;NM_000540.2:c.4621-43C>T;NM_001042723.1:c.4621-43C>T 340454512 151232114 20100804_snps_12098053_chr19_38973624 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973624C>T;NG_008866.1:g.54285C>T;NM_000540.2:c.4621-43C>T;NM_001042723.1:c.4621-43C>T 491157977 151232114 20110521_exome_665775_chr19_38973624 6.90e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973633C>T;NG_008866.1:g.54294C>T;NM_000540.2:c.4621-34C>T;NM_001042723.1:c.4621-34C>T 228135687 114935281 pilot_1_YRI_9945370_chr19_43665473 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38973633C>T;NG_008866.1:g.54294C>T;NM_000540.2:c.4621-34C>T;NM_001042723.1:c.4621-34C>T 482341954 114935281 HumanOmni2.5-4v1_D_kgp21474285-0_T_R_1844300854 2.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38973633C>T;NG_008866.1:g.54294C>T;NM_000540.2:c.4621-34C>T;NM_001042723.1:c.4621-34C>T 483825928 114935281 HumanOmni2.5-4v1_B_SNP19-43665473-0_T_R_1647581263 2.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973633C>T;NG_008866.1:g.54294C>T;NM_000540.2:c.4621-34C>T;NM_001042723.1:c.4621-34C>T 491157978 114935281 20110521_exome_665776_chr19_38973633 2.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973634G>A;NG_008866.1:g.54295G>A;NM_000540.2:c.4621-33G>A;NM_001042723.1:c.4621-33G>A 465586754 181828742 20101123_snps_11753984_chr19_38973634 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973634G>A;NG_008866.1:g.54295G>A;NM_000540.2:c.4621-33G>A;NM_001042723.1:c.4621-33G>A 491157979 181828742 20110521_exome_665777_chr19_38973634 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38973696C>T;NG_008866.1:g.54357C>T;NM_000540.2:c.4650C>T;NM_001042723.1:c.4650C>T;NP_000531.2:p.Ala1550=;NP_001036188.1:p.Ala1550= 491766162 200600174 SNV-chr19-43665536 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973723C>T;NG_008866.1:g.54384C>T;NM_000540.2:c.4677C>T;NM_001042723.1:c.4677C>T;NP_000531.2:p.Asn1559=;NP_001036188.1:p.Asn1559= 465586755 186329476 20101123_snps_11753985_chr19_38973723 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973723C>T;NG_008866.1:g.54384C>T;NM_000540.2:c.4677C>T;NM_001042723.1:c.4677C>T;NP_000531.2:p.Asn1559=;NP_001036188.1:p.Asn1559= 491157980 186329476 20110521_exome_665778_chr19_38973723 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973777C>T;NG_008866.1:g.54438C>T;NM_000540.2:c.4707+24C>T;NM_001042723.1:c.4707+24C>T 340454513 140384288 20100804_snps_12098054_chr19_38973777 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973777C>T;NG_008866.1:g.54438C>T;NM_000540.2:c.4707+24C>T;NM_001042723.1:c.4707+24C>T 491157981 140384288 20110521_exome_665779_chr19_38973777 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973820G>A;NG_008866.1:g.54481G>A;NM_000540.2:c.4707+67G>A;NM_001042723.1:c.4707+67G>A 340454514 145274168 20100804_snps_12098055_chr19_38973820 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38973836_38973837insG;NG_008866.1:g.54497_54498insG;NM_000540.2:c.4707+83_4707+84insG;NM_001042723.1:c.4707+83_4707+84insG 328276231 150237779 YRI_chr19_43665680_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973836_38973837insG;NG_008866.1:g.54497_54498insG;NM_000540.2:c.4707+83_4707+84insG;NM_001042723.1:c.4707+83_4707+84insG 499576294 150237779 20110316_indels_chr19_38973840_38973841 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973933A>G;NG_008866.1:g.54594A>G;NM_000540.2:c.4711A>G;NM_001042723.1:c.4711A>G;NP_000531.2:p.Ile1571Val;NP_001036188.1:p.Ile1571Val 340454515 146429605 20100804_snps_12098056_chr19_38973933 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38973933A>G;NG_008866.1:g.54594A>G;NM_000540.2:c.4711A>G;NM_001042723.1:c.4711A>G;NP_000531.2:p.Ile1571Val;NP_001036188.1:p.Ile1571Val 342496472 146429605 ESP2500-chr19-38973933 4.10e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973933A>G;NG_008866.1:g.54594A>G;NM_000540.2:c.4711A>G;NM_001042723.1:c.4711A>G;NP_000531.2:p.Ile1571Val;NP_001036188.1:p.Ile1571Val 491157982 146429605 20110521_exome_665780_chr19_38973933 4.10e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38973933A>G;NG_008866.1:g.54594A>G;NM_000540.2:c.4711A>G;NM_001042723.1:c.4711A>G;NP_000531.2:p.Ile1571Val;NP_001036188.1:p.Ile1571Val 491546451 146429605 nonsyn_262677_chr_19_38973933 4.10e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 48401742 35480887 hCV25630451 4.60e-03 germline untested 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 340454516 35480887 20100804_snps_12098057_chr19_38973941 4.60e-03 unknown untested 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 342496473 35480887 ESP2500-chr19-38973941 4.60e-03 unknown untested 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4719G>A NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 475871504 35480887 RYR1_00010 4.60e-03 unknown untested 2011.11.25 2011.11.25 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 491157983 35480887 20110521_exome_665781_chr19_38973941 4.60e-03 germline untested 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38973941G>A;NG_008866.1:g.54602G>A;NM_000540.2:c.4719G>A;NM_001042723.1:c.4719G>A;NP_000531.2:p.Pro1573=;NP_001036188.1:p.Pro1573= 491546452 35480887 synctl_262678_chr_19_38973941 4.60e-03 unknown untested 2012.03.06 2012.03.06 2006.03.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.4729G>A NC_000019.9:g.38973951G>A;NG_008866.1:g.54612G>A;NM_000540.2:c.4729G>A;NM_001042723.1:c.4729G>A;NP_000531.2:p.Ala1577Thr;NP_001036188.1:p.Ala1577Thr 252444688 118192120 CCORE_11 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4729G>A NC_000019.9:g.38973951G>A;NG_008866.1:g.54612G>A;NM_000540.2:c.4729G>A;NM_001042723.1:c.4729G>A;NP_000531.2:p.Ala1577Thr;NP_001036188.1:p.Ala1577Thr 475871505 118192120 RYR1_00279 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38973985C>T;NG_008866.1:g.54646C>T;NM_000540.2:c.4763C>T;NM_001042723.1:c.4763C>T;NP_000531.2:p.Pro1588Leu;NP_001036188.1:p.Pro1588Leu 342496474 151029675 ESP2500-chr19-38973985 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38973985C>T;NG_008866.1:g.54646C>T;NM_000540.2:c.4763C>T;NM_001042723.1:c.4763C>T;NP_000531.2:p.Pro1588Leu;NP_001036188.1:p.Pro1588Leu 491546453 151029675 nonsyn_262679_chr_19_38973985 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4775C>T NC_000019.9:g.38973997C>T;NG_008866.1:g.54658C>T;NM_000540.2:c.4775C>T;NM_001042723.1:c.4775C>T;NP_000531.2:p.Pro1592Leu;NP_001036188.1:p.Pro1592Leu 475871506 193922777 RYR1_00120 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 SEATTLESEQ 6261 NC_000019.9:g.38974063T>C;NG_008866.1:g.54724T>C;NM_000540.2:c.4841T>C;NM_001042723.1:c.4841T>C;NP_000531.2:p.Val1614Ala;NP_001036188.1:p.Val1614Ala 159739625 78349583 RYR1-43665903 5.00e-04 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974063T>C;NG_008866.1:g.54724T>C;NM_000540.2:c.4841T>C;NM_001042723.1:c.4841T>C;NP_000531.2:p.Val1614Ala;NP_001036188.1:p.Val1614Ala 489164435 78349583 20110521_exome_255610_chr19_38974063 5.00e-04 2012.02.14 2012.02.14 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974080G>A;NG_008866.1:g.54741G>A;NM_000540.2:c.4858G>A;NM_001042723.1:c.4858G>A;NP_000531.2:p.Gly1620Ser;NP_001036188.1:p.Gly1620Ser 465586756 190382569 20101123_snps_11753986_chr19_38974080 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38974082C>T;NG_008866.1:g.54743C>T;NM_000540.2:c.4860C>T;NM_001042723.1:c.4860C>T;NP_000531.2:p.Gly1620=;NP_001036188.1:p.Gly1620= 489164437 200979691 20110521_exome_255611_chr19_38974082 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38974116C>T;NG_008866.1:g.54777C>T;NM_000540.2:c.4894C>T;NM_001042723.1:c.4894C>T;NP_000531.2:p.Pro1632Ser;NP_001036188.1:p.Pro1632Ser 159739626 76537615 RYR1-43665956 6.40e-03 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974116C>T;NG_008866.1:g.54777C>T;NM_000540.2:c.4894C>T;NM_001042723.1:c.4894C>T;NP_000531.2:p.Pro1632Ser;NP_001036188.1:p.Pro1632Ser 340454517 76537615 20100804_snps_12098058_chr19_38974116 6.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974116C>T;NG_008866.1:g.54777C>T;NM_000540.2:c.4894C>T;NM_001042723.1:c.4894C>T;NP_000531.2:p.Pro1632Ser;NP_001036188.1:p.Pro1632Ser 491157984 76537615 20110521_exome_665782_chr19_38974116 6.40e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38974116C>T;NG_008866.1:g.54777C>T;NM_000540.2:c.4894C>T;NM_001042723.1:c.4894C>T;NP_000531.2:p.Pro1632Ser;NP_001036188.1:p.Pro1632Ser 491546454 76537615 nonsyn_262680_chr_19_38974116 6.40e-03 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.4934G>A NC_000019.9:g.38974156G>A;NG_008866.1:g.54817G>A;NM_000540.2:c.4934G>A;NM_001042723.1:c.4934G>A;NP_000531.2:p.Arg1645Gln;NP_001036188.1:p.Arg1645Gln 475871507 193922778 RYR1_00327 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GMI 6261 NC_000019.9:g.38974181G>T;NG_008866.1:g.54842G>T;NM_000540.2:c.4934+25G>T;NM_001042723.1:c.4934+25G>T 155887699 78881293 GMI_SNP_135320732 9.60e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974181G>T;NG_008866.1:g.54842G>T;NM_000540.2:c.4934+25G>T;NM_001042723.1:c.4934+25G>T 243880944 78881293 pilot_1_CHB+JPT_5766021_chr19_43666021 9.60e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38974181G>T;NG_008866.1:g.54842G>T;NM_000540.2:c.4934+25G>T;NM_001042723.1:c.4934+25G>T 283205937 78881293 GMI_AK_SNP_7526358 9.60e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974181G>T;NG_008866.1:g.54842G>T;NM_000540.2:c.4934+25G>T;NM_001042723.1:c.4934+25G>T 491157985 78881293 20110521_exome_665783_chr19_38974181 9.60e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974385G>T;NG_008866.1:g.55046G>T;NM_000540.2:c.4934+229G>T;NM_001042723.1:c.4934+229G>T 340454519 149627062 20100804_snps_12098060_chr19_38974385 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38974497A>G;NG_008866.1:g.55158A>G;NM_000540.2:c.4934+341A>G;NM_001042723.1:c.4934+341A>G 465586757 182892221 20101123_snps_11753987_chr19_38974497 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38974588G>A;NG_008866.1:g.55249G>A;NM_000540.2:c.4934+432G>A;NM_001042723.1:c.4934+432G>A 228135688 116626831 pilot_1_YRI_9945371_chr19_43666428 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38974613G>A;NG_008866.1:g.55274G>A;NM_000540.2:c.4934+457G>A;NM_001042723.1:c.4934+457G>A 203750904 79672171 BUSHMAN-chr19-43666452 3.16e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974613G>A;NG_008866.1:g.55274G>A;NM_000540.2:c.4934+457G>A;NM_001042723.1:c.4934+457G>A 228135689 79672171 pilot_1_YRI_9945372_chr19_43666453 3.16e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974726G>A;NG_008866.1:g.55387G>A;NM_000540.2:c.4934+570G>A;NM_001042723.1:c.4934+570G>A 340454520 143337444 20100804_snps_12098061_chr19_38974726 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38974743G>T;NG_008866.1:g.55404G>T;NM_000540.2:c.4934+587G>T;NM_001042723.1:c.4934+587G>T 340454521 148386188 20100804_snps_12098062_chr19_38974743 2.20e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38974790G>C;NG_008866.1:g.55451G>C;NM_000540.2:c.4934+634G>C;NM_001042723.1:c.4934+634G>C 465586758 186194298 20101123_snps_11753988_chr19_38974790 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38974793_38974794insG;NG_008866.1:g.55454_55455insG;NM_000540.2:c.4934+637_4934+638insG;NM_001042723.1:c.4934+637_4934+638insG 96281038 74176444 1103691141799 2008.03.26 2008.03.26 2009.02.16 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38974863C>T;NG_008866.1:g.55524C>T;NM_000540.2:c.4934+707C>T;NM_001042723.1:c.4934+707C>T 203750905 111484073 BUSHMAN-chr19-43666702 7.88e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.38974863C>T;NG_008866.1:g.55524C>T;NM_000540.2:c.4934+707C>T;NM_001042723.1:c.4934+707C>T 255668421 111484073 SNP49630_19_43666703 7.88e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974863C>T;NG_008866.1:g.55524C>T;NM_000540.2:c.4934+707C>T;NM_001042723.1:c.4934+707C>T 340454522 111484073 20100804_snps_12098063_chr19_38974863 7.88e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974888C>T;NG_008866.1:g.55549C>T;NM_000540.2:c.4934+732C>T;NM_001042723.1:c.4934+732C>T 340454523 147529762 20100804_snps_12098064_chr19_38974888 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 85770240 57127300 Cor19129_SNV_20070510.chr19_43666783 1.82e-01 2007.12.10 2007.12.10 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 111365486 57127300 CEU.trio.12.15.2008_3616622_chr19_43666783 1.82e-01 2008.12.17 2008.12.17 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 115120335 57127300 NA19240_2008_12_16_3257582_chr19_43666783 1.82e-01 2008.12.19 2008.12.19 2007.12.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 117702535 57127300 NA18507_000043860_NCBI36.1_chr19_43666783 1.82e-01 2009.01.20 2009.01.20 2007.12.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 155887705 57127300 GMI_SNP_74278563 1.82e-01 2009.06.24 2009.06.24 2007.12.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 169707083 57127300 NA19240_36_chr19_43666783 1.82e-01 2009.10.01 2009.10.01 2007.12.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 203750906 57127300 BUSHMAN-chr19-43666782 1.82e-01 2010.03.09 2010.03.09 2007.12.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 208472103 57127300 BCM_CMT_1011-3114898 1.82e-01 2010.03.19 2010.03.19 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 228135690 57127300 pilot_1_YRI_9945373_chr19_43666783 1.82e-01 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 237674149 57127300 pilot_1_CEU_7278778_chr19_43666783 1.82e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 243880945 57127300 pilot_1_CHB+JPT_5766022_chr19_43666783 1.82e-01 2010.05.01 2010.05.01 2007.12.14 2012.11.28 137 BL 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 255668427 57127300 SNP49631_19_43666783 1.82e-01 2010.08.20 2010.08.20 2007.12.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38974943T>C;NG_008866.1:g.55604T>C;NM_000540.2:c.4934+787T>C;NM_001042723.1:c.4934+787T>C 283205938 57127300 GMI_AK_SNP_7526359 1.82e-01 2010.12.16 2010.12.16 2007.12.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38974990T>C;NG_008866.1:g.55651T>C;NM_000540.2:c.4934+834T>C;NM_001042723.1:c.4934+834T>C 208509734 73030950 BCM_CMT_1011-3127724 4.58e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38974990T>C;NG_008866.1:g.55651T>C;NM_000540.2:c.4934+834T>C;NM_001042723.1:c.4934+834T>C 465586759 73030950 20101123_snps_11753989_chr19_38974990 4.58e-02 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38974994_38974997delTCTT;NG_008866.1:g.55655_55658delTCTT;NM_000540.2:c.4934+838_4934+841delTCTT;NM_001042723.1:c.4934+838_4934+841delTCTT 193510332 113862758 BUSHMAN-chr19-43666833-43666837 2010.02.16 2010.02.16 2010.07.04 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38974994_38974997delTCTT;NG_008866.1:g.55655_55658delTCTT;NM_000540.2:c.4934+838_4934+841delTCTT;NM_001042723.1:c.4934+838_4934+841delTCTT 328276232 113862758 YRI_chr19_43666833_indel 2011.03.13 2011.04.04 2010.07.04 2011.10.06 137 HGSV 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 84457869 60125132 Cor19129_SNV_20070510.chr19_43666844 1.15e-01 2007.12.07 2007.12.07 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 203750907 60125132 BUSHMAN-chr19-43666843 1.15e-01 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 208527282 60125132 BCM_CMT_1011-3133771 1.15e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 228135692 60125132 pilot_1_YRI_9945375_chr19_43666844 1.15e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 237674151 60125132 pilot_1_CEU_7278780_chr19_43666844 1.15e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 BL 6261 NC_000019.9:g.38975004T>C;NG_008866.1:g.55665T>C;NM_000540.2:c.4934+848T>C;NM_001042723.1:c.4934+848T>C 255668432 60125132 SNP49632_19_43666844 1.15e-01 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975018T>C;NG_008866.1:g.55679T>C;NM_000540.2:c.4934+862T>C;NM_001042723.1:c.4934+862T>C 228135693 114675312 pilot_1_YRI_9945376_chr19_43666858 5.63e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38975018T>C;NG_008866.1:g.55679T>C;NM_000540.2:c.4934+862T>C;NM_001042723.1:c.4934+862T>C 237674152 114675312 pilot_1_CEU_7278781_chr19_43666858 5.63e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38975027C>G;NG_008866.1:g.55688C>G;NM_000540.2:c.4934+871C>G;NM_001042723.1:c.4934+871C>G 117702537 79937893 NA18507_000043861_NCBI36.1_chr19_43666867 1.42e-02 2009.01.20 2009.01.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975027C>G;NG_008866.1:g.55688C>G;NM_000540.2:c.4934+871C>G;NM_001042723.1:c.4934+871C>G 340454524 79937893 20100804_snps_12098065_chr19_38975027 1.42e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975075C>A;NG_008866.1:g.55736C>A;NM_000540.2:c.4934+919C>A;NM_001042723.1:c.4934+919C>A 228135694 115653125 pilot_1_YRI_9945377_chr19_43666915 6.23e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38975078C>T;NG_008866.1:g.55739C>T;NM_000540.2:c.4934+922C>T;NM_001042723.1:c.4934+922C>T 228135695 116129380 pilot_1_YRI_9945378_chr19_43666918 6.73e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38975078C>T;NG_008866.1:g.55739C>T;NM_000540.2:c.4934+922C>T;NM_001042723.1:c.4934+922C>T 283205939 116129380 GMI_AK_SNP_7526360 6.73e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975256A>C;NG_008866.1:g.55917A>C;NM_000540.2:c.4935-974A>C;NM_001042723.1:c.4935-974A>C 340454526 147284173 20100804_snps_12098067_chr19_38975256 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38975267G>A;NG_008866.1:g.55928G>A;NM_000540.2:c.4935-963G>A;NM_001042723.1:c.4935-963G>A 465586760 183215558 20101123_snps_11753990_chr19_38975267 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 14703083 10409638 chr19.NT_011109.15_11243514 3.04e-01 2003.11.10 2004.08.05 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 16801839 10409638 CSHL-HuAA-200402.chr19.NT_011109.15_11243514 3.04e-01 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 21539509 10409638 WGSA-200403-chr19.chr19.NT_011109.15_11243514 3.04e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 66600334 10409638 HumanHap300v1.1_rs10409638 3.04e-01 2006.11.09 2006.11.09 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 66882046 10409638 HumanHap550v1.1_rs10409638 3.04e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 66974516 10409638 HumanHap650Yv1.0_rs10409638 3.04e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 69228165 10409638 PGP13091283 3.04e-01 2007.01.30 2008.03.31 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 70365140 10409638 HumanHap300v2.0_rs10409638 3.04e-01 2007.04.18 2007.11.17 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 70477755 10409638 HumanHap550v3.0__rs10409638 3.04e-01 2007.04.20 2008.03.29 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 71000898 10409638 HumanHap650Yv3.0_rs10409638 3.04e-01 2007.04.23 2007.04.23 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 75445407 10409638 ILMN_Human_1M_rs10409638 3.04e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 77511045 10409638 Cor12156_SNV_20070510.chr19_43667136 3.04e-01 2007.10.13 2007.10.13 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 84934931 10409638 KHS852898 3.04e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 103437736 10409638 BGI_rs10409638 3.04e-01 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 111365502 10409638 CEU.trio.12.15.2008_3616624_chr19_43667136 3.04e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 115120343 10409638 NA19240_2008_12_16_3257583_chr19_43667136 3.04e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 117702538 10409638 NA18507_000043862_NCBI36.1_chr19_43667136 3.04e-01 2009.01.20 2009.01.20 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 121302566 10409638 HumanCNV370v1_C_rs10409638 3.04e-01 2009.04.14 2009.04.14 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 132762418 10409638 ENSSNP1527899 3.04e-01 2009.05.12 2009.10.15 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 152719969 10409638 Human610_Quadv1_B_rs10409638-128_T_F_1501621521 3.04e-01 2009.06.18 2009.06.19 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 155887712 10409638 GMI_SNP_120599259 3.04e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 159122409 10409638 Human660W-Quad_v1_A_rs10409638-128_T_F_1501621521 3.04e-01 2009.07.06 2009.07.06 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 159890456 10409638 HumanOmni1-Quad_v1-0_B_rs10409638-128_T_F_1511963690 3.04e-01 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 168183020 10409638 NA07022_36_chr19_43667136 3.04e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 169375365 10409638 HumanCNV370-Quadv3_C_rs10409638-128_T_F_1501621521 3.04e-01 2009.10.01 2009.10.02 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 169707097 10409638 NA19240_36_chr19_43667136 3.04e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 170035456 10409638 Human1M-Duov3_B_rs10409638-128_T_F_1501621521 3.04e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 203750908 10409638 BUSHMAN-chr19-43667135 3.04e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 228135696 10409638 pilot_1_YRI_9945379_chr19_43667136 3.04e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 237674153 10409638 pilot_1_CEU_7278782_chr19_43667136 3.04e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 243880946 10409638 pilot_1_CHB+JPT_5766023_chr19_43667136 3.04e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 255668436 10409638 SNP49633_19_43667136 3.04e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 283205940 10409638 GMI_AK_SNP_7526361 3.04e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 292248483 10409638 SNP_1754841_chr19_43667136 3.04e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 479258798 10409638 HumanOmni2.5-4v1_B_rs10409638-128_T_F_1772062918 3.04e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 479261719 10409638 HumanOmniExpress-12v1_C_rs10409638-131_T_F_1857078538 3.04e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 479627670 10409638 HumanOmni1-Quad_v1-0_C_rs10409638-131_T_F_1865300947 3.04e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975296G>A;NG_008866.1:g.55957G>A;NM_000540.2:c.4935-934G>A;NM_001042723.1:c.4935-934G>A 484430105 10409638 HumanOmni2.5-4v1_D_rs10409638-131_T_F_1857078538 3.04e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975326T>C;NG_008866.1:g.55987T>C;NM_000540.2:c.4935-904T>C;NM_001042723.1:c.4935-904T>C 340454527 139765277 20100804_snps_12098068_chr19_38975326 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38975377A>T;NG_008866.1:g.56038A>T;NM_000540.2:c.4935-853A>T;NM_001042723.1:c.4935-853A>T 465586761 187781937 20101123_snps_11753991_chr19_38975377 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38975388_38975391delTTGC;NG_008866.1:g.56049_56052delTTGC;NM_000540.2:c.4935-842_4935-839delTTGC;NM_001042723.1:c.4935-842_4935-839delTTGC 328276233 143102890 YRI_chr19_43667227_indel 2.20e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975388_38975391delTTGC;NG_008866.1:g.56049_56052delTTGC;NM_000540.2:c.4935-842_4935-839delTTGC;NM_001042723.1:c.4935-842_4935-839delTTGC 499576298 143102890 20110316_indels_chr19_38975387_38975390 2.20e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 111365508 73030953 CEU.trio.12.15.2008_3616625_chr19_43667289 8.20e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 155887719 73030953 GMI_SNP_74127531 8.20e-02 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 208496815 73030953 BCM_CMT_1011-3123178 8.20e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 228135697 73030953 pilot_1_YRI_9945380_chr19_43667289 8.20e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 237674154 73030953 pilot_1_CEU_7278783_chr19_43667289 8.20e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 243880947 73030953 pilot_1_CHB+JPT_5766024_chr19_43667289 8.20e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 283205941 73030953 GMI_AK_SNP_7526362 8.20e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 483825930 73030953 HumanOmni2.5-4v1_B_SNP19-43667289-0_B_F_1622845997 8.20e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975449T>C;NG_008866.1:g.56110T>C;NM_000540.2:c.4935-781T>C;NM_001042723.1:c.4935-781T>C 484156248 73030953 HumanOmni2.5-4v1_D_kgp880419-0_B_F_1816467909 8.20e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ABI 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 41044479 34853245 hCV7821737 5.00e-03 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 90969888 34853245 JWB-1168182 5.00e-03 2008.03.01 2008.03.01 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 96305663 34853245 1103691141801 5.00e-03 2008.03.26 2008.03.26 2006.03.14 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 137670321 34853245 ENSSNP6160196 5.00e-03 2009.05.16 2009.05.16 2006.03.14 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 139715620 34853245 ENSSNP3565666 5.00e-03 2009.05.19 2009.10.16 2006.03.14 2011.09.09 137 PJP 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 292248484 34853245 SNP_1754842_chr19_43667401 5.00e-03 2011.01.21 2011.01.21 2006.03.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38975561G>T;NG_008866.1:g.56222G>T;NM_000540.2:c.4935-669G>T;NM_001042723.1:c.4935-669G>T 340454528 34853245 20100804_snps_12098069_chr19_38975561 5.00e-03 2011.03.22 2011.03.22 2006.03.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38975594G>C;NG_008866.1:g.56255G>C;NM_000540.2:c.4935-636G>C;NM_001042723.1:c.4935-636G>C 169707114 113603456 NA19240_36_chr19_43667434 3.20e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975594G>C;NG_008866.1:g.56255G>C;NM_000540.2:c.4935-636G>C;NM_001042723.1:c.4935-636G>C 228135698 113603456 pilot_1_YRI_9945381_chr19_43667434 3.20e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975706G>T;NG_008866.1:g.56367G>T;NM_000540.2:c.4935-524G>T;NM_001042723.1:c.4935-524G>T 465586762 191571905 20101123_snps_11753992_chr19_38975706 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38975725T>G;NG_008866.1:g.56386T>G;NM_000540.2:c.4935-505T>G;NM_001042723.1:c.4935-505T>G 465586763 183271028 20101123_snps_11753993_chr19_38975725 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38975727G>A;NG_008866.1:g.56388G>A;NM_000540.2:c.4935-503G>A;NM_001042723.1:c.4935-503G>A 465586764 187986777 20101123_snps_11753994_chr19_38975727 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38975783G>C;NG_008866.1:g.56444G>C;NM_000540.2:c.4935-447G>C;NM_001042723.1:c.4935-447G>C 155887728 76424018 GMI_SNP_74280609 9.60e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975783G>C;NG_008866.1:g.56444G>C;NM_000540.2:c.4935-447G>C;NM_001042723.1:c.4935-447G>C 243880948 76424018 pilot_1_CHB+JPT_5766025_chr19_43667623 9.60e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38975783G>C;NG_008866.1:g.56444G>C;NM_000540.2:c.4935-447G>C;NM_001042723.1:c.4935-447G>C 283205942 76424018 GMI_AK_SNP_7526363 9.60e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975812T>G;NG_008866.1:g.56473T>G;NM_000540.2:c.4935-418T>G;NM_001042723.1:c.4935-418T>G 340454530 148448010 20100804_snps_12098071_chr19_38975812 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 17623861 11882267 CSHL-HuCC-200402.chr19.NT_011109.15_11244084 8.10e-02 2004.02.19 2006.10.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 111365517 11882267 CEU.trio.12.15.2008_3616626_chr19_43667706 8.10e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 155887734 11882267 GMI_SNP_74148638 8.10e-02 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 208471237 11882267 BCM_CMT_1011-3114615 8.10e-02 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 228135699 11882267 pilot_1_YRI_9945382_chr19_43667706 8.10e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 243880949 11882267 pilot_1_CHB+JPT_5766026_chr19_43667706 8.10e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 283205943 11882267 GMI_AK_SNP_7526364 8.10e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 482342205 11882267 HumanOmni2.5-4v1_D_kgp21475634-0_B_F_1844303551 8.10e-02 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38975866C>T;NG_008866.1:g.56527C>T;NM_000540.2:c.4935-364C>T;NM_001042723.1:c.4935-364C>T 483825934 11882267 HumanOmni2.5-4v1_B_SNP19-43667706-0_B_F_1624390986 8.10e-02 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38975906C>G;NG_008866.1:g.56567C>G;NM_000540.2:c.4935-324C>G;NM_001042723.1:c.4935-324C>G 465586765 191975885 20101123_snps_11753995_chr19_38975906 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38976016C>T;NG_008866.1:g.56677C>T;NM_000540.2:c.4935-214C>T;NM_001042723.1:c.4935-214C>T 465586766 185237532 20101123_snps_11753996_chr19_38976016 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 23763123 16972651 afd3515961 1.83e-01 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 52072069 16972651 NT_011109.15_11244395 1.83e-01 2006.03.29 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 67162926 16972651 HumanHap550v1.1_rs16972651 1.83e-01 2006.11.14 2006.11.14 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 67513525 16972651 HumanHap650Yv1.0_rs16972651 1.83e-01 2006.11.14 2006.11.14 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 68167952 16972651 HumanHap250Sv1.0_rs16972651 1.83e-01 2006.12.06 2006.12.07 2004.09.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 69228166 16972651 PGP03515961 1.83e-01 2007.01.30 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 70647503 16972651 HumanHap550v3.0__rs16972651 1.83e-01 2007.04.20 2008.03.30 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 71202862 16972651 HumanHap650Yv3.0_rs16972651 1.83e-01 2007.04.23 2007.04.23 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 75616843 16972651 ILMN_Human_1M_rs16972651 1.83e-01 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 85344216 16972651 KHS970578 1.83e-01 2007.12.09 2007.12.09 2004.09.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 85901093 16972651 Cor19129_SNV_20070510.chr19_43668017 1.83e-01 2007.12.10 2007.12.10 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 111365524 16972651 CEU.trio.12.15.2008_3616627_chr19_43668017 1.83e-01 2008.12.17 2008.12.17 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 115120359 16972651 NA19240_2008_12_16_3257585_chr19_43668017 1.83e-01 2008.12.19 2008.12.19 2004.09.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 117702541 16972651 NA18507_000043863_NCBI36.1_chr19_43668017 1.83e-01 2009.01.20 2009.01.20 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 153588530 16972651 Human610_Quadv1_B_rs16972651-123_B_F_1502154820 1.83e-01 2009.06.19 2009.06.19 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 155887741 16972651 GMI_SNP_40854406 1.83e-01 2009.06.24 2009.06.24 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 159300670 16972651 Human660W-Quad_v1_A_rs16972651-123_B_F_1502154820 1.83e-01 2009.07.06 2009.07.06 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 160404877 16972651 HumanOmni1-Quad_v1-0_B_rs16972651-123_B_F_1501441628 1.83e-01 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 169707128 16972651 NA19240_36_chr19_43668017 1.83e-01 2009.10.01 2009.10.01 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 172686588 16972651 Human1M-Duov3_B_rs16972651-123_B_F_1502154820 1.83e-01 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 203750909 16972651 BUSHMAN-chr19-43668016 1.83e-01 2010.03.09 2010.03.09 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 208456779 16972651 BCM_CMT_1011-3109759 1.83e-01 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 228135700 16972651 pilot_1_YRI_9945383_chr19_43668017 1.83e-01 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 237674155 16972651 pilot_1_CEU_7278784_chr19_43668017 1.83e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 243880950 16972651 pilot_1_CHB+JPT_5766027_chr19_43668017 1.83e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 BL 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 255668441 16972651 SNP49634_19_43668017 1.83e-01 2010.08.20 2010.08.20 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 283205944 16972651 GMI_AK_SNP_7526365 1.83e-01 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 480128069 16972651 HumanOmni2.5-4v1_B_rs16972651-128_B_F_1782958396 1.83e-01 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 480137123 16972651 HumanOmniExpress-12v1_C_rs16972651-131_B_F_1857680326 1.83e-01 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 480836459 16972651 HumanOmni1-Quad_v1-0_C_rs16972651-131_B_F_1865150072 1.83e-01 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 484862023 16972651 HumanOmni2.5-4v1_D_rs16972651-131_B_F_1857680326 1.83e-01 2012.02.04 2012.02.04 2004.09.20 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976177T>G;NG_008866.1:g.56838T>G;NM_000540.2:c.4935-53T>G;NM_001042723.1:c.4935-53T>G 491766163 16972651 SNV-chr19-43668017 1.83e-01 2012.03.07 2012.03.13 2004.09.20 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976266C>T;NG_008866.1:g.56927C>T;NM_000540.2:c.4971C>T;NM_001042723.1:c.4971C>T;NP_000531.2:p.Asp1657=;NP_001036188.1:p.Asp1657= 342496475 141107290 ESP2500-chr19-38976266 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976266C>T;NG_008866.1:g.56927C>T;NM_000540.2:c.4971C>T;NM_001042723.1:c.4971C>T;NP_000531.2:p.Asp1657=;NP_001036188.1:p.Asp1657= 491766164 141107290 SNV-chr19-43668106 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976274G>C;NG_008866.1:g.56935G>C;NM_000540.2:c.4979G>C;NM_001042723.1:c.4979G>C;NP_000531.2:p.Arg1660Pro;NP_001036188.1:p.Arg1660Pro 491546455 200625526 nonsyn_262681_chr_19_38976274 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38976294C>T;NG_008866.1:g.56955C>T;NM_000540.2:c.4999C>T;NM_001042723.1:c.4999C>T;NP_000531.2:p.Arg1667Cys;NP_001036188.1:p.Arg1667Cys 340454531 144157950 20100804_snps_12098072_chr19_38976294 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976294C>T;NG_008866.1:g.56955C>T;NM_000540.2:c.4999C>T;NM_001042723.1:c.4999C>T;NP_000531.2:p.Arg1667Cys;NP_001036188.1:p.Arg1667Cys 342496476 144157950 ESP2500-chr19-38976294 3.20e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976294C>T;NG_008866.1:g.56955C>T;NM_000540.2:c.4999C>T;NM_001042723.1:c.4999C>T;NP_000531.2:p.Arg1667Cys;NP_001036188.1:p.Arg1667Cys 491157986 144157950 20110521_exome_665784_chr19_38976294 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976294C>T;NG_008866.1:g.56955C>T;NM_000540.2:c.4999C>T;NM_001042723.1:c.4999C>T;NP_000531.2:p.Arg1667Cys;NP_001036188.1:p.Arg1667Cys 491546456 144157950 nonsyn_262682_chr_19_38976294 3.20e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976294C>T;NG_008866.1:g.56955C>T;NM_000540.2:c.4999C>T;NM_001042723.1:c.4999C>T;NP_000531.2:p.Arg1667Cys;NP_001036188.1:p.Arg1667Cys 491766165 144157950 SNV-chr19-43668134 3.20e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976295G>A;NG_008866.1:g.56956G>A;NM_000540.2:c.5000G>A;NM_001042723.1:c.5000G>A;NP_000531.2:p.Arg1667His;NP_001036188.1:p.Arg1667His 342496477 138978909 ESP2500-chr19-38976295 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976295G>A;NG_008866.1:g.56956G>A;NM_000540.2:c.5000G>A;NM_001042723.1:c.5000G>A;NP_000531.2:p.Arg1667His;NP_001036188.1:p.Arg1667His 491546457 138978909 nonsyn_262683_chr_19_38976295 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976331G>A;NG_008866.1:g.56992G>A;NM_000540.2:c.5036G>A;NM_001042723.1:c.5036G>A;NP_000531.2:p.Arg1679His;NP_001036188.1:p.Arg1679His 340454532 146504767 20100804_snps_12098073_chr19_38976331 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976331G>A;NG_008866.1:g.56992G>A;NM_000540.2:c.5036G>A;NM_001042723.1:c.5036G>A;NP_000531.2:p.Arg1679His;NP_001036188.1:p.Arg1679His 342496478 146504767 ESP2500-chr19-38976331 1.80e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976331G>A;NG_008866.1:g.56992G>A;NM_000540.2:c.5036G>A;NM_001042723.1:c.5036G>A;NP_000531.2:p.Arg1679His;NP_001036188.1:p.Arg1679His 491157987 146504767 20110521_exome_665785_chr19_38976331 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976331G>A;NG_008866.1:g.56992G>A;NM_000540.2:c.5036G>A;NM_001042723.1:c.5036G>A;NP_000531.2:p.Arg1679His;NP_001036188.1:p.Arg1679His 491546458 146504767 nonsyn_262684_chr_19_38976331 1.80e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976331G>A;NG_008866.1:g.56992G>A;NM_000540.2:c.5036G>A;NM_001042723.1:c.5036G>A;NP_000531.2:p.Arg1679His;NP_001036188.1:p.Arg1679His 491766166 146504767 SNV-chr19-43668171 1.80e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 48401745 34169029 hCV25630446 3.20e-03 2005.11.30 2005.11.30 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 115120367 34169029 NA19240_2008_12_16_3257586_chr19_43668172 3.20e-03 2008.12.19 2008.12.19 2006.03.13 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 159739627 34169029 RYR1-43668172 3.20e-03 2009.07.10 2009.07.10 2006.03.13 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 169707143 34169029 NA19240_36_chr19_43668172 3.20e-03 2009.10.01 2009.10.01 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 340454533 34169029 20100804_snps_12098074_chr19_38976332 3.20e-03 2011.03.22 2011.03.22 2006.03.13 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 342496479 34169029 ESP2500-chr19-38976332 3.20e-03 2011.03.27 2011.03.27 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 491157988 34169029 20110521_exome_665786_chr19_38976332 3.20e-03 2012.02.22 2012.02.22 2006.03.13 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976332C>G;NG_008866.1:g.56993C>G;NM_000540.2:c.5037C>G;NM_001042723.1:c.5037C>G;NP_000531.2:p.Arg1679=;NP_001036188.1:p.Arg1679= 491766167 34169029 SNV-chr19-43668172 3.20e-03 2012.03.07 2012.03.13 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976341C>T;NG_008866.1:g.57002C>T;NM_000540.2:c.5046C>T;NM_001042723.1:c.5046C>T;NP_000531.2:p.His1682=;NP_001036188.1:p.His1682= 465586767 188554722 20101123_snps_11753997_chr19_38976341 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976341C>T;NG_008866.1:g.57002C>T;NM_000540.2:c.5046C>T;NM_001042723.1:c.5046C>T;NP_000531.2:p.His1682=;NP_001036188.1:p.His1682= 491157989 188554722 20110521_exome_665787_chr19_38976341 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976404A>C;NG_008866.1:g.57065A>C;NM_000540.2:c.5109A>C;NM_001042723.1:c.5109A>C;NP_000531.2:p.Pro1703=;NP_001036188.1:p.Pro1703= 489164439 200556164 20110521_exome_255612_chr19_38976404 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5110G>A NC_000019.9:g.38976405G>A;NG_008866.1:g.57066G>A;NM_000540.2:c.5110G>A;NM_001042723.1:c.5110G>A;NP_000531.2:p.Gly1704Ser;NP_001036188.1:p.Gly1704Ser 475871508 193922779 RYR1_00326 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 APPLERA_GI 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 48401746 35352076 hCV25630447 2.20e-02 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 228135701 35352076 pilot_1_YRI_9945384_chr19_43668247 2.20e-02 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 342496480 35352076 ESP2500-chr19-38976407 2.20e-02 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 482325570 35352076 HumanOmni2.5-4v1_D_kgp21384188-0_T_R_1844120674 2.20e-02 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 483825936 35352076 HumanOmni2.5-4v1_B_SNP19-43668247-0_T_R_1637717785 2.20e-02 2012.02.03 2012.02.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 491157990 35352076 20110521_exome_665788_chr19_38976407 2.20e-02 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976407C>T;NG_008866.1:g.57068C>T;NM_000540.2:c.5112C>T;NM_001042723.1:c.5112C>T;NP_000531.2:p.Gly1704=;NP_001036188.1:p.Gly1704= 491766168 35352076 SNV-chr19-43668247 2.20e-02 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5182T>C NC_000019.9:g.38976477T>C;NG_008866.1:g.57138T>C;NM_000540.2:c.5182T>C;NM_001042723.1:c.5182T>C;NP_000531.2:p.Ser1728Pro;NP_001036188.1:p.Ser1728Pro 475871509 193922780 RYR1_00197 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.5183C>T NC_000019.9:g.38976478C>T;NG_008866.1:g.57139C>T;NM_000540.2:c.5183C>T;NM_001042723.1:c.5183C>T;NP_000531.2:p.Ser1728Phe;NP_001036188.1:p.Ser1728Phe 475871510 193922781 RYR1_00231 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.5186T>G NC_000019.9:g.38976481T>G;NG_008866.1:g.57142T>G;NM_000540.2:c.5186T>G;NM_001042723.1:c.5186T>G;NP_000531.2:p.Met1729Arg;NP_001036188.1:p.Met1729Arg 475871511 193922782 RYR1_00091 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 BUSHMAN 6261 NC_000019.9:g.38976517C>G;NG_008866.1:g.57178C>G;NM_000540.2:c.5222C>G;NM_001042723.1:c.5222C>G;NP_000531.2:p.Thr1741Ser;NP_001036188.1:p.Thr1741Ser 203750910 113916242 BUSHMAN-chr19-43668356 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38976530G>A;NG_008866.1:g.57191G>A;NM_000540.2:c.5235G>A;NM_001042723.1:c.5235G>A;NP_000531.2:p.Thr1745=;NP_001036188.1:p.Thr1745= 342496481 149471411 ESP2500-chr19-38976530 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38976582C>T;NG_008866.1:g.57243C>T;NM_000540.2:c.5287C>T;NM_001042723.1:c.5287C>T;NP_000531.2:p.Pro1763Ser;NP_001036188.1:p.Pro1763Ser 489164441 202225176 20110521_exome_255613_chr19_38976582 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976612C>T;NG_008866.1:g.57273C>T;NM_000540.2:c.5317C>T;NM_001042723.1:c.5317C>T;NP_000531.2:p.Pro1773Ser;NP_001036188.1:p.Pro1773Ser 465586768 192863857 20101123_snps_11753998_chr19_38976612 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976612C>T;NG_008866.1:g.57273C>T;NM_000540.2:c.5317C>T;NM_001042723.1:c.5317C>T;NP_000531.2:p.Pro1773Ser;NP_001036188.1:p.Pro1773Ser 491157991 192863857 20110521_exome_665789_chr19_38976612 2.70e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976612C>T;NG_008866.1:g.57273C>T;NM_000540.2:c.5317C>T;NM_001042723.1:c.5317C>T;NP_000531.2:p.Pro1773Ser;NP_001036188.1:p.Pro1773Ser 491546459 192863857 nonsyn_262685_chr_19_38976612 2.70e-03 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976616C>T;NG_008866.1:g.57277C>T;NM_000540.2:c.5321C>T;NM_001042723.1:c.5321C>T;NP_000531.2:p.Pro1774Leu;NP_001036188.1:p.Pro1774Leu 489164444 199837883 20110521_exome_255614_chr19_38976616 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 48401743 35566549 hCV22273639 6.50e-02 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 84626465 35566549 Cor19129_SNV_20070510.chr19_43668469 6.50e-02 2007.12.07 2007.12.07 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 115120375 35566549 NA19240_2008_12_16_3257587_chr19_43668469 6.50e-02 2008.12.19 2008.12.19 2006.03.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 159739628 35566549 RYR1-43668469 6.50e-02 2009.07.10 2009.07.10 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 169707158 35566549 NA19240_36_chr19_43668469 6.50e-02 2009.10.01 2009.10.01 2006.03.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 203750911 35566549 BUSHMAN-chr19-43668468 6.50e-02 2010.03.09 2010.03.09 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 228135702 35566549 pilot_1_YRI_9945385_chr19_43668469 6.50e-02 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 342496482 35566549 ESP2500-chr19-38976629 6.50e-02 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 491157992 35566549 20110521_exome_665790_chr19_38976629 6.50e-02 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976629G>T;NG_008866.1:g.57290G>T;NM_000540.2:c.5334G>T;NM_001042723.1:c.5334G>T;NP_000531.2:p.Ser1778=;NP_001036188.1:p.Ser1778= 491766169 35566549 SNV-chr19-43668469 6.50e-02 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 48401744 34934920 hCV27528544 1.01e-02 germline untested 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 161063690 34934920 HumanOmni1-Quad_v1-0_B_SNP19-43668495-0_B_F_1588130827 1.01e-02 germline untested 2009.08.07 2009.10.05 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 237674156 34934920 pilot_1_CEU_7278785_chr19_43668495 1.01e-02 unknown untested 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 342496483 34934920 ESP2500-chr19-38976655 1.01e-02 germline untested 2011.03.27 2011.03.27 2006.03.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5360C>T NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 475871512 34934920 RYR1_00068 1.01e-02 germline untested 2011.11.25 2011.11.25 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 479183296 34934920 HumanOmni1-Quad_v1-0_C_kgp12119264-0_B_F_1814882904 1.01e-02 unknown untested 2012.01.30 2012.01.30 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 479936571 34934920 HumanOmni2.5-4v1_D_kgp12119264-0_B_F_1814882904 1.01e-02 germline untested 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 483825938 34934920 HumanOmni2.5-4v1_B_SNP19-43668495-0_B_F_1622633488 1.01e-02 unknown untested 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 491157993 34934920 20110521_exome_665791_chr19_38976655 1.01e-02 germline untested 2012.02.22 2012.02.22 2006.03.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 491546460 34934920 nonsyn_262686_chr_19_38976655 1.01e-02 unknown untested 2012.03.06 2012.03.06 2006.03.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976655C>T;NG_008866.1:g.57316C>T;NM_000540.2:c.5360C>T;NM_001042723.1:c.5360C>T;NP_000531.2:p.Pro1787Leu;NP_001036188.1:p.Pro1787Leu 491766170 34934920 SNV-chr19-43668495 1.01e-02 unknown untested 2012.03.07 2012.03.13 2006.03.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976659T>G;NG_008866.1:g.57320T>G;NM_000540.2:c.5364T>G;NM_001042723.1:c.5364T>G;NP_000531.2:p.Ala1788=;NP_001036188.1:p.Ala1788= 491766171 200950362 SNV-chr19-43668499 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976679C>T;NG_008866.1:g.57340C>T;NM_000540.2:c.5384C>T;NM_001042723.1:c.5384C>T;NP_000531.2:p.Pro1795Leu;NP_001036188.1:p.Pro1795Leu 342496484 141379562 ESP2500-chr19-38976679 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38976722C>G;NG_008866.1:g.57383C>G;NM_000540.2:c.5427C>G;NM_001042723.1:c.5427C>G;NP_000531.2:p.Asp1809Glu;NP_001036188.1:p.Asp1809Glu 489164446 201086478 20110521_exome_255615_chr19_38976722 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976734G>A;NG_008866.1:g.57395G>A;NM_000540.2:c.5439G>A;NM_001042723.1:c.5439G>A;NP_000531.2:p.Arg1813=;NP_001036188.1:p.Arg1813= 342496485 147424734 ESP2500-chr19-38976734 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976734G>A;NG_008866.1:g.57395G>A;NM_000540.2:c.5439G>A;NM_001042723.1:c.5439G>A;NP_000531.2:p.Arg1813=;NP_001036188.1:p.Arg1813= 491766172 147424734 SNV-chr19-43668574 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5441T>A NC_000019.9:g.38976736T>A;NG_008866.1:g.57397T>A;NM_000540.2:c.5441T>A;NM_001042723.1:c.5441T>A;NP_000531.2:p.Met1814Lys;NP_001036188.1:p.Met1814Lys 475871513 193922783 RYR1_00092 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38976756G>T;NG_008866.1:g.57417G>T;NM_000540.2:c.5461G>T;NM_001042723.1:c.5461G>T;NP_000531.2:p.Asp1821Tyr;NP_001036188.1:p.Asp1821Tyr 342496486 139709595 ESP2500-chr19-38976756 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38976782C>T;NG_008866.1:g.57443C>T;NM_000540.2:c.5487C>T;NM_001042723.1:c.5487C>T;NP_000531.2:p.Pro1829=;NP_001036188.1:p.Pro1829= 342496487 145224633 ESP2500-chr19-38976782 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976782C>T;NG_008866.1:g.57443C>T;NM_000540.2:c.5487C>T;NM_001042723.1:c.5487C>T;NP_000531.2:p.Pro1829=;NP_001036188.1:p.Pro1829= 491766173 145224633 SNV-chr19-43668622 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38976783G>A;NG_008866.1:g.57444G>A;NM_000540.2:c.5488G>A;NM_001042723.1:c.5488G>A;NP_000531.2:p.Val1830Ile;NP_001036188.1:p.Val1830Ile 342496488 147603571 ESP2500-chr19-38976783 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38976788G>T;NG_008866.1:g.57449G>T;NM_000540.2:c.5493G>T;NM_001042723.1:c.5493G>T;NP_000531.2:p.Gly1831=;NP_001036188.1:p.Gly1831= 342496489 140004449 ESP2500-chr19-38976788 6.00e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976788G>T;NG_008866.1:g.57449G>T;NM_000540.2:c.5493G>T;NM_001042723.1:c.5493G>T;NP_000531.2:p.Gly1831=;NP_001036188.1:p.Gly1831= 489164448 140004449 20110521_exome_255616_chr19_38976788 6.00e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5495G>C NC_000019.9:g.38976790G>C;NG_008866.1:g.57451G>C;NM_000540.2:c.5495G>C;NM_001042723.1:c.5495G>C;NP_000531.2:p.Gly1832Ala;NP_001036188.1:p.Gly1832Ala 475871514 193922784 RYR1_00179 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38976864C>T;NG_008866.1:g.57525C>T;NM_000540.2:c.5547+22C>T;NM_001042723.1:c.5547+22C>T 491766174 200581343 SNV-chr19-43668704 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976865C>T;NG_008866.1:g.57526C>T;NM_000540.2:c.5547+23C>T;NM_001042723.1:c.5547+23C>T 465586769 184902961 20101123_snps_11753999_chr19_38976865 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976865C>T;NG_008866.1:g.57526C>T;NM_000540.2:c.5547+23C>T;NM_001042723.1:c.5547+23C>T 491157994 184902961 20110521_exome_665792_chr19_38976865 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 HGSV 6261 NC_000019.9:g.38976927A>T;NG_008866.1:g.57588A>T;NM_000540.2:c.5547+85A>T;NM_001042723.1:c.5547+85A>T 78896392 56120885 Cor18507_SNV_20070510.chr19_43668767 1.42e-02 2007.10.21 2007.10.21 2007.12.07 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38976927A>T;NG_008866.1:g.57588A>T;NM_000540.2:c.5547+85A>T;NM_001042723.1:c.5547+85A>T 117702542 56120885 NA18507_000043864_NCBI36.1_chr19_43668767 1.42e-02 2009.01.20 2009.01.20 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976927A>T;NG_008866.1:g.57588A>T;NM_000540.2:c.5547+85A>T;NM_001042723.1:c.5547+85A>T 340454534 56120885 20100804_snps_12098075_chr19_38976927 1.42e-02 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976962T>C;NG_008866.1:g.57623T>C;NM_000540.2:c.5547+120T>C;NM_001042723.1:c.5547+120T>C 465586770 188013375 20101123_snps_11754000_chr19_38976962 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38976974C>G;NG_008866.1:g.57635C>G;NM_000540.2:c.5547+132C>G;NM_001042723.1:c.5547+132C>G 465586771 180925407 20101123_snps_11754001_chr19_38976974 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38976987A>G;NG_008866.1:g.57648A>G;NM_000540.2:c.5547+145A>G;NM_001042723.1:c.5547+145A>G 211962591 116279285 YRI.trio.3.2010_1440233_chr19_43668827 3.20e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38976987A>G;NG_008866.1:g.57648A>G;NM_000540.2:c.5547+145A>G;NM_001042723.1:c.5547+145A>G 228135703 116279285 pilot_1_YRI_9945386_chr19_43668827 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38977008C>T;NG_008866.1:g.57669C>T;NM_000540.2:c.5547+166C>T;NM_001042723.1:c.5547+166C>T 203750912 113695226 BUSHMAN-chr19-43668847 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38977022C>T;NG_008866.1:g.57683C>T;NM_000540.2:c.5547+180C>T;NM_001042723.1:c.5547+180C>T 340454535 151180318 20100804_snps_12098076_chr19_38977022 2.06e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38977023G>A;NG_008866.1:g.57684G>A;NM_000540.2:c.5547+181G>A;NM_001042723.1:c.5547+181G>A 465586772 184522769 20101123_snps_11754002_chr19_38977023 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38977070G>A;NG_008866.1:g.57731G>A;NM_000540.2:c.5547+228G>A;NM_001042723.1:c.5547+228G>A 465586773 189357151 20101123_snps_11754003_chr19_38977070 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 21543143 12982083 WGSA-200403-chr19.chr19.NT_011109.15_11245323 1.19e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 41030666 12982083 hCV7821730 1.19e-02 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 90969890 12982083 JWB-1168183 1.19e-02 2008.03.01 2008.03.01 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 96305664 12982083 1103691141802 1.19e-02 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 132762421 12982083 ENSSNP1527900 1.19e-02 2009.05.12 2009.10.15 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 137670324 12982083 ENSSNP11444313 1.19e-02 2009.05.16 2009.05.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 292248485 12982083 SNP_1754843_chr19_43668945 1.19e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38977105C>T;NG_008866.1:g.57766C>T;NM_000540.2:c.5547+263C>T;NM_001042723.1:c.5547+263C>T 465586774 12982083 20101123_snps_11754004_chr19_38977105 1.19e-02 2011.07.20 2011.07.20 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38977235C>A;NG_008866.1:g.57896C>A;NM_000540.2:c.5547+393C>A;NM_001042723.1:c.5547+393C>A 155887749 77886329 GMI_SNP_241072684 5.77e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38977235C>A;NG_008866.1:g.57896C>A;NM_000540.2:c.5547+393C>A;NM_001042723.1:c.5547+393C>A 283205945 77886329 GMI_AK_SNP_7526366 5.77e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38977235C>A;NG_008866.1:g.57896C>A;NM_000540.2:c.5547+393C>A;NM_001042723.1:c.5547+393C>A 340454536 77886329 20100804_snps_12098077_chr19_38977235 5.77e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38977415A>G;NG_008866.1:g.58076A>G;NM_000540.2:c.5547+573A>G;NM_001042723.1:c.5547+573A>G 340454537 150252938 20100804_snps_12098078_chr19_38977415 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38977470A>G;NG_008866.1:g.58131A>G;NM_000540.2:c.5547+628A>G;NM_001042723.1:c.5547+628A>G 465586775 186960979 20101123_snps_11754005_chr19_38977470 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38977590C>T;NG_008866.1:g.58251C>T;NM_000540.2:c.5547+748C>T;NM_001042723.1:c.5547+748C>T 203750913 113190617 BUSHMAN-chr19-43669429 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38977611A>G;NG_008866.1:g.58272A>G;NM_000540.2:c.5547+769A>G;NM_001042723.1:c.5547+769A>G 465586776 191702466 20101123_snps_11754006_chr19_38977611 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38977643A>G;NG_008866.1:g.58304A>G;NM_000540.2:c.5547+801A>G;NM_001042723.1:c.5547+801A>G 228135704 76725393 pilot_1_YRI_9945387_chr19_43669483 1.56e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38977703A>G;NG_008866.1:g.58364A>G;NM_000540.2:c.5547+861A>G;NM_001042723.1:c.5547+861A>G 228135705 75473307 pilot_1_YRI_9945388_chr19_43669543 8.20e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38977703A>G;NG_008866.1:g.58364A>G;NM_000540.2:c.5547+861A>G;NM_001042723.1:c.5547+861A>G 482329856 75473307 HumanOmni2.5-4v1_D_kgp21407194-0_B_R_1844166683 8.20e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38977703A>G;NG_008866.1:g.58364A>G;NM_000540.2:c.5547+861A>G;NM_001042723.1:c.5547+861A>G 483825940 75473307 HumanOmni2.5-4v1_B_SNP19-43669543-0_B_R_1637752030 8.20e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38977845C>G;NG_008866.1:g.58506C>G;NM_000540.2:c.5547+1003C>G;NM_001042723.1:c.5547+1003C>G 203750914 112029359 BUSHMAN-chr19-43669684 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38977999T>G;NG_008866.1:g.58660T>G;NM_000540.2:c.5547+1157T>G;NM_001042723.1:c.5547+1157T>G 228135706 78962501 pilot_1_YRI_9945389_chr19_43669839 5.17e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38977999T>G;NG_008866.1:g.58660T>G;NM_000540.2:c.5547+1157T>G;NM_001042723.1:c.5547+1157T>G 237674157 78962501 pilot_1_CEU_7278786_chr19_43669839 5.17e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38978122T>C;NG_008866.1:g.58783T>C;NM_000540.2:c.5547+1280T>C;NM_001042723.1:c.5547+1280T>C 340454538 138905107 20100804_snps_12098079_chr19_38978122 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 85985839 58636221 Cor19129_SNV_20070510.chr19_43669965 1.90e-01 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 142835099 58636221 ENSSNP8172967 1.90e-01 2009.06.05 2009.10.19 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 155887754 58636221 GMI_SNP_153889046 1.90e-01 2009.06.24 2009.06.24 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 169707173 58636221 NA19240_36_chr19_43669965 1.90e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 203750915 58636221 BUSHMAN-chr19-43669964 1.90e-01 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 283205946 58636221 GMI_AK_SNP_7526367 1.90e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978125A>C;NG_008866.1:g.58786A>C;NM_000540.2:c.5547+1283A>C;NM_001042723.1:c.5547+1283A>C 340454539 58636221 20100804_snps_12098080_chr19_38978125 1.90e-01 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978155G>A;NG_008866.1:g.58816G>A;NM_000540.2:c.5547+1313G>A;NM_001042723.1:c.5547+1313G>A 340454540 147114308 20100804_snps_12098081_chr19_38978155 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38978236C>T;NG_008866.1:g.58897C>T;NM_000540.2:c.5547+1394C>T;NM_001042723.1:c.5547+1394C>T 340454541 138536547 20100804_snps_12098082_chr19_38978236 3.25e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38978243C>T;NG_008866.1:g.58904C>T;NM_000540.2:c.5547+1401C>T;NM_001042723.1:c.5547+1401C>T 85545555 61665287 Cor19129_SNV_20070510.chr19_43670083 5.49e-02 2007.12.09 2007.12.09 2007.12.16 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38978243C>T;NG_008866.1:g.58904C>T;NM_000540.2:c.5547+1401C>T;NM_001042723.1:c.5547+1401C>T 208542758 61665287 BCM_CMT_1011-3138907 5.49e-02 2010.03.19 2010.03.19 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978243C>T;NG_008866.1:g.58904C>T;NM_000540.2:c.5547+1401C>T;NM_001042723.1:c.5547+1401C>T 237674158 61665287 pilot_1_CEU_7278787_chr19_43670083 5.49e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.38978243C>T;NG_008866.1:g.58904C>T;NM_000540.2:c.5547+1401C>T;NM_001042723.1:c.5547+1401C>T 283205947 61665287 GMI_AK_SNP_7526368 5.49e-02 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978282G>A;NG_008866.1:g.58943G>A;NM_000540.2:c.5547+1440G>A;NM_001042723.1:c.5547+1440G>A 243880951 117780301 pilot_1_CHB+JPT_5766028_chr19_43670122 1.28e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38978282G>A;NG_008866.1:g.58943G>A;NM_000540.2:c.5547+1440G>A;NM_001042723.1:c.5547+1440G>A 283205948 117780301 GMI_AK_SNP_7526369 1.28e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38978305G>A;NG_008866.1:g.58966G>A;NM_000540.2:c.5547+1463G>A;NM_001042723.1:c.5547+1463G>A 203750916 113238163 BUSHMAN-chr19-43670144 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 HGSV 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 85770647 59200109 Cor19129_SNV_20070510.chr19_43670226 1.90e-01 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 117702545 59200109 NA18507_000043865_NCBI36.1_chr19_43670226 1.90e-01 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 155887763 59200109 GMI_SNP_201284600 1.90e-01 2009.06.24 2009.06.24 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 169707201 59200109 NA19240_36_chr19_43670226 1.90e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 203750917 59200109 BUSHMAN-chr19-43670225 1.90e-01 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 208527853 59200109 BCM_CMT_1011-3133959 1.90e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 228135707 59200109 pilot_1_YRI_9945390_chr19_43670226 1.90e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 237674159 59200109 pilot_1_CEU_7278788_chr19_43670226 1.90e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 BL 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 255668447 59200109 SNP49635_19_43670226 1.90e-01 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38978386G>A;NG_008866.1:g.59047G>A;NM_000540.2:c.5548-1431G>A;NM_001042723.1:c.5548-1431G>A 283205949 59200109 GMI_AK_SNP_7526370 1.90e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 111365548 73030958 CEU.trio.12.15.2008_3616630_chr19_43670281 9.43e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 203750918 73030958 BUSHMAN-chr19-43670280 9.43e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 208426983 73030958 BCM_CMT_1011-3099873 9.43e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 228135708 73030958 pilot_1_YRI_9945391_chr19_43670281 9.43e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 237674160 73030958 pilot_1_CEU_7278789_chr19_43670281 9.43e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38978441G>A;NG_008866.1:g.59102G>A;NM_000540.2:c.5548-1376G>A;NM_001042723.1:c.5548-1376G>A 283205950 73030958 GMI_AK_SNP_7526371 9.43e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38978466G>A;NG_008866.1:g.59127G>A;NM_000540.2:c.5548-1351G>A;NM_001042723.1:c.5548-1351G>A 10922684 7248175 chr19.NT_011109.15_11246684 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978471G>A;NG_008866.1:g.59132G>A;NM_000540.2:c.5548-1346G>A;NM_001042723.1:c.5548-1346G>A 340454542 143874118 20100804_snps_12098083_chr19_38978471 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.38978580T>G;NG_008866.1:g.59241T>G;NM_000540.2:c.5548-1237T>G;NM_001042723.1:c.5548-1237T>G 41035333 35487428 hCV26218826 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.38978580T>G;NG_008866.1:g.59241T>G;NM_000540.2:c.5548-1237T>G;NM_001042723.1:c.5548-1237T>G 132762425 35487428 ENSSNP1527902 2009.05.12 2009.10.15 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38978717G>A;NG_008866.1:g.59378G>A;NM_000540.2:c.5548-1100G>A;NM_001042723.1:c.5548-1100G>A 465586777 181243471 20101123_snps_11754007_chr19_38978717 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38978718A>G;NG_008866.1:g.59379A>G;NM_000540.2:c.5548-1099A>G;NM_001042723.1:c.5548-1099A>G 111365556 73030961 CEU.trio.12.15.2008_3616631_chr19_43670558 6.40e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38978718A>G;NG_008866.1:g.59379A>G;NM_000540.2:c.5548-1099A>G;NM_001042723.1:c.5548-1099A>G 208483239 73030961 BCM_CMT_1011-3118503 6.40e-03 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978718A>G;NG_008866.1:g.59379A>G;NM_000540.2:c.5548-1099A>G;NM_001042723.1:c.5548-1099A>G 340454543 73030961 20100804_snps_12098084_chr19_38978718 6.40e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978748C>A;NG_008866.1:g.59409C>A;NM_000540.2:c.5548-1069C>A;NM_001042723.1:c.5548-1069C>A 465586778 186441649 20101123_snps_11754008_chr19_38978748 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38978816G>A;NG_008866.1:g.59477G>A;NM_000540.2:c.5548-1001G>A;NM_001042723.1:c.5548-1001G>A 211962593 115959884 YRI.trio.3.2010_1440234_chr19_43670656 5.50e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38978816G>A;NG_008866.1:g.59477G>A;NM_000540.2:c.5548-1001G>A;NM_001042723.1:c.5548-1001G>A 340454544 115959884 20100804_snps_12098085_chr19_38978816 5.50e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979000A>C;NG_008866.1:g.59661A>C;NM_000540.2:c.5548-817A>C;NM_001042723.1:c.5548-817A>C 340454545 141479362 20100804_snps_12098086_chr19_38979000 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979038C>T;NG_008866.1:g.59699C>T;NM_000540.2:c.5548-779C>T;NM_001042723.1:c.5548-779C>T 465586779 189747750 20101123_snps_11754009_chr19_38979038 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38979130A>G;NG_008866.1:g.59791A>G;NM_000540.2:c.5548-687A>G;NM_001042723.1:c.5548-687A>G 340454546 150842101 20100804_snps_12098087_chr19_38979130 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 10929681 7252028 chr19.NT_011109.15_11247392 1.95e-01 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 40997163 7252028 hCV7821729 1.95e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 78857685 7252028 Cor18507_SNV_20070510.chr19_43671014 1.95e-01 2007.10.21 2007.10.21 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 96305665 7252028 1103691141803 1.95e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 111365566 7252028 CEU.trio.12.15.2008_3616632_chr19_43671014 1.95e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 115120397 7252028 NA19240_2008_12_16_3257589_chr19_43671014 1.95e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 117702547 7252028 NA18507_000043866_NCBI36.1_chr19_43671014 1.95e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 144259150 7252028 ENSSNP4532322 1.95e-01 2009.06.06 2009.10.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 155887775 7252028 GMI_SNP_74192599 1.95e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 169707215 7252028 NA19240_36_chr19_43671014 1.95e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 203750919 7252028 BUSHMAN-chr19-43671013 1.95e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 208498892 7252028 BCM_CMT_1011-3123898 1.95e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 228135709 7252028 pilot_1_YRI_9945392_chr19_43671014 1.95e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 237674161 7252028 pilot_1_CEU_7278790_chr19_43671014 1.95e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 243880952 7252028 pilot_1_CHB+JPT_5766029_chr19_43671014 1.95e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 255668452 7252028 SNP49636_19_43671014 1.95e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 283205951 7252028 GMI_AK_SNP_7526372 1.95e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38979174G>C;NG_008866.1:g.59835G>C;NM_000540.2:c.5548-643G>C;NM_001042723.1:c.5548-643G>C 292248486 7252028 SNP_1754844_chr19_43671014 1.95e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 10931099 7252837 chr19.NT_011109.15_11247456 5.49e-02 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 155887784 7252837 GMI_SNP_201473180 5.49e-02 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 203750920 7252837 BUSHMAN-chr19-43671077 5.49e-02 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 208532050 7252837 BCM_CMT_1011-3135345 5.49e-02 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 283205952 7252837 GMI_AK_SNP_7526373 5.49e-02 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979238T>C;NG_008866.1:g.59899T>C;NM_000540.2:c.5548-579T>C;NM_001042723.1:c.5548-579T>C 340454547 7252837 20100804_snps_12098088_chr19_38979238 5.49e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979309T>A;NG_008866.1:g.59970T>A;NM_000540.2:c.5548-508T>A;NM_001042723.1:c.5548-508T>A 465586780 182316137 20101123_snps_11754010_chr19_38979309 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38979333C>T;NG_008866.1:g.59994C>T;NM_000540.2:c.5548-484C>T;NM_001042723.1:c.5548-484C>T 203750921 113777190 BUSHMAN-chr19-43671172 8.20e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979333C>T;NG_008866.1:g.59994C>T;NM_000540.2:c.5548-484C>T;NM_001042723.1:c.5548-484C>T 340454548 113777190 20100804_snps_12098089_chr19_38979333 8.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 10931562 7253112 chr19.NT_011109.15_11247605 1.94e-01 2003.06.30 2003.10.10 2003.07.11 2011.09.09 137 ABI 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 40991793 7253112 hCV7821728 1.94e-01 2005.07.17 2005.07.17 2003.07.11 2011.09.09 137 HGSV 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 80012879 7253112 Cor18507_SNV_20070510.chr19_43671227 1.94e-01 2007.11.24 2007.11.24 2003.07.11 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 96305666 7253112 1103691141804 1.94e-01 2008.03.26 2008.03.26 2003.07.11 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 143415667 7253112 ENSSNP5198295 1.94e-01 2009.06.06 2009.10.17 2003.07.11 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 169707232 7253112 NA19240_36_chr19_43671227 1.94e-01 2009.10.01 2009.10.01 2003.07.11 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 203750922 7253112 BUSHMAN-chr19-43671226 1.94e-01 2010.03.09 2010.03.09 2003.07.11 2011.09.09 137 BL 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 255668457 7253112 SNP49637_19_43671227 1.94e-01 2010.08.20 2010.08.20 2003.07.11 2011.09.09 137 PJP 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 292248487 7253112 SNP_1754845_chr19_43671227 1.94e-01 2011.01.21 2011.01.21 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979387T>C;NG_008866.1:g.60048T>C;NM_000540.2:c.5548-430T>C;NM_001042723.1:c.5548-430T>C 340454549 7253112 20100804_snps_12098090_chr19_38979387 1.94e-01 2011.03.22 2011.03.22 2003.07.11 2011.09.09 137 GMI 6261 NC_000019.9:g.38979461T>G;NG_008866.1:g.60122T>G;NM_000540.2:c.5548-356T>G;NM_001042723.1:c.5548-356T>G 155887792 78002878 GMI_SNP_241282652 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38979461T>G;NG_008866.1:g.60122T>G;NM_000540.2:c.5548-356T>G;NM_001042723.1:c.5548-356T>G 283205953 78002878 GMI_AK_SNP_7526374 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979461T>G;NG_008866.1:g.60122T>G;NM_000540.2:c.5548-356T>G;NM_001042723.1:c.5548-356T>G 340454550 78002878 20100804_snps_12098091_chr19_38979461 1.05e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979490T>C;NG_008866.1:g.60151T>C;NM_000540.2:c.5548-327T>C;NM_001042723.1:c.5548-327T>C 465586781 187732018 20101123_snps_11754011_chr19_38979490 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 44173391 34370689 hCV7821721 8.88e-02 2005.07.18 2006.11.03 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 96305667 34370689 1103691141805 8.88e-02 2008.03.26 2008.03.26 2006.03.14 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 139999620 34370689 ENSSNP3749987 8.88e-02 2009.05.19 2009.10.16 2006.03.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 228135710 34370689 pilot_1_YRI_9945393_chr19_43671396 8.88e-02 2010.04.22 2010.04.22 2006.03.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 237674162 34370689 pilot_1_CEU_7278791_chr19_43671396 8.88e-02 2010.05.01 2010.05.01 2006.03.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 243880953 34370689 pilot_1_CHB+JPT_5766030_chr19_43671396 8.88e-02 2010.05.01 2010.05.01 2006.03.14 2011.09.09 137 BL 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 255668461 34370689 SNP49638_19_43671396 8.88e-02 2010.08.20 2010.08.20 2006.03.14 2011.09.09 137 PJP 6261 NC_000019.9:g.38979556A>T;NG_008866.1:g.60217A>T;NM_000540.2:c.5548-261A>T;NM_001042723.1:c.5548-261A>T 292248488 34370689 SNP_1754846_chr19_43671396 8.88e-02 2011.01.21 2011.01.21 2006.03.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38979559C>T;NG_008866.1:g.60220C>T;NM_000540.2:c.5548-258C>T;NM_001042723.1:c.5548-258C>T 465586782 191016908 20101123_snps_11754012_chr19_38979559 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979559C>T;NG_008866.1:g.60220C>T;NM_000540.2:c.5548-258C>T;NM_001042723.1:c.5548-258C>T 482346809 191016908 HumanOmni2.5-4v1_D_kgp21501934-0_T_R_1844356148 2.70e-03 2012.02.01 2012.02.01 2011.09.17 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979559C>T;NG_008866.1:g.60220C>T;NM_000540.2:c.5548-258C>T;NM_001042723.1:c.5548-258C>T 483825942 191016908 HumanOmni2.5-4v1_B_SNP19-43671399-0_T_R_1637713779 2.70e-03 2012.02.03 2012.02.03 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 211962595 74778515 YRI.trio.3.2010_1440235_chr19_43671581 7.23e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 228135712 74778515 pilot_1_YRI_9945395_chr19_43671581 7.23e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 237674163 74778515 pilot_1_CEU_7278792_chr19_43671581 7.23e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 243880954 74778515 pilot_1_CHB+JPT_5766031_chr19_43671581 7.23e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 255668466 74778515 SNP49639_19_43671581 7.23e-02 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 483109985 74778515 HumanOmni2.5-4v1_D_kgp3105622-0_T_F_1816022490 7.23e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979741G>A;NG_008866.1:g.60402G>A;NM_000540.2:c.5548-76G>A;NM_001042723.1:c.5548-76G>A 483825944 74778515 HumanOmni2.5-4v1_B_SNP19-43671581-0_T_F_1622652523 7.23e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979746G>A;NG_008866.1:g.60407G>A;NM_000540.2:c.5548-71G>A;NM_001042723.1:c.5548-71G>A 228135713 116411695 pilot_1_YRI_9945396_chr19_43671586 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38979800G>A;NG_008866.1:g.60461G>A;NM_000540.2:c.5548-17G>A;NM_001042723.1:c.5548-17G>A 491766175 201386811 SNV-chr19-43671640 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979813G>A;NG_008866.1:g.60474G>A;NM_000540.2:c.5548-4G>A;NM_001042723.1:c.5548-4G>A 489164450 199718233 20110521_exome_255617_chr19_38979813 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CORNELL 6261 NC_000019.9:g.38979834C>T;NG_008866.1:g.60495C>T;NM_000540.2:c.5565C>T;NM_001042723.1:c.5565C>T;NP_000531.2:p.Gly1855=;NP_001036188.1:p.Gly1855= 86257788 61750975 hCV25921534 4.60e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979834C>T;NG_008866.1:g.60495C>T;NM_000540.2:c.5565C>T;NM_001042723.1:c.5565C>T;NP_000531.2:p.Gly1855=;NP_001036188.1:p.Gly1855= 340454551 61750975 20100804_snps_12098092_chr19_38979834 4.60e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38979834C>T;NG_008866.1:g.60495C>T;NM_000540.2:c.5565C>T;NM_001042723.1:c.5565C>T;NP_000531.2:p.Gly1855=;NP_001036188.1:p.Gly1855= 342496490 61750975 ESP2500-chr19-38979834 4.60e-03 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979834C>T;NG_008866.1:g.60495C>T;NM_000540.2:c.5565C>T;NM_001042723.1:c.5565C>T;NP_000531.2:p.Gly1855=;NP_001036188.1:p.Gly1855= 491157995 61750975 20110521_exome_665793_chr19_38979834 4.60e-03 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38979834C>T;NG_008866.1:g.60495C>T;NM_000540.2:c.5565C>T;NM_001042723.1:c.5565C>T;NP_000531.2:p.Gly1855=;NP_001036188.1:p.Gly1855= 491766176 61750975 SNV-chr19-43671674 4.60e-03 2012.03.07 2012.03.13 2008.03.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.5619G>A NC_000019.9:g.38979888G>A;NG_008866.1:g.60549G>A;NM_000540.2:c.5619G>A;NM_001042723.1:c.5619G>A;NP_000531.2:p.Glu1873=;NP_001036188.1:p.Glu1873= 475871515 193922785 RYR1_00242 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ABI 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 40986497 35021937 hCV26218827 1.65e-02 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 96305668 35021937 1103691141806 1.65e-02 2008.03.26 2008.03.26 2006.03.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 143645378 35021937 ENSSNP4229569 1.65e-02 2009.06.06 2009.10.19 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 228135714 35021937 pilot_1_YRI_9945397_chr19_43671731 1.65e-02 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 237674164 35021937 pilot_1_CEU_7278793_chr19_43671731 1.65e-02 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 PJP 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 292248489 35021937 SNP_1754847_chr19_43671731 1.65e-02 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 342496491 35021937 ESP2500-chr19-38979891 1.65e-02 2011.03.27 2011.03.27 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 479750170 35021937 HumanOmni2.5-4v1_D_kgp1160831-0_T_F_1816311421 1.65e-02 2012.01.30 2012.01.30 2006.03.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 483825946 35021937 HumanOmni2.5-4v1_B_SNP19-43671731-0_T_F_1637574440 1.65e-02 2012.02.03 2012.02.03 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 491157996 35021937 20110521_exome_665794_chr19_38979891 1.65e-02 2012.02.22 2012.02.22 2006.03.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38979891A>G;NG_008866.1:g.60552A>G;NM_000540.2:c.5622A>G;NM_001042723.1:c.5622A>G;NP_000531.2:p.Glu1874=;NP_001036188.1:p.Glu1874= 491546461 35021937 synctl_262687_chr_19_38979891 1.65e-02 2012.03.06 2012.03.06 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979903G>C;NG_008866.1:g.60564G>C;NM_000540.2:c.5634G>C;NM_001042723.1:c.5634G>C;NP_000531.2:p.Glu1878Asp;NP_001036188.1:p.Glu1878Asp 228135715 114203198 pilot_1_YRI_9945398_chr19_43671743 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38979903G>C;NG_008866.1:g.60564G>C;NM_000540.2:c.5634G>C;NM_001042723.1:c.5634G>C;NP_000531.2:p.Glu1878Asp;NP_001036188.1:p.Glu1878Asp 342496492 114203198 ESP2500-chr19-38979903 4.10e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38979903G>C;NG_008866.1:g.60564G>C;NM_000540.2:c.5634G>C;NM_001042723.1:c.5634G>C;NP_000531.2:p.Glu1878Asp;NP_001036188.1:p.Glu1878Asp 491157997 114203198 20110521_exome_665795_chr19_38979903 4.10e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38979903G>C;NG_008866.1:g.60564G>C;NM_000540.2:c.5634G>C;NM_001042723.1:c.5634G>C;NP_000531.2:p.Glu1878Asp;NP_001036188.1:p.Glu1878Asp 491546462 114203198 nonsyn_262688_chr_19_38979903 4.10e-03 2012.03.06 2012.03.06 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38979906C>T;NG_008866.1:g.60567C>T;NM_000540.2:c.5637C>T;NM_001042723.1:c.5637C>T;NP_000531.2:p.Asp1879=;NP_001036188.1:p.Asp1879= 342496493 143418190 ESP2500-chr19-38979906 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38979909G>A;NG_008866.1:g.60570G>A;NM_000540.2:c.5640G>A;NM_001042723.1:c.5640G>A;NP_000531.2:p.Glu1880=;NP_001036188.1:p.Glu1880= 342496494 146875363 ESP2500-chr19-38979909 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38980019A>G;NG_008866.1:g.60680A>G;NM_000540.2:c.5750A>G;NM_001042723.1:c.5750A>G;NP_000531.2:p.Glu1917Gly;NP_001036188.1:p.Glu1917Gly 489164452 201623919 20110521_exome_255618_chr19_38980019 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38980042G>A;NG_008866.1:g.60703G>A;NM_000540.2:c.5773G>A;NM_001042723.1:c.5773G>A;NP_000531.2:p.Gly1925Arg;NP_001036188.1:p.Gly1925Arg 342496495 140696033 ESP2500-chr19-38980042 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38980066G>T;NG_008866.1:g.60727G>T;NM_000540.2:c.5797G>T;NM_001042723.1:c.5797G>T;NP_000531.2:p.Glu1933Ter;NP_001036188.1:p.Glu1933Ter 465586783 183999225 20101123_snps_11754013_chr19_38980066 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 23763127 16972654 afd3509140 1.02e-01 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 66466958 16972654 SNP_A-2258454 1.02e-01 2006.10.29 2008.03.31 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 76270712 16972654 AFFY_6_1M_SNP_A-2258454 1.02e-01 2007.08.30 2007.08.30 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 83131460 16972654 KHS401442 1.02e-01 2007.12.04 2007.12.04 2004.09.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 117702549 16972654 NA18507_000043867_NCBI36.1_chr19_43671958 1.02e-01 2009.01.20 2009.01.20 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 155887798 16972654 GMI_SNP_40754234 1.02e-01 2009.06.24 2009.06.24 2004.09.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 173055952 16972654 GenomeWideSNP_5_SNP_A-2258454 1.02e-01 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 211962597 16972654 YRI.trio.3.2010_1440236_chr19_43671958 1.02e-01 2010.03.31 2010.03.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 228135716 16972654 pilot_1_YRI_9945399_chr19_43671958 1.02e-01 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 237674165 16972654 pilot_1_CEU_7278794_chr19_43671958 1.02e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 243880955 16972654 pilot_1_CHB+JPT_5766032_chr19_43671958 1.02e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 BL 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 255668472 16972654 SNP49640_19_43671958 1.02e-01 2010.08.20 2010.08.20 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 283205954 16972654 GMI_AK_SNP_7526375 1.02e-01 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 491157998 16972654 20110521_exome_665796_chr19_38980118 1.02e-01 2012.02.22 2012.02.22 2004.09.20 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38980118C>G;NG_008866.1:g.60779C>G;NM_000540.2:c.5814+35C>G;NM_001042723.1:c.5814+35C>G 491766177 16972654 SNV-chr19-43671958 1.02e-01 2012.03.07 2012.03.13 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980250A>T;NG_008866.1:g.60911A>T;NM_000540.2:c.5814+167A>T;NM_001042723.1:c.5814+167A>T 228135717 75230877 pilot_1_YRI_9945400_chr19_43672090 5.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38980314G>T;NG_008866.1:g.60975G>T;NM_000540.2:c.5814+231G>T;NM_001042723.1:c.5814+231G>T 90969892 62118996 JWB-2965862 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38980337C>T;NG_008866.1:g.60998C>T;NM_000540.2:c.5814+254C>T;NM_001042723.1:c.5814+254C>T 340454552 145450505 20100804_snps_12098093_chr19_38980337 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38980354C>T;NG_008866.1:g.61015C>T;NM_000540.2:c.5814+271C>T;NM_001042723.1:c.5814+271C>T 465586784 188586940 20101123_snps_11754014_chr19_38980354 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38980361C>T;NG_008866.1:g.61022C>T;NM_000540.2:c.5814+278C>T;NM_001042723.1:c.5814+278C>T 283205955 200992490 GMI_AK_SNP_7526376 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38980362G>A;NG_008866.1:g.61023G>A;NM_000540.2:c.5814+279G>A;NM_001042723.1:c.5814+279G>A 340454553 148816924 20100804_snps_12098094_chr19_38980362 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38980378C>T;NG_008866.1:g.61039C>T;NM_000540.2:c.5814+295C>T;NM_001042723.1:c.5814+295C>T 340454554 142572821 20100804_snps_12098095_chr19_38980378 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 17625792 11882920 CSHL-HuCC-200402.chr19.NT_011109.15_11248707 2.08e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 40990019 11882920 hCV7821719 2.08e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 85114534 11882920 Cor19240_SNV_20070510.chr19_43672329 2.08e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 85906941 11882920 Cor19129_SNV_20070510.chr19_43672329 2.08e-01 2007.12.10 2007.12.10 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 96305669 11882920 1103691141808 2.08e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 136267545 11882920 ENSSNP1527903 2.08e-01 2009.05.15 2009.10.15 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 155887804 11882920 GMI_SNP_241155409 2.08e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 169707247 11882920 NA19240_36_chr19_43672329 2.08e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 203750923 11882920 BUSHMAN-chr19-43672328 2.08e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 255668476 11882920 SNP49641_19_43672329 2.08e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 283205956 11882920 GMI_AK_SNP_7526377 2.08e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 292248490 11882920 SNP_1754848_chr19_43672329 2.08e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980489T>C;NG_008866.1:g.61150T>C;NM_000540.2:c.5815-227T>C;NM_001042723.1:c.5815-227T>C 340454555 11882920 20100804_snps_12098096_chr19_38980489 2.08e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 17617747 11880126 CSHL-HuCC-200402.chr19.NT_011109.15_11248811 8.88e-02 2004.02.19 2006.10.26 2004.02.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 23763129 11880126 afd3509141 8.88e-02 2004.08.20 2004.09.13 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 44183751 11880126 hCV7821712 8.88e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 75103046 11880126 ILMN_Human_1M_rs11880126 8.88e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 96305670 11880126 1103691141807 8.88e-02 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 111365583 11880126 CEU.trio.12.15.2008_3616634_chr19_43672433 8.88e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 119725862 11880126 KHS1822655 8.88e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 136267542 11880126 ENSSNP1527904 8.88e-02 2009.05.15 2010.03.07 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 160013433 11880126 HumanOmni1-Quad_v1-0_B_rs11880126-128_B_R_1514063199 8.88e-02 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 169707263 11880126 NA19240_36_chr19_43672433 8.88e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 171676368 11880126 Human1M-Duov3_B_rs11880126-128_B_R_1514063199 8.88e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 203750924 11880126 BUSHMAN-chr19-43672432 8.88e-02 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 208471706 11880126 BCM_CMT_1011-3114770 8.88e-02 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 211962599 11880126 YRI.trio.3.2010_1440237_chr19_43672433 8.88e-02 2010.03.31 2010.03.31 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 228135718 11880126 pilot_1_YRI_9945401_chr19_43672433 8.88e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 237674166 11880126 pilot_1_CEU_7278795_chr19_43672433 8.88e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 292248491 11880126 SNP_1754849_chr19_43672433 8.88e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 479618257 11880126 HumanOmni2.5-4v1_B_rs11880126-128_B_R_1782893963 8.88e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 479623457 11880126 HumanOmniExpress-12v1_C_rs11880126-131_B_R_1857346817 8.88e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 480119446 11880126 HumanOmni1-Quad_v1-0_C_rs11880126-131_B_R_1865315299 8.88e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38980593G>A;NG_008866.1:g.61254G>A;NM_000540.2:c.5815-123G>A;NM_001042723.1:c.5815-123G>A 484607913 11880126 HumanOmni2.5-4v1_D_rs11880126-131_B_R_1857346817 8.88e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38980666C>T;NG_008866.1:g.61327C>T;NM_000540.2:c.5815-50C>T;NM_001042723.1:c.5815-50C>T 171754311 111928389 NA20431_36_chr19_43672506 1.60e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38980666C>T;NG_008866.1:g.61327C>T;NM_000540.2:c.5815-50C>T;NM_001042723.1:c.5815-50C>T 208436388 111928389 BCM_CMT_1011-3102979 1.60e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980666C>T;NG_008866.1:g.61327C>T;NM_000540.2:c.5815-50C>T;NM_001042723.1:c.5815-50C>T 237674167 111928389 pilot_1_CEU_7278796_chr19_43672506 1.60e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980666C>T;NG_008866.1:g.61327C>T;NM_000540.2:c.5815-50C>T;NM_001042723.1:c.5815-50C>T 491157999 111928389 20110521_exome_665797_chr19_38980666 1.60e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38980666C>T;NG_008866.1:g.61327C>T;NM_000540.2:c.5815-50C>T;NM_001042723.1:c.5815-50C>T 491766178 111928389 SNV-chr19-43672506 1.60e-02 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980770T>A;NG_008866.1:g.61431T>A;NM_000540.2:c.5869T>A;NM_001042723.1:c.5869T>A;NP_000531.2:p.Ser1957Thr;NP_001036188.1:p.Ser1957Thr 465586785 192932788 20101123_snps_11754015_chr19_38980770 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38980770T>A;NG_008866.1:g.61431T>A;NM_000540.2:c.5869T>A;NM_001042723.1:c.5869T>A;NP_000531.2:p.Ser1957Thr;NP_001036188.1:p.Ser1957Thr 491158000 192932788 20110521_exome_665798_chr19_38980770 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38980791C>T;NG_008866.1:g.61452C>T;NM_000540.2:c.5890C>T;NM_001042723.1:c.5890C>T;NP_000531.2:p.Arg1964Cys;NP_001036188.1:p.Arg1964Cys 342496496 145801146 ESP2500-chr19-38980791 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38980805G>A;NG_008866.1:g.61466G>A;NM_000540.2:c.5904G>A;NM_001042723.1:c.5904G>A;NP_000531.2:p.Lys1968=;NP_001036188.1:p.Lys1968= 342496497 138391613 ESP2500-chr19-38980805 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38980826C>A;NG_008866.1:g.61487C>A;NM_000540.2:c.5925C>A;NM_001042723.1:c.5925C>A;NP_000531.2:p.Ser1975Arg;NP_001036188.1:p.Ser1975Arg 342496498 141689968 ESP2500-chr19-38980826 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.5938delC NC_000019.9:g.38980839delC;NG_008866.1:g.61500delC;NM_000540.2:c.5938delC;NM_001042723.1:c.5938delC;NP_000531.2:p.Leu1980Serfs;NP_001036188.1:p.Leu1980Serfs 475871516 193922786 RYR1_00322 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.5988C>T NC_000019.9:g.38980889C>T;NG_008866.1:g.61550C>T;NM_000540.2:c.5988C>T;NM_001042723.1:c.5988C>T;NP_000531.2:p.Arg1996=;NP_001036188.1:p.Arg1996= 475871517 193922787 RYR1_00274 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 PERLEGEN 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 24683491 17708009 afd3509142 5.17e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 69228167 17708009 PGP03509142 5.17e-02 2007.01.30 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 75109262 17708009 ILMN_Human_1M_rs17708009 5.17e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 119892841 17708009 KHS1903463 5.17e-02 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 160454068 17708009 HumanOmni1-Quad_v1-0_B_rs17708009-128_T_R_1514076050 5.17e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 172881016 17708009 Human1M-Duov3_B_rs17708009-128_T_R_1514076050 5.17e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 228135719 17708009 pilot_1_YRI_9945402_chr19_43672843 5.17e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 237674168 17708009 pilot_1_CEU_7278797_chr19_43672843 5.17e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 480273505 17708009 HumanOmni2.5-4v1_B_rs17708009-128_T_R_1782941060 5.17e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 480284691 17708009 HumanOmniExpress-12v1_C_rs17708009-131_T_R_1856991896 5.17e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 481032139 17708009 HumanOmni1-Quad_v1-0_C_rs17708009-131_T_R_1865509819 5.17e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981003C>T;NG_008866.1:g.61664C>T;NM_000540.2:c.6015+87C>T;NM_001042723.1:c.6015+87C>T 484934702 17708009 HumanOmni2.5-4v1_D_rs17708009-131_T_R_1856991896 5.17e-02 2012.02.04 2012.02.04 2004.09.20 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38981268T>C;NG_008866.1:g.61929T>C;NM_000540.2:c.6023T>C;NM_001042723.1:c.6023T>C;NP_000531.2:p.Met2008Thr;NP_001036188.1:p.Met2008Thr 491546463 199947661 nonsyn_262689_chr_19_38981268 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 WIAF-CSNP 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 3172703 2228068 WIAF-12760 5.17e-02 unknown untested 2001.06.19 2004.04.07 2001.08.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 24683494 2228068 afd3509143 5.17e-02 unknown untested 2004.08.21 2004.09.13 2001.08.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 48401747 2228068 hCV16170480 5.17e-02 germline untested 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 67235484 2228068 HumanHap550v1.1_rs2228068 5.17e-02 germline untested 2006.11.14 2006.11.14 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 67631578 2228068 HumanHap650Yv1.0_rs2228068 5.17e-02 unknown untested 2006.11.14 2006.11.14 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 68199622 2228068 HumanHap250Sv1.0_rs2228068 5.17e-02 germline untested 2006.12.06 2006.12.07 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 70713826 2228068 HumanHap550v3.0__rs2228068 5.17e-02 germline untested 2007.04.20 2008.03.30 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 71281506 2228068 HumanHap650Yv3.0_rs2228068 5.17e-02 germline untested 2007.04.23 2007.04.23 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 75851644 2228068 ILMN_Human_1M_rs2228068 5.17e-02 germline untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 76576085 2228068 AFFY_6_1M_SNP_A-8437195 5.17e-02 germline untested 2007.08.30 2007.08.30 2001.08.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 76889272 2228068 NT_011109.15_11249502 5.17e-02 unknown untested 2007.09.20 2007.09.20 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 84001642 2228068 KHS598139 5.17e-02 unknown untested 2007.12.06 2007.12.06 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 153887889 2228068 Human610_Quadv1_B_rs2228068-128_B_R_1502186630 5.17e-02 unknown untested 2009.06.19 2009.06.20 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 159370000 2228068 Human660W-Quad_v1_A_rs2228068-128_B_R_1502186630 5.17e-02 germline untested 2009.07.07 2009.07.07 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 160517191 2228068 HumanOmni1-Quad_v1-0_B_rs2228068-128_B_R_1502186630 5.17e-02 germline untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 173192207 2228068 Human1M-Duov3_B_rs2228068-128_B_R_1502186630 5.17e-02 germline untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 228135720 2228068 pilot_1_YRI_9945403_chr19_43673124 5.17e-02 germline untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 237674169 2228068 pilot_1_CEU_7278798_chr19_43673124 5.17e-02 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 243880956 2228068 pilot_1_CHB+JPT_5766033_chr19_43673124 5.17e-02 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 255668482 2228068 SNP49642_19_43673124 5.17e-02 unknown untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 342496499 2228068 ESP2500-chr19-38981284 5.17e-02 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6039A>G NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 475871518 2228068 RYR1_00011 5.17e-02 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 480471618 2228068 HumanOmni2.5-4v1_B_rs2228068-128_B_R_1773492698 5.17e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 480485953 2228068 HumanOmniExpress-12v1_C_rs2228068-131_B_R_1857157208 5.17e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 481283049 2228068 HumanOmni1-Quad_v1-0_C_rs2228068-131_B_R_1865370529 5.17e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 485033284 2228068 HumanOmni2.5-4v1_D_rs2228068-131_B_R_1857157208 5.17e-02 unknown untested 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 491158001 2228068 20110521_exome_665799_chr19_38981284 5.17e-02 germline untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38981284A>G;NG_008866.1:g.61945A>G;NM_000540.2:c.6039A>G;NM_001042723.1:c.6039A>G;NP_000531.2:p.Lys2013=;NP_001036188.1:p.Lys2013= 491766179 2228068 SNV-chr19-43673124 5.17e-02 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38981323G>A;NG_008866.1:g.61984G>A;NM_000540.2:c.6078G>A;NM_001042723.1:c.6078G>A;NP_000531.2:p.Glu2026=;NP_001036188.1:p.Glu2026= 491766180 201310026 SNV-chr19-43673163 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981375A>G;NG_008866.1:g.62036A>G;NM_000540.2:c.6127+3A>G;NM_001042723.1:c.6127+3A>G 161063691 78851466 HumanOmni1-Quad_v1-0_B_SNP19-43673215-0_T_F_1588135888 2.70e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38981375A>G;NG_008866.1:g.62036A>G;NM_000540.2:c.6127+3A>G;NM_001042723.1:c.6127+3A>G 283205957 78851466 GMI_AK_SNP_7526378 2.70e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981375A>G;NG_008866.1:g.62036A>G;NM_000540.2:c.6127+3A>G;NM_001042723.1:c.6127+3A>G 340454556 78851466 20100804_snps_12098097_chr19_38981375 2.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981375A>G;NG_008866.1:g.62036A>G;NM_000540.2:c.6127+3A>G;NM_001042723.1:c.6127+3A>G 479354954 78851466 HumanOmni1-Quad_v1-0_C_kgp22854810-0_T_F_1862728660 2.70e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981375A>G;NG_008866.1:g.62036A>G;NM_000540.2:c.6127+3A>G;NM_001042723.1:c.6127+3A>G 491158002 78851466 20110521_exome_665800_chr19_38981375 2.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981471G>A;NG_008866.1:g.62132G>A;NM_000540.2:c.6127+99G>A;NM_001042723.1:c.6127+99G>A 228135721 114488272 pilot_1_YRI_9945404_chr19_43673311 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38981477A>G;NG_008866.1:g.62138A>G;NM_000540.2:c.6127+105A>G;NM_001042723.1:c.6127+105A>G 211962601 115158114 YRI.trio.3.2010_1440238_chr19_43673317 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 17619849 11880894 CSHL-HuCC-200402.chr19.NT_011109.15_11249757 1.95e-01 2004.02.19 2004.05.17 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 21508995 11880894 WGSA-200403-chr19.chr19.NT_011109.15_11249757 1.95e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 44191638 11880894 hCV7821711 1.95e-01 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 65817195 11880894 Human1-rs11880894 1.95e-01 2006.10.10 2006.10.10 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 66604235 11880894 HumanHap300v1.1_rs11880894 1.95e-01 2006.11.09 2006.11.09 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 66964367 11880894 HumanHap550v1.1_rs11880894 1.95e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 67130869 11880894 HumanHap650Yv1.0_rs11880894 1.95e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 69228168 11880894 PGP13103652 1.95e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 70401511 11880894 HumanHap300v2.0_rs11880894 1.95e-01 2007.04.18 2007.11.18 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 70546547 11880894 HumanHap550v3.0__rs11880894 1.95e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 71080300 11880894 HumanHap650Yv3.0_rs11880894 1.95e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 75458216 11880894 ILMN_Human_1M_rs11880894 1.95e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 76645167 11880894 AFFY_6_1M_SNP_A-8506520 1.95e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 85155066 11880894 KHS913517 1.95e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 96305671 11880894 1103691141809 1.95e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 115120414 11880894 NA19240_2008_12_16_3257592_chr19_43673379 1.95e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 117702551 11880894 NA18507_000043868_NCBI36.1_chr19_43673379 1.95e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 121515983 11880894 HumanCNV370v1_C_rs11880894 1.95e-01 2009.04.14 2009.04.14 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 132762429 11880894 ENSSNP1527905 1.95e-01 2009.05.12 2010.03.07 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 153083210 11880894 Human610_Quadv1_B_rs11880894-128_B_F_1501633873 1.95e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 155887812 11880894 GMI_SNP_40696689 1.95e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 159194090 11880894 Human660W-Quad_v1_A_rs11880894-128_B_F_1501633873 1.95e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 169707284 11880894 NA19240_36_chr19_43673379 1.95e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 169986357 11880894 HumanCNV370-Quadv3_C_rs11880894-128_B_F_1501633873 1.95e-01 2009.10.01 2009.10.02 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 171677240 11880894 Human1M-Duov3_B_rs11880894-128_B_F_1501633873 1.95e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 203750925 11880894 BUSHMAN-chr19-43673378 1.95e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 208382454 11880894 BCM_CMT_1011-3085083 1.95e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 210946296 11880894 CEU.trio.3.2010_162538_chr19_43673379 1.95e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 228135722 11880894 pilot_1_YRI_9945405_chr19_43673379 1.95e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 237674170 11880894 pilot_1_CEU_7278799_chr19_43673379 1.95e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 243880957 11880894 pilot_1_CHB+JPT_5766034_chr19_43673379 1.95e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 255668487 11880894 SNP49643_19_43673379 1.95e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 283205958 11880894 GMI_AK_SNP_7526379 1.95e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 292248492 11880894 SNP_1754850_chr19_43673379 1.95e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 483383765 11880894 HumanOmni2.5-4v1_D_kgp4586337-0_T_R_1815991239 1.95e-01 2012.02.02 2012.02.02 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981539C>T;NG_008866.1:g.62200C>T;NM_000540.2:c.6127+167C>T;NM_001042723.1:c.6127+167C>T 483825948 11880894 HumanOmni2.5-4v1_B_SNP19-43673379-0_T_R_1628576101 1.95e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981693G>A;NG_008866.1:g.62354G>A;NM_000540.2:c.6127+321G>A;NM_001042723.1:c.6127+321G>A 340454557 147085167 20100804_snps_12098098_chr19_38981693 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38981712T>C;NG_008866.1:g.62373T>C;NM_000540.2:c.6127+340T>C;NM_001042723.1:c.6127+340T>C 228135723 115592936 pilot_1_YRI_9945406_chr19_43673552 3.89e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38981750G>T;NG_008866.1:g.62411G>T;NM_000540.2:c.6127+378G>T;NM_001042723.1:c.6127+378G>T 228135724 114346724 pilot_1_YRI_9945407_chr19_43673590 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981758C>T;NG_008866.1:g.62419C>T;NM_000540.2:c.6127+386C>T;NM_001042723.1:c.6127+386C>T 228135725 74852099 pilot_1_YRI_9945408_chr19_43673598 5.17e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38981758C>T;NG_008866.1:g.62419C>T;NM_000540.2:c.6127+386C>T;NM_001042723.1:c.6127+386C>T 237674171 74852099 pilot_1_CEU_7278800_chr19_43673598 5.17e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 6261 NC_000019.9:g.38981758C>T;NG_008866.1:g.62419C>T;NM_000540.2:c.6127+386C>T;NM_001042723.1:c.6127+386C>T 255668494 74852099 SNP49644_19_43673598 5.17e-02 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38981778C>T;NG_008866.1:g.62439C>T;NM_000540.2:c.6127+406C>T;NM_001042723.1:c.6127+406C>T 340454558 138577870 20100804_snps_12098099_chr19_38981778 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 17625491 11882818 CSHL-HuCC-200402.chr19.NT_011109.15_11250001 1.95e-01 2004.02.19 2008.03.31 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 41011469 11882818 hCV7821710 1.95e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 65795251 11882818 Human1-rs11882818 1.95e-01 2006.10.10 2006.10.10 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 74983645 11882818 ILMN_Human_1M_rs11882818 1.95e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 96305672 11882818 1103691141810 1.95e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 111365591 11882818 CEU.trio.12.15.2008_3616635_chr19_43673623 1.95e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 115120424 11882818 NA19240_2008_12_16_3257593_chr19_43673623 1.95e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 117702553 11882818 NA18507_000043869_NCBI36.1_chr19_43673623 1.95e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 119726316 11882818 KHS1822816 1.95e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 136267539 11882818 ENSSNP1527906 1.95e-01 2009.05.15 2010.03.07 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 155887817 11882818 GMI_SNP_74323302 1.95e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 160013718 11882818 HumanOmni1-Quad_v1-0_B_rs11882818-128_T_F_1513958123 1.95e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 169707305 11882818 NA19240_36_chr19_43673623 1.95e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 171679371 11882818 Human1M-Duov3_B_rs11882818-128_T_F_1513958123 1.95e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 203750926 11882818 BUSHMAN-chr19-43673622 1.95e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 208433986 11882818 BCM_CMT_1011-3102194 1.95e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 228135726 11882818 pilot_1_YRI_9945409_chr19_43673623 1.95e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 237674172 11882818 pilot_1_CEU_7278801_chr19_43673623 1.95e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 243880958 11882818 pilot_1_CHB+JPT_5766035_chr19_43673623 1.95e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 283205959 11882818 GMI_AK_SNP_7526380 1.95e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 292248493 11882818 SNP_1754851_chr19_43673623 1.95e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 479618927 11882818 HumanOmni2.5-4v1_B_rs11882818-128_T_F_1767817552 1.95e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 479624145 11882818 HumanOmniExpress-12v1_C_rs11882818-131_T_F_1857347028 1.95e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 480120566 11882818 HumanOmni1-Quad_v1-0_C_rs11882818-131_T_F_1865567303 1.95e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38981783G>A;NG_008866.1:g.62444G>A;NM_000540.2:c.6127+411G>A;NM_001042723.1:c.6127+411G>A 484608235 11882818 HumanOmni2.5-4v1_D_rs11882818-131_T_F_1857347028 1.95e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981797A>G;NG_008866.1:g.62458A>G;NM_000540.2:c.6127+425A>G;NM_001042723.1:c.6127+425A>G 111365600 73030966 CEU.trio.12.15.2008_3616636_chr19_43673637 1.47e-02 2008.12.17 2008.12.17 2009.02.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38981797A>G;NG_008866.1:g.62458A>G;NM_000540.2:c.6127+425A>G;NM_001042723.1:c.6127+425A>G 203750927 73030966 BUSHMAN-chr19-43673636 1.47e-02 2010.03.09 2010.03.09 2009.02.14 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38981797A>G;NG_008866.1:g.62458A>G;NM_000540.2:c.6127+425A>G;NM_001042723.1:c.6127+425A>G 208444426 73030966 BCM_CMT_1011-3105626 1.47e-02 2010.03.19 2010.03.19 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38981797A>G;NG_008866.1:g.62458A>G;NM_000540.2:c.6127+425A>G;NM_001042723.1:c.6127+425A>G 228135727 73030966 pilot_1_YRI_9945410_chr19_43673637 1.47e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38981797A>G;NG_008866.1:g.62458A>G;NM_000540.2:c.6127+425A>G;NM_001042723.1:c.6127+425A>G 237674173 73030966 pilot_1_CEU_7278802_chr19_43673637 1.47e-02 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38981887T>G;NG_008866.1:g.62548T>G;NM_000540.2:c.6127+515T>G;NM_001042723.1:c.6127+515T>G 117702555 73930591 NA18507_000043870_NCBI36.1_chr19_43673727 1.97e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981887T>G;NG_008866.1:g.62548T>G;NM_000540.2:c.6127+515T>G;NM_001042723.1:c.6127+515T>G 228135728 73930591 pilot_1_YRI_9945411_chr19_43673727 1.97e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981955T>C;NG_008866.1:g.62616T>C;NM_000540.2:c.6127+583T>C;NM_001042723.1:c.6127+583T>C 465586786 184779051 20101123_snps_11754016_chr19_38981955 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38981961delT;NG_008866.1:g.62622delT;NM_000540.2:c.6127+589delT;NM_001042723.1:c.6127+589delT 328276234 147074587 YRI_chr19_43673800_indel 6.40e-03 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981961delT;NG_008866.1:g.62622delT;NM_000540.2:c.6127+589delT;NM_001042723.1:c.6127+589delT 499576301 147074587 20110316_indels_chr19_38981960_38981960 6.40e-03 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38981976C>T;NG_008866.1:g.62637C>T;NM_000540.2:c.6127+604C>T;NM_001042723.1:c.6127+604C>T 340454559 142614245 20100804_snps_12098100_chr19_38981976 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 17625469 11882813 CSHL-HuCC-200402.chr19.NT_011109.15_11250277 2.11e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 41042605 11882813 hCV7821706 2.11e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 82638603 11882813 Cor19240_SNV_20070510.chr19_43673899 2.11e-01 2007.12.03 2007.12.03 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 96305673 11882813 1103691141811 2.11e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 111365608 11882813 CEU.trio.12.15.2008_3616637_chr19_43673899 2.11e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 115120433 11882813 NA19240_2008_12_16_3257594_chr19_43673899 2.11e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 117702557 11882813 NA18507_000043871_NCBI36.1_chr19_43673899 2.11e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 136267537 11882813 ENSSNP1527907 2.11e-01 2009.05.15 2010.03.07 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 169707327 11882813 NA19240_36_chr19_43673899 2.11e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 203750928 11882813 BUSHMAN-chr19-43673898 2.11e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 208468787 11882813 BCM_CMT_1011-3113799 2.11e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 228135729 11882813 pilot_1_YRI_9945412_chr19_43673899 2.11e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 237674174 11882813 pilot_1_CEU_7278803_chr19_43673899 2.11e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 243880959 11882813 pilot_1_CHB+JPT_5766036_chr19_43673899 2.11e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 255668497 11882813 SNP49645_19_43673899 2.11e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38982059A>C;NG_008866.1:g.62720A>C;NM_000540.2:c.6127+687A>C;NM_001042723.1:c.6127+687A>C 283205960 11882813 GMI_AK_SNP_7526381 2.11e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38982075delT;NG_008866.1:g.62736delT;NM_000540.2:c.6127+703delT;NM_001042723.1:c.6127+703delT 193510334 112294433 BUSHMAN-chr19-43673914-43673915 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38982106G>C;NG_008866.1:g.62767G>C;NM_000540.2:c.6127+734G>C;NM_001042723.1:c.6127+734G>C 340454560 150263551 20100804_snps_12098101_chr19_38982106 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38982225C>T;NG_008866.1:g.62886C>T;NM_000540.2:c.6127+853C>T;NM_001042723.1:c.6127+853C>T 340454561 138729614 20100804_snps_12098102_chr19_38982225 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38982279A>T;NG_008866.1:g.62940A>T;NM_000540.2:c.6128-851A>T;NM_001042723.1:c.6128-851A>T 83596162 59419359 Cor19240_SNV_20070510.chr19_43674119 2.93e-02 2007.12.05 2007.12.05 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38982279A>T;NG_008866.1:g.62940A>T;NM_000540.2:c.6128-851A>T;NM_001042723.1:c.6128-851A>T 169707348 59419359 NA19240_36_chr19_43674119 2.93e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982279A>T;NG_008866.1:g.62940A>T;NM_000540.2:c.6128-851A>T;NM_001042723.1:c.6128-851A>T 340454562 59419359 20100804_snps_12098103_chr19_38982279 2.93e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 83198020 59052455 Cor19240_SNV_20070510.chr19_43674198 3.75e-01 2007.12.04 2007.12.04 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 117702559 59052455 NA18507_000043872_NCBI36.1_chr19_43674198 3.75e-01 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 155887825 59052455 GMI_SNP_120715004 3.75e-01 2009.06.24 2009.06.24 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 168183033 59052455 NA07022_36_chr19_43674198 3.75e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 169707367 59052455 NA19240_36_chr19_43674198 3.75e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 203750929 59052455 BUSHMAN-chr19-43674197 3.75e-01 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 208539407 59052455 BCM_CMT_1011-3137788 3.75e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 237674175 59052455 pilot_1_CEU_7278804_chr19_43674198 3.75e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 243880960 59052455 pilot_1_CHB+JPT_5766037_chr19_43674198 3.75e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 BL 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 255668502 59052455 SNP49646_19_43674198 3.75e-01 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38982358T>C;NG_008866.1:g.63019T>C;NM_000540.2:c.6128-772T>C;NM_001042723.1:c.6128-772T>C 283205961 59052455 GMI_AK_SNP_7526382 3.75e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982366G>C;NG_008866.1:g.63027G>C;NM_000540.2:c.6128-764G>C;NM_001042723.1:c.6128-764G>C 228135730 114838815 pilot_1_YRI_9945413_chr19_43674206 1.92e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38982413A>G;NG_008866.1:g.63074A>G;NM_000540.2:c.6128-717A>G;NM_001042723.1:c.6128-717A>G 340454563 144735093 20100804_snps_12098104_chr19_38982413 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38982565C>T;NG_008866.1:g.63226C>T;NM_000540.2:c.6128-565C>T;NM_001042723.1:c.6128-565C>T 465586787 187021734 20101123_snps_11754017_chr19_38982565 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.38982680A>C;NG_008866.1:g.63341A>C;NM_000540.2:c.6128-450A>C;NM_001042723.1:c.6128-450A>C 117702561 74682718 NA18507_000043873_NCBI36.1_chr19_43674520 1.97e-02 2009.01.20 2009.01.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982680A>C;NG_008866.1:g.63341A>C;NM_000540.2:c.6128-450A>C;NM_001042723.1:c.6128-450A>C 340454564 74682718 20100804_snps_12098105_chr19_38982680 1.97e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982708A>G;NG_008866.1:g.63369A>G;NM_000540.2:c.6128-422A>G;NM_001042723.1:c.6128-422A>G 465586788 191119376 20101123_snps_11754018_chr19_38982708 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38982810T>A;NG_008866.1:g.63471T>A;NM_000540.2:c.6128-320T>A;NM_001042723.1:c.6128-320T>A 14693737 10403479 chr19.NT_011109.15_11251028 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38982849T>C;NG_008866.1:g.63510T>C;NM_000540.2:c.6128-281T>C;NM_001042723.1:c.6128-281T>C 228135732 75917973 pilot_1_YRI_9945415_chr19_43674689 5.17e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38982849T>C;NG_008866.1:g.63510T>C;NM_000540.2:c.6128-281T>C;NM_001042723.1:c.6128-281T>C 237674176 75917973 pilot_1_CEU_7278805_chr19_43674689 5.17e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 6261 NC_000019.9:g.38982849T>C;NG_008866.1:g.63510T>C;NM_000540.2:c.6128-281T>C;NM_001042723.1:c.6128-281T>C 255668506 75917973 SNP49647_19_43674689 5.17e-02 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38982851C>T;NG_008866.1:g.63512C>T;NM_000540.2:c.6128-279C>T;NM_001042723.1:c.6128-279C>T 465586789 183594801 20101123_snps_11754019_chr19_38982851 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38982874A>G;NG_008866.1:g.63535A>G;NM_000540.2:c.6128-256A>G;NM_001042723.1:c.6128-256A>G 465586790 188342594 20101123_snps_11754020_chr19_38982874 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38982946A>T;NG_008866.1:g.63607A>T;NM_000540.2:c.6128-184A>T;NM_001042723.1:c.6128-184A>T 228135733 80096436 pilot_1_YRI_9945416_chr19_43674786 5.36e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38982946A>T;NG_008866.1:g.63607A>T;NM_000540.2:c.6128-184A>T;NM_001042723.1:c.6128-184A>T 237674177 80096436 pilot_1_CEU_7278806_chr19_43674786 5.36e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 6261 NC_000019.9:g.38982946A>T;NG_008866.1:g.63607A>T;NM_000540.2:c.6128-184A>T;NM_001042723.1:c.6128-184A>T 255668512 80096436 SNP49648_19_43674786 5.36e-02 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38982960A>G;NG_008866.1:g.63621A>G;NM_000540.2:c.6128-170A>G;NM_001042723.1:c.6128-170A>G 208483054 77756301 BCM_CMT_1011-3118442 6.40e-03 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982960A>G;NG_008866.1:g.63621A>G;NM_000540.2:c.6128-170A>G;NM_001042723.1:c.6128-170A>G 340454565 77756301 20100804_snps_12098106_chr19_38982960 6.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38982987C>T;NG_008866.1:g.63648C>T;NM_000540.2:c.6128-143C>T;NM_001042723.1:c.6128-143C>T 340454566 145995242 20100804_snps_12098107_chr19_38982987 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.38983001_38983002insAA;NG_008866.1:g.63662_63663insAA;NM_000540.2:c.6128-129_6128-128insAA;NM_001042723.1:c.6128-129_6128-128insAA 82912204 60482983 Cor19240_DIV_20070510.chr19_43674857-43674858_1 2007.12.03 2007.12.03 2007.12.16 2012.12.04 137 HGSV 6261 NC_000019.9:g.38983001_38983002insAA;NG_008866.1:g.63662_63663insAA;NM_000540.2:c.6128-129_6128-128insAA;NM_001042723.1:c.6128-129_6128-128insAA 83114427 60482983 Cor19240_DIV_20070510.chr19_43674857-43674858_2 2007.12.04 2007.12.04 2007.12.16 2012.12.04 137 1000GENOMES 6261 NC_000019.9:g.38983148A>G;NG_008866.1:g.63809A>G;NM_000540.2:c.6146A>G;NM_001042723.1:c.6146A>G;NP_000531.2:p.Glu2049Gly;NP_001036188.1:p.Glu2049Gly 489164454 200706743 20110521_exome_255619_chr19_38983148 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983151A>G;NG_008866.1:g.63812A>G;NM_000540.2:c.6149A>G;NM_001042723.1:c.6149A>G;NP_000531.2:p.Glu2050Gly;NP_001036188.1:p.Glu2050Gly 489164457 201098779 20110521_exome_255620_chr19_38983151 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 48401748 35364374 hCV8709827 3.25e-02 germline untested 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 69228169 35364374 PGP17792286 3.25e-02 germline untested 2007.01.30 2008.03.31 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 237674180 35364374 pilot_1_CEU_7278809_chr19_43675020 3.25e-02 germline untested 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 342496500 35364374 ESP2500-chr19-38983180 3.25e-02 unknown untested 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6178G>T NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 475871519 35364374 RYR1_00069 3.25e-02 unknown untested 2011.11.25 2011.11.25 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 483357837 35364374 HumanOmni2.5-4v1_D_kgp4443334-0_T_R_1816150486 3.25e-02 germline untested 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 483825950 35364374 HumanOmni2.5-4v1_B_SNP19-43675020-0_T_R_1628561811 3.25e-02 germline untested 2012.02.03 2012.02.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 491158003 35364374 20110521_exome_665801_chr19_38983180 3.25e-02 unknown untested 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 491546464 35364374 nonsyn_262690_chr_19_38983180 3.25e-02 germline untested 2012.03.06 2012.03.06 2006.03.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38983180G>T;NG_008866.1:g.63841G>T;NM_000540.2:c.6178G>T;NM_001042723.1:c.6178G>T;NP_000531.2:p.Gly2060Cys;NP_001036188.1:p.Gly2060Cys 491766181 35364374 SNV-chr19-43675020 3.25e-02 unknown untested 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38983193T>G;NG_008866.1:g.63854T>G;NM_000540.2:c.6191T>G;NM_001042723.1:c.6191T>G;NP_000531.2:p.Met2064Arg;NP_001036188.1:p.Met2064Arg 491766182 200388510 SNV-chr19-43675033 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38983203G>A;NG_008866.1:g.63864G>A;NM_000540.2:c.6201G>A;NM_001042723.1:c.6201G>A;NP_000531.2:p.Leu2067=;NP_001036188.1:p.Leu2067= 342496501 149243437 ESP2500-chr19-38983203 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38983213C>T;NG_008866.1:g.63874C>T;NM_000540.2:c.6211C>T;NM_001042723.1:c.6211C>T;NP_000531.2:p.Arg2071Trp;NP_001036188.1:p.Arg2071Trp 342496502 147441124 ESP2500-chr19-38983213 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38983214G>A;NG_008866.1:g.63875G>A;NM_000540.2:c.6212G>A;NM_001042723.1:c.6212G>A;NP_000531.2:p.Arg2071Gln;NP_001036188.1:p.Arg2071Gln 342496503 139775280 ESP2500-chr19-38983214 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983214G>A;NG_008866.1:g.63875G>A;NM_000540.2:c.6212G>A;NM_001042723.1:c.6212G>A;NP_000531.2:p.Arg2071Gln;NP_001036188.1:p.Arg2071Gln 465586791 139775280 20101123_snps_11754021_chr19_38983214 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983214G>A;NG_008866.1:g.63875G>A;NM_000540.2:c.6212G>A;NM_001042723.1:c.6212G>A;NP_000531.2:p.Arg2071Gln;NP_001036188.1:p.Arg2071Gln 491158004 139775280 20110521_exome_665802_chr19_38983214 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38983253G>A;NG_008866.1:g.63914G>A;NM_000540.2:c.6251G>A;NM_001042723.1:c.6251G>A;NP_000531.2:p.Arg2084Gln;NP_001036188.1:p.Arg2084Gln 342496504 143681974 ESP2500-chr19-38983253 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.38983278T>G;NG_008866.1:g.63939T>G;NM_000540.2:c.6274+2T>G;NM_001042723.1:c.6274+2T>G 169117126 112579989 Human1M-Duov3_B_GA034480-0_B_F_1533481986 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.38983331C>T;NG_008866.1:g.63992C>T;NM_000540.2:c.6274+55C>T;NM_001042723.1:c.6274+55C>T 16786840 11665970 CSHL-HuAA-200402.chr19.NT_011109.15_11251549 germline untested 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6274+55C>T NC_000019.9:g.38983331C>T;NG_008866.1:g.63992C>T;NM_000540.2:c.6274+55C>T;NM_001042723.1:c.6274+55C>T 475871520 11665970 RYR1_00349 germline untested 2011.11.25 2011.11.25 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983398T>A;NG_008866.1:g.64059T>A;NM_000540.2:c.6274+122T>A;NM_001042723.1:c.6274+122T>A 465586792 185692825 20101123_snps_11754022_chr19_38983398 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38983416G>A;NG_008866.1:g.64077G>A;NM_000540.2:c.6274+140G>A;NM_001042723.1:c.6274+140G>A 340454567 139987834 20100804_snps_12098108_chr19_38983416 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38983460G>A;NG_008866.1:g.64121G>A;NM_000540.2:c.6274+184G>A;NM_001042723.1:c.6274+184G>A 203750930 113943130 BUSHMAN-chr19-43675299 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38983480G>A;NG_008866.1:g.64141G>A;NM_000540.2:c.6274+204G>A;NM_001042723.1:c.6274+204G>A 465586793 190115272 20101123_snps_11754023_chr19_38983480 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.38983534C>A;NG_008866.1:g.64195C>A;NM_000540.2:c.6274+258C>A;NM_001042723.1:c.6274+258C>A 117702563 77003470 NA18507_000043874_NCBI36.1_chr19_43675374 8.61e-02 2009.01.20 2009.01.20 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.38983534C>A;NG_008866.1:g.64195C>A;NM_000540.2:c.6274+258C>A;NM_001042723.1:c.6274+258C>A 255668518 77003470 SNP49649_19_43675374 8.61e-02 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983534C>A;NG_008866.1:g.64195C>A;NM_000540.2:c.6274+258C>A;NM_001042723.1:c.6274+258C>A 340454568 77003470 20100804_snps_12098109_chr19_38983534 8.61e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 10920381 7246905 chr19.NT_011109.15_11251793 1.19e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 21515896 7246905 WGSA-200403-chr19.chr19.NT_011109.15_11251793 1.19e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 40965262 7246905 hCV30930949 1.19e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 96305674 7246905 1103691141814 1.19e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 136267530 7246905 ENSSNP1527909 1.19e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 155887832 7246905 GMI_SNP_366983046 1.19e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 169707390 7246905 NA19240_36_chr19_43675415 1.19e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 203750931 7246905 BUSHMAN-chr19-43675414 1.19e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 208539098 7246905 BCM_CMT_1011-3137682 1.19e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 283205962 7246905 GMI_AK_SNP_7526383 1.19e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 292248494 7246905 SNP_1754852_chr19_43675415 1.19e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983575C>T;NG_008866.1:g.64236C>T;NM_000540.2:c.6274+299C>T;NM_001042723.1:c.6274+299C>T 340454569 7246905 20100804_snps_12098110_chr19_38983575 1.19e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38983596G>T;NG_008866.1:g.64257G>T;NM_000540.2:c.6274+320G>T;NM_001042723.1:c.6274+320G>T 16787285 11666125 CSHL-HuAA-200402.chr19.NT_011109.15_11251814 2004.02.18 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38983633C>T;NG_008866.1:g.64294C>T;NM_000540.2:c.6274+357C>T;NM_001042723.1:c.6274+357C>T 340454570 139045983 20100804_snps_12098111_chr19_38983633 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38983695C>T;NG_008866.1:g.64356C>T;NM_000540.2:c.6274+419C>T;NM_001042723.1:c.6274+419C>T 465586794 181813646 20101123_snps_11754024_chr19_38983695 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38983816A>C;NG_008866.1:g.64477A>C;NM_000540.2:c.6274+540A>C;NM_001042723.1:c.6274+540A>C 228135734 115703989 pilot_1_YRI_9945417_chr19_43675656 1.83e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 GMI 6261 NC_000019.9:g.38983838G>A;NG_008866.1:g.64499G>A;NM_000540.2:c.6274+562G>A;NM_001042723.1:c.6274+562G>A 155887840 76631277 GMI_SNP_74135662 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38983838G>A;NG_008866.1:g.64499G>A;NM_000540.2:c.6274+562G>A;NM_001042723.1:c.6274+562G>A 243880961 76631277 pilot_1_CHB+JPT_5766038_chr19_43675678 1.05e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38983838G>A;NG_008866.1:g.64499G>A;NM_000540.2:c.6274+562G>A;NM_001042723.1:c.6274+562G>A 283205963 76631277 GMI_AK_SNP_7526384 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984135G>C;NG_008866.1:g.64796G>C;NM_000540.2:c.6275-857G>C;NM_001042723.1:c.6275-857G>C 111365625 73030970 CEU.trio.12.15.2008_3616639_chr19_43675975 7.80e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984135G>C;NG_008866.1:g.64796G>C;NM_000540.2:c.6275-857G>C;NM_001042723.1:c.6275-857G>C 340454571 73030970 20100804_snps_12098112_chr19_38984135 7.80e-03 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38984156G>T;NG_008866.1:g.64817G>T;NM_000540.2:c.6275-836G>T;NM_001042723.1:c.6275-836G>T 203750932 112542526 BUSHMAN-chr19-43675995 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38984156G>T;NG_008866.1:g.64817G>T;NM_000540.2:c.6275-836G>T;NM_001042723.1:c.6275-836G>T 208514267 112542526 BCM_CMT_1011-3129328 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38984156G>T;NG_008866.1:g.64817G>T;NM_000540.2:c.6275-836G>T;NM_001042723.1:c.6275-836G>T 283205964 112542526 GMI_AK_SNP_7526385 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984156delG;NG_008866.1:g.64817delG;NM_000540.2:c.6275-836delG;NM_001042723.1:c.6275-836delG 327903769 145987199 JPTCHB_chr19_43675995_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 ILLUMINA 6261 NC_000019.9:g.38984156G>T;NG_008866.1:g.64817G>T;NM_000540.2:c.6275-836G>T;NM_001042723.1:c.6275-836G>T 483546624 112542526 HumanOmni2.5-4v1_D_kgp5472618-0_B_F_1816304613 2012.02.02 2012.02.02 2010.07.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38984156G>T;NG_008866.1:g.64817G>T;NM_000540.2:c.6275-836G>T;NM_001042723.1:c.6275-836G>T 483825952 112542526 HumanOmni2.5-4v1_B_SNP19-43675996-0_B_F_1622672136 2012.02.03 2012.02.03 2010.07.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.38984157_38984158insT;NG_008866.1:g.64818_64819insT;NM_000540.2:c.6275-835_6275-834insT;NM_001042723.1:c.6275-835_6275-834insT 79966123 58975597 Cor18507_DIV_20070510.chr19_43676013-43676014_1 2007.11.24 2007.11.24 2007.12.15 2012.05.11 137 PJP 6261 NC_000019.9:g.38984157_38984158insT;NG_008866.1:g.64818_64819insT;NM_000540.2:c.6275-835_6275-834insT;NM_001042723.1:c.6275-835_6275-834insT 294962534 58975597 DIP_400238_chr19_43675997 2011.01.22 2011.01.22 2007.12.15 2012.05.11 137 1000GENOMES 6261 NC_000019.9:g.38984195G>T;NG_008866.1:g.64856G>T;NM_000540.2:c.6275-797G>T;NM_001042723.1:c.6275-797G>T 465586795 186326026 20101123_snps_11754025_chr19_38984195 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38984279C>T;NG_008866.1:g.64940C>T;NM_000540.2:c.6275-713C>T;NM_001042723.1:c.6275-713C>T 340454572 144967889 20100804_snps_12098113_chr19_38984279 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38984341G>A;NG_008866.1:g.65002G>A;NM_000540.2:c.6275-651G>A;NM_001042723.1:c.6275-651G>A 171754318 112770713 NA20431_36_chr19_43676181 4.10e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984341G>A;NG_008866.1:g.65002G>A;NM_000540.2:c.6275-651G>A;NM_001042723.1:c.6275-651G>A 340454573 112770713 20100804_snps_12098114_chr19_38984341 4.10e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984441T>C;NG_008866.1:g.65102T>C;NM_000540.2:c.6275-551T>C;NM_001042723.1:c.6275-551T>C 340454574 145582233 20100804_snps_12098115_chr19_38984441 2.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38984522G>A;NG_008866.1:g.65183G>A;NM_000540.2:c.6275-470G>A;NM_001042723.1:c.6275-470G>A 340454575 147724887 20100804_snps_12098116_chr19_38984522 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 17622982 11881994 CSHL-HuCC-200402.chr19.NT_011109.15_11252783 1.97e-02 2004.02.19 2006.10.26 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 44187535 11881994 hCV30930951 1.97e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 117702566 11881994 NA18507_000043875_NCBI36.1_chr19_43676405 1.97e-02 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 160013638 11881994 HumanOmni1-Quad_v1-0_B_rs11881994-128_T_R_1572949996 1.97e-02 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 161878500 11881994 ENSSNP1527910 1.97e-02 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 228135735 11881994 pilot_1_YRI_9945418_chr19_43676405 1.97e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38984565T>C;NG_008866.1:g.65226T>C;NM_000540.2:c.6275-427T>C;NM_001042723.1:c.6275-427T>C 480120250 11881994 HumanOmni1-Quad_v1-0_C_rs11881994-131_T_R_1863773476 1.97e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984713G>A;NG_008866.1:g.65374G>A;NM_000540.2:c.6275-279G>A;NM_001042723.1:c.6275-279G>A 211962603 114656643 YRI.trio.3.2010_1440239_chr19_43676553 4.10e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984713G>A;NG_008866.1:g.65374G>A;NM_000540.2:c.6275-279G>A;NM_001042723.1:c.6275-279G>A 228135736 114656643 pilot_1_YRI_9945419_chr19_43676553 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984758G>A;NG_008866.1:g.65419G>A;NM_000540.2:c.6275-234G>A;NM_001042723.1:c.6275-234G>A 465586796 190292310 20101123_snps_11754026_chr19_38984758 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38984867C>T;NG_008866.1:g.65528C>T;NM_000540.2:c.6275-125C>T;NM_001042723.1:c.6275-125C>T 155887845 74421511 GMI_SNP_154013569 6.40e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984867C>T;NG_008866.1:g.65528C>T;NM_000540.2:c.6275-125C>T;NM_001042723.1:c.6275-125C>T 243880962 74421511 pilot_1_CHB+JPT_5766039_chr19_43676707 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38984867C>T;NG_008866.1:g.65528C>T;NM_000540.2:c.6275-125C>T;NM_001042723.1:c.6275-125C>T 283205965 74421511 GMI_AK_SNP_7526386 6.40e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38984906G>T;NG_008866.1:g.65567G>T;NM_000540.2:c.6275-86G>T;NM_001042723.1:c.6275-86G>T 203750933 113148530 BUSHMAN-chr19-43676745 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.38984921T>C;NG_008866.1:g.65582T>C;NM_000540.2:c.6275-71T>C;NM_001042723.1:c.6275-71T>C 117702568 73930594 NA18507_000043876_NCBI36.1_chr19_43676761 1.97e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984921T>C;NG_008866.1:g.65582T>C;NM_000540.2:c.6275-71T>C;NM_001042723.1:c.6275-71T>C 228135737 73930594 pilot_1_YRI_9945420_chr19_43676761 1.97e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38984944C>T;NG_008866.1:g.65605C>T;NM_000540.2:c.6275-48C>T;NM_001042723.1:c.6275-48C>T 489164459 200070835 20110521_exome_255621_chr19_38984944 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38985060G>A;NG_008866.1:g.65721G>A;NM_000540.2:c.6343G>A;NM_001042723.1:c.6343G>A;NP_000531.2:p.Glu2115Lys;NP_001036188.1:p.Glu2115Lys 342496505 147197176 ESP2500-chr19-38985060 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.6349G>C NC_000019.9:g.38985066G>C;NG_008866.1:g.65727G>C;NM_000540.2:c.6349G>C;NM_001042723.1:c.6349G>C;NP_000531.2:p.Val2117Leu;NP_001036188.1:p.Val2117Leu 475871521 193922788 RYR1_00215 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38985069C>T;NG_008866.1:g.65730C>T;NM_000540.2:c.6352C>T;NM_001042723.1:c.6352C>T;NP_000531.2:p.Arg2118Trp;NP_001036188.1:p.Arg2118Trp 342496506 148660840 ESP2500-chr19-38985069 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38985070G>C;NG_008866.1:g.65731G>C;NM_000540.2:c.6353G>C;NM_001042723.1:c.6353G>C;NP_000531.2:p.Arg2118Pro;NP_001036188.1:p.Arg2118Pro 489164461 201649680 20110521_exome_255622_chr19_38985070 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 228135738 75181912 pilot_1_YRI_9945421_chr19_43676941 4.60e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 342496507 75181912 ESP2500-chr19-38985101 4.60e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 482333363 75181912 HumanOmni2.5-4v1_D_kgp21427419-0_B_F_1844207129 4.60e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 483825954 75181912 HumanOmni2.5-4v1_B_SNP19-43676941-0_B_F_1644424808 4.60e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 491158005 75181912 20110521_exome_665803_chr19_38985101 4.60e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38985101C>T;NG_008866.1:g.65762C>T;NM_000540.2:c.6384C>T;NM_001042723.1:c.6384C>T;NP_000531.2:p.Tyr2128=;NP_001036188.1:p.Tyr2128= 491766183 75181912 SNV-chr19-43676941 4.60e-03 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 243880963 117886618 pilot_1_CHB+JPT_5766040_chr19_43676944 4.60e-03 unknown untested 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6387C>G NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 475871522 117886618 RYR1_00195 4.60e-03 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 482346758 117886618 HumanOmni2.5-4v1_D_kgp21501527-0_B_F_1844355333 4.60e-03 unknown untested 2012.02.01 2012.02.01 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 483825956 117886618 HumanOmni2.5-4v1_B_SNP19-43676944-0_B_F_1644526471 4.60e-03 germline untested 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 491158006 117886618 20110521_exome_665804_chr19_38985104 4.60e-03 germline untested 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38985104C>G;NG_008866.1:g.65765C>G;NM_000540.2:c.6387C>G;NM_001042723.1:c.6387C>G;NP_000531.2:p.Asp2129Glu;NP_001036188.1:p.Asp2129Glu 491766184 117886618 SNV-chr19-43676944 4.60e-03 germline untested 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6388G>A NC_000019.9:g.38985105G>A;NG_008866.1:g.65766G>A;NM_000540.2:c.6388G>A;NM_001042723.1:c.6388G>A;NP_000531.2:p.Gly2130Arg;NP_001036188.1:p.Gly2130Arg 475871523 193922789 RYR1_00261 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38985113T>A;NG_008866.1:g.65774T>A;NM_000540.2:c.6396T>A;NM_001042723.1:c.6396T>A;NP_000531.2:p.Gly2132=;NP_001036188.1:p.Gly2132= 465586797 181419618 20101123_snps_11754027_chr19_38985113 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985113T>A;NG_008866.1:g.65774T>A;NM_000540.2:c.6396T>A;NM_001042723.1:c.6396T>A;NP_000531.2:p.Gly2132=;NP_001036188.1:p.Gly2132= 491158007 181419618 20110521_exome_665805_chr19_38985113 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985139C>T;NG_008866.1:g.65800C>T;NM_000540.2:c.6422C>T;NM_001042723.1:c.6422C>T;NP_000531.2:p.Ala2141Val;NP_001036188.1:p.Ala2141Val 489164463 201293931 20110521_exome_255623_chr19_38985139 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38985149C>T;NG_008866.1:g.65810C>T;NM_000540.2:c.6432C>T;NM_001042723.1:c.6432C>T;NP_000531.2:p.Ile2144=;NP_001036188.1:p.Ile2144= 342496508 151063086 ESP2500-chr19-38985149 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38985161C>T;NG_008866.1:g.65822C>T;NM_000540.2:c.6444C>T;NM_001042723.1:c.6444C>T;NP_000531.2:p.Ser2148=;NP_001036188.1:p.Ser2148= 489164465 200381338 20110521_exome_255624_chr19_38985161 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38985185C>G;NG_008866.1:g.65846C>G;NM_000540.2:c.6468C>G;NM_001042723.1:c.6468C>G;NP_000531.2:p.Leu2156=;NP_001036188.1:p.Leu2156= 342496509 139714680 ESP2500-chr19-38985185 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38985195G>A;NG_008866.1:g.65856G>A;NM_000540.2:c.6478G>A;NM_001042723.1:c.6478G>A;NP_000531.2:p.Gly2160Ser;NP_001036188.1:p.Gly2160Ser 340454577 143398211 20100804_snps_12098118_chr19_38985195 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985195G>A;NG_008866.1:g.65856G>A;NM_000540.2:c.6478G>A;NM_001042723.1:c.6478G>A;NP_000531.2:p.Gly2160Ser;NP_001036188.1:p.Gly2160Ser 491158008 143398211 20110521_exome_665806_chr19_38985195 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.6487C>T NC_000019.9:g.38985204C>T;NG_008866.1:g.65865C>T;NM_000540.2:c.6487C>T;NM_001042723.1:c.6487C>T;NP_000531.2:p.Arg2163Cys;NP_001036188.1:p.Arg2163Cys 252444744 118192175 CCORE_84 germline other 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG2163CYS NC_000019.9:g.38985204C>T;NG_008866.1:g.65865C>T;NM_000540.2:c.6487C>T;NM_001042723.1:c.6487C>T;NP_000531.2:p.Arg2163Cys;NP_001036188.1:p.Arg2163Cys 275518436 118192175 5305 germline other 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6487C>T NC_000019.9:g.38985204C>T;NG_008866.1:g.65865C>T;NM_000540.2:c.6487C>T;NM_001042723.1:c.6487C>T;NP_000531.2:p.Arg2163Cys;NP_001036188.1:p.Arg2163Cys 475871524 118192175 RYR1_00155 germline other 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.6488G>A NC_000019.9:g.38985205G>A;NC_000019.9:g.38985205G>C;NG_008866.1:g.65866G>A;NG_008866.1:g.65866G>C;NM_000540.2:c.6488G>A;NM_000540.2:c.6488G>C;NM_001042723.1:c.6488G>A;NM_001042723.1:c.6488G>C;NP_000531.2:p.Arg2163His;NP_000531.2:p.Arg2163Pro;NP_001036188.1:p.Arg2163His;NP_001036188.1:p.Arg2163Pro 252444731 118192163 CCORE_66 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG2163HIS NC_000019.9:g.38985205G>A;NC_000019.9:g.38985205G>C;NG_008866.1:g.65866G>A;NG_008866.1:g.65866G>C;NM_000540.2:c.6488G>A;NM_000540.2:c.6488G>C;NM_001042723.1:c.6488G>A;NM_001042723.1:c.6488G>C;NP_000531.2:p.Arg2163His;NP_000531.2:p.Arg2163Pro;NP_001036188.1:p.Arg2163His;NP_001036188.1:p.Arg2163Pro 275518437 118192163 5306 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6488G>A NC_000019.9:g.38985205G>A;NC_000019.9:g.38985205G>C;NG_008866.1:g.65866G>A;NG_008866.1:g.65866G>C;NM_000540.2:c.6488G>A;NM_000540.2:c.6488G>C;NM_001042723.1:c.6488G>A;NM_001042723.1:c.6488G>C;NP_000531.2:p.Arg2163His;NP_000531.2:p.Arg2163Pro;NP_001036188.1:p.Arg2163His;NP_001036188.1:p.Arg2163Pro 475871525 118192163 RYR1_00113 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6488G>C NC_000019.9:g.38985205G>A;NC_000019.9:g.38985205G>C;NG_008866.1:g.65866G>A;NG_008866.1:g.65866G>C;NM_000540.2:c.6488G>A;NM_000540.2:c.6488G>C;NM_001042723.1:c.6488G>A;NM_001042723.1:c.6488G>C;NP_000531.2:p.Arg2163His;NP_000531.2:p.Arg2163Pro;NP_001036188.1:p.Arg2163His;NP_001036188.1:p.Arg2163Pro 475871526 118192163 RYR1_00172 unknown pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38985215C>T;NG_008866.1:g.65876C>T;NM_000540.2:c.6498C>T;NM_001042723.1:c.6498C>T;NP_000531.2:p.Leu2166=;NP_001036188.1:p.Leu2166= 340454578 151313865 20100804_snps_12098119_chr19_38985215 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38985215C>T;NG_008866.1:g.65876C>T;NM_000540.2:c.6498C>T;NM_001042723.1:c.6498C>T;NP_000531.2:p.Leu2166=;NP_001036188.1:p.Leu2166= 342496510 151313865 ESP2500-chr19-38985215 7.80e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985215C>T;NG_008866.1:g.65876C>T;NM_000540.2:c.6498C>T;NM_001042723.1:c.6498C>T;NP_000531.2:p.Leu2166=;NP_001036188.1:p.Leu2166= 491158009 151313865 20110521_exome_665807_chr19_38985215 7.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.6502G>A NC_000019.9:g.38985219G>A;NG_008866.1:g.65880G>A;NM_000540.2:c.6502G>A;NM_001042723.1:c.6502G>A;NP_000531.2:p.Val2168Met;NP_001036188.1:p.Val2168Met 252444745 118192176 CCORE_86 germline other 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.VAL2168MET NC_000019.9:g.38985219G>A;NG_008866.1:g.65880G>A;NM_000540.2:c.6502G>A;NM_001042723.1:c.6502G>A;NP_000531.2:p.Val2168Met;NP_001036188.1:p.Val2168Met 275518439 118192176 5308 germline other 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6502G>A NC_000019.9:g.38985219G>A;NG_008866.1:g.65880G>A;NM_000540.2:c.6502G>A;NM_001042723.1:c.6502G>A;NP_000531.2:p.Val2168Met;NP_001036188.1:p.Val2168Met 475871527 118192176 RYR1_00093 germline other 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38985257G>A;NG_008866.1:g.65918G>A;NM_000540.2:c.6540G>A;NM_001042723.1:c.6540G>A;NP_000531.2:p.Gln2180=;NP_001036188.1:p.Gln2180= 342496511 146773090 ESP2500-chr19-38985257 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.6544A>T NC_000019.9:g.38985261A>T;NG_008866.1:g.65922A>T;NM_000540.2:c.6544A>T;NM_001042723.1:c.6544A>T;NP_000531.2:p.Ile2182Phe;NP_001036188.1:p.Ile2182Phe 475871528 193922790 RYR1_00298 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38985271A>G;NG_008866.1:g.65932A>G;NM_000540.2:c.6548+6A>G;NM_001042723.1:c.6548+6A>G 491766185 200428808 SNV-chr19-43677111 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 168183046 75563090 NA07022_36_chr19_43677148 3.71e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 237674182 75563090 pilot_1_CEU_7278811_chr19_43677148 3.71e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 243880964 75563090 pilot_1_CHB+JPT_5766041_chr19_43677148 3.71e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 483825959 75563090 HumanOmni2.5-4v1_B_SNP19-43677148-0_B_R_1628427007 3.71e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 484030917 75563090 HumanOmni2.5-4v1_D_kgp8112899-0_B_R_1816470712 3.71e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 491158010 75563090 20110521_exome_665808_chr19_38985308 3.71e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38985308G>A;NG_008866.1:g.65969G>A;NM_000540.2:c.6548+43G>A;NM_001042723.1:c.6548+43G>A 491766186 75563090 SNV-chr19-43677148 3.71e-02 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38985324G>T;NG_008866.1:g.65985G>T;NM_000540.2:c.6548+59G>T;NM_001042723.1:c.6548+59G>T 283205966 200665292 GMI_AK_SNP_7526387 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38985369G>C;NG_008866.1:g.66030G>C;NM_000540.2:c.6548+104G>C;NM_001042723.1:c.6548+104G>C 465586798 185216112 20101123_snps_11754028_chr19_38985369 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985384C>T;NG_008866.1:g.66045C>T;NM_000540.2:c.6548+119C>T;NM_001042723.1:c.6548+119C>T 340454579 140470643 20100804_snps_12098120_chr19_38985384 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38985431C>T;NG_008866.1:g.66092C>T;NM_000540.2:c.6548+166C>T;NM_001042723.1:c.6548+166C>T 203750934 111849385 BUSHMAN-chr19-43677270 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 ABI 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 41025544 35968585 hCV7821705 3.02e-02 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 96305675 35968585 1103691141815 3.02e-02 2008.03.26 2008.03.26 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 155887854 35968585 GMI_SNP_41082520 3.02e-02 2009.06.24 2009.06.24 2006.03.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 203750935 35968585 BUSHMAN-chr19-43677299 3.02e-02 2010.03.09 2010.03.09 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 237674183 35968585 pilot_1_CEU_7278812_chr19_43677300 3.02e-02 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 243880965 35968585 pilot_1_CHB+JPT_5766042_chr19_43677300 3.02e-02 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 283205967 35968585 GMI_AK_SNP_7526388 3.02e-02 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38985460T>C;NG_008866.1:g.66121T>C;NM_000540.2:c.6548+195T>C;NM_001042723.1:c.6548+195T>C 292248495 35968585 SNP_1754853_chr19_43677300 3.02e-02 2011.01.21 2011.01.21 2006.03.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 40985440 35632532 hCV7821704 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 83201553 35632532 Cor19240_SNV_20070510.chr19_43677333 2007.12.04 2007.12.04 2006.03.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 85121102 35632532 Cor19129_SNV_20070510.chr19_43677333 2007.12.08 2007.12.08 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 96305676 35632532 1103691141816 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 142550195 35632532 ENSSNP4864080 2009.06.05 2009.10.16 2006.03.15 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 169707411 35632532 NA19240_36_chr19_43677333 2009.10.01 2009.10.01 2006.03.15 2011.09.09 137 PJP 6261 NC_000019.9:g.38985493C>T;NG_008866.1:g.66154C>T;NM_000540.2:c.6548+228C>T;NM_001042723.1:c.6548+228C>T 292248496 35632532 SNP_1754854_chr19_43677333 2011.01.21 2011.01.21 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38985602C>T;NG_008866.1:g.66263C>T;NM_000540.2:c.6548+337C>T;NM_001042723.1:c.6548+337C>T 465586799 189977980 20101123_snps_11754029_chr19_38985602 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985646C>T;NG_008866.1:g.66307C>T;NM_000540.2:c.6548+381C>T;NM_001042723.1:c.6548+381C>T 340454580 150400373 20100804_snps_12098121_chr19_38985646 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38985655G>C;NG_008866.1:g.66316G>C;NM_000540.2:c.6548+390G>C;NM_001042723.1:c.6548+390G>C 465586800 183908889 20101123_snps_11754030_chr19_38985655 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985692A>G;NG_008866.1:g.66353A>G;NM_000540.2:c.6548+427A>G;NM_001042723.1:c.6548+427A>G 465586801 188860205 20101123_snps_11754031_chr19_38985692 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38985702_38985711delGACTAGTCTC;NG_008866.1:g.66363_66372delGACTAGTCTC;NM_000540.2:c.6548+437_6548+446delGACTAGTCTC;NM_001042723.1:c.6548+437_6548+446delGACTAGTCTC 289387899 148411268 GMI_AK_INDEL_1065356 1.05e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985702_38985711delGACTAGTCTC;NG_008866.1:g.66363_66372delGACTAGTCTC;NM_000540.2:c.6548+437_6548+446delGACTAGTCTC;NM_001042723.1:c.6548+437_6548+446delGACTAGTCTC 327903773 148411268 JPTCHB_chr19_43677541_indel 1.05e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985702_38985711delGACTAGTCTC;NG_008866.1:g.66363_66372delGACTAGTCTC;NM_000540.2:c.6548+437_6548+446delGACTAGTCTC;NM_001042723.1:c.6548+437_6548+446delGACTAGTCTC 499576304 148411268 20110316_indels_chr19_38985701_38985710 1.05e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985718C>T;NG_008866.1:g.66379C>T;NM_000540.2:c.6548+453C>T;NM_001042723.1:c.6548+453C>T 465586802 191634829 20101123_snps_11754032_chr19_38985718 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985743C>T;NG_008866.1:g.66404C>T;NM_000540.2:c.6548+478C>T;NM_001042723.1:c.6548+478C>T 465586803 183475007 20101123_snps_11754033_chr19_38985743 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38985750C>T;NG_008866.1:g.66411C>T;NM_000540.2:c.6548+485C>T;NM_001042723.1:c.6548+485C>T 155887859 76546688 GMI_SNP_179459982 1.05e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38985750C>T;NG_008866.1:g.66411C>T;NM_000540.2:c.6548+485C>T;NM_001042723.1:c.6548+485C>T 283205968 76546688 GMI_AK_SNP_7526389 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985750C>T;NG_008866.1:g.66411C>T;NM_000540.2:c.6548+485C>T;NM_001042723.1:c.6548+485C>T 340454581 76546688 20100804_snps_12098122_chr19_38985750 1.05e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985767G>C;NG_008866.1:g.66428G>C;NM_000540.2:c.6548+502G>C;NM_001042723.1:c.6548+502G>C 465586804 187510204 20101123_snps_11754034_chr19_38985767 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985801C>T;NG_008866.1:g.66462C>T;NM_000540.2:c.6548+536C>T;NM_001042723.1:c.6548+536C>T 465586805 191669996 20101123_snps_11754035_chr19_38985801 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38985899A>T;NG_008866.1:g.66560A>T;NM_000540.2:c.6548+634A>T;NM_001042723.1:c.6548+634A>T 465586806 182633391 20101123_snps_11754036_chr19_38985899 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 17618891 11880533 CSHL-HuCC-200402.chr19.NT_011109.15_11254197 1.85e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 41028810 11880533 hCV7821700 1.85e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 82219950 11880533 Cor19240_SNV_20070510.chr19_43677819 1.85e-01 2007.12.02 2007.12.02 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 111365633 11880533 CEU.trio.12.15.2008_3616640_chr19_43677819 1.85e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 115120465 11880533 NA19240_2008_12_16_3257598_chr19_43677819 1.85e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 117702570 11880533 NA18507_000043877_NCBI36.1_chr19_43677819 1.85e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 136267525 11880533 ENSSNP1527912 1.85e-01 2009.05.15 2010.03.07 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 155887867 11880533 GMI_SNP_104062081 1.85e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 169707432 11880533 NA19240_36_chr19_43677819 1.85e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 203750936 11880533 BUSHMAN-chr19-43677818 1.85e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 208483045 11880533 BCM_CMT_1011-3118439 1.85e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 228135739 11880533 pilot_1_YRI_9945422_chr19_43677819 1.85e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 237674184 11880533 pilot_1_CEU_7278813_chr19_43677819 1.85e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 243880966 11880533 pilot_1_CHB+JPT_5766043_chr19_43677819 1.85e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 255668521 11880533 SNP49650_19_43677819 1.85e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 283205969 11880533 GMI_AK_SNP_7526390 1.85e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38985979G>A;NG_008866.1:g.66640G>A;NM_000540.2:c.6548+714G>A;NM_001042723.1:c.6548+714G>A 292248497 11880533 SNP_1754855_chr19_43677819 1.85e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986010G>C;NG_008866.1:g.66671G>C;NM_000540.2:c.6548+745G>C;NM_001042723.1:c.6548+745G>C 340454582 142836103 20100804_snps_12098123_chr19_38986010 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986020C>T;NG_008866.1:g.66681C>T;NM_000540.2:c.6548+755C>T;NM_001042723.1:c.6548+755C>T 340454583 145040488 20100804_snps_12098124_chr19_38986020 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986108C>T;NG_008866.1:g.66769C>T;NM_000540.2:c.6549-747C>T;NM_001042723.1:c.6549-747C>T 465586807 186610449 20101123_snps_11754037_chr19_38986108 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 17618928 11880546 CSHL-HuCC-200402.chr19.NT_011109.15_11254487 1.82e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 41049310 11880546 hCV11507947 1.82e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 80465585 11880546 Cor18507_SNV_20070510.chr19_43678109 1.82e-01 2007.11.25 2007.11.25 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 96305677 11880546 1103691141821 1.82e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 111365642 11880546 CEU.trio.12.15.2008_3616641_chr19_43678109 1.82e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 115120475 11880546 NA19240_2008_12_16_3257599_chr19_43678109 1.82e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 117702572 11880546 NA18507_000043878_NCBI36.1_chr19_43678109 1.82e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 136267522 11880546 ENSSNP1527913 1.82e-01 2009.05.15 2010.03.07 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 155887873 11880546 GMI_SNP_74062817 1.82e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 169707450 11880546 NA19240_36_chr19_43678109 1.82e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 203750937 11880546 BUSHMAN-chr19-43678108 1.82e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 208459929 11880546 BCM_CMT_1011-3110838 1.82e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 228135740 11880546 pilot_1_YRI_9945423_chr19_43678109 1.82e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 237674185 11880546 pilot_1_CEU_7278814_chr19_43678109 1.82e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 255668526 11880546 SNP49651_19_43678109 1.82e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38986269A>T;NG_008866.1:g.66930A>T;NM_000540.2:c.6549-586A>T;NM_001042723.1:c.6549-586A>T 283205970 11880546 GMI_AK_SNP_7526391 1.82e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 96305678 71356808 1103691141822 3.02e-02 2008.03.26 2008.03.26 2009.02.13 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 139877438 71356808 ENSSNP3670750 3.02e-02 2009.05.19 2009.10.16 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 155887881 71356808 GMI_SNP_74173820 3.02e-02 2009.06.24 2009.06.24 2009.02.13 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 203750938 71356808 BUSHMAN-chr19-43678116 3.02e-02 2010.03.09 2010.03.09 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 228135741 71356808 pilot_1_YRI_9945424_chr19_43678117 3.02e-02 2010.04.22 2010.04.22 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 237674186 71356808 pilot_1_CEU_7278815_chr19_43678117 3.02e-02 2010.05.01 2010.05.01 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 283205971 71356808 GMI_AK_SNP_7526392 3.02e-02 2010.12.16 2010.12.16 2009.02.13 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 483757168 71356808 HumanOmni2.5-4v1_D_kgp6615279-0_B_R_1816103811 3.02e-02 2012.02.03 2012.02.03 2009.02.13 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38986277C>A;NG_008866.1:g.66938C>A;NM_000540.2:c.6549-578C>A;NM_001042723.1:c.6549-578C>A 483825961 71356808 HumanOmni2.5-4v1_B_SNP19-43678117-0_B_R_1628607925 3.02e-02 2012.02.03 2012.02.03 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986350C>T;NG_008866.1:g.67011C>T;NM_000540.2:c.6549-505C>T;NM_001042723.1:c.6549-505C>T 340454584 138690418 20100804_snps_12098125_chr19_38986350 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.38986402T>G;NG_008866.1:g.67063T>G;NM_000540.2:c.6549-453T>G;NM_001042723.1:c.6549-453T>G 255668533 75564424 SNP49652_19_43678242 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.38986415T>A;NG_008866.1:g.67076T>A;NM_000540.2:c.6549-440T>A;NM_001042723.1:c.6549-440T>A 155887889 74493019 GMI_SNP_104003375 1.01e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38986415T>A;NG_008866.1:g.67076T>A;NM_000540.2:c.6549-440T>A;NM_001042723.1:c.6549-440T>A 283205972 74493019 GMI_AK_SNP_7526393 1.01e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986415T>A;NG_008866.1:g.67076T>A;NM_000540.2:c.6549-440T>A;NM_001042723.1:c.6549-440T>A 465586808 74493019 20101123_snps_11754038_chr19_38986415 1.01e-02 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.38986420A>T;NG_008866.1:g.67081A>T;NM_000540.2:c.6549-435A>T;NM_001042723.1:c.6549-435A>T 255668536 114963220 SNP49653_19_43678260 2010.08.20 2010.08.20 2010.07.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38986420delA;NG_008866.1:g.67081delA;NM_000540.2:c.6549-435delA;NM_001042723.1:c.6549-435delA 327903775 151331302 JPTCHB_chr19_43678259_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986488C>T;NG_008866.1:g.67149C>T;NM_000540.2:c.6549-367C>T;NM_001042723.1:c.6549-367C>T 465586809 185582094 20101123_snps_11754039_chr19_38986488 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38986495C>T;NG_008866.1:g.67156C>T;NM_000540.2:c.6549-360C>T;NM_001042723.1:c.6549-360C>T 465586810 190404771 20101123_snps_11754040_chr19_38986495 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38986505C>T;NG_008866.1:g.67166C>T;NM_000540.2:c.6549-350C>T;NM_001042723.1:c.6549-350C>T 340454585 149287652 20100804_snps_12098126_chr19_38986505 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986529C>T;NG_008866.1:g.67190C>T;NM_000540.2:c.6549-326C>T;NM_001042723.1:c.6549-326C>T 340454586 144614891 20100804_snps_12098127_chr19_38986529 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986552G>A;NG_008866.1:g.67213G>A;NM_000540.2:c.6549-303G>A;NM_001042723.1:c.6549-303G>A 465586811 193034997 20101123_snps_11754041_chr19_38986552 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38986559C>T;NG_008866.1:g.67220C>T;NM_000540.2:c.6549-296C>T;NM_001042723.1:c.6549-296C>T 340454587 148478528 20100804_snps_12098128_chr19_38986559 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986638A>G;NG_008866.1:g.67299A>G;NM_000540.2:c.6549-217A>G;NM_001042723.1:c.6549-217A>G 465586812 184507795 20101123_snps_11754042_chr19_38986638 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 85881633 59167126 Cor19129_SNV_20070510.chr19_43678538 6.14e-02 2007.12.10 2007.12.10 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 115120484 59167126 NA19240_2008_12_16_3257600_chr19_43678538 6.14e-02 2008.12.19 2008.12.19 2007.12.15 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 169707466 59167126 NA19240_36_chr19_43678538 6.14e-02 2009.10.01 2009.10.01 2007.12.15 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 203750939 59167126 BUSHMAN-chr19-43678537 6.14e-02 2010.03.09 2010.03.09 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 210946299 59167126 CEU.trio.3.2010_162539_chr19_43678538 6.14e-02 2010.03.29 2010.03.29 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 228135744 59167126 pilot_1_YRI_9945427_chr19_43678538 6.14e-02 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986698C>T;NG_008866.1:g.67359C>T;NM_000540.2:c.6549-157C>T;NM_001042723.1:c.6549-157C>T 237674187 59167126 pilot_1_CEU_7278816_chr19_43678538 6.14e-02 2010.05.01 2010.05.01 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38986810C>T;NG_008866.1:g.67471C>T;NM_000540.2:c.6549-45C>T;NM_001042723.1:c.6549-45C>T 465586813 189170845 20101123_snps_11754043_chr19_38986810 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986810C>T;NG_008866.1:g.67471C>T;NM_000540.2:c.6549-45C>T;NM_001042723.1:c.6549-45C>T 491158011 189170845 20110521_exome_665809_chr19_38986810 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38986810C>T;NG_008866.1:g.67471C>T;NM_000540.2:c.6549-45C>T;NM_001042723.1:c.6549-45C>T 491766187 189170845 SNV-chr19-43678650 5.00e-04 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986815C>A;NG_008866.1:g.67476C>A;NM_000540.2:c.6549-40C>A;NM_001042723.1:c.6549-40C>A 489164467 199756215 20110521_exome_255625_chr19_38986815 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38986853A>G;NC_000019.9:g.38986853A>T;NG_008866.1:g.67514A>G;NG_008866.1:g.67514A>T;NM_000540.2:c.6549-2A>G;NM_000540.2:c.6549-2A>T;NM_001042723.1:c.6549-2A>G;NM_001042723.1:c.6549-2A>T 168988778 113470798 Human1M-Duov3_B_GA016292-0_B_R_1533446494 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38986853A>G;NC_000019.9:g.38986853A>T;NG_008866.1:g.67514A>G;NG_008866.1:g.67514A>T;NM_000540.2:c.6549-2A>G;NM_000540.2:c.6549-2A>T;NM_001042723.1:c.6549-2A>G;NM_001042723.1:c.6549-2A>T 203750940 113470798 BUSHMAN-chr19-43678692 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 NHLBI-ESP 6261 NC_000019.9:g.38986891G>A;NG_008866.1:g.67552G>A;NM_000540.2:c.6585G>A;NM_001042723.1:c.6585G>A;NP_000531.2:p.Pro2195=;NP_001036188.1:p.Pro2195= 342496512 140729728 ESP2500-chr19-38986891 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.6599C>T NC_000019.9:g.38986905C>T;NG_008866.1:g.67566C>T;NM_000540.2:c.6599C>T;NM_001042723.1:c.6599C>T;NP_000531.2:p.Ala2200Val;NP_001036188.1:p.Ala2200Val 475871529 193922791 RYR1_00221 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38986913A>G;NG_008866.1:g.67574A>G;NM_000540.2:c.6607A>G;NM_001042723.1:c.6607A>G;NP_000531.2:p.Met2203Val;NP_001036188.1:p.Met2203Val 491766188 200203904 SNV-chr19-43678753 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986918C>G;NG_008866.1:g.67579C>G;NM_000540.2:c.6612C>G;NM_001042723.1:c.6612C>G;NP_000531.2:p.His2204Gln;NP_001036188.1:p.His2204Gln 340454588 141646642 20100804_snps_12098129_chr19_38986918 2.30e-03 germline untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38986918C>G;NG_008866.1:g.67579C>G;NM_000540.2:c.6612C>G;NM_001042723.1:c.6612C>G;NP_000531.2:p.His2204Gln;NP_001036188.1:p.His2204Gln 342496513 141646642 ESP2500-chr19-38986918 2.30e-03 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6612C>G NC_000019.9:g.38986918C>G;NG_008866.1:g.67579C>G;NM_000540.2:c.6612C>G;NM_001042723.1:c.6612C>G;NP_000531.2:p.His2204Gln;NP_001036188.1:p.His2204Gln 475871530 141646642 RYR1_00257 2.30e-03 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986918C>G;NG_008866.1:g.67579C>G;NM_000540.2:c.6612C>G;NM_001042723.1:c.6612C>G;NP_000531.2:p.His2204Gln;NP_001036188.1:p.His2204Gln 491158012 141646642 20110521_exome_665810_chr19_38986918 2.30e-03 unknown untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986921G>A;NG_008866.1:g.67582G>A;NM_000540.2:c.6615G>A;NM_001042723.1:c.6615G>A;NP_000531.2:p.Glu2205=;NP_001036188.1:p.Glu2205= 465586814 181195904 20101123_snps_11754044_chr19_38986921 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986921G>A;NG_008866.1:g.67582G>A;NM_000540.2:c.6615G>A;NM_001042723.1:c.6615G>A;NP_000531.2:p.Glu2205=;NP_001036188.1:p.Glu2205= 491158013 181195904 20110521_exome_665811_chr19_38986921 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.6617C>T NC_000019.9:g.38986923C>G;NC_000019.9:g.38986923C>T;NG_008866.1:g.67584C>G;NG_008866.1:g.67584C>T;NM_000540.2:c.6617C>G;NM_000540.2:c.6617C>T;NM_001042723.1:c.6617C>G;NM_001042723.1:c.6617C>T;NP_000531.2:p.Thr2206Arg;NP_000531.2:p.Thr2206Met;NP_001036188.1:p.Thr2206Arg;NP_001036188.1:p.Thr2206Met 252444746 118192177 CCORE_88 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.THR2206MET NC_000019.9:g.38986923C>G;NC_000019.9:g.38986923C>T;NG_008866.1:g.67584C>G;NG_008866.1:g.67584C>T;NM_000540.2:c.6617C>G;NM_000540.2:c.6617C>T;NM_001042723.1:c.6617C>G;NM_001042723.1:c.6617C>T;NP_000531.2:p.Thr2206Arg;NP_000531.2:p.Thr2206Met;NP_001036188.1:p.Thr2206Arg;NP_001036188.1:p.Thr2206Met 275518440 118192177 5309 unknown untested 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6617C>G NC_000019.9:g.38986923C>G;NC_000019.9:g.38986923C>T;NG_008866.1:g.67584C>G;NG_008866.1:g.67584C>T;NM_000540.2:c.6617C>G;NM_000540.2:c.6617C>T;NM_001042723.1:c.6617C>G;NM_001042723.1:c.6617C>T;NP_000531.2:p.Thr2206Arg;NP_000531.2:p.Thr2206Met;NP_001036188.1:p.Thr2206Arg;NP_001036188.1:p.Thr2206Met 475871531 118192177 RYR1_00156 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6617C>T NC_000019.9:g.38986923C>G;NC_000019.9:g.38986923C>T;NG_008866.1:g.67584C>G;NG_008866.1:g.67584C>T;NM_000540.2:c.6617C>G;NM_000540.2:c.6617C>T;NM_001042723.1:c.6617C>G;NM_001042723.1:c.6617C>T;NP_000531.2:p.Thr2206Arg;NP_000531.2:p.Thr2206Met;NP_001036188.1:p.Thr2206Arg;NP_001036188.1:p.Thr2206Met 475871532 118192177 RYR1_00094 germline other 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6628G>T NC_000019.9:g.38986934G>T;NG_008866.1:g.67595G>T;NM_000540.2:c.6628G>T;NM_001042723.1:c.6628G>T;NP_000531.2:p.Val2210Phe;NP_001036188.1:p.Val2210Phe 475871533 193922792 RYR1_00204 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.6635T>A NC_000019.9:g.38986941T>A;NC_000019.9:g.38986941T>C;NG_008866.1:g.67602T>A;NG_008866.1:g.67602T>C;NM_000540.2:c.6635T>A;NM_000540.2:c.6635T>C;NM_001042723.1:c.6635T>A;NM_001042723.1:c.6635T>C;NP_000531.2:p.Val2212Ala;NP_000531.2:p.Val2212Asp;NP_001036188.1:p.Val2212Ala;NP_001036188.1:p.Val2212Asp 475871534 193922793 RYR1_00148 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6635T>C NC_000019.9:g.38986941T>A;NC_000019.9:g.38986941T>C;NG_008866.1:g.67602T>A;NG_008866.1:g.67602T>C;NM_000540.2:c.6635T>A;NM_000540.2:c.6635T>C;NM_001042723.1:c.6635T>A;NM_001042723.1:c.6635T>C;NP_000531.2:p.Val2212Ala;NP_000531.2:p.Val2212Asp;NP_001036188.1:p.Val2212Ala;NP_001036188.1:p.Val2212Asp 475871535 193922793 RYR1_00313 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6640G>A NC_000019.9:g.38986946G>A;NG_008866.1:g.67607G>A;NM_000540.2:c.6640G>A;NM_001042723.1:c.6640G>A;NP_000531.2:p.Val2214Ile;NP_001036188.1:p.Val2214Ile 475871536 193922795 RYR1_00200 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38986951C>T;NG_008866.1:g.67612C>T;NM_000540.2:c.6645C>T;NM_001042723.1:c.6645C>T;NP_000531.2:p.Leu2215=;NP_001036188.1:p.Leu2215= 342496514 146617004 ESP2500-chr19-38986951 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986951C>T;NG_008866.1:g.67612C>T;NM_000540.2:c.6645C>T;NM_001042723.1:c.6645C>T;NP_000531.2:p.Leu2215=;NP_001036188.1:p.Leu2215= 489164469 146617004 20110521_exome_255626_chr19_38986951 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38986960C>T;NG_008866.1:g.67621C>T;NM_000540.2:c.6654C>T;NM_001042723.1:c.6654C>T;NP_000531.2:p.Gly2218=;NP_001036188.1:p.Gly2218= 342496515 149185729 ESP2500-chr19-38986960 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38986961G>A;NG_008866.1:g.67622G>A;NM_000540.2:c.6655G>A;NM_001042723.1:c.6655G>A;NP_000531.2:p.Glu2219Lys;NP_001036188.1:p.Glu2219Lys 465586815 185754956 20101123_snps_11754045_chr19_38986961 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38986961G>A;NG_008866.1:g.67622G>A;NM_000540.2:c.6655G>A;NM_001042723.1:c.6655G>A;NP_000531.2:p.Glu2219Lys;NP_001036188.1:p.Glu2219Lys 491158014 185754956 20110521_exome_665812_chr19_38986961 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 117702574 73930595 NA18507_000043879_NCBI36.1_chr19_43678857 4.76e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 203750941 73930595 BUSHMAN-chr19-43678856 4.76e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 211962605 73930595 YRI.trio.3.2010_1440240_chr19_43678857 4.76e-02 2010.03.31 2010.03.31 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 228135745 73930595 pilot_1_YRI_9945428_chr19_43678857 4.76e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 491158015 73930595 20110521_exome_665813_chr19_38987017 4.76e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987017A>G;NG_008866.1:g.67678A>G;NM_000540.2:c.6664-32A>G;NM_001042723.1:c.6664-32A>G 491766189 73930595 SNV-chr19-43678857 4.76e-02 2012.03.07 2012.03.13 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38987046C>A;NC_000019.9:g.38987046C>G;NG_008866.1:g.67707C>A;NG_008866.1:g.67707C>G;NM_000540.2:c.6664-3C>A;NM_000540.2:c.6664-3C>G;NM_001042723.1:c.6664-3C>A;NM_001042723.1:c.6664-3C>G 169117140 112322870 Human1M-Duov3_B_GA034481-0_B_R_1533482056 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38987046C>A;NC_000019.9:g.38987046C>G;NG_008866.1:g.67707C>A;NG_008866.1:g.67707C>G;NM_000540.2:c.6664-3C>A;NM_000540.2:c.6664-3C>G;NM_001042723.1:c.6664-3C>A;NM_001042723.1:c.6664-3C>G 203750942 112322870 BUSHMAN-chr19-43678885 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 LUMC-LOVD 6261 NM_000540.2:c.6669C>T NC_000019.9:g.38987054C>T;NG_008866.1:g.67715C>T;NM_000540.2:c.6669C>T;NM_001042723.1:c.6669C>T;NP_000531.2:p.Ile2223=;NP_001036188.1:p.Ile2223= 475871537 193922796 RYR1_00012 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987055C>T;NG_008866.1:g.67716C>T;NM_000540.2:c.6670C>T;NM_001042723.1:c.6670C>T;NP_000531.2:p.Arg2224Cys;NP_001036188.1:p.Arg2224Cys 491766190 199870223 SNV-chr19-43678895 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987073A>T;NG_008866.1:g.67734A>T;NM_000540.2:c.6688A>T;NM_001042723.1:c.6688A>T;NP_000531.2:p.Thr2230Ser;NP_001036188.1:p.Thr2230Ser 491766191 200630616 SNV-chr19-43678913 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987085C>T;NG_008866.1:g.67746C>T;NM_000540.2:c.6700C>T;NM_001042723.1:c.6700C>T;NP_000531.2:p.Arg2234Cys;NP_001036188.1:p.Arg2234Cys 491766192 201465595 SNV-chr19-43678925 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38987102C>T;NG_008866.1:g.67763C>T;NM_000540.2:c.6717C>T;NM_001042723.1:c.6717C>T;NP_000531.2:p.Phe2239=;NP_001036188.1:p.Phe2239= 342496516 143102497 ESP2500-chr19-38987102 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38987106C>T;NG_008866.1:g.67767C>T;NM_000540.2:c.6721C>T;NM_001042723.1:c.6721C>T;NP_000531.2:p.Arg2241Ter;NP_001036188.1:p.Arg2241Ter 489164471 200563280 20110521_exome_255627_chr19_38987106 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38987106C>T;NG_008866.1:g.67767C>T;NM_000540.2:c.6721C>T;NM_001042723.1:c.6721C>T;NP_000531.2:p.Arg2241Ter;NP_001036188.1:p.Arg2241Ter 491546465 200563280 stopgl_262691_chr_19_38987106 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987106C>T;NG_008866.1:g.67767C>T;NM_000540.2:c.6721C>T;NM_001042723.1:c.6721C>T;NP_000531.2:p.Arg2241Ter;NP_001036188.1:p.Arg2241Ter 491766193 200563280 SNV-chr19-43678946 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987117G>A;NG_008866.1:g.67778G>A;NM_000540.2:c.6732G>A;NM_001042723.1:c.6732G>A;NP_000531.2:p.Arg2244=;NP_001036188.1:p.Arg2244= 228135746 78915828 pilot_1_YRI_9945429_chr19_43678957 2.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38987117G>A;NG_008866.1:g.67778G>A;NM_000540.2:c.6732G>A;NM_001042723.1:c.6732G>A;NP_000531.2:p.Arg2244=;NP_001036188.1:p.Arg2244= 342496517 78915828 ESP2500-chr19-38987117 2.70e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987117G>A;NG_008866.1:g.67778G>A;NM_000540.2:c.6732G>A;NM_001042723.1:c.6732G>A;NP_000531.2:p.Arg2244=;NP_001036188.1:p.Arg2244= 491158016 78915828 20110521_exome_665814_chr19_38987117 2.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38987128G>A;NG_008866.1:g.67789G>A;NM_000540.2:c.6743G>A;NM_001042723.1:c.6743G>A;NP_000531.2:p.Arg2248His;NP_001036188.1:p.Arg2248His 283205973 140152019 GMI_AK_SNP_7526394 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38987128G>A;NG_008866.1:g.67789G>A;NM_000540.2:c.6743G>A;NM_001042723.1:c.6743G>A;NP_000531.2:p.Arg2248His;NP_001036188.1:p.Arg2248His 342496518 140152019 ESP2500-chr19-38987128 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38987138T>C;NG_008866.1:g.67799T>C;NM_000540.2:c.6753T>C;NM_001042723.1:c.6753T>C;NP_000531.2:p.Phe2251=;NP_001036188.1:p.Phe2251= 342496519 146931341 ESP2500-chr19-38987138 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.38987174C>T;NG_008866.1:g.67835C>T;NM_000540.2:c.6789C>T;NM_001042723.1:c.6789C>T;NP_000531.2:p.Ile2263=;NP_001036188.1:p.Ile2263= 203750943 112051106 BUSHMAN-chr19-43679013 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38987208T>C;NG_008866.1:g.67869T>C;NM_000540.2:c.6796+27T>C;NM_001042723.1:c.6796+27T>C 489164473 200091381 20110521_exome_255628_chr19_38987208 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38987208T>C;NG_008866.1:g.67869T>C;NM_000540.2:c.6796+27T>C;NM_001042723.1:c.6796+27T>C 491766194 200091381 SNV-chr19-43679048 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987311A>C;NG_008866.1:g.67972A>C;NM_000540.2:c.6796+130A>C;NM_001042723.1:c.6796+130A>C 465586816 189337163 20101123_snps_11754046_chr19_38987311 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38987313G>C;NG_008866.1:g.67974G>C;NM_000540.2:c.6796+132G>C;NM_001042723.1:c.6796+132G>C 228135747 78549624 pilot_1_YRI_9945430_chr19_43679153 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38987329A>C;NG_008866.1:g.67990A>C;NM_000540.2:c.6796+148A>C;NM_001042723.1:c.6796+148A>C 465586817 180865986 20101123_snps_11754047_chr19_38987329 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38987372T>C;NG_008866.1:g.68033T>C;NM_000540.2:c.6797-128T>C;NM_001042723.1:c.6797-128T>C 340454589 150503196 20100804_snps_12098130_chr19_38987372 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38987401C>T;NG_008866.1:g.68062C>T;NM_000540.2:c.6797-99C>T;NM_001042723.1:c.6797-99C>T 340454590 140266497 20100804_snps_12098131_chr19_38987401 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38987421A>G;NG_008866.1:g.68082A>G;NM_000540.2:c.6797-79A>G;NM_001042723.1:c.6797-79A>G 465586818 187220021 20101123_snps_11754048_chr19_38987421 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.38987450A>G;NG_008866.1:g.68111A>G;NM_000540.2:c.6797-50A>G;NM_001042723.1:c.6797-50A>G 41019596 34812626 hCV32823860 6.90e-03 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38987450A>G;NG_008866.1:g.68111A>G;NM_000540.2:c.6797-50A>G;NM_001042723.1:c.6797-50A>G 161878501 34812626 ENSSNP1527914 6.90e-03 2009.09.26 2010.03.07 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987450A>G;NG_008866.1:g.68111A>G;NM_000540.2:c.6797-50A>G;NM_001042723.1:c.6797-50A>G 340454591 34812626 20100804_snps_12098132_chr19_38987450 6.90e-03 2011.03.22 2011.03.22 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987450A>G;NG_008866.1:g.68111A>G;NM_000540.2:c.6797-50A>G;NM_001042723.1:c.6797-50A>G 491158017 34812626 20110521_exome_665815_chr19_38987450 6.90e-03 2012.02.22 2012.02.22 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987491C>T;NG_008866.1:g.68152C>T;NM_000540.2:c.6797-9C>T;NM_001042723.1:c.6797-9C>T 465586819 191934693 20101123_snps_11754049_chr19_38987491 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38987516G>A;NG_008866.1:g.68177G>A;NM_000540.2:c.6813G>A;NM_001042723.1:c.6813G>A;NP_000531.2:p.Thr2271=;NP_001036188.1:p.Thr2271= 340454592 147786842 20100804_snps_12098133_chr19_38987516 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987516G>A;NG_008866.1:g.68177G>A;NM_000540.2:c.6813G>A;NM_001042723.1:c.6813G>A;NP_000531.2:p.Thr2271=;NP_001036188.1:p.Thr2271= 491158018 147786842 20110521_exome_665816_chr19_38987516 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987540C>T;NG_008866.1:g.68201C>T;NM_000540.2:c.6837C>T;NM_001042723.1:c.6837C>T;NP_000531.2:p.Ser2279=;NP_001036188.1:p.Ser2279= 489164475 201803186 20110521_exome_255629_chr19_38987540 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6838G>A NC_000019.9:g.38987541G>A;NG_008866.1:g.68202G>A;NM_000540.2:c.6838G>A;NM_001042723.1:c.6838G>A;NP_000531.2:p.Val2280Ile;NP_001036188.1:p.Val2280Ile 475871538 193922797 RYR1_00173 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.6847A>C NC_000019.9:g.38987550A>C;NG_008866.1:g.68211A>C;NM_000540.2:c.6847A>C;NM_001042723.1:c.6847A>C;NP_000531.2:p.Asn2283His;NP_001036188.1:p.Asn2283His 252444689 118192121 CCORE_12 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6847A>C NC_000019.9:g.38987550A>C;NG_008866.1:g.68211A>C;NM_000540.2:c.6847A>C;NM_001042723.1:c.6847A>C;NP_000531.2:p.Asn2283His;NP_001036188.1:p.Asn2283His 475871539 118192121 RYR1_00283 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987638G>A;NG_008866.1:g.68299G>A;NM_000540.2:c.6891+44G>A;NM_001042723.1:c.6891+44G>A 340454593 140924621 20100804_snps_12098134_chr19_38987638 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987638G>A;NG_008866.1:g.68299G>A;NM_000540.2:c.6891+44G>A;NM_001042723.1:c.6891+44G>A 491158019 140924621 20110521_exome_665817_chr19_38987638 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987793G>A;NG_008866.1:g.68454G>A;NM_000540.2:c.6891+199G>A;NM_001042723.1:c.6891+199G>A 228135748 78198817 pilot_1_YRI_9945431_chr19_43679633 3.16e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38987793G>A;NG_008866.1:g.68454G>A;NM_000540.2:c.6891+199G>A;NM_001042723.1:c.6891+199G>A 237674188 78198817 pilot_1_CEU_7278817_chr19_43679633 3.16e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38987793G>A;NG_008866.1:g.68454G>A;NM_000540.2:c.6891+199G>A;NM_001042723.1:c.6891+199G>A 243880968 78198817 pilot_1_CHB+JPT_5766045_chr19_43679633 3.16e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38987806C>T;NG_008866.1:g.68467C>T;NM_000540.2:c.6891+212C>T;NM_001042723.1:c.6891+212C>T 237674189 79172185 pilot_1_CEU_7278818_chr19_43679646 9.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987815T>G;NG_008866.1:g.68476T>G;NM_000540.2:c.6891+221T>G;NM_001042723.1:c.6891+221T>G 465586820 184239110 20101123_snps_11754050_chr19_38987815 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38987816C>A;NG_008866.1:g.68477C>A;NM_000540.2:c.6891+222C>A;NM_001042723.1:c.6891+222C>A 340454594 80007783 20100804_snps_12098135_chr19_38987816 3.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987845G>C;NG_008866.1:g.68506G>C;NM_000540.2:c.6891+251G>C;NM_001042723.1:c.6891+251G>C 243880969 116989106 pilot_1_CHB+JPT_5766046_chr19_43679685 4.40e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 17615876 11879442 CSHL-HuCC-200402.chr19.NT_011109.15_11256084 2.19e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 40979621 11879442 hCV7821698 2.19e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 84672139 11879442 Cor19240_SNV_20070510.chr19_43679706 2.19e-01 2007.12.07 2007.12.07 2004.02.28 2012.11.28 137 BGI 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 103437737 11879442 BGI_rs11879442 2.19e-01 2008.06.06 2009.06.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 117702577 11879442 NA18507_000043880_NCBI36.1_chr19_43679706 2.19e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 161878502 11879442 ENSSNP1527915 2.19e-01 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 168183063 11879442 NA07022_36_chr19_43679706 2.19e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 203750944 11879442 BUSHMAN-chr19-43679705 2.19e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 211962607 11879442 YRI.trio.3.2010_1440241_chr19_43679706 2.19e-01 2010.03.31 2010.03.31 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 228135749 11879442 pilot_1_YRI_9945432_chr19_43679706 2.19e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 243880970 11879442 pilot_1_CHB+JPT_5766047_chr19_43679706 2.19e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 283205974 11879442 GMI_AK_SNP_7526395 2.19e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 483825963 11879442 HumanOmni2.5-4v1_B_SNP19-43679706-0_T_R_1628597870 2.19e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38987866T>G;NG_008866.1:g.68527T>G;NM_000540.2:c.6891+272T>G;NM_001042723.1:c.6891+272T>G 484373072 11879442 HumanOmni2.5-4v1_D_kgp9980514-0_T_R_1816065944 2.19e-01 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38987927A>C;NG_008866.1:g.68588A>C;NM_000540.2:c.6891+333A>C;NM_001042723.1:c.6891+333A>C 117702579 73930596 NA18507_000043881_NCBI36.1_chr19_43679767 1.47e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987927A>C;NG_008866.1:g.68588A>C;NM_000540.2:c.6891+333A>C;NM_001042723.1:c.6891+333A>C 228135750 73930596 pilot_1_YRI_9945433_chr19_43679767 1.47e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38987933C>T;NG_008866.1:g.68594C>T;NM_000540.2:c.6891+339C>T;NM_001042723.1:c.6891+339C>T 465586821 185782371 20101123_snps_11754051_chr19_38987933 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38988005C>T;NG_008866.1:g.68666C>T;NM_000540.2:c.6891+411C>T;NM_001042723.1:c.6891+411C>T 228135751 115749148 pilot_1_YRI_9945434_chr19_43679845 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38988013C>T;NG_008866.1:g.68674C>T;NM_000540.2:c.6891+419C>T;NM_001042723.1:c.6891+419C>T 465586822 190640252 20101123_snps_11754052_chr19_38988013 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38988026A>G;NG_008866.1:g.68687A>G;NM_000540.2:c.6891+432A>G;NM_001042723.1:c.6891+432A>G 228135752 114196708 pilot_1_YRI_9945435_chr19_43679866 4.90e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38988026A>G;NG_008866.1:g.68687A>G;NM_000540.2:c.6891+432A>G;NM_001042723.1:c.6891+432A>G 283205975 114196708 GMI_AK_SNP_7526396 4.90e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988026A>G;NG_008866.1:g.68687A>G;NM_000540.2:c.6891+432A>G;NM_001042723.1:c.6891+432A>G 483453683 114196708 HumanOmni2.5-4v1_D_kgp496749-0_T_F_1816514290 4.90e-02 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988026A>G;NG_008866.1:g.68687A>G;NM_000540.2:c.6891+432A>G;NM_001042723.1:c.6891+432A>G 483825965 114196708 HumanOmni2.5-4v1_B_SNP19-43679866-0_T_F_1624407882 4.90e-02 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988039G>A;NG_008866.1:g.68700G>A;NM_000540.2:c.6891+445G>A;NM_001042723.1:c.6891+445G>A 228135753 80283299 pilot_1_YRI_9945436_chr19_43679879 5.27e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988039G>A;NG_008866.1:g.68700G>A;NM_000540.2:c.6891+445G>A;NM_001042723.1:c.6891+445G>A 243880971 80283299 pilot_1_CHB+JPT_5766048_chr19_43679879 5.27e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38988039G>A;NG_008866.1:g.68700G>A;NM_000540.2:c.6891+445G>A;NM_001042723.1:c.6891+445G>A 283205976 80283299 GMI_AK_SNP_7526397 5.27e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988039G>A;NG_008866.1:g.68700G>A;NM_000540.2:c.6891+445G>A;NM_001042723.1:c.6891+445G>A 483083092 80283299 HumanOmni2.5-4v1_D_kgp2960135-0_B_R_1816259929 5.27e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988039G>A;NG_008866.1:g.68700G>A;NM_000540.2:c.6891+445G>A;NM_001042723.1:c.6891+445G>A 483825966 80283299 HumanOmni2.5-4v1_B_SNP19-43679879-0_B_R_1635700670 5.27e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38988095G>T;NG_008866.1:g.68756G>T;NM_000540.2:c.6891+501G>T;NM_001042723.1:c.6891+501G>T 19009126 12373548 SC-CHR9-12_NA07340-200402.chr19.NT_011109.15_11256313 3.89e-02 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988095G>T;NG_008866.1:g.68756G>T;NM_000540.2:c.6891+501G>T;NM_001042723.1:c.6891+501G>T 160053970 12373548 HumanOmni1-Quad_v1-0_B_rs12373548-128_T_R_1572944238 3.89e-02 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988095G>T;NG_008866.1:g.68756G>T;NM_000540.2:c.6891+501G>T;NM_001042723.1:c.6891+501G>T 228135754 12373548 pilot_1_YRI_9945437_chr19_43679935 3.89e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988095G>T;NG_008866.1:g.68756G>T;NM_000540.2:c.6891+501G>T;NM_001042723.1:c.6891+501G>T 480281372 12373548 HumanOmni1-Quad_v1-0_C_rs12373548-131_T_R_1863678765 3.89e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38988106G>A;NG_008866.1:g.68767G>A;NM_000540.2:c.6891+512G>A;NM_001042723.1:c.6891+512G>A 78028023 55833190 Cor12878_SNV_20070510.chr19_43679946 2007.10.17 2007.10.17 2007.12.06 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38988219G>A;NG_008866.1:g.68880G>A;NM_000540.2:c.6891+625G>A;NM_001042723.1:c.6891+625G>A 340454595 145887237 20100804_snps_12098136_chr19_38988219 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38988225G>A;NG_008866.1:g.68886G>A;NM_000540.2:c.6891+631G>A;NM_001042723.1:c.6891+631G>A 465586823 182417190 20101123_snps_11754053_chr19_38988225 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38988275A>G;NG_008866.1:g.68936A>G;NM_000540.2:c.6891+681A>G;NM_001042723.1:c.6891+681A>G 465586824 187097620 20101123_snps_11754054_chr19_38988275 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38988312A>T;NG_008866.1:g.68973A>T;NM_000540.2:c.6891+718A>T;NM_001042723.1:c.6891+718A>T 228135755 76462598 pilot_1_YRI_9945438_chr19_43680152 3.75e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38988312A>T;NG_008866.1:g.68973A>T;NM_000540.2:c.6891+718A>T;NM_001042723.1:c.6891+718A>T 237674190 76462598 pilot_1_CEU_7278819_chr19_43680152 3.75e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 1462587 1002072 TSC0036387 2.56e-02 2000.09.07 2003.10.10 2000.10.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 40987355 1002072 hCV26218830 2.56e-02 2005.07.17 2005.07.17 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 74995994 1002072 ILMN_Human_1M_rs1002072 2.56e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 119377548 1002072 KHS1539795 2.56e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 169521400 1002072 Human1M-Duov3_B_rs1002072-128_T_F_1513950447 2.56e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 203750945 1002072 BUSHMAN-chr19-43680191 2.56e-02 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 228135756 1002072 pilot_1_YRI_9945439_chr19_43680192 2.56e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988352A>G;NG_008866.1:g.69013A>G;NM_000540.2:c.6891+758A>G;NM_001042723.1:c.6891+758A>G 243880972 1002072 pilot_1_CHB+JPT_5766049_chr19_43680192 2.56e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38988371T>C;NG_008866.1:g.69032T>C;NM_000540.2:c.6891+777T>C;NM_001042723.1:c.6891+777T>C 203750946 113637763 BUSHMAN-chr19-43680210 1.05e-01 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38988371T>C;NG_008866.1:g.69032T>C;NM_000540.2:c.6891+777T>C;NM_001042723.1:c.6891+777T>C 208488084 113637763 BCM_CMT_1011-3120131 1.05e-01 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988371T>C;NG_008866.1:g.69032T>C;NM_000540.2:c.6891+777T>C;NM_001042723.1:c.6891+777T>C 237674191 113637763 pilot_1_CEU_7278820_chr19_43680211 1.05e-01 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38988371T>C;NG_008866.1:g.69032T>C;NM_000540.2:c.6891+777T>C;NM_001042723.1:c.6891+777T>C 283205977 113637763 GMI_AK_SNP_7526398 1.05e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38988372G>A;NG_008866.1:g.69033G>A;NM_000540.2:c.6891+778G>A;NM_001042723.1:c.6891+778G>A 283205978 149003326 GMI_AK_SNP_7526399 1.40e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988372G>A;NG_008866.1:g.69033G>A;NM_000540.2:c.6891+778G>A;NM_001042723.1:c.6891+778G>A 340454596 149003326 20100804_snps_12098137_chr19_38988372 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988377G>A;NG_008866.1:g.69038G>A;NM_000540.2:c.6891+783G>A;NM_001042723.1:c.6891+783G>A 340454597 143672414 20100804_snps_12098138_chr19_38988377 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38988532T>C;NG_008866.1:g.69193T>C;NM_000540.2:c.6891+938T>C;NM_001042723.1:c.6891+938T>C 465586825 192537313 20101123_snps_11754055_chr19_38988532 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38988545G>A;NG_008866.1:g.69206G>A;NM_000540.2:c.6891+951G>A;NM_001042723.1:c.6891+951G>A 168183071 112801907 NA07022_36_chr19_43680385 1.56e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988545G>A;NG_008866.1:g.69206G>A;NM_000540.2:c.6891+951G>A;NM_001042723.1:c.6891+951G>A 237674192 112801907 pilot_1_CEU_7278821_chr19_43680385 1.56e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 3096452 2163822 TSC1196536 3.17e-01 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 5703029 2163822 NT_011233.10_1143563 3.17e-01 2003.01.10 2003.10.10 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 41046219 2163822 hCV7821693 3.17e-01 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 84735242 2163822 Cor19240_SNV_20070510.chr19_43680407 3.17e-01 2007.12.07 2007.12.07 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 90969895 2163822 JWB-1168184 3.17e-01 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 96305679 2163822 1103691141825 3.17e-01 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 103437738 2163822 BGI_rs2163822 3.17e-01 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 111365649 2163822 CEU.trio.12.15.2008_3616642_chr19_43680407 3.17e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 117702581 2163822 NA18507_000043882_NCBI36.1_chr19_43680407 3.17e-01 2009.01.20 2009.01.20 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 136267519 2163822 ENSSNP1527916 3.17e-01 2009.05.15 2009.10.15 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 137670327 2163822 ENSSNP11444314 3.17e-01 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 168183087 2163822 NA07022_36_chr19_43680407 3.17e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 169707489 2163822 NA19240_36_chr19_43680407 3.17e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 203750947 2163822 BUSHMAN-chr19-43680406 3.17e-01 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 211962609 2163822 YRI.trio.3.2010_1440242_chr19_43680407 3.17e-01 2010.03.31 2010.03.31 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 228135757 2163822 pilot_1_YRI_9945440_chr19_43680407 3.17e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 237674193 2163822 pilot_1_CEU_7278822_chr19_43680407 3.17e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 243880973 2163822 pilot_1_CHB+JPT_5766050_chr19_43680407 3.17e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 283205979 2163822 GMI_AK_SNP_7526400 3.17e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38988567G>A;NG_008866.1:g.69228G>A;NM_000540.2:c.6891+973G>A;NM_001042723.1:c.6891+973G>A 292248498 2163822 SNP_1754856_chr19_43680407 3.17e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988570A>T;NG_008866.1:g.69231A>T;NM_000540.2:c.6891+976A>T;NM_001042723.1:c.6891+976A>T 465586826 182622382 20101123_snps_11754056_chr19_38988570 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 6261 NC_000019.9:g.38988586C>G;NG_008866.1:g.69247C>G;NM_000540.2:c.6891+992C>G;NM_001042723.1:c.6891+992C>G 137670331 75762793 ENSSNP11444315 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38988697C>G;NG_008866.1:g.69358C>G;NM_000540.2:c.6892-1051C>G;NM_001042723.1:c.6892-1051C>G 340454599 141186676 20100804_snps_12098140_chr19_38988697 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 111365657 73030976 CEU.trio.12.15.2008_3616643_chr19_43680670 1.18e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 117702583 73030976 NA18507_000043883_NCBI36.1_chr19_43680670 1.18e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 203750948 73030976 BUSHMAN-chr19-43680669 1.18e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 208472725 73030976 BCM_CMT_1011-3115099 1.18e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 228135758 73030976 pilot_1_YRI_9945441_chr19_43680670 1.18e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 237674194 73030976 pilot_1_CEU_7278823_chr19_43680670 1.18e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 243880974 73030976 pilot_1_CHB+JPT_5766051_chr19_43680670 1.18e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 283205980 73030976 GMI_AK_SNP_7526401 1.18e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 483825968 73030976 HumanOmni2.5-4v1_B_SNP19-43680670-0_T_F_1622838909 1.18e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988830G>A;NG_008866.1:g.69491G>A;NM_000540.2:c.6892-918G>A;NM_001042723.1:c.6892-918G>A 484357220 73030976 HumanOmni2.5-4v1_D_kgp9892955-0_T_F_1816477239 1.18e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 111365665 73030978 CEU.trio.12.15.2008_3616644_chr19_43680687 1.18e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 117702585 73030978 NA18507_000043884_NCBI36.1_chr19_43680687 1.18e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 203750949 73030978 BUSHMAN-chr19-43680686 1.18e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 208428235 73030978 BCM_CMT_1011-3100285 1.18e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 228135759 73030978 pilot_1_YRI_9945442_chr19_43680687 1.18e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 237674195 73030978 pilot_1_CEU_7278824_chr19_43680687 1.18e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 243880975 73030978 pilot_1_CHB+JPT_5766052_chr19_43680687 1.18e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.38988847G>A;NG_008866.1:g.69508G>A;NM_000540.2:c.6892-901G>A;NM_001042723.1:c.6892-901G>A 283205981 73030978 GMI_AK_SNP_7526402 1.18e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988867A>T;NG_008866.1:g.69528A>T;NM_000540.2:c.6892-881A>T;NM_001042723.1:c.6892-881A>T 228135760 74890623 pilot_1_YRI_9945443_chr19_43680707 3.80e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38988867A>T;NG_008866.1:g.69528A>T;NM_000540.2:c.6892-881A>T;NM_001042723.1:c.6892-881A>T 237674196 74890623 pilot_1_CEU_7278825_chr19_43680707 3.80e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988867A>T;NG_008866.1:g.69528A>T;NM_000540.2:c.6892-881A>T;NM_001042723.1:c.6892-881A>T 483825970 74890623 HumanOmni2.5-4v1_B_SNP19-43680707-0_B_R_1628401900 3.80e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38988867A>T;NG_008866.1:g.69528A>T;NM_000540.2:c.6892-881A>T;NM_001042723.1:c.6892-881A>T 484253378 74890623 HumanOmni2.5-4v1_D_kgp932796-0_B_R_1816075526 3.80e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989016G>A;NG_008866.1:g.69677G>A;NM_000540.2:c.6892-732G>A;NM_001042723.1:c.6892-732G>A 465586827 188038581 20101123_snps_11754057_chr19_38989016 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.38989023G>A;NG_008866.1:g.69684G>A;NM_000540.2:c.6892-725G>A;NM_001042723.1:c.6892-725G>A 117702587 73930600 NA18507_000043885_NCBI36.1_chr19_43680863 1.51e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989023G>A;NG_008866.1:g.69684G>A;NM_000540.2:c.6892-725G>A;NM_001042723.1:c.6892-725G>A 228135761 73930600 pilot_1_YRI_9945444_chr19_43680863 1.51e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989023G>A;NG_008866.1:g.69684G>A;NM_000540.2:c.6892-725G>A;NM_001042723.1:c.6892-725G>A 482320460 73930600 HumanOmni2.5-4v1_D_kgp21354241-0_B_R_1844060785 1.51e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989023G>A;NG_008866.1:g.69684G>A;NM_000540.2:c.6892-725G>A;NM_001042723.1:c.6892-725G>A 483825972 73930600 HumanOmni2.5-4v1_B_SNP19-43680863-0_B_R_1647607376 1.51e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 BGI 6261 NC_000019.9:g.38989221G>T;NG_008866.1:g.69882G>T;NM_000540.2:c.6892-527G>T;NM_001042723.1:c.6892-527G>T 103222882 74185724 BGI_rs12437752 2008.06.05 2009.06.18 2009.02.20 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38989221G>T;NG_008866.1:g.69882G>T;NM_000540.2:c.6892-527G>T;NM_001042723.1:c.6892-527G>T 134202849 74185724 ENSSNP10963722 2009.05.13 2009.05.15 2009.02.20 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38989221G>T;NG_008866.1:g.69882G>T;NM_000540.2:c.6892-527G>T;NM_001042723.1:c.6892-527G>T 136934496 74185724 ENSSNP1077745 2009.05.15 2009.10.15 2009.02.20 2011.09.09 137 ABI 6261 NC_000019.9:g.38989241_38989242insA;NG_008866.1:g.69902_69903insA;NM_000540.2:c.6892-507_6892-506insA;NM_001042723.1:c.6892-507_6892-506insA 41041995 34806754 hCV32823861 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ILLUMINA-UK 6261 NC_000019.9:g.38989265G>A;NG_008866.1:g.69926G>A;NM_000540.2:c.6892-483G>A;NM_001042723.1:c.6892-483G>A 117702589 80241095 NA18507_000043886_NCBI36.1_chr19_43681105 2009.01.20 2009.01.20 2009.12.01 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38989280G>T;NG_008866.1:g.69941G>T;NM_000540.2:c.6892-468G>T;NM_001042723.1:c.6892-468G>T 90969896 62118997 JWB-2965863 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38989357C>T;NG_008866.1:g.70018C>T;NM_000540.2:c.6892-391C>T;NM_001042723.1:c.6892-391C>T 465586828 193053709 20101123_snps_11754058_chr19_38989357 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38989450C>T;NG_008866.1:g.70111C>T;NM_000540.2:c.6892-298C>T;NM_001042723.1:c.6892-298C>T 340454600 145060954 20100804_snps_12098141_chr19_38989450 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38989470G>A;NG_008866.1:g.70131G>A;NM_000540.2:c.6892-278G>A;NM_001042723.1:c.6892-278G>A 465586829 185037638 20101123_snps_11754059_chr19_38989470 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38989659_38989663delGCAGG;NG_008866.1:g.70320_70324delGCAGG;NM_000540.2:c.6892-89_6892-85delGCAGG;NM_001042723.1:c.6892-89_6892-85delGCAGG 328276235 138398264 YRI_chr19_43681498_indel 6.59e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989659G>A;NG_008866.1:g.70320G>A;NM_000540.2:c.6892-89G>A;NM_001042723.1:c.6892-89G>A 465586830 188930458 20101123_snps_11754060_chr19_38989659 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38989659_38989663delGCAGG;NG_008866.1:g.70320_70324delGCAGG;NM_000540.2:c.6892-89_6892-85delGCAGG;NM_001042723.1:c.6892-89_6892-85delGCAGG 499576309 138398264 20110316_indels_chr19_38989658_38989662 6.59e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38989662delG;NC_000019.9:g.38989662delGinsGGGCA;NG_008866.1:g.70323delG;NG_008866.1:g.70323delGinsGGGCA;NM_000540.2:c.6892-86delG;NM_000540.2:c.6892-86delGinsGGGCA;NM_001042723.1:c.6892-86delG;NM_001042723.1:c.6892-86delGinsGGGCA 100448664 71960836 INDEL_GP36_2008a_2099068_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.38989663_38989667delGGCAG;NG_008866.1:g.70324_70328delGGCAG;NM_000540.2:c.6892-85_6892-81delGGCAG;NM_001042723.1:c.6892-85_6892-81delGGCAG 5028947 3842417 IMS-JST188192 2002.08.12 2003.10.10 2002.08.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.38989663_38989667delGGCAG;NG_008866.1:g.70324_70328delGGCAG;NM_000540.2:c.6892-85_6892-81delGGCAG;NM_001042723.1:c.6892-85_6892-81delGGCAG 80434895 3842417 Cor18507_DIV_20070510.chr19_43681517-43681523_1 2007.11.25 2007.11.25 2002.08.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38989737T>C;NG_008866.1:g.70398T>C;NM_000540.2:c.6892-11T>C;NM_001042723.1:c.6892-11T>C 340454601 138843395 20100804_snps_12098142_chr19_38989737 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989737T>C;NG_008866.1:g.70398T>C;NM_000540.2:c.6892-11T>C;NM_001042723.1:c.6892-11T>C 491158020 138843395 20110521_exome_665818_chr19_38989737 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38989788C>T;NG_008866.1:g.70449C>T;NM_000540.2:c.6932C>T;NM_001042723.1:c.6932C>T;NP_000531.2:p.Pro2311Leu;NP_001036188.1:p.Pro2311Leu 342496520 137871773 ESP2500-chr19-38989788 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 48401749 34390345 hCV25630438 5.00e-04 unknown untested 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 342496521 34390345 ESP2500-chr19-38989817 5.00e-04 unknown untested 2011.03.27 2011.03.27 2006.03.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.6961A>G NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 475871540 34390345 RYR1_00143 5.00e-04 unknown untested 2011.11.25 2011.11.25 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 489164477 34390345 20110521_exome_255630_chr19_38989817 5.00e-04 germline untested 2012.02.14 2012.02.14 2006.03.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 491546466 34390345 nonsyn_262692_chr_19_38989817 5.00e-04 unknown untested 2012.03.06 2012.03.06 2006.03.14 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38989817A>G;NG_008866.1:g.70478A>G;NM_000540.2:c.6961A>G;NM_001042723.1:c.6961A>G;NP_000531.2:p.Ile2321Val;NP_001036188.1:p.Ile2321Val 491766195 34390345 SNV-chr19-43681657 5.00e-04 unknown untested 2012.03.07 2012.03.13 2006.03.14 2012.11.28 137 POPS 6261 NC_000019.9:g.38989863G>A;NG_008866.1:g.70524G>A;NM_000540.2:c.7007G>A;NM_001042723.1:c.7007G>A;NP_000531.2:p.Arg2336His;NP_001036188.1:p.Arg2336His 182258908 112563513 MHY8 germline untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7007G>A NC_000019.9:g.38989863G>A;NG_008866.1:g.70524G>A;NM_000540.2:c.7007G>A;NM_001042723.1:c.7007G>A;NP_000531.2:p.Arg2336His;NP_001036188.1:p.Arg2336His 475871541 112563513 RYR1_00095 unknown untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989876C>T;NG_008866.1:g.70537C>T;NM_000540.2:c.7020C>T;NM_001042723.1:c.7020C>T;NP_000531.2:p.Phe2340=;NP_001036188.1:p.Phe2340= 489164479 199993301 20110521_exome_255631_chr19_38989876 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38989881A>G;NG_008866.1:g.70542A>G;NM_000540.2:c.7025A>G;NM_001042723.1:c.7025A>G;NP_000531.2:p.Asn2342Ser;NP_001036188.1:p.Asn2342Ser 342496522 147213895 ESP2500-chr19-38989881 5.00e-04 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7025A>G NC_000019.9:g.38989881A>G;NG_008866.1:g.70542A>G;NM_000540.2:c.7025A>G;NM_001042723.1:c.7025A>G;NP_000531.2:p.Asn2342Ser;NP_001036188.1:p.Asn2342Ser 475871542 147213895 RYR1_00096 5.00e-04 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989881A>G;NG_008866.1:g.70542A>G;NM_000540.2:c.7025A>G;NM_001042723.1:c.7025A>G;NP_000531.2:p.Asn2342Ser;NP_001036188.1:p.Asn2342Ser 489164482 147213895 20110521_exome_255632_chr19_38989881 5.00e-04 germline untested 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38989881A>G;NG_008866.1:g.70542A>G;NM_000540.2:c.7025A>G;NM_001042723.1:c.7025A>G;NP_000531.2:p.Asn2342Ser;NP_001036188.1:p.Asn2342Ser 491546467 147213895 nonsyn_262693_chr_19_38989881 5.00e-04 unknown untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38989881A>G;NG_008866.1:g.70542A>G;NM_000540.2:c.7025A>G;NM_001042723.1:c.7025A>G;NP_000531.2:p.Asn2342Ser;NP_001036188.1:p.Asn2342Ser 491766196 147213895 SNV-chr19-43681721 5.00e-04 germline untested 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38989882C>T;NG_008866.1:g.70543C>T;NM_000540.2:c.7026C>T;NM_001042723.1:c.7026C>T;NP_000531.2:p.Asn2342=;NP_001036188.1:p.Asn2342= 491546468 202061237 splice_262694_chr_19_38989882 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38989882C>T;NG_008866.1:g.70543C>T;NM_000540.2:c.7026C>T;NM_001042723.1:c.7026C>T;NP_000531.2:p.Asn2342=;NP_001036188.1:p.Asn2342= 491766197 202061237 SNV-chr19-43681722 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38989910C>T;NG_008866.1:g.70571C>T;NM_000540.2:c.7027+27C>T;NM_001042723.1:c.7027+27C>T 4931871 3745851 IMS-JST097349 2.47e-02 germline untested 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38989910C>T;NG_008866.1:g.70571C>T;NM_000540.2:c.7027+27C>T;NM_001042723.1:c.7027+27C>T 283205982 3745851 GMI_AK_SNP_7526403 2.47e-02 germline untested 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989910C>T;NG_008866.1:g.70571C>T;NM_000540.2:c.7027+27C>T;NM_001042723.1:c.7027+27C>T 340454602 3745851 20100804_snps_12098143_chr19_38989910 2.47e-02 germline untested 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7027+27C>T NC_000019.9:g.38989910C>T;NG_008866.1:g.70571C>T;NM_000540.2:c.7027+27C>T;NM_001042723.1:c.7027+27C>T 475871543 3745851 RYR1_00351 2.47e-02 unknown untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989910C>T;NG_008866.1:g.70571C>T;NM_000540.2:c.7027+27C>T;NM_001042723.1:c.7027+27C>T 491158021 3745851 20110521_exome_665819_chr19_38989910 2.47e-02 germline untested 2012.02.22 2012.02.22 2002.08.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 4931872 3745852 IMS-JST097350 2.38e-02 germline untested 2002.08.01 2006.10.25 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 75167865 3745852 ILMN_Human_1M_rs3745852 2.38e-02 germline untested 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 119459085 3745852 KHS1621332 2.38e-02 germline untested 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 160635334 3745852 HumanOmni1-Quad_v1-0_B_rs3745852-128_T_F_1514139968 2.38e-02 germline untested 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 173620765 3745852 Human1M-Duov3_B_rs3745852-128_T_F_1514139968 2.38e-02 germline untested 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 340454603 3745852 20100804_snps_12098144_chr19_38989946 2.38e-02 germline untested 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7027+63G>A NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 475871544 3745852 RYR1_00350 2.38e-02 germline untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 480811944 3745852 HumanOmni2.5-4v1_B_rs3745852-128_T_F_1773492714 2.38e-02 unknown untested 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 480827559 3745852 HumanOmniExpress-12v1_C_rs3745852-131_T_F_1857473184 2.38e-02 germline untested 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 481756151 3745852 HumanOmni1-Quad_v1-0_C_rs3745852-131_T_F_1865568188 2.38e-02 unknown untested 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38989946G>A;NG_008866.1:g.70607G>A;NM_000540.2:c.7027+63G>A;NM_001042723.1:c.7027+63G>A 485200761 3745852 HumanOmni2.5-4v1_D_rs3745852-131_T_F_1857473184 2.38e-02 germline untested 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38990085_38990129del45;NG_008866.1:g.70746_70790del45;NM_000540.2:c.7028-190_7028-146del45;NM_001042723.1:c.7028-190_7028-146del45 5019776 3833267 IMS-JST097351 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 111365673 73030980 CEU.trio.12.15.2008_3616645_chr19_43681986 1.19e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 117702591 73030980 NA18507_000043887_NCBI36.1_chr19_43681986 1.19e-01 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 203750950 73030980 BUSHMAN-chr19-43681985 1.19e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 208501544 73030980 BCM_CMT_1011-3124848 1.19e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 228135765 73030980 pilot_1_YRI_9945448_chr19_43681986 1.19e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 237674197 73030980 pilot_1_CEU_7278826_chr19_43681986 1.19e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 243880976 73030980 pilot_1_CHB+JPT_5766053_chr19_43681986 1.19e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 483825975 73030980 HumanOmni2.5-4v1_B_SNP19-43681986-0_T_R_1613165970 1.19e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990146C>T;NG_008866.1:g.70807C>T;NM_000540.2:c.7028-129C>T;NM_001042723.1:c.7028-129C>T 483844312 73030980 HumanOmni2.5-4v1_D_kgp708608-0_T_R_1815991021 1.19e-01 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990267G>A;NG_008866.1:g.70928G>A;NM_000540.2:c.7028-8G>A;NM_001042723.1:c.7028-8G>A 340454609 147390699 20100804_snps_12098150_chr19_38990267 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990267G>A;NG_008866.1:g.70928G>A;NM_000540.2:c.7028-8G>A;NM_001042723.1:c.7028-8G>A 491158022 147390699 20110521_exome_665820_chr19_38990267 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990276C>T;NG_008866.1:g.70937C>T;NM_000540.2:c.7029C>T;NM_001042723.1:c.7029C>T;NP_000531.2:p.Gly2343=;NP_001036188.1:p.Gly2343= 342496523 138617219 ESP2500-chr19-38990276 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.7032G>C NC_000019.9:g.38990279G>C;NG_008866.1:g.70940G>C;NM_000540.2:c.7032G>C;NM_001042723.1:c.7032G>C;NP_000531.2:p.Glu2344Asp;NP_001036188.1:p.Glu2344Asp 475871545 193922798 RYR1_00191 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7036G>A NC_000019.9:g.38990283G>A;NG_008866.1:g.70944G>A;NM_000540.2:c.7036G>A;NM_001042723.1:c.7036G>A;NP_000531.2:p.Val2346Met;NP_001036188.1:p.Val2346Met 475871546 193922799 RYR1_00211 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NM_000540.2:c.7039_7041delGAG NC_000019.9:g.38990286_38990288delGAG;NG_008866.1:g.70947_70949delGAG;NM_000540.2:c.7039_7041delGAG;NM_001042723.1:c.7039_7041delGAG;NP_000531.2:p.Glu2347del;NP_001036188.1:p.Glu2347del 275518443 121918596 5312 germline other 2010.12.08 2010.12.08 2010.12.08 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7042_7044del NC_000019.9:g.38990289_38990291delGAG;NG_008866.1:g.70950_70952delGAG;NM_000540.2:c.7042_7044delGAG;NM_001042723.1:c.7042_7044delGAG;NP_000531.2:p.Glu2348del;NP_001036188.1:p.Glu2348del 475871547 193922800 RYR1_00240 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7043A>G NC_000019.9:g.38990290A>G;NG_008866.1:g.70951A>G;NM_000540.2:c.7043A>G;NM_001042723.1:c.7043A>G;NP_000531.2:p.Glu2348Gly;NP_001036188.1:p.Glu2348Gly 475871548 193922801 RYR1_00212 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38990294C>T;NG_008866.1:g.70955C>T;NM_000540.2:c.7047C>T;NM_001042723.1:c.7047C>T;NP_000531.2:p.Asn2349=;NP_001036188.1:p.Asn2349= 342496524 149295336 ESP2500-chr19-38990294 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.7048G>A NC_000019.9:g.38990295G>A;NG_008866.1:g.70956G>A;NM_000540.2:c.7048G>A;NM_001042723.1:c.7048G>A;NP_000531.2:p.Ala2350Thr;NP_001036188.1:p.Ala2350Thr 475871549 193922802 RYR1_00097 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7063C>T NC_000019.9:g.38990310C>T;NG_008866.1:g.70971C>T;NM_000540.2:c.7063C>T;NM_001042723.1:c.7063C>T;NP_000531.2:p.Arg2355Trp;NP_001036188.1:p.Arg2355Trp 475871550 193922803 RYR1_00098 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38990311G>A;NG_008866.1:g.70972G>A;NM_000540.2:c.7064G>A;NM_001042723.1:c.7064G>A;NP_000531.2:p.Arg2355Gln;NP_001036188.1:p.Arg2355Gln 342496525 144526634 ESP2500-chr19-38990311 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.7085A>G NC_000019.9:g.38990332A>G;NG_008866.1:g.70993A>G;NM_000540.2:c.7085A>G;NM_001042723.1:c.7085A>G;NP_000531.2:p.Glu2362Gly;NP_001036188.1:p.Glu2362Gly 475871551 193922804 RYR1_00266 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 WIAF-CSNP 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 3172706 2228071 WIAF-12781 8.93e-02 germline untested 2001.06.19 2004.04.07 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 103437739 2228071 BGI_rs2228071 8.93e-02 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 168183097 2228071 NA07022_36_chr19_43682176 8.93e-02 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 211962612 2228071 YRI.trio.3.2010_1440243_chr19_43682176 8.93e-02 germline untested 2010.03.31 2010.03.31 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 228135766 2228071 pilot_1_YRI_9945449_chr19_43682176 8.93e-02 germline untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 237674198 2228071 pilot_1_CEU_7278827_chr19_43682176 8.93e-02 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 243880977 2228071 pilot_1_CHB+JPT_5766054_chr19_43682176 8.93e-02 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 255668541 2228071 SNP49654_19_43682176 8.93e-02 germline untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 283205983 2228071 GMI_AK_SNP_7526404 8.93e-02 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 342496526 2228071 ESP2500-chr19-38990336 8.93e-02 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7089C>T NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 475871552 2228071 RYR1_00051 8.93e-02 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 479315222 2228071 HumanOmni2.5-4v1_D_kgp10438578-0_B_F_1816394225 8.93e-02 germline untested 2012.01.30 2012.01.30 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 483825977 2228071 HumanOmni2.5-4v1_B_SNP19-43682176-0_B_F_1612866705 8.93e-02 unknown untested 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 491158023 2228071 20110521_exome_665821_chr19_38990336 8.93e-02 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38990336C>T;NG_008866.1:g.70997C>T;NM_000540.2:c.7089C>T;NM_001042723.1:c.7089C>T;NP_000531.2:p.Cys2363=;NP_001036188.1:p.Cys2363= 491766198 2228071 SNV-chr19-43682176 8.93e-02 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7090T>G NC_000019.9:g.38990337T>G;NG_008866.1:g.70998T>G;NM_000540.2:c.7090T>G;NM_001042723.1:c.7090T>G;NP_000531.2:p.Phe2364Val;NP_001036188.1:p.Phe2364Val 475871553 193922805 RYR1_00222 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7097C>G NC_000019.9:g.38990344C>G;NG_008866.1:g.71005C>G;NM_000540.2:c.7097C>G;NM_001042723.1:c.7097C>G;NP_000531.2:p.Pro2366Arg;NP_001036188.1:p.Pro2366Arg 475871554 193922806 RYR1_00121 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 WICVAR 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 3176136 2229147 WIAF-15951 1.13e-01 germline untested 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 4113611 2229147 AC011469.6_85941 1.13e-01 unknown untested 2001.10.15 2004.10.30 2001.08.15 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 10919323 2229147 chr19.NT_011109.15_11258563 1.13e-01 unknown untested 2003.06.30 2003.10.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 65741329 2229147 Human1-rs2229147 1.13e-01 unknown untested 2006.10.10 2006.10.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 74865327 2229147 ILMN_Human_1M_rs2229147 1.13e-01 germline untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 CORNELL 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 86239056 2229147 hCV15848809 1.13e-01 unknown untested 2008.01.21 2010.09.29 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 103437740 2229147 BGI_rs2229147 1.13e-01 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 115120492 2229147 NA19240_2008_12_16_3257601_chr19_43682185 1.13e-01 germline untested 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 119421974 2229147 KHS1584221 1.13e-01 unknown untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 159739629 2229147 RYR1-43682185 1.13e-01 unknown untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 160517354 2229147 HumanOmni1-Quad_v1-0_B_rs2229147-128_B_F_1513895184 1.13e-01 unknown untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 168183106 2229147 NA07022_36_chr19_43682185 1.13e-01 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 169707510 2229147 NA19240_36_chr19_43682185 1.13e-01 unknown untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 173192975 2229147 Human1M-Duov3_B_rs2229147-128_B_F_1513895184 1.13e-01 unknown untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 228135767 2229147 pilot_1_YRI_9945450_chr19_43682185 1.13e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 237674199 2229147 pilot_1_CEU_7278828_chr19_43682185 1.13e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 243880978 2229147 pilot_1_CHB+JPT_5766055_chr19_43682185 1.13e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 255668546 2229147 SNP49655_19_43682185 1.13e-01 germline untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 283205984 2229147 GMI_AK_SNP_7526405 1.13e-01 unknown untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 342496527 2229147 ESP2500-chr19-38990345 1.13e-01 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7098C>T NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 475871555 2229147 RYR1_00052 1.13e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 480472036 2229147 HumanOmni2.5-4v1_B_rs2229147-128_B_F_1782933230 1.13e-01 unknown untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 480486371 2229147 HumanOmniExpress-12v1_C_rs2229147-131_B_F_1857157574 1.13e-01 unknown untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 481283726 2229147 HumanOmni1-Quad_v1-0_C_rs2229147-131_B_F_1857157574 1.13e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 485033494 2229147 HumanOmni2.5-4v1_D_rs2229147-131_B_F_1857157574 1.13e-01 germline untested 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 491158024 2229147 20110521_exome_665822_chr19_38990345 1.13e-01 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38990345C>T;NG_008866.1:g.71006C>T;NM_000540.2:c.7098C>T;NM_001042723.1:c.7098C>T;NP_000531.2:p.Pro2366=;NP_001036188.1:p.Pro2366= 491766199 2229147 SNV-chr19-43682185 1.13e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990346G>A;NG_008866.1:g.71007G>A;NM_000540.2:c.7099G>A;NM_001042723.1:c.7099G>A;NP_000531.2:p.Ala2367Thr;NP_001036188.1:p.Ala2367Thr 342496528 146306934 ESP2500-chr19-38990346 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7099G>A NC_000019.9:g.38990346G>A;NG_008866.1:g.71007G>A;NM_000540.2:c.7099G>A;NM_001042723.1:c.7099G>A;NP_000531.2:p.Ala2367Thr;NP_001036188.1:p.Ala2367Thr 475871556 146306934 RYR1_00201 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990349C>T;NG_008866.1:g.71010C>T;NM_000540.2:c.7102C>T;NM_001042723.1:c.7102C>T;NP_000531.2:p.Leu2368=;NP_001036188.1:p.Leu2368= 342496529 139498212 ESP2500-chr19-38990349 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7102C>T NC_000019.9:g.38990349C>T;NG_008866.1:g.71010C>T;NM_000540.2:c.7102C>T;NM_001042723.1:c.7102C>T;NP_000531.2:p.Leu2368=;NP_001036188.1:p.Leu2368= 475871557 139498212 RYR1_00275 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7124G>C NC_000019.9:g.38990371G>C;NG_008866.1:g.71032G>C;NM_000540.2:c.7124G>C;NM_001042723.1:c.7124G>C;NP_000531.2:p.Gly2375Ala;NP_001036188.1:p.Gly2375Ala 475871558 193922807 RYR1_00171 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38990388G>A;NG_008866.1:g.71049G>A;NM_000540.2:c.7141G>A;NM_001042723.1:c.7141G>A;NP_000531.2:p.Glu2381Lys;NP_001036188.1:p.Glu2381Lys 340454610 148426762 20100804_snps_12098151_chr19_38990388 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990388G>A;NG_008866.1:g.71049G>A;NM_000540.2:c.7141G>A;NM_001042723.1:c.7141G>A;NP_000531.2:p.Glu2381Lys;NP_001036188.1:p.Glu2381Lys 342496530 148426762 ESP2500-chr19-38990388 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990388G>A;NG_008866.1:g.71049G>A;NM_000540.2:c.7141G>A;NM_001042723.1:c.7141G>A;NP_000531.2:p.Glu2381Lys;NP_001036188.1:p.Glu2381Lys 491158025 148426762 20110521_exome_665823_chr19_38990388 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990400C>T;NG_008866.1:g.71061C>T;NM_000540.2:c.7153C>T;NM_001042723.1:c.7153C>T;NP_000531.2:p.Arg2385Cys;NP_001036188.1:p.Arg2385Cys 489164484 202111332 20110521_exome_255633_chr19_38990400 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990420G>A;NG_008866.1:g.71081G>A;NM_000540.2:c.7173G>A;NM_001042723.1:c.7173G>A;NP_000531.2:p.Ala2391=;NP_001036188.1:p.Ala2391= 342496531 151115554 ESP2500-chr19-38990420 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GMI 6261 NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 155887896 78795178 GMI_SNP_120892810 5.13e-02 germline untested 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 243880979 78795178 pilot_1_CHB+JPT_5766056_chr19_43682296 5.13e-02 germline untested 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 283205985 78795178 GMI_AK_SNP_7526406 5.13e-02 unknown untested 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 342496532 78795178 ESP2500-chr19-38990456 5.13e-02 germline untested 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7209C>T NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 475871559 78795178 RYR1_00303 5.13e-02 germline untested 2011.11.25 2011.11.25 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990456C>T;NG_008866.1:g.71117C>T;NM_000540.2:c.7209C>T;NM_001042723.1:c.7209C>T;NP_000531.2:p.Arg2403=;NP_001036188.1:p.Arg2403= 491158026 78795178 20110521_exome_665824_chr19_38990456 5.13e-02 germline untested 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 POPS 6261 NC_000019.9:g.38990457G>A;NG_008866.1:g.71118G>A;NM_000540.2:c.7210G>A;NM_001042723.1:c.7210G>A;NP_000531.2:p.Glu2404Lys;NP_001036188.1:p.Glu2404Lys 182258909 111364296 MHY9 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38990457G>A;NG_008866.1:g.71118G>A;NM_000540.2:c.7210G>A;NM_001042723.1:c.7210G>A;NP_000531.2:p.Glu2404Lys;NP_001036188.1:p.Glu2404Lys 342496533 111364296 ESP2500-chr19-38990457 2011.03.27 2011.03.27 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38990478C>T;NG_008866.1:g.71139C>T;NM_000540.2:c.7214+17C>T;NM_001042723.1:c.7214+17C>T 465586831 192239942 20101123_snps_11754061_chr19_38990478 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990478C>T;NG_008866.1:g.71139C>T;NM_000540.2:c.7214+17C>T;NM_001042723.1:c.7214+17C>T 491158027 192239942 20110521_exome_665825_chr19_38990478 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990498G>A;NG_008866.1:g.71159G>A;NM_000540.2:c.7214+37G>A;NM_001042723.1:c.7214+37G>A 489164486 201563023 20110521_exome_255634_chr19_38990498 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990512C>T;NG_008866.1:g.71173C>T;NM_000540.2:c.7215-36C>T;NM_001042723.1:c.7215-36C>T 489164488 200301830 20110521_exome_255635_chr19_38990512 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38990512C>T;NG_008866.1:g.71173C>T;NM_000540.2:c.7215-36C>T;NM_001042723.1:c.7215-36C>T 491766200 200301830 SNV-chr19-43682352 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990534C>T;NG_008866.1:g.71195C>T;NM_000540.2:c.7215-14C>T;NM_001042723.1:c.7215-14C>T 489164490 199721157 20110521_exome_255636_chr19_38990534 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990561C>A;NG_008866.1:g.71222C>A;NM_000540.2:c.7228C>A;NM_001042723.1:c.7228C>A;NP_000531.2:p.Pro2410Thr;NP_001036188.1:p.Pro2410Thr 489164492 201820881 20110521_exome_255637_chr19_38990561 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990562C>T;NG_008866.1:g.71223C>T;NM_000540.2:c.7229C>T;NM_001042723.1:c.7229C>T;NP_000531.2:p.Pro2410Leu;NP_001036188.1:p.Pro2410Leu 342496534 145787667 ESP2500-chr19-38990562 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38990562C>T;NG_008866.1:g.71223C>T;NM_000540.2:c.7229C>T;NM_001042723.1:c.7229C>T;NP_000531.2:p.Pro2410Leu;NP_001036188.1:p.Pro2410Leu 491546469 145787667 nonsyn_262695_chr_19_38990562 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38990577G>A;NG_008866.1:g.71238G>A;NM_000540.2:c.7244G>A;NM_001042723.1:c.7244G>A;NP_000531.2:p.Arg2415Gln;NP_001036188.1:p.Arg2415Gln 491546470 201584482 nonsyn_262696_chr_19_38990577 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 SSAHASNP 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 21514450 12973632 WGSA-200403-chr19.chr19.NT_011109.15_11258811 3.21e-02 unknown untested 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 44196746 12973632 hCV7821692 3.21e-02 germline untested 2005.07.18 2005.07.18 2004.04.05 2012.11.28 137 CORNELL 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 86271808 12973632 hCV7821692 3.21e-02 unknown untested 2008.01.21 2010.09.29 2004.04.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 90969899 12973632 JWB-1168185 3.21e-02 unknown untested 2008.03.01 2008.03.01 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 96305680 12973632 1103691141826 3.21e-02 germline untested 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 132762433 12973632 ENSSNP1527917 3.21e-02 germline untested 2009.05.12 2009.10.15 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 137670333 12973632 ENSSNP11444316 3.21e-02 germline untested 2009.05.16 2009.05.16 2004.04.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 168988800 12973632 Human1M-Duov3_B_GA016293-0_B_F_1533442678 3.21e-02 unknown untested 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 237674200 12973632 pilot_1_CEU_7278829_chr19_43682433 3.21e-02 unknown untested 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 292248499 12973632 SNP_1754857_chr19_43682433 3.21e-02 unknown untested 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 342496535 12973632 ESP2500-chr19-38990593 3.21e-02 unknown untested 2011.03.27 2011.03.27 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7260C>T NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 475871560 12973632 RYR1_00053 3.21e-02 germline untested 2011.11.25 2011.11.25 2004.04.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 483114957 12973632 HumanOmni2.5-4v1_D_kgp313225-0_B_F_1816233912 3.21e-02 unknown untested 2012.02.02 2012.02.02 2004.04.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 483825979 12973632 HumanOmni2.5-4v1_B_SNP19-43682433-0_B_F_1622878557 3.21e-02 germline untested 2012.02.03 2012.02.03 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 491158028 12973632 20110521_exome_665826_chr19_38990593 3.21e-02 germline untested 2012.02.22 2012.02.22 2004.04.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38990593C>T;NG_008866.1:g.71254C>T;NM_000540.2:c.7260C>T;NM_001042723.1:c.7260C>T;NP_000531.2:p.His2420=;NP_001036188.1:p.His2420= 491766201 12973632 SNV-chr19-43682433 3.21e-02 unknown untested 2012.03.07 2012.03.13 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7261G>C NC_000019.9:g.38990594G>C;NG_008866.1:g.71255G>C;NM_000540.2:c.7261G>C;NM_001042723.1:c.7261G>C;NP_000531.2:p.Ala2421Pro;NP_001036188.1:p.Ala2421Pro 475871561 193922808 RYR1_00328 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.7268T>A NC_000019.9:g.38990601T>A;NG_008866.1:g.71262T>A;NM_000540.2:c.7268T>A;NM_001042723.1:c.7268T>A;NP_000531.2:p.Met2423Lys;NP_001036188.1:p.Met2423Lys 252444743 118192174 CCORE_83 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.MET2423LYS NC_000019.9:g.38990601T>A;NG_008866.1:g.71262T>A;NM_000540.2:c.7268T>A;NM_001042723.1:c.7268T>A;NP_000531.2:p.Met2423Lys;NP_001036188.1:p.Met2423Lys 275518448 118192174 5322 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7268T>A NC_000019.9:g.38990601T>A;NG_008866.1:g.71262T>A;NM_000540.2:c.7268T>A;NM_001042723.1:c.7268T>A;NP_000531.2:p.Met2423Lys;NP_001036188.1:p.Met2423Lys 475871562 118192174 RYR1_00285 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 228135768 77310009 pilot_1_YRI_9945451_chr19_43682454 2.47e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 243880980 77310009 pilot_1_CHB+JPT_5766057_chr19_43682454 2.47e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 283205986 77310009 GMI_AK_SNP_7526407 2.47e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 342496536 77310009 ESP2500-chr19-38990614 2.47e-02 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 482354612 77310009 HumanOmni2.5-4v1_D_kgp21545072-0_B_F_1844442414 2.47e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 483825982 77310009 HumanOmni2.5-4v1_B_SNP19-43682454-0_B_F_1624407658 2.47e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990614C>T;NG_008866.1:g.71275C>T;NM_000540.2:c.7281C>T;NM_001042723.1:c.7281C>T;NP_000531.2:p.Ala2427=;NP_001036188.1:p.Ala2427= 491158029 77310009 20110521_exome_665827_chr19_38990614 2.47e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7282G>A NC_000019.9:g.38990615G>A;NG_008866.1:g.71276G>A;NM_000540.2:c.7282G>A;NM_001042723.1:c.7282G>A;NP_000531.2:p.Ala2428Thr;NP_001036188.1:p.Ala2428Thr 475871563 193922809 RYR1_00183 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7291G>A NC_000019.9:g.38990624G>A;NC_000019.9:g.38990624G>T;NG_008866.1:g.71285G>A;NG_008866.1:g.71285G>T;NM_000540.2:c.7291G>A;NM_000540.2:c.7291G>T;NM_001042723.1:c.7291G>A;NM_001042723.1:c.7291G>T;NP_000531.2:p.Asp2431Asn;NP_000531.2:p.Asp2431Tyr;NP_001036188.1:p.Asp2431Asn;NP_001036188.1:p.Asp2431Tyr 475871564 193922810 RYR1_00202 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7291G>T NC_000019.9:g.38990624G>A;NC_000019.9:g.38990624G>T;NG_008866.1:g.71285G>A;NG_008866.1:g.71285G>T;NM_000540.2:c.7291G>A;NM_000540.2:c.7291G>T;NM_001042723.1:c.7291G>A;NM_001042723.1:c.7291G>T;NP_000531.2:p.Asp2431Asn;NP_000531.2:p.Asp2431Tyr;NP_001036188.1:p.Asp2431Asn;NP_001036188.1:p.Asp2431Tyr 475871565 193922810 RYR1_00223 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990626C>T;NG_008866.1:g.71287C>T;NM_000540.2:c.7293C>T;NM_001042723.1:c.7293C>T;NP_000531.2:p.Asp2431=;NP_001036188.1:p.Asp2431= 489164494 200482860 20110521_exome_255638_chr19_38990626 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 OMIM-CURATED-RECORDS 6261 NM_000540.2:c.7300G>A NC_000019.9:g.38990633G>A;NG_008866.1:g.71294G>A;NM_000540.2:c.7300G>A;NM_001042723.1:c.7300G>A;NP_000531.2:p.Gly2434Arg;NP_001036188.1:p.Gly2434Arg 275518433 121918593 5302 germline other 2010.12.08 2010.12.08 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7300G>A NC_000019.9:g.38990633G>A;NG_008866.1:g.71294G>A;NM_000540.2:c.7300G>A;NM_001042723.1:c.7300G>A;NP_000531.2:p.Gly2434Arg;NP_001036188.1:p.Gly2434Arg 475871566 121918593 RYR1_00099 germline other 2011.11.25 2011.11.25 2010.12.08 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.7304G>A NC_000019.9:g.38990637G>A;NC_000019.9:g.38990637G>T;NG_008866.1:g.71298G>A;NG_008866.1:g.71298G>T;NM_000540.2:c.7304G>A;NM_000540.2:c.7304G>T;NM_001042723.1:c.7304G>A;NM_001042723.1:c.7304G>T;NP_000531.2:p.Arg2435His;NP_000531.2:p.Arg2435Leu;NP_001036188.1:p.Arg2435His;NP_001036188.1:p.Arg2435Leu 252444732 28933396 CCORE_68 unknown untested 2010.07.15 2010.07.15 2005.05.24 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG2435HIS NC_000019.9:g.38990637G>A;NC_000019.9:g.38990637G>T;NG_008866.1:g.71298G>A;NG_008866.1:g.71298G>T;NM_000540.2:c.7304G>A;NM_000540.2:c.7304G>T;NM_001042723.1:c.7304G>A;NM_001042723.1:c.7304G>T;NP_000531.2:p.Arg2435His;NP_000531.2:p.Arg2435Leu;NP_001036188.1:p.Arg2435His;NP_001036188.1:p.Arg2435Leu 275518429 28933396 5298 germline untested 2010.12.08 2010.12.08 2005.05.24 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7304G>A NC_000019.9:g.38990637G>A;NC_000019.9:g.38990637G>T;NG_008866.1:g.71298G>A;NG_008866.1:g.71298G>T;NM_000540.2:c.7304G>A;NM_000540.2:c.7304G>T;NM_001042723.1:c.7304G>A;NM_001042723.1:c.7304G>T;NP_000531.2:p.Arg2435His;NP_000531.2:p.Arg2435Leu;NP_001036188.1:p.Arg2435His;NP_001036188.1:p.Arg2435Leu 475871567 28933396 RYR1_00114 germline untested 2011.11.25 2011.11.25 2005.05.24 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7304G>T NC_000019.9:g.38990637G>A;NC_000019.9:g.38990637G>T;NG_008866.1:g.71298G>A;NG_008866.1:g.71298G>T;NM_000540.2:c.7304G>A;NM_000540.2:c.7304G>T;NM_001042723.1:c.7304G>A;NM_001042723.1:c.7304G>T;NP_000531.2:p.Arg2435His;NP_000531.2:p.Arg2435Leu;NP_001036188.1:p.Arg2435His;NP_001036188.1:p.Arg2435Leu 475871568 28933396 RYR1_00115 germline pathogenic 2011.11.25 2011.11.25 2005.05.24 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7310C>T NC_000019.9:g.38990643C>T;NG_008866.1:g.71304C>T;NM_000540.2:c.7310C>T;NM_001042723.1:c.7310C>T;NP_000531.2:p.Ala2437Val;NP_001036188.1:p.Ala2437Val 475871569 193922812 RYR1_00207 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7317G>C NC_000019.9:g.38990650G>C;NG_008866.1:g.71311G>C;NM_000540.2:c.7317G>C;NM_001042723.1:c.7317G>C;NP_000531.2:p.Glu2439Asp;NP_001036188.1:p.Glu2439Asp 475871570 193922813 RYR1_00267 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38990653G>T;NG_008866.1:g.71314G>T;NM_000540.2:c.7320G>T;NM_001042723.1:c.7320G>T;NP_000531.2:p.Met2440Ile;NP_001036188.1:p.Met2440Ile 342496537 137938867 ESP2500-chr19-38990653 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38990654C>G;NG_008866.1:g.71315C>G;NM_000540.2:c.7321C>G;NM_001042723.1:c.7321C>G;NP_000531.2:p.His2441Asp;NP_001036188.1:p.His2441Asp 340454611 142422765 20100804_snps_12098152_chr19_38990654 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990654C>G;NG_008866.1:g.71315C>G;NM_000540.2:c.7321C>G;NM_001042723.1:c.7321C>G;NP_000531.2:p.His2441Asp;NP_001036188.1:p.His2441Asp 491158030 142422765 20110521_exome_665828_chr19_38990654 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 HGBASE 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 3182306 2234709 SNP000064359 8.88e-02 germline untested 2001.07.09 2003.10.10 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 103437741 2234709 BGI_rs2234709 8.88e-02 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 168183119 2234709 NA07022_36_chr19_43682516 8.88e-02 unknown untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 211962615 2234709 YRI.trio.3.2010_1440244_chr19_43682516 8.88e-02 unknown untested 2010.03.31 2010.03.31 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 228135769 2234709 pilot_1_YRI_9945452_chr19_43682516 8.88e-02 germline untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 237674201 2234709 pilot_1_CEU_7278830_chr19_43682516 8.88e-02 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 243880981 2234709 pilot_1_CHB+JPT_5766058_chr19_43682516 8.88e-02 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 255668550 2234709 SNP49656_19_43682516 8.88e-02 germline untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 283205987 2234709 GMI_AK_SNP_7526408 8.88e-02 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7323+20C>A NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 475871571 2234709 RYR1_00353 8.88e-02 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990676C>A;NG_008866.1:g.71337C>A;NM_000540.2:c.7323+20C>A;NM_001042723.1:c.7323+20C>A 491158031 2234709 20110521_exome_665829_chr19_38990676 8.88e-02 germline untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38990714G>A;NG_008866.1:g.71375G>A;NM_000540.2:c.7323+58G>A;NM_001042723.1:c.7323+58G>A 465586832 183981209 20101123_snps_11754062_chr19_38990714 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38991001delA;NG_008866.1:g.71662delA;NM_000540.2:c.7324-245delA;NM_001042723.1:c.7324-245delA 499576312 200673219 20110316_indels_chr19_38991000_38991000 2.56e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991008G>A;NG_008866.1:g.71669G>A;NM_000540.2:c.7324-238G>A;NM_001042723.1:c.7324-238G>A 243880982 77641258 pilot_1_CHB+JPT_5766059_chr19_43682848 2.38e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 MPI_MOLGEN 6261 NC_000019.9:g.38991107C>T;NG_008866.1:g.71768C>T;NM_000540.2:c.7324-139C>T;NM_001042723.1:c.7324-139C>T 469257090 191481468 Chromosome19_43682947 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 1000GENOMES 6261 NC_000019.9:g.38991144G>C;NG_008866.1:g.71805G>C;NM_000540.2:c.7324-102G>C;NM_001042723.1:c.7324-102G>C 340454612 150872361 20100804_snps_12098153_chr19_38991144 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.38991227C>T;NG_008866.1:g.71888C>T;NM_000540.2:c.7324-19C>T;NM_001042723.1:c.7324-19C>T 21540033 12981175 WGSA-200403-chr19.chr19.NT_011109.15_11259445 unknown untested 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7324-19C>T NC_000019.9:g.38991227C>T;NG_008866.1:g.71888C>T;NM_000540.2:c.7324-19C>T;NM_001042723.1:c.7324-19C>T 475871572 12981175 RYR1_00352 germline untested 2011.11.25 2011.11.25 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7324-1G>T NC_000019.9:g.38991245G>T;NG_008866.1:g.71906G>T;NM_000540.2:c.7324-1G>T;NM_001042723.1:c.7324-1G>T 475871573 193922814 RYR1_00317 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991266T>C;NG_008866.1:g.71927T>C;NM_000540.2:c.7344T>C;NM_001042723.1:c.7344T>C;NP_000531.2:p.Gly2448=;NP_001036188.1:p.Gly2448= 491766202 199813873 SNV-chr19-43683106 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991271C>T;NG_008866.1:g.71932C>T;NM_000540.2:c.7349C>T;NM_001042723.1:c.7349C>T;NP_000531.2:p.Ala2450Val;NP_001036188.1:p.Ala2450Val 342496538 141959437 ESP2500-chr19-38991271 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38991271C>T;NG_008866.1:g.71932C>T;NM_000540.2:c.7349C>T;NM_001042723.1:c.7349C>T;NP_000531.2:p.Ala2450Val;NP_001036188.1:p.Ala2450Val 491546471 141959437 nonsyn_262697_chr_19_38991271 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.7354C>T NC_000019.9:g.38991276C>T;NG_008866.1:g.71937C>T;NM_000540.2:c.7354C>T;NM_001042723.1:c.7354C>T;NP_000531.2:p.Arg2452Trp;NP_001036188.1:p.Arg2452Trp 252444692 118192124 CCORE_15 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7354C>T NC_000019.9:g.38991276C>T;NG_008866.1:g.71937C>T;NM_000540.2:c.7354C>T;NM_001042723.1:c.7354C>T;NP_000531.2:p.Arg2452Trp;NP_001036188.1:p.Arg2452Trp 475871574 118192124 RYR1_00157 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7355G>A NC_000019.9:g.38991277G>A;NG_008866.1:g.71938G>A;NM_000540.2:c.7355G>A;NM_001042723.1:c.7355G>A;NP_000531.2:p.Arg2452Gln;NP_001036188.1:p.Arg2452Gln 475871575 193922815 RYR1_00122 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.7358T>C NC_000019.9:g.38991280T>C;NG_008866.1:g.71941T>C;NM_000540.2:c.7358T>C;NM_001042723.1:c.7358T>C;NP_000531.2:p.Ile2453Thr;NP_001036188.1:p.Ile2453Thr 252444691 118192123 CCORE_14 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7358T>C NC_000019.9:g.38991280T>C;NG_008866.1:g.71941T>C;NM_000540.2:c.7358T>C;NM_001042723.1:c.7358T>C;NP_000531.2:p.Ile2453Thr;NP_001036188.1:p.Ile2453Thr 475871576 118192123 RYR1_00196 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7360C>T NC_000019.9:g.38991282C>T;NG_008866.1:g.71943C>T;NM_000540.2:c.7360C>T;NM_001042723.1:c.7360C>T;NP_000531.2:p.Arg2454Cys;NP_001036188.1:p.Arg2454Cys 475871577 193922816 RYR1_00023 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.7361G>A NC_000019.9:g.38991283G>A;NG_008866.1:g.71944G>A;NM_000540.2:c.7361G>A;NM_001042723.1:c.7361G>A;NP_000531.2:p.Arg2454His;NP_001036188.1:p.Arg2454His 252444690 118192122 CCORE_13 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7361G>A NC_000019.9:g.38991283G>A;NG_008866.1:g.71944G>A;NM_000540.2:c.7361G>A;NM_001042723.1:c.7361G>A;NP_000531.2:p.Arg2454His;NP_001036188.1:p.Arg2454His 475871578 118192122 RYR1_00100 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG2458CYS NC_000019.9:g.38991294C>T;NG_008866.1:g.71955C>T;NM_000540.2:c.7372C>T;NM_001042723.1:c.7372C>T;NP_000531.2:p.Arg2458Cys;NP_001036188.1:p.Arg2458Cys 275518434 28933397 5303 germline other 2010.12.08 2010.12.08 2005.05.24 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7372C>T NC_000019.9:g.38991294C>T;NG_008866.1:g.71955C>T;NM_000540.2:c.7372C>T;NM_001042723.1:c.7372C>T;NP_000531.2:p.Arg2458Cys;NP_001036188.1:p.Arg2458Cys 475871579 28933397 RYR1_00154 germline other 2011.11.25 2011.11.25 2005.05.24 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG2458HIS NC_000019.9:g.38991295G>A;NG_008866.1:g.71956G>A;NM_000540.2:c.7373G>A;NM_001042723.1:c.7373G>A;NP_000531.2:p.Arg2458His;NP_001036188.1:p.Arg2458His 275518435 121918594 5304 germline other 2010.12.08 2010.12.08 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7373G>A NC_000019.9:g.38991295G>A;NG_008866.1:g.71956G>A;NM_000540.2:c.7373G>A;NM_001042723.1:c.7373G>A;NP_000531.2:p.Arg2458His;NP_001036188.1:p.Arg2458His 475871580 121918594 RYR1_00101 germline other 2011.11.25 2011.11.25 2010.12.08 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991325G>A;NG_008866.1:g.71986G>A;NM_000540.2:c.7403G>A;NM_001042723.1:c.7403G>A;NP_000531.2:p.Gly2468Asp;NP_001036188.1:p.Gly2468Asp 342496539 146252940 ESP2500-chr19-38991325 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38991332C>T;NG_008866.1:g.71993C>T;NM_000540.2:c.7410C>T;NM_001042723.1:c.7410C>T;NP_000531.2:p.Ile2470=;NP_001036188.1:p.Ile2470= 342496540 148275452 ESP2500-chr19-38991332 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 APPLERA_GI 6261 NC_000019.9:g.38991347G>A;NG_008866.1:g.72008G>A;NM_000540.2:c.7425G>A;NM_001042723.1:c.7425G>A;NP_000531.2:p.Gln2475=;NP_001036188.1:p.Gln2475= 48401750 35512081 hCV25922987 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991347G>A;NG_008866.1:g.72008G>A;NM_000540.2:c.7425G>A;NM_001042723.1:c.7425G>A;NP_000531.2:p.Gln2475=;NP_001036188.1:p.Gln2475= 160627438 35512081 HumanOmni1-Quad_v1-0_B_rs35512081-128_B_R_1562412334 2009.08.06 2009.10.04 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991347G>A;NG_008866.1:g.72008G>A;NM_000540.2:c.7425G>A;NM_001042723.1:c.7425G>A;NP_000531.2:p.Gln2475=;NP_001036188.1:p.Gln2475= 481724505 35512081 HumanOmni1-Quad_v1-0_C_rs35512081-131_B_R_1863356813 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991351C>T;NG_008866.1:g.72012C>T;NM_000540.2:c.7429C>T;NM_001042723.1:c.7429C>T;NP_000531.2:p.Pro2477Ser;NP_001036188.1:p.Pro2477Ser 489164496 200042399 20110521_exome_255639_chr19_38991351 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991355C>A;NG_008866.1:g.72016C>A;NM_000540.2:c.7433C>A;NM_001042723.1:c.7433C>A;NP_000531.2:p.Thr2478Asn;NP_001036188.1:p.Thr2478Asn 342496541 141298868 ESP2500-chr19-38991355 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38991355C>A;NG_008866.1:g.72016C>A;NM_000540.2:c.7433C>A;NM_001042723.1:c.7433C>A;NP_000531.2:p.Thr2478Asn;NP_001036188.1:p.Thr2478Asn 491546472 141298868 nonsyn_262698_chr_19_38991355 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991390G>A;NG_008866.1:g.72051G>A;NM_000540.2:c.7444+24G>A;NM_001042723.1:c.7444+24G>A 465586833 189603269 20101123_snps_11754063_chr19_38991390 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991390G>A;NG_008866.1:g.72051G>A;NM_000540.2:c.7444+24G>A;NM_001042723.1:c.7444+24G>A 491158032 189603269 20110521_exome_665830_chr19_38991390 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991400T>G;NG_008866.1:g.72061T>G;NM_000540.2:c.7444+34T>G;NM_001042723.1:c.7444+34T>G 489164498 201809210 20110521_exome_255640_chr19_38991400 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991498C>T;NG_008866.1:g.72159C>T;NM_000540.2:c.7482C>T;NM_001042723.1:c.7482C>T;NP_000531.2:p.Phe2494=;NP_001036188.1:p.Phe2494= 489164500 201375572 20110521_exome_255641_chr19_38991498 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991499G>A;NG_008866.1:g.72160G>A;NM_000540.2:c.7483G>A;NM_001042723.1:c.7483G>A;NP_000531.2:p.Val2495Met;NP_001036188.1:p.Val2495Met 489164502 200291321 20110521_exome_255642_chr19_38991499 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7487C>T NC_000019.9:g.38991503C>T;NG_008866.1:g.72164C>T;NM_000540.2:c.7487C>T;NM_001042723.1:c.7487C>T;NP_000531.2:p.Pro2496Leu;NP_001036188.1:p.Pro2496Leu 475871581 193922817 RYR1_00123 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991503C>T;NG_008866.1:g.72164C>T;NM_000540.2:c.7487C>T;NM_001042723.1:c.7487C>T;NP_000531.2:p.Pro2496Leu;NP_001036188.1:p.Pro2496Leu 491766203 193922817 SNV-chr19-43683343 germline untested 2012.03.07 2012.03.13 2011.11.25 2012.11.28 137 WIAF-CSNP 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 3172707 2228072 WIAF-12782 1.16e-01 unknown untested 2001.06.19 2004.04.07 2001.08.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 48401751 2228072 hCV16170478 1.16e-01 germline untested 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 52073890 2228072 NT_011109.15_11259734 1.16e-01 germline untested 2006.03.29 2006.03.29 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 111365681 2228072 CEU.trio.12.15.2008_3616646_chr19_43683356 1.16e-01 unknown untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 117702593 2228072 NA18507_000043888_NCBI36.1_chr19_43683356 1.16e-01 germline untested 2009.01.20 2009.01.20 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 159739630 2228072 RYR1-43683356 1.16e-01 germline untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 203750951 2228072 BUSHMAN-chr19-43683355 1.16e-01 germline untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 208507136 2228072 BCM_CMT_1011-3126808 1.16e-01 germline untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 228135770 2228072 pilot_1_YRI_9945453_chr19_43683356 1.16e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 237674202 2228072 pilot_1_CEU_7278831_chr19_43683356 1.16e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 243880983 2228072 pilot_1_CHB+JPT_5766060_chr19_43683356 1.16e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 283205988 2228072 GMI_AK_SNP_7526409 1.16e-01 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 342496542 2228072 ESP2500-chr19-38991516 1.16e-01 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7500G>T NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 475871582 2228072 RYR1_00054 1.16e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 480187419 2228072 HumanOmni2.5-4v1_D_kgp1288525-0_T_F_1816112230 1.16e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 483825984 2228072 HumanOmni2.5-4v1_B_SNP19-43683356-0_T_F_1622855751 1.16e-01 unknown untested 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 491158033 2228072 20110521_exome_665831_chr19_38991516 1.16e-01 germline untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991516G>T;NG_008866.1:g.72177G>T;NM_000540.2:c.7500G>T;NM_001042723.1:c.7500G>T;NP_000531.2:p.Ala2500=;NP_001036188.1:p.Ala2500= 491766204 2228072 SNV-chr19-43683356 1.16e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.7522C>T NC_000019.9:g.38991538C>G;NC_000019.9:g.38991538C>T;NG_008866.1:g.72199C>G;NG_008866.1:g.72199C>T;NM_000540.2:c.7522C>G;NM_000540.2:c.7522C>T;NM_001042723.1:c.7522C>G;NM_001042723.1:c.7522C>T;NP_000531.2:p.Arg2508Cys;NP_000531.2:p.Arg2508Gly;NP_001036188.1:p.Arg2508Cys;NP_001036188.1:p.Arg2508Gly 252444747 118192178 CCORE_90 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7522C>G NC_000019.9:g.38991538C>G;NC_000019.9:g.38991538C>T;NG_008866.1:g.72199C>G;NG_008866.1:g.72199C>T;NM_000540.2:c.7522C>G;NM_000540.2:c.7522C>T;NM_001042723.1:c.7522C>G;NM_001042723.1:c.7522C>T;NP_000531.2:p.Arg2508Cys;NP_000531.2:p.Arg2508Gly;NP_001036188.1:p.Arg2508Cys;NP_001036188.1:p.Arg2508Gly 475871583 118192178 RYR1_00131 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7522C>T NC_000019.9:g.38991538C>G;NC_000019.9:g.38991538C>T;NG_008866.1:g.72199C>G;NG_008866.1:g.72199C>T;NM_000540.2:c.7522C>G;NM_000540.2:c.7522C>T;NM_001042723.1:c.7522C>G;NM_001042723.1:c.7522C>T;NP_000531.2:p.Arg2508Cys;NP_000531.2:p.Arg2508Gly;NP_001036188.1:p.Arg2508Cys;NP_001036188.1:p.Arg2508Gly 475871584 118192178 RYR1_00233 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7523G>A NC_000019.9:g.38991539G>A;NG_008866.1:g.72200G>A;NM_000540.2:c.7523G>A;NM_001042723.1:c.7523G>A;NP_000531.2:p.Arg2508His;NP_001036188.1:p.Arg2508His 475871585 193922818 RYR1_00228 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 YUSUKE 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 2984583 2071088 IMS-JST006392 1.01e-01 germline untested 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 3176137 2071088 WIAF-15953 1.01e-01 unknown untested 2001.06.28 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 3186170 2071088 SNP000571754 1.01e-01 unknown untested 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 48401752 2071088 hCV15868227 1.01e-01 germline untested 2005.11.30 2006.11.03 2001.06.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 52073438 2071088 NT_011109.15_11259761 1.01e-01 unknown untested 2006.03.29 2006.03.29 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 75110215 2071088 ILMN_Human_1M_rs2071088 1.01e-01 unknown untested 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 111365689 2071088 CEU.trio.12.15.2008_3616647_chr19_43683383 1.01e-01 germline untested 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 119415228 2071088 KHS1577475 1.01e-01 germline untested 2009.02.04 2009.02.04 2001.06.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 159739631 2071088 RYR1-43683383 1.01e-01 unknown untested 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 173095684 2071088 Human1M-Duov3_B_rs2071088-128_B_R_1514077638 1.01e-01 germline untested 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 203750952 2071088 BUSHMAN-chr19-43683382 1.01e-01 germline untested 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 208466132 2071088 BCM_CMT_1011-3112921 1.01e-01 germline untested 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 228135771 2071088 pilot_1_YRI_9945454_chr19_43683383 1.01e-01 germline untested 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 237674203 2071088 pilot_1_CEU_7278832_chr19_43683383 1.01e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 243880984 2071088 pilot_1_CHB+JPT_5766061_chr19_43683383 1.01e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 283205989 2071088 GMI_AK_SNP_7526410 1.01e-01 unknown untested 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 342496543 2071088 ESP2500-chr19-38991543 1.01e-01 germline untested 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7527G>A NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 475871586 2071088 RYR1_00055 1.01e-01 germline untested 2011.11.25 2011.11.25 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 483825986 2071088 HumanOmni2.5-4v1_B_SNP19-43683383-0_B_R_1628386482 1.01e-01 unknown untested 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 484313300 2071088 HumanOmni2.5-4v1_D_kgp9653962-0_B_R_1815996083 1.01e-01 unknown untested 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 491158034 2071088 20110521_exome_665832_chr19_38991543 1.01e-01 germline untested 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991543G>A;NG_008866.1:g.72204G>A;NM_000540.2:c.7527G>A;NM_001042723.1:c.7527G>A;NP_000531.2:p.Val2509=;NP_001036188.1:p.Val2509= 491766205 2071088 SNV-chr19-43683383 1.01e-01 germline untested 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7528T>C NC_000019.9:g.38991544T>C;NG_008866.1:g.72205T>C;NM_000540.2:c.7528T>C;NM_001042723.1:c.7528T>C;NP_000531.2:p.Tyr2510His;NP_001036188.1:p.Tyr2510His 475871588 193922819 RYR1_00102 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 TSC-CSHL 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 2286010 1465698 TSC0380967 2.70e-02 unknown untested 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 48401753 1465698 hCV8709872 2.70e-02 unknown untested 2005.11.30 2005.11.30 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 160357635 1465698 HumanOmni1-Quad_v1-0_B_rs1465698-128_T_R_1562412503 2.70e-02 germline untested 2009.08.06 2009.10.02 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 228135772 1465698 pilot_1_YRI_9945455_chr19_43683440 2.70e-02 unknown untested 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 243880985 1465698 pilot_1_CHB+JPT_5766062_chr19_43683440 2.70e-02 unknown untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 342496544 1465698 ESP2500-chr19-38991600 2.70e-02 germline untested 2011.03.27 2011.03.27 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7584C>T NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 475871589 1465698 RYR1_00013 2.70e-02 unknown untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 480648279 1465698 HumanOmni1-Quad_v1-0_C_rs1465698-131_T_R_1863355797 2.70e-02 unknown untested 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 491158035 1465698 20110521_exome_665833_chr19_38991600 2.70e-02 germline untested 2012.02.22 2012.02.22 2000.10.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991600C>T;NG_008866.1:g.72261C>T;NM_000540.2:c.7584C>T;NM_001042723.1:c.7584C>T;NP_000531.2:p.Pro2528=;NP_001036188.1:p.Pro2528= 491766206 1465698 SNV-chr19-43683440 2.70e-02 germline untested 2012.03.07 2012.03.13 2000.10.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991624G>A;NG_008866.1:g.72285G>A;NM_000540.2:c.7608G>A;NM_001042723.1:c.7608G>A;NP_000531.2:p.Leu2536=;NP_001036188.1:p.Leu2536= 491766207 201686887 SNV-chr19-43683464 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 4171555 2960323 AC091486.2_19211 2.44e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 19397474 2960323 CSHL-HuDD-200402.chr19.NT_011109.15_11259858 2.44e-01 germline untested 2004.02.21 2004.03.04 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 44168195 2960323 hCV7821691 2.44e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 86007761 2960323 Cor19129_SNV_20070510.chr19_43683480 2.44e-01 germline untested 2007.12.10 2007.12.10 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 96305681 2960323 1103691141827 2.44e-01 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 103437742 2960323 BGI_rs2960323 2.44e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 136267515 2960323 ENSSNP1527918 2.44e-01 germline untested 2009.05.15 2010.03.07 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 137670336 2960323 ENSSNP6419244 2.44e-01 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 168183131 2960323 NA07022_36_chr19_43683480 2.44e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 169707531 2960323 NA19240_36_chr19_43683480 2.44e-01 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 203750953 2960323 BUSHMAN-chr19-43683479 2.44e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 211962617 2960323 YRI.trio.3.2010_1440245_chr19_43683480 2.44e-01 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 228135773 2960323 pilot_1_YRI_9945456_chr19_43683480 2.44e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 237674204 2960323 pilot_1_CEU_7278833_chr19_43683480 2.44e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 243880986 2960323 pilot_1_CHB+JPT_5766063_chr19_43683480 2.44e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 255668556 2960323 SNP49657_19_43683480 2.44e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 283205990 2960323 GMI_AK_SNP_7526411 2.44e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 292248500 2960323 SNP_1754858_chr19_43683480 2.44e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7614+10C>G NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 475871587 2960323 RYR1_00354 2.44e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 483168247 2960323 HumanOmni2.5-4v1_D_kgp3422253-0_B_R_1816450360 2.44e-01 germline untested 2012.02.02 2012.02.02 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 483825988 2960323 HumanOmni2.5-4v1_B_SNP19-43683480-0_T_R_1628553844 2.44e-01 unknown untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 491158036 2960323 20110521_exome_665834_chr19_38991640 2.44e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38991640C>G;NG_008866.1:g.72301C>G;NM_000540.2:c.7614+10C>G;NM_001042723.1:c.7614+10C>G 491766208 2960323 SNV-chr19-43683480 2.44e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991734G>A;NG_008866.1:g.72395G>A;NM_000540.2:c.7614+104G>A;NM_001042723.1:c.7614+104G>A 340454613 139344688 20100804_snps_12098154_chr19_38991734 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38991876G>C;NG_008866.1:g.72537G>C;NM_000540.2:c.7614+246G>C;NM_001042723.1:c.7614+246G>C 465586834 181566734 20101123_snps_11754064_chr19_38991876 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 4171556 2960324 AC091486.2_19460 1.57e-01 2001.10.15 2003.10.10 2001.11.05 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 19402867 2960324 CSHL-HuDD-200402.chr19.NT_011109.15_11260107 1.57e-01 2004.02.21 2004.03.04 2001.11.05 2011.09.09 137 ABI 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 41021744 2960324 hCV7821686 1.57e-01 2005.07.17 2005.07.17 2001.11.05 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 90969901 2960324 JWB-1168186 1.57e-01 2008.03.01 2008.03.01 2001.11.05 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 136267513 2960324 ENSSNP1527919 1.57e-01 2009.05.15 2010.03.07 2001.11.05 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 137670340 2960324 ENSSNP6442638 1.57e-01 2009.05.16 2009.05.16 2001.11.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 169707551 2960324 NA19240_36_chr19_43683729 1.57e-01 2009.10.01 2009.10.01 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 228135774 2960324 pilot_1_YRI_9945457_chr19_43683729 1.57e-01 2010.04.22 2010.04.22 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 237674205 2960324 pilot_1_CEU_7278834_chr19_43683729 1.57e-01 2010.05.01 2010.05.01 2001.11.05 2011.09.09 137 PJP 6261 NC_000019.9:g.38991889C>T;NG_008866.1:g.72550C>T;NM_000540.2:c.7614+259C>T;NM_001042723.1:c.7614+259C>T 292248501 2960324 SNP_1754859_chr19_43683729 1.57e-01 2011.01.21 2011.01.21 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38991911G>A;NG_008866.1:g.72572G>A;NM_000540.2:c.7614+281G>A;NM_001042723.1:c.7614+281G>A 465586835 185938859 20101123_snps_11754065_chr19_38991911 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 168183145 113750580 NA07022_36_chr19_43683804 2.04e-01 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 203750954 113750580 BUSHMAN-chr19-43683803 2.04e-01 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 208510299 113750580 BCM_CMT_1011-3127930 2.04e-01 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 255668560 113750580 SNP49658_19_43683804 2.04e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 283205991 113750580 GMI_AK_SNP_7526412 2.04e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38991964C>T;NG_008866.1:g.72625C>T;NM_000540.2:c.7614+334C>T;NM_001042723.1:c.7614+334C>T 340454614 113750580 20100804_snps_12098155_chr19_38991964 2.04e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38992030C>T;NG_008866.1:g.72691C>T;NM_000540.2:c.7614+400C>T;NM_001042723.1:c.7614+400C>T 203750955 113722662 BUSHMAN-chr19-43683869 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38992048G>A;NG_008866.1:g.72709G>A;NM_000540.2:c.7614+418G>A;NM_001042723.1:c.7614+418G>A 465586836 189571016 20101123_snps_11754066_chr19_38992048 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38992079A>G;NG_008866.1:g.72740A>G;NM_000540.2:c.7614+449A>G;NM_001042723.1:c.7614+449A>G 208560614 113070883 BCM_CMT_1011-3144874 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 ABI 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 41015520 35407808 hCV7821685 3.30e-02 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 90969903 35407808 JWB-1168187 3.30e-02 2008.03.01 2008.03.01 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 96305682 35407808 1103691141829 3.30e-02 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 136267509 35407808 ENSSNP1527920 3.30e-02 2009.05.15 2009.10.15 2006.03.15 2011.09.09 137 PJP 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 292248502 35407808 SNP_1754860_chr19_43683926 3.30e-02 2011.01.21 2011.01.21 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992086C>T;NG_008866.1:g.72747C>T;NM_000540.2:c.7614+456C>T;NM_001042723.1:c.7614+456C>T 340454615 35407808 20100804_snps_12098156_chr19_38992086 3.30e-02 2011.03.22 2011.03.22 2006.03.15 2011.09.09 137 GMI 6261 NC_000019.9:g.38992087G>A;NG_008866.1:g.72748G>A;NM_000540.2:c.7614+457G>A;NM_001042723.1:c.7614+457G>A 283205992 141224509 GMI_AK_SNP_7526413 1.65e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992087G>A;NG_008866.1:g.72748G>A;NM_000540.2:c.7614+457G>A;NM_001042723.1:c.7614+457G>A 340454616 141224509 20100804_snps_12098157_chr19_38992087 1.65e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992114G>A;NG_008866.1:g.72775G>A;NM_000540.2:c.7614+484G>A;NM_001042723.1:c.7614+484G>A 243880987 117300102 pilot_1_CHB+JPT_5766064_chr19_43683954 2.34e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38992114G>A;NG_008866.1:g.72775G>A;NM_000540.2:c.7614+484G>A;NM_001042723.1:c.7614+484G>A 283205993 117300102 GMI_AK_SNP_7526414 2.34e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992123C>T;NG_008866.1:g.72784C>T;NM_000540.2:c.7614+493C>T;NM_001042723.1:c.7614+493C>T 340454617 143589019 20100804_snps_12098158_chr19_38992123 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992145delT;NG_008866.1:g.72806delT;NM_000540.2:c.7614+515delT;NM_001042723.1:c.7614+515delT 499576316 201849474 20110316_indels_chr19_38992144_38992144 1.14e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 3096453 2163823 TSC1196537 3.61e-01 2001.06.07 2004.04.07 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 40965476 2163823 hCV11507946 3.61e-01 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 66611569 2163823 HumanHap300v1.1_rs2163823 3.61e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 67229741 2163823 HumanHap550v1.1_rs2163823 3.61e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 67625110 2163823 HumanHap650Yv1.0_rs2163823 3.61e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 70708065 2163823 HumanHap550v3.0__rs2163823 3.61e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 71275026 2163823 HumanHap650Yv3.0_rs2163823 3.61e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 75470794 2163823 ILMN_Human_1M_rs2163823 3.61e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 79117700 2163823 HumanHap300v2.0_rs2163823 3.61e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 82302123 2163823 Cor18555_SNV_20070510.chr19_43684018 3.61e-01 2007.12.02 2007.12.02 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 83985931 2163823 KHS593037 3.61e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 90969906 2163823 JWB-1168188 3.61e-01 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 96305683 2163823 1103691141830 3.61e-01 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 103437743 2163823 BGI_rs2163823 3.61e-01 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 111365697 2163823 CEU.trio.12.15.2008_3616648_chr19_43684018 3.61e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 115120500 2163823 NA19240_2008_12_16_3257602_chr19_43684018 3.61e-01 2008.12.19 2008.12.19 2001.06.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 117702596 2163823 NA18507_000043889_NCBI36.1_chr19_43684018 3.61e-01 2009.01.20 2009.01.20 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 121934289 2163823 HumanCNV370v1_C_rs2163823 3.61e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 136267506 2163823 ENSSNP1527921 3.61e-01 2009.05.15 2009.10.15 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 137670342 2163823 ENSSNP6515106 3.61e-01 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 153869869 2163823 Human610_Quadv1_B_rs2163823-128_B_R_1501712735 3.61e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 159364042 2163823 Human660W-Quad_v1_A_rs2163823-128_B_R_1501712735 3.61e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 160509196 2163823 HumanOmni1-Quad_v1-0_B_rs2163823-128_B_R_1501712735 3.61e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 168183160 2163823 NA07022_36_chr19_43684018 3.61e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 169707572 2163823 NA19240_36_chr19_43684018 3.61e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 171057653 2163823 HumanCNV370-Quadv3_C_rs2163823-128_B_R_1501712735 3.61e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 173151787 2163823 Human1M-Duov3_B_rs2163823-128_B_R_1501712735 3.61e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 203750956 2163823 BUSHMAN-chr19-43684017 3.61e-01 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 208450038 2163823 BCM_CMT_1011-3107464 3.61e-01 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 228135775 2163823 pilot_1_YRI_9945458_chr19_43684018 3.61e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 237674206 2163823 pilot_1_CEU_7278835_chr19_43684018 3.61e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 243880988 2163823 pilot_1_CHB+JPT_5766065_chr19_43684018 3.61e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 255668566 2163823 SNP49659_19_43684018 3.61e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 283205994 2163823 GMI_AK_SNP_7526415 3.61e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 292248503 2163823 SNP_1754861_chr19_43684018 3.61e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 480446189 2163823 HumanOmni2.5-4v1_B_rs2163823-128_B_R_1782937499 3.61e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 480460073 2163823 HumanOmniExpress-12v1_C_rs2163823-131_B_R_1857132602 3.61e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 481251344 2163823 HumanOmni1-Quad_v1-0_C_rs2163823-131_B_R_1865669584 3.61e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992178G>A;NG_008866.1:g.72839G>A;NM_000540.2:c.7614+548G>A;NM_001042723.1:c.7614+548G>A 485020539 2163823 HumanOmni2.5-4v1_D_rs2163823-131_B_R_1857132602 3.61e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38992319T>G;NG_008866.1:g.72980T>G;NM_000540.2:c.7614+689T>G;NM_001042723.1:c.7614+689T>G 12573064 8182482 chr19.NT_011109.15_11260537 2003.07.14 2003.10.10 2003.08.27 2011.09.09 137 SC_SNP 6261 NC_000019.9:g.38992319T>G;NG_008866.1:g.72980T>G;NM_000540.2:c.7614+689T>G;NM_001042723.1:c.7614+689T>G 15448362 8182482 NT_011109.15_11260537 2003.11.14 2003.11.22 2003.08.27 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 3037901 2116869 TSC1120353 8.20e-02 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 40988827 2116869 hCV15818408 8.20e-02 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 103437744 2116869 BGI_rs2116869 8.20e-02 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 168183176 2116869 NA07022_36_chr19_43684195 8.20e-02 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 228135776 2116869 pilot_1_YRI_9945459_chr19_43684195 8.20e-02 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 237674207 2116869 pilot_1_CEU_7278836_chr19_43684195 8.20e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 243880989 2116869 pilot_1_CHB+JPT_5766066_chr19_43684195 8.20e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 255668572 2116869 SNP49660_19_43684195 8.20e-02 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38992355A>G;NG_008866.1:g.73016A>G;NM_000540.2:c.7614+725A>G;NM_001042723.1:c.7614+725A>G 283205995 2116869 GMI_AK_SNP_7526416 8.20e-02 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38992524G>A;NG_008866.1:g.73185G>A;NM_000540.2:c.7615-623G>A;NM_001042723.1:c.7615-623G>A 283205996 146825870 GMI_AK_SNP_7526417 5.00e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992524G>A;NG_008866.1:g.73185G>A;NM_000540.2:c.7615-623G>A;NM_001042723.1:c.7615-623G>A 340454618 146825870 20100804_snps_12098159_chr19_38992524 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 ABI 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 41001151 35335410 hCV7821679 3.48e-02 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 90969908 35335410 JWB-1168189 3.48e-02 2008.03.01 2008.03.01 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 96305684 35335410 1103691141831 3.48e-02 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 132762437 35335410 ENSSNP1527922 3.48e-02 2009.05.12 2009.10.15 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 137670346 35335410 ENSSNP11444320 3.48e-02 2009.05.16 2009.05.16 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 228135777 35335410 pilot_1_YRI_9945460_chr19_43684405 3.48e-02 2010.04.22 2010.04.22 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992565G>T;NG_008866.1:g.73226G>T;NM_000540.2:c.7615-582G>T;NM_001042723.1:c.7615-582G>T 237674208 35335410 pilot_1_CEU_7278837_chr19_43684405 3.48e-02 2010.05.01 2010.05.01 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992573C>T;NG_008866.1:g.73234C>T;NM_000540.2:c.7615-574C>T;NM_001042723.1:c.7615-574C>T 340454619 148948696 20100804_snps_12098160_chr19_38992573 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 3096454 2163824 TSC1196538 2.05e-01 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 40974803 2163824 hCV16143857 2.05e-01 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 81586723 2163824 Cor18555_SNV_20070510.chr19_43684452 2.05e-01 2007.11.30 2007.11.30 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 103437745 2163824 BGI_rs2163824 2.05e-01 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 168183186 2163824 NA07022_36_chr19_43684452 2.05e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 203750957 2163824 BUSHMAN-chr19-43684451 2.05e-01 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 208459889 2163824 BCM_CMT_1011-3110825 2.05e-01 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 210946302 2163824 CEU.trio.3.2010_162540_chr19_43684452 2.05e-01 2010.03.29 2010.03.29 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 228135778 2163824 pilot_1_YRI_9945461_chr19_43684452 2.05e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 237674209 2163824 pilot_1_CEU_7278838_chr19_43684452 2.05e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 243880990 2163824 pilot_1_CHB+JPT_5766067_chr19_43684452 2.05e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 255668575 2163824 SNP49661_19_43684452 2.05e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38992612C>A;NG_008866.1:g.73273C>A;NM_000540.2:c.7615-535C>A;NM_001042723.1:c.7615-535C>A 283205997 2163824 GMI_AK_SNP_7526418 2.05e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 96281039 74176445 1103691141832 2008.03.26 2008.03.26 2009.02.16 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 193510336 74176445 BUSHMAN-chr19-43684467-43684467 2010.02.16 2010.02.16 2009.02.16 2011.10.06 137 BL 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 256205632 74176445 SNP3812_19_43684467 2010.08.20 2010.08.20 2009.02.16 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 327903778 74176445 JPTCHB_chr19_43684467_indel 2011.03.13 2011.04.03 2009.02.16 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 328032202 74176445 CEU_chr19_43684467_indel 2011.03.13 2011.04.03 2009.02.16 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38992626_38992627insA;NG_008866.1:g.73287_73288insA;NM_000540.2:c.7615-521_7615-520insA;NM_001042723.1:c.7615-521_7615-520insA 328276236 74176445 YRI_chr19_43684467_indel 2011.03.13 2011.04.04 2009.02.16 2011.10.06 137 HGSV 6261 NC_000019.9:g.38992628_38992629insA;NG_008866.1:g.73289_73290insA;NM_000540.2:c.7615-519_7615-518insA;NM_001042723.1:c.7615-519_7615-518insA 81494695 58447433 Cor18555_DIV_20070510.chr19_43684477-43684478_1 2007.11.30 2007.11.30 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38992628_38992629insA;NG_008866.1:g.73289_73290insA;NM_000540.2:c.7615-519_7615-518insA;NM_001042723.1:c.7615-519_7615-518insA 102031595 58447433 INDEL_GP36_2008a_1746883_0 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38992628_38992629insA;NG_008866.1:g.73289_73290insA;NM_000540.2:c.7615-519_7615-518insA;NM_001042723.1:c.7615-519_7615-518insA 102031598 58447433 INDEL_GP36_2008a_1746883_1 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38992628A>G;NG_008866.1:g.73289A>G;NM_000540.2:c.7615-519A>G;NM_001042723.1:c.7615-519A>G 137670348 75871170 ENSSNP11444321 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 GMI 6261 NC_000019.9:g.38992628_38992629insA;NG_008866.1:g.73289_73290insA;NM_000540.2:c.7615-519_7615-518insA;NM_001042723.1:c.7615-519_7615-518insA 289387900 58447433 GMI_AK_INDEL_1065357 2010.12.30 2011.12.30 2007.12.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38992628_38992629insA;NG_008866.1:g.73289_73290insA;NM_000540.2:c.7615-519_7615-518insA;NM_001042723.1:c.7615-519_7615-518insA 294962535 58447433 DIP_400239_chr19_43684474 2011.01.22 2011.01.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992659T>C;NG_008866.1:g.73320T>C;NM_000540.2:c.7615-488T>C;NM_001042723.1:c.7615-488T>C 340454620 143693807 20100804_snps_12098161_chr19_38992659 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992663G>A;NG_008866.1:g.73324G>A;NM_000540.2:c.7615-484G>A;NM_001042723.1:c.7615-484G>A 465586837 181829928 20101123_snps_11754067_chr19_38992663 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38992667C>T;NG_008866.1:g.73328C>T;NM_000540.2:c.7615-480C>T;NM_001042723.1:c.7615-480C>T 228135779 116473242 pilot_1_YRI_9945462_chr19_43684507 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38992780G>A;NG_008866.1:g.73441G>A;NM_000540.2:c.7615-367G>A;NM_001042723.1:c.7615-367G>A 465586838 186336569 20101123_snps_11754068_chr19_38992780 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992780G>A;NG_008866.1:g.73441G>A;NM_000540.2:c.7615-367G>A;NM_001042723.1:c.7615-367G>A 482751191 186336569 HumanOmni2.5-4v1_D_kgp22782983-0_B_R_1860538801 5.00e-04 2012.02.01 2012.02.01 2011.09.17 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992780G>A;NG_008866.1:g.73441G>A;NM_000540.2:c.7615-367G>A;NM_001042723.1:c.7615-367G>A 483825991 186336569 HumanOmni2.5-4v1_B_SNP19-43684620-0_B_R_1635703454 5.00e-04 2012.02.03 2012.02.03 2011.09.17 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38992852C>T;NG_008866.1:g.73513C>T;NM_000540.2:c.7615-295C>T;NM_001042723.1:c.7615-295C>T 203750958 77022898 BUSHMAN-chr19-43684691 3.94e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992852C>T;NG_008866.1:g.73513C>T;NM_000540.2:c.7615-295C>T;NM_001042723.1:c.7615-295C>T 228135780 77022898 pilot_1_YRI_9945463_chr19_43684692 3.94e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992852C>T;NG_008866.1:g.73513C>T;NM_000540.2:c.7615-295C>T;NM_001042723.1:c.7615-295C>T 237674211 77022898 pilot_1_CEU_7278840_chr19_43684692 3.94e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992885A>G;NG_008866.1:g.73546A>G;NM_000540.2:c.7615-262A>G;NM_001042723.1:c.7615-262A>G 340454621 148037821 20100804_snps_12098162_chr19_38992885 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 4113612 2915947 AC011469.6_88506 1.54e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 44195363 2915947 hCV7821673 1.54e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 96305685 2915947 1103691141833 1.54e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 115120502 2915947 NA19240_2008_12_16_3257603_chr19_43684750 1.54e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 132762442 2915947 ENSSNP1527923 1.54e-01 2009.05.12 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 137670352 2915947 ENSSNP11444322 1.54e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 169707592 2915947 NA19240_36_chr19_43684750 1.54e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 203750959 2915947 BUSHMAN-chr19-43684749 1.54e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 228135781 2915947 pilot_1_YRI_9945464_chr19_43684750 1.54e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 237674212 2915947 pilot_1_CEU_7278841_chr19_43684750 1.54e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 243880992 2915947 pilot_1_CHB+JPT_5766069_chr19_43684750 1.54e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 255668581 2915947 SNP49662_19_43684750 1.54e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 483763871 2915947 HumanOmni2.5-4v1_D_kgp6651844-0_T_F_1816324841 1.54e-01 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38992910A>C;NG_008866.1:g.73571A>C;NM_000540.2:c.7615-237A>C;NM_001042723.1:c.7615-237A>C 483825993 2915947 HumanOmni2.5-4v1_B_SNP19-43684750-0_T_F_1622650125 1.54e-01 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993033G>T;NG_008866.1:g.73694G>T;NM_000540.2:c.7615-114G>T;NM_001042723.1:c.7615-114G>T 465586839 190392446 20101123_snps_11754069_chr19_38993033 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38993079C>T;NG_008866.1:g.73740C>T;NM_000540.2:c.7615-68C>T;NM_001042723.1:c.7615-68C>T 168183197 113858376 NA07022_36_chr19_43684919 2.43e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.38993079C>T;NG_008866.1:g.73740C>T;NM_000540.2:c.7615-68C>T;NM_001042723.1:c.7615-68C>T 255668586 113858376 SNP49663_19_43684919 2.43e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993079C>T;NG_008866.1:g.73740C>T;NM_000540.2:c.7615-68C>T;NM_001042723.1:c.7615-68C>T 340454622 113858376 20100804_snps_12098163_chr19_38993079 2.43e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993140G>A;NG_008866.1:g.73801G>A;NM_000540.2:c.7615-7G>A;NM_001042723.1:c.7615-7G>A 340454623 146159174 20100804_snps_12098164_chr19_38993140 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993140G>A;NG_008866.1:g.73801G>A;NM_000540.2:c.7615-7G>A;NM_001042723.1:c.7615-7G>A 491158037 146159174 20110521_exome_665835_chr19_38993140 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993163C>G;NG_008866.1:g.73824C>G;NM_000540.2:c.7631C>G;NM_001042723.1:c.7631C>G;NP_000531.2:p.Thr2544Ser;NP_001036188.1:p.Thr2544Ser 342496545 146326299 ESP2500-chr19-38993163 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38993163C>G;NG_008866.1:g.73824C>G;NM_000540.2:c.7631C>G;NM_001042723.1:c.7631C>G;NP_000531.2:p.Thr2544Ser;NP_001036188.1:p.Thr2544Ser 491546473 146326299 nonsyn_262699_chr_19_38993163 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7635G>C NC_000019.9:g.38993167G>C;NG_008866.1:g.73828G>C;NM_000540.2:c.7635G>C;NM_001042723.1:c.7635G>C;NP_000531.2:p.Glu2545Asp;NP_001036188.1:p.Glu2545Asp 475871590 193922820 RYR1_00132 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.7648C>G NC_000019.9:g.38993180C>G;NG_008866.1:g.73841C>G;NM_000540.2:c.7648C>G;NM_001042723.1:c.7648C>G;NP_000531.2:p.Leu2550Val;NP_001036188.1:p.Leu2550Val 475871591 193922821 RYR1_00178 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993185C>T;NG_008866.1:g.73846C>T;NM_000540.2:c.7653C>T;NM_001042723.1:c.7653C>T;NP_000531.2:p.Asn2551=;NP_001036188.1:p.Asn2551= 491766209 201166038 SNV-chr19-43685025 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993198C>T;NG_008866.1:g.73859C>T;NM_000540.2:c.7666C>T;NM_001042723.1:c.7666C>T;NP_000531.2:p.Leu2556=;NP_001036188.1:p.Leu2556= 340454624 138925222 20100804_snps_12098165_chr19_38993198 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.38993208T>A;NG_008866.1:g.73869T>A;NM_000540.2:c.7676T>A;NM_001042723.1:c.7676T>A;NP_000531.2:p.Leu2559Gln;NP_001036188.1:p.Leu2559Gln 342496546 139564550 ESP2500-chr19-38993208 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38993215C>T;NG_008866.1:g.73876C>T;NM_000540.2:c.7683C>T;NM_001042723.1:c.7683C>T;NP_000531.2:p.Leu2561=;NP_001036188.1:p.Leu2561= 342496547 144196095 ESP2500-chr19-38993215 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38993252C>T;NG_008866.1:g.73913C>T;NM_000540.2:c.7720C>T;NM_001042723.1:c.7720C>T;NP_000531.2:p.His2574Tyr;NP_001036188.1:p.His2574Tyr 342496548 144203769 ESP2500-chr19-38993252 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993259C>T;NG_008866.1:g.73920C>T;NM_000540.2:c.7727C>T;NM_001042723.1:c.7727C>T;NP_000531.2:p.Ala2576Val;NP_001036188.1:p.Ala2576Val 489164504 202144554 20110521_exome_255643_chr19_38993259 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993269G>A;NG_008866.1:g.73930G>A;NM_000540.2:c.7737G>A;NM_001042723.1:c.7737G>A;NP_000531.2:p.Val2579=;NP_001036188.1:p.Val2579= 228135782 114975624 pilot_1_YRI_9945465_chr19_43685109 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993269G>A;NG_008866.1:g.73930G>A;NM_000540.2:c.7737G>A;NM_001042723.1:c.7737G>A;NP_000531.2:p.Val2579=;NP_001036188.1:p.Val2579= 342496549 114975624 ESP2500-chr19-38993269 7.80e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993269G>A;NG_008866.1:g.73930G>A;NM_000540.2:c.7737G>A;NM_001042723.1:c.7737G>A;NP_000531.2:p.Val2579=;NP_001036188.1:p.Val2579= 482352718 114975624 HumanOmni2.5-4v1_D_kgp21533779-0_B_R_1844419831 7.80e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993269G>A;NG_008866.1:g.73930G>A;NM_000540.2:c.7737G>A;NM_001042723.1:c.7737G>A;NP_000531.2:p.Val2579=;NP_001036188.1:p.Val2579= 483825995 114975624 HumanOmni2.5-4v1_B_SNP19-43685109-0_B_R_1640315785 7.80e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993269G>A;NG_008866.1:g.73930G>A;NM_000540.2:c.7737G>A;NM_001042723.1:c.7737G>A;NP_000531.2:p.Val2579=;NP_001036188.1:p.Val2579= 491158038 114975624 20110521_exome_665836_chr19_38993269 7.80e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993296C>T;NG_008866.1:g.73957C>T;NM_000540.2:c.7764C>T;NM_001042723.1:c.7764C>T;NP_000531.2:p.Arg2588=;NP_001036188.1:p.Arg2588= 342496550 142441461 ESP2500-chr19-38993296 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.7771C>G NC_000019.9:g.38993303C>G;NC_000019.9:g.38993303C>T;NG_008866.1:g.73964C>G;NG_008866.1:g.73964C>T;NM_000540.2:c.7771C>G;NM_000540.2:c.7771C>T;NM_001042723.1:c.7771C>G;NM_001042723.1:c.7771C>T;NP_000531.2:p.Arg2591Gly;NP_000531.2:p.Arg2591Trp;NP_001036188.1:p.Arg2591Gly;NP_001036188.1:p.Arg2591Trp 475871592 193922822 RYR1_00268 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7771C>T NC_000019.9:g.38993303C>G;NC_000019.9:g.38993303C>T;NG_008866.1:g.73964C>G;NG_008866.1:g.73964C>T;NM_000540.2:c.7771C>G;NM_000540.2:c.7771C>T;NM_001042723.1:c.7771C>G;NM_001042723.1:c.7771C>T;NP_000531.2:p.Arg2591Gly;NP_000531.2:p.Arg2591Trp;NP_001036188.1:p.Arg2591Gly;NP_001036188.1:p.Arg2591Trp 475871593 193922822 RYR1_00149 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7787C>T NC_000019.9:g.38993319C>T;NG_008866.1:g.73980C>T;NM_000540.2:c.7787C>T;NM_001042723.1:c.7787C>T;NP_000531.2:p.Thr2596Ile;NP_001036188.1:p.Thr2596Ile 475871594 193922824 RYR1_00146 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38993320C>T;NG_008866.1:g.73981C>T;NM_000540.2:c.7788C>T;NM_001042723.1:c.7788C>T;NP_000531.2:p.Thr2596=;NP_001036188.1:p.Thr2596= 489164507 199636890 20110521_exome_255644_chr19_38993320 2.70e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993329G>A;NG_008866.1:g.73990G>A;NM_000540.2:c.7797G>A;NM_001042723.1:c.7797G>A;NP_000531.2:p.Gln2599=;NP_001036188.1:p.Gln2599= 342496551 151309597 ESP2500-chr19-38993329 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993331G>A;NG_008866.1:g.73992G>A;NM_000540.2:c.7799G>A;NM_001042723.1:c.7799G>A;NP_000531.2:p.Arg2600His;NP_001036188.1:p.Arg2600His 489164509 201749008 20110521_exome_255645_chr19_38993331 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993341C>T;NG_008866.1:g.74002C>T;NM_000540.2:c.7809C>T;NM_001042723.1:c.7809C>T;NP_000531.2:p.Ile2603=;NP_001036188.1:p.Ile2603= 489164511 200542387 20110521_exome_255646_chr19_38993341 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993351C>T;NG_008866.1:g.74012C>T;NM_000540.2:c.7819C>T;NM_001042723.1:c.7819C>T;NP_000531.2:p.Leu2607Phe;NP_001036188.1:p.Leu2607Phe 489164513 199802423 20110521_exome_255647_chr19_38993351 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993359G>A;NG_008866.1:g.74020G>A;NM_000540.2:c.7827G>A;NM_001042723.1:c.7827G>A;NP_000531.2:p.Ser2609=;NP_001036188.1:p.Ser2609= 489164515 201827284 20110521_exome_255648_chr19_38993359 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993362C>T;NG_008866.1:g.74023C>T;NM_000540.2:c.7830C>T;NM_001042723.1:c.7830C>T;NP_000531.2:p.Leu2610=;NP_001036188.1:p.Leu2610= 342496552 140063541 ESP2500-chr19-38993362 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993362C>T;NG_008866.1:g.74023C>T;NM_000540.2:c.7830C>T;NM_001042723.1:c.7830C>T;NP_000531.2:p.Leu2610=;NP_001036188.1:p.Leu2610= 489164517 140063541 20110521_exome_255649_chr19_38993362 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 2290413 1469695 TSC0387549 3.73e-01 germline untested 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 4113613 1469695 AC011469.6_88968 3.73e-01 unknown untested 2001.10.15 2003.10.10 2000.10.23 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 4931873 1469695 IMS-JST097352 3.73e-01 unknown untested 2002.08.01 2003.10.10 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 40969618 1469695 hCV8709868 3.73e-01 unknown untested 2005.07.17 2005.07.17 2000.10.23 2012.11.28 137 HGSV 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 84649453 1469695 Cor19129_SNV_20070510.chr19_43685212 3.73e-01 germline untested 2007.12.07 2007.12.07 2000.10.23 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 90969910 1469695 JWB-1168190 3.73e-01 germline untested 2008.03.01 2008.03.01 2000.10.23 2012.11.28 137 BGI 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 103437746 1469695 BGI_rs1469695 3.73e-01 germline untested 2008.06.06 2009.06.17 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 137670355 1469695 ENSSNP11444323 3.73e-01 germline untested 2009.05.16 2009.05.16 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 161063692 1469695 HumanOmni1-Quad_v1-0_B_SNP19-43685212-0_T_F_1588130980 3.73e-01 unknown untested 2009.08.07 2009.10.05 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 208539352 1469695 BCM_CMT_1011-3137769 3.73e-01 germline untested 2010.03.19 2010.03.19 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 228135783 1469695 pilot_1_YRI_9945466_chr19_43685212 3.73e-01 unknown untested 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 237674213 1469695 pilot_1_CEU_7278842_chr19_43685212 3.73e-01 germline untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 243880993 1469695 pilot_1_CHB+JPT_5766070_chr19_43685212 3.73e-01 unknown untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7835+5A>G NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 475871595 1469695 RYR1_00355 3.73e-01 unknown untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 479293517 1469695 HumanOmni1-Quad_v1-0_C_kgp2220709-0_T_F_1816107434 3.73e-01 unknown untested 2012.01.30 2012.01.30 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 491158039 1469695 20110521_exome_665837_chr19_38993372 3.73e-01 unknown untested 2012.02.22 2012.02.22 2000.10.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993372A>G;NG_008866.1:g.74033A>G;NM_000540.2:c.7835+5A>G;NM_001042723.1:c.7835+5A>G 491766210 1469695 SNV-chr19-43685212 3.73e-01 germline untested 2012.03.07 2012.03.13 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993374C>T;NG_008866.1:g.74035C>T;NM_000540.2:c.7835+7C>T;NM_001042723.1:c.7835+7C>T 228135784 114522234 pilot_1_YRI_9945467_chr19_43685214 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993374C>T;NG_008866.1:g.74035C>T;NM_000540.2:c.7835+7C>T;NM_001042723.1:c.7835+7C>T 491158040 114522234 20110521_exome_665838_chr19_38993374 1.51e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38993392delG;NC_000019.9:g.38993392delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NG_008866.1:g.74053delG;NG_008866.1:g.74053delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_000540.2:c.7835+25delG;NM_000540.2:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_001042723.1:c.7835+25delG;NM_001042723.1:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA 8479560 6146523 INDEL_GP31_3377 2003.04.18 2003.10.10 2003.04.21 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38993392delG;NC_000019.9:g.38993392delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NG_008866.1:g.74053delG;NG_008866.1:g.74053delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_000540.2:c.7835+25delG;NM_000540.2:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_001042723.1:c.7835+25delG;NM_001042723.1:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA 49993553 6146523 INDEL_GP35_TSC_655308 2006.01.23 2006.01.23 2003.04.21 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38993392delG;NC_000019.9:g.38993392delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NG_008866.1:g.74053delG;NG_008866.1:g.74053delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_000540.2:c.7835+25delG;NM_000540.2:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA;NM_001042723.1:c.7835+25delG;NM_001042723.1:c.7835+25delGinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA 100007593 6146523 INDEL_GP36_2007a_229114_0 2008.05.16 2008.05.16 2003.04.21 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38993394G>C;NG_008866.1:g.74055G>C;NM_000540.2:c.7835+27G>C;NM_001042723.1:c.7835+27G>C 4171557 2960325 AC091486.2_20965 1.51e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993394G>C;NG_008866.1:g.74055G>C;NM_000540.2:c.7835+27G>C;NM_001042723.1:c.7835+27G>C 465586840 2960325 20101123_snps_11754070_chr19_38993394 1.51e-02 2011.07.20 2011.07.20 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993394G>C;NG_008866.1:g.74055G>C;NM_000540.2:c.7835+27G>C;NM_001042723.1:c.7835+27G>C 491158041 2960325 20110521_exome_665839_chr19_38993394 1.51e-02 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38993396_38993401delCAGGGG;NG_008866.1:g.74057_74062delCAGGGG;NM_000540.2:c.7835+29_7835+34delCAGGGG;NM_001042723.1:c.7835+29_7835+34delCAGGGG 95728337 71165552 1104685411603 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38993397_38993402delAGGGGC;NG_008866.1:g.74058_74063delAGGGGC;NM_000540.2:c.7835+30_7835+35delAGGGGC;NM_001042723.1:c.7835+30_7835+35delAGGGGC 101819129 72286021 INDEL_GP36_2008a_1198091_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993399G>A;NG_008866.1:g.74060G>A;NM_000540.2:c.7835+32G>A;NM_001042723.1:c.7835+32G>A 465586841 185314674 20101123_snps_11754071_chr19_38993399 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38993405G>A;NG_008866.1:g.74066G>A;NM_000540.2:c.7835+38G>A;NM_001042723.1:c.7835+38G>A 465586842 191156697 20101123_snps_11754072_chr19_38993405 7.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.38993435_38993438delGGGC;NG_008866.1:g.74096_74099delGGGC;NM_000540.2:c.7835+68_7835+71delGGGC;NM_001042723.1:c.7835+68_7835+71delGGGC 81597642 59900813 Cor19129_DIV_20070510.chr19_43685274-43685279_1 2007.11.30 2007.11.30 2007.12.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993449_38993454delGGAGGA;NG_008866.1:g.74110_74115delGGAGGA;NM_000540.2:c.7836-71_7836-66delGGAGGA;NM_001042723.1:c.7836-71_7836-66delGGAGGA 328276237 144244037 YRI_chr19_43685288_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.38993450G>C;NG_008866.1:g.74111G>C;NM_000540.2:c.7836-70G>C;NM_001042723.1:c.7836-70G>C 2290414 1469696 TSC0387550 unknown untested 2000.10.20 2003.10.10 2000.10.23 2013.01.31 137 BCMHGSC_JDW 6261 NC_000019.9:g.38993450G>C;NG_008866.1:g.74111G>C;NM_000540.2:c.7836-70G>C;NM_001042723.1:c.7836-70G>C 90969912 1469696 JWB-1168191 unknown untested 2008.03.01 2008.03.01 2000.10.23 2013.01.31 137 ENSEMBL 6261 NC_000019.9:g.38993450G>C;NG_008866.1:g.74111G>C;NM_000540.2:c.7836-70G>C;NM_001042723.1:c.7836-70G>C 137670358 1469696 ENSSNP11444324 unknown untested 2009.05.16 2009.05.16 2000.10.23 2013.01.31 137 LUMC-LOVD 6261 NM_000540.2:c.7836-70G>C NC_000019.9:g.38993450G>C;NG_008866.1:g.74111G>C;NM_000540.2:c.7836-70G>C;NM_001042723.1:c.7836-70G>C 475871596 1469696 RYR1_00357 germline untested 2011.11.25 2011.11.25 2000.10.23 2013.01.31 137 TSC-CSHL 6261 NC_000019.9:g.38993454A>G;NG_008866.1:g.74115A>G;NM_000540.2:c.7836-66A>G;NM_001042723.1:c.7836-66A>G 2290415 1469697 TSC0387551 unknown untested 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38993454A>G;NG_008866.1:g.74115A>G;NM_000540.2:c.7836-66A>G;NM_001042723.1:c.7836-66A>G 90969914 1469697 JWB-1168192 germline untested 2008.03.01 2008.03.01 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38993454A>G;NG_008866.1:g.74115A>G;NM_000540.2:c.7836-66A>G;NM_001042723.1:c.7836-66A>G 137670361 1469697 ENSSNP11444325 unknown untested 2009.05.16 2009.05.16 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7836-66A>G NC_000019.9:g.38993454A>G;NG_008866.1:g.74115A>G;NM_000540.2:c.7836-66A>G;NM_001042723.1:c.7836-66A>G 475871597 1469697 RYR1_00356 unknown untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38993467delG;NC_000019.9:g.38993467delGinsGAGGAGCAGGGGCAGGGG;NG_008866.1:g.74128delG;NG_008866.1:g.74128delGinsGAGGAGCAGGGGCAGGGG;NM_000540.2:c.7836-53delG;NM_000540.2:c.7836-53delGinsGAGGAGCAGGGGCAGGGG;NM_001042723.1:c.7836-53delG;NM_001042723.1:c.7836-53delGinsGAGGAGCAGGGGCAGGGG 101431752 72188460 INDEL_GP36_2008a_2851586_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993484G>T;NG_008866.1:g.74145G>T;NM_000540.2:c.7836-36G>T;NM_001042723.1:c.7836-36G>T 489164519 199987776 20110521_exome_255650_chr19_38993484 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993491_38993492insA;NG_008866.1:g.74152_74153insA;NM_000540.2:c.7836-29_7836-28insA;NM_001042723.1:c.7836-29_7836-28insA 499576320 199849275 20110316_indels_chr19_38993491_38993492 4.10e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993495C>T;NG_008866.1:g.74156C>T;NM_000540.2:c.7836-25C>T;NM_001042723.1:c.7836-25C>T 489164521 201945985 20110521_exome_255651_chr19_38993495 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993501C>T;NG_008866.1:g.74162C>T;NM_000540.2:c.7836-19C>T;NM_001042723.1:c.7836-19C>T 489164523 201378267 20110521_exome_255652_chr19_38993501 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993503T>C;NG_008866.1:g.74164T>C;NM_000540.2:c.7836-17T>C;NM_001042723.1:c.7836-17T>C 340454625 142720065 20100804_snps_12098166_chr19_38993503 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993503T>C;NG_008866.1:g.74164T>C;NM_000540.2:c.7836-17T>C;NM_001042723.1:c.7836-17T>C 491158042 142720065 20110521_exome_665840_chr19_38993503 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993528G>A;NG_008866.1:g.74189G>A;NM_000540.2:c.7844G>A;NM_001042723.1:c.7844G>A;NP_000531.2:p.Arg2615His;NP_001036188.1:p.Arg2615His 342496553 145183043 ESP2500-chr19-38993528 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38993528G>A;NG_008866.1:g.74189G>A;NM_000540.2:c.7844G>A;NM_001042723.1:c.7844G>A;NP_000531.2:p.Arg2615His;NP_001036188.1:p.Arg2615His 491546474 145183043 nonsyn_262700_chr_19_38993528 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993532G>C;NG_008866.1:g.74193G>C;NM_000540.2:c.7848G>C;NM_001042723.1:c.7848G>C;NP_000531.2:p.Pro2616=;NP_001036188.1:p.Pro2616= 491766211 200708363 SNV-chr19-43685372 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993544G>A;NG_008866.1:g.74205G>A;NM_000540.2:c.7860G>A;NM_001042723.1:c.7860G>A;NP_000531.2:p.Gln2620=;NP_001036188.1:p.Gln2620= 342496554 147587000 ESP2500-chr19-38993544 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993544G>A;NG_008866.1:g.74205G>A;NM_000540.2:c.7860G>A;NM_001042723.1:c.7860G>A;NP_000531.2:p.Gln2620=;NP_001036188.1:p.Gln2620= 489164525 147587000 20110521_exome_255653_chr19_38993544 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 3176131 2229142 WIAF-14809 2.02e-01 germline untested 2001.06.28 2003.10.10 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 111365705 2229142 CEU.trio.12.15.2008_3616649_chr19_43685387 2.02e-01 germline untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 117702598 2229142 NA18507_000043890_NCBI36.1_chr19_43685387 2.02e-01 germline untested 2009.01.20 2009.01.20 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 159739632 2229142 RYR1-43685387 2.02e-01 germline untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 168183208 2229142 NA07022_36_chr19_43685387 2.02e-01 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 203750960 2229142 BUSHMAN-chr19-43685386 2.02e-01 germline untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 208546468 2229142 BCM_CMT_1011-3140149 2.02e-01 germline untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 228135786 2229142 pilot_1_YRI_9945469_chr19_43685387 2.02e-01 germline untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 237674214 2229142 pilot_1_CEU_7278843_chr19_43685387 2.02e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 243880994 2229142 pilot_1_CHB+JPT_5766071_chr19_43685387 2.02e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 255668592 2229142 SNP49664_19_43685387 2.02e-01 unknown untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 283205998 2229142 GMI_AK_SNP_7526419 2.02e-01 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 342496555 2229142 ESP2500-chr19-38993547 2.02e-01 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7863C>T NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 475871598 2229142 RYR1_00014 2.02e-01 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 491158043 2229142 20110521_exome_665841_chr19_38993547 2.02e-01 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993547C>T;NG_008866.1:g.74208C>T;NM_000540.2:c.7863C>T;NM_001042723.1:c.7863C>T;NP_000531.2:p.His2621=;NP_001036188.1:p.His2621= 491766212 2229142 SNV-chr19-43685387 2.02e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 2290416 1469698 TSC0387552 1.63e-01 germline untested 2000.10.20 2004.05.16 2000.10.23 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 3176132 1469698 WIAF-14810 1.63e-01 germline untested 2001.06.28 2004.04.07 2000.10.23 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 4171558 1469698 AC091486.2_21103 1.63e-01 germline untested 2001.10.15 2003.10.10 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 44173151 1469698 hCV8709862 1.63e-01 germline untested 2005.07.18 2005.07.18 2000.10.23 2012.11.28 137 HGSV 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 85736411 1469698 Cor19129_SNV_20070510.chr19_43685396 1.63e-01 germline untested 2007.12.10 2007.12.10 2000.10.23 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 90969917 1469698 JWB-1168193 1.63e-01 germline untested 2008.03.01 2008.03.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 115120519 1469698 NA19240_2008_12_16_3257605_chr19_43685396 1.63e-01 unknown untested 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 137670363 1469698 ENSSNP11444326 1.63e-01 germline untested 2009.05.16 2009.05.16 2000.10.23 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 159739633 1469698 RYR1-43685396 1.63e-01 germline untested 2009.07.10 2009.07.10 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 160358289 1469698 HumanOmni1-Quad_v1-0_B_rs1469698-128_T_R_1562496877 1.63e-01 germline untested 2009.08.06 2009.10.02 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 168988809 1469698 Human1M-Duov3_B_GA016295-0_T_R_1533446565 1.63e-01 unknown untested 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 169707615 1469698 NA19240_36_chr19_43685396 1.63e-01 germline untested 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 203750961 1469698 BUSHMAN-chr19-43685395 1.63e-01 germline untested 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 228135787 1469698 pilot_1_YRI_9945470_chr19_43685396 1.63e-01 unknown untested 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 237674215 1469698 pilot_1_CEU_7278844_chr19_43685396 1.63e-01 germline untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 PJP 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 292248504 1469698 SNP_1754862_chr19_43685396 1.63e-01 unknown untested 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 342496556 1469698 ESP2500-chr19-38993556 1.63e-01 germline untested 2011.03.27 2011.03.27 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7872C>T NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 475871599 1469698 RYR1_00056 1.63e-01 germline untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 480650878 1469698 HumanOmni1-Quad_v1-0_C_rs1469698-131_T_R_1863358975 1.63e-01 germline untested 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 491158044 1469698 20110521_exome_665842_chr19_38993556 1.63e-01 germline untested 2012.02.22 2012.02.22 2000.10.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993556C>T;NG_008866.1:g.74217C>T;NM_000540.2:c.7872C>T;NM_001042723.1:c.7872C>T;NP_000531.2:p.Arg2624=;NP_001036188.1:p.Arg2624= 491766213 1469698 SNV-chr19-43685396 1.63e-01 germline untested 2012.03.07 2012.03.13 2000.10.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993560C>T;NG_008866.1:g.74221C>T;NM_000540.2:c.7876C>T;NM_001042723.1:c.7876C>T;NP_000531.2:p.Leu2626=;NP_001036188.1:p.Leu2626= 342496557 145446438 ESP2500-chr19-38993560 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38993560C>T;NG_008866.1:g.74221C>T;NM_000540.2:c.7876C>T;NM_001042723.1:c.7876C>T;NP_000531.2:p.Leu2626=;NP_001036188.1:p.Leu2626= 465586843 145446438 20101123_snps_11754073_chr19_38993560 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 NHLBI-ESP 6261 NC_000019.9:g.38993562G>A;NG_008866.1:g.74223G>A;NM_000540.2:c.7878G>A;NM_001042723.1:c.7878G>A;NP_000531.2:p.Leu2626=;NP_001036188.1:p.Leu2626= 342496558 148907377 ESP2500-chr19-38993562 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993565G>A;NG_008866.1:g.74226G>A;NM_000540.2:c.7881G>A;NM_001042723.1:c.7881G>A;NP_000531.2:p.Val2627=;NP_001036188.1:p.Val2627= 489164527 201877620 20110521_exome_255654_chr19_38993565 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7888G>C NC_000019.9:g.38993572G>C;NG_008866.1:g.74233G>C;NM_000540.2:c.7888G>C;NM_001042723.1:c.7888G>C;NP_000531.2:p.Val2630Leu;NP_001036188.1:p.Val2630Leu 475871600 193922825 RYR1_00269 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.38993577C>T;NG_008866.1:g.74238C>T;NM_000540.2:c.7893C>T;NM_001042723.1:c.7893C>T;NP_000531.2:p.Pro2631=;NP_001036188.1:p.Pro2631= 342496559 143594614 ESP2500-chr19-38993577 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38993580C>G;NG_008866.1:g.74241C>G;NM_000540.2:c.7896C>G;NM_001042723.1:c.7896C>G;NP_000531.2:p.Ile2632Met;NP_001036188.1:p.Ile2632Met 489164529 201090618 20110521_exome_255655_chr19_38993580 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993586C>A;NG_008866.1:g.74247C>A;NM_000540.2:c.7902C>A;NM_001042723.1:c.7902C>A;NP_000531.2:p.Asn2634Lys;NP_001036188.1:p.Asn2634Lys 342496560 148041292 ESP2500-chr19-38993586 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38993586C>A;NG_008866.1:g.74247C>A;NM_000540.2:c.7902C>A;NM_001042723.1:c.7902C>A;NP_000531.2:p.Asn2634Lys;NP_001036188.1:p.Asn2634Lys 491546475 148041292 nonsyn_262701_chr_19_38993586 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993586C>A;NG_008866.1:g.74247C>A;NM_000540.2:c.7902C>A;NM_001042723.1:c.7902C>A;NP_000531.2:p.Asn2634Lys;NP_001036188.1:p.Asn2634Lys 491766214 148041292 SNV-chr19-43685426 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38993607C>G;NG_008866.1:g.74268C>G;NM_000540.2:c.7923C>G;NM_001042723.1:c.7923C>G;NP_000531.2:p.Leu2641=;NP_001036188.1:p.Leu2641= 342496561 142558977 ESP2500-chr19-38993607 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38993607C>G;NG_008866.1:g.74268C>G;NM_000540.2:c.7923C>G;NM_001042723.1:c.7923C>G;NP_000531.2:p.Leu2641=;NP_001036188.1:p.Leu2641= 491766215 142558977 SNV-chr19-43685447 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38993611G>C;NG_008866.1:g.74272G>C;NM_000540.2:c.7926+1G>C;NM_001042723.1:c.7926+1G>C 169117157 113564860 Human1M-Duov3_B_GA034482-0_T_R_1533482359 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38993611G>C;NG_008866.1:g.74272G>C;NM_000540.2:c.7926+1G>C;NM_001042723.1:c.7926+1G>C 203750962 113564860 BUSHMAN-chr19-43685450 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.38993621G>A;NG_008866.1:g.74282G>A;NM_000540.2:c.7926+11G>A;NM_001042723.1:c.7926+11G>A 203750963 112124868 BUSHMAN-chr19-43685460 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 2290417 1469699 TSC0387553 3.77e-01 germline untested 2000.10.20 2004.05.16 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 44192530 1469699 hCV7821672 3.77e-01 germline untested 2005.07.18 2006.11.03 2000.10.23 2012.11.28 137 HGSV 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 85675916 1469699 Cor19129_SNV_20070510.chr19_43685478 3.77e-01 unknown untested 2007.12.09 2007.12.09 2000.10.23 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 90969919 1469699 JWB-1168194 3.77e-01 germline untested 2008.03.01 2008.03.01 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 96305686 1469699 1103691141834 3.77e-01 germline untested 2008.03.26 2008.03.26 2000.10.23 2012.11.28 137 BGI 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 103437747 1469699 BGI_rs1469699 3.77e-01 germline untested 2008.06.06 2009.06.17 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 115120527 1469699 NA19240_2008_12_16_3257606_chr19_43685478 3.77e-01 germline untested 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 117702600 1469699 NA18507_000043891_NCBI36.1_chr19_43685478 3.77e-01 unknown untested 2009.01.20 2009.01.20 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 137670367 1469699 ENSSNP11444327 3.77e-01 germline untested 2009.05.16 2009.05.16 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 168183217 1469699 NA07022_36_chr19_43685478 3.77e-01 germline untested 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 169707633 1469699 NA19240_36_chr19_43685478 3.77e-01 germline untested 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 203750964 1469699 BUSHMAN-chr19-43685477 3.77e-01 germline untested 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 208482665 1469699 BCM_CMT_1011-3118313 3.77e-01 unknown untested 2010.03.19 2010.03.19 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 228135788 1469699 pilot_1_YRI_9945471_chr19_43685478 3.77e-01 germline untested 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 237674216 1469699 pilot_1_CEU_7278845_chr19_43685478 3.77e-01 unknown untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 243880995 1469699 pilot_1_CHB+JPT_5766072_chr19_43685478 3.77e-01 germline untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 BL 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 255668595 1469699 SNP49665_19_43685478 3.77e-01 unknown untested 2010.08.20 2010.08.20 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 283205999 1469699 GMI_AK_SNP_7526420 3.77e-01 germline untested 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7926+28A>G NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 475871601 1469699 RYR1_00358 3.77e-01 unknown untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993638A>G;NG_008866.1:g.74299A>G;NM_000540.2:c.7926+28A>G;NM_001042723.1:c.7926+28A>G 491158045 1469699 20110521_exome_665843_chr19_38993638 3.77e-01 germline untested 2012.02.22 2012.02.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38993669C>T;NG_008866.1:g.74330C>T;NM_000540.2:c.7926+59C>T;NM_001042723.1:c.7926+59C>T 465586844 187540439 20101123_snps_11754074_chr19_38993669 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38993771C>T;NG_008866.1:g.74432C>T;NM_000540.2:c.7926+161C>T;NM_001042723.1:c.7926+161C>T 203750965 111227660 BUSHMAN-chr19-43685610 2.79e-02 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38993771C>T;NG_008866.1:g.74432C>T;NM_000540.2:c.7926+161C>T;NM_001042723.1:c.7926+161C>T 228135789 111227660 pilot_1_YRI_9945472_chr19_43685611 2.79e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38993774A>G;NG_008866.1:g.74435A>G;NM_000540.2:c.7926+164A>G;NM_001042723.1:c.7926+164A>G 465586845 191080784 20101123_snps_11754075_chr19_38993774 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38993795A>C;NG_008866.1:g.74456A>C;NM_000540.2:c.7926+185A>C;NM_001042723.1:c.7926+185A>C 465586846 183277852 20101123_snps_11754076_chr19_38993795 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38993864C>T;NG_008866.1:g.74525C>T;NM_000540.2:c.7926+254C>T;NM_001042723.1:c.7926+254C>T 465586847 187900242 20101123_snps_11754077_chr19_38993864 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38994023_38994024insT;NG_008866.1:g.74684_74685insT;NM_000540.2:c.7926+413_7926+414insT;NM_001042723.1:c.7926+413_7926+414insT 499576324 201427712 20110316_indels_chr19_38994023_38994024 6.00e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994048C>T;NG_008866.1:g.74709C>T;NM_000540.2:c.7926+438C>T;NM_001042723.1:c.7926+438C>T 465586848 191990434 20101123_snps_11754078_chr19_38994048 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.38994051_38994052delAA;NG_008866.1:g.74712_74713delAA;NM_000540.2:c.7926+441_7926+442delAA;NM_001042723.1:c.7926+441_7926+442delAA 289387901 147894633 GMI_AK_INDEL_1065358 7.92e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994051_38994052delAA;NG_008866.1:g.74712_74713delAA;NM_000540.2:c.7926+441_7926+442delAA;NM_001042723.1:c.7926+441_7926+442delAA 327903781 147894633 JPTCHB_chr19_43685890_indel 7.92e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994051_38994052delAA;NG_008866.1:g.74712_74713delAA;NM_000540.2:c.7926+441_7926+442delAA;NM_001042723.1:c.7926+441_7926+442delAA 328032203 147894633 CEU_chr19_43685890_indel 7.92e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994051_38994052delAA;NG_008866.1:g.74712_74713delAA;NM_000540.2:c.7926+441_7926+442delAA;NM_001042723.1:c.7926+441_7926+442delAA 499576328 147894633 20110316_indels_chr19_38994050_38994051 7.92e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.38994052A>G;NC_000019.9:g.38994052A>T;NG_008866.1:g.74713A>G;NG_008866.1:g.74713A>T;NM_000540.2:c.7926+442A>G;NM_000540.2:c.7926+442A>T;NM_001042723.1:c.7926+442A>G;NM_001042723.1:c.7926+442A>T 283206000 184481015 GMI_AK_SNP_7526421 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.38994052A>G;NC_000019.9:g.38994052A>T;NG_008866.1:g.74713A>G;NG_008866.1:g.74713A>T;NM_000540.2:c.7926+442A>G;NM_000540.2:c.7926+442A>T;NM_001042723.1:c.7926+442A>G;NM_001042723.1:c.7926+442A>T 469257091 184481015 Chromosome19_43685892 2011.08.15 2011.08.15 2011.09.17 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 6628665 4802515 NT_011109.13_1149091 3.65e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 44157962 4802515 hCV7821671 3.65e-01 2005.07.18 2008.03.31 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 76529748 4802515 AFFY_6_1M_SNP_A-8390857 3.65e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 80895732 4802515 Cor18507_SNV_20070510.chr19_43685916 3.65e-01 2007.11.27 2007.11.27 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 84841919 4802515 Cor19240_SNV_20070510.chr19_43685916 3.65e-01 2007.12.08 2007.12.08 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 85791823 4802515 Cor19129_SNV_20070510.chr19_43685916 3.65e-01 2007.12.10 2007.12.10 2003.02.20 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 90969923 4802515 JWB-1168195 3.65e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 96305687 4802515 1103691141835 3.65e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 BGI 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 103437748 4802515 BGI_rs4802515 3.65e-01 2008.06.06 2009.06.17 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 104905214 4802515 KHS1297537 3.65e-01 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 111365713 4802515 CEU.trio.12.15.2008_3616650_chr19_43685916 3.65e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 115120540 4802515 NA19240_2008_12_16_3257607_chr19_43685916 3.65e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 117702601 4802515 NA18507_000043892_NCBI36.1_chr19_43685916 3.65e-01 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 137670369 4802515 ENSSNP6713813 3.65e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 168183231 4802515 NA07022_36_chr19_43685916 3.65e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 169707650 4802515 NA19240_36_chr19_43685916 3.65e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 203750966 4802515 BUSHMAN-chr19-43685915 3.65e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 208389792 4802515 BCM_CMT_1011-3087525 3.65e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 228135790 4802515 pilot_1_YRI_9945473_chr19_43685916 3.65e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 237674217 4802515 pilot_1_CEU_7278846_chr19_43685916 3.65e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 243880996 4802515 pilot_1_CHB+JPT_5766073_chr19_43685916 3.65e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 255668600 4802515 SNP49666_19_43685916 3.65e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 283206001 4802515 GMI_AK_SNP_7526422 3.65e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.38994076T>C;NG_008866.1:g.74737T>C;NM_000540.2:c.7926+466T>C;NM_001042723.1:c.7926+466T>C 292248505 4802515 SNP_1754863_chr19_43685916 3.65e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994345G>A;NG_008866.1:g.75006G>A;NM_000540.2:c.7927-515G>A;NM_001042723.1:c.7927-515G>A 465586849 184497106 20101123_snps_11754079_chr19_38994345 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38994388G>T;NG_008866.1:g.75049G>T;NM_000540.2:c.7927-472G>T;NM_001042723.1:c.7927-472G>T 340454630 148562958 20100804_snps_12098171_chr19_38994388 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38994412_38994413insA;NG_008866.1:g.75073_75074insA;NM_000540.2:c.7927-448_7927-447insA;NM_001042723.1:c.7927-448_7927-447insA 15258090 11375717 INDEL_GP34_WGS_394018 2003.11.13 2003.11.22 2004.02.28 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38994412_38994413insA;NG_008866.1:g.75073_75074insA;NM_000540.2:c.7927-448_7927-447insA;NM_001042723.1:c.7927-448_7927-447insA 96281040 11375717 1103691141836 2008.03.26 2008.03.26 2004.02.28 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38994413_38994414insA;NC_000019.9:g.38994413_38994414insAA;NG_008866.1:g.75074_75075insA;NG_008866.1:g.75074_75075insAA;NM_000540.2:c.7927-447_7927-446insA;NM_000540.2:c.7927-447_7927-446insAA;NM_001042723.1:c.7927-447_7927-446insA;NM_001042723.1:c.7927-447_7927-446insAA 15328358 11440433 INDEL_GP34_WGS_475537 2003.11.13 2003.11.22 2004.02.28 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38994413_38994414insA;NC_000019.9:g.38994413_38994414insAA;NG_008866.1:g.75074_75075insA;NG_008866.1:g.75074_75075insAA;NM_000540.2:c.7927-447_7927-446insA;NM_000540.2:c.7927-447_7927-446insAA;NM_001042723.1:c.7927-447_7927-446insA;NM_001042723.1:c.7927-447_7927-446insAA 50347592 11440433 INDEL_GP35_WGS_623733 2006.01.24 2006.01.24 2004.02.28 2012.05.16 137 HGSV 6261 NC_000019.9:g.38994413_38994414insA;NC_000019.9:g.38994413_38994414insAA;NG_008866.1:g.75074_75075insA;NG_008866.1:g.75074_75075insAA;NM_000540.2:c.7927-447_7927-446insA;NM_000540.2:c.7927-447_7927-446insAA;NM_001042723.1:c.7927-447_7927-446insA;NM_001042723.1:c.7927-447_7927-446insAA 82791834 11440433 Cor19240_DIV_20070510.chr19_43686268-43686269_1 2007.12.03 2007.12.03 2004.02.28 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38994413_38994414insA;NC_000019.9:g.38994413_38994414insAA;NG_008866.1:g.75074_75075insA;NG_008866.1:g.75074_75075insAA;NM_000540.2:c.7927-447_7927-446insA;NM_000540.2:c.7927-447_7927-446insAA;NM_001042723.1:c.7927-447_7927-446insA;NM_001042723.1:c.7927-447_7927-446insAA 99377246 11440433 INDEL_GP36_2007a_126475_0 2008.05.05 2008.05.05 2004.02.28 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38994413delA;NG_008866.1:g.75074delA;NM_000540.2:c.7927-447delA;NM_001042723.1:c.7927-447delA 193510338 112931125 BUSHMAN-chr19-43686252-43686253 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38994421_38994422insA;NC_000019.9:g.38994421_38994422insAA;NG_008866.1:g.75082_75083insA;NG_008866.1:g.75082_75083insAA;NM_000540.2:c.7927-439_7927-438insA;NM_000540.2:c.7927-439_7927-438insAA;NM_001042723.1:c.7927-439_7927-438insA;NM_001042723.1:c.7927-439_7927-438insAA 50265758 35908725 INDEL_GP35_WGS_517788 2006.01.24 2006.01.24 2006.03.15 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38994421_38994422insA;NC_000019.9:g.38994421_38994422insAA;NG_008866.1:g.75082_75083insA;NG_008866.1:g.75082_75083insAA;NM_000540.2:c.7927-439_7927-438insA;NM_000540.2:c.7927-439_7927-438insAA;NM_001042723.1:c.7927-439_7927-438insA;NM_001042723.1:c.7927-439_7927-438insAA 99626354 35908725 INDEL_GP36_2007a_100306_0 2008.05.05 2008.05.05 2006.03.15 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38994421_38994422insA;NC_000019.9:g.38994421_38994422insAA;NG_008866.1:g.75082_75083insA;NG_008866.1:g.75082_75083insAA;NM_000540.2:c.7927-439_7927-438insA;NM_000540.2:c.7927-439_7927-438insAA;NM_001042723.1:c.7927-439_7927-438insA;NM_001042723.1:c.7927-439_7927-438insAA 101072055 35908725 INDEL_GP36_2008a_2292672_0 2008.05.17 2008.05.17 2006.03.15 2012.05.16 137 BCMHGSC_JDW 6261 NC_000019.9:g.38994431T>A;NG_008866.1:g.75092T>A;NM_000540.2:c.7927-429T>A;NM_001042723.1:c.7927-429T>A 90969924 62119050 JWB-2965864 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.38994431T>A;NG_008866.1:g.75092T>A;NM_000540.2:c.7927-429T>A;NM_001042723.1:c.7927-429T>A 137670372 62119050 ENSSNP11444329 2009.05.16 2009.05.16 2008.03.24 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38994680G>T;NG_008866.1:g.75341G>T;NM_000540.2:c.7927-180G>T;NM_001042723.1:c.7927-180G>T 208411188 79781846 BCM_CMT_1011-3094632 6.78e-02 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994680G>T;NG_008866.1:g.75341G>T;NM_000540.2:c.7927-180G>T;NM_001042723.1:c.7927-180G>T 210946305 79781846 CEU.trio.3.2010_162541_chr19_43686520 6.78e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994680G>T;NG_008866.1:g.75341G>T;NM_000540.2:c.7927-180G>T;NM_001042723.1:c.7927-180G>T 237674218 79781846 pilot_1_CEU_7278847_chr19_43686520 6.78e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994680G>T;NG_008866.1:g.75341G>T;NM_000540.2:c.7927-180G>T;NM_001042723.1:c.7927-180G>T 243880997 79781846 pilot_1_CHB+JPT_5766074_chr19_43686520 6.78e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38994680G>T;NG_008866.1:g.75341G>T;NM_000540.2:c.7927-180G>T;NM_001042723.1:c.7927-180G>T 283206002 79781846 GMI_AK_SNP_7526423 6.78e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ABI 6261 NC_000019.9:g.38994748delC;NC_000019.9:g.38994748delCinsCCT;NG_008866.1:g.75409delC;NG_008866.1:g.75409delCinsCCT;NM_000540.2:c.7927-112delC;NM_000540.2:c.7927-112delCinsCCT;NM_001042723.1:c.7927-112delC;NM_001042723.1:c.7927-112delCinsCCT 40974383 34529638 hCV32823874 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 95728338 71165553 1104685411604 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38994748delC;NC_000019.9:g.38994748delCinsCCT;NG_008866.1:g.75409delC;NG_008866.1:g.75409delCinsCCT;NM_000540.2:c.7927-112delC;NM_000540.2:c.7927-112delCinsCCT;NM_001042723.1:c.7927-112delC;NM_001042723.1:c.7927-112delCinsCCT 100349162 34529638 INDEL_GP36_2008a_1289491_0 2008.05.16 2008.05.16 2006.03.14 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 103616559 71165553 JWB-4066188 2008.06.06 2009.05.11 2009.02.13 2012.11.28 137 BL 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 256205635 71165553 SNP3813_19_43686587 2010.08.20 2010.08.20 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38994748delC;NC_000019.9:g.38994748delCinsCCT;NG_008866.1:g.75409delC;NG_008866.1:g.75409delCinsCCT;NM_000540.2:c.7927-112delC;NM_000540.2:c.7927-112delCinsCCT;NM_001042723.1:c.7927-112delC;NM_001042723.1:c.7927-112delCinsCCT 288525676 34529638 GMI_NA10851_INDEL_296299 2010.12.22 2010.12.22 2006.03.14 2011.09.09 137 GMI 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 289387902 71165553 GMI_AK_INDEL_1065359 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 327903786 71165553 JPTCHB_chr19_43686587_indel 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 328032206 71165553 CEU_chr19_43686587_indel 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 328276238 71165553 YRI_chr19_43686587_indel 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994748_38994750delCCT;NG_008866.1:g.75409_75411delCCT;NM_000540.2:c.7927-112_7927-110delCCT;NM_001042723.1:c.7927-112_7927-110delCCT 499576333 71165553 20110316_indels_chr19_38994747_38994749 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38994750_38994752delTCC;NG_008866.1:g.75411_75413delTCC;NM_000540.2:c.7927-110_7927-108delTCC;NM_001042723.1:c.7927-110_7927-108delTCC 193510340 112274460 BUSHMAN-chr19-43686589-43686592 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38994837G>A;NG_008866.1:g.75498G>A;NM_000540.2:c.7927-23G>A;NM_001042723.1:c.7927-23G>A 465586850 188841869 20101123_snps_11754080_chr19_38994837 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38994866A>G;NG_008866.1:g.75527A>G;NM_000540.2:c.7933A>G;NM_001042723.1:c.7933A>G;NP_000531.2:p.Thr2645Ala;NP_001036188.1:p.Thr2645Ala 489164532 201754005 20110521_exome_255656_chr19_38994866 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38994882G>A;NG_008866.1:g.75543G>A;NM_000540.2:c.7949G>A;NM_001042723.1:c.7949G>A;NP_000531.2:p.Arg2650His;NP_001036188.1:p.Arg2650His 342496562 145733990 ESP2500-chr19-38994882 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.38994891A>G;NG_008866.1:g.75552A>G;NM_000540.2:c.7958A>G;NM_001042723.1:c.7958A>G;NP_000531.2:p.Lys2653Arg;NP_001036188.1:p.Lys2653Arg 491766216 199864636 SNV-chr19-43686731 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38994909C>T;NG_008866.1:g.75570C>T;NM_000540.2:c.7976C>T;NM_001042723.1:c.7976C>T;NP_000531.2:p.Thr2659Met;NP_001036188.1:p.Thr2659Met 342496563 138325444 ESP2500-chr19-38994909 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38994909C>T;NG_008866.1:g.75570C>T;NM_000540.2:c.7976C>T;NM_001042723.1:c.7976C>T;NP_000531.2:p.Thr2659Met;NP_001036188.1:p.Thr2659Met 491546476 138325444 nonsyn_262702_chr_19_38994909 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 WICVAR 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 3176133 2229144 WIAF-14811 3.62e-01 germline untested 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 4113614 2229144 AC011469.6_90506 3.62e-01 germline untested 2001.10.15 2003.10.10 2001.08.15 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 5016477 2229144 IMS-JST191613 3.62e-01 germline untested 2002.08.12 2003.10.10 2001.08.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 21552907 2229144 WGSA-200403-chr19.chr19.NT_011109.15_11263128 3.62e-01 unknown untested 2004.03.20 2004.03.20 2001.08.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 44182490 2229144 hCV7821660 3.62e-01 germline untested 2005.07.18 2007.08.14 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 65741328 2229144 Human1-rs2229144 3.62e-01 germline untested 2006.10.10 2006.10.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 74910042 2229144 ILMN_Human_1M_rs2229144 3.62e-01 unknown untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 90969927 2229144 JWB-1168196 3.62e-01 germline untested 2008.03.01 2008.03.01 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 96305688 2229144 1103691141840 3.62e-01 germline untested 2008.03.26 2008.03.26 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 103437749 2229144 BGI_rs2229144 3.62e-01 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 111365721 2229144 CEU.trio.12.15.2008_3616651_chr19_43686750 3.62e-01 unknown untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 115120545 2229144 NA19240_2008_12_16_3257608_chr19_43686750 3.62e-01 germline untested 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 117702604 2229144 NA18507_000043893_NCBI36.1_chr19_43686750 3.62e-01 unknown untested 2009.01.20 2009.01.20 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 119421971 2229144 KHS1584218 3.62e-01 germline untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 132762445 2229144 ENSSNP1527924 3.62e-01 unknown untested 2009.05.12 2010.03.07 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 159739634 2229144 RYR1-43686750 3.62e-01 unknown untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 168183243 2229144 NA07022_36_chr19_43686750 3.62e-01 unknown untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 169707670 2229144 NA19240_36_chr19_43686750 3.62e-01 germline untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 173192963 2229144 Human1M-Duov3_B_rs2229144-128_T_F_1513932080 3.62e-01 unknown untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 203750967 2229144 BUSHMAN-chr19-43686749 3.62e-01 unknown untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 208497208 2229144 BCM_CMT_1011-3123319 3.62e-01 germline untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 228135791 2229144 pilot_1_YRI_9945474_chr19_43686750 3.62e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 237674219 2229144 pilot_1_CEU_7278848_chr19_43686750 3.62e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 243880998 2229144 pilot_1_CHB+JPT_5766075_chr19_43686750 3.62e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 255668605 2229144 SNP49667_19_43686750 3.62e-01 unknown untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 283206003 2229144 GMI_AK_SNP_7526424 3.62e-01 unknown untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 292248506 2229144 SNP_1754864_chr19_43686750 3.62e-01 unknown untested 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 342496564 2229144 ESP2500-chr19-38994910 3.62e-01 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.7977G>A NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 475871602 2229144 RYR1_00057 3.62e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 491158046 2229144 20110521_exome_665844_chr19_38994910 3.62e-01 germline untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38994910G>A;NG_008866.1:g.75571G>A;NM_000540.2:c.7977G>A;NM_001042723.1:c.7977G>A;NP_000531.2:p.Thr2659=;NP_001036188.1:p.Thr2659= 491766217 2229144 SNV-chr19-43686750 3.62e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38994925C>T;NG_008866.1:g.75586C>T;NM_000540.2:c.7992C>T;NM_001042723.1:c.7992C>T;NP_000531.2:p.Phe2664=;NP_001036188.1:p.Phe2664= 342496565 150620191 ESP2500-chr19-38994925 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38994925C>T;NG_008866.1:g.75586C>T;NM_000540.2:c.7992C>T;NM_001042723.1:c.7992C>T;NP_000531.2:p.Phe2664=;NP_001036188.1:p.Phe2664= 491766218 150620191 SNV-chr19-43686765 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8026C>T NC_000019.9:g.38994959C>T;NG_008866.1:g.75620C>T;NM_000540.2:c.8026C>T;NM_001042723.1:c.8026C>T;NP_000531.2:p.Arg2676Trp;NP_001036188.1:p.Arg2676Trp 475871603 193922826 RYR1_00116 germline other 2011.11.25 2011.11.25 2011.11.25 2013.01.04 137 NCBI-CURATED-RECORDS 6261 NP_001036188.1:p.Arg2676Trp NC_000019.9:g.38994959C>T;NG_008866.1:g.75620C>T;NM_000540.2:c.8026C>T;NM_001042723.1:c.8026C>T;NP_000531.2:p.Arg2676Trp;NP_001036188.1:p.Arg2676Trp 537713552 193922826 28024_1 germline other 2012.07.19 2013.01.04 2011.11.25 2013.01.04 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995040G>A;NG_008866.1:g.75701G>A;NM_000540.2:c.8067+40G>A;NM_001042723.1:c.8067+40G>A 491766219 200124525 SNV-chr19-43686880 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995151C>T;NG_008866.1:g.75812C>T;NM_000540.2:c.8067+151C>T;NM_001042723.1:c.8067+151C>T 465586851 192640005 20101123_snps_11754081_chr19_38995151 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 4113615 2915949 AC011469.6_90748 3.65e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 6247131 2915949 NT_011233.10_1150148 3.65e-01 2003.01.13 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 6628668 2915949 NT_011109.13_1150167 3.65e-01 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 21554874 2915949 WGSA-200403-chr19.chr19.NT_011109.15_11263370 3.65e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 44196914 2915949 hCV7821659 3.65e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 85438357 2915949 Cor19129_SNV_20070510.chr19_43686992 3.65e-01 2007.12.09 2007.12.09 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 90969929 2915949 JWB-1168197 3.65e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 96305689 2915949 1103691141838 3.65e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 103437750 2915949 BGI_rs2915949 3.65e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 115120553 2915949 NA19240_2008_12_16_3257609_chr19_43686992 3.65e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 117702606 2915949 NA18507_000043894_NCBI36.1_chr19_43686992 3.65e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 132762450 2915949 ENSSNP1527925 3.65e-01 2009.05.12 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 137670375 2915949 ENSSNP11444330 3.65e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 168183256 2915949 NA07022_36_chr19_43686992 3.65e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 169707690 2915949 NA19240_36_chr19_43686992 3.65e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 203750968 2915949 BUSHMAN-chr19-43686991 3.65e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 208416174 2915949 BCM_CMT_1011-3096293 3.65e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 228135792 2915949 pilot_1_YRI_9945475_chr19_43686992 3.65e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 237674220 2915949 pilot_1_CEU_7278849_chr19_43686992 3.65e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 243880999 2915949 pilot_1_CHB+JPT_5766076_chr19_43686992 3.65e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 255668611 2915949 SNP49668_19_43686992 3.65e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995152G>A;NG_008866.1:g.75813G>A;NM_000540.2:c.8067+152G>A;NM_001042723.1:c.8067+152G>A 283206004 2915949 GMI_AK_SNP_7526425 3.65e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 4113616 2915950 AC011469.6_90829 3.93e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 6628669 2915950 NT_011109.13_1150248 3.93e-01 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 21553505 2915950 WGSA-200403-chr19.chr19.NT_011109.15_11263451 3.93e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 44184745 2915950 hCV15848808 3.93e-01 2005.07.18 2008.03.31 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 76707534 2915950 AFFY_6_1M_SNP_A-8568915 3.93e-01 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 85811396 2915950 Cor19129_SNV_20070510.chr19_43687073 3.93e-01 2007.12.10 2007.12.10 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 90969931 2915950 JWB-1168198 3.93e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 96305690 2915950 1103691141839 3.93e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 103437751 2915950 BGI_rs2915950 3.93e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 104883622 2915950 KHS1275940 3.93e-01 2008.07.10 2008.07.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 111365729 2915950 CEU.trio.12.15.2008_3616652_chr19_43687073 3.93e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 115120564 2915950 NA19240_2008_12_16_3257610_chr19_43687073 3.93e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 117702608 2915950 NA18507_000043895_NCBI36.1_chr19_43687073 3.93e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 168183267 2915950 NA07022_36_chr19_43687073 3.93e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 169707707 2915950 NA19240_36_chr19_43687073 3.93e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 203750969 2915950 BUSHMAN-chr19-43687072 3.93e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 208418067 2915950 BCM_CMT_1011-3096928 3.93e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 228135793 2915950 pilot_1_YRI_9945476_chr19_43687073 3.93e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 237674221 2915950 pilot_1_CEU_7278850_chr19_43687073 3.93e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 243881000 2915950 pilot_1_CHB+JPT_5766077_chr19_43687073 3.93e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 255668615 2915950 SNP49669_19_43687073 3.93e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 283206005 2915950 GMI_AK_SNP_7526426 3.93e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38995233A>G;NG_008866.1:g.75894A>G;NM_000540.2:c.8068-155A>G;NM_001042723.1:c.8068-155A>G 292248507 2915950 SNP_1754865_chr19_43687073 3.93e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995242G>A;NG_008866.1:g.75903G>A;NM_000540.2:c.8068-146G>A;NM_001042723.1:c.8068-146G>A 243881001 79621739 pilot_1_CHB+JPT_5766078_chr19_43687082 8.20e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38995353C>T;NG_008866.1:g.76014C>T;NM_000540.2:c.8068-35C>T;NM_001042723.1:c.8068-35C>T 489164534 200793331 20110521_exome_255657_chr19_38995353 5.00e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995353C>T;NG_008866.1:g.76014C>T;NM_000540.2:c.8068-35C>T;NM_001042723.1:c.8068-35C>T 491766220 200793331 SNV-chr19-43687193 5.00e-03 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995355_38995357delACC;NG_008866.1:g.76016_76018delACC;NM_000540.2:c.8068-33_8068-31delACC;NM_001042723.1:c.8068-33_8068-31delACC 499576337 200084205 20110316_indels_chr19_38995354_38995356 3.42e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 14948234 10532729 INDEL_GP34_WGS_24954 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 50148031 10532729 INDEL_GP35_WGS_365892 2006.01.24 2006.01.24 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 50255615 10532729 INDEL_GP35_WGS_504677 2006.01.24 2006.01.24 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 79932837 10532729 Cor18507_DIV_20070510.chr19_43687198-43687202_1 2007.11.24 2007.11.24 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 94516103 10532729 INDEL_GP36_2008a_114338_1 2008.03.06 2008.05.18 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 99727845 10532729 INDEL_GP36_2007a_114338_0 2008.05.06 2008.05.06 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38995356delC;NC_000019.9:g.38995356delCinsCCT;NG_008866.1:g.76017delC;NG_008866.1:g.76017delCinsCCT;NM_000540.2:c.8068-32delC;NM_000540.2:c.8068-32delCinsCCT;NM_001042723.1:c.8068-32delC;NM_001042723.1:c.8068-32delCinsCCT 100201215 66952190 INDEL_GP36_2008a_1921176_0 2008.05.16 2008.05.16 2009.02.05 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38995356delC;NC_000019.9:g.38995356delCinsCCT;NG_008866.1:g.76017delC;NG_008866.1:g.76017delCinsCCT;NM_000540.2:c.8068-32delC;NM_000540.2:c.8068-32delCinsCCT;NM_001042723.1:c.8068-32delC;NM_001042723.1:c.8068-32delCinsCCT 100201217 66952190 INDEL_GP36_2008a_1921176_1 2008.05.16 2008.05.16 2009.02.05 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 101991231 10532729 INDEL_GP36_2008a_114338_2 2008.05.18 2008.05.18 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 256205638 10532729 SNP3814_19_43687195 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995356delC;NC_000019.9:g.38995356delCinsCCT;NG_008866.1:g.76017delC;NG_008866.1:g.76017delCinsCCT;NM_000540.2:c.8068-32delC;NM_000540.2:c.8068-32delCinsCCT;NM_001042723.1:c.8068-32delC;NM_001042723.1:c.8068-32delCinsCCT 288525678 66952190 GMI_NA10851_INDEL_296300 2010.12.22 2010.12.22 2009.02.05 2011.09.09 137 GMI 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 289387903 10532729 GMI_AK_INDEL_1065360 2010.12.30 2011.12.30 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 327903787 10532729 JPTCHB_chr19_43687195_indel 2011.03.13 2011.04.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 328032207 10532729 CEU_chr19_43687195_indel 2011.03.13 2011.04.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 328276239 10532729 YRI_chr19_43687195_indel 2011.03.13 2011.04.04 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995356_38995358delCCT;NG_008866.1:g.76017_76019delCCT;NM_000540.2:c.8068-32_8068-30delCCT;NM_001042723.1:c.8068-32_8068-30delCCT 499576341 10532729 20110316_indels_chr19_38995355_38995357 2012.03.20 2012.03.20 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995358_38995360delTCC;NC_000019.9:g.38995358_38995360delTCCinsCCT;NG_008866.1:g.76019_76021delTCC;NG_008866.1:g.76019_76021delTCCinsCCT;NM_000540.2:c.8068-30_8068-28delTCC;NM_000540.2:c.8068-30_8068-28delTCCinsCCT;NM_001042723.1:c.8068-30_8068-28delTCC;NM_001042723.1:c.8068-30_8068-28delTCCinsCCT 104719102 72544824 BGI_rs10532729 2008.06.09 2008.06.09 2009.02.14 2012.05.16 137 BGI 6261 NC_000019.9:g.38995358_38995360delTCC;NC_000019.9:g.38995358_38995360delTCCinsCCT;NG_008866.1:g.76019_76021delTCC;NG_008866.1:g.76019_76021delTCCinsCCT;NM_000540.2:c.8068-30_8068-28delTCC;NM_000540.2:c.8068-30_8068-28delTCCinsCCT;NM_001042723.1:c.8068-30_8068-28delTCC;NM_001042723.1:c.8068-30_8068-28delTCCinsCCT 105487418 72544824 BGI_YHIndelrs10532729 2008.09.10 2009.06.16 2009.02.14 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38995358_38995360delTCC;NC_000019.9:g.38995358_38995360delTCCinsCCT;NG_008866.1:g.76019_76021delTCC;NG_008866.1:g.76019_76021delTCCinsCCT;NM_000540.2:c.8068-30_8068-28delTCC;NM_000540.2:c.8068-30_8068-28delTCCinsCCT;NM_001042723.1:c.8068-30_8068-28delTCC;NM_001042723.1:c.8068-30_8068-28delTCCinsCCT 193510342 72544824 BUSHMAN-chr19-43687197-43687200 2010.02.16 2010.02.16 2009.02.14 2012.05.16 137 1000GENOMES 6261 NC_000019.9:g.38995360_38995362delCTA;NG_008866.1:g.76021_76023delCTA;NM_000540.2:c.8068-28_8068-26delCTA;NM_001042723.1:c.8068-28_8068-26delCTA 499576345 201927444 20110316_indels_chr19_38995359_38995361 3.54e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 80915757 57376136 Cor18507_SNV_20070510.chr19_43687214 9.60e-03 2007.11.27 2007.11.27 2007.12.14 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 117702610 57376136 NA18507_000043896_NCBI36.1_chr19_43687214 9.60e-03 2009.01.20 2009.01.20 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 228135795 57376136 pilot_1_YRI_9945478_chr19_43687214 9.60e-03 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 482354839 57376136 HumanOmni2.5-4v1_D_kgp21546396-0_T_R_1844445063 9.60e-03 2012.02.01 2012.02.01 2007.12.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 483825997 57376136 HumanOmni2.5-4v1_B_SNP19-43687214-0_T_R_1647525503 9.60e-03 2012.02.03 2012.02.03 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995374C>T;NG_008866.1:g.76035C>T;NM_000540.2:c.8068-14C>T;NM_001042723.1:c.8068-14C>T 491158047 57376136 20110521_exome_665845_chr19_38995374 9.60e-03 2012.02.22 2012.02.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995375C>T;NG_008866.1:g.76036C>T;NM_000540.2:c.8068-13C>T;NM_001042723.1:c.8068-13C>T 489164536 200097109 20110521_exome_255658_chr19_38995375 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995393C>T;NG_008866.1:g.76054C>T;NM_000540.2:c.8073C>T;NM_001042723.1:c.8073C>T;NP_000531.2:p.Tyr2691=;NP_001036188.1:p.Tyr2691= 491766221 202160739 SNV-chr19-43687233 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995394G>A;NG_008866.1:g.76055G>A;NM_000540.2:c.8074G>A;NM_001042723.1:c.8074G>A;NP_000531.2:p.Asp2692Asn;NP_001036188.1:p.Asp2692Asn 489164538 201847439 20110521_exome_255659_chr19_38995394 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995405G>C;NG_008866.1:g.76066G>C;NM_000540.2:c.8085G>C;NM_001042723.1:c.8085G>C;NP_000531.2:p.Leu2695=;NP_001036188.1:p.Leu2695= 342496566 139673296 ESP2500-chr19-38995405 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38995413T>C;NG_008866.1:g.76074T>C;NM_000540.2:c.8093T>C;NM_001042723.1:c.8093T>C;NP_000531.2:p.Met2698Thr;NP_001036188.1:p.Met2698Thr 465586852 185021599 20101123_snps_11754082_chr19_38995413 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995413T>C;NG_008866.1:g.76074T>C;NM_000540.2:c.8093T>C;NM_001042723.1:c.8093T>C;NP_000531.2:p.Met2698Thr;NP_001036188.1:p.Met2698Thr 491158048 185021599 20110521_exome_665846_chr19_38995413 6.90e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 4171573 2960340 AC091486.2_64221 3.62e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 5016478 2960340 IMS-JST191614 3.62e-01 unknown untested 2002.08.12 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 6627571 2960340 NT_011109.13_1150453 3.62e-01 unknown untested 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 44197159 2960340 hCV22275282 3.62e-01 unknown untested 2005.07.18 2008.03.31 2001.11.05 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 48401754 2960340 hCV22275282 3.62e-01 unknown untested 2005.11.30 2006.11.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 65742182 2960340 Human1-rs2960340 3.62e-01 germline untested 2006.10.10 2006.10.10 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 74899521 2960340 ILMN_Human_1M_rs2960340 3.62e-01 unknown untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 79830848 2960340 Cor18507_SNV_20070510.chr19_43687278 3.62e-01 unknown untested 2007.11.23 2007.11.23 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 103437752 2960340 BGI_rs2960340 3.62e-01 unknown untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 111365740 2960340 CEU.trio.12.15.2008_3616653_chr19_43687278 3.62e-01 unknown untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 117702612 2960340 NA18507_000043897_NCBI36.1_chr19_43687278 3.62e-01 unknown untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 119451378 2960340 KHS1613625 3.62e-01 germline untested 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 159739635 2960340 RYR1-43687278 3.62e-01 germline untested 2009.07.10 2009.07.10 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 168183282 2960340 NA07022_36_chr19_43687278 3.62e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 169707722 2960340 NA19240_36_chr19_43687278 3.62e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 173541115 2960340 Human1M-Duov3_B_rs2960340-128_B_F_1513936440 3.62e-01 germline untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 203750970 2960340 BUSHMAN-chr19-43687277 3.62e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 211962619 2960340 YRI.trio.3.2010_1440246_chr19_43687278 3.62e-01 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 228135796 2960340 pilot_1_YRI_9945479_chr19_43687278 3.62e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 237674222 2960340 pilot_1_CEU_7278851_chr19_43687278 3.62e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 243881002 2960340 pilot_1_CHB+JPT_5766079_chr19_43687278 3.62e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 255668622 2960340 SNP49670_19_43687278 3.62e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 283206006 2960340 GMI_AK_SNP_7526427 3.62e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 292248508 2960340 SNP_1754866_chr19_43687278 3.62e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 342496567 2960340 ESP2500-chr19-38995438 3.62e-01 unknown untested 2011.03.27 2011.03.27 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8118T>C NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 475871604 2960340 RYR1_00058 3.62e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 483825998 2960340 HumanOmni2.5-4v1_B_SNP19-43687278-0_B_F_1622862607 3.62e-01 unknown untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 484314376 2960340 HumanOmni2.5-4v1_D_kgp9659595-0_B_F_1816438307 3.62e-01 unknown untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 491158049 2960340 20110521_exome_665847_chr19_38995438 3.62e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995438T>C;NG_008866.1:g.76099T>C;NM_000540.2:c.8118T>C;NM_001042723.1:c.8118T>C;NP_000531.2:p.Ile2706=;NP_001036188.1:p.Ile2706= 491766222 2960340 SNV-chr19-43687278 3.62e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995475T>C;NG_008866.1:g.76136T>C;NM_000540.2:c.8155T>C;NM_001042723.1:c.8155T>C;NP_000531.2:p.Tyr2719His;NP_001036188.1:p.Tyr2719His 491766223 200920798 SNV-chr19-43687315 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8188G>C NC_000019.9:g.38995508G>C;NG_008866.1:g.76169G>C;NM_000540.2:c.8188G>C;NM_001042723.1:c.8188G>C;NP_000531.2:p.Asp2730His;NP_001036188.1:p.Asp2730His 475871605 193922827 RYR1_00124 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 POPS 6261 NC_000019.9:g.38995509A>G;NG_008866.1:g.76170A>G;NM_000540.2:c.8189A>G;NM_001042723.1:c.8189A>G;NP_000531.2:p.Asp2730Gly;NP_001036188.1:p.Asp2730Gly 182258910 112196644 MHY10 germline untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8189A>G NC_000019.9:g.38995509A>G;NG_008866.1:g.76170A>G;NM_000540.2:c.8189A>G;NM_001042723.1:c.8189A>G;NP_000531.2:p.Asp2730Gly;NP_001036188.1:p.Asp2730Gly 475871606 112196644 RYR1_00144 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 4113617 2915951 AC011469.6_91106 3.65e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 5016479 2915951 IMS-JST191615 3.65e-01 germline untested 2002.08.12 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 6628671 2915951 NT_011109.13_1150525 3.65e-01 unknown untested 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 44157229 2915951 hCV15848807 3.65e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 48430217 2915951 hCV15848807 3.65e-01 unknown untested 2005.11.30 2006.11.03 2001.11.05 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 52076602 2915951 NT_011109.15_11263728 3.65e-01 germline untested 2006.03.29 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 65738478 2915951 Human1-rs2915951 3.65e-01 unknown untested 2006.10.10 2006.10.10 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 74974556 2915951 ILMN_Human_1M_rs2915951 3.65e-01 germline untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 79708607 2915951 Cor18507_SNV_20070510.chr19_43687350 3.65e-01 germline untested 2007.11.23 2007.11.23 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 103437753 2915951 BGI_rs2915951 3.65e-01 unknown untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 111365748 2915951 CEU.trio.12.15.2008_3616654_chr19_43687350 3.65e-01 unknown untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 115120572 2915951 NA19240_2008_12_16_3257611_chr19_43687350 3.65e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 117702615 2915951 NA18507_000043898_NCBI36.1_chr19_43687350 3.65e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 119450246 2915951 KHS1612493 3.65e-01 germline untested 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 159739636 2915951 RYR1-43687350 3.65e-01 unknown untested 2009.07.10 2009.07.10 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 168183295 2915951 NA07022_36_chr19_43687350 3.65e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 169707740 2915951 NA19240_36_chr19_43687350 3.65e-01 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 173532514 2915951 Human1M-Duov3_B_rs2915951-128_B_F_1513936333 3.65e-01 unknown untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 203750971 2915951 BUSHMAN-chr19-43687349 3.65e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 208466946 2915951 BCM_CMT_1011-3113188 3.65e-01 unknown untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 228135797 2915951 pilot_1_YRI_9945480_chr19_43687350 3.65e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 237674223 2915951 pilot_1_CEU_7278852_chr19_43687350 3.65e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 243881003 2915951 pilot_1_CHB+JPT_5766080_chr19_43687350 3.65e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 255668627 2915951 SNP49671_19_43687350 3.65e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 283206007 2915951 GMI_AK_SNP_7526428 3.65e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 292248509 2915951 SNP_1754867_chr19_43687350 3.65e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 342496568 2915951 ESP2500-chr19-38995510 3.65e-01 germline untested 2011.03.27 2011.03.27 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8190T>C NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 475871607 2915951 RYR1_00059 3.65e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 479874266 2915951 HumanOmni2.5-4v1_D_kgp11948029-0_B_F_1816011034 3.65e-01 unknown untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 483826000 2915951 HumanOmni2.5-4v1_B_SNP19-43687350-0_B_F_1622851787 3.65e-01 germline untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 491158050 2915951 20110521_exome_665848_chr19_38995510 3.65e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995510T>C;NG_008866.1:g.76171T>C;NM_000540.2:c.8190T>C;NM_001042723.1:c.8190T>C;NP_000531.2:p.Asp2730=;NP_001036188.1:p.Asp2730= 491766224 2915951 SNV-chr19-43687350 3.65e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995511G>A;NG_008866.1:g.76172G>A;NM_000540.2:c.8191G>A;NM_001042723.1:c.8191G>A;NP_000531.2:p.Ala2731Thr;NP_001036188.1:p.Ala2731Thr 342496569 140130443 ESP2500-chr19-38995511 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.8198G>A NC_000019.9:g.38995518G>A;NG_008866.1:g.76179G>A;NM_000540.2:c.8198G>A;NM_001042723.1:c.8198G>A;NP_000531.2:p.Gly2733Asp;NP_001036188.1:p.Gly2733Asp 475871608 193922828 RYR1_00103 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38995630G>C;NG_008866.1:g.76291G>C;NM_000540.2:c.8232-13G>C;NM_001042723.1:c.8232-13G>C 465586853 189040589 20101123_snps_11754083_chr19_38995630 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995630G>C;NG_008866.1:g.76291G>C;NM_000540.2:c.8232-13G>C;NM_001042723.1:c.8232-13G>C 491158051 189040589 20110521_exome_665849_chr19_38995630 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995700C>T;NG_008866.1:g.76361C>T;NM_000540.2:c.8289C>T;NM_001042723.1:c.8289C>T;NP_000531.2:p.His2763=;NP_001036188.1:p.His2763= 342496570 145567931 ESP2500-chr19-38995700 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.8290G>A NC_000019.9:g.38995701G>A;NG_008866.1:g.76362G>A;NM_000540.2:c.8290G>A;NM_001042723.1:c.8290G>A;NP_000531.2:p.Glu2764Lys;NP_001036188.1:p.Glu2764Lys 475871609 193922829 RYR1_00270 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 YUSUKE 6261 NC_000019.9:g.38995819C>G;NG_008866.1:g.76480C>G;NM_000540.2:c.8310+98C>G;NM_001042723.1:c.8310+98C>G 5016480 3829976 IMS-JST191616 2.56e-02 unknown untested 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.38995819C>G;NG_008866.1:g.76480C>G;NM_000540.2:c.8310+98C>G;NM_001042723.1:c.8310+98C>G 6628672 3829976 NT_011109.13_1150834 2.56e-02 unknown untested 2003.02.13 2003.10.10 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995819C>G;NG_008866.1:g.76480C>G;NM_000540.2:c.8310+98C>G;NM_001042723.1:c.8310+98C>G 340454631 3829976 20100804_snps_12098172_chr19_38995819 2.56e-02 germline untested 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8310+98C>G NC_000019.9:g.38995819C>G;NG_008866.1:g.76480C>G;NM_000540.2:c.8310+98C>G;NM_001042723.1:c.8310+98C>G 475871610 3829976 RYR1_00359 2.56e-02 germline untested 2011.11.25 2011.11.25 2002.08.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995965C>T;NG_008866.1:g.76626C>T;NM_000540.2:c.8327C>T;NM_001042723.1:c.8327C>T;NP_000531.2:p.Ser2776Phe;NP_001036188.1:p.Ser2776Phe 342496571 147707463 ESP2500-chr19-38995965 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38995965C>T;NG_008866.1:g.76626C>T;NM_000540.2:c.8327C>T;NM_001042723.1:c.8327C>T;NP_000531.2:p.Ser2776Phe;NP_001036188.1:p.Ser2776Phe 491546477 147707463 nonsyn_262703_chr_19_38995965 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995965C>T;NG_008866.1:g.76626C>T;NM_000540.2:c.8327C>T;NM_001042723.1:c.8327C>T;NP_000531.2:p.Ser2776Phe;NP_001036188.1:p.Ser2776Phe 491766225 147707463 SNV-chr19-43687805 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 4113618 2915952 AC011469.6_91571 3.51e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 5016481 2915952 IMS-JST191617 3.51e-01 germline untested 2002.08.12 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 44171982 2915952 hCV7821658 3.51e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 48401755 2915952 hCV7821658 3.51e-01 unknown untested 2005.11.30 2006.11.03 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 96305691 2915952 1103691141843 3.51e-01 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 103437754 2915952 BGI_rs2915952 3.51e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 111365756 2915952 CEU.trio.12.15.2008_3616655_chr19_43687815 3.51e-01 unknown untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 115120580 2915952 NA19240_2008_12_16_3257612_chr19_43687815 3.51e-01 unknown untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 117702617 2915952 NA18507_000043899_NCBI36.1_chr19_43687815 3.51e-01 unknown untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 159739637 2915952 RYR1-43687815 3.51e-01 germline untested 2009.07.10 2009.07.10 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 168183303 2915952 NA07022_36_chr19_43687815 3.51e-01 unknown untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 169117171 2915952 Human1M-Duov3_B_GA034486-0_T_F_1533477841 3.51e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 169707754 2915952 NA19240_36_chr19_43687815 3.51e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 203750972 2915952 BUSHMAN-chr19-43687814 3.51e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 208495137 2915952 BCM_CMT_1011-3122588 3.51e-01 germline untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 228135798 2915952 pilot_1_YRI_9945481_chr19_43687815 3.51e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 237674224 2915952 pilot_1_CEU_7278853_chr19_43687815 3.51e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 243881004 2915952 pilot_1_CHB+JPT_5766081_chr19_43687815 3.51e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 255668630 2915952 SNP49672_19_43687815 3.51e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 283206008 2915952 GMI_AK_SNP_7526429 3.51e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 342496572 2915952 ESP2500-chr19-38995975 3.51e-01 germline untested 2011.03.27 2011.03.27 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8337G>A NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 475871611 2915952 RYR1_00060 3.51e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 479184772 2915952 HumanOmni2.5-4v1_D_kgp10087251-0_T_F_1816326945 3.51e-01 unknown untested 2012.01.30 2012.01.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 483826003 2915952 HumanOmni2.5-4v1_B_SNP19-43687815-0_T_F_1622860846 3.51e-01 germline untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 491158052 2915952 20110521_exome_665850_chr19_38995975 3.51e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995975G>A;NG_008866.1:g.76636G>A;NM_000540.2:c.8337G>A;NM_001042723.1:c.8337G>A;NP_000531.2:p.Glu2779=;NP_001036188.1:p.Glu2779= 491766226 2915952 SNV-chr19-43687815 3.51e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 48401756 35180584 hCV25630433 1.01e-02 germline other 2005.11.30 2005.11.30 2006.03.14 2013.01.04 137 1000GENOMES 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 228135799 35180584 pilot_1_YRI_9945482_chr19_43687838 1.01e-02 germline other 2010.04.22 2010.04.22 2006.03.14 2013.01.04 137 NHLBI-ESP 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 342496573 35180584 ESP2500-chr19-38995998 1.01e-02 unknown other 2011.03.27 2011.03.27 2006.03.14 2013.01.04 137 LUMC-LOVD 6261 NM_000540.2:c.8360C>G NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 475871612 35180584 RYR1_00176 1.01e-02 germline other 2011.11.25 2011.11.25 2006.03.14 2013.01.04 137 1000GENOMES 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 491158053 35180584 20110521_exome_665851_chr19_38995998 1.01e-02 germline other 2012.02.22 2012.02.22 2006.03.14 2013.01.04 137 EXOME_CHIP 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 491546478 35180584 nonsyn_262704_chr_19_38995998 1.01e-02 germline other 2012.03.06 2012.03.06 2006.03.14 2013.01.04 137 CLINSEQ_SNP 6261 NC_000019.9:g.38995998C>G;NG_008866.1:g.76659C>G;NM_000540.2:c.8360C>G;NM_001042723.1:c.8360C>G;NP_000531.2:p.Thr2787Ser;NP_001036188.1:p.Thr2787Ser 491766227 35180584 SNV-chr19-43687838 1.01e-02 unknown other 2012.03.07 2012.03.13 2006.03.14 2013.01.04 137 NCBI-CURATED-RECORDS 6261 NM_001042723.1:c.8360C>G ARRAY(0x5d796f20) 646069240 35180584 28024_2 1.01e-02 germline other 2012.11.29 2013.01.04 2006.03.14 2013.01.04 137 1000GENOMES 6261 NC_000019.9:g.38995999C>T;NG_008866.1:g.76660C>T;NM_000540.2:c.8361C>T;NM_001042723.1:c.8361C>T;NP_000531.2:p.Thr2787=;NP_001036188.1:p.Thr2787= 211962621 77216903 YRI.trio.3.2010_1440247_chr19_43687839 3.70e-03 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995999C>T;NG_008866.1:g.76660C>T;NM_000540.2:c.8361C>T;NM_001042723.1:c.8361C>T;NP_000531.2:p.Thr2787=;NP_001036188.1:p.Thr2787= 340454632 77216903 20100804_snps_12098173_chr19_38995999 3.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38995999C>T;NG_008866.1:g.76660C>T;NM_000540.2:c.8361C>T;NM_001042723.1:c.8361C>T;NP_000531.2:p.Thr2787=;NP_001036188.1:p.Thr2787= 342496574 77216903 ESP2500-chr19-38995999 3.70e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38995999C>T;NG_008866.1:g.76660C>T;NM_000540.2:c.8361C>T;NM_001042723.1:c.8361C>T;NP_000531.2:p.Thr2787=;NP_001036188.1:p.Thr2787= 491158054 77216903 20110521_exome_665852_chr19_38995999 3.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38996011G>C;NG_008866.1:g.76672G>C;NM_000540.2:c.8373G>C;NM_001042723.1:c.8373G>C;NP_000531.2:p.Leu2791=;NP_001036188.1:p.Leu2791= 342496575 140069724 ESP2500-chr19-38996011 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38996014G>A;NG_008866.1:g.76675G>A;NM_000540.2:c.8376G>A;NM_001042723.1:c.8376G>A;NP_000531.2:p.Arg2792=;NP_001036188.1:p.Arg2792= 342496576 150388417 ESP2500-chr19-38996014 2.30e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996014G>A;NG_008866.1:g.76675G>A;NM_000540.2:c.8376G>A;NM_001042723.1:c.8376G>A;NP_000531.2:p.Arg2792=;NP_001036188.1:p.Arg2792= 465586854 150388417 20101123_snps_11754084_chr19_38996014 2.30e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996014G>A;NG_008866.1:g.76675G>A;NM_000540.2:c.8376G>A;NM_001042723.1:c.8376G>A;NP_000531.2:p.Arg2792=;NP_001036188.1:p.Arg2792= 491158055 150388417 20110521_exome_665853_chr19_38996014 2.30e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38996014G>A;NG_008866.1:g.76675G>A;NM_000540.2:c.8376G>A;NM_001042723.1:c.8376G>A;NP_000531.2:p.Arg2792=;NP_001036188.1:p.Arg2792= 491766228 150388417 SNV-chr19-43687854 2.30e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38996020C>T;NG_008866.1:g.76681C>T;NM_000540.2:c.8382C>T;NM_001042723.1:c.8382C>T;NP_000531.2:p.Tyr2794=;NP_001036188.1:p.Tyr2794= 342496577 146514343 ESP2500-chr19-38996020 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.38996026C>T;NG_008866.1:g.76687C>T;NM_000540.2:c.8388C>T;NM_001042723.1:c.8388C>T;NP_000531.2:p.Thr2796=;NP_001036188.1:p.Thr2796= 342496578 141068930 ESP2500-chr19-38996026 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 4113619 2915953 AC011469.6_91662 3.46e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 44186736 2915953 hCV7821654 3.46e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 90969933 2915953 JWB-1168199 3.46e-01 germline untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 96305692 2915953 1103691141844 3.46e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 103437755 2915953 BGI_rs2915953 3.46e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 111365764 2915953 CEU.trio.12.15.2008_3616656_chr19_43687906 3.46e-01 germline untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 117702619 2915953 NA18507_000043900_NCBI36.1_chr19_43687906 3.46e-01 unknown untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 168183315 2915953 NA07022_36_chr19_43687906 3.46e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 203750973 2915953 BUSHMAN-chr19-43687905 3.46e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 208522715 2915953 BCM_CMT_1011-3132248 3.46e-01 unknown untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 211962622 2915953 YRI.trio.3.2010_1440248_chr19_43687906 3.46e-01 unknown untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 228135800 2915953 pilot_1_YRI_9945483_chr19_43687906 3.46e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 237674225 2915953 pilot_1_CEU_7278854_chr19_43687906 3.46e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 243881005 2915953 pilot_1_CHB+JPT_5766082_chr19_43687906 3.46e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 255668636 2915953 SNP49673_19_43687906 3.46e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 283206009 2915953 GMI_AK_SNP_7526430 3.46e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8400+28A>G NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 475871613 2915953 RYR1_00360 3.46e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996066A>G;NG_008866.1:g.76727A>G;NM_000540.2:c.8400+28A>G;NM_001042723.1:c.8400+28A>G 491158056 2915953 20110521_exome_665854_chr19_38996066 3.46e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 4171574 2960341 AC091486.2_64882 6.27e-02 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.09.29 137 ABI 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 44194079 2960341 hCV7821653 6.27e-02 germline untested 2005.07.18 2005.07.18 2001.11.05 2012.09.29 137 BCMHGSC_JDW 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 90969936 2960341 JWB-1168200 6.27e-02 unknown untested 2008.03.01 2008.03.01 2001.11.05 2012.09.29 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 96305693 2960341 1103691141845 6.27e-02 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.09.29 137 ENSEMBL 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 137670379 2960341 ENSSNP11444331 6.27e-02 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.09.29 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 169707778 2960341 NA19240_36_chr19_43687939 6.27e-02 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 211962624 2960341 YRI.trio.3.2010_1440249_chr19_43687939 6.27e-02 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 228135801 2960341 pilot_1_YRI_9945484_chr19_43687939 6.27e-02 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 237674226 2960341 pilot_1_CEU_7278855_chr19_43687939 6.27e-02 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.8400+61C>T NC_000019.9:g.38996099C>T;NG_008866.1:g.76760C>T;NM_000540.2:c.8400+61C>T;NM_001042723.1:c.8400+61C>T 475871614 2960341 RYR1_00361 6.27e-02 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38996104A>T;NG_008866.1:g.76765A>T;NM_000540.2:c.8400+66A>T;NM_001042723.1:c.8400+66A>T 465586855 184535779 20101123_snps_11754085_chr19_38996104 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38996253G>A;NG_008866.1:g.76914G>A;NM_000540.2:c.8401-193G>A;NM_001042723.1:c.8401-193G>A 243881006 75146254 pilot_1_CHB+JPT_5766083_chr19_43688093 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.38996253G>A;NG_008866.1:g.76914G>A;NM_000540.2:c.8401-193G>A;NM_001042723.1:c.8401-193G>A 283206010 75146254 GMI_AK_SNP_7526431 2.34e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996316A>G;NG_008866.1:g.76977A>G;NM_000540.2:c.8401-130A>G;NM_001042723.1:c.8401-130A>G 465586856 189367861 20101123_snps_11754086_chr19_38996316 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38996408C>T;NG_008866.1:g.77069C>T;NM_000540.2:c.8401-38C>T;NM_001042723.1:c.8401-38C>T 489164540 200981030 20110521_exome_255660_chr19_38996408 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38996459A>C;NG_008866.1:g.77120A>C;NM_000540.2:c.8414A>C;NM_001042723.1:c.8414A>C;NP_000531.2:p.Tyr2805Ser;NP_001036188.1:p.Tyr2805Ser 491546479 201903618 nonsyn_262705_chr_19_38996459 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 NHLBI-ESP 6261 NC_000019.9:g.38996550A>T;NG_008866.1:g.77211A>T;NM_000540.2:c.8505A>T;NM_001042723.1:c.8505A>T;NP_000531.2:p.Glu2835Asp;NP_001036188.1:p.Glu2835Asp 342496579 144777676 ESP2500-chr19-38996550 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38996550A>T;NG_008866.1:g.77211A>T;NM_000540.2:c.8505A>T;NM_001042723.1:c.8505A>T;NP_000531.2:p.Glu2835Asp;NP_001036188.1:p.Glu2835Asp 491546480 144777676 nonsyn_262706_chr_19_38996550 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996559A>C;NG_008866.1:g.77220A>C;NM_000540.2:c.8514A>C;NM_001042723.1:c.8514A>C;NP_000531.2:p.Lys2838Asn;NP_001036188.1:p.Lys2838Asn 340454633 140171924 20100804_snps_12098174_chr19_38996559 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996559A>C;NG_008866.1:g.77220A>C;NM_000540.2:c.8514A>C;NM_001042723.1:c.8514A>C;NP_000531.2:p.Lys2838Asn;NP_001036188.1:p.Lys2838Asn 491158057 140171924 20110521_exome_665855_chr19_38996559 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996562G>T;NG_008866.1:g.77223G>T;NM_000540.2:c.8517G>T;NM_001042723.1:c.8517G>T;NP_000531.2:p.Thr2839=;NP_001036188.1:p.Thr2839= 465586857 182019390 20101123_snps_11754087_chr19_38996562 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 LUMC-LOVD 6261 NM_000540.2:c.8518C>T NC_000019.9:g.38996563C>T;NG_008866.1:g.77224C>T;NM_000540.2:c.8518C>T;NM_001042723.1:c.8518C>T;NP_000531.2:p.Arg2840Trp;NP_001036188.1:p.Arg2840Trp 475871615 193922830 RYR1_00125 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.38996587G>A;NG_008866.1:g.77248G>A;NM_000540.2:c.8541+1G>A;NM_001042723.1:c.8541+1G>A 169117186 112415287 Human1M-Duov3_B_GA034487-0_T_F_1533481637 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.38996588T>C;NG_008866.1:g.77249T>C;NM_000540.2:c.8541+2T>C;NM_001042723.1:c.8541+2T>C 169117201 113028567 Human1M-Duov3_B_GA034488-0_B_F_1533476998 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 4171575 2960342 AC091486.2_65403 3.52e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 4931874 2960342 IMS-JST097353 3.52e-01 unknown untested 2002.08.01 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 17614126 2960342 CSHL-HuCC-200402.chr19.NT_011109.15_11264838 3.52e-01 unknown untested 2004.02.19 2004.03.04 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 21535106 2960342 WGSA-200403-chr19.chr19.NT_011109.15_11264838 3.52e-01 germline untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 41040489 2960342 hCV7821652 3.52e-01 unknown untested 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 84814331 2960342 Cor19240_SNV_20070510.chr19_43688460 3.52e-01 germline untested 2007.12.08 2007.12.08 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 96305694 2960342 1103691141846 3.52e-01 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 117702621 2960342 NA18507_000043901_NCBI36.1_chr19_43688460 3.52e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 168183327 2960342 NA07022_36_chr19_43688460 3.52e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 169707798 2960342 NA19240_36_chr19_43688460 3.52e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 203750974 2960342 BUSHMAN-chr19-43688459 3.52e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 211962626 2960342 YRI.trio.3.2010_1440250_chr19_43688460 3.52e-01 unknown untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 228135802 2960342 pilot_1_YRI_9945485_chr19_43688460 3.52e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 237674227 2960342 pilot_1_CEU_7278856_chr19_43688460 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 243881007 2960342 pilot_1_CHB+JPT_5766084_chr19_43688460 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 255668641 2960342 SNP49674_19_43688460 3.52e-01 unknown untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 283206011 2960342 GMI_AK_SNP_7526432 3.52e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8541+34C>T NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 475871616 2960342 RYR1_00363 3.52e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 491158058 2960342 20110521_exome_665856_chr19_38996620 3.52e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38996620C>T;NG_008866.1:g.77281C>T;NM_000540.2:c.8541+34C>T;NM_001042723.1:c.8541+34C>T 491766229 2960342 SNV-chr19-43688460 3.52e-01 unknown untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 4171576 2960343 AC091486.2_65406 3.50e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 4931875 2960343 IMS-JST097354 3.50e-01 unknown untested 2002.08.01 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 17622289 2960343 CSHL-HuCC-200402.chr19.NT_011109.15_11264841 3.50e-01 germline untested 2004.02.19 2004.03.04 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 21541228 2960343 WGSA-200403-chr19.chr19.NT_011109.15_11264841 3.50e-01 unknown untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 40985866 2960343 hCV7821648 3.50e-01 unknown untested 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 83160599 2960343 Cor19240_SNV_20070510.chr19_43688463 3.50e-01 germline untested 2007.12.04 2007.12.04 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 96305695 2960343 1103691141847 3.50e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 168183339 2960343 NA07022_36_chr19_43688463 3.50e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 169707820 2960343 NA19240_36_chr19_43688463 3.50e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 203750975 2960343 BUSHMAN-chr19-43688462 3.50e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 228135803 2960343 pilot_1_YRI_9945486_chr19_43688463 3.50e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 237674228 2960343 pilot_1_CEU_7278857_chr19_43688463 3.50e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 243881008 2960343 pilot_1_CHB+JPT_5766085_chr19_43688463 3.50e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 255668647 2960343 SNP49675_19_43688463 3.50e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 283206012 2960343 GMI_AK_SNP_7526433 3.50e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8541+37T>G NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 475871617 2960343 RYR1_00364 3.50e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 491158059 2960343 20110521_exome_665857_chr19_38996623 3.50e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38996623T>G;NG_008866.1:g.77284T>G;NM_000540.2:c.8541+37T>G;NM_001042723.1:c.8541+37T>G 491766230 2960343 SNV-chr19-43688463 3.50e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 4113620 2915954 AC011469.6_92236 3.51e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 4931876 2915954 IMS-JST097355 3.51e-01 germline untested 2002.08.01 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 17614081 2915954 CSHL-HuCC-200402.chr19.NT_011109.15_11264858 3.51e-01 germline untested 2004.02.19 2004.03.04 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 21534434 2915954 WGSA-200403-chr19.chr19.NT_011109.15_11264858 3.51e-01 germline untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 44196622 2915954 hCV7821647 3.51e-01 unknown untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 84047698 2915954 Cor19240_SNV_20070510.chr19_43688480 3.51e-01 unknown untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 96305696 2915954 1103691141848 3.51e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 117702623 2915954 NA18507_000043902_NCBI36.1_chr19_43688480 3.51e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 168183353 2915954 NA07022_36_chr19_43688480 3.51e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 169707846 2915954 NA19240_36_chr19_43688480 3.51e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 203750976 2915954 BUSHMAN-chr19-43688479 3.51e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 211962628 2915954 YRI.trio.3.2010_1440251_chr19_43688480 3.51e-01 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 228135804 2915954 pilot_1_YRI_9945487_chr19_43688480 3.51e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 237674229 2915954 pilot_1_CEU_7278858_chr19_43688480 3.51e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 243881009 2915954 pilot_1_CHB+JPT_5766086_chr19_43688480 3.51e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 255668652 2915954 SNP49676_19_43688480 3.51e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 283206013 2915954 GMI_AK_SNP_7526434 3.51e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8541+54A>G NC_000019.9:g.38996640A>G;NG_008866.1:g.77301A>G;NM_000540.2:c.8541+54A>G;NM_001042723.1:c.8541+54A>G 475871618 2915954 RYR1_00362 3.51e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996647G>C;NG_008866.1:g.77308G>C;NM_000540.2:c.8541+61G>C;NM_001042723.1:c.8541+61G>C 117702625 73933006 NA18507_000043903_NCBI36.1_chr19_43688487 1.51e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996647G>C;NG_008866.1:g.77308G>C;NM_000540.2:c.8541+61G>C;NM_001042723.1:c.8541+61G>C 340454634 73933006 20100804_snps_12098175_chr19_38996647 1.51e-02 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996685C>G;NG_008866.1:g.77346C>G;NM_000540.2:c.8541+99C>G;NM_001042723.1:c.8541+99C>G 465586858 186752970 20101123_snps_11754088_chr19_38996685 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 4113621 2915955 AC011469.6_92417 3.52e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 21556641 2915955 WGSA-200403-chr19.chr19.NT_011109.15_11265039 3.52e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 44169713 2915955 hCV7821646 3.52e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 74989414 2915955 ILMN_Human_1M_rs2915955 3.52e-01 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 85206216 2915955 Cor19240_SNV_20070510.chr19_43688661 3.52e-01 2007.12.08 2007.12.08 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 90969937 2915955 JWB-1168201 3.52e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 96305697 2915955 1103691141849 3.52e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 103437756 2915955 BGI_rs2915955 3.52e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 111365772 2915955 CEU.trio.12.15.2008_3616657_chr19_43688661 3.52e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 115120584 2915955 NA19240_2008_12_16_3257613_chr19_43688661 3.52e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 117702627 2915955 NA18507_000043904_NCBI36.1_chr19_43688661 3.52e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 119450247 2915955 KHS1612494 3.52e-01 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 137670382 2915955 ENSSNP11444332 3.52e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 168183364 2915955 NA07022_36_chr19_43688661 3.52e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 169707860 2915955 NA19240_36_chr19_43688661 3.52e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 173532517 2915955 Human1M-Duov3_B_rs2915955-128_T_F_1513973012 3.52e-01 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 203750977 2915955 BUSHMAN-chr19-43688660 3.52e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 208516690 2915955 BCM_CMT_1011-3130175 3.52e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 228135805 2915955 pilot_1_YRI_9945488_chr19_43688661 3.52e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 237674230 2915955 pilot_1_CEU_7278859_chr19_43688661 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 243881010 2915955 pilot_1_CHB+JPT_5766087_chr19_43688661 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 255668656 2915955 SNP49677_19_43688661 3.52e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 283206014 2915955 GMI_AK_SNP_7526435 3.52e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38996821A>C;NG_008866.1:g.77482A>C;NM_000540.2:c.8542-122A>C;NM_001042723.1:c.8542-122A>C 292248510 2915955 SNP_1754868_chr19_43688661 3.52e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996843G>A;NG_008866.1:g.77504G>A;NM_000540.2:c.8542-100G>A;NM_001042723.1:c.8542-100G>A 465586859 192009715 20101123_snps_11754089_chr19_38996843 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38996871C>T;NG_008866.1:g.77532C>T;NM_000540.2:c.8542-72C>T;NM_001042723.1:c.8542-72C>T 111365774 73030989 CEU.trio.12.15.2008_3616658_chr19_43688711 7.80e-03 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996871C>T;NG_008866.1:g.77532C>T;NM_000540.2:c.8542-72C>T;NM_001042723.1:c.8542-72C>T 237674231 73030989 pilot_1_CEU_7278860_chr19_43688711 7.80e-03 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38996982G>A;NG_008866.1:g.77643G>A;NM_000540.2:c.8581G>A;NM_001042723.1:c.8581G>A;NP_000531.2:p.Asp2861Asn;NP_001036188.1:p.Asp2861Asn 342496580 138647599 ESP2500-chr19-38996982 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 WICVAR 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 3176135 2229146 WIAF-14896 3.55e-01 unknown untested 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 4113622 2229146 AC011469.6_92586 3.55e-01 unknown untested 2001.10.15 2006.10.25 2001.08.15 2012.11.28 137 ABI 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 44186204 2229146 hCV7821642 3.55e-01 germline untested 2005.07.18 2006.11.03 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 67631638 2229146 HumanHap650Yv1.0_rs2229146 3.55e-01 germline untested 2006.11.14 2006.11.14 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 71281562 2229146 HumanHap650Yv3.0_rs2229146 3.55e-01 germline untested 2007.04.23 2007.04.23 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 75408049 2229146 ILMN_Human_1M_rs2229146 3.55e-01 unknown untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 83741636 2229146 Cor19240_SNV_20070510.chr19_43688830 3.55e-01 unknown untested 2007.12.05 2007.12.05 2001.08.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 90969940 2229146 JWB-1168202 3.55e-01 germline untested 2008.03.01 2008.03.01 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 95902769 2229146 1104754399343 3.55e-01 unknown untested 2008.03.24 2008.07.01 2001.08.15 2012.11.28 137 BGI 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 103437757 2229146 BGI_rs2229146 3.55e-01 unknown untested 2008.06.06 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 111365782 2229146 CEU.trio.12.15.2008_3616659_chr19_43688830 3.55e-01 germline untested 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 115120596 2229146 NA19240_2008_12_16_3257614_chr19_43688830 3.55e-01 germline untested 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 117702629 2229146 NA18507_000043905_NCBI36.1_chr19_43688830 3.55e-01 germline untested 2009.01.20 2009.01.20 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 119421973 2229146 KHS1584220 3.55e-01 germline untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 136267504 2229146 ENSSNP1527926 3.55e-01 germline untested 2009.05.15 2009.10.15 2001.08.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 137670385 2229146 ENSSNP6437830 3.55e-01 unknown untested 2009.05.16 2009.05.16 2001.08.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 159739638 2229146 RYR1-43688830 3.55e-01 unknown untested 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 160517353 2229146 HumanOmni1-Quad_v1-0_B_rs2229146-128_B_F_1502347595 3.55e-01 germline untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 168183382 2229146 NA07022_36_chr19_43688830 3.55e-01 unknown untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 169707875 2229146 NA19240_36_chr19_43688830 3.55e-01 unknown untested 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 173192971 2229146 Human1M-Duov3_B_rs2229146-128_B_F_1502347595 3.55e-01 germline untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 203750978 2229146 BUSHMAN-chr19-43688829 3.55e-01 germline untested 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 208483945 2229146 BCM_CMT_1011-3118738 3.55e-01 unknown untested 2010.03.19 2010.03.19 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 228135806 2229146 pilot_1_YRI_9945489_chr19_43688830 3.55e-01 unknown untested 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 237674232 2229146 pilot_1_CEU_7278861_chr19_43688830 3.55e-01 unknown untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 243881011 2229146 pilot_1_CHB+JPT_5766088_chr19_43688830 3.55e-01 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 255668662 2229146 SNP49678_19_43688830 3.55e-01 unknown untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 283206015 2229146 GMI_AK_SNP_7526436 3.55e-01 germline untested 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 292248511 2229146 SNP_1754869_chr19_43688830 3.55e-01 germline untested 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 342496581 2229146 ESP2500-chr19-38996990 3.55e-01 unknown untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8589T>C NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 475871619 2229146 RYR1_00061 3.55e-01 unknown untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 480472032 2229146 HumanOmni2.5-4v1_B_rs2229146-128_B_F_1782887010 3.55e-01 unknown untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 480486367 2229146 HumanOmniExpress-12v1_C_rs2229146-131_B_F_1857157526 3.55e-01 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 481283723 2229146 HumanOmni1-Quad_v1-0_C_rs2229146-131_B_F_1857157526 3.55e-01 unknown untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 485033492 2229146 HumanOmni2.5-4v1_D_rs2229146-131_B_F_1857157526 3.55e-01 unknown untested 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 491158060 2229146 20110521_exome_665858_chr19_38996990 3.55e-01 germline untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38996990T>C;NG_008866.1:g.77651T>C;NM_000540.2:c.8589T>C;NM_001042723.1:c.8589T>C;NP_000531.2:p.Ser2863=;NP_001036188.1:p.Ser2863= 491766231 2229146 SNV-chr19-43688830 3.55e-01 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8600T>A NC_000019.9:g.38997001T>A;NG_008866.1:g.77662T>A;NM_000540.2:c.8600T>A;NM_001042723.1:c.8600T>A;NP_000531.2:p.Leu2867Gln;NP_001036188.1:p.Leu2867Gln 475871620 193922831 RYR1_00271 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.38997024G>A;NG_008866.1:g.77685G>A;NM_000540.2:c.8616+7G>A;NM_001042723.1:c.8616+7G>A 489164542 200023171 20110521_exome_255661_chr19_38997024 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997035T>C;NG_008866.1:g.77696T>C;NM_000540.2:c.8616+18T>C;NM_001042723.1:c.8616+18T>C 491766232 201401795 SNV-chr19-43688875 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997039G>C;NG_008866.1:g.77700G>C;NM_000540.2:c.8616+22G>C;NM_001042723.1:c.8616+22G>C 489164544 201647922 20110521_exome_255662_chr19_38997039 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997039G>C;NG_008866.1:g.77700G>C;NM_000540.2:c.8616+22G>C;NM_001042723.1:c.8616+22G>C 491766233 201647922 SNV-chr19-43688879 1.40e-03 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997060G>C;NG_008866.1:g.77721G>C;NM_000540.2:c.8616+43G>C;NM_001042723.1:c.8616+43G>C 228135807 74481153 pilot_1_YRI_9945490_chr19_43688900 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997060G>C;NG_008866.1:g.77721G>C;NM_000540.2:c.8616+43G>C;NM_001042723.1:c.8616+43G>C 491158061 74481153 20110521_exome_665859_chr19_38997060 3.70e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997072T>C;NG_008866.1:g.77733T>C;NM_000540.2:c.8617-39T>C;NM_001042723.1:c.8617-39T>C 489164546 201298978 20110521_exome_255663_chr19_38997072 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 4171577 2960344 AC091486.2_65859 3.52e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 44193705 2960344 hCV7821641 3.52e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 52076636 2960344 NT_011109.15_11265294 3.52e-01 germline untested 2006.03.29 2006.03.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 85114882 2960344 Cor19240_SNV_20070510.chr19_43688916 3.52e-01 unknown untested 2007.12.08 2007.12.08 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 90969942 2960344 JWB-1168203 3.52e-01 germline untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 95902770 2960344 1104754399344 3.52e-01 germline untested 2008.03.24 2008.07.01 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 103437758 2960344 BGI_rs2960344 3.52e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 111365790 2960344 CEU.trio.12.15.2008_3616660_chr19_43688916 3.52e-01 germline untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 115120599 2960344 NA19240_2008_12_16_3257615_chr19_43688916 3.52e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 117702631 2960344 NA18507_000043906_NCBI36.1_chr19_43688916 3.52e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 136267500 2960344 ENSSNP1527927 3.52e-01 germline untested 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 137670388 2960344 ENSSNP11444334 3.52e-01 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 168183388 2960344 NA07022_36_chr19_43688916 3.52e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 169707893 2960344 NA19240_36_chr19_43688916 3.52e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 203750979 2960344 BUSHMAN-chr19-43688915 3.52e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 208446101 2960344 BCM_CMT_1011-3106176 3.52e-01 germline untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 228135808 2960344 pilot_1_YRI_9945491_chr19_43688916 3.52e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 237674233 2960344 pilot_1_CEU_7278862_chr19_43688916 3.52e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 243881012 2960344 pilot_1_CHB+JPT_5766089_chr19_43688916 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 255668665 2960344 SNP49679_19_43688916 3.52e-01 unknown untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 283206016 2960344 GMI_AK_SNP_7526437 3.52e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 292248512 2960344 SNP_1754870_chr19_43688916 3.52e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8617-35C>T NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 475871621 2960344 RYR1_00365 3.52e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 491158062 2960344 20110521_exome_665860_chr19_38997076 3.52e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997076C>T;NG_008866.1:g.77737C>T;NM_000540.2:c.8617-35C>T;NM_001042723.1:c.8617-35C>T 491766234 2960344 SNV-chr19-43688916 3.52e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997106C>T;NG_008866.1:g.77767C>T;NM_000540.2:c.8617-5C>T;NM_001042723.1:c.8617-5C>T 491766235 201663014 SNV-chr19-43688946 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 POPS 6261 NC_000019.9:g.38997132G>A;NG_008866.1:g.77793G>A;NM_000540.2:c.8638G>A;NM_001042723.1:c.8638G>A;NP_000531.2:p.Glu2880Lys;NP_001036188.1:p.Glu2880Lys 182258911 112772310 MHY11 unknown untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8638G>A NC_000019.9:g.38997132G>A;NG_008866.1:g.77793G>A;NM_000540.2:c.8638G>A;NM_001042723.1:c.8638G>A;NP_000531.2:p.Glu2880Lys;NP_001036188.1:p.Glu2880Lys 475871622 112772310 RYR1_00145 unknown untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997165A>C;NG_008866.1:g.77826A>C;NM_000540.2:c.8671A>C;NM_001042723.1:c.8671A>C;NP_000531.2:p.Lys2891Gln;NP_001036188.1:p.Lys2891Gln 340454635 146793133 20100804_snps_12098176_chr19_38997165 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38997165A>C;NG_008866.1:g.77826A>C;NM_000540.2:c.8671A>C;NM_001042723.1:c.8671A>C;NP_000531.2:p.Lys2891Gln;NP_001036188.1:p.Lys2891Gln 342496582 146793133 ESP2500-chr19-38997165 1.80e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997165A>C;NG_008866.1:g.77826A>C;NM_000540.2:c.8671A>C;NM_001042723.1:c.8671A>C;NP_000531.2:p.Lys2891Gln;NP_001036188.1:p.Lys2891Gln 491158063 146793133 20110521_exome_665861_chr19_38997165 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38997165A>C;NG_008866.1:g.77826A>C;NM_000540.2:c.8671A>C;NM_001042723.1:c.8671A>C;NP_000531.2:p.Lys2891Gln;NP_001036188.1:p.Lys2891Gln 491546481 146793133 nonsyn_262707_chr_19_38997165 1.80e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38997188T>C;NG_008866.1:g.77849T>C;NM_000540.2:c.8692+2T>C;NM_001042723.1:c.8692+2T>C 169117217 112050346 Human1M-Duov3_B_GA034490-0_B_F_1533481850 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ABI 6261 NC_000019.9:g.38997209_38997210insA;NG_008866.1:g.77870_77871insA;NM_000540.2:c.8692+23_8692+24insA;NM_001042723.1:c.8692+23_8692+24insA 41010218 34240389 hCV32823876 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 4171578 2960345 AC091486.2_65997 3.52e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 44177896 2960345 hCV11507938 3.52e-01 germline untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 52076637 2960345 NT_011109.15_11265432 3.52e-01 unknown untested 2006.03.29 2006.03.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 80765530 2960345 Cor18507_SNV_20070510.chr19_43689054 3.52e-01 unknown untested 2007.11.26 2007.11.26 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 90969944 2960345 JWB-1168204 3.52e-01 germline untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 103437759 2960345 BGI_rs2960345 3.52e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 111365798 2960345 CEU.trio.12.15.2008_3616661_chr19_43689054 3.52e-01 germline untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 115120612 2960345 NA19240_2008_12_16_3257616_chr19_43689054 3.52e-01 unknown untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 117702633 2960345 NA18507_000043907_NCBI36.1_chr19_43689054 3.52e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 136267497 2960345 ENSSNP1527928 3.52e-01 unknown untested 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 137670390 2960345 ENSSNP11444335 3.52e-01 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 168183399 2960345 NA07022_36_chr19_43689054 3.52e-01 unknown untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 169707908 2960345 NA19240_36_chr19_43689054 3.52e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 203750980 2960345 BUSHMAN-chr19-43689053 3.52e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 228135809 2960345 pilot_1_YRI_9945492_chr19_43689054 3.52e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 237674234 2960345 pilot_1_CEU_7278863_chr19_43689054 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 243881013 2960345 pilot_1_CHB+JPT_5766090_chr19_43689054 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 255668670 2960345 SNP49680_19_43689054 3.52e-01 unknown untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 283206017 2960345 GMI_AK_SNP_7526438 3.52e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 292248513 2960345 SNP_1754871_chr19_43689054 3.52e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8692+28T>G NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 475871623 2960345 RYR1_00367 3.52e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997214T>G;NG_008866.1:g.77875T>G;NM_000540.2:c.8692+28T>G;NM_001042723.1:c.8692+28T>G 491158064 2960345 20110521_exome_665862_chr19_38997214 3.52e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997231C>T;NG_008866.1:g.77892C>T;NM_000540.2:c.8692+45C>T;NM_001042723.1:c.8692+45C>T 203750981 112711922 BUSHMAN-chr19-43689070 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 4113623 2915957 AC011469.6_92919 3.52e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 21516203 2915957 WGSA-200403-chr19.chr19.NT_011109.15_11265541 3.52e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 44158209 2915957 hCV11507937 3.52e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 80761555 2915957 Cor18507_SNV_20070510.chr19_43689163 3.52e-01 2007.11.26 2007.11.26 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 90969946 2915957 JWB-1168205 3.52e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 95902771 2915957 1104754399346 3.52e-01 2008.03.24 2008.07.01 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 103437760 2915957 BGI_rs2915957 3.52e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 111365806 2915957 CEU.trio.12.15.2008_3616662_chr19_43689163 3.52e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 115120620 2915957 NA19240_2008_12_16_3257617_chr19_43689163 3.52e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 117702635 2915957 NA18507_000043908_NCBI36.1_chr19_43689163 3.52e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 136267494 2915957 ENSSNP1527929 3.52e-01 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 137670394 2915957 ENSSNP11444336 3.52e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 168183413 2915957 NA07022_36_chr19_43689163 3.52e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 169707923 2915957 NA19240_36_chr19_43689163 3.52e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 203750982 2915957 BUSHMAN-chr19-43689162 3.52e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 208454433 2915957 BCM_CMT_1011-3108958 3.52e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 228135810 2915957 pilot_1_YRI_9945493_chr19_43689163 3.52e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 237674235 2915957 pilot_1_CEU_7278864_chr19_43689163 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 243881014 2915957 pilot_1_CHB+JPT_5766091_chr19_43689163 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 255668676 2915957 SNP49681_19_43689163 3.52e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 283206018 2915957 GMI_AK_SNP_7526439 3.52e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997323T>C;NG_008866.1:g.77984T>C;NM_000540.2:c.8692+137T>C;NM_001042723.1:c.8692+137T>C 292248514 2915957 SNP_1754872_chr19_43689163 3.52e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 40971229 35973146 hCV32823877 3.49e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 BL 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 256205641 35973146 SNP3815_19_43689204 3.49e-01 2010.08.20 2010.08.20 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 288525680 35973146 GMI_NA10851_INDEL_296301 3.49e-01 2010.12.22 2010.12.22 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 289387904 35973146 GMI_AK_INDEL_1065361 3.49e-01 2010.12.30 2011.12.30 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 327903791 35973146 JPTCHB_chr19_43689204_indel 3.49e-01 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 328032210 35973146 CEU_chr19_43689204_indel 3.49e-01 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 328276240 35973146 YRI_chr19_43689204_indel 3.49e-01 2011.03.13 2011.04.04 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997364_38997365insTCA;NG_008866.1:g.78025_78026insTCA;NM_000540.2:c.8693-105_8693-104insTCA;NM_001042723.1:c.8693-105_8693-104insTCA 499576349 35973146 20110316_indels_chr19_38997364_38997365 3.49e-01 2012.03.20 2012.03.20 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38997365_38997366insCAT;NC_000019.9:g.38997365_38997366insTCA;NG_008866.1:g.78026_78027insCAT;NG_008866.1:g.78026_78027insTCA;NM_000540.2:c.8693-104_8693-103insCAT;NM_000540.2:c.8693-104_8693-103insTCA;NM_001042723.1:c.8693-104_8693-103insCAT;NM_001042723.1:c.8693-104_8693-103insTCA 100286329 67579033 INDEL_GP36_2008a_1871791_0 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 DEVINE_LAB 6261 NC_000019.9:g.38997365_38997366insCAT;NC_000019.9:g.38997365_38997366insTCA;NG_008866.1:g.78026_78027insCAT;NG_008866.1:g.78026_78027insTCA;NM_000540.2:c.8693-104_8693-103insCAT;NM_000540.2:c.8693-104_8693-103insTCA;NM_001042723.1:c.8693-104_8693-103insCAT;NM_001042723.1:c.8693-104_8693-103insTCA 100286330 67579033 INDEL_GP36_2008a_1871791_1 2008.05.16 2008.05.16 2009.02.06 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.38997365_38997366insCAT;NC_000019.9:g.38997365_38997366insTCA;NG_008866.1:g.78026_78027insCAT;NG_008866.1:g.78026_78027insTCA;NM_000540.2:c.8693-104_8693-103insCAT;NM_000540.2:c.8693-104_8693-103insTCA;NM_001042723.1:c.8693-104_8693-103insCAT;NM_001042723.1:c.8693-104_8693-103insTCA 193510344 67579033 BUSHMAN-chr19-43689205-43689205 2010.02.16 2010.02.16 2009.02.06 2012.05.16 137 PJP 6261 NC_000019.9:g.38997365_38997366insCAT;NC_000019.9:g.38997365_38997366insTCA;NG_008866.1:g.78026_78027insCAT;NG_008866.1:g.78026_78027insTCA;NM_000540.2:c.8693-104_8693-103insCAT;NM_000540.2:c.8693-104_8693-103insTCA;NM_001042723.1:c.8693-104_8693-103insCAT;NM_001042723.1:c.8693-104_8693-103insTCA 294962536 67579033 DIP_400240_chr19_43689205 2011.01.22 2011.01.22 2009.02.06 2012.05.16 137 HGSV 6261 NC_000019.9:g.38997366_38997367insATC;NG_008866.1:g.78027_78028insATC;NM_000540.2:c.8693-103_8693-102insATC;NM_001042723.1:c.8693-103_8693-102insATC 79902645 59123440 Cor18507_DIV_20070510.chr19_43689206-43689207_1 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.38997366_38997367insATC;NG_008866.1:g.78027_78028insATC;NM_000540.2:c.8693-103_8693-102insATC;NM_001042723.1:c.8693-103_8693-102insATC 80011574 59123440 Cor18507_DIV_20070510.chr19_43689206-43689207_2 2007.11.24 2007.11.24 2007.12.15 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997366_38997367insATC;NG_008866.1:g.78027_78028insATC;NM_000540.2:c.8693-103_8693-102insATC;NM_001042723.1:c.8693-103_8693-102insATC 103848658 59123440 JWB-4183136 2008.06.07 2009.05.12 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.38997367_38997368insATC;NG_008866.1:g.78028_78029insATC;NM_000540.2:c.8693-102_8693-101insATC;NM_001042723.1:c.8693-102_8693-101insATC 101828452 72302034 INDEL_GP36_2008a_1834426_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 GMI 6261 NC_000019.9:g.38997367T>A;NG_008866.1:g.78028T>A;NM_000540.2:c.8693-102T>A;NM_001042723.1:c.8693-102T>A 283206019 201876942 GMI_AK_SNP_7526440 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.38997392G>A;NG_008866.1:g.78053G>A;NM_000540.2:c.8693-77G>A;NM_001042723.1:c.8693-77G>A 228135812 76375997 pilot_1_YRI_9945495_chr19_43689232 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 4113624 2915958 AC011469.6_93055 3.52e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 44165923 2915958 hCV7821629 3.52e-01 germline untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 52076603 2915958 NT_011109.15_11265677 3.52e-01 germline untested 2006.03.29 2006.03.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 78883872 2915958 Cor18507_SNV_20070510.chr19_43689299 3.52e-01 unknown untested 2007.10.21 2007.10.21 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 103437761 2915958 BGI_rs2915958 3.52e-01 unknown untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 115120628 2915958 NA19240_2008_12_16_3257618_chr19_43689299 3.52e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 117702637 2915958 NA18507_000043909_NCBI36.1_chr19_43689299 3.52e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 139725600 2915958 ENSSNP3572050 3.52e-01 germline untested 2009.05.19 2009.10.16 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 160598713 2915958 HumanOmni1-Quad_v1-0_B_rs2915958-128_T_F_1577842122 3.52e-01 unknown untested 2009.08.06 2009.10.03 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 168183425 2915958 NA07022_36_chr19_43689299 3.52e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 169707938 2915958 NA19240_36_chr19_43689299 3.52e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 203750983 2915958 BUSHMAN-chr19-43689298 3.52e-01 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 208514060 2915958 BCM_CMT_1011-3129260 3.52e-01 germline untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 228135813 2915958 pilot_1_YRI_9945496_chr19_43689299 3.52e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 237674236 2915958 pilot_1_CEU_7278865_chr19_43689299 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 243881015 2915958 pilot_1_CHB+JPT_5766092_chr19_43689299 3.52e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 255668680 2915958 SNP49682_19_43689299 3.52e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 283206020 2915958 GMI_AK_SNP_7526441 3.52e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 292248515 2915958 SNP_1754873_chr19_43689299 3.52e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8693-10G>C NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 475871624 2915958 RYR1_00366 3.52e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 481609393 2915958 HumanOmni1-Quad_v1-0_C_rs2915958-131_T_F_1863336729 3.52e-01 germline untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 491158065 2915958 20110521_exome_665863_chr19_38997459 3.52e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997459G>C;NG_008866.1:g.78120G>C;NM_000540.2:c.8693-10G>C;NM_001042723.1:c.8693-10G>C 491766236 2915958 SNV-chr19-43689299 3.52e-01 unknown untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38997479C>G;NG_008866.1:g.78140C>G;NM_000540.2:c.8703C>G;NM_001042723.1:c.8703C>G;NP_000531.2:p.Thr2901=;NP_001036188.1:p.Thr2901= 342496583 148311475 ESP2500-chr19-38997479 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38997509C>A;NG_008866.1:g.78170C>A;NM_000540.2:c.8733C>A;NM_001042723.1:c.8733C>A;NP_000531.2:p.Leu2911=;NP_001036188.1:p.Leu2911= 489164548 200427576 20110521_exome_255664_chr19_38997509 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.8816G>A NC_000019.9:g.38997592G>A;NG_008866.1:g.78253G>A;NM_000540.2:c.8816G>A;NM_001042723.1:c.8816G>A;NP_000531.2:p.Arg2939Lys;NP_001036188.1:p.Arg2939Lys 252444693 118192125 CCORE_17 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8816G>A NC_000019.9:g.38997592G>A;NG_008866.1:g.78253G>A;NM_000540.2:c.8816G>A;NM_001042723.1:c.8816G>A;NP_000531.2:p.Arg2939Lys;NP_001036188.1:p.Arg2939Lys 475871625 118192125 RYR1_00286 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997608C>T;NG_008866.1:g.78269C>T;NM_000540.2:c.8816+16C>T;NM_001042723.1:c.8816+16C>T 465586860 181138438 20101123_snps_11754090_chr19_38997608 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997608C>T;NG_008866.1:g.78269C>T;NM_000540.2:c.8816+16C>T;NM_001042723.1:c.8816+16C>T 491158066 181138438 20110521_exome_665864_chr19_38997608 2.30e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 4113625 2915959 AC011469.6_93205 3.50e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 21518799 2915959 WGSA-200403-chr19.chr19.NT_011109.15_11265827 3.50e-01 unknown untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 44159007 2915959 hCV7821628 3.50e-01 germline untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 78996305 2915959 Cor18507_SNV_20070510.chr19_43689449 3.50e-01 germline untested 2007.10.21 2007.10.21 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 103437762 2915959 BGI_rs2915959 3.50e-01 unknown untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 115120636 2915959 NA19240_2008_12_16_3257619_chr19_43689449 3.50e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 142532662 2915959 ENSSNP3774345 3.50e-01 germline untested 2009.06.05 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 168183437 2915959 NA07022_36_chr19_43689449 3.50e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 203750984 2915959 BUSHMAN-chr19-43689448 3.50e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 210946308 2915959 CEU.trio.3.2010_162542_chr19_43689449 3.50e-01 germline untested 2010.03.29 2010.03.29 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 228135814 2915959 pilot_1_YRI_9945497_chr19_43689449 3.50e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 237674237 2915959 pilot_1_CEU_7278866_chr19_43689449 3.50e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 243881016 2915959 pilot_1_CHB+JPT_5766093_chr19_43689449 3.50e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 255668686 2915959 SNP49683_19_43689449 3.50e-01 unknown untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 283206021 2915959 GMI_AK_SNP_7526442 3.50e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 292248516 2915959 SNP_1754874_chr19_43689449 3.50e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8816+17T>A NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 475871626 2915959 RYR1_00033 3.50e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 491158067 2915959 20110521_exome_665865_chr19_38997609 3.50e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997609T>A;NG_008866.1:g.78270T>A;NM_000540.2:c.8816+17T>A;NM_001042723.1:c.8816+17T>A 491766237 2915959 SNV-chr19-43689449 3.50e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 4171579 2960346 AC091486.2_66421 3.52e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 44187753 2960346 hCV7821624 3.52e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 78833799 2960346 Cor18507_SNV_20070510.chr19_43689475 3.52e-01 unknown untested 2007.10.20 2007.10.20 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 103437763 2960346 BGI_rs2960346 3.52e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 143021324 2960346 ENSSNP5018799 3.52e-01 unknown untested 2009.06.05 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 168183451 2960346 NA07022_36_chr19_43689475 3.52e-01 unknown untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 169707952 2960346 NA19240_36_chr19_43689475 3.52e-01 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 203750985 2960346 BUSHMAN-chr19-43689474 3.52e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 208486242 2960346 BCM_CMT_1011-3119494 3.52e-01 unknown untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 210946311 2960346 CEU.trio.3.2010_162543_chr19_43689475 3.52e-01 unknown untested 2010.03.29 2010.03.29 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 211962630 2960346 YRI.trio.3.2010_1440252_chr19_43689475 3.52e-01 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 228135815 2960346 pilot_1_YRI_9945498_chr19_43689475 3.52e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 237674238 2960346 pilot_1_CEU_7278867_chr19_43689475 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 243881017 2960346 pilot_1_CHB+JPT_5766094_chr19_43689475 3.52e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 255668690 2960346 SNP49684_19_43689475 3.52e-01 unknown untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 283206022 2960346 GMI_AK_SNP_7526443 3.52e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 292248517 2960346 SNP_1754875_chr19_43689475 3.52e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8816+43A>C NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 475871627 2960346 RYR1_00368 3.52e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 491158068 2960346 20110521_exome_665866_chr19_38997635 3.52e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997635A>C;NG_008866.1:g.78296A>C;NM_000540.2:c.8816+43A>C;NM_001042723.1:c.8816+43A>C 491766238 2960346 SNV-chr19-43689475 3.52e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38997640C>A;NG_008866.1:g.78301C>A;NM_000540.2:c.8816+48C>A;NM_001042723.1:c.8816+48C>A 491766239 199886116 SNV-chr19-43689480 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 4171580 2960347 AC091486.2_66465 3.51e-01 unknown untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 44179969 2960347 hCV7821623 3.51e-01 unknown untested 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 80440771 2960347 Cor18507_SNV_20070510.chr19_43689519 3.51e-01 unknown untested 2007.11.25 2007.11.25 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 90969948 2960347 JWB-1168206 3.51e-01 unknown untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 111365814 2960347 CEU.trio.12.15.2008_3616663_chr19_43689519 3.51e-01 unknown untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 117702639 2960347 NA18507_000043910_NCBI36.1_chr19_43689519 3.51e-01 unknown untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 136267492 2960347 ENSSNP1527930 3.51e-01 germline untested 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 137670397 2960347 ENSSNP11444337 3.51e-01 unknown untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 168183469 2960347 NA07022_36_chr19_43689519 3.51e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 203750986 2960347 BUSHMAN-chr19-43689518 3.51e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 208488784 2960347 BCM_CMT_1011-3120367 3.51e-01 germline untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 211962632 2960347 YRI.trio.3.2010_1440253_chr19_43689519 3.51e-01 unknown untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 228135816 2960347 pilot_1_YRI_9945499_chr19_43689519 3.51e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 237674239 2960347 pilot_1_CEU_7278868_chr19_43689519 3.51e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 243881018 2960347 pilot_1_CHB+JPT_5766095_chr19_43689519 3.51e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 255668697 2960347 SNP49685_19_43689519 3.51e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 283206023 2960347 GMI_AK_SNP_7526444 3.51e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 292248518 2960347 SNP_1754876_chr19_43689519 3.51e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.8816+87G>T NC_000019.9:g.38997679G>T;NG_008866.1:g.78340G>T;NM_000540.2:c.8816+87G>T;NM_001042723.1:c.8816+87G>T 475871628 2960347 RYR1_00369 3.51e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997709_38997710insCC;NG_008866.1:g.78370_78371insCC;NM_000540.2:c.8816+117_8816+118insCC;NM_001042723.1:c.8816+117_8816+118insCC 499576353 201625810 20110316_indels_chr19_38997709_38997710 1.37e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997744C>T;NG_008866.1:g.78405C>T;NM_000540.2:c.8816+152C>T;NM_001042723.1:c.8816+152C>T 237674240 117335934 pilot_1_CEU_7278869_chr19_43689584 6.90e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38997744C>T;NG_008866.1:g.78405C>T;NM_000540.2:c.8816+152C>T;NM_001042723.1:c.8816+152C>T 483454947 117335934 HumanOmni2.5-4v1_D_kgp497421-0_B_F_1816111724 6.90e-03 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38997744C>T;NG_008866.1:g.78405C>T;NM_000540.2:c.8816+152C>T;NM_001042723.1:c.8816+152C>T 483826008 117335934 HumanOmni2.5-4v1_B_SNP19-43689584-0_B_F_1644445323 6.90e-03 2012.02.03 2012.02.03 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997750A>G;NG_008866.1:g.78411A>G;NM_000540.2:c.8816+158A>G;NM_001042723.1:c.8816+158A>G 465586861 186646051 20101123_snps_11754091_chr19_38997750 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 4171581 2960348 AC091486.2_66549 3.52e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 21513777 2960348 WGSA-200403-chr19.chr19.NT_011109.15_11265981 3.52e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 44161962 2960348 hCV7821622 3.52e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 80464399 2960348 Cor18507_SNV_20070510.chr19_43689603 3.52e-01 2007.11.25 2007.11.25 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 90969950 2960348 JWB-1168207 3.52e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 117702641 2960348 NA18507_000043911_NCBI36.1_chr19_43689603 3.52e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 137670400 2960348 ENSSNP11444338 3.52e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 144095910 2960348 ENSSNP5527841 3.52e-01 2009.06.06 2009.10.17 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 168183478 2960348 NA07022_36_chr19_43689603 3.52e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 169707976 2960348 NA19240_36_chr19_43689603 3.52e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 203750987 2960348 BUSHMAN-chr19-43689602 3.52e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 211962634 2960348 YRI.trio.3.2010_1440254_chr19_43689603 3.52e-01 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 228135817 2960348 pilot_1_YRI_9945500_chr19_43689603 3.52e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 237674241 2960348 pilot_1_CEU_7278870_chr19_43689603 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 243881019 2960348 pilot_1_CHB+JPT_5766096_chr19_43689603 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 255668700 2960348 SNP49686_19_43689603 3.52e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 283206024 2960348 GMI_AK_SNP_7526445 3.52e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38997763C>A;NG_008866.1:g.78424C>A;NM_000540.2:c.8816+171C>A;NM_001042723.1:c.8816+171C>A 292248519 2960348 SNP_1754877_chr19_43689603 3.52e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 41023434 35822269 hCV32823878 3.49e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 193510346 35822269 BUSHMAN-chr19-43689635-43689635 3.49e-01 2010.02.16 2010.02.16 2006.03.15 2012.11.28 137 BL 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 256205644 35822269 SNP3816_19_43689635 3.49e-01 2010.08.20 2010.08.20 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 327903793 35822269 JPTCHB_chr19_43689635_indel 3.49e-01 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 328032212 35822269 CEU_chr19_43689635_indel 3.49e-01 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 328276241 35822269 YRI_chr19_43689635_indel 3.49e-01 2011.03.13 2011.04.04 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997795_38997796insAAG;NG_008866.1:g.78456_78457insAAG;NM_000540.2:c.8816+203_8816+204insAAG;NM_001042723.1:c.8816+203_8816+204insAAG 499576357 35822269 20110316_indels_chr19_38997795_38997796 3.49e-01 2012.03.20 2012.03.20 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38997796_38997797insAAG;NG_008866.1:g.78457_78458insAAG;NM_000540.2:c.8816+204_8816+205insAAG;NM_001042723.1:c.8816+204_8816+205insAAG 101030712 72085775 INDEL_GP36_2008a_1834427_0 2008.05.17 2008.05.17 2009.02.13 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38997796_38997797insAAG;NG_008866.1:g.78457_78458insAAG;NM_000540.2:c.8816+204_8816+205insAAG;NM_001042723.1:c.8816+204_8816+205insAAG 102113178 72085775 INDEL_GP36_2008a_1850444_0 2008.05.18 2008.05.18 2009.02.13 2012.05.11 137 PJP 6261 NC_000019.9:g.38997796_38997797insAAG;NG_008866.1:g.78457_78458insAAG;NM_000540.2:c.8816+204_8816+205insAAG;NM_001042723.1:c.8816+204_8816+205insAAG 294962537 72085775 DIP_400241_chr19_43689636 2011.01.22 2011.01.22 2009.02.13 2012.05.11 137 HGSV 6261 NC_000019.9:g.38997798_38997799insAAG;NG_008866.1:g.78459_78460insAAG;NM_000540.2:c.8816+206_8816+207insAAG;NM_001042723.1:c.8816+206_8816+207insAAG 79902642 61155253 Cor18507_DIV_20070510.chr19_43689638-43689639_1 2007.11.24 2007.11.24 2007.12.16 2011.07.08 137 HGSV 6261 NC_000019.9:g.38997798_38997799insAAG;NG_008866.1:g.78459_78460insAAG;NM_000540.2:c.8816+206_8816+207insAAG;NM_001042723.1:c.8816+206_8816+207insAAG 80011578 61155253 Cor18507_DIV_20070510.chr19_43689638-43689639_2 2007.11.24 2007.11.24 2007.12.16 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997798_38997799insAAG;NG_008866.1:g.78459_78460insAAG;NM_000540.2:c.8816+206_8816+207insAAG;NM_001042723.1:c.8816+206_8816+207insAAG 103848660 61155253 JWB-4183137 2008.06.07 2009.05.12 2007.12.16 2011.07.08 137 HGSV 6261 NC_000019.9:g.38997868A>G;NG_008866.1:g.78529A>G;NM_000540.2:c.8816+276A>G;NM_001042723.1:c.8816+276A>G 81328585 60530219 Cor18507_SNV_20070510.chr19_43689708 8.33e-02 2007.11.29 2007.11.29 2007.12.16 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997868A>G;NG_008866.1:g.78529A>G;NM_000540.2:c.8816+276A>G;NM_001042723.1:c.8816+276A>G 117702642 60530219 NA18507_000043912_NCBI36.1_chr19_43689708 8.33e-02 2009.01.20 2009.01.20 2007.12.16 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38997868A>G;NG_008866.1:g.78529A>G;NM_000540.2:c.8816+276A>G;NM_001042723.1:c.8816+276A>G 208525754 60530219 BCM_CMT_1011-3133262 8.33e-02 2010.03.19 2010.03.19 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997868A>G;NG_008866.1:g.78529A>G;NM_000540.2:c.8816+276A>G;NM_001042723.1:c.8816+276A>G 237674242 60530219 pilot_1_CEU_7278871_chr19_43689708 8.33e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997868A>G;NG_008866.1:g.78529A>G;NM_000540.2:c.8816+276A>G;NM_001042723.1:c.8816+276A>G 243881020 60530219 pilot_1_CHB+JPT_5766097_chr19_43689708 8.33e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 17617917 11880187 CSHL-HuCC-200402.chr19.NT_011109.15_11266114 3.53e-01 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 21535624 11880187 WGSA-200403-chr19.chr19.NT_011109.15_11266114 3.53e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 80447697 11880187 Cor18507_SNV_20070510.chr19_43689736 3.53e-01 2007.11.25 2007.11.25 2004.02.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 90969952 11880187 JWB-1168208 3.53e-01 2008.03.01 2008.03.01 2004.02.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 117702645 11880187 NA18507_000043913_NCBI36.1_chr19_43689736 3.53e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 137670402 11880187 ENSSNP11444339 3.53e-01 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 143246093 11880187 ENSSNP4033765 3.53e-01 2009.06.06 2009.10.19 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 168183490 11880187 NA07022_36_chr19_43689736 3.53e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 203750988 11880187 BUSHMAN-chr19-43689735 3.53e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 211962636 11880187 YRI.trio.3.2010_1440255_chr19_43689736 3.53e-01 2010.03.31 2010.03.31 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 228135818 11880187 pilot_1_YRI_9945501_chr19_43689736 3.53e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 237674243 11880187 pilot_1_CEU_7278872_chr19_43689736 3.53e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 243881021 11880187 pilot_1_CHB+JPT_5766098_chr19_43689736 3.53e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 255668706 11880187 SNP49687_19_43689736 3.53e-01 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 283206025 11880187 GMI_AK_SNP_7526446 3.53e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.38997896C>T;NG_008866.1:g.78557C>T;NM_000540.2:c.8816+304C>T;NM_001042723.1:c.8816+304C>T 292248520 11880187 SNP_1754878_chr19_43689736 3.53e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.38998025G>T;NG_008866.1:g.78686G>T;NM_000540.2:c.8817-327G>T;NM_001042723.1:c.8817-327G>T 21537979 12980578 WGSA-200403-chr19.chr19.NT_011109.15_11266243 3.02e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38998025G>T;NG_008866.1:g.78686G>T;NM_000540.2:c.8817-327G>T;NM_001042723.1:c.8817-327G>T 41050738 12980578 hCV30930956 3.02e-02 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38998025G>T;NG_008866.1:g.78686G>T;NM_000540.2:c.8817-327G>T;NM_001042723.1:c.8817-327G>T 144017003 12980578 ENSSNP4412447 3.02e-02 2009.06.06 2009.10.20 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38998025G>T;NG_008866.1:g.78686G>T;NM_000540.2:c.8817-327G>T;NM_001042723.1:c.8817-327G>T 292248521 12980578 SNP_1754879_chr19_43689865 3.02e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998025G>T;NG_008866.1:g.78686G>T;NM_000540.2:c.8817-327G>T;NM_001042723.1:c.8817-327G>T 340454636 12980578 20100804_snps_12098177_chr19_38998025 3.02e-02 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998071C>T;NG_008866.1:g.78732C>T;NM_000540.2:c.8817-281C>T;NM_001042723.1:c.8817-281C>T 340454637 150011718 20100804_snps_12098178_chr19_38998071 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SI_EXO 6261 NC_000019.9:g.38998279G>A;NG_008866.1:g.78940G>A;NM_000540.2:c.8817-73G>A;NM_001042723.1:c.8817-73G>A 52059313 41274328 NT_011109.15_11266497 1.01e-02 2006.03.29 2006.03.29 2006.10.18 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38998279G>A;NG_008866.1:g.78940G>A;NM_000540.2:c.8817-73G>A;NM_001042723.1:c.8817-73G>A 237674244 41274328 pilot_1_CEU_7278873_chr19_43690119 1.01e-02 2010.05.01 2010.05.01 2006.10.18 2011.09.09 137 ABI 6261 NC_000019.9:g.38998289A>G;NG_008866.1:g.78950A>G;NM_000540.2:c.8817-63A>G;NM_001042723.1:c.8817-63A>G 44160741 35648526 hCV11507926 2.24e-02 2005.07.18 2005.07.18 2006.03.15 2011.09.09 137 SI_EXO 6261 NC_000019.9:g.38998289A>G;NG_008866.1:g.78950A>G;NM_000540.2:c.8817-63A>G;NM_001042723.1:c.8817-63A>G 52059314 35648526 NT_011109.15_11266507 2.24e-02 2006.03.29 2006.03.29 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38998289A>G;NG_008866.1:g.78950A>G;NM_000540.2:c.8817-63A>G;NM_001042723.1:c.8817-63A>G 96305698 35648526 1103691141852 2.24e-02 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.38998289A>G;NG_008866.1:g.78950A>G;NM_000540.2:c.8817-63A>G;NM_001042723.1:c.8817-63A>G 132762454 35648526 ENSSNP1527931 2.24e-02 2009.05.12 2009.10.15 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38998289A>G;NG_008866.1:g.78950A>G;NM_000540.2:c.8817-63A>G;NM_001042723.1:c.8817-63A>G 237674245 35648526 pilot_1_CEU_7278874_chr19_43690129 2.24e-02 2010.05.01 2010.05.01 2006.03.15 2011.09.09 137 ILLUMINA 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 161063693 79294840 HumanOmni1-Quad_v1-0_B_SNP19-43690202-128_B_R_1588038627 2.30e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 228135819 79294840 pilot_1_YRI_9945502_chr19_43690202 2.30e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 342496584 79294840 ESP2500-chr19-38998362 2.30e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 479286243 79294840 HumanOmni1-Quad_v1-0_C_kgp21499960-0_B_R_1844352200 2.30e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 491158069 79294840 20110521_exome_665867_chr19_38998362 2.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.38998362G>A;NG_008866.1:g.79023G>A;NM_000540.2:c.8827G>A;NM_001042723.1:c.8827G>A;NP_000531.2:p.Asp2943Asn;NP_001036188.1:p.Asp2943Asn 491546482 79294840 nonsyn_262708_chr_19_38998362 2.30e-03 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.38998376C>T;NG_008866.1:g.79037C>T;NM_000540.2:c.8841C>T;NM_001042723.1:c.8841C>T;NP_000531.2:p.Asp2947=;NP_001036188.1:p.Asp2947= 491766240 200982346 SNV-chr19-43690216 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 ABI 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 41019491 34199070 hCV32823879 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 96281041 34199070 1103691141853 2008.03.26 2008.03.26 2006.03.13 2012.11.28 137 BL 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 256205647 34199070 SNP3817_19_43690337 2010.08.20 2010.08.20 2006.03.13 2012.11.28 137 GMI 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 289387905 34199070 GMI_AK_INDEL_1065362 2010.12.30 2011.12.30 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 327903797 34199070 JPTCHB_chr19_43690337_indel 2011.03.13 2011.04.03 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 328032214 34199070 CEU_chr19_43690337_indel 2011.03.13 2011.04.03 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 328276242 34199070 YRI_chr19_43690337_indel 2011.03.13 2011.04.04 2006.03.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998494_38998495insC;NG_008866.1:g.79155_79156insC;NM_000540.2:c.8932+27_8932+28insC;NM_001042723.1:c.8932+27_8932+28insC 499576359 34199070 20110316_indels_chr19_38998497_38998498 2012.03.20 2012.03.20 2006.03.13 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38998498_38998499insC;NG_008866.1:g.79159_79160insC;NM_000540.2:c.8932+31_8932+32insC;NM_001042723.1:c.8932+31_8932+32insC 8090640 5828009 INDEL_GP31_100120 2003.04.16 2003.10.10 2003.04.21 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38998498_38998499insC;NG_008866.1:g.79159_79160insC;NM_000540.2:c.8932+31_8932+32insC;NM_001042723.1:c.8932+31_8932+32insC 101997298 5828009 INDEL_GP36_2008a_1856379_0 2008.05.18 2008.05.18 2003.04.21 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.38998498_38998499insC;NG_008866.1:g.79159_79160insC;NM_000540.2:c.8932+31_8932+32insC;NM_001042723.1:c.8932+31_8932+32insC 101997300 5828009 INDEL_GP36_2008a_1856379_1 2008.05.18 2008.05.18 2003.04.21 2012.05.11 137 PJP 6261 NC_000019.9:g.38998498_38998499insC;NG_008866.1:g.79159_79160insC;NM_000540.2:c.8932+31_8932+32insC;NM_001042723.1:c.8932+31_8932+32insC 294962538 5828009 DIP_400242_chr19_43690341 2011.01.22 2011.01.22 2003.04.21 2012.05.11 137 1000GENOMES 6261 NC_000019.9:g.38998508A>G;NG_008866.1:g.79169A>G;NM_000540.2:c.8932+41A>G;NM_001042723.1:c.8932+41A>G 489164551 200730524 20110521_exome_255665_chr19_38998508 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998524G>T;NG_008866.1:g.79185G>T;NM_000540.2:c.8932+57G>T;NM_001042723.1:c.8932+57G>T 228135820 116749998 pilot_1_YRI_9945503_chr19_43690364 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38998556C>G;NG_008866.1:g.79217C>G;NM_000540.2:c.8932+89C>G;NM_001042723.1:c.8932+89C>G 465586862 189653400 20101123_snps_11754092_chr19_38998556 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38998565_38998575delTCCTCCCCTTA;NG_008866.1:g.79226_79236delTCCTCCCCTTA;NM_000540.2:c.8932+98_8932+108delTCCTCCCCTTA;NM_001042723.1:c.8932+98_8932+108delTCCTCCCCTTA 96281042 67918215 1103691141854 1.75e-01 2008.03.26 2008.03.26 2009.02.06 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38998565_38998575delTCCTCCCCTTA;NG_008866.1:g.79226_79236delTCCTCCCCTTA;NM_000540.2:c.8932+98_8932+108delTCCTCCCCTTA;NM_001042723.1:c.8932+98_8932+108delTCCTCCCCTTA 101199082 67918215 INDEL_GP36_2008a_1288267_0 1.75e-01 2008.05.17 2008.05.17 2009.02.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998565_38998575delTCCTCCCCTTA;NG_008866.1:g.79226_79236delTCCTCCCCTTA;NM_000540.2:c.8932+98_8932+108delTCCTCCCCTTA;NM_001042723.1:c.8932+98_8932+108delTCCTCCCCTTA 328032215 67918215 CEU_chr19_43690404_indel 1.75e-01 2011.03.13 2011.04.03 2009.02.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998565_38998575delTCCTCCCCTTA;NG_008866.1:g.79226_79236delTCCTCCCCTTA;NM_000540.2:c.8932+98_8932+108delTCCTCCCCTTA;NM_001042723.1:c.8932+98_8932+108delTCCTCCCCTTA 328276243 67918215 YRI_chr19_43690404_indel 1.75e-01 2011.03.13 2011.04.04 2009.02.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998565_38998575delTCCTCCCCTTA;NG_008866.1:g.79226_79236delTCCTCCCCTTA;NM_000540.2:c.8932+98_8932+108delTCCTCCCCTTA;NM_001042723.1:c.8932+98_8932+108delTCCTCCCCTTA 499576365 67918215 20110316_indels_chr19_38998564_38998574 1.75e-01 2012.03.20 2012.03.20 2009.02.06 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38998567delC;NC_000019.9:g.38998567delCinsCTCCCCTTATC;NG_008866.1:g.79228delC;NG_008866.1:g.79228delCinsCTCCCCTTATC;NM_000540.2:c.8932+100delC;NM_000540.2:c.8932+100delCinsCTCCCCTTATC;NM_001042723.1:c.8932+100delC;NM_001042723.1:c.8932+100delCinsCTCCCCTTATC 100196523 71860891 INDEL_GP36_2008a_1871340_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.38998567delC;NC_000019.9:g.38998567delCinsCTCCCCTTATC;NG_008866.1:g.79228delC;NG_008866.1:g.79228delCinsCTCCCCTTATC;NM_000540.2:c.8932+100delC;NM_000540.2:c.8932+100delCinsCTCCCCTTATC;NM_001042723.1:c.8932+100delC;NM_001042723.1:c.8932+100delCinsCTCCCCTTATC 103616561 71860891 JWB-4066189 2008.06.06 2009.05.11 2009.02.13 2011.07.08 137 PJP 6261 NC_000019.9:g.38998567delC;NC_000019.9:g.38998567delCinsCTCCCCTTATC;NG_008866.1:g.79228delC;NG_008866.1:g.79228delCinsCTCCCCTTATC;NM_000540.2:c.8932+100delC;NM_000540.2:c.8932+100delCinsCTCCCCTTATC;NM_001042723.1:c.8932+100delC;NM_001042723.1:c.8932+100delCinsCTCCCCTTATC 294962539 71860891 DIP_400243_chr19_43690407 2011.01.22 2011.01.22 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38998610C>T;NG_008866.1:g.79271C>T;NM_000540.2:c.8932+143C>T;NM_001042723.1:c.8932+143C>T 465586863 182330032 20101123_snps_11754093_chr19_38998610 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38998628G>A;NG_008866.1:g.79289G>A;NM_000540.2:c.8932+161G>A;NM_001042723.1:c.8932+161G>A 465586864 186944357 20101123_snps_11754094_chr19_38998628 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38998632C>T;NG_008866.1:g.79293C>T;NM_000540.2:c.8932+165C>T;NM_001042723.1:c.8932+165C>T 465586865 191023408 20101123_snps_11754095_chr19_38998632 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38998771A>G;NG_008866.1:g.79432A>G;NM_000540.2:c.8932+304A>G;NM_001042723.1:c.8932+304A>G 203750989 77696417 BUSHMAN-chr19-43690610 3.98e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998771A>G;NG_008866.1:g.79432A>G;NM_000540.2:c.8932+304A>G;NM_001042723.1:c.8932+304A>G 228135822 77696417 pilot_1_YRI_9945505_chr19_43690611 3.98e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998771A>G;NG_008866.1:g.79432A>G;NM_000540.2:c.8932+304A>G;NM_001042723.1:c.8932+304A>G 237674246 77696417 pilot_1_CEU_7278875_chr19_43690611 3.98e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38998773_38998774insC;NG_008866.1:g.79434_79435insC;NM_000540.2:c.8932+306_8932+307insC;NM_001042723.1:c.8932+306_8932+307insC 193510348 113551513 BUSHMAN-chr19-43690613-43690613 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38998781G>A;NG_008866.1:g.79442G>A;NM_000540.2:c.8932+314G>A;NM_001042723.1:c.8932+314G>A 465586866 183502202 20101123_snps_11754096_chr19_38998781 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38998787G>T;NG_008866.1:g.79448G>T;NM_000540.2:c.8932+320G>T;NM_001042723.1:c.8932+320G>T 203750990 112862857 BUSHMAN-chr19-43690626 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 2294341 1473249 TSC0393018 3.52e-01 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 4171561 1473249 AC091486.2_48301 3.52e-01 2001.10.15 2003.10.10 2000.10.23 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 14830292 1473249 NT_011109.15_11267024 3.52e-01 2003.11.12 2003.11.22 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 40977889 1473249 hCV26218843 3.52e-01 2005.07.17 2005.07.17 2000.10.23 2012.11.28 137 HGSV 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 82362134 1473249 Cor18555_SNV_20070510.chr19_43690646 3.52e-01 2007.12.02 2007.12.02 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 96305699 1473249 1103691141855 3.52e-01 2008.03.26 2008.03.26 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 115120644 1473249 NA19240_2008_12_16_3257620_chr19_43690646 3.52e-01 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 117702647 1473249 NA18507_000043914_NCBI36.1_chr19_43690646 3.52e-01 2009.01.20 2009.01.20 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 136267488 1473249 ENSSNP1527932 3.52e-01 2009.05.15 2009.10.15 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 168183502 1473249 NA07022_36_chr19_43690646 3.52e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 169708001 1473249 NA19240_36_chr19_43690646 3.52e-01 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 203750991 1473249 BUSHMAN-chr19-43690645 3.52e-01 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 208470189 1473249 BCM_CMT_1011-3114263 3.52e-01 2010.03.19 2010.03.19 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 228135823 1473249 pilot_1_YRI_9945506_chr19_43690646 3.52e-01 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 237674247 1473249 pilot_1_CEU_7278876_chr19_43690646 3.52e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 243881022 1473249 pilot_1_CHB+JPT_5766099_chr19_43690646 3.52e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 BL 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 255668711 1473249 SNP49688_19_43690646 3.52e-01 2010.08.20 2010.08.20 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 283206026 1473249 GMI_AK_SNP_7526447 3.52e-01 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 PJP 6261 NC_000019.9:g.38998806A>C;NG_008866.1:g.79467A>C;NM_000540.2:c.8932+339A>C;NM_001042723.1:c.8932+339A>C 292248522 1473249 SNP_1754880_chr19_43690646 3.52e-01 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.38998851T>G;NG_008866.1:g.79512T>G;NM_000540.2:c.8932+384T>G;NM_001042723.1:c.8932+384T>G 283206027 201826450 GMI_AK_SNP_7526448 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ABI 6261 NC_000019.9:g.38998889_38998890insC;NG_008866.1:g.79550_79551insC;NM_000540.2:c.8932+422_8932+423insC;NM_001042723.1:c.8932+422_8932+423insC 41037504 34750512 hCV32823881 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.38998913G>C;NG_008866.1:g.79574G>C;NM_000540.2:c.8932+446G>C;NM_001042723.1:c.8932+446G>C 465586867 188317728 20101123_snps_11754097_chr19_38998913 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.38998915T>A;NG_008866.1:g.79576T>A;NM_000540.2:c.8932+448T>A;NM_001042723.1:c.8932+448T>A 14695197 10404448 chr19.NT_011109.15_11267133 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 4171562 2960330 AC091486.2_48437 3.45e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 14830293 2960330 NT_011109.15_11267160 3.45e-01 2003.11.12 2003.11.22 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 41033426 2960330 hCV7821605 3.45e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 82086902 2960330 Cor18555_SNV_20070510.chr19_43690782 3.45e-01 2007.12.02 2007.12.02 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 90969954 2960330 JWB-1168209 3.45e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 96305700 2960330 1103691141856 3.45e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 103437764 2960330 BGI_rs2960330 3.45e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 136267485 2960330 ENSSNP1527933 3.45e-01 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 137670406 2960330 ENSSNP11444340 3.45e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 168183515 2960330 NA07022_36_chr19_43690782 3.45e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 169708020 2960330 NA19240_36_chr19_43690782 3.45e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 203750992 2960330 BUSHMAN-chr19-43690781 3.45e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 255668715 2960330 SNP49689_19_43690782 3.45e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 283206028 2960330 GMI_AK_SNP_7526449 3.45e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 292248523 2960330 SNP_1754881_chr19_43690782 3.45e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38998942T>C;NG_008866.1:g.79603T>C;NM_000540.2:c.8932+475T>C;NM_001042723.1:c.8932+475T>C 340454638 2960330 20100804_snps_12098179_chr19_38998942 3.45e-01 2011.03.22 2011.03.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999004G>A;NG_008866.1:g.79665G>A;NM_000540.2:c.8932+537G>A;NM_001042723.1:c.8932+537G>A 243881023 116943667 pilot_1_CHB+JPT_5766100_chr19_43690844 2.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38999045G>A;NG_008866.1:g.79706G>A;NM_000540.2:c.8932+578G>A;NM_001042723.1:c.8932+578G>A 168183525 112205479 NA07022_36_chr19_43690885 7.55e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.38999045G>A;NG_008866.1:g.79706G>A;NM_000540.2:c.8932+578G>A;NM_001042723.1:c.8932+578G>A 255668721 112205479 SNP49690_19_43690885 7.55e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.38999045G>A;NG_008866.1:g.79706G>A;NM_000540.2:c.8932+578G>A;NM_001042723.1:c.8932+578G>A 283206029 112205479 GMI_AK_SNP_7526450 7.55e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999045G>A;NG_008866.1:g.79706G>A;NM_000540.2:c.8932+578G>A;NM_001042723.1:c.8932+578G>A 340454639 112205479 20100804_snps_12098180_chr19_38999045 7.55e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.38999045G>A;NG_008866.1:g.79706G>A;NM_000540.2:c.8932+578G>A;NM_001042723.1:c.8932+578G>A 469257092 112205479 Chromosome19_43690885 7.55e-02 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.38999060G>T;NG_008866.1:g.79721G>T;NM_000540.2:c.8932+593G>T;NM_001042723.1:c.8932+593G>T 255668726 149839998 SNP49691_19_43690900 4.49e-02 2010.08.20 2010.08.20 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38999060G>T;NG_008866.1:g.79721G>T;NM_000540.2:c.8932+593G>T;NM_001042723.1:c.8932+593G>T 340454640 149839998 20100804_snps_12098181_chr19_38999060 4.49e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38999077C>T;NG_008866.1:g.79738C>T;NM_000540.2:c.8932+610C>T;NM_001042723.1:c.8932+610C>T 465586868 193170549 20101123_snps_11754098_chr19_38999077 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38999102C>T;NG_008866.1:g.79763C>T;NM_000540.2:c.8932+635C>T;NM_001042723.1:c.8932+635C>T 465586869 184641728 20101123_snps_11754099_chr19_38999102 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.38999103G>A;NG_008866.1:g.79764G>A;NM_000540.2:c.8932+636G>A;NM_001042723.1:c.8932+636G>A 465586870 188279942 20101123_snps_11754100_chr19_38999103 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.38999220A>G;NG_008866.1:g.79881A>G;NM_000540.2:c.8932+753A>G;NM_001042723.1:c.8932+753A>G 203750993 113017076 BUSHMAN-chr19-43691059 3.16e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999220A>G;NG_008866.1:g.79881A>G;NM_000540.2:c.8932+753A>G;NM_001042723.1:c.8932+753A>G 228135824 113017076 pilot_1_YRI_9945507_chr19_43691060 3.16e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 4171563 2960331 AC091486.2_48726 3.51e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 40983301 2960331 hCV7821604 3.51e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 83943167 2960331 Cor18555_SNV_20070510.chr19_43691071 3.51e-01 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 90969956 2960331 JWB-1168210 3.51e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 96305701 2960331 1103691141857 3.51e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 103437765 2960331 BGI_rs2960331 3.51e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 111365823 2960331 CEU.trio.12.15.2008_3616664_chr19_43691071 3.51e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 115120665 2960331 NA19240_2008_12_16_3257622_chr19_43691071 3.51e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 117702649 2960331 NA18507_000043915_NCBI36.1_chr19_43691071 3.51e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 136267482 2960331 ENSSNP1527934 3.51e-01 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 137670408 2960331 ENSSNP6822514 3.51e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 168183538 2960331 NA07022_36_chr19_43691071 3.51e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 169708037 2960331 NA19240_36_chr19_43691071 3.51e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 203750994 2960331 BUSHMAN-chr19-43691070 3.51e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 208456756 2960331 BCM_CMT_1011-3109751 3.51e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 228135825 2960331 pilot_1_YRI_9945508_chr19_43691071 3.51e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 237674248 2960331 pilot_1_CEU_7278877_chr19_43691071 3.51e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 243881024 2960331 pilot_1_CHB+JPT_5766101_chr19_43691071 3.51e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 255668732 2960331 SNP49692_19_43691071 3.51e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 283206030 2960331 GMI_AK_SNP_7526451 3.51e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.38999231C>A;NG_008866.1:g.79892C>A;NM_000540.2:c.8932+764C>A;NM_001042723.1:c.8932+764C>A 292248524 2960331 SNP_1754882_chr19_43691071 3.51e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.38999356C>T;NG_008866.1:g.80017C>T;NM_000540.2:c.8932+889C>T;NM_001042723.1:c.8932+889C>T 283206031 191131394 GMI_AK_SNP_7526452 1.80e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999356C>T;NG_008866.1:g.80017C>T;NM_000540.2:c.8932+889C>T;NM_001042723.1:c.8932+889C>T 465586871 191131394 20101123_snps_11754101_chr19_38999356 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999659C>T;NG_008866.1:g.80320C>T;NM_000540.2:c.8932+1192C>T;NM_001042723.1:c.8932+1192C>T 228135826 77100851 pilot_1_YRI_9945509_chr19_43691499 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ABI 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 41006304 35260785 hCV32823882 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 95728339 35260785 1104685411605 2008.03.23 2008.12.03 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 100812328 35260785 INDEL_GP36_2008a_1719894_0 2008.05.17 2008.05.17 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 100812331 35260785 INDEL_GP36_2008a_1719894_1 2008.05.17 2008.05.17 2006.03.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 193510350 35260785 BUSHMAN-chr19-43691529-43691530 2010.02.16 2010.02.16 2006.03.15 2012.11.28 137 BL 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 256205649 35260785 SNP3818_19_43691529 2010.08.20 2010.08.20 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 289387906 35260785 GMI_AK_INDEL_1065363 2010.12.30 2011.12.30 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 294962540 35260785 DIP_400244_chr19_43691530 2011.01.22 2011.01.22 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 294962541 35260785 DIP_400245_chr19_43691537 2011.01.22 2011.01.22 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 327903800 35260785 JPTCHB_chr19_43691529_indel 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 328032218 35260785 CEU_chr19_43691529_indel 2011.03.13 2011.04.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.38999690delC;NG_008866.1:g.80351delC;NM_000540.2:c.8932+1223delC;NM_001042723.1:c.8932+1223delC 328276244 35260785 YRI_chr19_43691529_indel 2011.03.13 2011.04.04 2006.03.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.38999738C>A;NG_008866.1:g.80399C>A;NM_000540.2:c.8932+1271C>A;NM_001042723.1:c.8932+1271C>A 137670411 79758312 ENSSNP11444342 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.38999850_38999851delCA;NG_008866.1:g.80511_80512delCA;NM_000540.2:c.8933-1288_8933-1287delCA;NM_001042723.1:c.8933-1288_8933-1287delCA 328276245 149657536 YRI_chr19_43691689_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.39000087A>T;NG_008866.1:g.80748A>T;NM_000540.2:c.8933-1051A>T;NM_001042723.1:c.8933-1051A>T 255668736 138195690 SNP49693_19_43691927 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.39000087A>T;NG_008866.1:g.80748A>T;NM_000540.2:c.8933-1051A>T;NM_001042723.1:c.8933-1051A>T 283206032 138195690 GMI_AK_SNP_7526453 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 14704565 10410603 chr19.NT_011109.15_11268308 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 16802296 10410603 CSHL-HuAA-200402.chr19.NT_011109.15_11268308 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 77592350 10410603 Cor12156_SNV_20070510.chr19_43691930 2007.10.13 2007.10.13 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000090delA;NC_000019.9:g.39000090delAinsATTA;NG_008866.1:g.80751delA;NG_008866.1:g.80751delAinsATTA;NM_000540.2:c.8933-1048delA;NM_000540.2:c.8933-1048delAinsATTA;NM_001042723.1:c.8933-1048delA;NM_001042723.1:c.8933-1048delAinsATTA 82038378 59610041 Cor18555_DIV_20070510.chr19_43691926-43691931_1 2007.12.02 2007.12.02 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.39000090delA;NC_000019.9:g.39000090delAinsATTA;NG_008866.1:g.80751delA;NG_008866.1:g.80751delAinsATTA;NM_000540.2:c.8933-1048delA;NM_000540.2:c.8933-1048delAinsATTA;NM_001042723.1:c.8933-1048delA;NM_001042723.1:c.8933-1048delAinsATTA 82051318 59610041 Cor18555_DIV_20070510.chr19_43691926-43691931_2 2007.12.02 2007.12.02 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.39000090delA;NC_000019.9:g.39000090delAinsATTA;NG_008866.1:g.80751delA;NG_008866.1:g.80751delAinsATTA;NM_000540.2:c.8933-1048delA;NM_000540.2:c.8933-1048delAinsATTA;NM_001042723.1:c.8933-1048delA;NM_001042723.1:c.8933-1048delAinsATTA 82165664 59610041 Cor19129_DIV_20070510.chr19_43691926-43691931_1 2007.12.02 2007.12.02 2007.12.15 2011.07.08 137 BGI 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 103437766 10410603 BGI_rs10410603 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 117702652 10410603 NA18507_000043916_NCBI36.1_chr19_43691930 2009.01.20 2009.01.20 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 161878503 10410603 ENSSNP1527935 2009.09.26 2009.09.26 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 255668741 10410603 SNP49694_19_43691930 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39000090A>T;NG_008866.1:g.80751A>T;NM_000540.2:c.8933-1048A>T;NM_001042723.1:c.8933-1048A>T 283206033 10410603 GMI_AK_SNP_7526454 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39000091delT;NC_000019.9:g.39000091delTinsTTTT;NG_008866.1:g.80752delT;NG_008866.1:g.80752delTinsTTTT;NM_000540.2:c.8933-1047delT;NM_000540.2:c.8933-1047delTinsTTTT;NM_001042723.1:c.8933-1047delT;NM_001042723.1:c.8933-1047delTinsTTTT 101164319 66487663 INDEL_GP36_2008a_2823685_0 2008.05.17 2008.05.17 2009.02.03 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39000091delT;NC_000019.9:g.39000091delTinsTTTT;NG_008866.1:g.80752delT;NG_008866.1:g.80752delTinsTTTT;NM_000540.2:c.8933-1047delT;NM_000540.2:c.8933-1047delTinsTTTT;NM_001042723.1:c.8933-1047delT;NM_001042723.1:c.8933-1047delTinsTTTT 101814212 66487663 INDEL_GP36_2008a_2632077_0 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39000091delT;NC_000019.9:g.39000091delTinsTTTT;NG_008866.1:g.80752delT;NG_008866.1:g.80752delTinsTTTT;NM_000540.2:c.8933-1047delT;NM_000540.2:c.8933-1047delTinsTTTT;NM_001042723.1:c.8933-1047delT;NM_001042723.1:c.8933-1047delTinsTTTT 101814215 66487663 INDEL_GP36_2008a_2632077_1 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 GMI 6261 NC_000019.9:g.39000093T>A;NG_008866.1:g.80754T>A;NM_000540.2:c.8933-1045T>A;NM_001042723.1:c.8933-1045T>A 283206034 199910838 GMI_AK_SNP_7526455 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39000094_39000095insA;NG_008866.1:g.80755_80756insA;NM_000540.2:c.8933-1044_8933-1043insA;NM_001042723.1:c.8933-1044_8933-1043insA 499576369 200370774 20110316_indels_chr19_39000094_39000095 1.14e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000124G>C;NG_008866.1:g.80785G>C;NM_000540.2:c.8933-1014G>C;NM_001042723.1:c.8933-1014G>C 465586872 183598310 20101123_snps_11754102_chr19_39000124 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39000146G>T;NG_008866.1:g.80807G>T;NM_000540.2:c.8933-992G>T;NM_001042723.1:c.8933-992G>T 465586873 188350035 20101123_snps_11754103_chr19_39000146 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39000154G>A;NG_008866.1:g.80815G>A;NM_000540.2:c.8933-984G>A;NM_001042723.1:c.8933-984G>A 96305702 71356809 1103691141859 2.98e-02 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39000154G>A;NG_008866.1:g.80815G>A;NM_000540.2:c.8933-984G>A;NM_001042723.1:c.8933-984G>A 133799242 71356809 ENSSNP7470966 2.98e-02 2009.05.12 2009.10.14 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39000154G>A;NG_008866.1:g.80815G>A;NM_000540.2:c.8933-984G>A;NM_001042723.1:c.8933-984G>A 340454641 71356809 20100804_snps_12098182_chr19_39000154 2.98e-02 2011.03.22 2011.03.22 2009.02.13 2011.09.09 137 HGSV 6261 NC_000019.9:g.39000210G>C;NG_008866.1:g.80871G>C;NM_000540.2:c.8933-928G>C;NM_001042723.1:c.8933-928G>C 86093595 60874183 Cor18956_SNV_20070510.chr19_43692050 2007.12.11 2007.12.11 2007.12.16 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 4171564 2960332 AC091486.2_49705 3.53e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 41010505 2960332 hCV7821595 3.53e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 81398271 2960332 Cor18507_SNV_20070510.chr19_43692056 3.53e-01 2007.11.29 2007.11.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 85118860 2960332 Cor19129_SNV_20070510.chr19_43692056 3.53e-01 2007.12.08 2007.12.08 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 96305703 2960332 1103691141861 3.53e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 142698985 2960332 ENSSNP9125107 3.53e-01 2009.06.05 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 168183550 2960332 NA07022_36_chr19_43692056 3.53e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 169708057 2960332 NA19240_36_chr19_43692056 3.53e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 203750995 2960332 BUSHMAN-chr19-43692055 3.53e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 255668745 2960332 SNP49695_19_43692056 3.53e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 283206035 2960332 GMI_AK_SNP_7526456 3.53e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 292248525 2960332 SNP_1754883_chr19_43692056 3.53e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000216C>T;NG_008866.1:g.80877C>T;NM_000540.2:c.8933-922C>T;NM_001042723.1:c.8933-922C>T 340454642 2960332 20100804_snps_12098183_chr19_39000216 3.53e-01 2011.03.22 2011.03.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000236C>T;NG_008866.1:g.80897C>T;NM_000540.2:c.8933-902C>T;NM_001042723.1:c.8933-902C>T 340454643 147003005 20100804_snps_12098184_chr19_39000236 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39000252C>T;NG_008866.1:g.80913C>T;NM_000540.2:c.8933-886C>T;NM_001042723.1:c.8933-886C>T 340454644 147985936 20100804_snps_12098185_chr19_39000252 3.66e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39000253G>A;NG_008866.1:g.80914G>A;NM_000540.2:c.8933-885G>A;NM_001042723.1:c.8933-885G>A 340454645 141608654 20100804_snps_12098186_chr19_39000253 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39000279A>C;NG_008866.1:g.80940A>C;NM_000540.2:c.8933-859A>C;NM_001042723.1:c.8933-859A>C 465586874 181821237 20101123_snps_11754104_chr19_39000279 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39000333G>A;NG_008866.1:g.80994G>A;NM_000540.2:c.8933-805G>A;NM_001042723.1:c.8933-805G>A 340454646 150115670 20100804_snps_12098187_chr19_39000333 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39000344G>C;NG_008866.1:g.81005G>C;NM_000540.2:c.8933-794G>C;NM_001042723.1:c.8933-794G>C 208561377 112021900 BCM_CMT_1011-3145129 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 4171565 2960333 AC091486.2_50029 3.51e-01 2001.10.15 2008.03.31 2001.11.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 14830294 2960333 NT_011109.15_11268758 3.51e-01 2003.11.12 2003.11.22 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 46554760 2960333 PS03509147 3.51e-01 2005.08.01 2005.08.01 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 66159500 2960333 SNP_A-2160078 3.51e-01 2006.10.27 2008.03.31 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 69228170 2960333 PGP03509147 3.51e-01 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 76200065 2960333 AFFY_6_1M_SNP_A-2160078 3.51e-01 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 80272220 2960333 Cor18507_SNV_20070510.chr19_43692380 3.51e-01 2007.11.25 2007.11.25 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 81916953 2960333 KHS160338 3.51e-01 2007.12.01 2007.12.01 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 90969958 2960333 JWB-1168211 3.51e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 96305704 2960333 1103691141860 3.51e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 103437767 2960333 BGI_rs2960333 3.51e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 111365831 2960333 CEU.trio.12.15.2008_3616665_chr19_43692380 3.51e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 115120674 2960333 NA19240_2008_12_16_3257623_chr19_43692380 3.51e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 117702654 2960333 NA18507_000043917_NCBI36.1_chr19_43692380 3.51e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 137670414 2960333 ENSSNP6091056 3.51e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 139643028 2960333 ENSSNP3518844 3.51e-01 2009.05.19 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 168183565 2960333 NA07022_36_chr19_43692380 3.51e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 169708078 2960333 NA19240_36_chr19_43692380 3.51e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 172786917 2960333 GenomeWideSNP_5_SNP_A-2160078 3.51e-01 2009.10.02 2009.10.02 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 203750996 2960333 BUSHMAN-chr19-43692379 3.51e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 208410691 2960333 BCM_CMT_1011-3094470 3.51e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 228135827 2960333 pilot_1_YRI_9945510_chr19_43692380 3.51e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 237674249 2960333 pilot_1_CEU_7278878_chr19_43692380 3.51e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 243881025 2960333 pilot_1_CHB+JPT_5766102_chr19_43692380 3.51e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 255668750 2960333 SNP49696_19_43692380 3.51e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 283206036 2960333 GMI_AK_SNP_7526457 3.51e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39000540C>T;NG_008866.1:g.81201C>T;NM_000540.2:c.8933-598C>T;NM_001042723.1:c.8933-598C>T 292248526 2960333 SNP_1754884_chr19_43692380 3.51e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 4171566 2960334 AC091486.2_50051 3.52e-01 2001.10.15 2008.03.31 2001.11.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 14830295 2960334 NT_011109.15_11268780 3.52e-01 2003.11.12 2003.11.22 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 76511006 2960334 AFFY_6_1M_SNP_A-8372045 3.52e-01 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 78580143 2960334 Cor18507_SNV_20070510.chr19_43692402 3.52e-01 2007.10.20 2007.10.20 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 90969961 2960334 JWB-1168212 3.52e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 96305705 2960334 1103691141862 3.52e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 103437768 2960334 BGI_rs2960334 3.52e-01 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 104884438 2960334 KHS1276756 3.52e-01 2008.07.10 2008.07.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 111365839 2960334 CEU.trio.12.15.2008_3616666_chr19_43692402 3.52e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 115120682 2960334 NA19240_2008_12_16_3257624_chr19_43692402 3.52e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 117702656 2960334 NA18507_000043918_NCBI36.1_chr19_43692402 3.52e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 137670417 2960334 ENSSNP7287086 3.52e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 168183577 2960334 NA07022_36_chr19_43692402 3.52e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 169708100 2960334 NA19240_36_chr19_43692402 3.52e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 203750997 2960334 BUSHMAN-chr19-43692401 3.52e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 208438939 2960334 BCM_CMT_1011-3103806 3.52e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 228135828 2960334 pilot_1_YRI_9945511_chr19_43692402 3.52e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 237674250 2960334 pilot_1_CEU_7278879_chr19_43692402 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 243881026 2960334 pilot_1_CHB+JPT_5766103_chr19_43692402 3.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 255668756 2960334 SNP49697_19_43692402 3.52e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 283206037 2960334 GMI_AK_SNP_7526458 3.52e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39000562T>C;NG_008866.1:g.81223T>C;NM_000540.2:c.8933-576T>C;NM_001042723.1:c.8933-576T>C 292248527 2960334 SNP_1754885_chr19_43692402 3.52e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 14830260 10469270 NT_011109.15_11268794 7.88e-02 2003.11.12 2003.11.22 2003.12.05 2012.11.28 137 BGI 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 103437769 10469270 BGI_rs10469270 7.88e-02 2008.06.06 2009.06.17 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 168183590 10469270 NA07022_36_chr19_43692416 7.88e-02 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 228135829 10469270 pilot_1_YRI_9945512_chr19_43692416 7.88e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 237674251 10469270 pilot_1_CEU_7278880_chr19_43692416 7.88e-02 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 243881027 10469270 pilot_1_CHB+JPT_5766104_chr19_43692416 7.88e-02 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 255668762 10469270 SNP49698_19_43692416 7.88e-02 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39000576C>T;NG_008866.1:g.81237C>T;NM_000540.2:c.8933-562C>T;NM_001042723.1:c.8933-562C>T 283206038 10469270 GMI_AK_SNP_7526459 7.88e-02 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000586G>A;NG_008866.1:g.81247G>A;NM_000540.2:c.8933-552G>A;NM_001042723.1:c.8933-552G>A 340454647 138451462 20100804_snps_12098188_chr19_39000586 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39000620T>C;NG_008866.1:g.81281T>C;NM_000540.2:c.8933-518T>C;NM_001042723.1:c.8933-518T>C 465586875 185739968 20101123_snps_11754105_chr19_39000620 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39000710A>G;NG_008866.1:g.81371A>G;NM_000540.2:c.8933-428A>G;NM_001042723.1:c.8933-428A>G 465586876 189867175 20101123_snps_11754106_chr19_39000710 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39000825T>A;NG_008866.1:g.81486T>A;NM_000540.2:c.8933-313T>A;NM_001042723.1:c.8933-313T>A 111365847 73030997 CEU.trio.12.15.2008_3616667_chr19_43692665 6.82e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39000825T>A;NG_008866.1:g.81486T>A;NM_000540.2:c.8933-313T>A;NM_001042723.1:c.8933-313T>A 208507604 73030997 BCM_CMT_1011-3126979 6.82e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000825T>A;NG_008866.1:g.81486T>A;NM_000540.2:c.8933-313T>A;NM_001042723.1:c.8933-313T>A 237674252 73030997 pilot_1_CEU_7278881_chr19_43692665 6.82e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000825T>A;NG_008866.1:g.81486T>A;NM_000540.2:c.8933-313T>A;NM_001042723.1:c.8933-313T>A 243881028 73030997 pilot_1_CHB+JPT_5766105_chr19_43692665 6.82e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39000825T>A;NG_008866.1:g.81486T>A;NM_000540.2:c.8933-313T>A;NM_001042723.1:c.8933-313T>A 283206039 73030997 GMI_AK_SNP_7526460 6.82e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 BGI 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 103437770 80203847 BGI_YHSNP0125966 1.68e-01 2008.06.06 2009.06.17 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 168183603 80203847 NA07022_36_chr19_43692709 1.68e-01 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 208525848 80203847 BCM_CMT_1011-3133293 1.68e-01 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 255668767 80203847 SNP49699_19_43692709 1.68e-01 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 283206040 80203847 GMI_AK_SNP_7526461 1.68e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000869G>A;NG_008866.1:g.81530G>A;NM_000540.2:c.8933-269G>A;NM_001042723.1:c.8933-269G>A 340454648 80203847 20100804_snps_12098189_chr19_39000869 1.68e-01 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000944_39000945insG;NG_008866.1:g.81605_81606insG;NM_000540.2:c.8933-194_8933-193insG;NM_001042723.1:c.8933-194_8933-193insG 499576373 201987236 20110316_indels_chr19_39000944_39000945 1.81e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 83790079 58360688 Cor18555_SNV_20070510.chr19_43692786 2.08e-01 2007.12.05 2007.12.05 2007.12.15 2012.11.28 137 BGI 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 103437771 58360688 BGI_YHSNP0125967 2.08e-01 2008.06.06 2009.06.17 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 111365855 58360688 CEU.trio.12.15.2008_3616668_chr19_43692786 2.08e-01 2008.12.17 2008.12.17 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 117702658 58360688 NA18507_000043919_NCBI36.1_chr19_43692786 2.08e-01 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 168183616 58360688 NA07022_36_chr19_43692786 2.08e-01 2009.09.30 2009.09.30 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 228135830 58360688 pilot_1_YRI_9945513_chr19_43692786 2.08e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 237674253 58360688 pilot_1_CEU_7278882_chr19_43692786 2.08e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 243881029 58360688 pilot_1_CHB+JPT_5766106_chr19_43692786 2.08e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 BL 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 255668771 58360688 SNP49700_19_43692786 2.08e-01 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39000946A>G;NG_008866.1:g.81607A>G;NM_000540.2:c.8933-192A>G;NM_001042723.1:c.8933-192A>G 283206041 58360688 GMI_AK_SNP_7526462 2.08e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39001134A>G;NG_008866.1:g.81795A>G;NM_000540.2:c.8933-4A>G;NM_001042723.1:c.8933-4A>G 491766241 201613324 SNV-chr19-43692974 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001154T>C;NG_008866.1:g.81815T>C;NM_000540.2:c.8949T>C;NM_001042723.1:c.8949T>C;NP_000531.2:p.Ser2983=;NP_001036188.1:p.Ser2983= 228135831 116537677 pilot_1_YRI_9945514_chr19_43692994 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39001154T>C;NG_008866.1:g.81815T>C;NM_000540.2:c.8949T>C;NM_001042723.1:c.8949T>C;NP_000531.2:p.Ser2983=;NP_001036188.1:p.Ser2983= 342496585 116537677 ESP2500-chr19-39001154 2.30e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39001154T>C;NG_008866.1:g.81815T>C;NM_000540.2:c.8949T>C;NM_001042723.1:c.8949T>C;NP_000531.2:p.Ser2983=;NP_001036188.1:p.Ser2983= 482320179 116537677 HumanOmni2.5-4v1_D_kgp21352673-0_T_R_1844057649 2.30e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39001154T>C;NG_008866.1:g.81815T>C;NM_000540.2:c.8949T>C;NM_001042723.1:c.8949T>C;NP_000531.2:p.Ser2983=;NP_001036188.1:p.Ser2983= 483826010 116537677 HumanOmni2.5-4v1_B_SNP19-43692994-0_T_R_1647605332 2.30e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001154T>C;NG_008866.1:g.81815T>C;NM_000540.2:c.8949T>C;NM_001042723.1:c.8949T>C;NP_000531.2:p.Ser2983=;NP_001036188.1:p.Ser2983= 491158070 116537677 20110521_exome_665868_chr19_39001154 2.30e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39001206G>A;NG_008866.1:g.81867G>A;NM_000540.2:c.9000+1G>A;NM_001042723.1:c.9000+1G>A 169117233 111364670 Human1M-Duov3_B_GA034491-0_T_F_1533482019 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39001263C>G;NG_008866.1:g.81924C>G;NM_000540.2:c.9001-37C>G;NM_001042723.1:c.9001-37C>G 465586877 181929261 20101123_snps_11754107_chr19_39001263 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001263C>G;NG_008866.1:g.81924C>G;NM_000540.2:c.9001-37C>G;NM_001042723.1:c.9001-37C>G 491158071 181929261 20110521_exome_665869_chr19_39001263 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39001362G>A;NG_008866.1:g.82023G>A;NM_000540.2:c.9063G>A;NM_001042723.1:c.9063G>A;NP_000531.2:p.Pro3021=;NP_001036188.1:p.Pro3021= 491766242 200068725 SNV-chr19-43693202 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39001392C>T;NG_008866.1:g.82053C>T;NM_000540.2:c.9093C>T;NM_001042723.1:c.9093C>T;NP_000531.2:p.Ala3031=;NP_001036188.1:p.Ala3031= 342496586 140197877 ESP2500-chr19-39001392 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39001395T>A;NG_008866.1:g.82056T>A;NM_000540.2:c.9096T>A;NM_001042723.1:c.9096T>A;NP_000531.2:p.Ser3032=;NP_001036188.1:p.Ser3032= 342496587 144067910 ESP2500-chr19-39001395 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39001422G>C;NG_008866.1:g.82083G>C;NM_000540.2:c.9122+1G>C;NM_001042723.1:c.9122+1G>C 169117245 111522846 Human1M-Duov3_B_GA034492-0_B_F_1533481890 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39001428C>T;NG_008866.1:g.82089C>T;NM_000540.2:c.9122+7C>T;NM_001042723.1:c.9122+7C>T 489164553 199667629 20110521_exome_255666_chr19_39001428 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001580A>G;NG_008866.1:g.82241A>G;NM_000540.2:c.9122+159A>G;NM_001042723.1:c.9122+159A>G 228135832 116008893 pilot_1_YRI_9945515_chr19_43693420 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39001585T>C;NG_008866.1:g.82246T>C;NM_000540.2:c.9122+164T>C;NM_001042723.1:c.9122+164T>C 228135833 114649950 pilot_1_YRI_9945516_chr19_43693425 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39001661C>T;NG_008866.1:g.82322C>T;NM_000540.2:c.9122+240C>T;NM_001042723.1:c.9122+240C>T 203750998 112632139 BUSHMAN-chr19-43693500 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39001669C>T;NG_008866.1:g.82330C>T;NM_000540.2:c.9122+248C>T;NM_001042723.1:c.9122+248C>T 340454650 140113890 20100804_snps_12098191_chr19_39001669 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39001704G>T;NG_008866.1:g.82365G>T;NM_000540.2:c.9122+283G>T;NM_001042723.1:c.9122+283G>T 340454651 142259840 20100804_snps_12098192_chr19_39001704 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39001750A>G;NG_008866.1:g.82411A>G;NM_000540.2:c.9122+329A>G;NM_001042723.1:c.9122+329A>G 237674254 117201461 pilot_1_CEU_7278883_chr19_43693590 4.49e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BL 6261 NC_000019.9:g.39001750A>G;NG_008866.1:g.82411A>G;NM_000540.2:c.9122+329A>G;NM_001042723.1:c.9122+329A>G 255668775 117201461 SNP49701_19_43693590 4.49e-02 2010.08.20 2010.08.20 2010.07.15 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 4171567 2960335 AC091486.2_51330 1.49e-01 2001.10.15 2003.10.10 2001.11.05 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 90969965 2960335 JWB-1168213 1.49e-01 2008.03.01 2008.03.01 2001.11.05 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 96305706 2960335 1103691141863 1.49e-01 2008.03.26 2008.03.26 2001.11.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 169708112 2960335 NA19240_36_chr19_43693681 1.49e-01 2009.10.01 2009.10.01 2001.11.05 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 203750999 2960335 BUSHMAN-chr19-43693680 1.49e-01 2010.03.09 2010.03.09 2001.11.05 2011.09.09 137 BL 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 255668782 2960335 SNP49702_19_43693681 1.49e-01 2010.08.20 2010.08.20 2001.11.05 2011.09.09 137 PJP 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 292248528 2960335 SNP_1754886_chr19_43693681 1.49e-01 2011.01.21 2011.01.21 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39001841C>T;NG_008866.1:g.82502C>T;NM_000540.2:c.9123-360C>T;NM_001042723.1:c.9123-360C>T 340454652 2960335 20100804_snps_12098193_chr19_39001841 1.49e-01 2011.03.22 2011.03.22 2001.11.05 2011.09.09 137 BGI 6261 NC_000019.9:g.39001899G>C;NG_008866.1:g.82560G>C;NM_000540.2:c.9123-302G>C;NM_001042723.1:c.9123-302G>C 103437772 79974109 BGI_YHSNP0125968 7.88e-02 2008.06.06 2009.06.17 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39001899G>C;NG_008866.1:g.82560G>C;NM_000540.2:c.9123-302G>C;NM_001042723.1:c.9123-302G>C 168183625 79974109 NA07022_36_chr19_43693739 7.88e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.39001899G>C;NG_008866.1:g.82560G>C;NM_000540.2:c.9123-302G>C;NM_001042723.1:c.9123-302G>C 255668786 79974109 SNP49703_19_43693739 7.88e-02 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39001899G>C;NG_008866.1:g.82560G>C;NM_000540.2:c.9123-302G>C;NM_001042723.1:c.9123-302G>C 283206042 79974109 GMI_AK_SNP_7526463 7.88e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001899G>C;NG_008866.1:g.82560G>C;NM_000540.2:c.9123-302G>C;NM_001042723.1:c.9123-302G>C 340454653 79974109 20100804_snps_12098194_chr19_39001899 7.88e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39001929C>T;NG_008866.1:g.82590C>T;NM_000540.2:c.9123-272C>T;NM_001042723.1:c.9123-272C>T 340454654 142792817 20100804_snps_12098195_chr19_39001929 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39002032C>G;NG_008866.1:g.82693C>G;NM_000540.2:c.9123-169C>G;NM_001042723.1:c.9123-169C>G 340454655 151073874 20100804_snps_12098196_chr19_39002032 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39002084T>A;NG_008866.1:g.82745T>A;NM_000540.2:c.9123-117T>A;NM_001042723.1:c.9123-117T>A 340454656 140799636 20100804_snps_12098197_chr19_39002084 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39002098T>G;NG_008866.1:g.82759T>G;NM_000540.2:c.9123-103T>G;NM_001042723.1:c.9123-103T>G 161878505 75561189 ENSSNP1527937 2009.09.26 2009.09.26 2009.12.01 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 4171568 2960336 AC091486.2_51629 1.04e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 44191146 2960336 hCV7821587 1.04e-01 germline untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 67285281 2960336 HumanHap550v1.1_rs2960336 1.04e-01 germline untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 67688009 2960336 HumanHap650Yv1.0_rs2960336 1.04e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 68215932 2960336 HumanHap250Sv1.0_rs2960336 1.04e-01 germline untested 2006.12.06 2006.12.07 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 70763816 2960336 HumanHap550v3.0__rs2960336 1.04e-01 unknown untested 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 71338093 2960336 HumanHap650Yv3.0_rs2960336 1.04e-01 germline untested 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 75633866 2960336 ILMN_Human_1M_rs2960336 1.04e-01 germline untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 84130619 2960336 KHS641903 1.04e-01 germline untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 90969967 2960336 JWB-1168214 1.04e-01 unknown untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 96305707 2960336 1103691141864 1.04e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 115120686 2960336 NA19240_2008_12_16_3257625_chr19_43693980 1.04e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 137670424 2960336 ENSSNP6308830 1.04e-01 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 154248460 2960336 Human610_Quadv1_B_rs2960336-126_B_F_1502202683 1.04e-01 germline untested 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 159425365 2960336 Human660W-Quad_v1_A_rs2960336-126_B_F_1502202683 1.04e-01 germline untested 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 169708135 2960336 NA19240_36_chr19_43693980 1.04e-01 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 173541108 2960336 Human1M-Duov3_B_rs2960336-126_B_F_1502202683 1.04e-01 germline untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 203751000 2960336 BUSHMAN-chr19-43693979 1.04e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 228135834 2960336 pilot_1_YRI_9945517_chr19_43693980 1.04e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 237674255 2960336 pilot_1_CEU_7278884_chr19_43693980 1.04e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 243881030 2960336 pilot_1_CHB+JPT_5766107_chr19_43693980 1.04e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 292248529 2960336 SNP_1754887_chr19_43693980 1.04e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9123-61C>T NC_000019.9:g.39002140C>T;NG_008866.1:g.82801C>T;NM_000540.2:c.9123-61C>T;NM_001042723.1:c.9123-61C>T 475871629 2960336 RYR1_00371 1.04e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002141G>T;NG_008866.1:g.82802G>T;NM_000540.2:c.9123-60G>T;NM_001042723.1:c.9123-60G>T 243881031 77550186 pilot_1_CHB+JPT_5766108_chr19_43693981 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39002141G>T;NG_008866.1:g.82802G>T;NM_000540.2:c.9123-60G>T;NM_001042723.1:c.9123-60G>T 283206043 77550186 GMI_AK_SNP_7526464 2.34e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002176C>T;NG_008866.1:g.82837C>T;NM_000540.2:c.9123-25C>T;NM_001042723.1:c.9123-25C>T 489164555 201912985 20110521_exome_255667_chr19_39002176 1.80e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39002176C>T;NG_008866.1:g.82837C>T;NM_000540.2:c.9123-25C>T;NM_001042723.1:c.9123-25C>T 491766243 201912985 SNV-chr19-43694016 1.80e-03 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002226G>A;NG_008866.1:g.82887G>A;NM_000540.2:c.9148G>A;NM_001042723.1:c.9148G>A;NP_000531.2:p.Val3050Ile;NP_001036188.1:p.Val3050Ile 489164557 200797340 20110521_exome_255668_chr19_39002226 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39002226G>A;NG_008866.1:g.82887G>A;NM_000540.2:c.9148G>A;NM_001042723.1:c.9148G>A;NP_000531.2:p.Val3050Ile;NP_001036188.1:p.Val3050Ile 491546483 200797340 nonsyn_262709_chr_19_39002226 9.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39002230G>A;NG_008866.1:g.82891G>A;NM_000540.2:c.9152G>A;NM_001042723.1:c.9152G>A;NP_000531.2:p.Arg3051His;NP_001036188.1:p.Arg3051His 342496588 147303895 ESP2500-chr19-39002230 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39002230G>A;NG_008866.1:g.82891G>A;NM_000540.2:c.9152G>A;NM_001042723.1:c.9152G>A;NP_000531.2:p.Arg3051His;NP_001036188.1:p.Arg3051His 491546484 147303895 nonsyn_262710_chr_19_39002230 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002232C>T;NG_008866.1:g.82893C>T;NM_000540.2:c.9154C>T;NM_001042723.1:c.9154C>T;NP_000531.2:p.His3052Tyr;NP_001036188.1:p.His3052Tyr 489164559 200149784 20110521_exome_255669_chr19_39002232 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002279T>C;NG_008866.1:g.82940T>C;NM_000540.2:c.9172+29T>C;NM_001042723.1:c.9172+29T>C 203751001 112810302 BUSHMAN-chr19-43694118 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39002496C>T;NG_008866.1:g.83157C>T;NM_000540.2:c.9173-216C>T;NM_001042723.1:c.9173-216C>T 340454657 144441677 20100804_snps_12098198_chr19_39002496 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39002558C>T;NG_008866.1:g.83219C>T;NM_000540.2:c.9173-154C>T;NM_001042723.1:c.9173-154C>T 22971300 13313718 BCM_HTWB_SNPS_200403.chr19.NT_011109.15_11270776 7.30e-03 2004.03.22 2004.03.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002558C>T;NG_008866.1:g.83219C>T;NM_000540.2:c.9173-154C>T;NM_001042723.1:c.9173-154C>T 340454658 13313718 20100804_snps_12098199_chr19_39002558 7.30e-03 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39002605G>T;NG_008866.1:g.83266G>T;NM_000540.2:c.9173-107G>T;NM_001042723.1:c.9173-107G>T 20064481 12609175 CSHL-HuFF-200402.chr19.NT_011109.15_11270823 2004.02.22 2004.03.04 2004.02.28 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 4171569 2960337 AC091486.2_52103 2.17e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 4931877 2960337 IMS-JST097356 2.17e-01 germline untested 2002.08.01 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 21510510 2960337 WGSA-200403-chr19.chr19.NT_011109.15_11270832 2.17e-01 germline untested 2004.03.20 2006.10.26 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 23763188 2960337 afd3509148 2.17e-01 germline untested 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 44172943 2960337 hCV7821586 2.17e-01 germline untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 67285282 2960337 HumanHap550v1.1_rs2960337 2.17e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 67688010 2960337 HumanHap650Yv1.0_rs2960337 2.17e-01 germline untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 68215933 2960337 HumanHap250Sv1.0_rs2960337 2.17e-01 germline untested 2006.12.06 2006.12.07 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 69228171 2960337 PGP03509148 2.17e-01 germline untested 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 70763817 2960337 HumanHap550v3.0__rs2960337 2.17e-01 unknown untested 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 71338094 2960337 HumanHap650Yv3.0_rs2960337 2.17e-01 unknown untested 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 75719099 2960337 ILMN_Human_1M_rs2960337 2.17e-01 unknown untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 84130623 2960337 KHS641904 2.17e-01 unknown untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 96305708 2960337 1103691141866 2.17e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 111365863 2960337 CEU.trio.12.15.2008_3616669_chr19_43694454 2.17e-01 germline untested 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 115120692 2960337 NA19240_2008_12_16_3257626_chr19_43694454 2.17e-01 unknown untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 136267480 2960337 ENSSNP1527938 2.17e-01 germline untested 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 137670427 2960337 ENSSNP11444347 2.17e-01 unknown untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 154248461 2960337 Human610_Quadv1_B_rs2960337-126_T_R_1502202544 2.17e-01 unknown untested 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 159425366 2960337 Human660W-Quad_v1_A_rs2960337-126_T_R_1502202544 2.17e-01 germline untested 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 160602207 2960337 HumanOmni1-Quad_v1-0_B_rs2960337-126_T_R_1501487985 2.17e-01 unknown untested 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 169708150 2960337 NA19240_36_chr19_43694454 2.17e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 173541109 2960337 Human1M-Duov3_B_rs2960337-126_T_R_1502202544 2.17e-01 unknown untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 203751002 2960337 BUSHMAN-chr19-43694453 2.17e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 208450473 2960337 BCM_CMT_1011-3107606 2.17e-01 germline untested 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 228135835 2960337 pilot_1_YRI_9945518_chr19_43694454 2.17e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 237674256 2960337 pilot_1_CEU_7278885_chr19_43694454 2.17e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 243881032 2960337 pilot_1_CHB+JPT_5766109_chr19_43694454 2.17e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 255668790 2960337 SNP49704_19_43694454 2.17e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 283206044 2960337 GMI_AK_SNP_7526465 2.17e-01 unknown untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 292248530 2960337 SNP_1754888_chr19_43694454 2.17e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9173-98T>G NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 475871630 2960337 RYR1_00372 2.17e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 480727390 2960337 HumanOmni2.5-4v1_B_rs2960337-128_T_R_1782931927 2.17e-01 unknown untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 480743126 2960337 HumanOmniExpress-12v1_C_rs2960337-131_T_R_1857384114 2.17e-01 germline untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 481623307 2960337 HumanOmni1-Quad_v1-0_C_rs2960337-131_T_R_1865133436 2.17e-01 unknown untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002614T>G;NG_008866.1:g.83275T>G;NM_000540.2:c.9173-98T>G;NM_001042723.1:c.9173-98T>G 485158437 2960337 HumanOmni2.5-4v1_D_rs2960337-131_T_R_1857384114 2.17e-01 unknown untested 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002636G>A;NG_008866.1:g.83297G>A;NM_000540.2:c.9173-76G>A;NM_001042723.1:c.9173-76G>A 203751003 113584672 BUSHMAN-chr19-43694475 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 4171570 2960338 AC091486.2_52180 1.54e-01 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 21556662 2960338 WGSA-200403-chr19.chr19.NT_011109.15_11270909 1.54e-01 germline untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 44196828 2960338 hCV7821585 1.54e-01 germline untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 52076635 2960338 NT_011109.15_11270909 1.54e-01 unknown untested 2006.03.29 2008.03.31 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 69228172 2960338 PGP05525007 1.54e-01 unknown untested 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 75132330 2960338 ILMN_Human_1M_rs2960338 1.54e-01 unknown untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 90969969 2960338 JWB-1168215 1.54e-01 germline untested 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 96305709 2960338 1103691141867 1.54e-01 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 115120705 2960338 NA19240_2008_12_16_3257627_chr19_43694531 1.54e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 119451377 2960338 KHS1613624 1.54e-01 germline untested 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 137670429 2960338 ENSSNP11444348 1.54e-01 germline untested 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 160602208 2960338 HumanOmni1-Quad_v1-0_B_rs2960338-128_B_F_1561744692 1.54e-01 unknown untested 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 169708171 2960338 NA19240_36_chr19_43694531 1.54e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 173541111 2960338 Human1M-Duov3_B_rs2960338-126_B_F_1514100477 1.54e-01 unknown untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 203751004 2960338 BUSHMAN-chr19-43694530 1.54e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 228135836 2960338 pilot_1_YRI_9945519_chr19_43694531 1.54e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 237674257 2960338 pilot_1_CEU_7278886_chr19_43694531 1.54e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 255668797 2960338 SNP49705_19_43694531 1.54e-01 germline untested 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 292248531 2960338 SNP_1754889_chr19_43694531 1.54e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9173-21C>T NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 475871631 2960338 RYR1_00370 1.54e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 480727394 2960338 HumanOmni2.5-4v1_B_rs2960338-128_B_F_1773835513 1.54e-01 germline untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 480743130 2960338 HumanOmniExpress-12v1_C_rs2960338-131_B_F_1857995923 1.54e-01 unknown untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 481623311 2960338 HumanOmni1-Quad_v1-0_C_rs2960338-131_B_F_1865803136 1.54e-01 unknown untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 485158439 2960338 HumanOmni2.5-4v1_D_rs2960338-131_B_F_1857995923 1.54e-01 germline untested 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 491158072 2960338 20110521_exome_665870_chr19_39002691 1.54e-01 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39002691C>T;NG_008866.1:g.83352C>T;NM_000540.2:c.9173-21C>T;NM_001042723.1:c.9173-21C>T 491766244 2960338 SNV-chr19-43694531 1.54e-01 germline untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 2984584 2071089 IMS-JST006393 3.52e-01 germline untested 2001.05.24 2006.10.25 2001.06.15 2012.11.28 137 WIAF-CSNP 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 3172708 2071089 WIAF-12784 3.52e-01 germline untested 2001.06.19 2004.04.07 2001.06.15 2012.11.28 137 HGBASE 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 3186171 2071089 SNP000571755 3.52e-01 germline untested 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 4171571 2071089 AC091486.2_52214 3.52e-01 germline untested 2001.10.15 2006.10.25 2001.06.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 21556064 2071089 WGSA-200403-chr19.chr19.NT_011109.15_11270943 3.52e-01 germline untested 2004.03.20 2004.03.20 2001.06.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 23763193 2071089 afd3509149 3.52e-01 unknown untested 2004.08.20 2004.09.13 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 44191298 2071089 hCV7821578 3.52e-01 unknown untested 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 52073439 2071089 NT_011109.15_11270943 3.52e-01 germline untested 2006.03.29 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 75108246 2071089 ILMN_Human_1M_rs2071089 3.52e-01 germline untested 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 90969970 2071089 JWB-1168216 3.52e-01 germline untested 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 96305710 2071089 1103691141868 3.52e-01 unknown untested 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 103437773 2071089 BGI_rs2071089 3.52e-01 germline untested 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 115120708 2071089 NA19240_2008_12_16_3257628_chr19_43694565 3.52e-01 germline untested 2008.12.19 2008.12.19 2001.06.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 117702660 2071089 NA18507_000043920_NCBI36.1_chr19_43694565 3.52e-01 germline untested 2009.01.20 2009.01.20 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 119415229 2071089 KHS1577476 3.52e-01 germline untested 2009.02.04 2009.02.04 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 132762458 2071089 ENSSNP1527939 3.52e-01 germline untested 2009.05.12 2009.10.15 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 137670432 2071089 ENSSNP11444349 3.52e-01 germline untested 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 159739639 2071089 RYR1-43694565 3.52e-01 unknown untested 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 160497765 2071089 HumanOmni1-Quad_v1-0_B_rs2071089-128_B_R_1514077639 3.52e-01 germline untested 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 168183638 2071089 NA07022_36_chr19_43694565 3.52e-01 germline untested 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 169708198 2071089 NA19240_36_chr19_43694565 3.52e-01 germline untested 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 173095687 2071089 Human1M-Duov3_B_rs2071089-128_B_R_1514077639 3.52e-01 unknown untested 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 203751005 2071089 BUSHMAN-chr19-43694564 3.52e-01 germline untested 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 208507826 2071089 BCM_CMT_1011-3127056 3.52e-01 unknown untested 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 210946314 2071089 CEU.trio.3.2010_162544_chr19_43694565 3.52e-01 germline untested 2010.03.29 2010.03.29 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 228135837 2071089 pilot_1_YRI_9945520_chr19_43694565 3.52e-01 unknown untested 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 237674258 2071089 pilot_1_CEU_7278887_chr19_43694565 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 243881033 2071089 pilot_1_CHB+JPT_5766110_chr19_43694565 3.52e-01 germline untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 255668800 2071089 SNP49706_19_43694565 3.52e-01 germline untested 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 283206045 2071089 GMI_AK_SNP_7526466 3.52e-01 unknown untested 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 292248532 2071089 SNP_1754890_chr19_43694565 3.52e-01 unknown untested 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 342496589 2071089 ESP2500-chr19-39002725 3.52e-01 germline untested 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9186A>G NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 475871632 2071089 RYR1_00062 3.52e-01 unknown untested 2011.11.25 2011.11.25 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 480410024 2071089 HumanOmni2.5-4v1_B_rs2071089-128_B_R_1782897911 3.52e-01 unknown untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 480423334 2071089 HumanOmniExpress-12v1_C_rs2071089-131_B_R_1857106090 3.52e-01 germline untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 481205728 2071089 HumanOmni1-Quad_v1-0_C_rs2071089-131_B_R_1865393112 3.52e-01 germline untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 485002551 2071089 HumanOmni2.5-4v1_D_rs2071089-131_B_R_1857106090 3.52e-01 germline untested 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 491158073 2071089 20110521_exome_665871_chr19_39002725 3.52e-01 germline untested 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39002725A>G;NG_008866.1:g.83386A>G;NM_000540.2:c.9186A>G;NM_001042723.1:c.9186A>G;NP_000531.2:p.Pro3062=;NP_001036188.1:p.Pro3062= 491766245 2071089 SNV-chr19-43694565 3.52e-01 germline untested 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002737C>G;NG_008866.1:g.83398C>G;NM_000540.2:c.9198C>G;NM_001042723.1:c.9198C>G;NP_000531.2:p.Asn3066Lys;NP_001036188.1:p.Asn3066Lys 489164561 201863144 20110521_exome_255670_chr19_39002737 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39002793G>A;NG_008866.1:g.83454G>A;NM_000540.2:c.9233+21G>A;NM_001042723.1:c.9233+21G>A 203751006 112213738 BUSHMAN-chr19-43694632 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39002811C>T;NG_008866.1:g.83472C>T;NM_000540.2:c.9233+39C>T;NM_001042723.1:c.9233+39C>T 489164563 200783640 20110521_exome_255671_chr19_39002811 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002872G>A;NG_008866.1:g.83533G>A;NM_000540.2:c.9234-13G>A;NM_001042723.1:c.9234-13G>A 340454659 141299670 20100804_snps_12098200_chr19_39002872 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002872G>A;NG_008866.1:g.83533G>A;NM_000540.2:c.9234-13G>A;NM_001042723.1:c.9234-13G>A 491158074 141299670 20110521_exome_665872_chr19_39002872 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002893T>C;NG_008866.1:g.83554T>C;NM_000540.2:c.9242T>C;NM_001042723.1:c.9242T>C;NP_000531.2:p.Met3081Thr;NP_001036188.1:p.Met3081Thr 340454660 147012990 20100804_snps_12098201_chr19_39002893 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39002893T>C;NG_008866.1:g.83554T>C;NM_000540.2:c.9242T>C;NM_001042723.1:c.9242T>C;NP_000531.2:p.Met3081Thr;NP_001036188.1:p.Met3081Thr 342496590 147012990 ESP2500-chr19-39002893 3.70e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002893T>C;NG_008866.1:g.83554T>C;NM_000540.2:c.9242T>C;NM_001042723.1:c.9242T>C;NP_000531.2:p.Met3081Thr;NP_001036188.1:p.Met3081Thr 491158075 147012990 20110521_exome_665873_chr19_39002893 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39002893T>C;NG_008866.1:g.83554T>C;NM_000540.2:c.9242T>C;NM_001042723.1:c.9242T>C;NP_000531.2:p.Met3081Thr;NP_001036188.1:p.Met3081Thr 491546485 147012990 nonsyn_262711_chr_19_39002893 3.70e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39002912C>T;NG_008866.1:g.83573C>T;NM_000540.2:c.9261C>T;NM_001042723.1:c.9261C>T;NP_000531.2:p.Ile3087=;NP_001036188.1:p.Ile3087= 76893893 56338790 NT_011109.15_11271130 2007.09.20 2007.09.20 2007.12.07 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39002912C>T;NG_008866.1:g.83573C>T;NM_000540.2:c.9261C>T;NM_001042723.1:c.9261C>T;NP_000531.2:p.Ile3087=;NP_001036188.1:p.Ile3087= 491766246 56338790 SNV-chr19-43694752 2012.03.07 2012.03.13 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002913G>A;NG_008866.1:g.83574G>A;NM_000540.2:c.9262G>A;NM_001042723.1:c.9262G>A;NP_000531.2:p.Val3088Met;NP_001036188.1:p.Val3088Met 340454661 145044872 20100804_snps_12098202_chr19_39002913 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39002913G>A;NG_008866.1:g.83574G>A;NM_000540.2:c.9262G>A;NM_001042723.1:c.9262G>A;NP_000531.2:p.Val3088Met;NP_001036188.1:p.Val3088Met 342496591 145044872 ESP2500-chr19-39002913 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002913G>A;NG_008866.1:g.83574G>A;NM_000540.2:c.9262G>A;NM_001042723.1:c.9262G>A;NP_000531.2:p.Val3088Met;NP_001036188.1:p.Val3088Met 491158076 145044872 20110521_exome_665874_chr19_39002913 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39002913G>A;NG_008866.1:g.83574G>A;NM_000540.2:c.9262G>A;NM_001042723.1:c.9262G>A;NP_000531.2:p.Val3088Met;NP_001036188.1:p.Val3088Met 491546486 145044872 nonsyn_262712_chr_19_39002913 9.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39002950C>T;NG_008866.1:g.83611C>T;NM_000540.2:c.9299C>T;NM_001042723.1:c.9299C>T;NP_000531.2:p.Ser3100Leu;NP_001036188.1:p.Ser3100Leu 342496592 148412985 ESP2500-chr19-39002950 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.9310G>A NC_000019.9:g.39002961G>A;NG_008866.1:g.83622G>A;NM_000540.2:c.9310G>A;NM_001042723.1:c.9310G>A;NP_000531.2:p.Glu3104Lys;NP_001036188.1:p.Glu3104Lys 475871633 193922832 RYR1_00104 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39002983G>A;NG_008866.1:g.83644G>A;NM_000540.2:c.9332G>A;NM_001042723.1:c.9332G>A;NP_000531.2:p.Arg3111Gln;NP_001036188.1:p.Arg3111Gln 489164566 201145095 20110521_exome_255672_chr19_39002983 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39002998C>T;NG_008866.1:g.83659C>T;NM_000540.2:c.9347C>T;NM_001042723.1:c.9347C>T;NP_000531.2:p.Ser3116Leu;NP_001036188.1:p.Ser3116Leu 489164568 200238436 20110521_exome_255673_chr19_39002998 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39002998C>T;NG_008866.1:g.83659C>T;NM_000540.2:c.9347C>T;NM_001042723.1:c.9347C>T;NP_000531.2:p.Ser3116Leu;NP_001036188.1:p.Ser3116Leu 491766247 200238436 SNV-chr19-43694838 5.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 4113626 2915960 AC011469.6_98600 0 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 44178185 2915960 hCV15848797 0 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 48401757 2915960 hCV15848797 0 2005.11.30 2005.11.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 74906974 2915960 ILMN_Human_1M_rs2915960 0 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 119450248 2915960 KHS1612495 0 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 173532518 2915960 Human1M-Duov3_B_rs2915960-128_T_R_1513936334 0 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 342496593 2915960 ESP2500-chr19-39003004 0 2011.03.27 2011.03.27 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 489164570 2915960 20110521_exome_255674_chr19_39003004 0 2012.02.14 2012.02.14 2001.11.05 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39003004C>T;NG_008866.1:g.83665C>T;NM_000540.2:c.9353C>T;NM_001042723.1:c.9353C>T;NP_000531.2:p.Ala3118Val;NP_001036188.1:p.Ala3118Val 491546487 2915960 nonsyn_262713_chr_19_39003004 0 2012.03.06 2012.03.06 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39003005G>A;NG_008866.1:g.83666G>A;NM_000540.2:c.9354G>A;NM_001042723.1:c.9354G>A;NP_000531.2:p.Ala3118=;NP_001036188.1:p.Ala3118= 342496594 146408926 ESP2500-chr19-39003005 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CORNELL 6261 NC_000019.9:g.39003006C>T;NG_008866.1:g.83667C>T;NM_000540.2:c.9355C>T;NM_001042723.1:c.9355C>T;NP_000531.2:p.Arg3119Cys;NP_001036188.1:p.Arg3119Cys 86262680 61739911 hCV25954048 5.00e-04 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39003006C>T;NG_008866.1:g.83667C>T;NM_000540.2:c.9355C>T;NM_001042723.1:c.9355C>T;NP_000531.2:p.Arg3119Cys;NP_001036188.1:p.Arg3119Cys 342496595 61739911 ESP2500-chr19-39003006 5.00e-04 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003006C>T;NG_008866.1:g.83667C>T;NM_000540.2:c.9355C>T;NM_001042723.1:c.9355C>T;NP_000531.2:p.Arg3119Cys;NP_001036188.1:p.Arg3119Cys 465586878 61739911 20101123_snps_11754108_chr19_39003006 5.00e-04 2011.07.20 2011.07.20 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003006C>T;NG_008866.1:g.83667C>T;NM_000540.2:c.9355C>T;NM_001042723.1:c.9355C>T;NP_000531.2:p.Arg3119Cys;NP_001036188.1:p.Arg3119Cys 491158077 61739911 20110521_exome_665875_chr19_39003006 5.00e-04 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39003006C>T;NG_008866.1:g.83667C>T;NM_000540.2:c.9355C>T;NM_001042723.1:c.9355C>T;NP_000531.2:p.Arg3119Cys;NP_001036188.1:p.Arg3119Cys 491546488 61739911 nonsyn_262714_chr_19_39003006 5.00e-04 2012.03.06 2012.03.06 2008.03.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9356G>A NC_000019.9:g.39003007G>A;NG_008866.1:g.83668G>A;NM_000540.2:c.9356G>A;NM_001042723.1:c.9356G>A;NP_000531.2:p.Arg3119His;NP_001036188.1:p.Arg3119His 475871634 193922833 RYR1_00137 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39003036C>T;NG_008866.1:g.83697C>T;NM_000540.2:c.9385C>T;NM_001042723.1:c.9385C>T;NP_000531.2:p.Leu3129Phe;NP_001036188.1:p.Leu3129Phe 342496596 143445685 ESP2500-chr19-39003036 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39003036C>T;NG_008866.1:g.83697C>T;NM_000540.2:c.9385C>T;NM_001042723.1:c.9385C>T;NP_000531.2:p.Leu3129Phe;NP_001036188.1:p.Leu3129Phe 491546489 143445685 nonsyn_262715_chr_19_39003036 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003065G>A;NG_008866.1:g.83726G>A;NM_000540.2:c.9414G>A;NM_001042723.1:c.9414G>A;NP_000531.2:p.Pro3138=;NP_001036188.1:p.Pro3138= 228135838 116130182 pilot_1_YRI_9945521_chr19_43694905 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39003065G>A;NG_008866.1:g.83726G>A;NM_000540.2:c.9414G>A;NM_001042723.1:c.9414G>A;NP_000531.2:p.Pro3138=;NP_001036188.1:p.Pro3138= 342496597 116130182 ESP2500-chr19-39003065 3.70e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39003065G>A;NG_008866.1:g.83726G>A;NM_000540.2:c.9414G>A;NM_001042723.1:c.9414G>A;NP_000531.2:p.Pro3138=;NP_001036188.1:p.Pro3138= 482337448 116130182 HumanOmni2.5-4v1_D_kgp21450034-0_B_R_1844252356 3.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39003065G>A;NG_008866.1:g.83726G>A;NM_000540.2:c.9414G>A;NM_001042723.1:c.9414G>A;NP_000531.2:p.Pro3138=;NP_001036188.1:p.Pro3138= 483826012 116130182 HumanOmni2.5-4v1_B_SNP19-43694905-0_B_R_1647605919 3.70e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003065G>A;NG_008866.1:g.83726G>A;NM_000540.2:c.9414G>A;NM_001042723.1:c.9414G>A;NP_000531.2:p.Pro3138=;NP_001036188.1:p.Pro3138= 491158078 116130182 20110521_exome_665876_chr19_39003065 3.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39003097A>G;NG_008866.1:g.83758A>G;NM_000540.2:c.9446A>G;NM_001042723.1:c.9446A>G;NP_000531.2:p.Gln3149Arg;NP_001036188.1:p.Gln3149Arg 342496598 140295045 ESP2500-chr19-39003097 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39003117G>A;NG_008866.1:g.83778G>A;NM_000540.2:c.9466G>A;NM_001042723.1:c.9466G>A;NP_000531.2:p.Val3156Ile;NP_001036188.1:p.Val3156Ile 342496599 150230127 ESP2500-chr19-39003117 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003117G>A;NG_008866.1:g.83778G>A;NM_000540.2:c.9466G>A;NM_001042723.1:c.9466G>A;NP_000531.2:p.Val3156Ile;NP_001036188.1:p.Val3156Ile 489164572 150230127 20110521_exome_255675_chr19_39003117 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003153C>T;NG_008866.1:g.83814C>T;NM_000540.2:c.9472+30C>T;NM_001042723.1:c.9472+30C>T 228135839 77374921 pilot_1_YRI_9945522_chr19_43694993 4.44e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003153C>T;NG_008866.1:g.83814C>T;NM_000540.2:c.9472+30C>T;NM_001042723.1:c.9472+30C>T 237674259 77374921 pilot_1_CEU_7278888_chr19_43694993 4.44e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003153C>T;NG_008866.1:g.83814C>T;NM_000540.2:c.9472+30C>T;NM_001042723.1:c.9472+30C>T 491158079 77374921 20110521_exome_665877_chr19_39003153 4.44e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39003153C>T;NG_008866.1:g.83814C>T;NM_000540.2:c.9472+30C>T;NM_001042723.1:c.9472+30C>T 491766248 77374921 SNV-chr19-43694993 4.44e-02 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39003242G>C;NG_008866.1:g.83903G>C;NM_000540.2:c.9472+119G>C;NM_001042723.1:c.9472+119G>C 14719870 10420476 chr19.NT_011109.15_11271460 9.20e-03 2003.11.10 2006.10.25 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003242G>C;NG_008866.1:g.83903G>C;NM_000540.2:c.9472+119G>C;NM_001042723.1:c.9472+119G>C 228135840 10420476 pilot_1_YRI_9945523_chr19_43695082 9.20e-03 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39003256delC;NG_008866.1:g.83917delC;NM_000540.2:c.9472+133delC;NM_001042723.1:c.9472+133delC 40978375 35288366 hCV32823883 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 PERLEGEN 6261 NC_000019.9:g.39003263A>G;NG_008866.1:g.83924A>G;NM_000540.2:c.9472+140A>G;NM_001042723.1:c.9472+140A>G 23763197 16972685 afd3509150 2.15e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003263A>G;NG_008866.1:g.83924A>G;NM_000540.2:c.9472+140A>G;NM_001042723.1:c.9472+140A>G 237674260 16972685 pilot_1_CEU_7278889_chr19_43695103 2.15e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39003329C>T;NG_008866.1:g.83990C>T;NM_000540.2:c.9472+206C>T;NM_001042723.1:c.9472+206C>T 340454662 149045885 20100804_snps_12098203_chr19_39003329 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39003360T>C;NG_008866.1:g.84021T>C;NM_000540.2:c.9472+237T>C;NM_001042723.1:c.9472+237T>C 283206046 200705208 GMI_AK_SNP_7526467 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39003700G>A;NG_008866.1:g.84361G>A;NM_000540.2:c.9472+577G>A;NM_001042723.1:c.9472+577G>A 237674261 117724779 pilot_1_CEU_7278890_chr19_43695540 1.37e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BL 6261 NC_000019.9:g.39003700G>A;NG_008866.1:g.84361G>A;NM_000540.2:c.9472+577G>A;NM_001042723.1:c.9472+577G>A 255668807 117724779 SNP49707_19_43695540 1.37e-02 2010.08.20 2010.08.20 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39003846G>A;NG_008866.1:g.84507G>A;NM_000540.2:c.9472+723G>A;NM_001042723.1:c.9472+723G>A 465586879 190205162 20101123_snps_11754109_chr19_39003846 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39003849C>T;NG_008866.1:g.84510C>T;NM_000540.2:c.9472+726C>T;NM_001042723.1:c.9472+726C>T 465586880 181423990 20101123_snps_11754110_chr19_39003849 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39003887G>A;NG_008866.1:g.84548G>A;NM_000540.2:c.9472+764G>A;NM_001042723.1:c.9472+764G>A 199594688 113621237 BUSHMAN-chr8-107527931 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39004226G>A;NG_008866.1:g.84887G>A;NM_000540.2:c.9472+1103G>A;NM_001042723.1:c.9472+1103G>A 465586881 185224386 20101123_snps_11754111_chr19_39004226 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39004248C>T;NG_008866.1:g.84909C>T;NM_000540.2:c.9472+1125C>T;NM_001042723.1:c.9472+1125C>T 340454663 143023959 20100804_snps_12098204_chr19_39004248 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39004373C>T;NG_008866.1:g.85034C>T;NM_000540.2:c.9472+1250C>T;NM_001042723.1:c.9472+1250C>T 340454664 148226844 20100804_snps_12098205_chr19_39004373 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39004375_39004376insA;NG_008866.1:g.85036_85037insA;NM_000540.2:c.9472+1252_9472+1253insA;NM_001042723.1:c.9472+1252_9472+1253insA 40984567 35735689 hCV32823610 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39004375_39004376insA;NG_008866.1:g.85036_85037insA;NM_000540.2:c.9472+1252_9472+1253insA;NM_001042723.1:c.9472+1252_9472+1253insA 96281043 35735689 1103691141869 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39004395T>G;NG_008866.1:g.85056T>G;NM_000540.2:c.9473-1271T>G;NM_001042723.1:c.9473-1271T>G 243881036 118030839 pilot_1_CHB+JPT_5766113_chr19_43696235 2.34e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39004395T>G;NG_008866.1:g.85056T>G;NM_000540.2:c.9473-1271T>G;NM_001042723.1:c.9473-1271T>G 283206047 118030839 GMI_AK_SNP_7526468 2.34e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39004479T>C;NG_008866.1:g.85140T>C;NM_000540.2:c.9473-1187T>C;NM_001042723.1:c.9473-1187T>C 168183652 112802902 NA07022_36_chr19_43696319 7.55e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39004479T>C;NG_008866.1:g.85140T>C;NM_000540.2:c.9473-1187T>C;NM_001042723.1:c.9473-1187T>C 243881037 112802902 pilot_1_CHB+JPT_5766114_chr19_43696319 7.55e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39004479T>C;NG_008866.1:g.85140T>C;NM_000540.2:c.9473-1187T>C;NM_001042723.1:c.9473-1187T>C 255668811 112802902 SNP49708_19_43696319 7.55e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39004479T>C;NG_008866.1:g.85140T>C;NM_000540.2:c.9473-1187T>C;NM_001042723.1:c.9473-1187T>C 283206048 112802902 GMI_AK_SNP_7526469 7.55e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39004611C>A;NG_008866.1:g.85272C>A;NM_000540.2:c.9473-1055C>A;NM_001042723.1:c.9473-1055C>A 465586882 189986246 20101123_snps_11754112_chr19_39004611 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39004717C>T;NG_008866.1:g.85378C>T;NM_000540.2:c.9473-949C>T;NM_001042723.1:c.9473-949C>T 203751007 112780602 BUSHMAN-chr19-43696556 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39004920T>A;NG_008866.1:g.85581T>A;NM_000540.2:c.9473-746T>A;NM_001042723.1:c.9473-746T>A 20063540 12608904 CSHL-HuFF-200402.chr19.NT_011109.15_11273138 2004.02.22 2004.03.04 2004.02.28 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39004922A>T;NG_008866.1:g.85583A>T;NM_000540.2:c.9473-744A>T;NM_001042723.1:c.9473-744A>T 20068396 12610296 CSHL-HuFF-200402.chr19.NT_011109.15_11273140 2004.02.22 2004.03.04 2004.02.28 2011.09.09 137 ABI 6261 NC_000019.9:g.39004922_39004923insT;NG_008866.1:g.85583_85584insT;NM_000540.2:c.9473-744_9473-743insT;NM_001042723.1:c.9473-744_9473-743insT 40978802 35053231 hCV32823611 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HGSV 6261 NC_000019.9:g.39004923_39004924insT;NG_008866.1:g.85584_85585insT;NM_000540.2:c.9473-743_9473-742insT;NM_001042723.1:c.9473-743_9473-742insT 80290494 56826915 Cor18507_DIV_20070510.chr19_43696778-43696779_1 2007.11.25 2007.11.25 2007.12.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39004923_39004924insT;NG_008866.1:g.85584_85585insT;NM_000540.2:c.9473-743_9473-742insT;NM_001042723.1:c.9473-743_9473-742insT 95728340 56826915 1104685411606 2008.03.23 2008.12.03 2007.12.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39005025A>T;NG_008866.1:g.85686A>T;NM_000540.2:c.9473-641A>T;NM_001042723.1:c.9473-641A>T 340454665 141659378 20100804_snps_12098206_chr19_39005025 1.51e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39005132G>C;NG_008866.1:g.85793G>C;NM_000540.2:c.9473-534G>C;NM_001042723.1:c.9473-534G>C 283206049 200793674 GMI_AK_SNP_7526470 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39005141G>A;NG_008866.1:g.85802G>A;NM_000540.2:c.9473-525G>A;NM_001042723.1:c.9473-525G>A 283206050 183704977 GMI_AK_SNP_7526471 1.83e-02 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005141G>A;NG_008866.1:g.85802G>A;NM_000540.2:c.9473-525G>A;NM_001042723.1:c.9473-525G>A 465586883 183704977 20101123_snps_11754113_chr19_39005141 1.83e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39005173A>G;NG_008866.1:g.85834A>G;NM_000540.2:c.9473-493A>G;NM_001042723.1:c.9473-493A>G 12456332 8103702 chr19.NT_011109.15_11273391 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 19404290 12461783 CSHL-HuDD-200402.chr19.NT_011109.15_11273472 2.66e-02 2004.02.21 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 21535894 12461783 WGSA-200403-chr19.chr19.NT_011109.15_11273472 2.66e-02 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 41001080 12461783 hCV7821577 2.66e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 67009379 12461783 HumanHap550v1.1_rs12461783 2.66e-02 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 67328938 12461783 HumanHap650Yv1.0_rs12461783 2.66e-02 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 68129884 12461783 HumanHap250Sv1.0_rs12461783 2.66e-02 2006.12.06 2006.12.07 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 70569454 12461783 HumanHap550v3.0__rs12461783 2.66e-02 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 71109902 12461783 HumanHap650Yv3.0_rs12461783 2.66e-02 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 75074271 12461783 ILMN_Human_1M_rs12461783 2.66e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 76787108 12461783 AFFY_6_1M_SNP_A-8648472 2.66e-02 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 85224856 12461783 KHS933279 2.66e-02 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 153203586 12461783 Human610_Quadv1_B_rs12461783-126_B_R_1502117126 2.66e-02 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 159218436 12461783 Human660W-Quad_v1_A_rs12461783-126_B_R_1502117126 2.66e-02 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 172099080 12461783 Human1M-Duov3_B_rs12461783-126_B_R_1502117126 2.66e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 203751008 12461783 BUSHMAN-chr19-43697093 2.66e-02 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 228135841 12461783 pilot_1_YRI_9945524_chr19_43697094 2.66e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 243881039 12461783 pilot_1_CHB+JPT_5766116_chr19_43697094 2.66e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 283206051 12461783 GMI_AK_SNP_7526472 2.66e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 482353950 12461783 HumanOmni2.5-4v1_D_kgp21541371-0_B_R_1844435013 2.66e-02 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005254A>G;NG_008866.1:g.85915A>G;NM_000540.2:c.9473-412A>G;NM_001042723.1:c.9473-412A>G 483826015 12461783 HumanOmni2.5-4v1_B_SNP19-43697094-0_B_R_1635711431 2.66e-02 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005317C>T;NG_008866.1:g.85978C>T;NM_000540.2:c.9473-349C>T;NM_001042723.1:c.9473-349C>T 340454666 145309842 20100804_snps_12098207_chr19_39005317 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39005399C>G;NG_008866.1:g.86060C>G;NM_000540.2:c.9473-267C>G;NM_001042723.1:c.9473-267C>G 340454667 138967657 20100804_snps_12098208_chr19_39005399 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39005530G>C;NG_008866.1:g.86191G>C;NM_000540.2:c.9473-136G>C;NM_001042723.1:c.9473-136G>C 340454668 142093535 20100804_snps_12098209_chr19_39005530 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39005539A>G;NG_008866.1:g.86200A>G;NM_000540.2:c.9473-127A>G;NM_001042723.1:c.9473-127A>G 228135842 114618055 pilot_1_YRI_9945525_chr19_43697379 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39005542G>C;NG_008866.1:g.86203G>C;NM_000540.2:c.9473-124G>C;NM_001042723.1:c.9473-124G>C 340454669 150917093 20100804_snps_12098210_chr19_39005542 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39005562C>T;NG_008866.1:g.86223C>T;NM_000540.2:c.9473-104C>T;NM_001042723.1:c.9473-104C>T 19404527 12461853 CSHL-HuDD-200402.chr19.NT_011109.15_11273780 2.24e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39005562C>T;NG_008866.1:g.86223C>T;NM_000540.2:c.9473-104C>T;NM_001042723.1:c.9473-104C>T 40961310 12461853 hCV7821576 2.24e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39005562C>T;NG_008866.1:g.86223C>T;NM_000540.2:c.9473-104C>T;NM_001042723.1:c.9473-104C>T 161878506 12461853 ENSSNP1527941 2.24e-02 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005562C>T;NG_008866.1:g.86223C>T;NM_000540.2:c.9473-104C>T;NM_001042723.1:c.9473-104C>T 243881040 12461853 pilot_1_CHB+JPT_5766117_chr19_43697402 2.24e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39005562C>T;NG_008866.1:g.86223C>T;NM_000540.2:c.9473-104C>T;NM_001042723.1:c.9473-104C>T 283206052 12461853 GMI_AK_SNP_7526473 2.24e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005632C>T;NG_008866.1:g.86293C>T;NM_000540.2:c.9473-34C>T;NM_001042723.1:c.9473-34C>T 465586884 187568260 20101123_snps_11754114_chr19_39005632 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005632C>T;NG_008866.1:g.86293C>T;NM_000540.2:c.9473-34C>T;NM_001042723.1:c.9473-34C>T 491158080 187568260 20110521_exome_665878_chr19_39005632 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005670C>T;NG_008866.1:g.86331C>T;NM_000540.2:c.9477C>T;NM_001042723.1:c.9477C>T;NP_000531.2:p.Asp3159=;NP_001036188.1:p.Asp3159= 340454670 139409128 20100804_snps_12098211_chr19_39005670 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005670C>T;NG_008866.1:g.86331C>T;NM_000540.2:c.9477C>T;NM_001042723.1:c.9477C>T;NP_000531.2:p.Asp3159=;NP_001036188.1:p.Asp3159= 491158081 139409128 20110521_exome_665879_chr19_39005670 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39005712C>T;NG_008866.1:g.86373C>T;NM_000540.2:c.9519C>T;NM_001042723.1:c.9519C>T;NP_000531.2:p.Tyr3173=;NP_001036188.1:p.Tyr3173= 342496600 138815601 ESP2500-chr19-39005712 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39005843T>A;NG_008866.1:g.86504T>A;NM_000540.2:c.9554+96T>A;NM_001042723.1:c.9554+96T>A 228135843 115388991 pilot_1_YRI_9945526_chr19_43697683 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39005848A>G;NG_008866.1:g.86509A>G;NM_000540.2:c.9554+101A>G;NM_001042723.1:c.9554+101A>G 171754325 78341134 NA20431_36_chr19_43697688 1.51e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005848A>G;NG_008866.1:g.86509A>G;NM_000540.2:c.9554+101A>G;NM_001042723.1:c.9554+101A>G 237674262 78341134 pilot_1_CEU_7278891_chr19_43697688 1.51e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 4113606 2915942 AC011469.6_101533 1.23e-01 germline untested 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 21513059 2915942 WGSA-200403-chr19.chr19.NT_011109.15_11274155 1.23e-01 unknown untested 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 44167696 2915942 hCV7821567 1.23e-01 germline untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 66777992 2915942 HumanHap300v1.1_rs2915942 1.23e-01 unknown untested 2006.11.09 2006.11.09 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 70761587 2915942 HumanHap550v3.0__rs2915942 1.23e-01 germline untested 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 71335499 2915942 HumanHap650Yv3.0_rs2915942 1.23e-01 unknown untested 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 75776753 2915942 ILMN_Human_1M_rs2915942 1.23e-01 germline untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 79153760 2915942 HumanHap300v2.0_rs2915942 1.23e-01 germline untested 2007.11.18 2007.11.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 83495673 2915942 Cor18555_SNV_20070510.chr19_43697777 1.23e-01 unknown untested 2007.12.05 2007.12.05 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 96305711 2915942 1103691141871 1.23e-01 germline untested 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 115120720 2915942 NA19240_2008_12_16_3257629_chr19_43697777 1.23e-01 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 122142937 2915942 HumanCNV370v1_C_rs2915942 1.23e-01 germline untested 2009.04.15 2009.04.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 136267473 2915942 ENSSNP1527942 1.23e-01 germline untested 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 154246026 2915942 Human610_Quadv1_B_rs2915942-128_B_F_1501747906 1.23e-01 germline untested 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 159422902 2915942 Human660W-Quad_v1_A_rs2915942-128_B_F_1501747906 1.23e-01 germline untested 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 169708213 2915942 NA19240_36_chr19_43697777 1.23e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 171480984 2915942 HumanCNV370-Quadv3_C_rs2915942-128_B_F_1501747906 1.23e-01 unknown untested 2009.10.01 2009.10.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 173532510 2915942 Human1M-Duov3_B_rs2915942-128_B_F_1501747906 1.23e-01 germline untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 228135844 2915942 pilot_1_YRI_9945527_chr19_43697777 1.23e-01 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 237674263 2915942 pilot_1_CEU_7278892_chr19_43697777 1.23e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 243881042 2915942 pilot_1_CHB+JPT_5766119_chr19_43697777 1.23e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 292248533 2915942 SNP_1754891_chr19_43697777 1.23e-01 germline untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9554+190G>T NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 475871635 2915942 RYR1_00374 1.23e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 483372206 2915942 HumanOmni2.5-4v1_D_kgp4523374-0_T_R_1816117915 1.23e-01 unknown untested 2012.02.02 2012.02.02 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39005937G>T;NG_008866.1:g.86598G>T;NM_000540.2:c.9554+190G>T;NM_001042723.1:c.9554+190G>T 483826017 2915942 HumanOmni2.5-4v1_B_SNP19-43697777-0_T_R_1628560001 1.23e-01 unknown untested 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39006083delA;NG_008866.1:g.86744delA;NM_000540.2:c.9554+336delA;NM_001042723.1:c.9554+336delA 289387907 201252999 GMI_AK_INDEL_1065364 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39006133G>A;NG_008866.1:g.86794G>A;NM_000540.2:c.9554+386G>A;NM_001042723.1:c.9554+386G>A 211962638 76697375 YRI.trio.3.2010_1440256_chr19_43697973 1.56e-02 2010.03.31 2010.03.31 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39006133G>A;NG_008866.1:g.86794G>A;NM_000540.2:c.9554+386G>A;NM_001042723.1:c.9554+386G>A 228135845 76697375 pilot_1_YRI_9945528_chr19_43697973 1.56e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 PERLEGEN 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 23763202 16972686 afd3509151 3.80e-02 2004.08.20 2004.09.13 2004.09.20 2012.11.28 137 ABI 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 40990841 16972686 hCV7821566 3.80e-02 2005.07.17 2006.11.03 2004.09.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 96305712 16972686 1103691141873 3.80e-02 2008.03.26 2008.03.26 2004.09.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 132762462 16972686 ENSSNP1527943 3.80e-02 2009.05.12 2009.10.15 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 160404883 16972686 HumanOmni1-Quad_v1-0_B_rs16972686-128_T_F_1586408448 3.80e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 203751009 16972686 BUSHMAN-chr19-43697975 3.80e-02 2010.03.09 2010.03.09 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 228135846 16972686 pilot_1_YRI_9945529_chr19_43697976 3.80e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 237674264 16972686 pilot_1_CEU_7278893_chr19_43697976 3.80e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 PJP 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 292248534 16972686 SNP_1754892_chr19_43697976 3.80e-02 2011.01.21 2011.01.21 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39006136A>G;NG_008866.1:g.86797A>G;NM_000540.2:c.9554+389A>G;NM_001042723.1:c.9554+389A>G 480836481 16972686 HumanOmni1-Quad_v1-0_C_rs16972686-131_T_F_1863387202 3.80e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006160G>C;NG_008866.1:g.86821G>C;NM_000540.2:c.9554+413G>C;NM_001042723.1:c.9554+413G>C 465586885 191395924 20101123_snps_11754115_chr19_39006160 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39006269A>C;NG_008866.1:g.86930A>C;NM_000540.2:c.9555-458A>C;NM_001042723.1:c.9555-458A>C 82792120 59591700 Cor18555_SNV_20070510.chr19_43698109 1.03e-01 2007.12.03 2007.12.03 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006269A>C;NG_008866.1:g.86930A>C;NM_000540.2:c.9555-458A>C;NM_001042723.1:c.9555-458A>C 237674265 59591700 pilot_1_CEU_7278894_chr19_43698109 1.03e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006269A>C;NG_008866.1:g.86930A>C;NM_000540.2:c.9555-458A>C;NM_001042723.1:c.9555-458A>C 243881043 59591700 pilot_1_CHB+JPT_5766120_chr19_43698109 1.03e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39006269A>C;NG_008866.1:g.86930A>C;NM_000540.2:c.9555-458A>C;NM_001042723.1:c.9555-458A>C 283206053 59591700 GMI_AK_SNP_7526474 1.03e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006270_39006271insA;NG_008866.1:g.86931_86932insA;NM_000540.2:c.9555-457_9555-456insA;NM_001042723.1:c.9555-457_9555-456insA 499576377 200154580 20110316_indels_chr19_39006270_39006271 3.11e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006279A>T;NG_008866.1:g.86940A>T;NM_000540.2:c.9555-448A>T;NM_001042723.1:c.9555-448A>T 465586886 183720350 20101123_snps_11754116_chr19_39006279 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 6261 NC_000019.9:g.39006280T>A;NG_008866.1:g.86941T>A;NM_000540.2:c.9555-447T>A;NM_001042723.1:c.9555-447T>A 103437774 78100904 BGI_YHSNP0125969 4.03e-02 2008.06.06 2009.06.17 2009.12.01 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006280T>A;NG_008866.1:g.86941T>A;NM_000540.2:c.9555-447T>A;NM_001042723.1:c.9555-447T>A 465586887 78100904 20101123_snps_11754117_chr19_39006280 4.03e-02 2011.07.20 2011.07.20 2009.12.01 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39006287T>A;NG_008866.1:g.86948T>A;NM_000540.2:c.9555-440T>A;NM_001042723.1:c.9555-440T>A 203751010 113886322 BUSHMAN-chr19-43698126 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39006312A>T;NG_008866.1:g.86973A>T;NM_000540.2:c.9555-415A>T;NM_001042723.1:c.9555-415A>T 465586888 191678255 20101123_snps_11754118_chr19_39006312 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006318G>A;NG_008866.1:g.86979G>A;NM_000540.2:c.9555-409G>A;NM_001042723.1:c.9555-409G>A 465586889 182641800 20101123_snps_11754119_chr19_39006318 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006362G>A;NG_008866.1:g.87023G>A;NM_000540.2:c.9555-365G>A;NM_001042723.1:c.9555-365G>A 465586890 186520298 20101123_snps_11754120_chr19_39006362 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 111365880 73031001 CEU.trio.12.15.2008_3616671_chr19_43698223 1.08e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 203751011 73031001 BUSHMAN-chr19-43698222 1.08e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 208416416 73031001 BCM_CMT_1011-3096373 1.08e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 228135847 73031001 pilot_1_YRI_9945530_chr19_43698223 1.08e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 237674266 73031001 pilot_1_CEU_7278895_chr19_43698223 1.08e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 243881045 73031001 pilot_1_CHB+JPT_5766122_chr19_43698223 1.08e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39006383A>G;NG_008866.1:g.87044A>G;NM_000540.2:c.9555-344A>G;NM_001042723.1:c.9555-344A>G 283206054 73031001 GMI_AK_SNP_7526475 1.08e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39006644A>G;NG_008866.1:g.87305A>G;NM_000540.2:c.9555-83A>G;NM_001042723.1:c.9555-83A>G 283206055 201114834 GMI_AK_SNP_7526476 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_JCM 6261 NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 4171560 2960328 AC091486.2_44625 2.15e-02 unknown untested 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 169708228 2960328 NA19240_36_chr19_43698554 2.15e-02 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 211962640 2960328 YRI.trio.3.2010_1440257_chr19_43698554 2.15e-02 germline untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 228135848 2960328 pilot_1_YRI_9945531_chr19_43698554 2.15e-02 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9555-13C>T NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 475871636 2960328 RYR1_00373 2.15e-02 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006714C>T;NG_008866.1:g.87375C>T;NM_000540.2:c.9555-13C>T;NM_001042723.1:c.9555-13C>T 491158082 2960328 20110521_exome_665880_chr19_39006714 2.15e-02 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006718G>A;NG_008866.1:g.87379G>A;NM_000540.2:c.9555-9G>A;NM_001042723.1:c.9555-9G>A 340454671 149569999 20100804_snps_12098212_chr19_39006718 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006718G>A;NG_008866.1:g.87379G>A;NM_000540.2:c.9555-9G>A;NM_001042723.1:c.9555-9G>A 491158083 149569999 20110521_exome_665881_chr19_39006718 4.60e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39006727G>C;NG_008866.1:g.87388G>C;NM_000540.2:c.9555G>C;NM_001042723.1:c.9555G>C;NP_000531.2:p.Lys3185Asn;NP_001036188.1:p.Lys3185Asn 491546490 201080180 splice_262716_chr_19_39006727 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39006788C>G;NG_008866.1:g.87449C>G;NM_000540.2:c.9616C>G;NM_001042723.1:c.9616C>G;NP_000531.2:p.Leu3206Val;NP_001036188.1:p.Leu3206Val 465586891 191357389 20101123_snps_11754121_chr19_39006788 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006806G>A;NG_008866.1:g.87467G>A;NM_000540.2:c.9634G>A;NM_001042723.1:c.9634G>A;NP_000531.2:p.Glu3212Lys;NP_001036188.1:p.Glu3212Lys 465586892 185371036 20101123_snps_11754122_chr19_39006806 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 EXOME_CHIP 6261 NC_000019.9:g.39006807A>G;NG_008866.1:g.87468A>G;NM_000540.2:c.9635A>G;NM_001042723.1:c.9635A>G;NP_000531.2:p.Glu3212Gly;NP_001036188.1:p.Glu3212Gly 491546491 199738299 nonsyn_262717_chr_19_39006807 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39006814C>T;NG_008866.1:g.87475C>T;NM_000540.2:c.9642C>T;NM_001042723.1:c.9642C>T;NP_000531.2:p.Asn3214=;NP_001036188.1:p.Asn3214= 489164574 200736343 20110521_exome_255676_chr19_39006814 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 POPS 6261 NC_000019.9:g.39006821T>C;NG_008866.1:g.87482T>C;NM_000540.2:c.9649T>C;NM_001042723.1:c.9649T>C;NP_000531.2:p.Ser3217Pro;NP_001036188.1:p.Ser3217Pro 182258912 113422327 MHY12 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39006844G>T;NG_008866.1:g.87505G>T;NM_000540.2:c.9672G>T;NM_001042723.1:c.9672G>T;NP_000531.2:p.Pro3224=;NP_001036188.1:p.Pro3224= 489164576 199644190 20110521_exome_255677_chr19_39006844 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39006873C>T;NG_008866.1:g.87534C>T;NM_000540.2:c.9685+16C>T;NM_001042723.1:c.9685+16C>T 69378892 45496799 NT_011109.15_11275091 3.20e-03 2007.04.12 2007.04.12 2007.05.17 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39006873C>T;NG_008866.1:g.87534C>T;NM_000540.2:c.9685+16C>T;NM_001042723.1:c.9685+16C>T 168183664 45496799 NA07022_36_chr19_43698713 3.20e-03 2009.09.30 2009.09.30 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006873C>T;NG_008866.1:g.87534C>T;NM_000540.2:c.9685+16C>T;NM_001042723.1:c.9685+16C>T 237674267 45496799 pilot_1_CEU_7278896_chr19_43698713 3.20e-03 2010.05.01 2010.05.01 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006873C>T;NG_008866.1:g.87534C>T;NM_000540.2:c.9685+16C>T;NM_001042723.1:c.9685+16C>T 491158084 45496799 20110521_exome_665882_chr19_39006873 3.20e-03 2012.02.22 2012.02.22 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39006963C>T;NG_008866.1:g.87624C>T;NM_000540.2:c.9685+106C>T;NM_001042723.1:c.9685+106C>T 465586893 190666977 20101123_snps_11754123_chr19_39006963 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39006967T>C;NG_008866.1:g.87628T>C;NM_000540.2:c.9685+110T>C;NM_001042723.1:c.9685+110T>C 465586894 193139988 20101123_snps_11754124_chr19_39006967 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39007005A>G;NG_008866.1:g.87666A>G;NM_000540.2:c.9685+148A>G;NM_001042723.1:c.9685+148A>G 340454673 140677072 20100804_snps_12098214_chr19_39007005 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 4113607 2915943 AC011469.6_102686 4.17e-02 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 115120730 2915943 NA19240_2008_12_16_3257630_chr19_43698930 4.17e-02 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 160598711 2915943 HumanOmni1-Quad_v1-0_B_rs2915943-128_B_F_1569354935 4.17e-02 2009.08.06 2009.10.03 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 169708242 2915943 NA19240_36_chr19_43698930 4.17e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 228135849 2915943 pilot_1_YRI_9945532_chr19_43698930 4.17e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 480716741 2915943 HumanOmni2.5-4v1_B_rs2915943-128_B_F_1569354935 4.17e-02 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 480732446 2915943 HumanOmniExpress-12v1_C_rs2915943-131_B_F_1858065040 4.17e-02 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 481609385 2915943 HumanOmni1-Quad_v1-0_C_rs2915943-131_B_F_1865396658 4.17e-02 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007090T>C;NG_008866.1:g.87751T>C;NM_000540.2:c.9685+233T>C;NM_001042723.1:c.9685+233T>C 485153116 2915943 HumanOmni2.5-4v1_D_rs2915943-131_B_F_1858065040 4.17e-02 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007104_39007105insAA;NG_008866.1:g.87765_87766insAA;NM_000540.2:c.9685+247_9685+248insAA;NM_001042723.1:c.9685+247_9685+248insAA 328276246 145471784 YRI_chr19_43698946_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007104_39007105insAA;NG_008866.1:g.87765_87766insAA;NM_000540.2:c.9685+247_9685+248insAA;NM_001042723.1:c.9685+247_9685+248insAA 499576381 145471784 20110316_indels_chr19_39007106_39007107 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007143G>A;NG_008866.1:g.87804G>A;NM_000540.2:c.9685+286G>A;NM_001042723.1:c.9685+286G>A 228135850 114423237 pilot_1_YRI_9945533_chr19_43698983 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39007166A>G;NG_008866.1:g.87827A>G;NM_000540.2:c.9685+309A>G;NM_001042723.1:c.9685+309A>G 465586895 185268695 20101123_snps_11754125_chr19_39007166 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39007210A>C;NG_008866.1:g.87871A>C;NM_000540.2:c.9685+353A>C;NM_001042723.1:c.9685+353A>C 228135851 115308402 pilot_1_YRI_9945534_chr19_43699050 3.53e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39007210A>C;NG_008866.1:g.87871A>C;NM_000540.2:c.9685+353A>C;NM_001042723.1:c.9685+353A>C 237674268 115308402 pilot_1_CEU_7278897_chr19_43699050 3.53e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39007304G>A;NG_008866.1:g.87965G>A;NM_000540.2:c.9685+447G>A;NM_001042723.1:c.9685+447G>A 465586896 189179589 20101123_snps_11754126_chr19_39007304 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39007327G>A;NG_008866.1:g.87988G>A;NM_000540.2:c.9685+470G>A;NM_001042723.1:c.9685+470G>A 340454674 144742075 20100804_snps_12098215_chr19_39007327 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39007382C>T;NG_008866.1:g.88043C>T;NM_000540.2:c.9685+525C>T;NM_001042723.1:c.9685+525C>T 465586897 181202738 20101123_snps_11754127_chr19_39007382 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39007405G>A;NG_008866.1:g.88066G>A;NM_000540.2:c.9685+548G>A;NM_001042723.1:c.9685+548G>A 228135852 74744182 pilot_1_YRI_9945535_chr19_43699245 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 4113608 2915944 AC011469.6_103106 2.15e-02 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 67685426 2915944 HumanHap650Yv1.0_rs2915944 2.15e-02 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 71335500 2915944 HumanHap650Yv3.0_rs2915944 2.15e-02 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 75353501 2915944 ILMN_Human_1M_rs2915944 2.15e-02 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 115120736 2915944 NA19240_2008_12_16_3257631_chr19_43699350 2.15e-02 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 119450245 2915944 KHS1612492 2.15e-02 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 160598712 2915944 HumanOmni1-Quad_v1-0_B_rs2915944-128_T_R_1502354673 2.15e-02 2009.08.06 2009.10.03 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 169708262 2915944 NA19240_36_chr19_43699350 2.15e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 173532513 2915944 Human1M-Duov3_B_rs2915944-128_T_R_1502354673 2.15e-02 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 228135853 2915944 pilot_1_YRI_9945536_chr19_43699350 2.15e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 480716745 2915944 HumanOmni2.5-4v1_B_rs2915944-128_T_R_1773492790 2.15e-02 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 480732450 2915944 HumanOmniExpress-12v1_C_rs2915944-131_T_R_1857371093 2.15e-02 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 481609389 2915944 HumanOmni1-Quad_v1-0_C_rs2915944-131_T_R_1865423789 2.15e-02 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39007510T>C;NG_008866.1:g.88171T>C;NM_000540.2:c.9686-489T>C;NM_001042723.1:c.9686-489T>C 485153118 2915944 HumanOmni2.5-4v1_D_rs2915944-131_T_R_1857371093 2.15e-02 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 81088476 61309874 Cor18956_DIV_20070510.chr19_43699375-43699377_1 2007.11.27 2007.11.27 2007.12.16 2012.05.11 137 HGSV 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 81175190 61309874 Cor18956_DIV_20070510.chr19_43699375-43699377_2 2007.11.28 2007.11.28 2007.12.16 2012.05.11 137 HGSV 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 81725529 61309874 Cor18956_DIV_20070510.chr19_43699375-43699377_3 2007.12.01 2007.12.01 2007.12.16 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 100115194 61309874 INDEL_GP36_2008a_2150248_0 2008.05.16 2008.05.16 2007.12.16 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 100115196 61309874 INDEL_GP36_2008a_2150248_1 2008.05.16 2008.05.16 2007.12.16 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39007535delT;NG_008866.1:g.88196delT;NM_000540.2:c.9686-464delT;NM_001042723.1:c.9686-464delT 100115200 61309874 INDEL_GP36_2008a_2150248_2 2008.05.16 2008.05.16 2007.12.16 2012.05.11 137 1000GENOMES 6261 NC_000019.9:g.39007798G>A;NG_008866.1:g.88459G>A;NM_000540.2:c.9686-201G>A;NM_001042723.1:c.9686-201G>A 340454675 147890607 20100804_snps_12098216_chr19_39007798 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39007823A>G;NG_008866.1:g.88484A>G;NM_000540.2:c.9686-176A>G;NM_001042723.1:c.9686-176A>G 465586898 185763052 20101123_snps_11754128_chr19_39007823 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 203751012 79817401 BUSHMAN-chr19-43699692 9.66e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 208397607 79817401 BCM_CMT_1011-3090119 9.66e-02 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 228135854 79817401 pilot_1_YRI_9945537_chr19_43699693 9.66e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 237674269 79817401 pilot_1_CEU_7278898_chr19_43699693 9.66e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 243881046 79817401 pilot_1_CHB+JPT_5766123_chr19_43699693 9.66e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39007853G>A;NG_008866.1:g.88514G>A;NM_000540.2:c.9686-146G>A;NM_001042723.1:c.9686-146G>A 283206056 79817401 GMI_AK_SNP_7526477 9.66e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007887T>C;NG_008866.1:g.88548T>C;NM_000540.2:c.9686-112T>C;NM_001042723.1:c.9686-112T>C 237674270 117832528 pilot_1_CEU_7278899_chr19_43699727 1.92e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39007979C>T;NG_008866.1:g.88640C>T;NM_000540.2:c.9686-20C>T;NM_001042723.1:c.9686-20C>T 489164578 201605096 20110521_exome_255678_chr19_39007979 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 3250965 2304151 IMS-JST061050 7.78e-02 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 103437775 2304151 BGI_rs2304151 7.78e-02 unknown untested 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 160534163 2304151 HumanOmni1-Quad_v1-0_B_rs2304151-128_T_F_1562496771 7.78e-02 germline untested 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 208559866 2304151 BCM_CMT_1011-3144623 7.78e-02 germline untested 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 228135855 2304151 pilot_1_YRI_9945538_chr19_43699843 7.78e-02 unknown untested 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 237674271 2304151 pilot_1_CEU_7278900_chr19_43699843 7.78e-02 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 243881047 2304151 pilot_1_CHB+JPT_5766124_chr19_43699843 7.78e-02 unknown untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 255668815 2304151 SNP49709_19_43699843 7.78e-02 germline untested 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 283206057 2304151 GMI_AK_SNP_7526478 7.78e-02 unknown untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 342496601 2304151 ESP2500-chr19-39008003 7.78e-02 germline untested 2011.03.27 2011.03.27 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.9690G>A NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 475871637 2304151 RYR1_00063 7.78e-02 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 479634509 2304151 HumanOmni2.5-4v1_D_kgp11293160-0_B_R_1816237661 7.78e-02 unknown untested 2012.01.30 2012.01.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 481351045 2304151 HumanOmni1-Quad_v1-0_C_rs2304151-131_T_F_1863351113 7.78e-02 germline untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 483826019 2304151 HumanOmni2.5-4v1_B_SNP19-43699843-0_B_R_1613206497 7.78e-02 germline untested 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 491158085 2304151 20110521_exome_665883_chr19_39008003 7.78e-02 unknown untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39008003G>A;NG_008866.1:g.88664G>A;NM_000540.2:c.9690G>A;NM_001042723.1:c.9690G>A;NP_000531.2:p.Leu3230=;NP_001036188.1:p.Leu3230= 491766249 2304151 SNV-chr19-43699843 7.78e-02 unknown untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39008026A>G;NG_008866.1:g.88687A>G;NM_000540.2:c.9713A>G;NM_001042723.1:c.9713A>G;NP_000531.2:p.Glu3238Gly;NP_001036188.1:p.Glu3238Gly 491546492 200950673 nonsyn_262718_chr_19_39008026 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 CLINSEQ_SNP 6261 NC_000019.9:g.39008036C>T;NG_008866.1:g.88697C>T;NM_000540.2:c.9723C>T;NM_001042723.1:c.9723C>T;NP_000531.2:p.Pro3241=;NP_001036188.1:p.Pro3241= 491766250 199828145 SNV-chr19-43699876 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39008084C>T;NG_008866.1:g.88745C>T;NM_000540.2:c.9771C>T;NM_001042723.1:c.9771C>T;NP_000531.2:p.Ala3257=;NP_001036188.1:p.Ala3257= 159739640 75991872 RYR1-43699924 4.60e-03 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008084C>T;NG_008866.1:g.88745C>T;NM_000540.2:c.9771C>T;NM_001042723.1:c.9771C>T;NP_000531.2:p.Ala3257=;NP_001036188.1:p.Ala3257= 340454676 75991872 20100804_snps_12098217_chr19_39008084 4.60e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39008084C>T;NG_008866.1:g.88745C>T;NM_000540.2:c.9771C>T;NM_001042723.1:c.9771C>T;NP_000531.2:p.Ala3257=;NP_001036188.1:p.Ala3257= 342496602 75991872 ESP2500-chr19-39008084 4.60e-03 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008084C>T;NG_008866.1:g.88745C>T;NM_000540.2:c.9771C>T;NM_001042723.1:c.9771C>T;NP_000531.2:p.Ala3257=;NP_001036188.1:p.Ala3257= 491158086 75991872 20110521_exome_665884_chr19_39008084 4.60e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008098G>A;NG_008866.1:g.88759G>A;NM_000540.2:c.9785G>A;NM_001042723.1:c.9785G>A;NP_000531.2:p.Arg3262His;NP_001036188.1:p.Arg3262His 489164580 200855514 20110521_exome_255679_chr19_39008098 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39008109A>C;NG_008866.1:g.88770A>C;NM_000540.2:c.9796A>C;NM_001042723.1:c.9796A>C;NP_000531.2:p.Met3266Leu;NP_001036188.1:p.Met3266Leu 491546493 201588259 nonsyn_262719_chr_19_39008109 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39008111G>A;NG_008866.1:g.88772G>A;NM_000540.2:c.9798G>A;NM_001042723.1:c.9798G>A;NP_000531.2:p.Met3266Ile;NP_001036188.1:p.Met3266Ile 465586899 188176550 20101123_snps_11754129_chr19_39008111 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008111G>A;NG_008866.1:g.88772G>A;NM_000540.2:c.9798G>A;NM_001042723.1:c.9798G>A;NP_000531.2:p.Met3266Ile;NP_001036188.1:p.Met3266Ile 491158087 188176550 20110521_exome_665885_chr19_39008111 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39008113C>T;NG_008866.1:g.88774C>T;NM_000540.2:c.9800C>T;NM_001042723.1:c.9800C>T;NP_000531.2:p.Pro3267Leu;NP_001036188.1:p.Pro3267Leu 491766251 200375946 SNV-chr19-43699953 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39008114G>A;NG_008866.1:g.88775G>A;NM_000540.2:c.9801G>A;NM_001042723.1:c.9801G>A;NP_000531.2:p.Pro3267=;NP_001036188.1:p.Pro3267= 342496603 138263729 ESP2500-chr19-39008114 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39008172C>T;NG_008866.1:g.88833C>T;NM_000540.2:c.9859C>T;NM_001042723.1:c.9859C>T;NP_000531.2:p.Arg3287Cys;NP_001036188.1:p.Arg3287Cys 489164583 201276068 20110521_exome_255680_chr19_39008172 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 POPS 6261 NC_000019.9:g.39008181G>A;NG_008866.1:g.88842G>A;NM_000540.2:c.9868G>A;NM_001042723.1:c.9868G>A;NP_000531.2:p.Glu3290Lys;NP_001036188.1:p.Glu3290Lys 182258913 112151058 MHY13 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39008187C>T;NG_008866.1:g.88848C>T;NM_000540.2:c.9874C>T;NM_001042723.1:c.9874C>T;NP_000531.2:p.Pro3292Ser;NP_001036188.1:p.Pro3292Ser 342496604 144135230 ESP2500-chr19-39008187 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39008195C>T;NG_008866.1:g.88856C>T;NM_000540.2:c.9882C>T;NM_001042723.1:c.9882C>T;NP_000531.2:p.Ser3294=;NP_001036188.1:p.Ser3294= 340454677 142610625 20100804_snps_12098218_chr19_39008195 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39008195C>T;NG_008866.1:g.88856C>T;NM_000540.2:c.9882C>T;NM_001042723.1:c.9882C>T;NP_000531.2:p.Ser3294=;NP_001036188.1:p.Ser3294= 342496605 142610625 ESP2500-chr19-39008195 5.00e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008195C>T;NG_008866.1:g.88856C>T;NM_000540.2:c.9882C>T;NM_001042723.1:c.9882C>T;NP_000531.2:p.Ser3294=;NP_001036188.1:p.Ser3294= 491158088 142610625 20110521_exome_665886_chr19_39008195 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39008195C>T;NG_008866.1:g.88856C>T;NM_000540.2:c.9882C>T;NM_001042723.1:c.9882C>T;NP_000531.2:p.Ser3294=;NP_001036188.1:p.Ser3294= 491766252 142610625 SNV-chr19-43700035 5.00e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39008218C>A;NG_008866.1:g.88879C>A;NM_000540.2:c.9905C>A;NM_001042723.1:c.9905C>A;NP_000531.2:p.Pro3302Gln;NP_001036188.1:p.Pro3302Gln 342496606 139289204 ESP2500-chr19-39008218 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39008284T>C;NG_008866.1:g.88945T>C;NM_000540.2:c.9971T>C;NM_001042723.1:c.9971T>C;NP_000531.2:p.Val3324Ala;NP_001036188.1:p.Val3324Ala 342496607 141515745 ESP2500-chr19-39008284 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39008322C>G;NG_008866.1:g.88983C>G;NM_000540.2:c.10009C>G;NM_001042723.1:c.10009C>G;NP_000531.2:p.Arg3337Gly;NP_001036188.1:p.Arg3337Gly 489164585 200296387 20110521_exome_255681_chr19_39008322 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 1321501 892052 TSC0163197 2.14e-01 2000.09.06 2004.10.30 2000.10.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 4113609 892052 AC011469.6_104094 2.14e-01 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 80967103 892052 Cor18507_SNV_20070510.chr19_43700338 2.14e-01 2007.11.27 2007.11.27 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 111365891 892052 CEU.trio.12.15.2008_3616672_chr19_43700338 2.14e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 115120741 892052 NA19240_2008_12_16_3257632_chr19_43700338 2.14e-01 2008.12.19 2008.12.19 2000.10.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 117702662 892052 NA18507_000043921_NCBI36.1_chr19_43700338 2.14e-01 2009.01.20 2009.01.20 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 168183680 892052 NA07022_36_chr19_43700338 2.14e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 169708281 892052 NA19240_36_chr19_43700338 2.14e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 203751013 892052 BUSHMAN-chr19-43700337 2.14e-01 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 208524803 892052 BCM_CMT_1011-3132945 2.14e-01 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 228135856 892052 pilot_1_YRI_9945539_chr19_43700338 2.14e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 237674272 892052 pilot_1_CEU_7278901_chr19_43700338 2.14e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 243881048 892052 pilot_1_CHB+JPT_5766125_chr19_43700338 2.14e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 255668821 892052 SNP49710_19_43700338 2.14e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 283206058 892052 GMI_AK_SNP_7526479 2.14e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 483226797 892052 HumanOmni2.5-4v1_D_kgp3738152-0_T_F_1815961200 2.14e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39008498G>A;NG_008866.1:g.89159G>A;NM_000540.2:c.10018+167G>A;NM_001042723.1:c.10018+167G>A 483826021 892052 HumanOmni2.5-4v1_B_SNP19-43700338-0_T_F_1622820905 2.14e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008563T>C;NG_008866.1:g.89224T>C;NM_000540.2:c.10018+232T>C;NM_001042723.1:c.10018+232T>C 340454678 151021717 20100804_snps_12098219_chr19_39008563 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39008579C>G;NG_008866.1:g.89240C>G;NM_000540.2:c.10018+248C>G;NM_001042723.1:c.10018+248C>G 465586900 180917580 20101123_snps_11754130_chr19_39008579 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39008657G>T;NG_008866.1:g.89318G>T;NM_000540.2:c.10018+326G>T;NM_001042723.1:c.10018+326G>T 465586901 187018623 20101123_snps_11754131_chr19_39008657 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39008776C>T;NG_008866.1:g.89437C>T;NM_000540.2:c.10018+445C>T;NM_001042723.1:c.10018+445C>T 228135857 115180193 pilot_1_YRI_9945540_chr19_43700616 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008845A>C;NG_008866.1:g.89506A>C;NM_000540.2:c.10018+514A>C;NM_001042723.1:c.10018+514A>C 465586902 192260235 20101123_snps_11754132_chr19_39008845 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39008850_39008853delAGGA;NG_008866.1:g.89511_89514delAGGA;NM_000540.2:c.10018+519_10018+522delAGGA;NM_001042723.1:c.10018+519_10018+522delAGGA 96281044 74176446 1103691141874 2008.03.26 2008.03.26 2009.02.16 2011.09.09 137 PJP 6261 NC_000019.9:g.39008853_39008856delAAGG;NG_008866.1:g.89514_89517delAAGG;NM_000540.2:c.10018+522_10018+525delAAGG;NM_001042723.1:c.10018+522_10018+525delAAGG 294962542 150240224 DIP_400246_chr19_43700693 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39008879C>G;NG_008866.1:g.89540C>G;NM_000540.2:c.10018+548C>G;NM_001042723.1:c.10018+548C>G 465586903 184092961 20101123_snps_11754133_chr19_39008879 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39008882A>G;NG_008866.1:g.89543A>G;NM_000540.2:c.10018+551A>G;NM_001042723.1:c.10018+551A>G 340454679 140869938 20100804_snps_12098220_chr19_39008882 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39008897G>C;NG_008866.1:g.89558G>C;NM_000540.2:c.10018+566G>C;NM_001042723.1:c.10018+566G>C 340454680 150158699 20100804_snps_12098221_chr19_39008897 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39008935C>T;NG_008866.1:g.89596C>T;NM_000540.2:c.10018+604C>T;NM_001042723.1:c.10018+604C>T 203751014 111674970 BUSHMAN-chr19-43700774 3.70e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008935C>T;NG_008866.1:g.89596C>T;NM_000540.2:c.10018+604C>T;NM_001042723.1:c.10018+604C>T 340454681 111674970 20100804_snps_12098222_chr19_39008935 3.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39008954C>T;NG_008866.1:g.89615C>T;NM_000540.2:c.10018+623C>T;NM_001042723.1:c.10018+623C>T 465586904 185791680 20101123_snps_11754134_chr19_39008954 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39009004A>C;NG_008866.1:g.89665A>C;NM_000540.2:c.10018+673A>C;NM_001042723.1:c.10018+673A>C 465586905 190644644 20101123_snps_11754135_chr19_39009004 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 6261 NC_000019.9:g.39009039T>A;NG_008866.1:g.89700T>A;NM_000540.2:c.10018+708T>A;NM_001042723.1:c.10018+708T>A 90969973 62119051 JWB-2965865 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39009042delA;NG_008866.1:g.89703delA;NM_000540.2:c.10018+711delA;NM_001042723.1:c.10018+711delA 15153093 10714494 INDEL_GP34_WGS_251478 2003.11.13 2003.11.22 2003.12.05 2011.09.09 137 ABI 6261 NC_000019.9:g.39009042delA;NC_000019.9:g.39009042delAinsAAAAAAAA;NG_008866.1:g.89703delA;NG_008866.1:g.89703delAinsAAAAAAAA;NM_000540.2:c.10018+711delA;NM_000540.2:c.10018+711delAinsAAAAAAAA;NM_001042723.1:c.10018+711delA;NM_001042723.1:c.10018+711delAinsAAAAAAAA 41038413 34632766 hCV26218735 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39009042A>T;NG_008866.1:g.89703A>T;NM_000540.2:c.10018+711A>T;NM_001042723.1:c.10018+711A>T 90969975 63687561 JWB-1168217 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39009042delA;NG_008866.1:g.89703delA;NM_000540.2:c.10018+711delA;NM_001042723.1:c.10018+711delA 95728341 10714494 1104685411608 2008.03.23 2008.12.03 2003.12.05 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39009042delA;NG_008866.1:g.89703delA;NM_000540.2:c.10018+711delA;NM_001042723.1:c.10018+711delA 96281045 10714494 1103691141875 2008.03.26 2008.03.26 2003.12.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39009042A>T;NG_008866.1:g.89703A>T;NM_000540.2:c.10018+711A>T;NM_001042723.1:c.10018+711A>T 168183689 63687561 NA07022_36_chr19_43700882 2009.09.30 2009.09.30 2008.03.24 2011.09.09 137 BL 6261 NC_000019.9:g.39009042A>T;NG_008866.1:g.89703A>T;NM_000540.2:c.10018+711A>T;NM_001042723.1:c.10018+711A>T 255668826 63687561 SNP49711_19_43700882 2010.08.20 2010.08.20 2008.03.24 2011.09.09 137 GMI 6261 NC_000019.9:g.39009042delA;NC_000019.9:g.39009042delAinsAAAAAAAA;NG_008866.1:g.89703delA;NG_008866.1:g.89703delAinsAAAAAAAA;NM_000540.2:c.10018+711delA;NM_000540.2:c.10018+711delAinsAAAAAAAA;NM_001042723.1:c.10018+711delA;NM_001042723.1:c.10018+711delAinsAAAAAAAA 288525682 34632766 GMI_NA10851_INDEL_296302 2010.12.22 2010.12.22 2006.03.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39009042_39009049delAAAAAAAA;NG_008866.1:g.89703_89710delAAAAAAAA;NM_000540.2:c.10018+711_10018+718delAAAAAAAA;NM_001042723.1:c.10018+711_10018+718delAAAAAAAA 289387908 201838609 GMI_AK_INDEL_1065365 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 PJP 6261 NC_000019.9:g.39009042delA;NG_008866.1:g.89703delA;NM_000540.2:c.10018+711delA;NM_001042723.1:c.10018+711delA 294962543 10714494 DIP_400247_chr19_43700903 2011.01.22 2011.01.22 2003.12.05 2011.09.09 137 ILLUMINA 6261 NC_000019.9:g.39009064G>A;NG_008866.1:g.89725G>A;NM_000540.2:c.10018+733G>A;NM_001042723.1:c.10018+733G>A 482753257 201023702 HumanOmni2.5-4v1_D_kgp22783677-0_B_R_1860540189 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39009064G>A;NG_008866.1:g.89725G>A;NM_000540.2:c.10018+733G>A;NM_001042723.1:c.10018+733G>A 483826023 201023702 HumanOmni2.5-4v1_B_SNP19-43700904-0_B_R_1613165206 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 ABI 6261 NC_000019.9:g.39009065A>T;NG_008866.1:g.89726A>T;NM_000540.2:c.10018+734A>T;NM_001042723.1:c.10018+734A>T 40981943 34860001 hCV32823614 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39009212A>G;NG_008866.1:g.89873A>G;NM_000540.2:c.10019-642A>G;NM_001042723.1:c.10019-642A>G 465586906 182424365 20101123_snps_11754136_chr19_39009212 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39009585T>G;NG_008866.1:g.90246T>G;NM_000540.2:c.10019-269T>G;NM_001042723.1:c.10019-269T>G 111365896 73032604 CEU.trio.12.15.2008_3616673_chr19_43701425 1.05e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39009585T>G;NG_008866.1:g.90246T>G;NM_000540.2:c.10019-269T>G;NM_001042723.1:c.10019-269T>G 203751015 73032604 BUSHMAN-chr19-43701424 1.05e-01 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009585T>G;NG_008866.1:g.90246T>G;NM_000540.2:c.10019-269T>G;NM_001042723.1:c.10019-269T>G 228135858 73032604 pilot_1_YRI_9945541_chr19_43701425 1.05e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009585T>G;NG_008866.1:g.90246T>G;NM_000540.2:c.10019-269T>G;NM_001042723.1:c.10019-269T>G 237674273 73032604 pilot_1_CEU_7278902_chr19_43701425 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009585T>G;NG_008866.1:g.90246T>G;NM_000540.2:c.10019-269T>G;NM_001042723.1:c.10019-269T>G 243881049 73032604 pilot_1_CHB+JPT_5766126_chr19_43701425 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 96305713 71356810 1103691141877 2.25e-01 2008.03.26 2008.03.26 2009.02.13 2012.11.28 137 BGI 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 103437776 71356810 BGI_YHSNP0125970 2.25e-01 2008.06.06 2009.06.17 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 237674274 71356810 pilot_1_CEU_7278903_chr19_43701441 2.25e-01 2010.05.01 2010.05.01 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 243881050 71356810 pilot_1_CHB+JPT_5766127_chr19_43701441 2.25e-01 2010.05.01 2010.05.01 2009.02.13 2012.11.28 137 GMI 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 283206059 71356810 GMI_AK_SNP_7526480 2.25e-01 2010.12.16 2010.12.16 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.39009601C>T;NG_008866.1:g.90262C>T;NM_000540.2:c.10019-253C>T;NM_001042723.1:c.10019-253C>T 292248535 71356810 SNP_1754893_chr19_43701441 2.25e-01 2011.01.21 2011.01.21 2009.02.13 2012.11.28 137 HGSV 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 85795572 61361030 Cor19129_SNV_20070510.chr19_43701491 1.12e-01 2007.12.10 2007.12.10 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 115120747 61361030 NA19240_2008_12_16_3257633_chr19_43701491 1.12e-01 2008.12.19 2008.12.19 2007.12.16 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 117702664 61361030 NA18507_000043922_NCBI36.1_chr19_43701491 1.12e-01 2009.01.20 2009.01.20 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 168183702 61361030 NA07022_36_chr19_43701491 1.12e-01 2009.09.30 2009.09.30 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 169708302 61361030 NA19240_36_chr19_43701491 1.12e-01 2009.10.01 2009.10.01 2007.12.16 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 203751016 61361030 BUSHMAN-chr19-43701490 1.12e-01 2010.03.09 2010.03.09 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 228135859 61361030 pilot_1_YRI_9945542_chr19_43701491 1.12e-01 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39009651C>T;NG_008866.1:g.90312C>T;NM_000540.2:c.10019-203C>T;NM_001042723.1:c.10019-203C>T 237674275 61361030 pilot_1_CEU_7278904_chr19_43701491 1.12e-01 2010.05.01 2010.05.01 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39009692G>A;NG_008866.1:g.90353G>A;NM_000540.2:c.10019-162G>A;NM_001042723.1:c.10019-162G>A 340454682 140209996 20100804_snps_12098223_chr19_39009692 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39009825T>C;NG_008866.1:g.90486T>C;NM_000540.2:c.10019-29T>C;NM_001042723.1:c.10019-29T>C 489164587 202149131 20110521_exome_255682_chr19_39009825 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009841C>T;NG_008866.1:g.90502C>T;NM_000540.2:c.10019-13C>T;NM_001042723.1:c.10019-13C>T 340454683 145359160 20100804_snps_12098224_chr19_39009841 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009841C>T;NG_008866.1:g.90502C>T;NM_000540.2:c.10019-13C>T;NM_001042723.1:c.10019-13C>T 491158089 145359160 20110521_exome_665887_chr19_39009841 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009860C>T;NG_008866.1:g.90521C>T;NM_000540.2:c.10025C>T;NM_001042723.1:c.10025C>T;NP_000531.2:p.Ala3342Val;NP_001036188.1:p.Ala3342Val 489164589 201501834 20110521_exome_255683_chr19_39009860 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39009860C>T;NG_008866.1:g.90521C>T;NM_000540.2:c.10025C>T;NM_001042723.1:c.10025C>T;NP_000531.2:p.Ala3342Val;NP_001036188.1:p.Ala3342Val 491546494 201501834 nonsyn_262720_chr_19_39009860 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 MHVIENNA 6261 NM_000540.2:c.10042C>G NC_000019.9:g.39009877C>G;NG_008866.1:g.90538C>G;NM_000540.2:c.10042C>G;NM_001042723.1:c.10042C>G;NP_000531.2:p.Arg3348Gly;NP_001036188.1:p.Arg3348Gly 252841649 118204421 3348 arg>cys somatic probable-pathogenic 2010.08.12 2010.08.12 2010.08.12 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.10043G>A NC_000019.9:g.39009878G>A;NG_008866.1:g.90539G>A;NM_000540.2:c.10043G>A;NM_001042723.1:c.10043G>A;NP_000531.2:p.Arg3348His;NP_001036188.1:p.Arg3348His 475871638 193922834 RYR1_00205 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 CLINSEQ_SNP 6261 NC_000019.9:g.39009881C>G;NG_008866.1:g.90542C>G;NM_000540.2:c.10046C>G;NM_001042723.1:c.10046C>G;NP_000531.2:p.Ala3349Gly;NP_001036188.1:p.Ala3349Gly 491766253 199531105 SNV-chr19-43701721 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009883C>A;NG_008866.1:g.90544C>A;NM_000540.2:c.10048C>A;NM_001042723.1:c.10048C>A;NP_000531.2:p.Arg3350=;NP_001036188.1:p.Arg3350= 489164591 200355885 20110521_exome_255684_chr19_39009883 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10086C>T NC_000019.9:g.39009921C>T;NG_008866.1:g.90582C>T;NM_000540.2:c.10086C>T;NM_001042723.1:c.10086C>T;NP_000531.2:p.Ile3362=;NP_001036188.1:p.Ile3362= 475871639 193922835 RYR1_00277 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39009932G>A;NG_008866.1:g.90593G>A;NM_000540.2:c.10097G>A;NM_001042723.1:c.10097G>A;NP_000531.2:p.Arg3366His;NP_001036188.1:p.Arg3366His 340454684 137932199 20100804_snps_12098225_chr19_39009932 3.70e-03 germline untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39009932G>A;NG_008866.1:g.90593G>A;NM_000540.2:c.10097G>A;NM_001042723.1:c.10097G>A;NP_000531.2:p.Arg3366His;NP_001036188.1:p.Arg3366His 342496608 137932199 ESP2500-chr19-39009932 3.70e-03 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10097G>A NC_000019.9:g.39009932G>A;NG_008866.1:g.90593G>A;NM_000540.2:c.10097G>A;NM_001042723.1:c.10097G>A;NP_000531.2:p.Arg3366His;NP_001036188.1:p.Arg3366His 475871640 137932199 RYR1_00259 3.70e-03 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009932G>A;NG_008866.1:g.90593G>A;NM_000540.2:c.10097G>A;NM_001042723.1:c.10097G>A;NP_000531.2:p.Arg3366His;NP_001036188.1:p.Arg3366His 491158090 137932199 20110521_exome_665888_chr19_39009932 3.70e-03 germline untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39009932G>A;NG_008866.1:g.90593G>A;NM_000540.2:c.10097G>A;NM_001042723.1:c.10097G>A;NP_000531.2:p.Arg3366His;NP_001036188.1:p.Arg3366His 491546495 137932199 nonsyn_262721_chr_19_39009932 3.70e-03 germline untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.10100A>G NC_000019.9:g.39009935A>G;NG_008866.1:g.90596A>G;NM_000540.2:c.10100A>G;NM_001042723.1:c.10100A>G;NP_000531.2:p.Lys3367Arg;NP_001036188.1:p.Lys3367Arg 252444694 118192126 CCORE_18 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10100A>G NC_000019.9:g.39009935A>G;NG_008866.1:g.90596A>G;NM_000540.2:c.10100A>G;NM_001042723.1:c.10100A>G;NP_000531.2:p.Lys3367Arg;NP_001036188.1:p.Lys3367Arg 475871641 118192126 RYR1_00133 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009954G>A;NG_008866.1:g.90615G>A;NM_000540.2:c.10119G>A;NM_001042723.1:c.10119G>A;NP_000531.2:p.Val3373=;NP_001036188.1:p.Val3373= 340454685 140689610 20100804_snps_12098226_chr19_39009954 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39009954G>A;NG_008866.1:g.90615G>A;NM_000540.2:c.10119G>A;NM_001042723.1:c.10119G>A;NP_000531.2:p.Val3373=;NP_001036188.1:p.Val3373= 342496609 140689610 ESP2500-chr19-39009954 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39009954G>A;NG_008866.1:g.90615G>A;NM_000540.2:c.10119G>A;NM_001042723.1:c.10119G>A;NP_000531.2:p.Val3373=;NP_001036188.1:p.Val3373= 491158091 140689610 20110521_exome_665889_chr19_39009954 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010008G>A;NG_008866.1:g.90669G>A;NM_000540.2:c.10173G>A;NM_001042723.1:c.10173G>A;NP_000531.2:p.Glu3391=;NP_001036188.1:p.Glu3391= 489164593 199765885 20110521_exome_255685_chr19_39010008 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 WICVAR 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 3176134 2229145 WIAF-14812 3.80e-02 germline untested 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 52073907 2229145 NT_011109.15_11278241 3.80e-02 germline untested 2006.03.29 2006.03.29 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 75095204 2229145 ILMN_Human_1M_rs2229145 3.80e-02 germline untested 2007.08.29 2007.08.29 2001.08.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 119421972 2229145 KHS1584219 3.80e-02 unknown untested 2009.02.04 2009.02.04 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 160517352 2229145 HumanOmni1-Quad_v1-0_B_rs2229145-98_T_R_1514078244 3.80e-02 germline untested 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 168183712 2229145 NA07022_36_chr19_43701863 3.80e-02 germline untested 2009.09.30 2009.09.30 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 173192968 2229145 Human1M-Duov3_B_rs2229145-98_T_R_1514078244 3.80e-02 germline untested 2009.10.03 2009.10.03 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 237674276 2229145 pilot_1_CEU_7278905_chr19_43701863 3.80e-02 germline untested 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 BL 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 255668831 2229145 SNP49712_19_43701863 3.80e-02 unknown untested 2010.08.20 2010.08.20 2001.08.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 342496610 2229145 ESP2500-chr19-39010023 3.80e-02 germline untested 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10188C>T NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 475871642 2229145 RYR1_00037 3.80e-02 germline untested 2011.11.25 2011.11.25 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 480472028 2229145 HumanOmni2.5-4v1_B_rs2229145-128_T_R_1562413371 3.80e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 480486363 2229145 HumanOmniExpress-12v1_C_rs2229145-131_T_R_1858002086 3.80e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 481283717 2229145 HumanOmni1-Quad_v1-0_C_rs2229145-131_T_R_1857157525 3.80e-02 germline untested 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 485033490 2229145 HumanOmni2.5-4v1_D_rs2229145-131_T_R_1858002086 3.80e-02 germline untested 2012.02.04 2012.02.04 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 491158092 2229145 20110521_exome_665890_chr19_39010023 3.80e-02 unknown untested 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39010023C>T;NG_008866.1:g.90684C>T;NM_000540.2:c.10188C>T;NM_001042723.1:c.10188C>T;NP_000531.2:p.Asp3396=;NP_001036188.1:p.Asp3396= 491766254 2229145 SNV-chr19-43701863 3.80e-02 germline untested 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010024G>A;NG_008866.1:g.90685G>A;NM_000540.2:c.10189G>A;NM_001042723.1:c.10189G>A;NP_000531.2:p.Glu3397Lys;NP_001036188.1:p.Glu3397Lys 489164595 201339536 20110521_exome_255686_chr19_39010024 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39010024G>A;NG_008866.1:g.90685G>A;NM_000540.2:c.10189G>A;NM_001042723.1:c.10189G>A;NP_000531.2:p.Glu3397Lys;NP_001036188.1:p.Glu3397Lys 491546496 201339536 nonsyn_262722_chr_19_39010024 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39010039T>G;NG_008866.1:g.90700T>G;NM_000540.2:c.10204T>G;NM_001042723.1:c.10204T>G;NP_000531.2:p.Cys3402Gly;NP_001036188.1:p.Cys3402Gly 342496611 145944224 ESP2500-chr19-39010039 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 SI_EXO 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 52059315 41274330 NT_011109.15_11278271 6.64e-02 unknown untested 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 CORNELL 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 86247660 41274330 hCV25630425 6.64e-02 unknown untested 2008.01.21 2010.09.29 2006.10.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 111365909 41274330 CEU.trio.12.15.2008_3616674_chr19_43701893 6.64e-02 germline untested 2008.12.17 2008.12.17 2006.10.18 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 159739641 41274330 RYR1-43701893 6.64e-02 germline untested 2009.07.10 2009.07.10 2006.10.18 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 208437578 41274330 BCM_CMT_1011-3103367 6.64e-02 germline untested 2010.03.19 2010.03.19 2006.10.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 237674277 41274330 pilot_1_CEU_7278906_chr19_43701893 6.64e-02 germline untested 2010.05.01 2010.05.01 2006.10.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 243881051 41274330 pilot_1_CHB+JPT_5766128_chr19_43701893 6.64e-02 unknown untested 2010.05.01 2010.05.01 2006.10.18 2012.11.28 137 GMI 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 283206060 41274330 GMI_AK_SNP_7526481 6.64e-02 germline untested 2010.12.16 2010.12.16 2006.10.18 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 342496612 41274330 ESP2500-chr19-39010053 6.64e-02 germline untested 2011.03.27 2011.03.27 2006.10.18 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10218C>T NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 475871643 41274330 RYR1_00015 6.64e-02 germline untested 2011.11.25 2011.11.25 2006.10.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 483826025 41274330 HumanOmni2.5-4v1_B_SNP19-43701893-0_T_R_1628421266 6.64e-02 germline untested 2012.02.03 2012.02.03 2006.10.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 484205794 41274330 HumanOmni2.5-4v1_D_kgp9071035-0_T_R_1815957137 6.64e-02 unknown untested 2012.02.03 2012.02.03 2006.10.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 491158093 41274330 20110521_exome_665891_chr19_39010053 6.64e-02 unknown untested 2012.02.22 2012.02.22 2006.10.18 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39010053C>T;NG_008866.1:g.90714C>T;NM_000540.2:c.10218C>T;NM_001042723.1:c.10218C>T;NP_000531.2:p.Tyr3406=;NP_001036188.1:p.Tyr3406= 491766255 41274330 SNV-chr19-43701893 6.64e-02 germline untested 2012.03.07 2012.03.13 2006.10.18 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39010054G>A;NG_008866.1:g.90715G>A;NM_000540.2:c.10219G>A;NM_001042723.1:c.10219G>A;NP_000531.2:p.Ala3407Thr;NP_001036188.1:p.Ala3407Thr 342496613 143533100 ESP2500-chr19-39010054 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39010069C>T;NG_008866.1:g.90730C>T;NM_000540.2:c.10234C>T;NM_001042723.1:c.10234C>T;NP_000531.2:p.Leu3412Phe;NP_001036188.1:p.Leu3412Phe 342496614 146754065 ESP2500-chr19-39010069 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39010075C>T;NG_008866.1:g.90736C>T;NM_000540.2:c.10240C>T;NM_001042723.1:c.10240C>T;NP_000531.2:p.Arg3414Cys;NP_001036188.1:p.Arg3414Cys 342496615 148892609 ESP2500-chr19-39010075 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39010075C>T;NG_008866.1:g.90736C>T;NM_000540.2:c.10240C>T;NM_001042723.1:c.10240C>T;NP_000531.2:p.Arg3414Cys;NP_001036188.1:p.Arg3414Cys 491546497 148892609 nonsyn_262723_chr_19_39010075 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39010076G>A;NG_008866.1:g.90737G>A;NM_000540.2:c.10241G>A;NM_001042723.1:c.10241G>A;NP_000531.2:p.Arg3414His;NP_001036188.1:p.Arg3414His 342496616 142618623 ESP2500-chr19-39010076 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39010096T>G;NG_008866.1:g.90757T>G;NM_000540.2:c.10259+2T>G;NM_001042723.1:c.10259+2T>G 169117261 112899563 Human1M-Duov3_B_GA034493-0_B_F_1533481448 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39010101G>A;NG_008866.1:g.90762G>A;NM_000540.2:c.10259+7G>A;NM_001042723.1:c.10259+7G>A 340454686 143752962 20100804_snps_12098227_chr19_39010101 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010101G>A;NG_008866.1:g.90762G>A;NM_000540.2:c.10259+7G>A;NM_001042723.1:c.10259+7G>A 491158094 143752962 20110521_exome_665892_chr19_39010101 8.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39010101G>A;NG_008866.1:g.90762G>A;NM_000540.2:c.10259+7G>A;NM_001042723.1:c.10259+7G>A 491766256 143752962 SNV-chr19-43701941 8.70e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010104G>A;NG_008866.1:g.90765G>A;NM_000540.2:c.10259+10G>A;NM_001042723.1:c.10259+10G>A 465586907 187018043 20101123_snps_11754137_chr19_39010104 7.30e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010104G>A;NG_008866.1:g.90765G>A;NM_000540.2:c.10259+10G>A;NM_001042723.1:c.10259+10G>A 491158095 187018043 20110521_exome_665893_chr19_39010104 7.30e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010132G>A;NG_008866.1:g.90793G>A;NM_000540.2:c.10259+38G>A;NM_001042723.1:c.10259+38G>A 465586908 192163251 20101123_snps_11754138_chr19_39010132 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010132G>A;NG_008866.1:g.90793G>A;NM_000540.2:c.10259+38G>A;NM_001042723.1:c.10259+38G>A 491158096 192163251 20110521_exome_665894_chr19_39010132 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010274C>A;NG_008866.1:g.90935C>A;NM_000540.2:c.10259+180C>A;NM_001042723.1:c.10259+180C>A 465586909 182789205 20101123_snps_11754139_chr19_39010274 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39010277A>G;NG_008866.1:g.90938A>G;NM_000540.2:c.10259+183A>G;NM_001042723.1:c.10259+183A>G 465586910 187766150 20101123_snps_11754140_chr19_39010277 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 4171559 2960327 AC091486.2_24399 1.82e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 117702666 2960327 NA18507_000043923_NCBI36.1_chr19_43702151 1.82e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 168183723 2960327 NA07022_36_chr19_43702151 1.82e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 169708323 2960327 NA19240_36_chr19_43702151 1.82e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 228135860 2960327 pilot_1_YRI_9945543_chr19_43702151 1.82e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 237674278 2960327 pilot_1_CEU_7278907_chr19_43702151 1.82e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 243881052 2960327 pilot_1_CHB+JPT_5766129_chr19_43702151 1.82e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 255668835 2960327 SNP49713_19_43702151 1.82e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39010311T>G;NG_008866.1:g.90972T>G;NM_000540.2:c.10259+217T>G;NM_001042723.1:c.10259+217T>G 283206061 2960327 GMI_AK_SNP_7526482 1.82e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39010319T>G;NG_008866.1:g.90980T>G;NM_000540.2:c.10259+225T>G;NM_001042723.1:c.10259+225T>G 137670436 78412249 ENSSNP11444350 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39010381C>T;NG_008866.1:g.91042C>T;NM_000540.2:c.10259+287C>T;NM_001042723.1:c.10259+287C>T 465586911 193230940 20101123_snps_11754141_chr19_39010381 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39010517C>A;NG_008866.1:g.91178C>A;NM_000540.2:c.10259+423C>A;NM_001042723.1:c.10259+423C>A 465586912 185687067 20101123_snps_11754142_chr19_39010517 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39010599G>A;NG_008866.1:g.91260G>A;NM_000540.2:c.10259+505G>A;NM_001042723.1:c.10259+505G>A 79055488 55736356 Cor18507_SNV_20070510.chr19_43702439 1.60e-02 2007.10.22 2007.10.22 2007.12.06 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39010599G>A;NG_008866.1:g.91260G>A;NM_000540.2:c.10259+505G>A;NM_001042723.1:c.10259+505G>A 117702668 55736356 NA18507_000043924_NCBI36.1_chr19_43702439 1.60e-02 2009.01.20 2009.01.20 2007.12.06 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39010599G>A;NG_008866.1:g.91260G>A;NM_000540.2:c.10259+505G>A;NM_001042723.1:c.10259+505G>A 203751017 55736356 BUSHMAN-chr19-43702438 1.60e-02 2010.03.09 2010.03.09 2007.12.06 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39010599G>A;NG_008866.1:g.91260G>A;NM_000540.2:c.10259+505G>A;NM_001042723.1:c.10259+505G>A 340454687 55736356 20100804_snps_12098228_chr19_39010599 1.60e-02 2011.03.22 2011.03.22 2007.12.06 2011.09.09 137 HGSV 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 82326517 60909679 Cor18555_SNV_20070510.chr19_43702471 9.94e-02 2007.12.02 2007.12.02 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 111365920 60909679 CEU.trio.12.15.2008_3616676_chr19_43702471 9.94e-02 2008.12.17 2008.12.17 2007.12.16 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 208522877 60909679 BCM_CMT_1011-3132302 9.94e-02 2010.03.19 2010.03.19 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 228135861 60909679 pilot_1_YRI_9945544_chr19_43702471 9.94e-02 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 237674279 60909679 pilot_1_CEU_7278908_chr19_43702471 9.94e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 243881053 60909679 pilot_1_CHB+JPT_5766130_chr19_43702471 9.94e-02 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.39010631T>A;NG_008866.1:g.91292T>A;NM_000540.2:c.10259+537T>A;NM_001042723.1:c.10259+537T>A 283206062 60909679 GMI_AK_SNP_7526483 9.94e-02 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39010731A>T;NG_008866.1:g.91392A>T;NM_000540.2:c.10259+637A>T;NM_001042723.1:c.10259+637A>T 117702670 77742569 NA18507_000043925_NCBI36.1_chr19_43702571 2009.01.20 2009.01.20 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39010870G>C;NG_008866.1:g.91531G>C;NM_000540.2:c.10259+776G>C;NM_001042723.1:c.10259+776G>C 465586913 188936854 20101123_snps_11754143_chr19_39010870 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39010971G>A;NG_008866.1:g.91632G>A;NM_000540.2:c.10259+877G>A;NM_001042723.1:c.10259+877G>A 340454688 142017055 20100804_snps_12098229_chr19_39010971 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39011008delT;NG_008866.1:g.91669delT;NM_000540.2:c.10259+914delT;NM_001042723.1:c.10259+914delT 41046780 34261000 hCV32823615 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39011008delT;NG_008866.1:g.91669delT;NM_000540.2:c.10259+914delT;NM_001042723.1:c.10259+914delT 95728342 34261000 1104685411609 2008.03.23 2008.12.03 2006.03.13 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39011009T>C;NG_008866.1:g.91670T>C;NM_000540.2:c.10259+915T>C;NM_001042723.1:c.10259+915T>C 137670438 79619004 ENSSNP11444351 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39011141C>G;NG_008866.1:g.91802C>G;NM_000540.2:c.10259+1047C>G;NM_001042723.1:c.10259+1047C>G 340454689 150685379 20100804_snps_12098230_chr19_39011141 2.61e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39011203C>T;NG_008866.1:g.91864C>T;NM_000540.2:c.10259+1109C>T;NM_001042723.1:c.10259+1109C>T 465586914 192250223 20101123_snps_11754144_chr19_39011203 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39011204G>A;NG_008866.1:g.91865G>A;NM_000540.2:c.10259+1110G>A;NM_001042723.1:c.10259+1110G>A 340454690 139037483 20100804_snps_12098231_chr19_39011204 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39011316A>T;NG_008866.1:g.91977A>T;NM_000540.2:c.10259+1222A>T;NM_001042723.1:c.10259+1222A>T 137670442 75639719 ENSSNP11444352 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39011334delA;NC_000019.9:g.39011334delAinsAAAA;NG_008866.1:g.91995delA;NG_008866.1:g.91995delAinsAAAA;NM_000540.2:c.10259+1240delA;NM_000540.2:c.10259+1240delAinsAAAA;NM_001042723.1:c.10259+1240delA;NM_001042723.1:c.10259+1240delAinsAAAA 95728343 71165555 1104685411610 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39011401A>G;NG_008866.1:g.92062A>G;NM_000540.2:c.10259+1307A>G;NM_001042723.1:c.10259+1307A>G 465586915 183987581 20101123_snps_11754145_chr19_39011401 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39011482C>T;NG_008866.1:g.92143C>T;NM_000540.2:c.10259+1388C>T;NM_001042723.1:c.10259+1388C>T 340454691 142954935 20100804_snps_12098232_chr19_39011482 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39011650T>A;NG_008866.1:g.92311T>A;NM_000540.2:c.10259+1556T>A;NM_001042723.1:c.10259+1556T>A 340454692 147493512 20100804_snps_12098233_chr19_39011650 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39011668A>G;NG_008866.1:g.92329A>G;NM_000540.2:c.10259+1574A>G;NM_001042723.1:c.10259+1574A>G 465586916 188719166 20101123_snps_11754146_chr19_39011668 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39011762_39011764delAAG;NG_008866.1:g.92423_92425delAAG;NM_000540.2:c.10259+1668_10259+1670delAAG;NM_001042723.1:c.10259+1668_10259+1670delAAG 327903802 149132589 JPTCHB_chr19_43703601_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39011906C>A;NG_008866.1:g.92567C>A;NM_000540.2:c.10260-1762C>A;NM_001042723.1:c.10260-1762C>A 169708341 111349451 NA19240_36_chr19_43703746 4.99e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39011906C>A;NG_008866.1:g.92567C>A;NM_000540.2:c.10260-1762C>A;NM_001042723.1:c.10260-1762C>A 228135862 111349451 pilot_1_YRI_9945545_chr19_43703746 4.99e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39011945delT;NG_008866.1:g.92606delT;NM_000540.2:c.10260-1723delT;NM_001042723.1:c.10260-1723delT 499576385 201952928 20110316_indels_chr19_39011944_39011944 4.10e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 117702673 73544610 NA18507_000043926_NCBI36.1_chr19_43703896 1.18e-01 2009.01.20 2009.01.20 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 168183736 73544610 NA07022_36_chr19_43703896 1.18e-01 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 169708363 73544610 NA19240_36_chr19_43703896 1.18e-01 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 203751018 73544610 BUSHMAN-chr19-43703895 1.18e-01 2010.03.09 2010.03.09 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 228135863 73544610 pilot_1_YRI_9945546_chr19_43703896 1.18e-01 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 237674281 73544610 pilot_1_CEU_7278910_chr19_43703896 1.18e-01 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 BL 6261 NC_000019.9:g.39012056G>A;NG_008866.1:g.92717G>A;NM_000540.2:c.10260-1612G>A;NM_001042723.1:c.10260-1612G>A 255668842 73544610 SNP49714_19_43703896 1.18e-01 2010.08.20 2010.08.20 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39012142A>G;NG_008866.1:g.92803A>G;NM_000540.2:c.10260-1526A>G;NM_001042723.1:c.10260-1526A>G 228135864 114489216 pilot_1_YRI_9945547_chr19_43703982 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39012312G>A;NG_008866.1:g.92973G>A;NM_000540.2:c.10260-1356G>A;NM_001042723.1:c.10260-1356G>A 169708385 112231089 NA19240_36_chr19_43704152 1.16e-01 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39012312G>A;NG_008866.1:g.92973G>A;NM_000540.2:c.10260-1356G>A;NM_001042723.1:c.10260-1356G>A 255668847 112231089 SNP49715_19_43704152 1.16e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39012312G>A;NG_008866.1:g.92973G>A;NM_000540.2:c.10260-1356G>A;NM_001042723.1:c.10260-1356G>A 340454693 112231089 20100804_snps_12098234_chr19_39012312 1.16e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39012347A>G;NG_008866.1:g.93008A>G;NM_000540.2:c.10260-1321A>G;NM_001042723.1:c.10260-1321A>G 465586917 181438482 20101123_snps_11754147_chr19_39012347 1.56e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 6261 NC_000019.9:g.39012356delT;NC_000019.9:g.39012356delTinsTTT;NG_008866.1:g.93017delT;NG_008866.1:g.93017delTinsTTT;NM_000540.2:c.10260-1312delT;NM_000540.2:c.10260-1312delTinsTTT;NM_001042723.1:c.10260-1312delT;NM_001042723.1:c.10260-1312delTinsTTT 103616563 76100552 JWB-4066190 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.39012356T>A;NG_008866.1:g.93017T>A;NM_000540.2:c.10260-1312T>A;NM_001042723.1:c.10260-1312T>A 283206063 186080753 GMI_AK_SNP_7526484 9.80e-02 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39012356T>A;NG_008866.1:g.93017T>A;NM_000540.2:c.10260-1312T>A;NM_001042723.1:c.10260-1312T>A 465586918 186080753 20101123_snps_11754148_chr19_39012356 9.80e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 GMI 6261 NC_000019.9:g.39012357T>A;NG_008866.1:g.93018T>A;NM_000540.2:c.10260-1311T>A;NM_001042723.1:c.10260-1311T>A 283206064 201476558 GMI_AK_SNP_7526485 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39012408G>A;NG_008866.1:g.93069G>A;NM_000540.2:c.10260-1260G>A;NM_001042723.1:c.10260-1260G>A 465586919 189294516 20101123_snps_11754149_chr19_39012408 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39012497C>T;NG_008866.1:g.93158C>T;NM_000540.2:c.10260-1171C>T;NM_001042723.1:c.10260-1171C>T 465586920 182332858 20101123_snps_11754150_chr19_39012497 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39012549C>T;NG_008866.1:g.93210C>T;NM_000540.2:c.10260-1119C>T;NM_001042723.1:c.10260-1119C>T 465586921 186345394 20101123_snps_11754151_chr19_39012549 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39012583C>T;NG_008866.1:g.93244C>T;NM_000540.2:c.10260-1085C>T;NM_001042723.1:c.10260-1085C>T 465586922 190306333 20101123_snps_11754152_chr19_39012583 8.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39012712G>A;NG_008866.1:g.93373G>A;NM_000540.2:c.10260-956G>A;NM_001042723.1:c.10260-956G>A 465586923 181571612 20101123_snps_11754153_chr19_39012712 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39012818T>C;NG_008866.1:g.93479T>C;NM_000540.2:c.10260-850T>C;NM_001042723.1:c.10260-850T>C 79776171 58350220 Cor18507_SNV_20070510.chr19_43704658 1.60e-02 2007.11.23 2007.11.23 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39012818T>C;NG_008866.1:g.93479T>C;NM_000540.2:c.10260-850T>C;NM_001042723.1:c.10260-850T>C 117702675 58350220 NA18507_000043927_NCBI36.1_chr19_43704658 1.60e-02 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39012818T>C;NG_008866.1:g.93479T>C;NM_000540.2:c.10260-850T>C;NM_001042723.1:c.10260-850T>C 228135865 58350220 pilot_1_YRI_9945548_chr19_43704658 1.60e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39012827T>C;NG_008866.1:g.93488T>C;NM_000540.2:c.10260-841T>C;NM_001042723.1:c.10260-841T>C 137670444 74630301 ENSSNP11444353 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39012848G>A;NG_008866.1:g.93509G>A;NM_000540.2:c.10260-820G>A;NM_001042723.1:c.10260-820G>A 228135866 115944417 pilot_1_YRI_9945549_chr19_43704688 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39012929T>C;NG_008866.1:g.93590T>C;NM_000540.2:c.10260-739T>C;NM_001042723.1:c.10260-739T>C 340454694 149937738 20100804_snps_12098235_chr19_39012929 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39013067C>A;NG_008866.1:g.93728C>A;NM_000540.2:c.10260-601C>A;NM_001042723.1:c.10260-601C>A 465586924 186017972 20101123_snps_11754154_chr19_39013067 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 4151670 2945047 AC067969.1_3399 2.18e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 78636917 2945047 Cor18507_SNV_20070510.chr19_43704935 2.18e-01 2007.10.20 2007.10.20 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 111365932 2945047 CEU.trio.12.15.2008_3616677_chr19_43704935 2.18e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 117702677 2945047 NA18507_000043928_NCBI36.1_chr19_43704935 2.18e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 168183748 2945047 NA07022_36_chr19_43704935 2.18e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 169708407 2945047 NA19240_36_chr19_43704935 2.18e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 211962642 2945047 YRI.trio.3.2010_1440258_chr19_43704935 2.18e-01 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 228135867 2945047 pilot_1_YRI_9945550_chr19_43704935 2.18e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 237674282 2945047 pilot_1_CEU_7278911_chr19_43704935 2.18e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 243881055 2945047 pilot_1_CHB+JPT_5766132_chr19_43704935 2.18e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39013095C>A;NG_008866.1:g.93756C>A;NM_000540.2:c.10260-573C>A;NM_001042723.1:c.10260-573C>A 283206065 2945047 GMI_AK_SNP_7526486 2.18e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013197G>A;NG_008866.1:g.93858G>A;NM_000540.2:c.10260-471G>A;NM_001042723.1:c.10260-471G>A 465586925 191404887 20101123_snps_11754155_chr19_39013197 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39013261_39013262insAG;NC_000019.9:g.39013261_39013262insGA;NG_008866.1:g.93922_93923insAG;NG_008866.1:g.93922_93923insGA;NM_000540.2:c.10260-407_10260-406insAG;NM_000540.2:c.10260-407_10260-406insGA;NM_001042723.1:c.10260-407_10260-406insAG;NM_001042723.1:c.10260-407_10260-406insGA 40968886 34878100 hCV32823616 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013261_39013262insAG;NC_000019.9:g.39013261_39013262insGA;NG_008866.1:g.93922_93923insAG;NG_008866.1:g.93922_93923insGA;NM_000540.2:c.10260-407_10260-406insAG;NM_000540.2:c.10260-407_10260-406insGA;NM_001042723.1:c.10260-407_10260-406insAG;NM_001042723.1:c.10260-407_10260-406insGA 328276247 34878100 YRI_chr19_43705100_indel 2011.03.13 2011.04.04 2006.03.14 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 4113610 2915945 AC011469.6_108921 3.11e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 40987046 2915945 hCV32823617 3.11e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 81013840 2915945 Cor18507_SNV_20070510.chr19_43705165 3.11e-01 2007.11.27 2007.11.27 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 90969977 2915945 JWB-1168218 3.11e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 96305714 2915945 1103691141879 3.11e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 137670447 2915945 ENSSNP6128066 3.11e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 142843742 2915945 ENSSNP4750883 3.11e-01 2009.06.05 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 168183759 2915945 NA07022_36_chr19_43705165 3.11e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 169708433 2915945 NA19240_36_chr19_43705165 3.11e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 203751019 2915945 BUSHMAN-chr19-43705164 3.11e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 208512549 2915945 BCM_CMT_1011-3128721 3.11e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 255668851 2915945 SNP49716_19_43705165 3.11e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 283206066 2915945 GMI_AK_SNP_7526487 3.11e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 292248536 2915945 SNP_1754894_chr19_43705165 3.11e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013325T>C;NG_008866.1:g.93986T>C;NM_000540.2:c.10260-343T>C;NM_001042723.1:c.10260-343T>C 340454695 2915945 20100804_snps_12098236_chr19_39013325 3.11e-01 2011.03.22 2011.03.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013342C>G;NG_008866.1:g.94003C>G;NM_000540.2:c.10260-326C>G;NM_001042723.1:c.10260-326C>G 465586926 183115324 20101123_snps_11754156_chr19_39013342 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39013454G>C;NG_008866.1:g.94115G>C;NM_000540.2:c.10260-214G>C;NM_001042723.1:c.10260-214G>C 203751020 111975718 BUSHMAN-chr19-43705293 9.66e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013454G>C;NG_008866.1:g.94115G>C;NM_000540.2:c.10260-214G>C;NM_001042723.1:c.10260-214G>C 237674283 111975718 pilot_1_CEU_7278912_chr19_43705294 9.66e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39013454G>C;NG_008866.1:g.94115G>C;NM_000540.2:c.10260-214G>C;NM_001042723.1:c.10260-214G>C 283206067 111975718 GMI_AK_SNP_7526488 9.66e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39013500delA;NC_000019.9:g.39013500delAinsAAAA;NG_008866.1:g.94161delA;NG_008866.1:g.94161delAinsAAAA;NM_000540.2:c.10260-168delA;NM_000540.2:c.10260-168delAinsAAAA;NM_001042723.1:c.10260-168delA;NM_001042723.1:c.10260-168delAinsAAAA 288525684 148407028 GMI_NA10851_INDEL_296303 2010.12.22 2010.12.22 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39013500_39013503delAAAA;NG_008866.1:g.94161_94164delAAAA;NM_000540.2:c.10260-168_10260-165delAAAA;NM_001042723.1:c.10260-168_10260-165delAAAA 327903806 145400994 JPTCHB_chr19_43705339_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013500_39013503delAAAA;NG_008866.1:g.94161_94164delAAAA;NM_000540.2:c.10260-168_10260-165delAAAA;NM_001042723.1:c.10260-168_10260-165delAAAA 499576389 145400994 20110316_indels_chr19_39013499_39013502 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39013507delA;NC_000019.9:g.39013507delAinsAT;NG_008866.1:g.94168delA;NG_008866.1:g.94168delAinsAT;NM_000540.2:c.10260-161delA;NM_000540.2:c.10260-161delAinsAT;NM_001042723.1:c.10260-161delA;NM_001042723.1:c.10260-161delAinsAT 103616565 77398039 JWB-4066191 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 ABI 6261 NC_000019.9:g.39013633_39013634insA;NG_008866.1:g.94294_94295insA;NM_000540.2:c.10260-35_10260-34insA;NM_001042723.1:c.10260-35_10260-34insA 41049636 35248369 hCV32823618 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39013638C>G;NG_008866.1:g.94299C>G;NM_000540.2:c.10260-30C>G;NM_001042723.1:c.10260-30C>G 489164597 200603014 20110521_exome_255687_chr19_39013638 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39013682C>T;NG_008866.1:g.94343C>T;NM_000540.2:c.10274C>T;NM_001042723.1:c.10274C>T;NP_000531.2:p.Thr3425Met;NP_001036188.1:p.Thr3425Met 342496617 150977342 ESP2500-chr19-39013682 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.10343C>T NC_000019.9:g.39013751C>T;NG_008866.1:g.94412C>T;NM_000540.2:c.10343C>T;NM_001042723.1:c.10343C>T;NP_000531.2:p.Ser3448Phe;NP_001036188.1:p.Ser3448Phe 475871644 193922836 RYR1_00293 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.39013756G>A;NG_008866.1:g.94417G>A;NM_000540.2:c.10347+1G>A;NM_001042723.1:c.10347+1G>A 169117276 111436401 Human1M-Duov3_B_GA034494-0_T_F_1533476861 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39013756G>A;NG_008866.1:g.94417G>A;NM_000540.2:c.10347+1G>A;NM_001042723.1:c.10347+1G>A 342496618 111436401 ESP2500-chr19-39013756 2011.03.27 2011.03.27 2010.07.04 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 3250966 2304152 IMS-JST061051 9.00e-04 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 75092281 2304152 ILMN_Human_1M_rs2304152 9.00e-04 germline untested 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 119430309 2304152 KHS1592556 9.00e-04 germline untested 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 173278221 2304152 Human1M-Duov3_B_rs2304152-128_T_R_1514080110 9.00e-04 germline untested 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10348-42T>G NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 475871645 2304152 RYR1_00376 9.00e-04 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013815T>G;NG_008866.1:g.94476T>G;NM_000540.2:c.10348-42T>G;NM_001042723.1:c.10348-42T>G 489164599 2304152 20110521_exome_255688_chr19_39013815 9.00e-04 germline untested 2012.02.14 2012.02.14 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10348-6C>G NC_000019.9:g.39013851C>G;NG_008866.1:g.94512C>G;NM_000540.2:c.10348-6C>G;NM_001042723.1:c.10348-6C>G 475871646 193922837 RYR1_00319 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.39013856G>C;NG_008866.1:g.94517G>C;NM_000540.2:c.10348-1G>C;NM_001042723.1:c.10348-1G>C 169117292 112580338 Human1M-Duov3_B_GA034495-0_T_R_1533481743 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39013856G>C;NG_008866.1:g.94517G>C;NM_000540.2:c.10348-1G>C;NM_001042723.1:c.10348-1G>C 203751021 112580338 BUSHMAN-chr19-43705695 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39013867G>A;NG_008866.1:g.94528G>A;NM_000540.2:c.10358G>A;NM_001042723.1:c.10358G>A;NP_000531.2:p.Arg3453His;NP_001036188.1:p.Arg3453His 465586927 187802601 20101123_snps_11754157_chr19_39013867 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013867G>A;NG_008866.1:g.94528G>A;NM_000540.2:c.10358G>A;NM_001042723.1:c.10358G>A;NP_000531.2:p.Arg3453His;NP_001036188.1:p.Arg3453His 491158097 187802601 20110521_exome_665895_chr19_39013867 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013970G>C;NG_008866.1:g.94631G>C;NM_000540.2:c.10440+21G>C;NM_001042723.1:c.10440+21G>C 465586928 190842222 20101123_snps_11754158_chr19_39013970 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39013970G>C;NG_008866.1:g.94631G>C;NM_000540.2:c.10440+21G>C;NM_001042723.1:c.10440+21G>C 491158098 190842222 20110521_exome_665896_chr19_39013970 6.00e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014042G>A;NG_008866.1:g.94703G>A;NM_000540.2:c.10440+93G>A;NM_001042723.1:c.10440+93G>A 340454697 142223496 20100804_snps_12098238_chr19_39014042 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39014098T>A;NG_008866.1:g.94759T>A;NM_000540.2:c.10440+149T>A;NM_001042723.1:c.10440+149T>A 228135869 116016914 pilot_1_YRI_9945552_chr19_43705938 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 4973196 3786829 IMS-JST143580 3.09e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 6628711 3786829 NT_011109.13_1169199 3.09e-01 2003.02.13 2004.05.17 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 65756712 3786829 Human1-rs3786829 3.09e-01 2006.10.10 2006.10.10 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 75600361 3786829 ILMN_Human_1M_rs3786829 3.09e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 83554526 3786829 Cor18555_SNV_20070510.chr19_43706024 3.09e-01 2007.12.05 2007.12.05 2002.08.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 84184101 3786829 KHS652751 3.09e-01 2007.12.06 2007.12.06 2002.08.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 90969980 3786829 JWB-1168219 3.09e-01 2008.03.01 2008.03.01 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 96305715 3786829 1103691141881 3.09e-01 2008.03.26 2008.03.26 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 111365946 3786829 CEU.trio.12.15.2008_3616679_chr19_43706024 3.09e-01 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 115120793 3786829 NA19240_2008_12_16_3257639_chr19_43706024 3.09e-01 2008.12.19 2008.12.19 2002.08.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 117702679 3786829 NA18507_000043929_NCBI36.1_chr19_43706024 3.09e-01 2009.01.20 2009.01.20 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 168183773 3786829 NA07022_36_chr19_43706024 3.09e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 169708451 3786829 NA19240_36_chr19_43706024 3.09e-01 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 203751022 3786829 BUSHMAN-chr19-43706023 3.09e-01 2010.03.09 2010.03.09 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 208462603 3786829 BCM_CMT_1011-3111740 3.09e-01 2010.03.19 2010.03.19 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 228135870 3786829 pilot_1_YRI_9945553_chr19_43706024 3.09e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 237674284 3786829 pilot_1_CEU_7278913_chr19_43706024 3.09e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 243881056 3786829 pilot_1_CHB+JPT_5766133_chr19_43706024 3.09e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 283206068 3786829 GMI_AK_SNP_7526489 3.09e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 292248537 3786829 SNP_1754895_chr19_43706024 3.09e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 480833618 3786829 HumanOmni2.5-4v1_B_rs3786829-128_B_F_1772824953 3.09e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 480849771 3786829 HumanOmniExpress-12v1_C_rs3786829-131_B_F_1857491020 3.09e-01 2012.01.31 2012.01.31 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 481781922 3786829 HumanOmni1-Quad_v1-0_C_rs3786829-131_B_F_1865527321 3.09e-01 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014184T>C;NG_008866.1:g.94845T>C;NM_000540.2:c.10440+235T>C;NM_001042723.1:c.10440+235T>C 485211627 3786829 HumanOmni2.5-4v1_D_rs3786829-131_B_F_1857491020 3.09e-01 2012.02.04 2012.02.04 2002.08.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014465G>A;NG_008866.1:g.95126G>A;NM_000540.2:c.10441-90G>A;NM_001042723.1:c.10440+516G>A 84219391 58776402 Cor19129_SNV_20070510.chr19_43706305 5.00e-03 2007.12.06 2007.12.06 2007.12.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39014465G>A;NG_008866.1:g.95126G>A;NM_000540.2:c.10441-90G>A;NM_001042723.1:c.10440+516G>A 228135871 58776402 pilot_1_YRI_9945554_chr19_43706305 5.00e-03 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.39014506C>T;NG_008866.1:g.95167C>T;NM_000540.2:c.10441-49C>T;NM_001042723.1:c.10440+557C>T 84486826 59703889 Cor19129_SNV_20070510.chr19_43706346 1.92e-02 2007.12.07 2007.12.07 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014506C>T;NG_008866.1:g.95167C>T;NM_000540.2:c.10441-49C>T;NM_001042723.1:c.10440+557C>T 228135872 59703889 pilot_1_YRI_9945555_chr19_43706346 1.92e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014506C>T;NG_008866.1:g.95167C>T;NM_000540.2:c.10441-49C>T;NM_001042723.1:c.10440+557C>T 491158099 59703889 20110521_exome_665897_chr19_39014506 1.92e-02 2012.02.22 2012.02.22 2007.12.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39014507G>A;NG_008866.1:g.95168G>A;NM_000540.2:c.10441-48G>A;NM_001042723.1:c.10440+558G>A 491766257 200576795 SNV-chr19-43706347 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014516G>T;NG_008866.1:g.95177G>T;NM_000540.2:c.10441-39G>T;NM_001042723.1:c.10440+567G>T 489164601 201861807 20110521_exome_255689_chr19_39014516 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014545G>A;NG_008866.1:g.95206G>A;NM_000540.2:c.10441-10G>A;NM_001042723.1:c.10440+596G>A 489164603 200939091 20110521_exome_255690_chr19_39014545 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014567C>T;NG_008866.1:g.95228C>T;NM_000540.2:c.10453C>T;NM_001042723.1:c.10440+618C>T;NP_000531.2:p.Gln3485Ter 489164605 199895006 20110521_exome_255691_chr19_39014567 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014576C>T;NG_008866.1:g.95237C>T;NM_000540.2:c.10455+7C>T;NM_001042723.1:c.10440+627C>T 489164607 202217973 20110521_exome_255692_chr19_39014576 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 115120805 73544616 NA19240_2008_12_16_3257640_chr19_43706482 1.17e-01 2008.12.19 2008.12.19 2009.02.14 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 117702681 73544616 NA18507_000043930_NCBI36.1_chr19_43706482 1.17e-01 2009.01.20 2009.01.20 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 168183785 73544616 NA07022_36_chr19_43706482 1.17e-01 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 169708467 73544616 NA19240_36_chr19_43706482 1.17e-01 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 203751023 73544616 BUSHMAN-chr19-43706481 1.17e-01 2010.03.09 2010.03.09 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 228135873 73544616 pilot_1_YRI_9945556_chr19_43706482 1.17e-01 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 BL 6261 NC_000019.9:g.39014642C>T;NG_008866.1:g.95303C>T;NM_000540.2:c.10455+73C>T;NM_001042723.1:c.10440+693C>T 255668855 73544616 SNP49717_19_43706482 1.17e-01 2010.08.20 2010.08.20 2009.02.14 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.39014708C>A;NG_008866.1:g.95369C>A;NM_000540.2:c.10455+139C>A;NM_001042723.1:c.10440+759C>A 21545790 12982847 WGSA-200403-chr19.chr19.NT_011109.15_11282926 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.39014717C>G;NG_008866.1:g.95378C>G;NM_000540.2:c.10455+148C>G;NM_001042723.1:c.10440+768C>G 21545814 12982858 WGSA-200403-chr19.chr19.NT_011109.15_11282935 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39014827delA;NC_000019.9:g.39014827delAinsAA;NG_008866.1:g.95488delA;NG_008866.1:g.95488delAinsAA;NM_000540.2:c.10455+258delA;NM_000540.2:c.10455+258delAinsAA;NM_001042723.1:c.10440+878delA;NM_001042723.1:c.10440+878delAinsAA 77920198 56388141 Cor12156_DIV_20070510.chr19_43706681-43706684_1 2007.10.16 2007.10.16 2007.12.08 2011.07.08 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39014907G>C;NG_008866.1:g.95568G>C;NM_000540.2:c.10455+338G>C;NM_001042723.1:c.10440+958G>C 168183796 111335424 NA07022_36_chr19_43706747 3.80e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39014907G>C;NG_008866.1:g.95568G>C;NM_000540.2:c.10455+338G>C;NM_001042723.1:c.10440+958G>C 255668862 111335424 SNP49718_19_43706747 3.80e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014907G>C;NG_008866.1:g.95568G>C;NM_000540.2:c.10455+338G>C;NM_001042723.1:c.10440+958G>C 340454698 111335424 20100804_snps_12098239_chr19_39014907 3.80e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39014907G>C;NG_008866.1:g.95568G>C;NM_000540.2:c.10455+338G>C;NM_001042723.1:c.10440+958G>C 469257093 111335424 Chromosome19_43706747 3.80e-02 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 77864579 56001406 Cor12156_DIV_20070510.chr19_43706798-43706799_1 3.70e-03 2007.10.15 2007.10.15 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 77920197 56001406 Cor12156_DIV_20070510.chr19_43706798-43706799_2 3.70e-03 2007.10.16 2007.10.16 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 80925689 56001406 Cor12878_DIV_20070510.chr19_43706798-43706799_1 3.70e-03 2007.11.27 2007.11.27 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 81835993 56001406 Cor18956_DIV_20070510.chr19_43706798-43706799_1 3.70e-03 2007.12.01 2007.12.01 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 82128457 56001406 Cor18555_DIV_20070510.chr19_43706798-43706799_1 3.70e-03 2007.12.02 2007.12.02 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 82741419 56001406 Cor19240_DIV_20070510.chr19_43706798-43706799_1 3.70e-03 2007.12.03 2007.12.03 2007.12.07 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 95728344 56001406 1104685411612 3.70e-03 2008.03.23 2008.12.03 2007.12.07 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 193510352 56001406 BUSHMAN-chr19-43706798-43706798 3.70e-03 2010.02.16 2010.02.16 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 256205652 56001406 SNP3819_19_43706798 3.70e-03 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 288525685 56001406 GMI_NA10851_INDEL_296304 3.70e-03 2010.12.22 2010.12.22 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 289387909 56001406 GMI_AK_INDEL_1065366 3.70e-03 2010.12.30 2011.12.30 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 327903808 56001406 JPTCHB_chr19_43706798_indel 3.70e-03 2011.03.13 2011.04.03 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 328032220 56001406 CEU_chr19_43706798_indel 3.70e-03 2011.03.13 2011.04.03 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 328276248 56001406 YRI_chr19_43706798_indel 3.70e-03 2011.03.13 2011.04.04 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014958_39014959insC;NG_008866.1:g.95619_95620insC;NM_000540.2:c.10455+389_10455+390insC;NM_001042723.1:c.10440+1009_10440+1010insC 499576390 56001406 20110316_indels_chr19_39014958_39014959 3.70e-03 2012.03.20 2012.03.20 2007.12.07 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360825 67547637 INDEL_GP36_2008a_1098595_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360827 67547637 INDEL_GP36_2008a_1098595_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360830 67547637 INDEL_GP36_2008a_1098595_2 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360833 67547637 INDEL_GP36_2008a_1098595_3 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360835 67547637 INDEL_GP36_2008a_1098595_4 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360839 67547637 INDEL_GP36_2008a_1098595_5 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360842 67547637 INDEL_GP36_2008a_1098595_6 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39014959_39014960insC;NG_008866.1:g.95620_95621insC;NM_000540.2:c.10455+390_10455+391insC;NM_001042723.1:c.10440+1010_10440+1011insC 102360843 67547637 INDEL_GP36_2008a_1098595_7 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 HGSV 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 77641152 56099076 Cor12156_SNV_20070510.chr19_43706800 2007.10.14 2007.10.14 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 78500847 56099076 Cor12878_SNV_20070510.chr19_43706800 2007.10.19 2007.10.19 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 83603645 56099076 Cor18555_SNV_20070510.chr19_43706800 2007.12.05 2007.12.05 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 83903855 56099076 Cor18956_SNV_20070510.chr19_43706800 2007.12.06 2007.12.06 2007.12.07 2012.11.28 137 HGSV 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 84443262 56099076 Cor19240_SNV_20070510.chr19_43706800 2007.12.07 2007.12.07 2007.12.07 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 90969982 56099076 JWB-2965866 2008.03.01 2008.03.01 2007.12.07 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 96266966 56099076 1103691141890 2008.03.26 2008.03.26 2007.12.07 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 137670451 56099076 ENSSNP11444355 2009.05.16 2009.05.16 2007.12.07 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 208568264 56099076 BCM_CMT_1011-3147478 2010.03.19 2010.03.19 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 211962644 56099076 YRI.trio.3.2010_1440259_chr19_43706800 2010.03.31 2010.03.31 2007.12.07 2012.11.28 137 BL 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 255668867 56099076 SNP49719_19_43706800 2010.08.20 2010.08.20 2007.12.07 2012.11.28 137 GMI 6261 NC_000019.9:g.39014960A>G;NG_008866.1:g.95621A>G;NM_000540.2:c.10455+391A>G;NM_001042723.1:c.10440+1011A>G 283206069 56099076 GMI_AK_SNP_7526490 2010.12.16 2010.12.16 2007.12.07 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39014960delA;NG_008866.1:g.95621delA;NM_000540.2:c.10455+391delA;NM_001042723.1:c.10440+1011delA 499576395 200675000 20110316_indels_chr19_39014959_39014959 0 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014961T>G;NG_008866.1:g.95622T>G;NM_000540.2:c.10455+392T>G;NM_001042723.1:c.10441-1011T>G 482873612 201934046 HumanOmni2.5-4v1_D_kgp22823974-0_T_R_1860399088 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39014961T>G;NG_008866.1:g.95622T>G;NM_000540.2:c.10455+392T>G;NM_001042723.1:c.10441-1011T>G 483826029 201934046 HumanOmni2.5-4v1_B_SNP19-43706801-0_T_R_1650863854 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015025G>A;NG_008866.1:g.95686G>A;NM_000540.2:c.10455+456G>A;NM_001042723.1:c.10441-947G>A 465586929 183282632 20101123_snps_11754159_chr19_39015025 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 83306503 58611824 Cor18555_SNV_20070510.chr19_43707014 1.05e-01 2007.12.04 2007.12.04 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 111365957 58611824 CEU.trio.12.15.2008_3616680_chr19_43707014 1.05e-01 2008.12.17 2008.12.17 2007.12.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 208542241 58611824 BCM_CMT_1011-3138733 1.05e-01 2010.03.19 2010.03.19 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 228135875 58611824 pilot_1_YRI_9945558_chr19_43707014 1.05e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 237674288 58611824 pilot_1_CEU_7278917_chr19_43707014 1.05e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 243881058 58611824 pilot_1_CHB+JPT_5766135_chr19_43707014 1.05e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 283206070 58611824 GMI_AK_SNP_7526491 1.05e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 482309553 58611824 HumanOmni2.5-4v1_D_kgp2129467-0_B_F_1814886378 1.05e-01 2012.02.01 2012.02.01 2007.12.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015174C>T;NG_008866.1:g.95835C>T;NM_000540.2:c.10455+605C>T;NM_001042723.1:c.10441-798C>T 483826031 58611824 HumanOmni2.5-4v1_B_SNP19-43707014-0_B_F_1622813050 1.05e-01 2012.02.03 2012.02.03 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015198A>G;NG_008866.1:g.95859A>G;NM_000540.2:c.10455+629A>G;NM_001042723.1:c.10441-774A>G 465586930 187908865 20101123_snps_11754160_chr19_39015198 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39015297G>A;NG_008866.1:g.95958G>A;NM_000540.2:c.10456-675G>A;NM_001042723.1:c.10441-675G>A 3447679 2459635 AC067969.1_5602 4.99e-02 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39015297G>A;NG_008866.1:g.95958G>A;NM_000540.2:c.10456-675G>A;NM_001042723.1:c.10441-675G>A 82736620 2459635 Cor19240_SNV_20070510.chr19_43707137 4.99e-02 2007.12.03 2007.12.03 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015297G>A;NG_008866.1:g.95958G>A;NM_000540.2:c.10456-675G>A;NM_001042723.1:c.10441-675G>A 115120807 2459635 NA19240_2008_12_16_3257641_chr19_43707137 4.99e-02 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39015297G>A;NG_008866.1:g.95958G>A;NM_000540.2:c.10456-675G>A;NM_001042723.1:c.10441-675G>A 169708493 2459635 NA19240_36_chr19_43707137 4.99e-02 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015297G>A;NG_008866.1:g.95958G>A;NM_000540.2:c.10456-675G>A;NM_001042723.1:c.10441-675G>A 228135876 2459635 pilot_1_YRI_9945559_chr19_43707137 4.99e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39015395_39015396insC;NG_008866.1:g.96056_96057insC;NM_000540.2:c.10456-577_10456-576insC;NM_001042723.1:c.10441-577_10441-576insC 41049603 34671115 hCV32823620 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 2984585 2071090 IMS-JST006394 1.68e-01 germline untested 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 3186172 2071090 SNP000571756 1.68e-01 unknown untested 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 24127164 2071090 afd4603017 1.68e-01 germline untested 2004.08.21 2004.09.13 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 44177528 2071090 hCV1722523 1.68e-01 germline untested 2005.07.18 2006.11.03 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 66231807 2071090 SNP_A-4261123 1.68e-01 unknown untested 2006.10.28 2007.08.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 66805393 2071090 HumanHap300v1.1_rs2071090 1.68e-01 germline untested 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 67222009 2071090 HumanHap550v1.1_rs2071090 1.68e-01 unknown untested 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 67616443 2071090 HumanHap650Yv1.0_rs2071090 1.68e-01 germline untested 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 69228173 2071090 PGP04603017 1.68e-01 unknown untested 2007.01.30 2007.01.30 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 70700299 2071090 HumanHap550v3.0__rs2071090 1.68e-01 germline untested 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 71266336 2071090 HumanHap650Yv3.0_rs2071090 1.68e-01 unknown untested 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 75837416 2071090 ILMN_Human_1M_rs2071090 1.68e-01 unknown untested 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 76377891 2071090 AFFY_6_1M_SNP_A-4261123 1.68e-01 germline untested 2007.08.30 2010.03.07 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 79112269 2071090 HumanHap300v2.0_rs2071090 1.68e-01 unknown untested 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 83964403 2071090 KHS586132 1.68e-01 unknown untested 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 90969984 2071090 JWB-1168220 1.68e-01 germline untested 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 96305716 2071090 1103691141882 1.68e-01 germline untested 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 111365963 2071090 CEU.trio.12.15.2008_3616681_chr19_43707294 1.68e-01 germline untested 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 121908071 2071090 HumanCNV370v1_C_rs2071090 1.68e-01 unknown untested 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 137670454 2071090 ENSSNP6342342 1.68e-01 unknown untested 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 153843453 2071090 Human610_Quadv1_B_rs2071090-128_T_R_1501702080 1.68e-01 unknown untested 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 159355866 2071090 Human660W-Quad_v1_A_rs2071090-128_T_R_1501702080 1.68e-01 germline untested 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 160497766 2071090 HumanOmni1-Quad_v1-0_B_rs2071090-128_T_R_1501702080 1.68e-01 unknown untested 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 170997110 2071090 HumanCNV370-Quadv3_C_rs2071090-128_T_R_1501702080 1.68e-01 unknown untested 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 173095690 2071090 Human1M-Duov3_B_rs2071090-128_T_R_1501702080 1.68e-01 germline untested 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 AFFY 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 173421939 2071090 GenomeWideSNP_5_SNP_A-4261123 1.68e-01 germline untested 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 203751024 2071090 BUSHMAN-chr19-43707293 1.68e-01 unknown untested 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 208382667 2071090 BCM_CMT_1011-3085153 1.68e-01 germline untested 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 228135877 2071090 pilot_1_YRI_9945560_chr19_43707294 1.68e-01 germline untested 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 237674289 2071090 pilot_1_CEU_7278918_chr19_43707294 1.68e-01 unknown untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 243881059 2071090 pilot_1_CHB+JPT_5766136_chr19_43707294 1.68e-01 unknown untested 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 283206071 2071090 GMI_AK_SNP_7526492 1.68e-01 unknown untested 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 292248538 2071090 SNP_1754896_chr19_43707294 1.68e-01 unknown untested 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10456-518T>C NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 475871647 2071090 RYR1_00375 1.68e-01 unknown untested 2011.11.25 2011.11.25 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 480410028 2071090 HumanOmni2.5-4v1_B_rs2071090-128_T_R_1772824954 1.68e-01 germline untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 480423338 2071090 HumanOmniExpress-12v1_C_rs2071090-131_T_R_1857106093 1.68e-01 unknown untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 481205732 2071090 HumanOmni1-Quad_v1-0_C_rs2071090-131_T_R_1865549009 1.68e-01 unknown untested 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39015454T>C;NG_008866.1:g.96115T>C;NM_000540.2:c.10456-518T>C;NM_001042723.1:c.10441-518T>C 485002553 2071090 HumanOmni2.5-4v1_D_rs2071090-131_T_R_1857106093 1.68e-01 germline untested 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015478T>C;NG_008866.1:g.96139T>C;NM_000540.2:c.10456-494T>C;NM_001042723.1:c.10441-494T>C 465586931 191995813 20101123_snps_11754161_chr19_39015478 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39015504T>C;NG_008866.1:g.96165T>C;NM_000540.2:c.10456-468T>C;NM_001042723.1:c.10441-468T>C 340454699 140257408 20100804_snps_12098240_chr19_39015504 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39015725A>T;NG_008866.1:g.96386A>T;NM_000540.2:c.10456-247A>T;NM_001042723.1:c.10441-247A>T 203751025 111226739 BUSHMAN-chr19-43707564 5.00e-04 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015725A>T;NG_008866.1:g.96386A>T;NM_000540.2:c.10456-247A>T;NM_001042723.1:c.10441-247A>T 465586932 111226739 20101123_snps_11754162_chr19_39015725 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39015927A>G;NG_008866.1:g.96588A>G;NM_000540.2:c.10456-45A>G;NM_001042723.1:c.10441-45A>G 489164609 201418635 20110521_exome_255693_chr19_39015927 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39016008C>G;NG_008866.1:g.96669C>G;NM_000540.2:c.10492C>G;NM_001042723.1:c.10477C>G;NP_000531.2:p.Arg3498Gly;NP_001036188.1:p.Arg3493Gly 491766258 201358408 SNV-chr19-43707848 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39016011C>T;NG_008866.1:g.96672C>T;NM_000540.2:c.10495C>T;NM_001042723.1:c.10480C>T;NP_000531.2:p.Arg3499Trp;NP_001036188.1:p.Arg3494Trp 342496619 147058802 ESP2500-chr19-39016011 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39016012G>C;NG_008866.1:g.96673G>C;NM_000540.2:c.10496G>C;NM_001042723.1:c.10481G>C;NP_000531.2:p.Arg3499Pro;NP_001036188.1:p.Arg3494Pro 342496620 138324438 ESP2500-chr19-39016012 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.39016080C>T;NG_008866.1:g.96741C>T;NM_000540.2:c.10564C>T;NM_001042723.1:c.10549C>T;NP_000531.2:p.Leu3522=;NP_001036188.1:p.Leu3517= 491766259 200144997 SNV-chr19-43707920 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.10579C>T NC_000019.9:g.39016095C>T;NG_008866.1:g.96756C>T;NM_000540.2:c.10579C>T;NM_001042723.1:c.10564C>T;NP_000531.2:p.Pro3527Ser;NP_001036188.1:p.Pro3522Ser 252444733 118192164 CCORE_69 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.PRO3527SER NC_000019.9:g.39016095C>T;NG_008866.1:g.96756C>T;NM_000540.2:c.10579C>T;NM_001042723.1:c.10564C>T;NP_000531.2:p.Pro3527Ser;NP_001036188.1:p.Pro3522Ser 275518445 118192164 5316 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.10579C>T NC_000019.9:g.39016095C>T;NG_008866.1:g.96756C>T;NM_000540.2:c.10579C>T;NM_001042723.1:c.10564C>T;NP_000531.2:p.Pro3527Ser;NP_001036188.1:p.Pro3522Ser 475871649 118192164 RYR1_00028 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39016100C>T;NG_008866.1:g.96761C>T;NM_000540.2:c.10584C>T;NM_001042723.1:c.10569C>T;NP_000531.2:p.Thr3528=;NP_001036188.1:p.Thr3523= 342496621 142340057 ESP2500-chr19-39016100 9.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016100C>T;NG_008866.1:g.96761C>T;NM_000540.2:c.10584C>T;NM_001042723.1:c.10569C>T;NP_000531.2:p.Thr3528=;NP_001036188.1:p.Thr3523= 489164611 142340057 20110521_exome_255694_chr19_39016100 9.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39016117C>T;NG_008866.1:g.96778C>T;NM_000540.2:c.10601C>T;NM_001042723.1:c.10586C>T;NP_000531.2:p.Thr3534Met;NP_001036188.1:p.Thr3529Met 342496622 146914779 ESP2500-chr19-39016117 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 340454700 143987857 20100804_snps_12098241_chr19_39016132 5.00e-04 germline untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 342496623 143987857 ESP2500-chr19-39016132 5.00e-04 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10616G>A NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 475871650 143987857 RYR1_00321 5.00e-04 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 491158100 143987857 20110521_exome_665898_chr19_39016132 5.00e-04 germline untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 491546498 143987857 nonsyn_262724_chr_19_39016132 5.00e-04 germline untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39016132G>A;NG_008866.1:g.96793G>A;NM_000540.2:c.10616G>A;NM_001042723.1:c.10601G>A;NP_000531.2:p.Arg3539His;NP_001036188.1:p.Arg3534His 491766260 143987857 SNV-chr19-43707972 5.00e-04 unknown untested 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39016143G>A;NG_008866.1:g.96804G>A;NM_000540.2:c.10626+1G>A;NM_001042723.1:c.10611+1G>A 169117304 113100043 Human1M-Duov3_B_GA034496-0_T_F_1533476459 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39016411C>A;NG_008866.1:g.97072C>A;NM_000540.2:c.10626+269C>A;NM_001042723.1:c.10611+269C>A 137670457 78738973 ENSSNP11444357 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39016437_39016438insC;NG_008866.1:g.97098_97099insC;NM_000540.2:c.10626+295_10626+296insC;NM_001042723.1:c.10611+295_10611+296insC 499576398 200804401 20110316_indels_chr19_39016437_39016438 1.37e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 21551057 12984412 WGSA-200403-chr19.chr19.NT_011109.15_11284792 6.36e-02 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 44157912 12984412 hCV1722524 6.36e-02 2005.07.18 2005.07.18 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 96266967 12984412 1103691141891 6.36e-02 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 136267470 12984412 ENSSNP1527945 6.36e-02 2009.05.15 2009.10.15 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 228135878 12984412 pilot_1_YRI_9945561_chr19_43708414 6.36e-02 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 237674290 12984412 pilot_1_CEU_7278919_chr19_43708414 6.36e-02 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 283206072 12984412 GMI_AK_SNP_7526493 6.36e-02 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39016574C>T;NG_008866.1:g.97235C>T;NM_000540.2:c.10626+432C>T;NM_001042723.1:c.10611+432C>T 292248539 12984412 SNP_1754897_chr19_43708414 6.36e-02 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 2412430 1568191 TSC0461536 3.07e-01 2000.10.20 2004.05.16 2000.10.23 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 4151672 1568191 AC067969.1_6925 3.07e-01 2001.10.15 2003.10.10 2000.10.23 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 6057713 1568191 NT_011233.10_1171616 3.07e-01 2003.01.12 2003.10.10 2000.10.23 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 21506558 1568191 WGSA-200403-chr19.chr19.NT_011109.15_11284838 3.07e-01 2004.03.20 2004.03.20 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 44168763 1568191 hCV1722525 3.07e-01 2005.07.18 2007.08.14 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 65764491 1568191 Human1-rs1568191 3.07e-01 2006.10.10 2006.10.10 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 74864939 1568191 ILMN_Human_1M_rs1568191 3.07e-01 2007.08.29 2007.08.29 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 96266968 1568191 1103691141892 3.07e-01 2008.03.26 2008.03.26 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 115120814 1568191 NA19240_2008_12_16_3257642_chr19_43708460 3.07e-01 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 117702683 1568191 NA18507_000043931_NCBI36.1_chr19_43708460 3.07e-01 2009.01.20 2009.01.20 2000.10.23 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 119398997 1568191 KHS1561244 3.07e-01 2009.02.04 2009.02.04 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 136267468 1568191 ENSSNP1527946 3.07e-01 2009.05.15 2009.10.15 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 168183808 1568191 NA07022_36_chr19_43708460 3.07e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 172586680 1568191 Human1M-Duov3_B_rs1568191-128_T_R_1513890769 3.07e-01 2009.10.02 2009.10.02 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 203751026 1568191 BUSHMAN-chr19-43708459 3.07e-01 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 208470158 1568191 BCM_CMT_1011-3114253 3.07e-01 2010.03.19 2010.03.19 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 228135879 1568191 pilot_1_YRI_9945562_chr19_43708460 3.07e-01 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 237674291 1568191 pilot_1_CEU_7278920_chr19_43708460 3.07e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 243881060 1568191 pilot_1_CHB+JPT_5766137_chr19_43708460 3.07e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 BL 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 255668872 1568191 SNP49720_19_43708460 3.07e-01 2010.08.20 2010.08.20 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 283206073 1568191 GMI_AK_SNP_7526494 3.07e-01 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 PJP 6261 NC_000019.9:g.39016620T>C;NG_008866.1:g.97281T>C;NM_000540.2:c.10626+478T>C;NM_001042723.1:c.10611+478T>C 292248540 1568191 SNP_1754898_chr19_43708460 3.07e-01 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39016647C>G;NG_008866.1:g.97308C>G;NM_000540.2:c.10626+505C>G;NM_001042723.1:c.10611+505C>G 203751027 112856366 BUSHMAN-chr19-43708486 3.70e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016647C>G;NG_008866.1:g.97308C>G;NM_000540.2:c.10626+505C>G;NM_001042723.1:c.10611+505C>G 340454701 112856366 20100804_snps_12098242_chr19_39016647 3.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39016810C>T;NG_008866.1:g.97471C>T;NM_000540.2:c.10626+668C>T;NM_001042723.1:c.10611+668C>T 340454702 140769285 20100804_snps_12098243_chr19_39016810 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39016825C>T;NG_008866.1:g.97486C>T;NM_000540.2:c.10626+683C>T;NM_001042723.1:c.10611+683C>T 465586933 188571757 20101123_snps_11754163_chr19_39016825 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39016911G>A;NG_008866.1:g.97572G>A;NM_000540.2:c.10627-722G>A;NM_001042723.1:c.10612-722G>A 340454703 150105259 20100804_snps_12098244_chr19_39016911 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39017037C>A;NG_008866.1:g.97698C>A;NM_000540.2:c.10627-596C>A;NM_001042723.1:c.10612-596C>A 80524182 59712128 Cor18507_SNV_20070510.chr19_43708877 2.06e-02 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39017037C>A;NG_008866.1:g.97698C>A;NM_000540.2:c.10627-596C>A;NM_001042723.1:c.10612-596C>A 117702686 59712128 NA18507_000043932_NCBI36.1_chr19_43708877 2.06e-02 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017037C>A;NG_008866.1:g.97698C>A;NM_000540.2:c.10627-596C>A;NM_001042723.1:c.10612-596C>A 228135880 59712128 pilot_1_YRI_9945563_chr19_43708877 2.06e-02 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017066C>A;NG_008866.1:g.97727C>A;NM_000540.2:c.10627-567C>A;NM_001042723.1:c.10612-567C>A 340454704 138283628 20100804_snps_12098245_chr19_39017066 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39017122G>A;NG_008866.1:g.97783G>A;NM_000540.2:c.10627-511G>A;NM_001042723.1:c.10612-511G>A 228135881 116190763 pilot_1_YRI_9945564_chr19_43708962 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39017145A>G;NG_008866.1:g.97806A>G;NM_000540.2:c.10627-488A>G;NM_001042723.1:c.10612-488A>G 465586934 192874267 20101123_snps_11754164_chr19_39017145 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 2909691 1996410 TSC0888080 7.97e-02 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 6247132 1996410 NT_011233.10_1172193 7.97e-02 2003.01.13 2003.10.10 2001.01.12 2012.11.28 137 SEQUENOM 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 24786041 1996410 sqnm60534 7.97e-02 2004.06.18 2004.06.18 2001.01.12 2012.11.28 137 ABI 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 44166665 1996410 hCV11977408 7.97e-02 2005.07.18 2005.07.18 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 228135882 1996410 pilot_1_YRI_9945565_chr19_43709037 7.97e-02 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 243881061 1996410 pilot_1_CHB+JPT_5766138_chr19_43709037 7.97e-02 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 255668875 1996410 SNP49721_19_43709037 7.97e-02 2010.08.20 2010.08.20 2001.01.12 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 482848859 1996410 HumanOmni2.5-4v1_D_kgp22815745-0_T_F_1860382629 7.97e-02 2012.02.02 2012.02.02 2001.01.12 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39017197A>C;NC_000019.9:g.39017197A>G;NG_008866.1:g.97858A>C;NG_008866.1:g.97858A>G;NM_000540.2:c.10627-436A>C;NM_000540.2:c.10627-436A>G;NM_001042723.1:c.10612-436A>C;NM_001042723.1:c.10612-436A>G 483826033 1996410 HumanOmni2.5-4v1_B_SNP19-43709037-0_T_F_1644280316 7.97e-02 2012.02.03 2012.02.03 2001.01.12 2012.11.28 137 ABI 6261 NC_000019.9:g.39017215delC;NG_008866.1:g.97876delC;NM_000540.2:c.10627-418delC;NM_001042723.1:c.10612-418delC 40972977 34466163 hCV32823621 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 YUSUKE 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 3206648 2254484 IMS-JST066732 3.08e-01 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 3447680 2254484 AC067969.1_7683 3.08e-01 germline untested 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 83878880 2254484 Cor18555_SNV_20070510.chr19_43709218 3.08e-01 germline untested 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 85750419 2254484 Cor19129_SNV_20070510.chr19_43709218 3.08e-01 germline untested 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 90969986 2254484 JWB-1168221 3.08e-01 unknown untested 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 96305717 2254484 1103691141884 3.08e-01 unknown untested 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 115120824 2254484 NA19240_2008_12_16_3257643_chr19_43709218 3.08e-01 germline untested 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 117702688 2254484 NA18507_000043933_NCBI36.1_chr19_43709218 3.08e-01 unknown untested 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 133887576 2254484 ENSSNP3201223 3.08e-01 germline untested 2009.05.12 2009.10.14 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 168183823 2254484 NA07022_36_chr19_43709218 3.08e-01 germline untested 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 169708518 2254484 NA19240_36_chr19_43709218 3.08e-01 germline untested 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 203751028 2254484 BUSHMAN-chr19-43709217 3.08e-01 unknown untested 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 208404171 2254484 BCM_CMT_1011-3092298 3.08e-01 unknown untested 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 228135883 2254484 pilot_1_YRI_9945566_chr19_43709218 3.08e-01 unknown untested 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 237674292 2254484 pilot_1_CEU_7278921_chr19_43709218 3.08e-01 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 243881062 2254484 pilot_1_CHB+JPT_5766139_chr19_43709218 3.08e-01 germline untested 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 255668881 2254484 SNP49722_19_43709218 3.08e-01 unknown untested 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 283206074 2254484 GMI_AK_SNP_7526495 3.08e-01 germline untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 292248541 2254484 SNP_1754899_chr19_43709218 3.08e-01 unknown untested 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10627-255T>C NC_000019.9:g.39017378T>C;NG_008866.1:g.98039T>C;NM_000540.2:c.10627-255T>C;NM_001042723.1:c.10612-255T>C 475871648 2254484 RYR1_00377 3.08e-01 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017419C>T;NG_008866.1:g.98080C>T;NM_000540.2:c.10627-214C>T;NM_001042723.1:c.10612-214C>T 465586935 184923843 20101123_snps_11754165_chr19_39017419 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39017518C>T;NG_008866.1:g.98179C>T;NM_000540.2:c.10627-115C>T;NM_001042723.1:c.10612-115C>T 465586936 189332650 20101123_snps_11754166_chr19_39017518 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39017544C>T;NG_008866.1:g.98205C>T;NM_000540.2:c.10627-89C>T;NM_001042723.1:c.10612-89C>T 465586937 180859272 20101123_snps_11754167_chr19_39017544 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39017555G>A;NG_008866.1:g.98216G>A;NM_000540.2:c.10627-78G>A;NM_001042723.1:c.10612-78G>A 228135884 114016558 pilot_1_YRI_9945567_chr19_43709395 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017602A>G;NG_008866.1:g.98263A>G;NM_000540.2:c.10627-31A>G;NM_001042723.1:c.10612-31A>G 489164614 200712339 20110521_exome_255695_chr19_39017602 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017627C>T;NG_008866.1:g.98288C>T;NM_000540.2:c.10627-6C>T;NM_001042723.1:c.10612-6C>T 465586938 184543573 20101123_snps_11754168_chr19_39017627 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017627C>T;NG_008866.1:g.98288C>T;NM_000540.2:c.10627-6C>T;NM_001042723.1:c.10612-6C>T 491158101 184543573 20110521_exome_665899_chr19_39017627 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39017650G>A;NG_008866.1:g.98311G>A;NM_000540.2:c.10644G>A;NM_001042723.1:c.10629G>A;NP_000531.2:p.Glu3548=;NP_001036188.1:p.Glu3543= 342496624 149417544 ESP2500-chr19-39017650 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39017670A>T;NG_008866.1:g.98331A>T;NM_000540.2:c.10664A>T;NM_001042723.1:c.10649A>T;NP_000531.2:p.Asn3555Ile;NP_001036188.1:p.Asn3550Ile 489164616 199689862 20110521_exome_255696_chr19_39017670 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39017813G>A;NG_008866.1:g.98474G>A;NM_000540.2:c.10686+121G>A;NM_001042723.1:c.10671+121G>A 465586939 189279128 20101123_snps_11754169_chr19_39017813 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39017865A>G;NG_008866.1:g.98526A>G;NM_000540.2:c.10686+173A>G;NM_001042723.1:c.10671+173A>G 203751029 112209122 BUSHMAN-chr19-43709704 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39017925C>A;NG_008866.1:g.98586C>A;NM_000540.2:c.10686+233C>A;NM_001042723.1:c.10671+233C>A 465586940 182025821 20101123_snps_11754170_chr19_39017925 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39018049C>T;NG_008866.1:g.98710C>T;NM_000540.2:c.10687-238C>T;NM_001042723.1:c.10672-238C>T 465586941 185775691 20101123_snps_11754171_chr19_39018049 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SI_EXO 6261 NC_000019.9:g.39018105G>A;NG_008866.1:g.98766G>A;NM_000540.2:c.10687-182G>A;NM_001042723.1:c.10672-182G>A 76891794 55963265 NT_011109.15_11286323 2007.09.20 2007.09.20 2007.12.07 2011.07.08 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39018161A>G;NG_008866.1:g.98822A>G;NM_000540.2:c.10687-126A>G;NM_001042723.1:c.10672-126A>G 168183832 112541479 NA07022_36_chr19_43710001 3.75e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018161A>G;NG_008866.1:g.98822A>G;NM_000540.2:c.10687-126A>G;NM_001042723.1:c.10672-126A>G 237674293 112541479 pilot_1_CEU_7278922_chr19_43710001 3.75e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39018161A>G;NG_008866.1:g.98822A>G;NM_000540.2:c.10687-126A>G;NM_001042723.1:c.10672-126A>G 469257094 112541479 Chromosome19_43710001 3.75e-02 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018235G>A;NG_008866.1:g.98896G>A;NM_000540.2:c.10687-52G>A;NM_001042723.1:c.10672-52G>A 465586942 191723325 20101123_snps_11754172_chr19_39018235 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39018254C>T;NG_008866.1:g.98915C>T;NM_000540.2:c.10687-33C>T;NM_001042723.1:c.10672-33C>T 489164618 201567162 20110521_exome_255697_chr19_39018254 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 208496323 77592501 BCM_CMT_1011-3123011 7.01e-02 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 210946318 77592501 CEU.trio.3.2010_162545_chr19_43710117 7.01e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 237674294 77592501 pilot_1_CEU_7278923_chr19_43710117 7.01e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 243881063 77592501 pilot_1_CHB+JPT_5766140_chr19_43710117 7.01e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 491158102 77592501 20110521_exome_665900_chr19_39018277 7.01e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39018277C>T;NG_008866.1:g.98938C>T;NM_000540.2:c.10687-10C>T;NM_001042723.1:c.10672-10C>T 491766261 77592501 SNV-chr19-43710117 7.01e-02 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 4171587 2960354 AC091486.2_88419 1.13e-01 germline untested 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 66809116 2960354 HumanHap300v1.1_rs2960354 1.13e-01 germline untested 2006.11.09 2006.11.09 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 67285284 2960354 HumanHap550v1.1_rs2960354 1.13e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 67688012 2960354 HumanHap650Yv1.0_rs2960354 1.13e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 70763819 2960354 HumanHap550v3.0__rs2960354 1.13e-01 germline untested 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 71338096 2960354 HumanHap650Yv3.0_rs2960354 1.13e-01 unknown untested 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 75857235 2960354 ILMN_Human_1M_rs2960354 1.13e-01 unknown untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 79155146 2960354 HumanHap300v2.0_rs2960354 1.13e-01 germline untested 2007.11.18 2007.11.18 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 84008707 2960354 Cor19240_SNV_20070510.chr19_43710120 1.13e-01 unknown untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 84130633 2960354 KHS641906 1.13e-01 germline untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 85503818 2960354 Cor19129_SNV_20070510.chr19_43710120 1.13e-01 germline untested 2007.12.09 2007.12.09 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 122151144 2960354 HumanCNV370v1_C_rs2960354 1.13e-01 germline untested 2009.04.15 2009.04.15 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 154248463 2960354 Human610_Quadv1_B_rs2960354-128_T_F_1501748091 1.13e-01 unknown untested 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 159425368 2960354 Human660W-Quad_v1_A_rs2960354-128_T_F_1501748091 1.13e-01 germline untested 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 160602211 2960354 HumanOmni1-Quad_v1-0_B_rs2960354-128_T_F_1501748091 1.13e-01 unknown untested 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 168183845 2960354 NA07022_36_chr19_43710120 1.13e-01 germline untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 169708535 2960354 NA19240_36_chr19_43710120 1.13e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 171498110 2960354 HumanCNV370-Quadv3_C_rs2960354-128_T_F_1501748091 1.13e-01 germline untested 2009.10.01 2009.10.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 173541120 2960354 Human1M-Duov3_B_rs2960354-128_T_F_1501748091 1.13e-01 germline untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 203751030 2960354 BUSHMAN-chr19-43710119 1.13e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 211962646 2960354 YRI.trio.3.2010_1440260_chr19_43710120 1.13e-01 unknown untested 2010.03.31 2010.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 228135885 2960354 pilot_1_YRI_9945568_chr19_43710120 1.13e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 237674295 2960354 pilot_1_CEU_7278924_chr19_43710120 1.13e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 410927516 2960354 Cardio-Metabo_Chip_11395247_A_rs2960354 1.13e-01 unknown untested 2011.06.07 2011.06.07 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10687-7C>T NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 475871651 2960354 RYR1_00378 1.13e-01 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 480727407 2960354 HumanOmni2.5-4v1_B_rs2960354-128_T_F_1501748091 1.13e-01 germline untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 480743142 2960354 HumanOmniExpress-12v1_C_rs2960354-131_T_F_1857384118 1.13e-01 germline untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 481623323 2960354 HumanOmni1-Quad_v1-0_C_rs2960354-131_T_F_1865492448 1.13e-01 germline untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 485158445 2960354 HumanOmni2.5-4v1_D_rs2960354-131_T_F_1857384118 1.13e-01 germline untested 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 491158103 2960354 20110521_exome_665901_chr19_39018280 1.13e-01 unknown untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39018280C>T;NG_008866.1:g.98941C>T;NM_000540.2:c.10687-7C>T;NM_001042723.1:c.10672-7C>T 491766262 2960354 SNV-chr19-43710120 1.13e-01 unknown untested 2012.03.07 2012.03.13 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39018336T>C;NG_008866.1:g.98997T>C;NM_000540.2:c.10736T>C;NM_001042723.1:c.10721T>C;NP_000531.2:p.Val3579Ala;NP_001036188.1:p.Val3574Ala 342496625 144797677 ESP2500-chr19-39018336 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39018342G>A;NG_008866.1:g.99003G>A;NM_000540.2:c.10742G>A;NM_001042723.1:c.10727G>A;NP_000531.2:p.Gly3581Asp;NP_001036188.1:p.Gly3576Asp 342496626 148130880 ESP2500-chr19-39018342 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39018345G>A;NG_008866.1:g.99006G>A;NM_000540.2:c.10745G>A;NM_001042723.1:c.10730G>A;NP_000531.2:p.Arg3582His;NP_001036188.1:p.Arg3577His 342496627 142491855 ESP2500-chr19-39018345 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 HGSV 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 77615841 55876273 Cor12156_SNV_20070510.chr19_43710187 6.90e-03 germline untested 2007.10.13 2007.10.13 2007.12.06 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 159739642 55876273 RYR1-43710187 6.90e-03 germline untested 2009.07.10 2009.07.10 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 340454706 55876273 20100804_snps_12098247_chr19_39018347 6.90e-03 germline untested 2011.03.22 2011.03.22 2007.12.06 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 342496628 55876273 ESP2500-chr19-39018347 6.90e-03 germline untested 2011.03.27 2011.03.27 2007.12.06 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10747G>C NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 475871652 55876273 RYR1_00230 6.90e-03 germline untested 2011.11.25 2011.11.25 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 491158104 55876273 20110521_exome_665902_chr19_39018347 6.90e-03 unknown untested 2012.02.22 2012.02.22 2007.12.06 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 491546499 55876273 nonsyn_262725_chr_19_39018347 6.90e-03 unknown untested 2012.03.06 2012.03.06 2007.12.06 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39018347G>C;NG_008866.1:g.99008G>C;NM_000540.2:c.10747G>C;NM_001042723.1:c.10732G>C;NP_000531.2:p.Glu3583Gln;NP_001036188.1:p.Glu3578Gln 491766263 55876273 SNV-chr19-43710187 6.90e-03 germline untested 2012.03.07 2012.03.13 2007.12.06 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39018352G>A;NG_008866.1:g.99013G>A;NM_000540.2:c.10752G>A;NM_001042723.1:c.10737G>A;NP_000531.2:p.Glu3584=;NP_001036188.1:p.Glu3579= 491766264 202245843 SNV-chr19-43710192 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39018389C>A;NG_008866.1:g.99050C>A;NM_000540.2:c.10789C>A;NM_001042723.1:c.10774C>A;NP_000531.2:p.Gln3597Lys;NP_001036188.1:p.Gln3592Lys 283206075 200994404 GMI_AK_SNP_7526496 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 NHLBI-ESP 6261 NC_000019.9:g.39018393A>T;NG_008866.1:g.99054A>T;NM_000540.2:c.10793A>T;NM_001042723.1:c.10778A>T;NP_000531.2:p.Glu3598Val;NP_001036188.1:p.Glu3593Val 342496629 139834926 ESP2500-chr19-39018393 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39018403C>T;NG_008866.1:g.99064C>T;NM_000540.2:c.10803C>T;NM_001042723.1:c.10788C>T;NP_000531.2:p.Ala3601=;NP_001036188.1:p.Ala3596= 342496630 141542477 ESP2500-chr19-39018403 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.10817T>C NC_000019.9:g.39018417T>C;NG_008866.1:g.99078T>C;NM_000540.2:c.10817T>C;NM_001042723.1:c.10802T>C;NP_000531.2:p.Leu3606Pro;NP_001036188.1:p.Leu3601Pro 252444695 118192127 CCORE_19 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10817T>C NC_000019.9:g.39018417T>C;NG_008866.1:g.99078T>C;NM_000540.2:c.10817T>C;NM_001042723.1:c.10802T>C;NP_000531.2:p.Leu3606Pro;NP_001036188.1:p.Leu3601Pro 475871653 118192127 RYR1_00250 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018425G>A;NG_008866.1:g.99086G>A;NM_000540.2:c.10824+1G>A;NM_001042723.1:c.10809+1G>A 169117322 111694258 Human1M-Duov3_B_GA034497-0_T_F_1533481245 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39018426T>C;NG_008866.1:g.99087T>C;NM_000540.2:c.10824+2T>C;NM_001042723.1:c.10809+2T>C 169117336 111446464 Human1M-Duov3_B_GA034498-0_B_F_1533481280 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 BL 6261 NC_000019.9:g.39018446T>G;NG_008866.1:g.99107T>G;NM_000540.2:c.10824+22T>G;NM_001042723.1:c.10809+22T>G 255668886 142799462 SNP49723_19_43710286 5.00e-04 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018446T>G;NG_008866.1:g.99107T>G;NM_000540.2:c.10824+22T>G;NM_001042723.1:c.10809+22T>G 489164620 142799462 20110521_exome_255698_chr19_39018446 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39018446T>G;NG_008866.1:g.99107T>G;NM_000540.2:c.10824+22T>G;NM_001042723.1:c.10809+22T>G 491766265 142799462 SNV-chr19-43710286 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 5019777 3833268 IMS-JST097357 1.08e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 8090641 3833268 INDEL_GP31_177600 1.08e-01 2003.04.16 2003.10.10 2002.08.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 41013360 3833268 hCV32823622 1.08e-01 2005.07.17 2005.07.17 2002.08.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 193510354 3833268 BUSHMAN-chr19-43710422-43710422 1.08e-01 2010.02.16 2010.02.16 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 289387910 3833268 GMI_AK_INDEL_1065367 1.08e-01 2010.12.30 2011.12.30 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 327903811 3833268 JPTCHB_chr19_43710422_indel 1.08e-01 2011.03.13 2011.04.03 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 328032222 3833268 CEU_chr19_43710422_indel 1.08e-01 2011.03.13 2011.04.03 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 328276249 3833268 YRI_chr19_43710422_indel 1.08e-01 2011.03.13 2011.04.04 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018582_39018583insA;NG_008866.1:g.99243_99244insA;NM_000540.2:c.10824+158_10824+159insA;NM_001042723.1:c.10809+158_10809+159insA 499576403 3833268 20110316_indels_chr19_39018582_39018583 1.08e-01 2012.03.20 2012.03.20 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39018709_39018710insAGG;NG_008866.1:g.99370_99371insAGG;NM_000540.2:c.10825-237_10825-236insAGG;NM_001042723.1:c.10810-237_10810-236insAGG 289387911 201788666 GMI_AK_INDEL_1065368 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 TSC-CSHL 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 1342356 908644 TSC0189297 2.17e-01 germline untested 2000.09.06 2004.05.16 2000.10.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 4151673 908644 AC067969.1_9033 2.17e-01 unknown untested 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 6147173 908644 NT_011233.10_1173724 2.17e-01 germline untested 2003.01.12 2003.10.10 2000.10.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 44187943 908644 hCV8709861 2.17e-01 germline untested 2005.07.18 2006.11.03 2000.10.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 69228174 908644 PGP04176880 2.17e-01 unknown untested 2007.01.30 2007.08.14 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 80473604 908644 Cor18507_SNV_20070510.chr19_43710568 2.17e-01 germline untested 2007.11.25 2007.11.25 2000.10.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 84788619 908644 Cor19240_SNV_20070510.chr19_43710568 2.17e-01 germline untested 2007.12.08 2007.12.08 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 111365971 908644 CEU.trio.12.15.2008_3616682_chr19_43710568 2.17e-01 unknown untested 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 115120836 908644 NA19240_2008_12_16_3257644_chr19_43710568 2.17e-01 germline untested 2008.12.19 2008.12.19 2000.10.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 117702689 908644 NA18507_000043934_NCBI36.1_chr19_43710568 2.17e-01 unknown untested 2009.01.20 2009.01.20 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 168183857 908644 NA07022_36_chr19_43710568 2.17e-01 germline untested 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 169708549 908644 NA19240_36_chr19_43710568 2.17e-01 germline untested 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 203751031 908644 BUSHMAN-chr19-43710567 2.17e-01 unknown untested 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 208487821 908644 BCM_CMT_1011-3120041 2.17e-01 germline untested 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 228135886 908644 pilot_1_YRI_9945569_chr19_43710568 2.17e-01 unknown untested 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 237674296 908644 pilot_1_CEU_7278925_chr19_43710568 2.17e-01 unknown untested 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 243881064 908644 pilot_1_CHB+JPT_5766141_chr19_43710568 2.17e-01 germline untested 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 255668891 908644 SNP49724_19_43710568 2.17e-01 germline untested 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 283206076 908644 GMI_AK_SNP_7526497 2.17e-01 germline untested 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10825-218C>G NC_000019.9:g.39018728C>G;NG_008866.1:g.99389C>G;NM_000540.2:c.10825-218C>G;NM_001042723.1:c.10810-218C>G 475871654 908644 RYR1_00379 2.17e-01 unknown untested 2011.11.25 2011.11.25 2000.10.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39018841C>T;NG_008866.1:g.99502C>T;NM_000540.2:c.10825-105C>T;NM_001042723.1:c.10810-105C>T 117702692 73933015 NA18507_000043935_NCBI36.1_chr19_43710681 1.60e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39018841C>T;NG_008866.1:g.99502C>T;NM_000540.2:c.10825-105C>T;NM_001042723.1:c.10810-105C>T 203751032 73933015 BUSHMAN-chr19-43710680 1.60e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018841C>T;NG_008866.1:g.99502C>T;NM_000540.2:c.10825-105C>T;NM_001042723.1:c.10810-105C>T 228135887 73933015 pilot_1_YRI_9945570_chr19_43710681 1.60e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018841C>T;NG_008866.1:g.99502C>T;NM_000540.2:c.10825-105C>T;NM_001042723.1:c.10810-105C>T 482317185 73933015 HumanOmni2.5-4v1_D_kgp21335458-0_T_R_1844023219 1.60e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39018841C>T;NG_008866.1:g.99502C>T;NM_000540.2:c.10825-105C>T;NM_001042723.1:c.10810-105C>T 483826035 73933015 HumanOmni2.5-4v1_B_SNP19-43710681-0_T_R_1637750170 1.60e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39018898delA;NC_000019.9:g.39018898delAinsAG;NG_008866.1:g.99559delA;NG_008866.1:g.99559delAinsAG;NM_000540.2:c.10825-48delA;NM_000540.2:c.10825-48delAinsAG;NM_001042723.1:c.10810-48delA;NM_001042723.1:c.10810-48delAinsAG 193510356 111652538 BUSHMAN-chr19-43710739-43710741 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39018901G>A;NG_008866.1:g.99562G>A;NM_000540.2:c.10825-45G>A;NM_001042723.1:c.10810-45G>A 340454707 139337159 20100804_snps_12098248_chr19_39018901 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018901G>A;NG_008866.1:g.99562G>A;NM_000540.2:c.10825-45G>A;NM_001042723.1:c.10810-45G>A 491158105 139337159 20110521_exome_665903_chr19_39018901 8.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39018935C>A;NG_008866.1:g.99596C>A;NM_000540.2:c.10825-11C>A;NM_001042723.1:c.10810-11C>A 489164623 201114660 20110521_exome_255699_chr19_39018935 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019064G>A;NG_008866.1:g.99725G>A;NM_000540.2:c.10937+6G>A;NM_001042723.1:c.10922+6G>A 489164625 200073458 20110521_exome_255700_chr19_39019064 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 4151674 2945049 AC067969.1_9402 2.15e-02 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 115120843 2945049 NA19240_2008_12_16_3257645_chr19_43710937 2.15e-02 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 169708566 2945049 NA19240_36_chr19_43710937 2.15e-02 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 228135888 2945049 pilot_1_YRI_9945571_chr19_43710937 2.15e-02 germline untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10937+39G>A NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 475871655 2945049 RYR1_00380 2.15e-02 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019097G>A;NG_008866.1:g.99758G>A;NM_000540.2:c.10937+39G>A;NM_001042723.1:c.10922+39G>A 491158106 2945049 20110521_exome_665904_chr19_39019097 2.15e-02 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 10938033 6508806 chr19.NT_011109.15_11287371 1.68e-01 unknown untested 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 12467995 6508806 chr19.NT_011109.15_11287371 1.68e-01 unknown untested 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 21531027 6508806 WGSA-200403-chr19.chr19.NT_011109.15_11287371 1.68e-01 germline untested 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 44169765 6508806 hCV22275423 1.68e-01 germline untested 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 90969988 6508806 JWB-1168222 1.68e-01 germline untested 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 96305718 6508806 1103691141886 1.68e-01 germline untested 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 136267464 6508806 ENSSNP1527947 1.68e-01 germline untested 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 137670460 6508806 ENSSNP11444358 1.68e-01 germline untested 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 203751033 6508806 BUSHMAN-chr19-43710992 1.68e-01 germline untested 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 208498116 6508806 BCM_CMT_1011-3123634 1.68e-01 germline untested 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 228135889 6508806 pilot_1_YRI_9945572_chr19_43710993 1.68e-01 unknown untested 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 237674297 6508806 pilot_1_CEU_7278926_chr19_43710993 1.68e-01 unknown untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 243881067 6508806 pilot_1_CHB+JPT_5766144_chr19_43710993 1.68e-01 germline untested 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 283206077 6508806 GMI_AK_SNP_7526498 1.68e-01 germline untested 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 292248542 6508806 SNP_1754900_chr19_43710993 1.68e-01 germline untested 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.10938-86A>G NC_000019.9:g.39019153A>G;NG_008866.1:g.99814A>G;NM_000540.2:c.10938-86A>G;NM_001042723.1:c.10923-86A>G 475871656 6508806 RYR1_00381 1.68e-01 unknown untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019212C>T;NG_008866.1:g.99873C>T;NM_000540.2:c.10938-27C>T;NM_001042723.1:c.10923-27C>T 340454708 143048087 20100804_snps_12098249_chr19_39019212 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019212C>T;NG_008866.1:g.99873C>T;NM_000540.2:c.10938-27C>T;NM_001042723.1:c.10923-27C>T 491158107 143048087 20110521_exome_665905_chr19_39019212 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019222A>G;NG_008866.1:g.99883A>G;NM_000540.2:c.10938-17A>G;NM_001042723.1:c.10923-17A>G 465586943 181147531 20101123_snps_11754173_chr19_39019222 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019222A>G;NG_008866.1:g.99883A>G;NM_000540.2:c.10938-17A>G;NM_001042723.1:c.10923-17A>G 491158108 181147531 20110521_exome_665906_chr19_39019222 2.70e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39019222A>G;NG_008866.1:g.99883A>G;NM_000540.2:c.10938-17A>G;NM_001042723.1:c.10923-17A>G 491766266 181147531 SNV-chr19-43711062 2.70e-03 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39019230C>T;NG_008866.1:g.99891C>T;NM_000540.2:c.10938-9C>T;NM_001042723.1:c.10923-9C>T 491766267 201976186 SNV-chr19-43711070 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019232C>T;NG_008866.1:g.99893C>T;NM_000540.2:c.10938-7C>T;NM_001042723.1:c.10923-7C>T 489164627 201651099 20110521_exome_255701_chr19_39019232 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39019238G>C;NG_008866.1:g.99899G>C;NM_000540.2:c.10938-1G>C;NM_001042723.1:c.10923-1G>C 169117353 113260793 Human1M-Duov3_B_GA034499-0_B_R_1533482274 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39019238G>C;NG_008866.1:g.99899G>C;NM_000540.2:c.10938-1G>C;NM_001042723.1:c.10923-1G>C 203751034 113260793 BUSHMAN-chr19-43711077 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 228135890 114351116 pilot_1_YRI_9945573_chr19_43711082 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 342496631 114351116 ESP2500-chr19-39019242 2.30e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 482351426 114351116 HumanOmni2.5-4v1_D_kgp21526551-0_B_R_1844405375 2.30e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 483826037 114351116 HumanOmni2.5-4v1_B_SNP19-43711082-0_B_R_1647566496 2.30e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 491158109 114351116 20110521_exome_665907_chr19_39019242 2.30e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39019242C>G;NG_008866.1:g.99903C>G;NM_000540.2:c.10941C>G;NM_001042723.1:c.10926C>G;NP_000531.2:p.His3647Gln;NP_001036188.1:p.His3642Gln 491546500 114351116 nonsyn_262726_chr_19_39019242 2.30e-03 2012.03.06 2012.03.06 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39019276G>C;NG_008866.1:g.99937G>C;NM_000540.2:c.10975G>C;NM_001042723.1:c.10960G>C;NP_000531.2:p.Ala3659Pro;NP_001036188.1:p.Ala3654Pro 342496632 139211752 ESP2500-chr19-39019276 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39019299C>T;NG_008866.1:g.99960C>T;NM_000540.2:c.10998C>T;NM_001042723.1:c.10983C>T;NP_000531.2:p.Asp3666=;NP_001036188.1:p.Asp3661= 342496633 149949301 ESP2500-chr19-39019299 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39019324G>C;NG_008866.1:g.99985G>C;NM_000540.2:c.11023G>C;NM_001042723.1:c.11008G>C;NP_000531.2:p.Asp3675His;NP_001036188.1:p.Asp3670His 342496634 145026307 ESP2500-chr19-39019324 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39019355G>T;NG_008866.1:g.100016G>T;NM_000540.2:c.11034+20G>T;NM_001042723.1:c.11019+20G>T 465586944 186460831 20101123_snps_11754174_chr19_39019355 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019355G>T;NG_008866.1:g.100016G>T;NM_000540.2:c.11034+20G>T;NM_001042723.1:c.11019+20G>T 491158110 186460831 20110521_exome_665908_chr19_39019355 5.00e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019362G>A;NG_008866.1:g.100023G>A;NM_000540.2:c.11034+27G>A;NM_001042723.1:c.11019+27G>A 340454709 147450893 20100804_snps_12098250_chr19_39019362 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019362G>A;NG_008866.1:g.100023G>A;NM_000540.2:c.11034+27G>A;NM_001042723.1:c.11019+27G>A 491158111 147450893 20110521_exome_665909_chr19_39019362 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39019419C>T;NG_008866.1:g.100080C>T;NM_000540.2:c.11034+84C>T;NM_001042723.1:c.11019+84C>T 203751035 113665507 BUSHMAN-chr19-43711258 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019456C>T;NG_008866.1:g.100117C>T;NM_000540.2:c.11034+121C>T;NM_001042723.1:c.11019+121C>T 340454710 138421813 20100804_snps_12098251_chr19_39019456 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019465G>A;NG_008866.1:g.100126G>A;NM_000540.2:c.11035-126G>A;NM_001042723.1:c.11020-126G>A 340454711 141905132 20100804_snps_12098252_chr19_39019465 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019564C>T;NG_008866.1:g.100225C>T;NM_000540.2:c.11035-27C>T;NM_001042723.1:c.11020-27C>T 465586945 190849174 20101123_snps_11754175_chr19_39019564 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019564C>T;NG_008866.1:g.100225C>T;NM_000540.2:c.11035-27C>T;NM_001042723.1:c.11020-27C>T 491158112 190849174 20110521_exome_665910_chr19_39019564 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ABI 6261 NC_000019.9:g.39019564_39019565insC;NG_008866.1:g.100225_100226insC;NM_000540.2:c.11035-27_11035-26insC;NM_001042723.1:c.11020-27_11020-26insC 40963076 35331079 hCV32823623 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39019647C>T;NG_008866.1:g.100308C>T;NM_000540.2:c.11091C>T;NM_001042723.1:c.11076C>T;NP_000531.2:p.Pro3697=;NP_001036188.1:p.Pro3692= 489164629 201296563 20110521_exome_255702_chr19_39019647 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11120G>T NC_000019.9:g.39019676G>T;NG_008866.1:g.100337G>T;NM_000540.2:c.11120G>T;NM_001042723.1:c.11105G>T;NP_000531.2:p.Arg3707Leu;NP_001036188.1:p.Arg3702Leu 475871657 193922838 RYR1_00256 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.39019698G>C;NG_008866.1:g.100359G>C;NM_000540.2:c.11141+1G>C;NM_001042723.1:c.11126+1G>C 169117368 111699294 Human1M-Duov3_B_GA034500-0_B_F_1533481718 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 BGI 6261 NC_000019.9:g.39019704A>G;NG_008866.1:g.100365A>G;NM_000540.2:c.11141+7A>G;NM_001042723.1:c.11126+7A>G 103437777 78350770 BGI_YHSNP0125971 1.05e-02 2008.06.06 2009.06.17 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39019704A>G;NG_008866.1:g.100365A>G;NM_000540.2:c.11141+7A>G;NM_001042723.1:c.11126+7A>G 283206078 78350770 GMI_AK_SNP_7526499 1.05e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019704A>G;NG_008866.1:g.100365A>G;NM_000540.2:c.11141+7A>G;NM_001042723.1:c.11126+7A>G 465586946 78350770 20101123_snps_11754176_chr19_39019704 1.05e-02 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019704A>G;NG_008866.1:g.100365A>G;NM_000540.2:c.11141+7A>G;NM_001042723.1:c.11126+7A>G 491158113 78350770 20110521_exome_665911_chr19_39019704 1.05e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 HGSV 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 81105334 61441471 Cor18555_SNV_20070510.chr19_43711592 1.05e-01 2007.11.27 2007.11.27 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 111365979 61441471 CEU.trio.12.15.2008_3616683_chr19_43711592 1.05e-01 2008.12.17 2008.12.17 2007.12.16 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 203751036 61441471 BUSHMAN-chr19-43711591 1.05e-01 2010.03.09 2010.03.09 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 228135891 61441471 pilot_1_YRI_9945574_chr19_43711592 1.05e-01 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 237674298 61441471 pilot_1_CEU_7278927_chr19_43711592 1.05e-01 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 243881068 61441471 pilot_1_CHB+JPT_5766145_chr19_43711592 1.05e-01 2010.05.01 2010.05.01 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 283206079 61441471 GMI_AK_SNP_7526500 1.05e-01 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39019752C>T;NG_008866.1:g.100413C>T;NM_000540.2:c.11141+55C>T;NM_001042723.1:c.11126+55C>T 491766268 61441471 SNV-chr19-43711592 1.05e-01 2012.03.07 2012.03.13 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019859C>G;NG_008866.1:g.100520C>G;NM_000540.2:c.11141+162C>G;NM_001042723.1:c.11126+162C>G 465586947 186952182 20101123_snps_11754177_chr19_39019859 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 19394924 12459024 CSHL-HuDD-200402.chr19.NT_011109.15_11288167 6.32e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 41024891 12459024 hCV1722526 6.32e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 90969991 12459024 JWB-1168223 6.32e-02 2008.03.01 2008.03.01 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 132762470 12459024 ENSSNP1527948 6.32e-02 2009.05.12 2009.10.15 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 137670463 12459024 ENSSNP11444359 6.32e-02 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 228135892 12459024 pilot_1_YRI_9945575_chr19_43711789 6.32e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 237674299 12459024 pilot_1_CEU_7278928_chr19_43711789 6.32e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 243881069 12459024 pilot_1_CHB+JPT_5766146_chr19_43711789 6.32e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 283206080 12459024 GMI_AK_SNP_7526501 6.32e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39019949C>T;NG_008866.1:g.100610C>T;NM_000540.2:c.11141+252C>T;NM_001042723.1:c.11126+252C>T 292248543 12459024 SNP_1754901_chr19_43711789 6.32e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 4171586 2960353 AC091486.2_86749 6.59e-02 2001.10.15 2003.10.10 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 115120849 2960353 NA19240_2008_12_16_3257646_chr19_43711790 6.59e-02 2008.12.19 2008.12.19 2001.11.05 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 117702694 2960353 NA18507_000043936_NCBI36.1_chr19_43711790 6.59e-02 2009.01.20 2009.01.20 2001.11.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 169708581 2960353 NA19240_36_chr19_43711790 6.59e-02 2009.10.01 2009.10.01 2001.11.05 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 203751037 2960353 BUSHMAN-chr19-43711789 6.59e-02 2010.03.09 2010.03.09 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39019950G>A;NG_008866.1:g.100611G>A;NM_000540.2:c.11141+253G>A;NM_001042723.1:c.11126+253G>A 228135893 2960353 pilot_1_YRI_9945576_chr19_43711790 6.59e-02 2010.04.22 2010.04.22 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020088C>T;NG_008866.1:g.100749C>T;NM_000540.2:c.11141+391C>T;NM_001042723.1:c.11126+391C>T 465586948 191030752 20101123_snps_11754178_chr19_39020088 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 MPI_MOLGEN 6261 NC_000019.9:g.39020088C>T;NG_008866.1:g.100749C>T;NM_000540.2:c.11141+391C>T;NM_001042723.1:c.11126+391C>T 469257095 191030752 Chromosome19_43711928 9.00e-04 2011.08.15 2011.08.15 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39020130G>C;NG_008866.1:g.100791G>C;NM_000540.2:c.11141+433G>C;NM_001042723.1:c.11126+433G>C 465586949 183509389 20101123_snps_11754179_chr19_39020130 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39020140G>A;NG_008866.1:g.100801G>A;NM_000540.2:c.11141+443G>A;NM_001042723.1:c.11126+443G>A 340454712 150629595 20100804_snps_12098253_chr19_39020140 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020182G>C;NG_008866.1:g.100843G>C;NM_000540.2:c.11141+485G>C;NM_001042723.1:c.11126+485G>C 340454713 139575331 20100804_snps_12098254_chr19_39020182 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020336A>G;NG_008866.1:g.100997A>G;NM_000540.2:c.11141+639A>G;NM_001042723.1:c.11126+639A>G 340454714 149717203 20100804_snps_12098255_chr19_39020336 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020391A>G;NG_008866.1:g.101052A>G;NM_000540.2:c.11141+694A>G;NM_001042723.1:c.11126+694A>G 340454715 146287091 20100804_snps_12098256_chr19_39020391 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020505C>T;NG_008866.1:g.101166C>T;NM_000540.2:c.11141+808C>T;NM_001042723.1:c.11126+808C>T 465586950 188608982 20101123_snps_11754180_chr19_39020505 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 203751038 74716784 BUSHMAN-chr19-43712399 1.05e-01 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 208437088 74716784 BCM_CMT_1011-3103209 1.05e-01 2010.03.19 2010.03.19 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 228135894 74716784 pilot_1_YRI_9945577_chr19_43712400 1.05e-01 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 237674300 74716784 pilot_1_CEU_7278929_chr19_43712400 1.05e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 243881070 74716784 pilot_1_CHB+JPT_5766147_chr19_43712400 1.05e-01 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 283206081 74716784 GMI_AK_SNP_7526502 1.05e-01 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 479641513 74716784 HumanOmni2.5-4v1_D_kgp11312355-0_B_F_1816438207 1.05e-01 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39020560T>G;NG_008866.1:g.101221T>G;NM_000540.2:c.11141+863T>G;NM_001042723.1:c.11126+863T>G 483826039 74716784 HumanOmni2.5-4v1_B_SNP19-43712400-0_B_F_1622814654 1.05e-01 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ABI 6261 NC_000019.9:g.39020592_39020593insG;NG_008866.1:g.101253_101254insG;NM_000540.2:c.11141+895_11141+896insG;NM_001042723.1:c.11126+895_11126+896insG 41028829 35991417 hCV32823624 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39020650C>T;NG_008866.1:g.101311C>T;NM_000540.2:c.11141+953C>T;NM_001042723.1:c.11126+953C>T 340454716 139388342 20100804_snps_12098257_chr19_39020650 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39020775G>T;NG_008866.1:g.101436G>T;NM_000540.2:c.11141+1078G>T;NM_001042723.1:c.11126+1078G>T 465586951 192939980 20101123_snps_11754181_chr19_39020775 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39020826T>C;NG_008866.1:g.101487T>C;NM_000540.2:c.11141+1129T>C;NM_001042723.1:c.11126+1129T>C 208499515 113883435 BCM_CMT_1011-3124119 1.04e-01 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39020826T>C;NG_008866.1:g.101487T>C;NM_000540.2:c.11141+1129T>C;NM_001042723.1:c.11126+1129T>C 283206082 113883435 GMI_AK_SNP_7526503 1.04e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39020826T>C;NG_008866.1:g.101487T>C;NM_000540.2:c.11141+1129T>C;NM_001042723.1:c.11126+1129T>C 340454717 113883435 20100804_snps_12098258_chr19_39020826 1.04e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39020829A>G;NG_008866.1:g.101490A>G;NM_000540.2:c.11141+1132A>G;NM_001042723.1:c.11126+1132A>G 465586952 184681870 20101123_snps_11754182_chr19_39020829 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39020863G>A;NG_008866.1:g.101524G>A;NM_000540.2:c.11141+1166G>A;NM_001042723.1:c.11126+1166G>A 465586953 188006473 20101123_snps_11754183_chr19_39020863 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39021051C>T;NG_008866.1:g.101712C>T;NM_000540.2:c.11141+1354C>T;NM_001042723.1:c.11126+1354C>T 340454718 146428169 20100804_snps_12098259_chr19_39021051 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PJP 6261 NC_000019.9:g.39021071delT;NG_008866.1:g.101732delT;NM_000540.2:c.11141+1374delT;NM_001042723.1:c.11126+1374delT 294962544 142263877 DIP_400248_chr19_43712911 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39021096A>T;NG_008866.1:g.101757A>T;NM_000540.2:c.11141+1399A>T;NM_001042723.1:c.11126+1399A>T 340454719 149025660 20100804_snps_12098260_chr19_39021096 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39021125G>A;NG_008866.1:g.101786G>A;NM_000540.2:c.11141+1428G>A;NM_001042723.1:c.11126+1428G>A 203751039 113014672 BUSHMAN-chr19-43712964 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39021202G>A;NG_008866.1:g.101863G>A;NM_000540.2:c.11141+1505G>A;NM_001042723.1:c.11126+1505G>A 111365987 73032616 CEU.trio.12.15.2008_3616684_chr19_43713042 1.05e-01 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021202G>A;NG_008866.1:g.101863G>A;NM_000540.2:c.11141+1505G>A;NM_001042723.1:c.11126+1505G>A 228135895 73032616 pilot_1_YRI_9945578_chr19_43713042 1.05e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021202G>A;NG_008866.1:g.101863G>A;NM_000540.2:c.11141+1505G>A;NM_001042723.1:c.11126+1505G>A 237674301 73032616 pilot_1_CEU_7278930_chr19_43713042 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021202G>A;NG_008866.1:g.101863G>A;NM_000540.2:c.11141+1505G>A;NM_001042723.1:c.11126+1505G>A 243881071 73032616 pilot_1_CHB+JPT_5766148_chr19_43713042 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39021202G>A;NG_008866.1:g.101863G>A;NM_000540.2:c.11141+1505G>A;NM_001042723.1:c.11126+1505G>A 283206083 73032616 GMI_AK_SNP_7526504 1.05e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39021207T>G;NG_008866.1:g.101868T>G;NM_000540.2:c.11141+1510T>G;NM_001042723.1:c.11126+1510T>G 208493145 73032620 BCM_CMT_1011-3121888 1.05e-01 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021207T>G;NG_008866.1:g.101868T>G;NM_000540.2:c.11141+1510T>G;NM_001042723.1:c.11126+1510T>G 228135896 73032620 pilot_1_YRI_9945579_chr19_43713047 1.05e-01 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021207T>G;NG_008866.1:g.101868T>G;NM_000540.2:c.11141+1510T>G;NM_001042723.1:c.11126+1510T>G 237674302 73032620 pilot_1_CEU_7278931_chr19_43713047 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021207T>G;NG_008866.1:g.101868T>G;NM_000540.2:c.11141+1510T>G;NM_001042723.1:c.11126+1510T>G 243881072 73032620 pilot_1_CHB+JPT_5766149_chr19_43713047 1.05e-01 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39021207T>G;NG_008866.1:g.101868T>G;NM_000540.2:c.11141+1510T>G;NM_001042723.1:c.11126+1510T>G 283206084 73032620 GMI_AK_SNP_7526505 1.05e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39021361C>T;NG_008866.1:g.102022C>T;NM_000540.2:c.11141+1664C>T;NM_001042723.1:c.11126+1664C>T 168183872 113787728 NA07022_36_chr19_43713201 3.89e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021361C>T;NG_008866.1:g.102022C>T;NM_000540.2:c.11141+1664C>T;NM_001042723.1:c.11126+1664C>T 237674303 113787728 pilot_1_CEU_7278932_chr19_43713201 3.89e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39021373A>C;NG_008866.1:g.102034A>C;NM_000540.2:c.11141+1676A>C;NM_001042723.1:c.11126+1676A>C 255668896 146858552 SNP49725_19_43713213 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39021450T>C;NG_008866.1:g.102111T>C;NM_000540.2:c.11142-1680T>C;NM_001042723.1:c.11127-1680T>C 482624503 200323887 HumanOmni2.5-4v1_D_kgp22740640-0_B_F_1860454114 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021450T>C;NG_008866.1:g.102111T>C;NM_000540.2:c.11142-1680T>C;NM_001042723.1:c.11127-1680T>C 483826041 200323887 HumanOmni2.5-4v1_B_SNP19-43713290-0_B_F_1644329838 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.39021469delT;NG_008866.1:g.102130delT;NM_000540.2:c.11142-1661delT;NM_001042723.1:c.11127-1661delT 79732963 58055057 Cor18507_DIV_20070510.chr19_43713311-43713313_1 6.59e-02 2007.11.23 2007.11.23 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39021469delT;NG_008866.1:g.102130delT;NM_000540.2:c.11142-1661delT;NM_001042723.1:c.11127-1661delT 193510358 58055057 BUSHMAN-chr19-43713308-43713309 6.59e-02 2010.02.16 2010.02.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021469delT;NG_008866.1:g.102130delT;NM_000540.2:c.11142-1661delT;NM_001042723.1:c.11127-1661delT 499576407 58055057 20110316_indels_chr19_39021468_39021468 6.59e-02 2012.03.20 2012.03.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021520G>A;NG_008866.1:g.102181G>A;NM_000540.2:c.11142-1610G>A;NM_001042723.1:c.11127-1610G>A 465586954 191841220 20101123_snps_11754184_chr19_39021520 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39021567C>T;NG_008866.1:g.102228C>T;NM_000540.2:c.11142-1563C>T;NM_001042723.1:c.11127-1563C>T 465586955 183606605 20101123_snps_11754185_chr19_39021567 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39021574C>T;NG_008866.1:g.102235C>T;NM_000540.2:c.11142-1556C>T;NM_001042723.1:c.11127-1556C>T 19397363 12459749 CSHL-HuDD-200402.chr19.NT_011109.15_11289792 3.39e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39021574C>T;NG_008866.1:g.102235C>T;NM_000540.2:c.11142-1556C>T;NM_001042723.1:c.11127-1556C>T 41009896 12459749 hCV30930814 3.39e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39021574C>T;NG_008866.1:g.102235C>T;NM_000540.2:c.11142-1556C>T;NM_001042723.1:c.11127-1556C>T 161878507 12459749 ENSSNP1527949 3.39e-02 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39021574C>T;NG_008866.1:g.102235C>T;NM_000540.2:c.11142-1556C>T;NM_001042723.1:c.11127-1556C>T 283206085 12459749 GMI_AK_SNP_7526506 3.39e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021574C>T;NG_008866.1:g.102235C>T;NM_000540.2:c.11142-1556C>T;NM_001042723.1:c.11127-1556C>T 340454721 12459749 20100804_snps_12098262_chr19_39021574 3.39e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39021627C>T;NG_008866.1:g.102288C>T;NM_000540.2:c.11142-1503C>T;NM_001042723.1:c.11127-1503C>T 137670465 75256270 ENSSNP11444360 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.39021628_39021629insTTTTTTT;NG_008866.1:g.102289_102290insTTTTTTT;NM_000540.2:c.11142-1502_11142-1501insTTTTTTT;NM_001042723.1:c.11127-1502_11127-1501insTTTTTTT 15123421 10687537 INDEL_GP34_WGS_217602 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 HGSV 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 79732968 59244176 Cor18507_DIV_20070510.chr19_43713484-43713486_1 2007.11.23 2007.11.23 2007.12.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 95728345 59244176 1104685411613 2008.03.23 2008.12.03 2007.12.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 96281046 59244176 1103691141888 2008.03.26 2008.03.26 2007.12.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39021628_39021629insTTTTTTT;NG_008866.1:g.102289_102290insTTTTTTT;NM_000540.2:c.11142-1502_11142-1501insTTTTTTT;NM_001042723.1:c.11127-1502_11127-1501insTTTTTTT 99844992 10687537 INDEL_GP36_2007a_490224_0 2008.05.06 2008.05.06 2003.12.05 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 101039150 59244176 INDEL_GP36_2008a_2928995_0 2008.05.17 2008.05.17 2007.12.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 294962545 59244176 DIP_400249_chr19_43713468 2011.01.22 2011.01.22 2007.12.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39021628delT;NG_008866.1:g.102289delT;NM_000540.2:c.11142-1502delT;NM_001042723.1:c.11127-1502delT 294962546 59244176 DIP_400250_chr19_43713485 2011.01.22 2011.01.22 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39021629T>C;NG_008866.1:g.102290T>C;NM_000540.2:c.11142-1501T>C;NM_001042723.1:c.11127-1501T>C 168183887 112971357 NA07022_36_chr19_43713469 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39021629T>C;NG_008866.1:g.102290T>C;NM_000540.2:c.11142-1501T>C;NM_001042723.1:c.11127-1501T>C 283206086 112971357 GMI_AK_SNP_7526507 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39021630T>C;NG_008866.1:g.102291T>C;NM_000540.2:c.11142-1500T>C;NM_001042723.1:c.11127-1500T>C 137670469 77079183 ENSSNP11444361 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.39021642T>G;NG_008866.1:g.102303T>G;NM_000540.2:c.11142-1488T>G;NM_001042723.1:c.11127-1488T>G 19405279 12462061 CSHL-HuDD-200402.chr19.NT_011109.15_11289860 3.48e-02 2004.02.21 2004.03.04 2004.02.28 2011.10.06 137 ENSEMBL 6261 NC_000019.9:g.39021642T>G;NG_008866.1:g.102303T>G;NM_000540.2:c.11142-1488T>G;NM_001042723.1:c.11127-1488T>G 161878508 12462061 ENSSNP1527950 3.48e-02 2009.09.26 2010.03.07 2004.02.28 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39021642T>G;NG_008866.1:g.102303T>G;NM_000540.2:c.11142-1488T>G;NM_001042723.1:c.11127-1488T>G 465586956 12462061 20101123_snps_11754186_chr19_39021642 3.48e-02 2011.07.20 2011.07.20 2004.02.28 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39021647T>G;NG_008866.1:g.102308T>G;NM_000540.2:c.11142-1483T>G;NM_001042723.1:c.11127-1483T>G 14706724 10412010 chr19.NT_011109.15_11289865 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 10927476 7250800 chr19.NT_011109.15_11289972 1.39e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 19397425 7250800 CSHL-HuDD-200402.chr19.NT_011109.15_11289972 1.39e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 41020564 7250800 hCV30930816 1.39e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 161878509 7250800 ENSSNP1527951 1.39e-01 2009.09.26 2010.03.07 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 283206087 7250800 GMI_AK_SNP_7526508 1.39e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 292248544 7250800 SNP_1754902_chr19_43713594 1.39e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021754A>G;NG_008866.1:g.102415A>G;NM_000540.2:c.11142-1376A>G;NM_001042723.1:c.11127-1376A>G 340454722 7250800 20100804_snps_12098263_chr19_39021754 1.39e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021762C>T;NG_008866.1:g.102423C>T;NM_000540.2:c.11142-1368C>T;NM_001042723.1:c.11127-1368C>T 228135897 116597181 pilot_1_YRI_9945580_chr19_43713602 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021764G>A;NG_008866.1:g.102425G>A;NM_000540.2:c.11142-1366G>A;NM_001042723.1:c.11127-1366G>A 340454723 146752700 20100804_snps_12098264_chr19_39021764 1.28e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39021850C>T;NG_008866.1:g.102511C>T;NM_000540.2:c.11142-1280C>T;NM_001042723.1:c.11127-1280C>T 465586957 192427677 20101123_snps_11754187_chr19_39021850 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39021851delG;NG_008866.1:g.102512delG;NM_000540.2:c.11142-1279delG;NM_001042723.1:c.11127-1279delG 328276250 141702513 YRI_chr19_43713690_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 10920391 7246912 chr19.NT_011109.15_11290124 1.34e-01 2003.06.30 2004.04.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 66849964 7246912 HumanHap300v1.1_rs7246912 1.34e-01 2006.11.09 2006.11.09 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 67561432 7246912 HumanHap550v1.1_rs7246912 1.34e-01 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 67939070 7246912 HumanHap650Yv1.0_rs7246912 1.34e-01 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 70919059 7246912 HumanHap550v3.0__rs7246912 1.34e-01 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 71518461 7246912 HumanHap650Yv3.0_rs7246912 1.34e-01 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 75904380 7246912 ILMN_Human_1M_rs7246912 1.34e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 79251776 7246912 HumanHap300v2.0_rs7246912 1.34e-01 2007.11.18 2007.11.18 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 84645674 7246912 KHS767764 1.34e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 111366006 7246912 CEU.trio.12.15.2008_3616686_chr19_43713746 1.34e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 122725437 7246912 HumanCNV370v1_C_rs7246912 1.34e-01 2009.04.15 2009.04.15 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 154415631 7246912 Human610_Quadv1_B_rs7246912-128_B_R_1501845989 1.34e-01 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 159590713 7246912 Human660W-Quad_v1_A_rs7246912-128_B_R_1501845989 1.34e-01 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 172269637 7246912 HumanCNV370-Quadv3_C_rs7246912-128_B_R_1501845989 1.34e-01 2009.10.02 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 174308104 7246912 Human1M-Duov3_B_rs7246912-128_B_R_1501845989 1.34e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 208411978 7246912 BCM_CMT_1011-3094892 1.34e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 228135898 7246912 pilot_1_YRI_9945581_chr19_43713746 1.34e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 237674304 7246912 pilot_1_CEU_7278933_chr19_43713746 1.34e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 243881073 7246912 pilot_1_CHB+JPT_5766150_chr19_43713746 1.34e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 283206088 7246912 GMI_AK_SNP_7526509 1.34e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 292248545 7246912 SNP_1754903_chr19_43713746 1.34e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 479901420 7246912 HumanOmni2.5-4v1_D_kgp12022589-0_T_F_1814883194 1.34e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39021906G>A;NG_008866.1:g.102567G>A;NM_000540.2:c.11142-1224G>A;NM_001042723.1:c.11127-1224G>A 483826043 7246912 HumanOmni2.5-4v1_B_SNP19-43713746-0_T_F_1622846657 1.34e-01 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39021968G>A;NG_008866.1:g.102629G>A;NM_000540.2:c.11142-1162G>A;NM_001042723.1:c.11127-1162G>A 292248546 138065068 SNP_1754904_chr19_43713808 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39021990C>T;NG_008866.1:g.102651C>T;NM_000540.2:c.11142-1140C>T;NM_001042723.1:c.11127-1140C>T 465586958 185613439 20101123_snps_11754188_chr19_39021990 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39022086T>G;NG_008866.1:g.102747T>G;NM_000540.2:c.11142-1044T>G;NM_001042723.1:c.11127-1044T>G 340454724 147963760 20100804_snps_12098265_chr19_39022086 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39022184G>A;NG_008866.1:g.102845G>A;NM_000540.2:c.11142-946G>A;NM_001042723.1:c.11127-946G>A 465586959 190129994 20101123_snps_11754189_chr19_39022184 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39022192G>A;NG_008866.1:g.102853G>A;NM_000540.2:c.11142-938G>A;NM_001042723.1:c.11127-938G>A 340454725 141838842 20100804_snps_12098266_chr19_39022192 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39022259C>A;NG_008866.1:g.102920C>A;NM_000540.2:c.11142-871C>A;NM_001042723.1:c.11127-871C>A 228135899 114862383 pilot_1_YRI_9945582_chr19_43714099 9.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39022296C>T;NG_008866.1:g.102957C>T;NM_000540.2:c.11142-834C>T;NM_001042723.1:c.11127-834C>T 243881074 77173733 pilot_1_CHB+JPT_5766151_chr19_43714136 3.43e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39022296C>T;NG_008866.1:g.102957C>T;NM_000540.2:c.11142-834C>T;NM_001042723.1:c.11127-834C>T 283206089 77173733 GMI_AK_SNP_7526510 3.43e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022297G>A;NG_008866.1:g.102958G>A;NM_000540.2:c.11142-833G>A;NM_001042723.1:c.11127-833G>A 465586960 181732612 20101123_snps_11754190_chr19_39022297 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.39022387A>C;NG_008866.1:g.103048A>C;NM_000540.2:c.11142-743A>C;NM_001042723.1:c.11127-743A>C 21518132 12974731 WGSA-200403-chr19.chr19.NT_011109.15_11290605 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.39022390G>C;NG_008866.1:g.103051G>C;NM_000540.2:c.11142-740G>C;NM_001042723.1:c.11127-740G>C 21520282 12975377 WGSA-200403-chr19.chr19.NT_011109.15_11290608 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.39022411T>C;NG_008866.1:g.103072T>C;NM_000540.2:c.11142-719T>C;NM_001042723.1:c.11127-719T>C 21524956 12976748 WGSA-200403-chr19.chr19.NT_011109.15_11290629 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.39022414T>A;NG_008866.1:g.103075T>A;NM_000540.2:c.11142-716T>A;NM_001042723.1:c.11127-716T>A 21524984 12976758 WGSA-200403-chr19.chr19.NT_011109.15_11290632 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39022420C>T;NG_008866.1:g.103081C>T;NM_000540.2:c.11142-710C>T;NM_001042723.1:c.11127-710C>T 465586961 186343742 20101123_snps_11754191_chr19_39022420 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39022627A>G;NG_008866.1:g.103288A>G;NM_000540.2:c.11142-503A>G;NM_001042723.1:c.11127-503A>G 340454726 147107725 20100804_snps_12098267_chr19_39022627 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39022717G>A;NG_008866.1:g.103378G>A;NM_000540.2:c.11142-413G>A;NM_001042723.1:c.11127-413G>A 465586962 189537194 20101123_snps_11754192_chr19_39022717 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 111366011 73032625 CEU.trio.12.15.2008_3616687_chr19_43714563 9.94e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 208498954 73032625 BCM_CMT_1011-3123920 9.94e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 228135900 73032625 pilot_1_YRI_9945583_chr19_43714563 9.94e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 237674305 73032625 pilot_1_CEU_7278934_chr19_43714563 9.94e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 243881075 73032625 pilot_1_CHB+JPT_5766152_chr19_43714563 9.94e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39022723A>G;NG_008866.1:g.103384A>G;NM_000540.2:c.11142-407A>G;NM_001042723.1:c.11127-407A>G 283206090 73032625 GMI_AK_SNP_7526511 9.94e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.39022763_39022764insT;NG_008866.1:g.103424_103425insT;NM_000540.2:c.11142-367_11142-366insT;NM_001042723.1:c.11127-367_11127-366insT 83033704 60282937 Cor19240_DIV_20070510.chr19_43714619-43714620_1 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39022796C>G;NG_008866.1:g.103457C>G;NM_000540.2:c.11142-334C>G;NM_001042723.1:c.11127-334C>G 208550340 112437346 BCM_CMT_1011-3141441 9.94e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39022796C>G;NG_008866.1:g.103457C>G;NM_000540.2:c.11142-334C>G;NM_001042723.1:c.11127-334C>G 283206091 112437346 GMI_AK_SNP_7526512 9.94e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022796C>G;NG_008866.1:g.103457C>G;NM_000540.2:c.11142-334C>G;NM_001042723.1:c.11127-334C>G 340454727 112437346 20100804_snps_12098268_chr19_39022796 9.94e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022816C>T;NG_008866.1:g.103477C>T;NM_000540.2:c.11142-314C>T;NM_001042723.1:c.11127-314C>T 465586963 181431705 20101123_snps_11754193_chr19_39022816 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39022886C>T;NG_008866.1:g.103547C>T;NM_000540.2:c.11142-244C>T;NM_001042723.1:c.11127-244C>T 465586964 185235124 20101123_snps_11754194_chr19_39022886 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39022918C>G;NG_008866.1:g.103579C>G;NM_000540.2:c.11142-212C>G;NM_001042723.1:c.11127-212C>G 203751040 111798857 BUSHMAN-chr19-43714757 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39022918C>G;NG_008866.1:g.103579C>G;NM_000540.2:c.11142-212C>G;NM_001042723.1:c.11127-212C>G 283206092 111798857 GMI_AK_SNP_7526513 3.39e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022918C>G;NG_008866.1:g.103579C>G;NM_000540.2:c.11142-212C>G;NM_001042723.1:c.11127-212C>G 340454728 111798857 20100804_snps_12098269_chr19_39022918 3.39e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39022922C>T;NG_008866.1:g.103583C>T;NM_000540.2:c.11142-208C>T;NM_001042723.1:c.11127-208C>T 340454729 143311939 20100804_snps_12098270_chr19_39022922 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39022979T>A;NG_008866.1:g.103640T>A;NM_000540.2:c.11142-151T>A;NM_001042723.1:c.11127-151T>A 340454730 148324473 20100804_snps_12098271_chr19_39022979 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39023096C>T;NG_008866.1:g.103757C>T;NM_000540.2:c.11142-34C>T;NM_001042723.1:c.11127-34C>T 465586965 189992571 20101123_snps_11754195_chr19_39023096 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023096C>T;NG_008866.1:g.103757C>T;NM_000540.2:c.11142-34C>T;NM_001042723.1:c.11127-34C>T 491158114 189992571 20110521_exome_665912_chr19_39023096 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023107C>T;NG_008866.1:g.103768C>T;NM_000540.2:c.11142-23C>T;NM_001042723.1:c.11127-23C>T 489164632 201424015 20110521_exome_255703_chr19_39023107 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 POPS 6261 NC_000019.9:g.39023172C>T;NG_008866.1:g.103833C>T;NM_000540.2:c.11184C>T;NM_001042723.1:c.11169C>T;NP_000531.2:p.Ile3728=;NP_001036188.1:p.Ile3723= 182258914 111200476 MHY14 2009.12.18 2009.12.18 2010.06.24 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39023182G>A;NG_008866.1:g.103843G>A;NM_000540.2:c.11193+1G>A;NM_001042723.1:c.11178+1G>A 169117383 111986316 Human1M-Duov3_B_GA034501-0_T_F_1533482335 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39023195C>G;NG_008866.1:g.103856C>G;NM_000540.2:c.11193+14C>G;NM_001042723.1:c.11178+14C>G 489164634 200858399 20110521_exome_255704_chr19_39023195 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023219T>C;NG_008866.1:g.103880T>C;NM_000540.2:c.11193+38T>C;NM_001042723.1:c.11178+38T>C 489164636 199664865 20110521_exome_255705_chr19_39023219 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023225C>G;NG_008866.1:g.103886C>G;NM_000540.2:c.11193+44C>G;NM_001042723.1:c.11178+44C>G 489164638 201917782 20110521_exome_255706_chr19_39023225 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39023334G>A;NG_008866.1:g.103995G>A;NM_000540.2:c.11217G>A;NM_001042723.1:c.11202G>A;NP_000531.2:p.Gly3739=;NP_001036188.1:p.Gly3734= 342496635 148659292 ESP2500-chr19-39023334 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39023341G>A;NG_008866.1:g.104002G>A;NM_000540.2:c.11224G>A;NM_001042723.1:c.11209G>A;NP_000531.2:p.Gly3742Ser;NP_001036188.1:p.Gly3737Ser 342496636 145499779 ESP2500-chr19-39023341 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39023368T>C;NG_008866.1:g.104029T>C;NM_000540.2:c.11251T>C;NM_001042723.1:c.11236T>C;NP_000531.2:p.Ser3751Pro;NP_001036188.1:p.Ser3746Pro 489164641 201803539 20110521_exome_255707_chr19_39023368 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023387T>C;NG_008866.1:g.104048T>C;NM_000540.2:c.11259+11T>C;NM_001042723.1:c.11244+11T>C 489164643 201373677 20110521_exome_255708_chr19_39023387 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023395T>C;NG_008866.1:g.104056T>C;NM_000540.2:c.11259+19T>C;NM_001042723.1:c.11244+19T>C 489164645 200002519 20110521_exome_255709_chr19_39023395 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023550A>G;NG_008866.1:g.104211A>G;NM_000540.2:c.11259+174A>G;NM_001042723.1:c.11244+174A>G 465586966 183270891 20101123_snps_11754196_chr19_39023550 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39023665T>C;NG_008866.1:g.104326T>C;NM_000540.2:c.11259+289T>C;NM_001042723.1:c.11244+289T>C 208488208 112592402 BCM_CMT_1011-3120173 2.01e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39023665T>C;NG_008866.1:g.104326T>C;NM_000540.2:c.11259+289T>C;NM_001042723.1:c.11244+289T>C 255668900 112592402 SNP49726_19_43715505 2.01e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023665T>C;NG_008866.1:g.104326T>C;NM_000540.2:c.11259+289T>C;NM_001042723.1:c.11244+289T>C 465586967 112592402 20101123_snps_11754197_chr19_39023665 2.01e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023670delA;NG_008866.1:g.104331delA;NM_000540.2:c.11259+294delA;NM_001042723.1:c.11244+294delA 328276251 147090810 YRI_chr19_43715509_indel 4.62e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023670delA;NG_008866.1:g.104331delA;NM_000540.2:c.11259+294delA;NM_001042723.1:c.11244+294delA 499576410 147090810 20110316_indels_chr19_39023669_39023669 4.62e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39023779G>A;NG_008866.1:g.104440G>A;NM_000540.2:c.11259+403G>A;NM_001042723.1:c.11244+403G>A 203751041 112621603 BUSHMAN-chr19-43715618 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023779G>A;NG_008866.1:g.104440G>A;NM_000540.2:c.11259+403G>A;NM_001042723.1:c.11244+403G>A 243881076 112621603 pilot_1_CHB+JPT_5766153_chr19_43715619 3.39e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39023779G>A;NG_008866.1:g.104440G>A;NM_000540.2:c.11259+403G>A;NM_001042723.1:c.11244+403G>A 283206093 112621603 GMI_AK_SNP_7526514 3.39e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39023857G>C;NG_008866.1:g.104518G>C;NM_000540.2:c.11259+481G>C;NM_001042723.1:c.11244+481G>C 203751042 111403204 BUSHMAN-chr19-43715696 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023857G>C;NG_008866.1:g.104518G>C;NM_000540.2:c.11259+481G>C;NM_001042723.1:c.11244+481G>C 243881077 111403204 pilot_1_CHB+JPT_5766154_chr19_43715697 3.39e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39023857G>C;NG_008866.1:g.104518G>C;NM_000540.2:c.11259+481G>C;NM_001042723.1:c.11244+481G>C 283206094 111403204 GMI_AK_SNP_7526515 3.39e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39023865T>C;NG_008866.1:g.104526T>C;NM_000540.2:c.11259+489T>C;NM_001042723.1:c.11244+489T>C 465586968 191655457 20101123_snps_11754198_chr19_39023865 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39023905C>T;NG_008866.1:g.104566C>T;NM_000540.2:c.11259+529C>T;NM_001042723.1:c.11244+529C>T 465586969 183380937 20101123_snps_11754199_chr19_39023905 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39023992T>C;NG_008866.1:g.104653T>C;NM_000540.2:c.11259+616T>C;NM_001042723.1:c.11244+616T>C 243881078 117228790 pilot_1_CHB+JPT_5766155_chr19_43715832 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39023992T>C;NG_008866.1:g.104653T>C;NM_000540.2:c.11259+616T>C;NM_001042723.1:c.11244+616T>C 283206095 117228790 GMI_AK_SNP_7526516 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024049T>C;NG_008866.1:g.104710T>C;NM_000540.2:c.11259+673T>C;NM_001042723.1:c.11244+673T>C 465586970 188837448 20101123_snps_11754200_chr19_39024049 7.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024071A>C;NG_008866.1:g.104732A>C;NM_000540.2:c.11259+695A>C;NM_001042723.1:c.11244+695A>C 340454731 141273975 20100804_snps_12098272_chr19_39024071 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39024173T>A;NG_008866.1:g.104834T>A;NM_000540.2:c.11259+797T>A;NM_001042723.1:c.11244+797T>A 340454732 146238953 20100804_snps_12098273_chr19_39024173 2.93e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39024202C>T;NG_008866.1:g.104863C>T;NM_000540.2:c.11259+826C>T;NM_001042723.1:c.11244+826C>T 340454733 139269126 20100804_snps_12098274_chr19_39024202 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39024203G>A;NG_008866.1:g.104864G>A;NM_000540.2:c.11259+827G>A;NM_001042723.1:c.11244+827G>A 465586971 191582959 20101123_snps_11754201_chr19_39024203 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024438A>C;NG_008866.1:g.105099A>C;NM_000540.2:c.11260-922A>C;NM_001042723.1:c.11245-922A>C 465586972 182648353 20101123_snps_11754202_chr19_39024438 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024443C>G;NG_008866.1:g.105104C>G;NM_000540.2:c.11260-917C>G;NM_001042723.1:c.11245-917C>G 465586973 186536693 20101123_snps_11754203_chr19_39024443 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024456C>T;NG_008866.1:g.105117C>T;NM_000540.2:c.11260-904C>T;NM_001042723.1:c.11245-904C>T 243881079 118088580 pilot_1_CHB+JPT_5766156_chr19_43716296 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39024490A>G;NG_008866.1:g.105151A>G;NM_000540.2:c.11260-870A>G;NM_001042723.1:c.11245-870A>G 211962648 116226819 YRI.trio.3.2010_1440261_chr19_43716330 1.51e-02 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024490A>G;NG_008866.1:g.105151A>G;NM_000540.2:c.11260-870A>G;NM_001042723.1:c.11245-870A>G 228135901 116226819 pilot_1_YRI_9945584_chr19_43716330 1.51e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39024490A>G;NG_008866.1:g.105151A>G;NM_000540.2:c.11260-870A>G;NM_001042723.1:c.11245-870A>G 482355284 116226819 HumanOmni2.5-4v1_D_kgp21548624-0_T_F_1844449518 1.51e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39024490A>G;NG_008866.1:g.105151A>G;NM_000540.2:c.11260-870A>G;NM_001042723.1:c.11245-870A>G 483826045 116226819 HumanOmni2.5-4v1_B_SNP19-43716330-0_T_F_1640529416 1.51e-02 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024607A>G;NG_008866.1:g.105268A>G;NM_000540.2:c.11260-753A>G;NM_001042723.1:c.11245-753A>G 340454734 142683790 20100804_snps_12098275_chr19_39024607 1.88e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39024646delT;NG_008866.1:g.105307delT;NM_000540.2:c.11260-714delT;NM_001042723.1:c.11245-714delT 95728346 71165556 1104685411614 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39024646delT;NG_008866.1:g.105307delT;NM_000540.2:c.11260-714delT;NM_001042723.1:c.11245-714delT 96281047 71165556 1103691141897 2008.03.26 2008.03.26 2009.02.13 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39024721A>G;NG_008866.1:g.105382A>G;NM_000540.2:c.11260-639A>G;NM_001042723.1:c.11245-639A>G 6628755 4802578 NT_011109.13_1179736 3.39e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024721A>G;NG_008866.1:g.105382A>G;NM_000540.2:c.11260-639A>G;NM_001042723.1:c.11245-639A>G 465586974 4802578 20101123_snps_11754204_chr19_39024721 3.39e-02 2011.07.20 2011.07.20 2003.02.20 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39024771C>T;NG_008866.1:g.105432C>T;NM_000540.2:c.11260-589C>T;NM_001042723.1:c.11245-589C>T 6628756 4802579 NT_011109.13_1179786 3.39e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024771C>T;NG_008866.1:g.105432C>T;NM_000540.2:c.11260-589C>T;NM_001042723.1:c.11245-589C>T 340454737 4802579 20100804_snps_12098278_chr19_39024771 3.39e-02 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39024817A>G;NG_008866.1:g.105478A>G;NM_000540.2:c.11260-543A>G;NM_001042723.1:c.11245-543A>G 340454738 145536904 20100804_snps_12098279_chr19_39024817 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.39024826T>C;NG_008866.1:g.105487T>C;NM_000540.2:c.11260-534T>C;NM_001042723.1:c.11245-534T>C 35421070 28658426 TA-079.chr19_43716666 2005.03.11 2005.05.24 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39024858A>T;NG_008866.1:g.105519A>T;NM_000540.2:c.11260-502A>T;NM_001042723.1:c.11245-502A>T 465586975 185500435 20101123_snps_11754205_chr19_39024858 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024916G>A;NG_008866.1:g.105577G>A;NM_000540.2:c.11260-444G>A;NM_001042723.1:c.11245-444G>A 465586976 190424554 20101123_snps_11754206_chr19_39024916 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024969G>T;NG_008866.1:g.105630G>T;NM_000540.2:c.11260-391G>T;NM_001042723.1:c.11245-391G>T 465586977 193294411 20101123_snps_11754207_chr19_39024969 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39024985G>T;NG_008866.1:g.105646G>T;NM_000540.2:c.11260-375G>T;NM_001042723.1:c.11245-375G>T 465586978 185078774 20101123_snps_11754208_chr19_39024985 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.39025039T>A;NG_008866.1:g.105700T>A;NM_000540.2:c.11260-321T>A;NM_001042723.1:c.11245-321T>A 6628759 4802582 NT_011109.13_1180054 3.39e-02 2003.02.13 2004.04.07 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39025039T>A;NG_008866.1:g.105700T>A;NM_000540.2:c.11260-321T>A;NM_001042723.1:c.11245-321T>A 203751043 4802582 BUSHMAN-chr19-43716878 3.39e-02 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025039T>A;NG_008866.1:g.105700T>A;NM_000540.2:c.11260-321T>A;NM_001042723.1:c.11245-321T>A 243881080 4802582 pilot_1_CHB+JPT_5766157_chr19_43716879 3.39e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39025039T>A;NG_008866.1:g.105700T>A;NM_000540.2:c.11260-321T>A;NM_001042723.1:c.11245-321T>A 283206096 4802582 GMI_AK_SNP_7526517 3.39e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025057G>A;NG_008866.1:g.105718G>A;NM_000540.2:c.11260-303G>A;NM_001042723.1:c.11245-303G>A 340454739 148422868 20100804_snps_12098280_chr19_39025057 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39025110G>A;NG_008866.1:g.105771G>A;NM_000540.2:c.11260-250G>A;NM_001042723.1:c.11245-250G>A 340454740 144856224 20100804_snps_12098281_chr19_39025110 1.33e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39025131C>T;NG_008866.1:g.105792C>T;NM_000540.2:c.11260-229C>T;NM_001042723.1:c.11245-229C>T 243881081 78792317 pilot_1_CHB+JPT_5766158_chr19_43716971 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39025131C>T;NG_008866.1:g.105792C>T;NM_000540.2:c.11260-229C>T;NM_001042723.1:c.11245-229C>T 283206097 78792317 GMI_AK_SNP_7526518 2.34e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025183G>A;NG_008866.1:g.105844G>A;NM_000540.2:c.11260-177G>A;NM_001042723.1:c.11245-177G>A 340454741 147933610 20100804_snps_12098282_chr19_39025183 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 6628760 4802583 NT_011109.13_1180356 3.39e-02 2003.02.13 2004.10.21 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 66213374 4802583 SNP_A-4242209 3.39e-02 2006.10.28 2006.10.28 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 75166425 4802583 ILMN_Human_1M_rs4802583 3.39e-02 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 76359998 4802583 AFFY_6_1M_SNP_A-4242209 3.39e-02 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 82129049 4802583 KHS193406 3.39e-02 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 173821173 4802583 Human1M-Duov3_B_rs4802583-128_B_F_1514142992 3.39e-02 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 203751044 4802583 BUSHMAN-chr19-43717180 3.39e-02 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 243881082 4802583 pilot_1_CHB+JPT_5766159_chr19_43717181 3.39e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025341T>G;NG_008866.1:g.106002T>G;NM_000540.2:c.11260-19T>G;NM_001042723.1:c.11245-19T>G 491158115 4802583 20110521_exome_665913_chr19_39025341 3.39e-02 2012.02.22 2012.02.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025344C>T;NG_008866.1:g.106005C>T;NM_000540.2:c.11260-16C>T;NM_001042723.1:c.11245-16C>T 340454742 141706326 20100804_snps_12098283_chr19_39025344 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025344C>T;NG_008866.1:g.106005C>T;NM_000540.2:c.11260-16C>T;NM_001042723.1:c.11245-16C>T 491158116 141706326 20110521_exome_665914_chr19_39025344 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39025357C>G;NG_008866.1:g.106018C>G;NM_000540.2:c.11260-3C>G;NM_001042723.1:c.11245-3C>G 168988823 113923891 Human1M-Duov3_B_GA016298-0_B_F_1533446772 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 6628761 4802584 NT_011109.13_1180381 3.39e-02 unknown untested 2003.02.13 2006.10.25 2003.02.20 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 48401758 4802584 hCV25630419 3.39e-02 unknown untested 2005.11.30 2006.11.03 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 69228175 4802584 PGP04422590 3.39e-02 unknown untested 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 74807495 4802584 SNP_M-178433 3.39e-02 unknown untested 2007.08.09 2007.08.09 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 160713854 4802584 HumanOmni1-Quad_v1-0_B_rs4802584-128_T_F_1562410389 3.39e-02 germline untested 2009.08.07 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 203751045 4802584 BUSHMAN-chr19-43717205 3.39e-02 germline untested 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 243881083 4802584 pilot_1_CHB+JPT_5766160_chr19_43717206 3.39e-02 germline untested 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 283206098 4802584 GMI_AK_SNP_7526519 3.39e-02 unknown untested 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 342496637 4802584 ESP2500-chr19-39025366 3.39e-02 germline untested 2011.03.27 2011.03.27 2003.02.20 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11266C>G NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 475871658 4802584 RYR1_00194 3.39e-02 germline untested 2011.11.25 2011.11.25 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 482069614 4802584 HumanOmni1-Quad_v1-0_C_rs4802584-131_T_F_1863344443 3.39e-02 germline untested 2012.02.01 2012.02.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 491158117 4802584 20110521_exome_665915_chr19_39025366 3.39e-02 germline untested 2012.02.22 2012.02.22 2003.02.20 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 491546501 4802584 nonsyn_262727_chr_19_39025366 3.39e-02 unknown untested 2012.03.06 2012.03.06 2003.02.20 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39025366C>G;NG_008866.1:g.106027C>G;NM_000540.2:c.11266C>G;NM_001042723.1:c.11251C>G;NP_000531.2:p.Gln3756Glu;NP_001036188.1:p.Gln3751Glu 491766269 4802584 SNV-chr19-43717206 3.39e-02 germline untested 2012.03.07 2012.03.13 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025369A>G;NG_008866.1:g.106030A>G;NM_000540.2:c.11269A>G;NM_001042723.1:c.11254A>G;NP_000531.2:p.Met3757Val;NP_001036188.1:p.Met3752Val 465586979 189249768 20101123_snps_11754209_chr19_39025369 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025369A>G;NG_008866.1:g.106030A>G;NM_000540.2:c.11269A>G;NM_001042723.1:c.11254A>G;NP_000531.2:p.Met3757Val;NP_001036188.1:p.Met3752Val 491158118 189249768 20110521_exome_665916_chr19_39025369 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39025383G>A;NG_008866.1:g.106044G>A;NM_000540.2:c.11283G>A;NM_001042723.1:c.11268G>A;NP_000531.2:p.Arg3761=;NP_001036188.1:p.Arg3756= 342496638 142386815 ESP2500-chr19-39025383 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.11315G>A NC_000019.9:g.39025415G>A;NG_008866.1:g.106076G>A;NM_000540.2:c.11315G>A;NM_001042723.1:c.11300G>A;NP_000531.2:p.Arg3772Gln;NP_001036188.1:p.Arg3767Gln 475871659 193922839 RYR1_00295 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39025421C>T;NG_008866.1:g.106082C>T;NM_000540.2:c.11321C>T;NM_001042723.1:c.11306C>T;NP_000531.2:p.Ala3774Val;NP_001036188.1:p.Ala3769Val 342496639 146361173 ESP2500-chr19-39025421 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39025421C>T;NG_008866.1:g.106082C>T;NM_000540.2:c.11321C>T;NM_001042723.1:c.11306C>T;NP_000531.2:p.Ala3774Val;NP_001036188.1:p.Ala3769Val 491546502 146361173 nonsyn_262728_chr_19_39025421 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025549C>T;NG_008866.1:g.106210C>T;NM_000540.2:c.11359+90C>T;NM_001042723.1:c.11344+90C>T 465586980 181217930 20101123_snps_11754210_chr19_39025549 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39025550C>T;NG_008866.1:g.106211C>T;NM_000540.2:c.11359+91C>T;NM_001042723.1:c.11344+91C>T 340454743 147117249 20100804_snps_12098284_chr19_39025550 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39025593C>G;NG_008866.1:g.106254C>G;NM_000540.2:c.11359+134C>G;NM_001042723.1:c.11344+134C>G 340454744 151114563 20100804_snps_12098285_chr19_39025593 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39025676C>G;NG_008866.1:g.106337C>G;NM_000540.2:c.11360-105C>G;NM_001042723.1:c.11345-105C>G 168183895 79117865 NA07022_36_chr19_43717516 3.80e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025676C>G;NG_008866.1:g.106337C>G;NM_000540.2:c.11360-105C>G;NM_001042723.1:c.11345-105C>G 237674306 79117865 pilot_1_CEU_7278935_chr19_43717516 3.80e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025681A>G;NG_008866.1:g.106342A>G;NM_000540.2:c.11360-100A>G;NM_001042723.1:c.11345-100A>G 340454745 140962977 20100804_snps_12098286_chr19_39025681 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 6261 NC_000019.9:g.39025753A>T;NG_008866.1:g.106414A>T;NM_000540.2:c.11360-28A>T;NM_001042723.1:c.11345-28A>T 491766270 199592082 SNV-chr19-43717593 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025772T>A;NG_008866.1:g.106433T>A;NM_000540.2:c.11360-9T>A;NM_001042723.1:c.11345-9T>A 340454746 150187840 20100804_snps_12098287_chr19_39025772 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025772T>A;NG_008866.1:g.106433T>A;NM_000540.2:c.11360-9T>A;NM_001042723.1:c.11345-9T>A 491158119 150187840 20110521_exome_665917_chr19_39025772 5.50e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 POPS 6261 NC_000019.9:g.39025837G>A;NG_008866.1:g.106498G>A;NM_000540.2:c.11416G>A;NM_001042723.1:c.11401G>A;NP_000531.2:p.Gly3806Arg;NP_001036188.1:p.Gly3801Arg 182258915 111565359 MHY15 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39025881T>G;NG_008866.1:g.106542T>G;NM_000540.2:c.11439+21T>G;NM_001042723.1:c.11424+21T>G 340454747 138842694 20100804_snps_12098288_chr19_39025881 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025881T>G;NG_008866.1:g.106542T>G;NM_000540.2:c.11439+21T>G;NM_001042723.1:c.11424+21T>G 491158120 138842694 20110521_exome_665918_chr19_39025881 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025887G>T;NG_008866.1:g.106548G>T;NM_000540.2:c.11439+27G>T;NM_001042723.1:c.11424+27G>T 340454748 142057636 20100804_snps_12098289_chr19_39025887 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025887G>T;NG_008866.1:g.106548G>T;NM_000540.2:c.11439+27G>T;NM_001042723.1:c.11424+27G>T 491158121 142057636 20110521_exome_665919_chr19_39025887 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39025908G>C;NG_008866.1:g.106569G>C;NM_000540.2:c.11439+48G>C;NM_001042723.1:c.11424+48G>C 489164647 201880331 20110521_exome_255710_chr19_39025908 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026155G>A;NG_008866.1:g.106816G>A;NM_000540.2:c.11516+123G>A;NM_001042723.1:c.11501+123G>A 465586981 185729773 20101123_snps_11754211_chr19_39026155 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39026184A>C;NG_008866.1:g.106845A>C;NM_000540.2:c.11516+152A>C;NM_001042723.1:c.11501+152A>C 203751046 113611984 BUSHMAN-chr19-43718023 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39026308G>A;NG_008866.1:g.106969G>A;NM_000540.2:c.11516+276G>A;NM_001042723.1:c.11501+276G>A 203751047 79879493 BUSHMAN-chr19-43718147 3.39e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026308G>A;NG_008866.1:g.106969G>A;NM_000540.2:c.11516+276G>A;NM_001042723.1:c.11501+276G>A 243881084 79879493 pilot_1_CHB+JPT_5766161_chr19_43718148 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39026308G>A;NG_008866.1:g.106969G>A;NM_000540.2:c.11516+276G>A;NM_001042723.1:c.11501+276G>A 283206099 79879493 GMI_AK_SNP_7526520 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026335G>C;NG_008866.1:g.106996G>C;NM_000540.2:c.11517-302G>C;NM_001042723.1:c.11502-302G>C 340454749 145676852 20100804_snps_12098290_chr19_39026335 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 6261 NC_000019.9:g.39026372C>T;NG_008866.1:g.107033C>T;NM_000540.2:c.11517-265C>T;NM_001042723.1:c.11502-265C>T 18128000 12052068 SC-CHR1_NA11321-200402.chr19.NT_011109.15_11294590 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 ABI 6261 NC_000019.9:g.39026417T>G;NG_008866.1:g.107078T>G;NM_000540.2:c.11517-220T>G;NM_001042723.1:c.11502-220T>G 41045406 35369418 hCV32823625 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39026417T>G;NG_008866.1:g.107078T>G;NM_000540.2:c.11517-220T>G;NM_001042723.1:c.11502-220T>G 161878510 35369418 ENSSNP1527953 2009.09.26 2010.03.07 2006.03.15 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39026444C>T;NG_008866.1:g.107105C>T;NM_000540.2:c.11517-193C>T;NM_001042723.1:c.11502-193C>T 117702696 73933016 NA18507_000043937_NCBI36.1_chr19_43718284 4.60e-03 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026444C>T;NG_008866.1:g.107105C>T;NM_000540.2:c.11517-193C>T;NM_001042723.1:c.11502-193C>T 228135902 73933016 pilot_1_YRI_9945585_chr19_43718284 4.60e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39026444C>T;NG_008866.1:g.107105C>T;NM_000540.2:c.11517-193C>T;NM_001042723.1:c.11502-193C>T 482349360 73933016 HumanOmni2.5-4v1_D_kgp21515437-0_B_F_1844383149 4.60e-03 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39026444C>T;NG_008866.1:g.107105C>T;NM_000540.2:c.11517-193C>T;NM_001042723.1:c.11502-193C>T 483826047 73933016 HumanOmni2.5-4v1_B_SNP19-43718284-0_B_F_1622801009 4.60e-03 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39026508C>T;NG_008866.1:g.107169C>T;NM_000540.2:c.11517-129C>T;NM_001042723.1:c.11502-129C>T 203751048 111235642 BUSHMAN-chr19-43718347 3.70e-03 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39026508C>T;NG_008866.1:g.107169C>T;NM_000540.2:c.11517-129C>T;NM_001042723.1:c.11502-129C>T 340454750 111235642 20100804_snps_12098291_chr19_39026508 3.70e-03 2011.03.22 2011.03.22 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39026525G>C;NG_008866.1:g.107186G>C;NM_000540.2:c.11517-112G>C;NM_001042723.1:c.11502-112G>C 203751049 112112900 BUSHMAN-chr19-43718364 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026525G>C;NG_008866.1:g.107186G>C;NM_000540.2:c.11517-112G>C;NM_001042723.1:c.11502-112G>C 237674307 112112900 pilot_1_CEU_7278936_chr19_43718365 3.39e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026525G>C;NG_008866.1:g.107186G>C;NM_000540.2:c.11517-112G>C;NM_001042723.1:c.11502-112G>C 243881085 112112900 pilot_1_CHB+JPT_5766162_chr19_43718365 3.39e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39026525G>C;NG_008866.1:g.107186G>C;NM_000540.2:c.11517-112G>C;NM_001042723.1:c.11502-112G>C 283206100 112112900 GMI_AK_SNP_7526521 3.39e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026596G>A;NG_008866.1:g.107257G>A;NM_000540.2:c.11517-41G>A;NM_001042723.1:c.11502-41G>A 489164649 201032965 20110521_exome_255711_chr19_39026596 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39026637C>T;NG_008866.1:g.107298C>T;NM_000540.2:c.11517C>T;NM_001042723.1:c.11502C>T;NP_000531.2:p.Ser3839=;NP_001036188.1:p.Ser3834= 342496640 151239950 ESP2500-chr19-39026637 0 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026637C>T;NG_008866.1:g.107298C>T;NM_000540.2:c.11517C>T;NM_001042723.1:c.11502C>T;NP_000531.2:p.Ser3839=;NP_001036188.1:p.Ser3834= 489164651 151239950 20110521_exome_255712_chr19_39026637 0 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39026637C>T;NG_008866.1:g.107298C>T;NM_000540.2:c.11517C>T;NM_001042723.1:c.11502C>T;NP_000531.2:p.Ser3839=;NP_001036188.1:p.Ser3834= 491546503 151239950 splice_262729_chr_19_39026637 0 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39026638G>A;NG_008866.1:g.107299G>A;NM_000540.2:c.11518G>A;NM_001042723.1:c.11503G>A;NP_000531.2:p.Val3840Ile;NP_001036188.1:p.Val3835Ile 342496641 140616359 ESP2500-chr19-39026638 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11518G>A NC_000019.9:g.39026638G>A;NG_008866.1:g.107299G>A;NM_000540.2:c.11518G>A;NM_001042723.1:c.11503G>A;NP_000531.2:p.Val3840Ile;NP_001036188.1:p.Val3835Ile 475871660 140616359 RYR1_00127 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39026638G>A;NG_008866.1:g.107299G>A;NM_000540.2:c.11518G>A;NM_001042723.1:c.11503G>A;NP_000531.2:p.Val3840Ile;NP_001036188.1:p.Val3835Ile 491546504 140616359 splice_262730_chr_19_39026638 germline untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39026648T>C;NG_008866.1:g.107309T>C;NM_000540.2:c.11528T>C;NM_001042723.1:c.11513T>C;NP_000531.2:p.Leu3843Pro;NP_001036188.1:p.Leu3838Pro 342496642 150478499 ESP2500-chr19-39026648 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39026667G>A;NG_008866.1:g.107328G>A;NM_000540.2:c.11547G>A;NM_001042723.1:c.11532G>A;NP_000531.2:p.Gln3849=;NP_001036188.1:p.Gln3844= 340454751 142518033 20100804_snps_12098292_chr19_39026667 1.24e-02 germline untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39026667G>A;NG_008866.1:g.107328G>A;NM_000540.2:c.11547G>A;NM_001042723.1:c.11532G>A;NP_000531.2:p.Gln3849=;NP_001036188.1:p.Gln3844= 342496643 142518033 ESP2500-chr19-39026667 1.24e-02 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11547G>A NC_000019.9:g.39026667G>A;NG_008866.1:g.107328G>A;NM_000540.2:c.11547G>A;NM_001042723.1:c.11532G>A;NP_000531.2:p.Gln3849=;NP_001036188.1:p.Gln3844= 475871661 142518033 RYR1_00017 1.24e-02 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026667G>A;NG_008866.1:g.107328G>A;NM_000540.2:c.11547G>A;NM_001042723.1:c.11532G>A;NP_000531.2:p.Gln3849=;NP_001036188.1:p.Gln3844= 491158122 142518033 20110521_exome_665920_chr19_39026667 1.24e-02 germline untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39026667G>A;NG_008866.1:g.107328G>A;NM_000540.2:c.11547G>A;NM_001042723.1:c.11532G>A;NP_000531.2:p.Gln3849=;NP_001036188.1:p.Gln3844= 491766271 142518033 SNV-chr19-43718507 1.24e-02 germline untested 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39026676C>T;NG_008866.1:g.107337C>T;NM_000540.2:c.11556C>T;NM_001042723.1:c.11541C>T;NP_000531.2:p.Ala3852=;NP_001036188.1:p.Ala3847= 342496644 142947855 ESP2500-chr19-39026676 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39026677G>A;NG_008866.1:g.107338G>A;NM_000540.2:c.11557G>A;NM_001042723.1:c.11542G>A;NP_000531.2:p.Glu3853Lys;NP_001036188.1:p.Glu3848Lys 342496645 145087576 ESP2500-chr19-39026677 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39026677G>A;NG_008866.1:g.107338G>A;NM_000540.2:c.11557G>A;NM_001042723.1:c.11542G>A;NP_000531.2:p.Glu3853Lys;NP_001036188.1:p.Glu3848Lys 491546505 145087576 stopgl_262731_chr_19_39026677 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39026677G>A;NG_008866.1:g.107338G>A;NM_000540.2:c.11557G>A;NM_001042723.1:c.11542G>A;NP_000531.2:p.Glu3853Lys;NP_001036188.1:p.Glu3848Lys 491766272 145087576 SNV-chr19-43718517 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026698G>A;NG_008866.1:g.107359G>A;NM_000540.2:c.11578G>A;NM_001042723.1:c.11563G>A;NP_000531.2:p.Glu3860Lys;NP_001036188.1:p.Glu3855Lys 489164653 199737015 20110521_exome_255713_chr19_39026698 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39026711G>C;NC_000019.9:g.39026711G>T;NG_008866.1:g.107372G>C;NG_008866.1:g.107372G>T;NM_000540.2:c.11590+1G>C;NM_000540.2:c.11590+1G>T;NM_001042723.1:c.11575+1G>C;NM_001042723.1:c.11575+1G>T 168988846 113928116 Human1M-Duov3_B_GA016299-0_T_R_1533442189 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.39026711G>C;NC_000019.9:g.39026711G>T;NG_008866.1:g.107372G>C;NG_008866.1:g.107372G>T;NM_000540.2:c.11590+1G>C;NM_000540.2:c.11590+1G>T;NM_001042723.1:c.11575+1G>C;NM_001042723.1:c.11575+1G>T 203751050 113928116 BUSHMAN-chr19-43718550 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 SSAHASNP 6261 NC_000019.9:g.39026723C>T;NG_008866.1:g.107384C>T;NM_000540.2:c.11590+13C>T;NM_001042723.1:c.11575+13C>T 21535170 12979769 WGSA-200403-chr19.chr19.NT_011109.15_11294941 germline untested 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11590+13C>T NC_000019.9:g.39026723C>T;NG_008866.1:g.107384C>T;NM_000540.2:c.11590+13C>T;NM_001042723.1:c.11575+13C>T 475871662 12979769 RYR1_00382 germline untested 2011.11.25 2011.11.25 2004.04.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39026753C>T;NG_008866.1:g.107414C>T;NM_000540.2:c.11590+43C>T;NM_001042723.1:c.11575+43C>T 21535249 12979784 WGSA-200403-chr19.chr19.NT_011109.15_11294971 germline untested 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11590+43C>T NC_000019.9:g.39026753C>T;NG_008866.1:g.107414C>T;NM_000540.2:c.11590+43C>T;NM_001042723.1:c.11575+43C>T 475871663 12979784 RYR1_00383 germline untested 2011.11.25 2011.11.25 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39026922delC;NG_008866.1:g.107583delC;NM_000540.2:c.11590+212delC;NM_001042723.1:c.11575+212delC 95728347 71165557 1104685411615 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 BL 6261 NC_000019.9:g.39026922C>G;NG_008866.1:g.107583C>G;NM_000540.2:c.11590+212C>G;NM_001042723.1:c.11575+212C>G 255668905 138129508 SNP49727_19_43718762 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 BL 6261 NC_000019.9:g.39026922delC;NG_008866.1:g.107583delC;NM_000540.2:c.11590+212delC;NM_001042723.1:c.11575+212delC 256205656 71165557 SNP3820_19_43718761 2010.08.20 2010.08.20 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39026922delC;NG_008866.1:g.107583delC;NM_000540.2:c.11590+212delC;NM_001042723.1:c.11575+212delC 328276252 71165557 YRI_chr19_43718761_indel 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 BL 6261 NC_000019.9:g.39026938G>A;NG_008866.1:g.107599G>A;NM_000540.2:c.11590+228G>A;NM_001042723.1:c.11575+228G>A 255668910 150726545 SNP49728_19_43718778 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39027099G>A;NG_008866.1:g.107760G>A;NM_000540.2:c.11591-291G>A;NM_001042723.1:c.11576-291G>A 465586982 188091054 20101123_snps_11754212_chr19_39027099 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39027131C>A;NG_008866.1:g.107792C>A;NM_000540.2:c.11591-259C>A;NM_001042723.1:c.11576-259C>A 16792083 11667731 CSHL-HuAA-200402.chr19.NT_011109.15_11295349 2004.02.18 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39027136_39027137delTC;NG_008866.1:g.107797_107798delTC;NM_000540.2:c.11591-254_11591-253delTC;NM_001042723.1:c.11576-254_11576-253delTC 328032224 144742953 CEU_chr19_43718975_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39027274_39027277delTGTG;NG_008866.1:g.107935_107938delTGTG;NM_000540.2:c.11591-116_11591-113delTGTG;NM_001042723.1:c.11576-116_11576-113delTGTG 328276253 141905187 YRI_chr19_43719113_indel 1.10e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027274_39027277delTGTG;NG_008866.1:g.107935_107938delTGTG;NM_000540.2:c.11591-116_11591-113delTGTG;NM_001042723.1:c.11576-116_11576-113delTGTG 499576414 141905187 20110316_indels_chr19_39027273_39027276 1.10e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39027284T>C;NG_008866.1:g.107945T>C;NM_000540.2:c.11591-106T>C;NM_001042723.1:c.11576-106T>C 203751051 111679606 BUSHMAN-chr19-43719123 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.39027398C>T;NG_008866.1:g.108059C>T;NM_000540.2:c.11599C>T;NM_001042723.1:c.11584C>T;NP_000531.2:p.Arg3867Cys;NP_001036188.1:p.Arg3862Cys 342496646 138593495 ESP2500-chr19-39027398 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39027398C>T;NG_008866.1:g.108059C>T;NM_000540.2:c.11599C>T;NM_001042723.1:c.11584C>T;NP_000531.2:p.Arg3867Cys;NP_001036188.1:p.Arg3862Cys 491546506 138593495 nonsyn_262732_chr_19_39027398 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027451C>T;NG_008866.1:g.108112C>T;NM_000540.2:c.11608+44C>T;NM_001042723.1:c.11593+44C>T 489164655 201265835 20110521_exome_255714_chr19_39027451 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39027462C>G;NG_008866.1:g.108123C>G;NM_000540.2:c.11608+55C>G;NM_001042723.1:c.11593+55C>G 283206101 200904209 GMI_AK_SNP_7526522 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BUSHMAN 6261 NC_000019.9:g.39027479C>G;NG_008866.1:g.108140C>G;NM_000540.2:c.11608+72C>G;NM_001042723.1:c.11593+72C>G 203751052 112198494 BUSHMAN-chr19-43719318 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 3447674 2459630 AC067969.1_18049 2.20e-02 2001.09.24 2006.10.25 2001.09.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 83986880 2459630 Cor19240_SNV_20070510.chr19_43719584 2.20e-02 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 115120859 2459630 NA19240_2008_12_16_3257647_chr19_43719584 2.20e-02 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 169708596 2459630 NA19240_36_chr19_43719584 2.20e-02 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 173355647 2459630 Human1M-Duov3_B_rs2459630-128_T_F_1518141910 2.20e-02 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027744G>A;NG_008866.1:g.108405G>A;NM_000540.2:c.11608+337G>A;NM_001042723.1:c.11593+337G>A 228135904 2459630 pilot_1_YRI_9945587_chr19_43719584 2.20e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39027745G>A;NG_008866.1:g.108406G>A;NM_000540.2:c.11608+338G>A;NM_001042723.1:c.11593+338G>A 155887903 80205661 GMI_SNP_41039016 7.30e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39027745G>A;NG_008866.1:g.108406G>A;NM_000540.2:c.11608+338G>A;NM_001042723.1:c.11593+338G>A 283206102 80205661 GMI_AK_SNP_7526523 7.30e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027745G>A;NG_008866.1:g.108406G>A;NM_000540.2:c.11608+338G>A;NM_001042723.1:c.11593+338G>A 340454752 80205661 20100804_snps_12098293_chr19_39027745 7.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027787C>A;NG_008866.1:g.108448C>A;NM_000540.2:c.11608+380C>A;NM_001042723.1:c.11593+380C>A 465586983 180938605 20101123_snps_11754213_chr19_39027787 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39027830G>A;NG_008866.1:g.108491G>A;NM_000540.2:c.11608+423G>A;NM_001042723.1:c.11593+423G>A 208522215 111262200 BCM_CMT_1011-3132070 1.24e-02 2010.03.19 2010.03.19 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39027830G>A;NG_008866.1:g.108491G>A;NM_000540.2:c.11608+423G>A;NM_001042723.1:c.11593+423G>A 237674308 111262200 pilot_1_CEU_7278937_chr19_43719670 1.24e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 BL 6261 NC_000019.9:g.39027830G>A;NG_008866.1:g.108491G>A;NM_000540.2:c.11608+423G>A;NM_001042723.1:c.11593+423G>A 255668916 111262200 SNP49729_19_43719670 1.24e-02 2010.08.20 2010.08.20 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39027865_39027879delTGCGCCTGCCTCCTC;NG_008866.1:g.108526_108540delTGCGCCTGCCTCCTC;NM_000540.2:c.11608+458_11608+472delTGCGCCTGCCTCCTC;NM_001042723.1:c.11593+458_11593+472delTGCGCCTGCCTCCTC 193510360 112317711 BUSHMAN-chr19-43719704-43719719 4.40e-02 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027865_39027879delTGCGCCTGCCTCCTC;NG_008866.1:g.108526_108540delTGCGCCTGCCTCCTC;NM_000540.2:c.11608+458_11608+472delTGCGCCTGCCTCCTC;NM_001042723.1:c.11593+458_11593+472delTGCGCCTGCCTCCTC 328276254 112317711 YRI_chr19_43719704_indel 4.40e-02 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027865_39027879delTGCGCCTGCCTCCTC;NG_008866.1:g.108526_108540delTGCGCCTGCCTCCTC;NM_000540.2:c.11608+458_11608+472delTGCGCCTGCCTCCTC;NM_001042723.1:c.11593+458_11593+472delTGCGCCTGCCTCCTC 499576418 112317711 20110316_indels_chr19_39027864_39027878 4.40e-02 2012.03.20 2012.03.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027885C>A;NG_008866.1:g.108546C>A;NM_000540.2:c.11608+478C>A;NM_001042723.1:c.11593+478C>A 243881086 78492779 pilot_1_CHB+JPT_5766163_chr19_43719725 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39027885C>A;NG_008866.1:g.108546C>A;NM_000540.2:c.11608+478C>A;NM_001042723.1:c.11593+478C>A 283206103 78492779 GMI_AK_SNP_7526524 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39027935C>T;NG_008866.1:g.108596C>T;NM_000540.2:c.11608+528C>T;NM_001042723.1:c.11593+528C>T 340454753 148689362 20100804_snps_12098294_chr19_39027935 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39027997C>T;NG_008866.1:g.108658C>T;NM_000540.2:c.11609-523C>T;NM_001042723.1:c.11594-523C>T 465586984 186232189 20101123_snps_11754214_chr19_39027997 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39028073C>T;NG_008866.1:g.108734C>T;NM_000540.2:c.11609-447C>T;NM_001042723.1:c.11594-447C>T 340454754 141164060 20100804_snps_12098295_chr19_39028073 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028102C>T;NG_008866.1:g.108763C>T;NM_000540.2:c.11609-418C>T;NM_001042723.1:c.11594-418C>T 340454755 150714123 20100804_snps_12098296_chr19_39028102 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028242A>G;NG_008866.1:g.108903A>G;NM_000540.2:c.11609-278A>G;NM_001042723.1:c.11594-278A>G 465586985 191901497 20101123_snps_11754215_chr19_39028242 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39028276C>T;NG_008866.1:g.108937C>T;NM_000540.2:c.11609-244C>T;NM_001042723.1:c.11594-244C>T 340454756 138997668 20100804_snps_12098297_chr19_39028276 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028309C>T;NG_008866.1:g.108970C>T;NM_000540.2:c.11609-211C>T;NM_001042723.1:c.11594-211C>T 243881087 76293213 pilot_1_CHB+JPT_5766164_chr19_43720149 2.79e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 SSAHASNP 6261 NC_000019.9:g.39028355A>G;NG_008866.1:g.109016A>G;NM_000540.2:c.11609-165A>G;NM_001042723.1:c.11594-165A>G 35305817 28569789 TA-079.chr19_43720195 2005.03.11 2005.05.24 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39028377_39028378delGT;NG_008866.1:g.109038_109039delGT;NM_000540.2:c.11609-143_11609-142delGT;NM_001042723.1:c.11594-143_11594-142delGT 328276255 138741826 YRI_chr19_43720216_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39028387A>T;NG_008866.1:g.109048A>T;NM_000540.2:c.11609-133A>T;NM_001042723.1:c.11594-133A>T 208489229 112148182 BCM_CMT_1011-3120520 7.69e-02 2010.03.19 2010.03.19 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028387A>T;NG_008866.1:g.109048A>T;NM_000540.2:c.11609-133A>T;NM_001042723.1:c.11594-133A>T 228135906 112148182 pilot_1_YRI_9945589_chr19_43720227 7.69e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028387A>T;NG_008866.1:g.109048A>T;NM_000540.2:c.11609-133A>T;NM_001042723.1:c.11594-133A>T 237674309 112148182 pilot_1_CEU_7278938_chr19_43720227 7.69e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028387A>T;NG_008866.1:g.109048A>T;NM_000540.2:c.11609-133A>T;NM_001042723.1:c.11594-133A>T 243881088 112148182 pilot_1_CHB+JPT_5766165_chr19_43720227 7.69e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39028477G>A;NG_008866.1:g.109138G>A;NM_000540.2:c.11609-43G>A;NM_001042723.1:c.11594-43G>A 489164657 200864857 20110521_exome_255715_chr19_39028477 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028479A>C;NG_008866.1:g.109140A>C;NM_000540.2:c.11609-41A>C;NM_001042723.1:c.11594-41A>C 489164659 199660436 20110521_exome_255716_chr19_39028479 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CORNELL 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 86266174 61729397 hCV25981711 1.56e-02 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 159739643 61729397 RYR1-43720376 1.56e-02 2009.07.10 2009.07.10 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 228135907 61729397 pilot_1_YRI_9945590_chr19_43720376 1.56e-02 2010.04.22 2010.04.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 342496647 61729397 ESP2500-chr19-39028536 1.56e-02 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 482343751 61729397 HumanOmni2.5-4v1_D_kgp21484937-0_B_R_1844322154 1.56e-02 2012.02.01 2012.02.01 2008.03.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 483826049 61729397 HumanOmni2.5-4v1_B_SNP19-43720376-0_B_R_1637754741 1.56e-02 2012.02.03 2012.02.03 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028536G>A;NG_008866.1:g.109197G>A;NM_000540.2:c.11625G>A;NM_001042723.1:c.11610G>A;NP_000531.2:p.Ala3875=;NP_001036188.1:p.Ala3870= 491158123 61729397 20110521_exome_665921_chr19_39028536 1.56e-02 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39028581C>T;NG_008866.1:g.109242C>T;NM_000540.2:c.11670C>T;NM_001042723.1:c.11655C>T;NP_000531.2:p.Leu3890=;NP_001036188.1:p.Leu3885= 342496648 144452106 ESP2500-chr19-39028581 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39028601G>A;NG_008866.1:g.109262G>A;NM_000540.2:c.11689+1G>A;NM_001042723.1:c.11674+1G>A 169117396 113212383 Human1M-Duov3_B_GA034503-0_T_F_1533477175 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39028603G>T;NG_008866.1:g.109264G>T;NM_000540.2:c.11689+3G>T;NM_001042723.1:c.11674+3G>T 168988861 111733495 Human1M-Duov3_B_GA016301-0_B_F_1533443746 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39028668A>G;NG_008866.1:g.109329A>G;NM_000540.2:c.11689+68A>G;NM_001042723.1:c.11674+68A>G 203751053 113827482 BUSHMAN-chr19-43720507 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028668A>G;NG_008866.1:g.109329A>G;NM_000540.2:c.11689+68A>G;NM_001042723.1:c.11674+68A>G 243881089 113827482 pilot_1_CHB+JPT_5766166_chr19_43720508 3.39e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39028694C>G;NG_008866.1:g.109355C>G;NM_000540.2:c.11689+94C>G;NM_001042723.1:c.11674+94C>G 208543585 112783810 BCM_CMT_1011-3139183 1.24e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39028694C>G;NG_008866.1:g.109355C>G;NM_000540.2:c.11689+94C>G;NM_001042723.1:c.11674+94C>G 255668922 112783810 SNP49730_19_43720534 1.24e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028694C>G;NG_008866.1:g.109355C>G;NM_000540.2:c.11689+94C>G;NM_001042723.1:c.11674+94C>G 340454757 112783810 20100804_snps_12098298_chr19_39028694 1.24e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 2984586 2071091 IMS-JST006395 2.23e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 4171543 2071091 AC091486.2_103580 2.23e-01 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 21548117 2071091 WGSA-200403-chr19.chr19.NT_011109.15_11296977 2.23e-01 2004.03.20 2004.03.20 2001.06.15 2012.11.28 137 ABI 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 41038045 2071091 hCV26218739 2.23e-01 2005.07.17 2005.07.17 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 80895946 2071091 Cor18507_SNV_20070510.chr19_43720599 2.23e-01 2007.11.27 2007.11.27 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 83980189 2071091 Cor18555_SNV_20070510.chr19_43720599 2.23e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 117702698 2071091 NA18507_000043938_NCBI36.1_chr19_43720599 2.23e-01 2009.01.20 2009.01.20 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 168183910 2071091 NA07022_36_chr19_43720599 2.23e-01 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 169708611 2071091 NA19240_36_chr19_43720599 2.23e-01 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 203751054 2071091 BUSHMAN-chr19-43720598 2.23e-01 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 208529253 2071091 BCM_CMT_1011-3134420 2.23e-01 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 211962651 2071091 YRI.trio.3.2010_1440262_chr19_43720599 2.23e-01 2010.03.31 2010.03.31 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 228135908 2071091 pilot_1_YRI_9945591_chr19_43720599 2.23e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 237674310 2071091 pilot_1_CEU_7278939_chr19_43720599 2.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 243881090 2071091 pilot_1_CHB+JPT_5766167_chr19_43720599 2.23e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 255668927 2071091 SNP49731_19_43720599 2.23e-01 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 283206104 2071091 GMI_AK_SNP_7526525 2.23e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39028759T>C;NC_000019.9:g.39028759T>G;NG_008866.1:g.109420T>C;NG_008866.1:g.109420T>G;NM_000540.2:c.11689+159T>C;NM_000540.2:c.11689+159T>G;NM_001042723.1:c.11674+159T>C;NM_001042723.1:c.11674+159T>G 292248547 2071091 SNP_1754905_chr19_43720599 2.23e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028801G>A;NG_008866.1:g.109462G>A;NM_000540.2:c.11689+201G>A;NM_001042723.1:c.11674+201G>A 465586986 184243833 20101123_snps_11754216_chr19_39028801 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39028806G>A;NG_008866.1:g.109467G>A;NM_000540.2:c.11689+206G>A;NM_001042723.1:c.11674+206G>A 465586987 186722889 20101123_snps_11754217_chr19_39028806 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39028818T>C;NG_008866.1:g.109479T>C;NM_000540.2:c.11689+218T>C;NM_001042723.1:c.11674+218T>C 4171544 2960312 AC091486.2_103639 3.07e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39028818T>C;NG_008866.1:g.109479T>C;NM_000540.2:c.11689+218T>C;NM_001042723.1:c.11674+218T>C 169708637 2960312 NA19240_36_chr19_43720658 3.07e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39028818T>C;NG_008866.1:g.109479T>C;NM_000540.2:c.11689+218T>C;NM_001042723.1:c.11674+218T>C 340454758 2960312 20100804_snps_12098299_chr19_39028818 3.07e-02 2011.03.22 2011.03.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029053G>T;NG_008866.1:g.109714G>T;NM_000540.2:c.11689+453G>T;NM_001042723.1:c.11674+453G>T 243881091 117560848 pilot_1_CHB+JPT_5766168_chr19_43720893 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39029053G>T;NG_008866.1:g.109714G>T;NM_000540.2:c.11689+453G>T;NM_001042723.1:c.11674+453G>T 283206105 117560848 GMI_AK_SNP_7526526 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 111366019 73032627 CEU.trio.12.15.2008_3616688_chr19_43720972 7.69e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 208467408 73032627 BCM_CMT_1011-3113340 7.69e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 228135909 73032627 pilot_1_YRI_9945592_chr19_43720972 7.69e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 237674311 73032627 pilot_1_CEU_7278940_chr19_43720972 7.69e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 243881092 73032627 pilot_1_CHB+JPT_5766169_chr19_43720972 7.69e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 283206106 73032627 GMI_AK_SNP_7526527 7.69e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 483826052 73032627 HumanOmni2.5-4v1_B_SNP19-43720972-0_T_F_1622617167 7.69e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029132A>G;NG_008866.1:g.109793A>G;NM_000540.2:c.11689+532A>G;NM_001042723.1:c.11674+532A>G 483928205 73032627 HumanOmni2.5-4v1_D_kgp75441-0_T_F_1816193039 7.69e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029180A>G;NG_008866.1:g.109841A>G;NM_000540.2:c.11689+580A>G;NM_001042723.1:c.11674+580A>G 340454759 140128718 20100804_snps_12098300_chr19_39029180 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 24195825 17722057 afd1611041 2.79e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 67192610 17722057 HumanHap550v1.1_rs17722057 2.79e-02 2006.11.14 2006.11.14 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 67575899 17722057 HumanHap650Yv1.0_rs17722057 2.79e-02 2006.11.14 2006.11.14 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 68185957 17722057 HumanHap250Sv1.0_rs17722057 2.79e-02 2006.12.06 2006.12.07 2004.09.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 69228176 17722057 PGP01611041 2.79e-02 2007.01.30 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 70670766 17722057 HumanHap550v3.0__rs17722057 2.79e-02 2007.04.20 2008.03.30 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 71233140 17722057 HumanHap650Yv3.0_rs17722057 2.79e-02 2007.04.23 2007.04.23 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 75488511 17722057 ILMN_Human_1M_rs17722057 2.79e-02 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 85401137 17722057 KHS991081 2.79e-02 2007.12.09 2007.12.09 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 153712405 17722057 Human610_Quadv1_B_rs17722057-123_T_F_1502172626 2.79e-02 2009.06.19 2009.06.19 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 159325073 17722057 Human660W-Quad_v1_A_rs17722057-123_T_F_1502172626 2.79e-02 2009.07.07 2009.07.07 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 160454708 17722057 HumanOmni1-Quad_v1-0_B_rs17722057-123_T_F_1502172626 2.79e-02 2009.08.06 2009.10.02 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 172884251 17722057 Human1M-Duov3_B_rs17722057-123_T_F_1502172626 2.79e-02 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 243881093 17722057 pilot_1_CHB+JPT_5766170_chr19_43721027 2.79e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 283206107 17722057 GMI_AK_SNP_7526528 2.79e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 480275494 17722057 HumanOmni2.5-4v1_B_rs17722057-127_T_F_1501456344 2.79e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 480286658 17722057 HumanOmniExpress-12v1_C_rs17722057-131_T_F_1856993288 2.79e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 481034672 17722057 HumanOmni1-Quad_v1-0_C_rs17722057-131_T_F_1865484884 2.79e-02 2012.01.31 2012.01.31 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029187A>G;NG_008866.1:g.109848A>G;NM_000540.2:c.11689+587A>G;NM_001042723.1:c.11674+587A>G 484935699 17722057 HumanOmni2.5-4v1_D_rs17722057-131_T_F_1856993288 2.79e-02 2012.02.04 2012.02.04 2004.09.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 17620422 11881082 CSHL-HuCC-200402.chr19.NT_011109.15_11297419 7.92e-02 2004.02.19 2006.10.26 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 44167518 11881082 hCV1722528 7.92e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 66604236 11881082 HumanHap300v1.1_rs11881082 7.92e-02 2006.11.09 2006.11.09 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 66964385 11881082 HumanHap550v1.1_rs11881082 7.92e-02 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 67130887 11881082 HumanHap650Yv1.0_rs11881082 7.92e-02 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 70401514 11881082 HumanHap300v2.0_rs11881082 7.92e-02 2007.04.18 2007.11.18 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 70546556 11881082 HumanHap550v3.0__rs11881082 7.92e-02 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 71080309 11881082 HumanHap650Yv3.0_rs11881082 7.92e-02 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 75732200 11881082 ILMN_Human_1M_rs11881082 7.92e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 85155096 11881082 KHS913526 7.92e-02 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 111366027 11881082 CEU.trio.12.15.2008_3616689_chr19_43721041 7.92e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 121516001 11881082 HumanCNV370v1_C_rs11881082 7.92e-02 2009.04.14 2009.04.14 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 153083261 11881082 Human610_Quadv1_B_rs11881082-128_B_R_1501635452 7.92e-02 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 159194099 11881082 Human660W-Quad_v1_A_rs11881082-128_B_R_1501635452 7.92e-02 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 160013542 11881082 HumanOmni1-Quad_v1-0_B_rs11881082-128_B_R_1501635452 7.92e-02 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 161878511 11881082 ENSSNP1527954 7.92e-02 2009.09.26 2010.03.07 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 169986415 11881082 HumanCNV370-Quadv3_C_rs11881082-128_B_R_1501635452 7.92e-02 2009.10.01 2009.10.02 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 171677467 11881082 Human1M-Duov3_B_rs11881082-128_B_R_1501635452 7.92e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 208373450 11881082 BCM_CMT_1011-3082110 7.92e-02 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 228135910 11881082 pilot_1_YRI_9945593_chr19_43721041 7.92e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 237674312 11881082 pilot_1_CEU_7278941_chr19_43721041 7.92e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 243881094 11881082 pilot_1_CHB+JPT_5766171_chr19_43721041 7.92e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 283206108 11881082 GMI_AK_SNP_7526529 7.92e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 479618475 11881082 HumanOmni2.5-4v1_B_rs11881082-128_B_R_1772062921 7.92e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 479623697 11881082 HumanOmniExpress-12v1_C_rs11881082-131_B_R_1857346879 7.92e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 480119876 11881082 HumanOmni1-Quad_v1-0_C_rs11881082-131_B_R_1865534552 7.92e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39029201G>A;NG_008866.1:g.109862G>A;NM_000540.2:c.11689+601G>A;NM_001042723.1:c.11674+601G>A 484608019 11881082 HumanOmni2.5-4v1_D_rs11881082-131_B_R_1857346879 7.92e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029217C>T;NG_008866.1:g.109878C>T;NM_000540.2:c.11689+617C>T;NM_001042723.1:c.11674+617C>T 465586988 190542093 20101123_snps_11754218_chr19_39029217 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39029292T>G;NG_008866.1:g.109953T>G;NM_000540.2:c.11689+692T>G;NM_001042723.1:c.11674+692T>G 17613212 11878553 CSHL-HuCC-200402.chr19.NT_011109.15_11297510 5.00e-03 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 ABI 6261 NC_000019.9:g.39029292T>G;NG_008866.1:g.109953T>G;NM_000540.2:c.11689+692T>G;NM_001042723.1:c.11674+692T>G 44163766 11878553 hCV1722529 5.00e-03 2005.07.18 2006.11.03 2004.02.28 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39029292T>G;NG_008866.1:g.109953T>G;NM_000540.2:c.11689+692T>G;NM_001042723.1:c.11674+692T>G 161878512 11878553 ENSSNP1527955 5.00e-03 2009.09.26 2010.03.07 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029292T>G;NG_008866.1:g.109953T>G;NM_000540.2:c.11689+692T>G;NM_001042723.1:c.11674+692T>G 228135911 11878553 pilot_1_YRI_9945594_chr19_43721132 5.00e-03 2010.04.22 2010.04.22 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029435A>G;NG_008866.1:g.110096A>G;NM_000540.2:c.11689+835A>G;NM_001042723.1:c.11674+835A>G 340454760 145552952 20100804_snps_12098301_chr19_39029435 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029533A>G;NG_008866.1:g.110194A>G;NM_000540.2:c.11689+933A>G;NM_001042723.1:c.11674+933A>G 243881095 79900804 pilot_1_CHB+JPT_5766172_chr19_43721373 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39029533A>G;NG_008866.1:g.110194A>G;NM_000540.2:c.11689+933A>G;NM_001042723.1:c.11674+933A>G 283206109 79900804 GMI_AK_SNP_7526530 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029601C>T;NG_008866.1:g.110262C>T;NM_000540.2:c.11689+1001C>T;NM_001042723.1:c.11674+1001C>T 465586989 182378542 20101123_snps_11754219_chr19_39029601 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39029637G>C;NG_008866.1:g.110298G>C;NM_000540.2:c.11689+1037G>C;NM_001042723.1:c.11674+1037G>C 465586990 187091660 20101123_snps_11754220_chr19_39029637 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39029676_39029677insT;NG_008866.1:g.110337_110338insT;NM_000540.2:c.11689+1076_11689+1077insT;NM_001042723.1:c.11674+1076_11674+1077insT 328276256 149320949 YRI_chr19_43721517_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029676_39029677insT;NG_008866.1:g.110337_110338insT;NM_000540.2:c.11689+1076_11689+1077insT;NM_001042723.1:c.11674+1076_11674+1077insT 499576422 149320949 20110316_indels_chr19_39029677_39029678 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029693C>T;NG_008866.1:g.110354C>T;NM_000540.2:c.11689+1093C>T;NM_001042723.1:c.11674+1093C>T 340454762 149214632 20100804_snps_12098303_chr19_39029693 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39029780T>C;NG_008866.1:g.110441T>C;NM_000540.2:c.11689+1180T>C;NM_001042723.1:c.11674+1180T>C 283206110 142439297 GMI_AK_SNP_7526531 3.39e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029780T>C;NG_008866.1:g.110441T>C;NM_000540.2:c.11689+1180T>C;NM_001042723.1:c.11674+1180T>C 340454763 142439297 20100804_snps_12098304_chr19_39029780 3.39e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 3447675 2459631 AC067969.1_20093 9.29e-02 2001.09.24 2003.10.10 2001.09.28 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 12457691 2459631 chr19.NT_011109.15_11298006 9.29e-02 2003.07.04 2006.10.25 2001.09.28 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 17622233 2459631 CSHL-HuCC-200402.chr19.NT_011109.15_11298006 9.29e-02 2004.02.19 2004.03.04 2001.09.28 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 23763207 2459631 afd1611042 9.29e-02 2004.08.20 2004.09.13 2001.09.28 2011.09.09 137 ABI 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 44168073 2459631 hCV1722530 9.29e-02 2005.07.18 2005.07.18 2001.09.28 2011.09.09 137 AFFY 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 76819171 2459631 AFFY_6_1M_SNP_A-8680651 9.29e-02 2007.08.30 2007.08.30 2001.09.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 78676554 2459631 Cor18507_SNV_20070510.chr19_43721628 9.29e-02 2007.10.20 2007.10.20 2001.09.28 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 90969993 2459631 JWB-1168224 9.29e-02 2008.03.01 2008.03.01 2001.09.28 2011.09.09 137 KRIBB_YJKIM 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 104872840 2459631 KHS1265158 9.29e-02 2008.07.10 2008.07.10 2001.09.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 115120868 2459631 NA19240_2008_12_16_3257648_chr19_43721628 9.29e-02 2008.12.19 2008.12.19 2001.09.28 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 117702701 2459631 NA18507_000043939_NCBI36.1_chr19_43721628 9.29e-02 2009.01.20 2009.01.20 2001.09.28 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 136267459 2459631 ENSSNP1527956 9.29e-02 2009.05.15 2009.10.15 2001.09.28 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 137670472 2459631 ENSSNP7321655 9.29e-02 2009.05.16 2009.05.16 2001.09.28 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 169708652 2459631 NA19240_36_chr19_43721628 9.29e-02 2009.10.01 2009.10.01 2001.09.28 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 203751055 2459631 BUSHMAN-chr19-43721627 9.29e-02 2010.03.09 2010.03.09 2001.09.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 228135912 2459631 pilot_1_YRI_9945595_chr19_43721628 9.29e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 237674314 2459631 pilot_1_CEU_7278943_chr19_43721628 9.29e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 137 PJP 6261 NC_000019.9:g.39029788C>G;NG_008866.1:g.110449C>G;NM_000540.2:c.11689+1188C>G;NM_001042723.1:c.11674+1188C>G 292248548 2459631 SNP_1754906_chr19_43721628 9.29e-02 2011.01.21 2011.01.21 2001.09.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39029798A>G;NG_008866.1:g.110459A>G;NM_000540.2:c.11689+1198A>G;NM_001042723.1:c.11674+1198A>G 228135913 116377544 pilot_1_YRI_9945596_chr19_43721638 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 GMI 6261 NC_000019.9:g.39029878C>T;NG_008866.1:g.110539C>T;NM_000540.2:c.11689+1278C>T;NM_001042723.1:c.11674+1278C>T 283206111 199808443 GMI_AK_SNP_7526532 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 6261 NC_000019.9:g.39029879delT;NG_008866.1:g.110540delT;NM_000540.2:c.11689+1279delT;NM_001042723.1:c.11674+1279delT 101780109 72274315 INDEL_GP36_2008a_2814848_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39029905A>G;NG_008866.1:g.110566A>G;NM_000540.2:c.11689+1305A>G;NM_001042723.1:c.11674+1305A>G 6628765 4802587 NT_011109.13_1184920 3.48e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39029905A>G;NG_008866.1:g.110566A>G;NM_000540.2:c.11689+1305A>G;NM_001042723.1:c.11674+1305A>G 283206112 4802587 GMI_AK_SNP_7526533 3.48e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029905A>G;NG_008866.1:g.110566A>G;NM_000540.2:c.11689+1305A>G;NM_001042723.1:c.11674+1305A>G 340454764 4802587 20100804_snps_12098305_chr19_39029905 3.48e-02 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39029920G>A;NG_008866.1:g.110581G>A;NM_000540.2:c.11689+1320G>A;NM_001042723.1:c.11674+1320G>A 465586991 191144873 20101123_snps_11754221_chr19_39029920 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39029955G>A;NG_008866.1:g.110616G>A;NM_000540.2:c.11689+1355G>A;NM_001042723.1:c.11674+1355G>A 465586992 182511392 20101123_snps_11754222_chr19_39029955 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39029963C>T;NG_008866.1:g.110624C>T;NM_000540.2:c.11689+1363C>T;NM_001042723.1:c.11674+1363C>T 340454765 140460332 20100804_snps_12098306_chr19_39029963 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39030028A>G;NG_008866.1:g.110689A>G;NM_000540.2:c.11689+1428A>G;NM_001042723.1:c.11674+1428A>G 465586993 187975973 20101123_snps_11754223_chr19_39030028 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39030035T>C;NG_008866.1:g.110696T>C;NM_000540.2:c.11689+1435T>C;NM_001042723.1:c.11674+1435T>C 211962653 115404685 YRI.trio.3.2010_1440263_chr19_43721875 2.93e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39030035T>C;NG_008866.1:g.110696T>C;NM_000540.2:c.11689+1435T>C;NM_001042723.1:c.11674+1435T>C 228135914 115404685 pilot_1_YRI_9945597_chr19_43721875 2.93e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39030076A>G;NG_008866.1:g.110737A>G;NM_000540.2:c.11689+1476A>G;NM_001042723.1:c.11674+1476A>G 340454766 145701221 20100804_snps_12098307_chr19_39030076 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39030092G>C;NG_008866.1:g.110753G>C;NM_000540.2:c.11689+1492G>C;NM_001042723.1:c.11674+1492G>C 465586994 193092042 20101123_snps_11754224_chr19_39030092 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.39030132C>T;NG_008866.1:g.110793C>T;NM_000540.2:c.11689+1532C>T;NM_001042723.1:c.11674+1532C>T 6628766 4802588 NT_011109.13_1185147 3.39e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39030132C>T;NG_008866.1:g.110793C>T;NM_000540.2:c.11689+1532C>T;NM_001042723.1:c.11674+1532C>T 283206113 4802588 GMI_AK_SNP_7526534 3.39e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030132C>T;NG_008866.1:g.110793C>T;NM_000540.2:c.11689+1532C>T;NM_001042723.1:c.11674+1532C>T 340454767 4802588 20100804_snps_12098308_chr19_39030132 3.39e-02 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030177C>T;NG_008866.1:g.110838C>T;NM_000540.2:c.11689+1577C>T;NM_001042723.1:c.11674+1577C>T 228135915 116783016 pilot_1_YRI_9945598_chr19_43722017 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 6628767 4802589 NT_011109.13_1185360 3.48e-02 2003.02.13 2006.10.25 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 66301534 4802589 SNP_A-1847752 3.48e-02 2006.10.29 2008.03.31 2003.02.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 69228177 4802589 PGP06737809 3.48e-02 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 75134840 4802589 ILMN_Human_1M_rs4802589 3.48e-02 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 75973728 4802589 AFFY_6_1M_SNP_A-1847752 3.48e-02 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 82129056 4802589 KHS193407 3.48e-02 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 AFFY 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 169882165 4802589 GenomeWideSNP_5_SNP_A-1847752 3.48e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 173821176 4802589 Human1M-Duov3_B_rs4802589-128_T_F_1514108557 3.48e-02 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 243881096 4802589 pilot_1_CHB+JPT_5766173_chr19_43722185 3.48e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39030345A>G;NG_008866.1:g.111006A>G;NM_000540.2:c.11689+1745A>G;NM_001042723.1:c.11674+1745A>G 283206114 4802589 GMI_AK_SNP_7526535 3.48e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030470G>A;NG_008866.1:g.111131G>A;NM_000540.2:c.11689+1870G>A;NM_001042723.1:c.11674+1870G>A 340454768 141059031 20100804_snps_12098309_chr19_39030470 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39030533_39030560del28;NG_008866.1:g.111194_111221del28;NM_000540.2:c.11689+1933_11689+1960del28;NM_001042723.1:c.11674+1933_11674+1960del28 288525687 140823211 GMI_NA10851_INDEL_296305 2010.12.22 2010.12.22 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.39030533_39030560del28;NG_008866.1:g.111194_111221del28;NM_000540.2:c.11689+1933_11689+1960del28;NM_001042723.1:c.11674+1933_11674+1960del28 289387912 140823211 GMI_AK_INDEL_1065369 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030533_39030560del28;NG_008866.1:g.111194_111221del28;NM_000540.2:c.11689+1933_11689+1960del28;NM_001042723.1:c.11674+1933_11674+1960del28 327903814 140823211 JPTCHB_chr19_43722372_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030533_39030560del28;NG_008866.1:g.111194_111221del28;NM_000540.2:c.11689+1933_11689+1960del28;NM_001042723.1:c.11674+1933_11674+1960del28 328032226 140823211 CEU_chr19_43722372_indel 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030533_39030560del28;NG_008866.1:g.111194_111221del28;NM_000540.2:c.11689+1933_11689+1960del28;NM_001042723.1:c.11674+1933_11674+1960del28 328276257 140823211 YRI_chr19_43722372_indel 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030734_39030738delAAGTT;NG_008866.1:g.111395_111399delAAGTT;NM_000540.2:c.11689+2134_11689+2138delAAGTT;NM_001042723.1:c.11674+2134_11674+2138delAAGTT 328276258 139410809 YRI_chr19_43722573_indel 6.00e-03 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030734_39030738delAAGTT;NG_008866.1:g.111395_111399delAAGTT;NM_000540.2:c.11689+2134_11689+2138delAAGTT;NM_001042723.1:c.11674+2134_11674+2138delAAGTT 499576426 139410809 20110316_indels_chr19_39030733_39030737 6.00e-03 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030762A>G;NG_008866.1:g.111423A>G;NM_000540.2:c.11689+2162A>G;NM_001042723.1:c.11674+2162A>G 243881097 118177406 pilot_1_CHB+JPT_5766174_chr19_43722602 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39030762A>G;NG_008866.1:g.111423A>G;NM_000540.2:c.11689+2162A>G;NM_001042723.1:c.11674+2162A>G 283206115 118177406 GMI_AK_SNP_7526536 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030794T>C;NG_008866.1:g.111455T>C;NM_000540.2:c.11689+2194T>C;NM_001042723.1:c.11674+2194T>C 243881098 117155546 pilot_1_CHB+JPT_5766175_chr19_43722634 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39030794T>C;NG_008866.1:g.111455T>C;NM_000540.2:c.11689+2194T>C;NM_001042723.1:c.11674+2194T>C 283206116 117155546 GMI_AK_SNP_7526537 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030814T>C;NG_008866.1:g.111475T>C;NM_000540.2:c.11689+2214T>C;NM_001042723.1:c.11674+2214T>C 243881099 117483426 pilot_1_CHB+JPT_5766176_chr19_43722654 3.25e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39030814T>C;NG_008866.1:g.111475T>C;NM_000540.2:c.11689+2214T>C;NM_001042723.1:c.11674+2214T>C 283206117 117483426 GMI_AK_SNP_7526538 3.25e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030870T>C;NG_008866.1:g.111531T>C;NM_000540.2:c.11689+2270T>C;NM_001042723.1:c.11674+2270T>C 340454769 150134127 20100804_snps_12098310_chr19_39030870 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39030907C>G;NG_008866.1:g.111568C>G;NM_000540.2:c.11689+2307C>G;NM_001042723.1:c.11674+2307C>G 283206118 138666141 GMI_AK_SNP_7526539 3.53e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39030907C>G;NG_008866.1:g.111568C>G;NM_000540.2:c.11689+2307C>G;NM_001042723.1:c.11674+2307C>G 340454770 138666141 20100804_snps_12098311_chr19_39030907 3.53e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39030955A>C;NG_008866.1:g.111616A>C;NM_000540.2:c.11689+2355A>C;NM_001042723.1:c.11674+2355A>C 137670474 78553085 ENSSNP11444363 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.39030969A>G;NG_008866.1:g.111630A>G;NM_000540.2:c.11689+2369A>G;NM_001042723.1:c.11674+2369A>G 283206119 201855797 GMI_AK_SNP_7526540 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39030981A>G;NG_008866.1:g.111642A>G;NM_000540.2:c.11689+2381A>G;NM_001042723.1:c.11674+2381A>G 465586995 185842474 20101123_snps_11754225_chr19_39030981 1.14e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39030998A>G;NG_008866.1:g.111659A>G;NM_000540.2:c.11689+2398A>G;NM_001042723.1:c.11674+2398A>G 283206120 200390375 GMI_AK_SNP_7526541 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_JCM 6261 NC_000019.9:g.39031010A>G;NG_008866.1:g.111671A>G;NM_000540.2:c.11689+2410A>G;NM_001042723.1:c.11674+2410A>G 4171545 2960313 AC091486.2_105831 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39031027A>G;NG_008866.1:g.111688A>G;NM_000540.2:c.11689+2427A>G;NM_001042723.1:c.11674+2427A>G 283206121 200980324 GMI_AK_SNP_7526542 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_JCM 6261 NC_000019.9:g.39031039A>G;NG_008866.1:g.111700A>G;NM_000540.2:c.11689+2439A>G;NM_001042723.1:c.11674+2439A>G 4171546 2960314 AC091486.2_105860 2001.10.15 2003.10.10 2001.11.05 2011.07.08 137 GMI 6261 NC_000019.9:g.39031056A>G;NG_008866.1:g.111717A>G;NM_000540.2:c.11689+2456A>G;NM_001042723.1:c.11674+2456A>G 283206122 202097138 GMI_AK_SNP_7526543 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39031085A>G;NG_008866.1:g.111746A>G;NM_000540.2:c.11689+2485A>G;NM_001042723.1:c.11674+2485A>G 283206123 200356809 GMI_AK_SNP_7526544 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ENSEMBL 6261 NC_000019.9:g.39031097A>G;NG_008866.1:g.111758A>G;NM_000540.2:c.11689+2497A>G;NM_001042723.1:c.11674+2497A>G 161878513 78338177 ENSSNP1527957 2009.09.26 2009.09.26 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.39031114A>G;NG_008866.1:g.111775A>G;NM_000540.2:c.11689+2514A>G;NM_001042723.1:c.11674+2514A>G 283206124 201616061 GMI_AK_SNP_7526545 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ENSEMBL 6261 NC_000019.9:g.39031126A>G;NG_008866.1:g.111787A>G;NM_000540.2:c.11689+2526A>G;NM_001042723.1:c.11674+2526A>G 161878514 79091584 ENSSNP1527958 2009.09.26 2009.09.26 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39031203A>G;NG_008866.1:g.111864A>G;NM_000540.2:c.11689+2603A>G;NM_001042723.1:c.11674+2603A>G 465586996 187377342 20101123_snps_11754226_chr19_39031203 2.61e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 14718611 10419671 chr19.NT_011109.15_11299439 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 21527912 10419671 WGSA-200403-chr19.chr19.NT_011109.15_11299439 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 77122040 10419671 Cor12156_SNV_20070510.chr19_43723061 2007.10.09 2007.10.11 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 81555555 10419671 Cor18956_SNV_20070510.chr19_43723061 2007.11.30 2007.11.30 2003.12.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 90969995 10419671 JWB-1168225 2008.03.01 2008.03.01 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 96266969 10419671 1103691141902 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 136267455 10419671 ENSSNP1527959 2009.05.15 2009.10.15 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 137670477 10419671 ENSSNP6796100 2009.05.16 2009.05.16 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 168183923 10419671 NA07022_36_chr19_43723061 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 169708669 10419671 NA19240_36_chr19_43723061 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39031221T>C;NG_008866.1:g.111882T>C;NM_000540.2:c.11689+2621T>C;NM_001042723.1:c.11674+2621T>C 292248549 10419671 SNP_1754907_chr19_43723061 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39031325C>A;NG_008866.1:g.111986C>A;NM_000540.2:c.11690-2662C>A;NM_001042723.1:c.11675-2662C>A 143420998 78848966 ENSSNP5200934 2009.06.06 2009.10.17 2009.12.01 2011.09.09 137 HGSV 6261 NC_000019.9:g.39031441A>C;NG_008866.1:g.112102A>C;NM_000540.2:c.11690-2546A>C;NM_001042723.1:c.11675-2546A>C 85834936 61530199 Cor19129_SNV_20070510.chr19_43723281 2007.12.10 2007.12.10 2007.12.16 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39031441A>C;NG_008866.1:g.112102A>C;NM_000540.2:c.11690-2546A>C;NM_001042723.1:c.11675-2546A>C 96305719 61530199 1103691141901 2008.03.26 2008.03.26 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39031441A>C;NG_008866.1:g.112102A>C;NM_000540.2:c.11690-2546A>C;NM_001042723.1:c.11675-2546A>C 169708688 61530199 NA19240_36_chr19_43723281 2009.10.01 2009.10.01 2007.12.16 2011.09.09 137 PJP 6261 NC_000019.9:g.39031441A>C;NG_008866.1:g.112102A>C;NM_000540.2:c.11690-2546A>C;NM_001042723.1:c.11675-2546A>C 292248550 61530199 SNP_1754908_chr19_43723281 2011.01.21 2011.01.21 2007.12.16 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39031532G>A;NG_008866.1:g.112193G>A;NM_000540.2:c.11690-2455G>A;NM_001042723.1:c.11675-2455G>A 4171547 2960315 AC091486.2_105889 2001.10.15 2003.10.10 2001.11.05 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39031561G>A;NG_008866.1:g.112222G>A;NM_000540.2:c.11690-2426G>A;NM_001042723.1:c.11675-2426G>A 4171548 2960316 AC091486.2_105918 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39031590G>A;NG_008866.1:g.112251G>A;NM_000540.2:c.11690-2397G>A;NM_001042723.1:c.11675-2397G>A 283206125 149327412 GMI_AK_SNP_7526546 1.10e-01 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031590G>A;NG_008866.1:g.112251G>A;NM_000540.2:c.11690-2397G>A;NM_001042723.1:c.11675-2397G>A 340454771 149327412 20100804_snps_12098312_chr19_39031590 1.10e-01 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.39031612T>C;NG_008866.1:g.112273T>C;NM_000540.2:c.11690-2375T>C;NM_001042723.1:c.11675-2375T>C 283206126 144584228 GMI_AK_SNP_7526547 3.48e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031612T>C;NG_008866.1:g.112273T>C;NM_000540.2:c.11690-2375T>C;NM_001042723.1:c.11675-2375T>C 340454772 144584228 20100804_snps_12098313_chr19_39031612 3.48e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031619A>G;NG_008866.1:g.112280A>G;NM_000540.2:c.11690-2368A>G;NM_001042723.1:c.11675-2368A>G 211962655 116534638 YRI.trio.3.2010_1440264_chr19_43723459 1.74e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39031619A>G;NG_008866.1:g.112280A>G;NM_000540.2:c.11690-2368A>G;NM_001042723.1:c.11675-2368A>G 228135916 116534638 pilot_1_YRI_9945599_chr19_43723459 1.74e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39031673C>A;NG_008866.1:g.112334C>A;NM_000540.2:c.11690-2314C>A;NM_001042723.1:c.11675-2314C>A 203751056 113185010 BUSHMAN-chr19-43723512 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39031714G>A;NG_008866.1:g.112375G>A;NM_000540.2:c.11690-2273G>A;NM_001042723.1:c.11675-2273G>A 228135917 115755496 pilot_1_YRI_9945600_chr19_43723554 2.52e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39031732C>T;NG_008866.1:g.112393C>T;NM_000540.2:c.11690-2255C>T;NM_001042723.1:c.11675-2255C>T 211962657 116386806 YRI.trio.3.2010_1440265_chr19_43723572 5.00e-03 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031732C>T;NG_008866.1:g.112393C>T;NM_000540.2:c.11690-2255C>T;NM_001042723.1:c.11675-2255C>T 340454773 116386806 20100804_snps_12098314_chr19_39031732 5.00e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031755T>A;NG_008866.1:g.112416T>A;NM_000540.2:c.11690-2232T>A;NM_001042723.1:c.11675-2232T>A 228135918 78242182 pilot_1_YRI_9945601_chr19_43723595 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031786G>C;NG_008866.1:g.112447G>C;NM_000540.2:c.11690-2201G>C;NM_001042723.1:c.11675-2201G>C 340454774 78312940 20100804_snps_12098315_chr19_39031786 1.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031787A>T;NG_008866.1:g.112448A>T;NM_000540.2:c.11690-2200A>T;NM_001042723.1:c.11675-2200A>T 465586997 192157531 20101123_snps_11754227_chr19_39031787 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39031823C>T;NG_008866.1:g.112484C>T;NM_000540.2:c.11690-2164C>T;NM_001042723.1:c.11675-2164C>T 237674316 76462525 pilot_1_CEU_7278945_chr19_43723663 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031823C>T;NG_008866.1:g.112484C>T;NM_000540.2:c.11690-2164C>T;NM_001042723.1:c.11675-2164C>T 243881100 76462525 pilot_1_CHB+JPT_5766177_chr19_43723663 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39031823C>T;NG_008866.1:g.112484C>T;NM_000540.2:c.11690-2164C>T;NM_001042723.1:c.11675-2164C>T 283206127 76462525 GMI_AK_SNP_7526548 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031862A>G;NG_008866.1:g.112523A>G;NM_000540.2:c.11690-2125A>G;NM_001042723.1:c.11675-2125A>G 340454775 147179222 20100804_snps_12098316_chr19_39031862 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39031866C>T;NG_008866.1:g.112527C>T;NM_000540.2:c.11690-2121C>T;NM_001042723.1:c.11675-2121C>T 465586998 184042012 20101123_snps_11754228_chr19_39031866 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39031913A>G;NG_008866.1:g.112574A>G;NM_000540.2:c.11690-2074A>G;NM_001042723.1:c.11675-2074A>G 243881101 117128115 pilot_1_CHB+JPT_5766178_chr19_43723753 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39031913A>G;NG_008866.1:g.112574A>G;NM_000540.2:c.11690-2074A>G;NM_001042723.1:c.11675-2074A>G 283206128 117128115 GMI_AK_SNP_7526549 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39031918C>A;NG_008866.1:g.112579C>A;NM_000540.2:c.11690-2069C>A;NM_001042723.1:c.11675-2069C>A 243881102 118087063 pilot_1_CHB+JPT_5766179_chr19_43723758 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39031918C>A;NG_008866.1:g.112579C>A;NM_000540.2:c.11690-2069C>A;NM_001042723.1:c.11675-2069C>A 283206129 118087063 GMI_AK_SNP_7526550 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032012T>C;NG_008866.1:g.112673T>C;NM_000540.2:c.11690-1975T>C;NM_001042723.1:c.11675-1975T>C 340454776 140380826 20100804_snps_12098317_chr19_39032012 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 10918245 7245673 chr19.NT_011109.15_11300280 4.99e-02 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 23763209 7245673 afd1611043 4.99e-02 2004.08.20 2004.09.13 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 66168531 7245673 SNP_A-2187163 4.99e-02 2006.10.27 2008.03.31 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 76219347 7245673 AFFY_6_1M_SNP_A-2187163 4.99e-02 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 82413219 7245673 KHS247189 4.99e-02 2007.12.02 2007.12.02 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 85879450 7245673 Cor19129_SNV_20070510.chr19_43723902 4.99e-02 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 115120871 7245673 NA19240_2008_12_16_3257649_chr19_43723902 4.99e-02 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 169708715 7245673 NA19240_36_chr19_43723902 4.99e-02 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 AFFY 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 172857612 7245673 GenomeWideSNP_5_SNP_A-2187163 4.99e-02 2009.10.02 2009.10.02 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 203751057 7245673 BUSHMAN-chr19-43723901 4.99e-02 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032062A>C;NG_008866.1:g.112723A>C;NM_000540.2:c.11690-1925A>C;NM_001042723.1:c.11675-1925A>C 228135919 7245673 pilot_1_YRI_9945602_chr19_43723902 4.99e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.39032094A>G;NG_008866.1:g.112755A>G;NM_000540.2:c.11690-1893A>G;NM_001042723.1:c.11675-1893A>G 2867316 1964085 TSC0336760 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 GMI 6261 NC_000019.9:g.39032094A>G;NG_008866.1:g.112755A>G;NM_000540.2:c.11690-1893A>G;NM_001042723.1:c.11675-1893A>G 283206130 1964085 GMI_AK_SNP_7526551 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 7982396 5029199 DB_1_809414 2.22e-01 2003.03.17 2003.10.10 2003.03.31 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 10918657 5029199 chr19.NT_011109.15_11300339 2.22e-01 2003.06.30 2003.10.10 2003.03.31 2012.11.28 137 HGSV 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 80144530 5029199 Cor18507_SNV_20070510.chr19_43723961 2.22e-01 2007.11.24 2007.11.24 2003.03.31 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 90969998 5029199 JWB-1168226 2.22e-01 2008.03.01 2008.03.01 2003.03.31 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 137670480 5029199 ENSSNP11444365 2.22e-01 2009.05.16 2009.05.16 2003.03.31 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 143704084 5029199 ENSSNP9853485 2.22e-01 2009.06.06 2009.10.17 2003.03.31 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 168183935 5029199 NA07022_36_chr19_43723961 2.22e-01 2009.09.30 2009.09.30 2003.03.31 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 169708731 5029199 NA19240_36_chr19_43723961 2.22e-01 2009.10.01 2009.10.01 2003.03.31 2012.11.28 137 BL 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 255668932 5029199 SNP49732_19_43723961 2.22e-01 2010.08.20 2010.08.20 2003.03.31 2012.11.28 137 GMI 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 283206131 5029199 GMI_AK_SNP_7526552 2.22e-01 2010.12.16 2010.12.16 2003.03.31 2012.11.28 137 PJP 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 292248551 5029199 SNP_1754909_chr19_43723961 2.22e-01 2011.01.21 2011.01.21 2003.03.31 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032121C>T;NG_008866.1:g.112782C>T;NM_000540.2:c.11690-1866C>T;NM_001042723.1:c.11675-1866C>T 340454777 5029199 20100804_snps_12098318_chr19_39032121 2.22e-01 2011.03.22 2011.03.22 2003.03.31 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39032213G>A;NG_008866.1:g.112874G>A;NM_000540.2:c.11690-1774G>A;NM_001042723.1:c.11675-1774G>A 7982397 5029200 DB_1_809415 2003.03.17 2003.10.10 2003.03.31 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39032213G>A;NG_008866.1:g.112874G>A;NM_000540.2:c.11690-1774G>A;NM_001042723.1:c.11675-1774G>A 10919314 5029200 chr19.NT_011109.15_11300431 2003.06.30 2003.11.06 2003.03.31 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39032213G>A;NG_008866.1:g.112874G>A;NM_000540.2:c.11690-1774G>A;NM_001042723.1:c.11675-1774G>A 137670484 5029200 ENSSNP11444366 2009.05.16 2009.05.16 2003.03.31 2012.11.28 137 BL 6261 NC_000019.9:g.39032213G>A;NG_008866.1:g.112874G>A;NM_000540.2:c.11690-1774G>A;NM_001042723.1:c.11675-1774G>A 255668935 5029200 SNP49733_19_43724053 2010.08.20 2010.08.20 2003.03.31 2012.11.28 137 GMI 6261 NC_000019.9:g.39032213G>A;NG_008866.1:g.112874G>A;NM_000540.2:c.11690-1774G>A;NM_001042723.1:c.11675-1774G>A 283206132 5029200 GMI_AK_SNP_7526553 2010.12.16 2010.12.16 2003.03.31 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39032225G>T;NG_008866.1:g.112886G>T;NM_000540.2:c.11690-1762G>T;NM_001042723.1:c.11675-1762G>T 7982398 5029201 DB_1_809416 2003.03.17 2003.10.10 2003.03.31 2011.07.08 137 BL 6261 NC_000019.9:g.39032225G>T;NG_008866.1:g.112886G>T;NM_000540.2:c.11690-1762G>T;NM_001042723.1:c.11675-1762G>T 255668941 5029201 SNP49734_19_43724065 2010.08.20 2010.08.20 2003.03.31 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39032226C>T;NG_008866.1:g.112887C>T;NM_000540.2:c.11690-1761C>T;NM_001042723.1:c.11675-1761C>T 7982399 5029202 DB_1_809417 2003.03.17 2003.10.10 2003.03.31 2011.09.03 137 BL 6261 NC_000019.9:g.39032226C>T;NG_008866.1:g.112887C>T;NM_000540.2:c.11690-1761C>T;NM_001042723.1:c.11675-1761C>T 255668946 5029202 SNP49735_19_43724066 2010.08.20 2010.08.20 2003.03.31 2011.09.03 137 DEVINE_LAB 6261 NC_000019.9:g.39032228T>C;NG_008866.1:g.112889T>C;NM_000540.2:c.11690-1759T>C;NM_001042723.1:c.11675-1759T>C 7982400 5029203 DB_1_809418 2003.03.17 2003.10.10 2003.03.31 2011.09.03 137 BL 6261 NC_000019.9:g.39032228T>C;NG_008866.1:g.112889T>C;NM_000540.2:c.11690-1759T>C;NM_001042723.1:c.11675-1759T>C 255668952 5029203 SNP49736_19_43724068 2010.08.20 2010.08.20 2003.03.31 2011.09.03 137 1000GENOMES 6261 NC_000019.9:g.39032237T>C;NG_008866.1:g.112898T>C;NM_000540.2:c.11690-1750T>C;NM_001042723.1:c.11675-1750T>C 465586999 188627630 20101123_snps_11754229_chr19_39032237 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39032238C>G;NG_008866.1:g.112899C>G;NM_000540.2:c.11690-1749C>G;NM_001042723.1:c.11675-1749C>G 340454781 145844324 20100804_snps_12098322_chr19_39032238 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39032246C>A;NG_008866.1:g.112907C>A;NM_000540.2:c.11690-1741C>A;NM_001042723.1:c.11675-1741C>A 465587000 181521321 20101123_snps_11754230_chr19_39032246 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39032283G>A;NG_008866.1:g.112944G>A;NM_000540.2:c.11690-1704G>A;NM_001042723.1:c.11675-1704G>A 340454782 140553330 20100804_snps_12098323_chr19_39032283 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39032292T>G;NG_008866.1:g.112953T>G;NM_000540.2:c.11690-1695T>G;NM_001042723.1:c.11675-1695T>G 283206133 144200243 GMI_AK_SNP_7526554 3.39e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032292T>G;NG_008866.1:g.112953T>G;NM_000540.2:c.11690-1695T>G;NM_001042723.1:c.11675-1695T>G 340454783 144200243 20100804_snps_12098324_chr19_39032292 3.39e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032355_39032356insA;NG_008866.1:g.113016_113017insA;NM_000540.2:c.11690-1632_11690-1631insA;NM_001042723.1:c.11675-1632_11675-1631insA 327903819 141230545 JPTCHB_chr19_43724195_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39032365_39032366insA;NG_008866.1:g.113026_113027insA;NM_000540.2:c.11690-1622_11690-1621insA;NM_001042723.1:c.11675-1622_11675-1621insA 289387913 201237970 GMI_AK_INDEL_1065370 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39032401A>T;NG_008866.1:g.113062A>T;NM_000540.2:c.11690-1586A>T;NM_001042723.1:c.11675-1586A>T 243881103 116870167 pilot_1_CHB+JPT_5766180_chr19_43724241 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39032401A>T;NG_008866.1:g.113062A>T;NM_000540.2:c.11690-1586A>T;NM_001042723.1:c.11675-1586A>T 283206134 116870167 GMI_AK_SNP_7526555 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032431A>C;NG_008866.1:g.113092A>C;NM_000540.2:c.11690-1556A>C;NM_001042723.1:c.11675-1556A>C 243881104 117966243 pilot_1_CHB+JPT_5766181_chr19_43724271 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39032431A>C;NG_008866.1:g.113092A>C;NM_000540.2:c.11690-1556A>C;NM_001042723.1:c.11675-1556A>C 283206135 117966243 GMI_AK_SNP_7526556 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032438C>T;NG_008866.1:g.113099C>T;NM_000540.2:c.11690-1549C>T;NM_001042723.1:c.11675-1549C>T 465587001 184345143 20101123_snps_11754231_chr19_39032438 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39032453C>T;NG_008866.1:g.113114C>T;NM_000540.2:c.11690-1534C>T;NM_001042723.1:c.11675-1534C>T 243881105 79542126 pilot_1_CHB+JPT_5766182_chr19_43724293 3.71e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39032453C>T;NG_008866.1:g.113114C>T;NM_000540.2:c.11690-1534C>T;NM_001042723.1:c.11675-1534C>T 283206136 79542126 GMI_AK_SNP_7526557 3.71e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032460T>C;NG_008866.1:g.113121T>C;NM_000540.2:c.11690-1527T>C;NM_001042723.1:c.11675-1527T>C 465587002 189626073 20101123_snps_11754232_chr19_39032460 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39032485G>A;NG_008866.1:g.113146G>A;NM_000540.2:c.11690-1502G>A;NM_001042723.1:c.11675-1502G>A 465587003 181951306 20101123_snps_11754233_chr19_39032485 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39032525C>T;NG_008866.1:g.113186C>T;NM_000540.2:c.11690-1462C>T;NM_001042723.1:c.11675-1462C>T 111366036 73032630 CEU.trio.12.15.2008_3616690_chr19_43724365 4.58e-02 2008.12.17 2008.12.17 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39032525C>T;NG_008866.1:g.113186C>T;NM_000540.2:c.11690-1462C>T;NM_001042723.1:c.11675-1462C>T 237674317 73032630 pilot_1_CEU_7278946_chr19_43724365 4.58e-02 2010.05.01 2010.05.01 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39032620G>A;NG_008866.1:g.113281G>A;NM_000540.2:c.11690-1367G>A;NM_001042723.1:c.11675-1367G>A 243881106 117887280 pilot_1_CHB+JPT_5766183_chr19_43724460 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39032620G>A;NG_008866.1:g.113281G>A;NM_000540.2:c.11690-1367G>A;NM_001042723.1:c.11675-1367G>A 283206137 117887280 GMI_AK_SNP_7526558 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39032706_39032707insA;NG_008866.1:g.113367_113368insA;NM_000540.2:c.11690-1281_11690-1280insA;NM_001042723.1:c.11675-1281_11675-1280insA 96281048 74176449 1103691141903 2008.03.26 2008.03.26 2009.02.16 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39032706C>A;NG_008866.1:g.113367C>A;NM_000540.2:c.11690-1281C>A;NM_001042723.1:c.11675-1281C>A 137670487 74703652 ENSSNP11444367 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39032707_39032708insA;NG_008866.1:g.113368_113369insA;NM_000540.2:c.11690-1280_11690-1279insA;NM_001042723.1:c.11675-1280_11675-1279insA 95728348 71165558 1104685411619 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39032708A>C;NG_008866.1:g.113369A>C;NM_000540.2:c.11690-1279A>C;NM_001042723.1:c.11675-1279A>C 137670489 79169372 ENSSNP11444368 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39032720A>T;NG_008866.1:g.113381A>T;NM_000540.2:c.11690-1267A>T;NM_001042723.1:c.11675-1267A>T 137670492 76983391 ENSSNP11444369 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39032735C>T;NG_008866.1:g.113396C>T;NM_000540.2:c.11690-1252C>T;NM_001042723.1:c.11675-1252C>T 228135921 114048954 pilot_1_YRI_9945604_chr19_43724575 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39032806C>T;NG_008866.1:g.113467C>T;NM_000540.2:c.11690-1181C>T;NM_001042723.1:c.11675-1181C>T 19404305 12461789 CSHL-HuDD-200402.chr19.NT_011109.15_11301024 3.43e-02 2004.02.21 2006.10.26 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39032806C>T;NG_008866.1:g.113467C>T;NM_000540.2:c.11690-1181C>T;NM_001042723.1:c.11675-1181C>T 243881107 12461789 pilot_1_CHB+JPT_5766184_chr19_43724646 3.43e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39032879A>C;NG_008866.1:g.113540A>C;NM_000540.2:c.11690-1108A>C;NM_001042723.1:c.11675-1108A>C 465587004 186271749 20101123_snps_11754234_chr19_39032879 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 24195830 17795068 afd1611044 7.65e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 69228178 17795068 PGP01611044 7.65e-02 2007.01.30 2008.03.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 111366042 17795068 CEU.trio.12.15.2008_3616691_chr19_43724752 7.65e-02 2008.12.17 2008.12.17 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 208479185 17795068 BCM_CMT_1011-3117165 7.65e-02 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 228135922 17795068 pilot_1_YRI_9945605_chr19_43724752 7.65e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 237674318 17795068 pilot_1_CEU_7278947_chr19_43724752 7.65e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 243881108 17795068 pilot_1_CHB+JPT_5766185_chr19_43724752 7.65e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39032912T>C;NG_008866.1:g.113573T>C;NM_000540.2:c.11690-1075T>C;NM_001042723.1:c.11675-1075T>C 283206138 17795068 GMI_AK_SNP_7526559 7.65e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 19397493 12459780 CSHL-HuDD-200402.chr19.NT_011109.15_11301246 3.39e-02 2004.02.21 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 21543944 12459780 WGSA-200403-chr19.chr19.NT_011109.15_11301246 3.39e-02 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 41044905 12459780 hCV30930829 3.39e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 161878515 12459780 ENSSNP1527960 3.39e-02 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 243881109 12459780 pilot_1_CHB+JPT_5766186_chr19_43724868 3.39e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39033028T>C;NG_008866.1:g.113689T>C;NM_000540.2:c.11690-959T>C;NM_001042723.1:c.11675-959T>C 283206139 12459780 GMI_AK_SNP_7526560 3.39e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39033072T>C;NG_008866.1:g.113733T>C;NM_000540.2:c.11690-915T>C;NM_001042723.1:c.11675-915T>C 24195832 17795079 afd1611045 2.79e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033072T>C;NG_008866.1:g.113733T>C;NM_000540.2:c.11690-915T>C;NM_001042723.1:c.11675-915T>C 243881110 17795079 pilot_1_CHB+JPT_5766187_chr19_43724912 2.79e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39033072T>C;NG_008866.1:g.113733T>C;NM_000540.2:c.11690-915T>C;NM_001042723.1:c.11675-915T>C 283206140 17795079 GMI_AK_SNP_7526561 2.79e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ABI 6261 NC_000019.9:g.39033180C>T;NG_008866.1:g.113841C>T;NM_000540.2:c.11690-807C>T;NM_001042723.1:c.11675-807C>T 41053980 34754809 hCV26218740 3.39e-02 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39033180C>T;NG_008866.1:g.113841C>T;NM_000540.2:c.11690-807C>T;NM_001042723.1:c.11675-807C>T 161878516 34754809 ENSSNP1527961 3.39e-02 2009.09.26 2009.09.26 2006.03.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39033180C>T;NG_008866.1:g.113841C>T;NM_000540.2:c.11690-807C>T;NM_001042723.1:c.11675-807C>T 283206141 34754809 GMI_AK_SNP_7526562 3.39e-02 2010.12.16 2010.12.16 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033180C>T;NG_008866.1:g.113841C>T;NM_000540.2:c.11690-807C>T;NM_001042723.1:c.11675-807C>T 340454784 34754809 20100804_snps_12098325_chr19_39033180 3.39e-02 2011.03.22 2011.03.22 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033220A>T;NG_008866.1:g.113881A>T;NM_000540.2:c.11690-767A>T;NM_001042723.1:c.11675-767A>T 465587005 190390563 20101123_snps_11754235_chr19_39033220 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 21541106 12981483 WGSA-200403-chr19.chr19.NT_011109.15_11301478 9.16e-02 2004.03.20 2004.03.20 2004.04.05 2011.09.09 137 ABI 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 40999069 12981483 hCV30930830 9.16e-02 2005.07.17 2005.07.17 2004.04.05 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 90970000 12981483 JWB-1168227 9.16e-02 2008.03.01 2008.03.01 2004.04.05 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 96305720 12981483 1103691141904 9.16e-02 2008.03.26 2008.03.26 2004.04.05 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 132762474 12981483 ENSSNP1527962 9.16e-02 2009.05.12 2009.10.15 2004.04.05 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 203751058 12981483 BUSHMAN-chr19-43725099 9.16e-02 2010.03.09 2010.03.09 2004.04.05 2011.09.09 137 PJP 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 292248552 12981483 SNP_1754910_chr19_43725100 9.16e-02 2011.01.21 2011.01.21 2004.04.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39033260G>A;NG_008866.1:g.113921G>A;NM_000540.2:c.11690-727G>A;NM_001042723.1:c.11675-727G>A 340454785 12981483 20100804_snps_12098326_chr19_39033260 9.16e-02 2011.03.22 2011.03.22 2004.04.05 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39033319T>C;NG_008866.1:g.113980T>C;NM_000540.2:c.11690-668T>C;NM_001042723.1:c.11675-668T>C 19397678 12459845 CSHL-HuDD-200402.chr19.NT_011109.15_11301537 3.39e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39033319T>C;NG_008866.1:g.113980T>C;NM_000540.2:c.11690-668T>C;NM_001042723.1:c.11675-668T>C 41004497 12459845 hCV1722534 3.39e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39033319T>C;NG_008866.1:g.113980T>C;NM_000540.2:c.11690-668T>C;NM_001042723.1:c.11675-668T>C 161878517 12459845 ENSSNP1527964 3.39e-02 2009.09.26 2010.03.07 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39033319T>C;NG_008866.1:g.113980T>C;NM_000540.2:c.11690-668T>C;NM_001042723.1:c.11675-668T>C 283206142 12459845 GMI_AK_SNP_7526563 3.39e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033319T>C;NG_008866.1:g.113980T>C;NM_000540.2:c.11690-668T>C;NM_001042723.1:c.11675-668T>C 340454786 12459845 20100804_snps_12098327_chr19_39033319 3.39e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033450C>T;NG_008866.1:g.114111C>T;NM_000540.2:c.11690-537C>T;NM_001042723.1:c.11675-537C>T 340454787 148251714 20100804_snps_12098328_chr19_39033450 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.39033454C>T;NG_008866.1:g.114115C>T;NM_000540.2:c.11690-533C>T;NM_001042723.1:c.11675-533C>T 255668955 145337905 SNP49737_19_43725294 3.80e-02 2010.08.20 2010.08.20 2011.05.09 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39033454C>T;NG_008866.1:g.114115C>T;NM_000540.2:c.11690-533C>T;NM_001042723.1:c.11675-533C>T 340454788 145337905 20100804_snps_12098329_chr19_39033454 3.80e-02 2011.03.22 2011.03.22 2011.05.09 2011.10.06 137 MPI_MOLGEN 6261 NC_000019.9:g.39033454C>T;NG_008866.1:g.114115C>T;NM_000540.2:c.11690-533C>T;NM_001042723.1:c.11675-533C>T 469257096 145337905 Chromosome19_43725294 3.80e-02 2011.08.15 2011.08.15 2011.05.09 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 21540643 12981340 WGSA-200403-chr19.chr19.NT_011109.15_11301675 2.51e-01 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 41023967 12981340 hCV26218741 2.51e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 82181752 12981340 Cor18555_SNV_20070510.chr19_43725297 2.51e-01 2007.12.02 2007.12.02 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 96305721 12981340 1103691141905 2.51e-01 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 132762478 12981340 ENSSNP1527965 2.51e-01 2009.05.12 2009.10.15 2004.04.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 203751059 12981340 BUSHMAN-chr19-43725296 2.51e-01 2010.03.09 2010.03.09 2004.04.05 2012.11.28 137 BL 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 255668962 12981340 SNP49738_19_43725297 2.51e-01 2010.08.20 2010.08.20 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 283206143 12981340 GMI_AK_SNP_7526564 2.51e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 292248553 12981340 SNP_1754911_chr19_43725297 2.51e-01 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033457A>G;NG_008866.1:g.114118A>G;NM_000540.2:c.11690-530A>G;NM_001042723.1:c.11675-530A>G 340454789 12981340 20100804_snps_12098330_chr19_39033457 2.51e-01 2011.03.22 2011.03.22 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39033680C>G;NG_008866.1:g.114341C>G;NM_000540.2:c.11690-307C>G;NM_001042723.1:c.11675-307C>G 82633357 58875004 Cor18555_SNV_20070510.chr19_43725520 7.55e-02 2007.12.03 2007.12.03 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39033680C>G;NG_008866.1:g.114341C>G;NM_000540.2:c.11690-307C>G;NM_001042723.1:c.11675-307C>G 283206144 58875004 GMI_AK_SNP_7526565 7.55e-02 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033680C>G;NG_008866.1:g.114341C>G;NM_000540.2:c.11690-307C>G;NM_001042723.1:c.11675-307C>G 340454790 58875004 20100804_snps_12098331_chr19_39033680 7.55e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39033752A>G;NG_008866.1:g.114413A>G;NM_000540.2:c.11690-235A>G;NM_001042723.1:c.11675-235A>G 203751060 113529339 BUSHMAN-chr19-43725591 3.39e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39033752A>G;NG_008866.1:g.114413A>G;NM_000540.2:c.11690-235A>G;NM_001042723.1:c.11675-235A>G 283206145 113529339 GMI_AK_SNP_7526566 3.39e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39033752A>G;NG_008866.1:g.114413A>G;NM_000540.2:c.11690-235A>G;NM_001042723.1:c.11675-235A>G 340454791 113529339 20100804_snps_12098332_chr19_39033752 3.39e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 ABI 6261 NC_000019.9:g.39033772_39033773insG;NG_008866.1:g.114433_114434insG;NM_000540.2:c.11690-215_11690-214insG;NM_001042723.1:c.11675-215_11675-214insG 40973766 35242048 hCV32823630 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39033988T>C;NG_008866.1:g.114649T>C;NM_000540.2:c.11691T>C;NM_001042723.1:c.11676T>C;NP_000531.2:p.Asp3897=;NP_001036188.1:p.Asp3892= 489164661 201588544 20110521_exome_255717_chr19_39033988 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39033988T>C;NG_008866.1:g.114649T>C;NM_000540.2:c.11691T>C;NM_001042723.1:c.11676T>C;NP_000531.2:p.Asp3897=;NP_001036188.1:p.Asp3892= 491546507 201588544 splice_262733_chr_19_39033988 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034005G>A;NG_008866.1:g.114666G>A;NM_000540.2:c.11708G>A;NM_001042723.1:c.11693G>A;NP_000531.2:p.Arg3903Gln;NP_001036188.1:p.Arg3898Gln 342496649 148399313 ESP2500-chr19-39034005 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11708G>A NC_000019.9:g.39034005G>A;NG_008866.1:g.114666G>A;NM_000540.2:c.11708G>A;NM_001042723.1:c.11693G>A;NP_000531.2:p.Arg3903Gln;NP_001036188.1:p.Arg3898Gln 475871667 148399313 RYR1_00150 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034009A>G;NG_008866.1:g.114670A>G;NM_000540.2:c.11712A>G;NM_001042723.1:c.11697A>G;NP_000531.2:p.Thr3904=;NP_001036188.1:p.Thr3899= 491766273 199855195 SNV-chr19-43725849 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034020A>G;NG_008866.1:g.114681A>G;NM_000540.2:c.11723A>G;NM_001042723.1:c.11708A>G;NP_000531.2:p.Asn3908Ser;NP_001036188.1:p.Asn3903Ser 342496650 141803364 ESP2500-chr19-39034020 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034028A>G;NG_008866.1:g.114689A>G;NM_000540.2:c.11731A>G;NM_001042723.1:c.11716A>G;NP_000531.2:p.Thr3911Ala;NP_001036188.1:p.Thr3906Ala 491766274 200622493 SNV-chr19-43725868 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034032T>A;NG_008866.1:g.114693T>A;NM_000540.2:c.11735T>A;NM_001042723.1:c.11720T>A;NP_000531.2:p.Ile3912Asn;NP_001036188.1:p.Ile3907Asn 342496651 150588606 ESP2500-chr19-39034032 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.11748T>G NC_000019.9:g.39034045T>G;NG_008866.1:g.114706T>G;NM_000540.2:c.11748T>G;NM_001042723.1:c.11733T>G;NP_000531.2:p.Ile3916Met;NP_001036188.1:p.Ile3911Met 475871668 193922840 RYR1_00025 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 SI_EXO 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 69380535 45613041 NT_011109.15_11302269 3.39e-02 unknown untested 2007.04.12 2007.04.12 2007.05.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 160687872 45613041 HumanOmni1-Quad_v1-0_B_rs45613041-128_T_F_1562414271 3.39e-02 germline untested 2009.08.06 2009.10.04 2007.05.18 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 203751061 45613041 BUSHMAN-chr19-43725890 3.39e-02 germline untested 2010.03.09 2010.03.09 2007.05.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 243881111 45613041 pilot_1_CHB+JPT_5766188_chr19_43725891 3.39e-02 unknown untested 2010.05.01 2010.05.01 2007.05.18 2012.11.28 137 GMI 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 283206146 45613041 GMI_AK_SNP_7526567 3.39e-02 unknown untested 2010.12.16 2010.12.16 2007.05.18 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 342496652 45613041 ESP2500-chr19-39034051 3.39e-02 germline untested 2011.03.27 2011.03.27 2007.05.18 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11754T>A NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 475871669 45613041 RYR1_00241 3.39e-02 unknown untested 2011.11.25 2011.11.25 2007.05.18 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 481965550 45613041 HumanOmni1-Quad_v1-0_C_rs45613041-131_T_F_1863329346 3.39e-02 unknown untested 2012.02.01 2012.02.01 2007.05.18 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 491158124 45613041 20110521_exome_665922_chr19_39034051 3.39e-02 germline untested 2012.02.22 2012.02.22 2007.05.18 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034051T>A;NG_008866.1:g.114712T>A;NM_000540.2:c.11754T>A;NM_001042723.1:c.11739T>A;NP_000531.2:p.Thr3918=;NP_001036188.1:p.Thr3913= 491766275 45613041 SNV-chr19-43725891 3.39e-02 germline untested 2012.03.07 2012.03.13 2007.05.18 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11778G>A NC_000019.9:g.39034075G>A;NG_008866.1:g.114736G>A;NM_000540.2:c.11778G>A;NM_001042723.1:c.11763G>A;NP_000531.2:p.Gln3926=;NP_001036188.1:p.Gln3921= 475871670 193922841 RYR1_00315 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39034191A>G;NG_008866.1:g.114852A>G;NM_000540.2:c.11798A>G;NM_001042723.1:c.11783A>G;NP_000531.2:p.Tyr3933Cys;NP_001036188.1:p.Tyr3928Cys 340454792 147136339 20100804_snps_12098333_chr19_39034191 3.70e-03 germline untested 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034191A>G;NG_008866.1:g.114852A>G;NM_000540.2:c.11798A>G;NM_001042723.1:c.11783A>G;NP_000531.2:p.Tyr3933Cys;NP_001036188.1:p.Tyr3928Cys 342496653 147136339 ESP2500-chr19-39034191 3.70e-03 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11798A>G NC_000019.9:g.39034191A>G;NG_008866.1:g.114852A>G;NM_000540.2:c.11798A>G;NM_001042723.1:c.11783A>G;NP_000531.2:p.Tyr3933Cys;NP_001036188.1:p.Tyr3928Cys 475871671 147136339 RYR1_00260 3.70e-03 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034191A>G;NG_008866.1:g.114852A>G;NM_000540.2:c.11798A>G;NM_001042723.1:c.11783A>G;NP_000531.2:p.Tyr3933Cys;NP_001036188.1:p.Tyr3928Cys 491158125 147136339 20110521_exome_665923_chr19_39034191 3.70e-03 unknown untested 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39034191A>G;NG_008866.1:g.114852A>G;NM_000540.2:c.11798A>G;NM_001042723.1:c.11783A>G;NP_000531.2:p.Tyr3933Cys;NP_001036188.1:p.Tyr3928Cys 491546508 147136339 nonsyn_262734_chr_19_39034191 3.70e-03 germline untested 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034315C>T;NG_008866.1:g.114976C>T;NM_000540.2:c.11907+15C>T;NM_001042723.1:c.11892+15C>T 489164663 200813231 20110521_exome_255718_chr19_39034315 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 69379901 45555835 NT_011109.15_11302540 4.85e-02 2007.04.12 2007.04.12 2007.05.17 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 168183948 45555835 NA07022_36_chr19_43726162 4.85e-02 2009.09.30 2009.09.30 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 228135923 45555835 pilot_1_YRI_9945606_chr19_43726162 4.85e-02 2010.04.22 2010.04.22 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 237674319 45555835 pilot_1_CEU_7278948_chr19_43726162 4.85e-02 2010.05.01 2010.05.01 2007.05.17 2012.11.28 137 BL 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 255668966 45555835 SNP49739_19_43726162 4.85e-02 2010.08.20 2010.08.20 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 491158126 45555835 20110521_exome_665924_chr19_39034322 4.85e-02 2012.02.22 2012.02.22 2007.05.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034322G>A;NG_008866.1:g.114983G>A;NM_000540.2:c.11907+22G>A;NM_001042723.1:c.11892+22G>A 491766276 45555835 SNV-chr19-43726162 4.85e-02 2012.03.07 2012.03.13 2007.05.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034327T>G;NG_008866.1:g.114988T>G;NM_000540.2:c.11907+27T>G;NM_001042723.1:c.11892+27T>G 489164666 201376562 20110521_exome_255719_chr19_39034327 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034350C>T;NG_008866.1:g.115011C>T;NM_000540.2:c.11907+50C>T;NM_001042723.1:c.11892+50C>T 489164668 200422653 20110521_exome_255720_chr19_39034350 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034350C>T;NG_008866.1:g.115011C>T;NM_000540.2:c.11907+50C>T;NM_001042723.1:c.11892+50C>T 491766277 200422653 SNV-chr19-43726190 0 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 3235614 2292797 IMS-JST045699 3.39e-02 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 283206147 2292797 GMI_AK_SNP_7526568 3.39e-02 germline untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 340454793 2292797 20100804_snps_12098334_chr19_39034386 3.39e-02 unknown untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11908-25C>G NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 475871664 2292797 RYR1_00385 3.39e-02 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 491158127 2292797 20110521_exome_665925_chr19_39034386 3.39e-02 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034386C>G;NG_008866.1:g.115047C>G;NM_000540.2:c.11908-25C>G;NM_001042723.1:c.11893-25C>G 491766278 2292797 SNV-chr19-43726226 3.39e-02 unknown untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034387C>G;NG_008866.1:g.115048C>G;NM_000540.2:c.11908-24C>G;NM_001042723.1:c.11893-24C>G 228135924 76698386 pilot_1_YRI_9945607_chr19_43726227 5.00e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034387C>G;NG_008866.1:g.115048C>G;NM_000540.2:c.11908-24C>G;NM_001042723.1:c.11893-24C>G 491158128 76698386 20110521_exome_665926_chr19_39034387 5.00e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 3235615 2292798 IMS-JST045700 3.39e-02 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 283206148 2292798 GMI_AK_SNP_7526569 3.39e-02 germline untested 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 340454794 2292798 20100804_snps_12098335_chr19_39034388 3.39e-02 germline untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11908-23C>T NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 475871665 2292798 RYR1_00386 3.39e-02 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 491158129 2292798 20110521_exome_665927_chr19_39034388 3.39e-02 unknown untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034388C>T;NG_008866.1:g.115049C>T;NM_000540.2:c.11908-23C>T;NM_001042723.1:c.11893-23C>T 491766279 2292798 SNV-chr19-43726228 3.39e-02 unknown untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 3235616 2292799 IMS-JST045701 3.39e-02 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SI_EXO 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 69380316 2292799 NT_011109.15_11302615 3.39e-02 germline untested 2007.04.12 2007.04.12 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 203751062 2292799 BUSHMAN-chr19-43726236 3.39e-02 germline untested 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 340454795 2292799 20100804_snps_12098336_chr19_39034397 3.39e-02 germline untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11908-14A>G NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 475871666 2292799 RYR1_00384 3.39e-02 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 491158130 2292799 20110521_exome_665928_chr19_39034397 3.39e-02 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39034397A>G;NG_008866.1:g.115058A>G;NM_000540.2:c.11908-14A>G;NM_001042723.1:c.11893-14A>G 491766280 2292799 SNV-chr19-43726237 3.39e-02 germline untested 2012.03.07 2012.03.13 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39034425G>T;NG_008866.1:g.115086G>T;NM_000540.2:c.11922G>T;NM_001042723.1:c.11907G>T;NP_000531.2:p.Gly3974=;NP_001036188.1:p.Gly3969= 90970003 62119053 JWB-2965867 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39034425G>T;NG_008866.1:g.115086G>T;NM_000540.2:c.11922G>T;NM_001042723.1:c.11907G>T;NP_000531.2:p.Gly3974=;NP_001036188.1:p.Gly3969= 137670496 62119053 ENSSNP6528963 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39034444C>T;NG_008866.1:g.115105C>T;NM_000540.2:c.11941C>T;NM_001042723.1:c.11926C>T;NP_000531.2:p.His3981Tyr;NP_001036188.1:p.His3976Tyr 340454796 148772854 20100804_snps_12098337_chr19_39034444 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39034444C>T;NG_008866.1:g.115105C>T;NM_000540.2:c.11941C>T;NM_001042723.1:c.11926C>T;NP_000531.2:p.His3981Tyr;NP_001036188.1:p.His3976Tyr 342496654 148772854 ESP2500-chr19-39034444 5.00e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034444C>T;NG_008866.1:g.115105C>T;NM_000540.2:c.11941C>T;NM_001042723.1:c.11926C>T;NP_000531.2:p.His3981Tyr;NP_001036188.1:p.His3976Tyr 491158131 148772854 20110521_exome_665929_chr19_39034444 5.00e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39034444C>T;NG_008866.1:g.115105C>T;NM_000540.2:c.11941C>T;NM_001042723.1:c.11926C>T;NP_000531.2:p.His3981Tyr;NP_001036188.1:p.His3976Tyr 491546509 148772854 nonsyn_262735_chr_19_39034444 5.00e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 MHVIENNA 6261 NM_000540.2:c.11953T>C NC_000019.9:g.39034456T>C;NG_008866.1:g.115117T>C;NM_000540.2:c.11953T>C;NM_001042723.1:c.11938T>C;NP_000531.2:p.Trp3985Arg;NP_001036188.1:p.Trp3980Arg 252841650 118204422 3985 trp>arg somatic probable-pathogenic 2010.08.12 2010.08.12 2010.08.12 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11953T>C NC_000019.9:g.39034456T>C;NG_008866.1:g.115117T>C;NM_000540.2:c.11953T>C;NM_001042723.1:c.11938T>C;NP_000531.2:p.Trp3985Arg;NP_001036188.1:p.Trp3980Arg 475871673 118204422 RYR1_00302 germline probable-pathogenic 2011.11.25 2011.11.25 2010.08.12 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.11958C>G NC_000019.9:g.39034461C>G;NG_008866.1:g.115122C>G;NM_000540.2:c.11958C>G;NM_001042723.1:c.11943C>G;NP_000531.2:p.Asp3986Glu;NP_001036188.1:p.Asp3981Glu 475871674 193922842 RYR1_00224 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.11969G>T NC_000019.9:g.39034472G>T;NG_008866.1:g.115133G>T;NM_000540.2:c.11969G>T;NM_001042723.1:c.11954G>T;NP_000531.2:p.Gly3990Val;NP_001036188.1:p.Gly3985Val 475871675 193922843 RYR1_00232 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.39034517T>A;NG_008866.1:g.115178T>A;NM_000540.2:c.12012+2T>A;NM_001042723.1:c.11997+2T>A 169117413 113129205 Human1M-Duov3_B_GA034505-0_B_F_1533481910 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39034533C>A;NG_008866.1:g.115194C>A;NM_000540.2:c.12012+18C>A;NM_001042723.1:c.11997+18C>A 211962659 116792069 YRI.trio.3.2010_1440266_chr19_43726373 1.42e-02 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034533C>A;NG_008866.1:g.115194C>A;NM_000540.2:c.12012+18C>A;NM_001042723.1:c.11997+18C>A 228135925 116792069 pilot_1_YRI_9945608_chr19_43726373 1.42e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034533C>A;NG_008866.1:g.115194C>A;NM_000540.2:c.12012+18C>A;NM_001042723.1:c.11997+18C>A 491158132 116792069 20110521_exome_665930_chr19_39034533 1.42e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034534T>C;NG_008866.1:g.115195T>C;NM_000540.2:c.12012+19T>C;NM_001042723.1:c.11997+19T>C 465587006 181590606 20101123_snps_11754236_chr19_39034534 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034534T>C;NG_008866.1:g.115195T>C;NM_000540.2:c.12012+19T>C;NM_001042723.1:c.11997+19T>C 491158133 181590606 20110521_exome_665931_chr19_39034534 5.00e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034585delC;NG_008866.1:g.115246delC;NM_000540.2:c.12012+70delC;NM_001042723.1:c.11997+70delC 328276259 142517959 YRI_chr19_43726424_indel 2.15e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034585delC;NG_008866.1:g.115246delC;NM_000540.2:c.12012+70delC;NM_001042723.1:c.11997+70delC 499576430 142517959 20110316_indels_chr19_39034584_39034584 2.15e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39034612G>A;NG_008866.1:g.115273G>A;NM_000540.2:c.12012+97G>A;NM_001042723.1:c.11997+97G>A 168183958 78884140 NA07022_36_chr19_43726452 3.80e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034612G>A;NG_008866.1:g.115273G>A;NM_000540.2:c.12012+97G>A;NM_001042723.1:c.11997+97G>A 237674320 78884140 pilot_1_CEU_7278949_chr19_43726452 3.80e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.39034612G>A;NG_008866.1:g.115273G>A;NM_000540.2:c.12012+97G>A;NM_001042723.1:c.11997+97G>A 255668970 78884140 SNP49740_19_43726452 3.80e-02 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39034612G>A;NG_008866.1:g.115273G>A;NM_000540.2:c.12012+97G>A;NM_001042723.1:c.11997+97G>A 469257097 78884140 Chromosome19_43726452 3.80e-02 2011.08.15 2011.08.15 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034682C>G;NG_008866.1:g.115343C>G;NM_000540.2:c.12012+167C>G;NM_001042723.1:c.11997+167C>G 465587007 186000941 20101123_snps_11754237_chr19_39034682 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 3235617 2292800 IMS-JST045702 3.39e-02 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 203751063 2292800 BUSHMAN-chr19-43726610 3.39e-02 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 243881112 2292800 pilot_1_CHB+JPT_5766189_chr19_43726611 3.39e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 283206149 2292800 GMI_AK_SNP_7526570 3.39e-02 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 482342523 2292800 HumanOmni2.5-4v1_D_kgp21477449-0_T_R_1844307178 3.39e-02 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034771T>C;NG_008866.1:g.115432T>C;NM_000540.2:c.12012+256T>C;NM_001042723.1:c.11997+256T>C 483826056 2292800 HumanOmni2.5-4v1_B_SNP19-43726611-0_T_R_1647582108 3.39e-02 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 3235618 2292801 IMS-JST045703 3.39e-02 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 67243423 2292801 HumanHap550v1.1_rs2292801 3.39e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 67640278 2292801 HumanHap650Yv1.0_rs2292801 3.39e-02 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 68201724 2292801 HumanHap250Sv1.0_rs2292801 3.39e-02 2006.12.06 2006.12.07 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 70721763 2292801 HumanHap550v3.0__rs2292801 3.39e-02 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 71290198 2292801 HumanHap650Yv3.0_rs2292801 3.39e-02 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 75464594 2292801 ILMN_Human_1M_rs2292801 3.39e-02 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 84025302 2292801 KHS605532 3.39e-02 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 153900669 2292801 Human610_Quadv1_B_rs2292801-100_B_F_1502187236 3.39e-02 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 159378490 2292801 Human660W-Quad_v1_A_rs2292801-100_B_F_1502187236 3.39e-02 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 173262469 2292801 Human1M-Duov3_B_rs2292801-100_B_F_1502187236 3.39e-02 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 203751064 2292801 BUSHMAN-chr19-43726675 3.39e-02 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 243881113 2292801 pilot_1_CHB+JPT_5766190_chr19_43726676 3.39e-02 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39034836T>C;NG_008866.1:g.115497T>C;NM_000540.2:c.12012+321T>C;NM_001042723.1:c.11997+321T>C 283206150 2292801 GMI_AK_SNP_7526571 3.39e-02 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39034841A>T;NG_008866.1:g.115502A>T;NM_000540.2:c.12012+326A>T;NM_001042723.1:c.11997+326A>T 465587008 190019959 20101123_snps_11754238_chr19_39034841 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39034896T>C;NG_008866.1:g.115557T>C;NM_000540.2:c.12012+381T>C;NM_001042723.1:c.11997+381T>C 340454797 142399278 20100804_snps_12098338_chr19_39034896 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39034936T>C;NG_008866.1:g.115597T>C;NM_000540.2:c.12012+421T>C;NM_001042723.1:c.11997+421T>C 228135926 115401047 pilot_1_YRI_9945609_chr19_43726776 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 14892495 10500279 PS01611046 7.74e-02 2003.11.13 2004.04.07 2003.12.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 24195834 10500279 afd1611046 7.74e-02 2004.08.21 2004.09.13 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 65943740 10500279 SNP_A-1743243 7.74e-02 2006.10.26 2006.10.26 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 66503526 10500279 SNP_A-4207415 7.74e-02 2006.10.29 2008.03.31 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 76326392 10500279 AFFY_6_1M_SNP_A-4207415 7.74e-02 2007.08.30 2007.08.30 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 82174568 10500279 Cor18555_SNV_20070510.chr19_43726908 7.74e-02 2007.12.02 2010.03.07 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 82733736 10500279 KHS313696 7.74e-02 2007.12.03 2007.12.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 111366050 10500279 CEU.trio.12.15.2008_3616692_chr19_43726908 7.74e-02 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 173269482 10500279 GenomeWideSNP_5_SNP_A-4207415 7.74e-02 2009.10.03 2009.10.03 2003.12.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 208416863 10500279 BCM_CMT_1011-3096525 7.74e-02 2010.03.19 2010.03.19 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 228135927 10500279 pilot_1_YRI_9945610_chr19_43726908 7.74e-02 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 237674321 10500279 pilot_1_CEU_7278950_chr19_43726908 7.74e-02 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 243881114 10500279 pilot_1_CHB+JPT_5766191_chr19_43726908 7.74e-02 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39035068G>C;NG_008866.1:g.115729G>C;NM_000540.2:c.12012+553G>C;NM_001042723.1:c.11997+553G>C 283206151 10500279 GMI_AK_SNP_7526572 7.74e-02 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035154C>T;NG_008866.1:g.115815C>T;NM_000540.2:c.12012+639C>T;NM_001042723.1:c.11997+639C>T 340454798 146407054 20100804_snps_12098339_chr19_39035154 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39035259C>T;NG_008866.1:g.115920C>T;NM_000540.2:c.12012+744C>T;NM_001042723.1:c.11997+744C>T 243881115 79499196 pilot_1_CHB+JPT_5766192_chr19_43727099 2.79e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39035259C>T;NG_008866.1:g.115920C>T;NM_000540.2:c.12012+744C>T;NM_001042723.1:c.11997+744C>T 283206152 79499196 GMI_AK_SNP_7526573 2.79e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 4973197 3786830 IMS-JST143581 3.34e-02 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 19408812 3786830 CSHL-HuDD-200402.chr19.NT_011109.15_11303488 3.34e-02 2004.02.21 2006.10.26 2002.08.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 41016683 3786830 hCV1722535 3.34e-02 2005.07.17 2005.07.17 2002.08.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 75926617 3786830 AFFY_6_1M_SNP_A-1782603 3.34e-02 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 81956872 3786830 KHS166603 3.34e-02 2007.12.01 2007.12.01 2002.08.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 161878518 3786830 ENSSNP1527966 3.34e-02 2009.09.26 2010.03.07 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 243881116 3786830 pilot_1_CHB+JPT_5766193_chr19_43727110 3.34e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39035270A>G;NG_008866.1:g.115931A>G;NM_000540.2:c.12012+755A>G;NM_001042723.1:c.11997+755A>G 283206153 3786830 GMI_AK_SNP_7526574 3.34e-02 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035356T>C;NG_008866.1:g.116017T>C;NM_000540.2:c.12012+841T>C;NM_001042723.1:c.11997+841T>C 465587009 183446009 20101123_snps_11754239_chr19_39035356 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39035363G>A;NG_008866.1:g.116024G>A;NM_000540.2:c.12012+848G>A;NM_001042723.1:c.11997+848G>A 340454799 139746747 20100804_snps_12098340_chr19_39035363 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39035427T>G;NG_008866.1:g.116088T>G;NM_000540.2:c.12012+912T>G;NM_001042723.1:c.11997+912T>G 137670499 74997501 ENSSNP11444371 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39035437C>G;NG_008866.1:g.116098C>G;NM_000540.2:c.12012+922C>G;NM_001042723.1:c.11997+922C>G 11336043 7508614 chr19.NT_011109.15_11303655 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035612G>A;NG_008866.1:g.116273G>A;NM_000540.2:c.12012+1097G>A;NM_001042723.1:c.11997+1097G>A 237674322 79812031 pilot_1_CEU_7278951_chr19_43727452 4.10e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39035612G>A;NG_008866.1:g.116273G>A;NM_000540.2:c.12012+1097G>A;NM_001042723.1:c.11997+1097G>A 483826058 79812031 HumanOmni2.5-4v1_B_SNP19-43727452-0_T_F_1644408960 4.10e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39035612G>A;NG_008866.1:g.116273G>A;NM_000540.2:c.12012+1097G>A;NM_001042723.1:c.11997+1097G>A 484064534 79812031 HumanOmni2.5-4v1_D_kgp8295931-0_T_F_1816445183 4.10e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035690T>G;NG_008866.1:g.116351T>G;NM_000540.2:c.12012+1175T>G;NM_001042723.1:c.11997+1175T>G 228135928 78929299 pilot_1_YRI_9945611_chr19_43727530 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39035715A>G;NG_008866.1:g.116376A>G;NM_000540.2:c.12012+1200A>G;NM_001042723.1:c.11997+1200A>G 137670502 78498108 ENSSNP11444372 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39035805T>C;NG_008866.1:g.116466T>C;NM_000540.2:c.12013-1280T>C;NM_001042723.1:c.11998-1280T>C 243881117 78864041 pilot_1_CHB+JPT_5766194_chr19_43727645 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39035805T>C;NG_008866.1:g.116466T>C;NM_000540.2:c.12013-1280T>C;NM_001042723.1:c.11998-1280T>C 283206154 78864041 GMI_AK_SNP_7526575 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035812A>G;NG_008866.1:g.116473A>G;NM_000540.2:c.12013-1273A>G;NM_001042723.1:c.11998-1273A>G 243881118 117207125 pilot_1_CHB+JPT_5766195_chr19_43727652 3.48e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39035812A>G;NG_008866.1:g.116473A>G;NM_000540.2:c.12013-1273A>G;NM_001042723.1:c.11998-1273A>G 283206155 117207125 GMI_AK_SNP_7526576 3.48e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035826T>C;NG_008866.1:g.116487T>C;NM_000540.2:c.12013-1259T>C;NM_001042723.1:c.11998-1259T>C 243881119 75360090 pilot_1_CHB+JPT_5766196_chr19_43727666 2.79e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39035826T>C;NG_008866.1:g.116487T>C;NM_000540.2:c.12013-1259T>C;NM_001042723.1:c.11998-1259T>C 283206156 75360090 GMI_AK_SNP_7526577 2.79e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035866G>A;NG_008866.1:g.116527G>A;NM_000540.2:c.12013-1219G>A;NM_001042723.1:c.11998-1219G>A 243881120 77133616 pilot_1_CHB+JPT_5766197_chr19_43727706 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39035866G>A;NG_008866.1:g.116527G>A;NM_000540.2:c.12013-1219G>A;NM_001042723.1:c.11998-1219G>A 283206157 77133616 GMI_AK_SNP_7526578 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39035915G>A;NG_008866.1:g.116576G>A;NM_000540.2:c.12013-1170G>A;NM_001042723.1:c.11998-1170G>A 243881121 80285228 pilot_1_CHB+JPT_5766198_chr19_43727755 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39035915G>A;NG_008866.1:g.116576G>A;NM_000540.2:c.12013-1170G>A;NM_001042723.1:c.11998-1170G>A 283206158 80285228 GMI_AK_SNP_7526579 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 4171549 2960317 AC091486.2_110505 2.90e-01 2001.10.15 2004.10.21 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 23763223 2960317 afd1611048 2.90e-01 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 44180560 2960317 hCV26218742 2.90e-01 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 69228179 2960317 PGP01611048 2.90e-01 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 76582006 2960317 AFFY_6_1M_SNP_A-8443064 2.90e-01 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 90970006 2960317 JWB-1168228 2.90e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 96305722 2960317 1103691141906 2.90e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 104884437 2960317 KHS1276755 2.90e-01 2008.07.10 2008.07.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 111366058 2960317 CEU.trio.12.15.2008_3616693_chr19_43727851 2.90e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 115120896 2960317 NA19240_2008_12_16_3257652_chr19_43727851 2.90e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 117702703 2960317 NA18507_000043940_NCBI36.1_chr19_43727851 2.90e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 137670504 2960317 ENSSNP7283909 2.90e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 144103622 2960317 ENSSNP10075660 2.90e-01 2009.06.06 2009.10.17 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 168183973 2960317 NA07022_36_chr19_43727851 2.90e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 169708745 2960317 NA19240_36_chr19_43727851 2.90e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 203751065 2960317 BUSHMAN-chr19-43727850 2.90e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 208495182 2960317 BCM_CMT_1011-3122603 2.90e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 228135929 2960317 pilot_1_YRI_9945612_chr19_43727851 2.90e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 237674323 2960317 pilot_1_CEU_7278952_chr19_43727851 2.90e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 243881122 2960317 pilot_1_CHB+JPT_5766199_chr19_43727851 2.90e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 255668975 2960317 SNP49741_19_43727851 2.90e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 283206159 2960317 GMI_AK_SNP_7526580 2.90e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39036011G>C;NG_008866.1:g.116672G>C;NM_000540.2:c.12013-1074G>C;NM_001042723.1:c.11998-1074G>C 292248554 2960317 SNP_1754912_chr19_43727851 2.90e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036126C>T;NG_008866.1:g.116787C>T;NM_000540.2:c.12013-959C>T;NM_001042723.1:c.11998-959C>T 340454800 144221774 20100804_snps_12098341_chr19_39036126 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 4171550 2960318 AC091486.2_110685 2.52e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 41034391 2960318 hCV26218743 2.52e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 90970008 2960318 JWB-1168229 2.52e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 96305723 2960318 1103691141907 2.52e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 117702704 2960318 NA18507_000043941_NCBI36.1_chr19_43728031 2.52e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 137670507 2960318 ENSSNP6420301 2.52e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 142807563 2960318 ENSSNP9405336 2.52e-01 2009.06.05 2009.10.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 168183985 2960318 NA07022_36_chr19_43728031 2.52e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 169708760 2960318 NA19240_36_chr19_43728031 2.52e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 203751066 2960318 BUSHMAN-chr19-43728030 2.52e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 228135930 2960318 pilot_1_YRI_9945613_chr19_43728031 2.52e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 237674324 2960318 pilot_1_CEU_7278953_chr19_43728031 2.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 243881123 2960318 pilot_1_CHB+JPT_5766200_chr19_43728031 2.52e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 255668980 2960318 SNP49742_19_43728031 2.52e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 283206160 2960318 GMI_AK_SNP_7526581 2.52e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39036191A>G;NG_008866.1:g.116852A>G;NM_000540.2:c.12013-894A>G;NM_001042723.1:c.11998-894A>G 292248555 2960318 SNP_1754913_chr19_43728031 2.52e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39036221delG;NG_008866.1:g.116882delG;NM_000540.2:c.12013-864delG;NM_001042723.1:c.11998-864delG 41003845 34837753 hCV32823633 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39036223C>T;NG_008866.1:g.116884C>T;NM_000540.2:c.12013-862C>T;NM_001042723.1:c.11998-862C>T 465587010 187561712 20101123_snps_11754240_chr19_39036223 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39036297_39036298insC;NG_008866.1:g.116958_116959insC;NM_000540.2:c.12013-788_12013-787insC;NM_001042723.1:c.11998-788_11998-787insC 289387914 202115131 GMI_AK_INDEL_1065371 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39036321G>A;NG_008866.1:g.116982G>A;NM_000540.2:c.12013-764G>A;NM_001042723.1:c.11998-764G>A 228135931 116563238 pilot_1_YRI_9945614_chr19_43728161 4.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39036330T>C;NG_008866.1:g.116991T>C;NM_000540.2:c.12013-755T>C;NM_001042723.1:c.11998-755T>C 465587011 191057491 20101123_snps_11754241_chr19_39036330 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39036345A>G;NG_008866.1:g.117006A>G;NM_000540.2:c.12013-740A>G;NM_001042723.1:c.11998-740A>G 243881124 117071587 pilot_1_CHB+JPT_5766201_chr19_43728185 3.39e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39036345A>G;NG_008866.1:g.117006A>G;NM_000540.2:c.12013-740A>G;NM_001042723.1:c.11998-740A>G 283206161 117071587 GMI_AK_SNP_7526582 3.39e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39036390G>A;NG_008866.1:g.117051G>A;NM_000540.2:c.12013-695G>A;NM_001042723.1:c.11998-695G>A 283206162 202165512 GMI_AK_SNP_7526583 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39036392A>T;NG_008866.1:g.117053A>T;NM_000540.2:c.12013-693A>T;NM_001042723.1:c.11998-693A>T 283206163 200188224 GMI_AK_SNP_7526584 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39036392delA;NG_008866.1:g.117053delA;NM_000540.2:c.12013-693delA;NM_001042723.1:c.11998-693delA 289387915 200332975 GMI_AK_INDEL_1065372 3.39e-02 2010.12.30 2011.12.30 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036392delA;NG_008866.1:g.117053delA;NM_000540.2:c.12013-693delA;NM_001042723.1:c.11998-693delA 499576434 200332975 20110316_indels_chr19_39036391_39036391 3.39e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39036393G>T;NG_008866.1:g.117054G>T;NM_000540.2:c.12013-692G>T;NM_001042723.1:c.11998-692G>T 283206164 201443213 GMI_AK_SNP_7526585 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39036402G>A;NG_008866.1:g.117063G>A;NM_000540.2:c.12013-683G>A;NM_001042723.1:c.11998-683G>A 283206165 146550838 GMI_AK_SNP_7526586 2.79e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036402G>A;NG_008866.1:g.117063G>A;NM_000540.2:c.12013-683G>A;NM_001042723.1:c.11998-683G>A 340454801 146550838 20100804_snps_12098342_chr19_39036402 2.79e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036416A>C;NG_008866.1:g.117077A>C;NM_000540.2:c.12013-669A>C;NM_001042723.1:c.11998-669A>C 228135932 116072693 pilot_1_YRI_9945615_chr19_43728256 2.56e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39036519C>A;NG_008866.1:g.117180C>A;NM_000540.2:c.12013-566C>A;NM_001042723.1:c.11998-566C>A 340454802 140008110 20100804_snps_12098343_chr19_39036519 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 24195835 17722095 afd1611049 7.74e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 208446313 17722095 BCM_CMT_1011-3106241 7.74e-02 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 228135933 17722095 pilot_1_YRI_9945616_chr19_43728409 7.74e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 237674326 17722095 pilot_1_CEU_7278955_chr19_43728409 7.74e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 243881125 17722095 pilot_1_CHB+JPT_5766202_chr19_43728409 7.74e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 283206166 17722095 GMI_AK_SNP_7526587 7.74e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 483826063 17722095 HumanOmni2.5-4v1_B_SNP19-43728409-0_B_F_1622885663 7.74e-02 2012.02.03 2012.02.03 2004.09.20 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39036569T>C;NG_008866.1:g.117230T>C;NM_000540.2:c.12013-516T>C;NM_001042723.1:c.11998-516T>C 484356430 17722095 HumanOmni2.5-4v1_D_kgp9888477-0_B_F_1816536589 7.74e-02 2012.02.03 2012.02.03 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036582G>A;NG_008866.1:g.117243G>A;NM_000540.2:c.12013-503G>A;NM_001042723.1:c.11998-503G>A 243881126 74892946 pilot_1_CHB+JPT_5766203_chr19_43728422 3.39e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39036582G>A;NG_008866.1:g.117243G>A;NM_000540.2:c.12013-503G>A;NM_001042723.1:c.11998-503G>A 283206167 74892946 GMI_AK_SNP_7526588 3.39e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036605G>A;NG_008866.1:g.117266G>A;NM_000540.2:c.12013-480G>A;NM_001042723.1:c.11998-480G>A 465587012 183642150 20101123_snps_11754242_chr19_39036605 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PERLEGEN 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 24195836 17722101 afd1611050 7.65e-02 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 208436640 17722101 BCM_CMT_1011-3103063 7.65e-02 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 210946321 17722101 CEU.trio.3.2010_162546_chr19_43728494 7.65e-02 2010.03.29 2010.03.29 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 228135934 17722101 pilot_1_YRI_9945617_chr19_43728494 7.65e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 237674327 17722101 pilot_1_CEU_7278956_chr19_43728494 7.65e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 243881127 17722101 pilot_1_CHB+JPT_5766204_chr19_43728494 7.65e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39036654A>G;NG_008866.1:g.117315A>G;NM_000540.2:c.12013-431A>G;NM_001042723.1:c.11998-431A>G 283206168 17722101 GMI_AK_SNP_7526589 7.65e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39036670C>T;NG_008866.1:g.117331C>T;NM_000540.2:c.12013-415C>T;NM_001042723.1:c.11998-415C>T 228135935 115955446 pilot_1_YRI_9945618_chr19_43728510 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39036817C>T;NG_008866.1:g.117478C>T;NM_000540.2:c.12013-268C>T;NM_001042723.1:c.11998-268C>T 228135936 75811076 pilot_1_YRI_9945619_chr19_43728657 5.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39036914C>A;NG_008866.1:g.117575C>A;NM_000540.2:c.12013-171C>A;NM_001042723.1:c.11998-171C>A 340454803 149798609 20100804_snps_12098344_chr19_39036914 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39036953A>T;NG_008866.1:g.117614A>T;NM_000540.2:c.12013-132A>T;NM_001042723.1:c.11998-132A>T 340454804 145757821 20100804_snps_12098345_chr19_39036953 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.39037135C>T;NG_008866.1:g.117796C>T;NM_000540.2:c.12063C>T;NM_001042723.1:c.12048C>T;NP_000531.2:p.Asp4021=;NP_001036188.1:p.Asp4016= 342496655 140836772 ESP2500-chr19-39037135 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA-UK 6261 NC_000019.9:g.39037177A>G;NG_008866.1:g.117838A>G;NM_000540.2:c.12094+11A>G;NM_001042723.1:c.12079+11A>G 117702706 73933018 NA18507_000043942_NCBI36.1_chr19_43729017 3.57e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39037177A>G;NG_008866.1:g.117838A>G;NM_000540.2:c.12094+11A>G;NM_001042723.1:c.12079+11A>G 203751067 73933018 BUSHMAN-chr19-43729016 3.57e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037177A>G;NG_008866.1:g.117838A>G;NM_000540.2:c.12094+11A>G;NM_001042723.1:c.12079+11A>G 211962661 73933018 YRI.trio.3.2010_1440267_chr19_43729017 3.57e-02 2010.03.31 2010.03.31 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037177A>G;NG_008866.1:g.117838A>G;NM_000540.2:c.12094+11A>G;NM_001042723.1:c.12079+11A>G 228135937 73933018 pilot_1_YRI_9945620_chr19_43729017 3.57e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037177A>G;NG_008866.1:g.117838A>G;NM_000540.2:c.12094+11A>G;NM_001042723.1:c.12079+11A>G 491158134 73933018 20110521_exome_665932_chr19_39037177 3.57e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037261C>G;NG_008866.1:g.117922C>G;NM_000540.2:c.12094+95C>G;NM_001042723.1:c.12079+95C>G 243881128 117551910 pilot_1_CHB+JPT_5766205_chr19_43729101 3.25e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39037261C>G;NG_008866.1:g.117922C>G;NM_000540.2:c.12094+95C>G;NM_001042723.1:c.12079+95C>G 283206169 117551910 GMI_AK_SNP_7526590 3.25e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037276G>A;NG_008866.1:g.117937G>A;NM_000540.2:c.12094+110G>A;NM_001042723.1:c.12079+110G>A 211962663 115019209 YRI.trio.3.2010_1440268_chr19_43729116 2.98e-02 2010.03.31 2010.03.31 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39037276G>A;NG_008866.1:g.117937G>A;NM_000540.2:c.12094+110G>A;NM_001042723.1:c.12079+110G>A 228135938 115019209 pilot_1_YRI_9945621_chr19_43729116 2.98e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39037289G>T;NG_008866.1:g.117950G>T;NM_000540.2:c.12094+123G>T;NM_001042723.1:c.12079+123G>T 465587013 187968618 20101123_snps_11754243_chr19_39037289 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39037302G>A;NG_008866.1:g.117963G>A;NM_000540.2:c.12094+136G>A;NM_001042723.1:c.12079+136G>A 340454805 148889911 20100804_snps_12098346_chr19_39037302 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39037353A>T;NG_008866.1:g.118014A>T;NM_000540.2:c.12094+187A>T;NM_001042723.1:c.12079+187A>T 283206170 143540270 GMI_AK_SNP_7526591 3.39e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037353A>T;NG_008866.1:g.118014A>T;NM_000540.2:c.12094+187A>T;NM_001042723.1:c.12079+187A>T 340454806 143540270 20100804_snps_12098347_chr19_39037353 3.39e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39037358G>C;NG_008866.1:g.118019G>C;NM_000540.2:c.12094+192G>C;NM_001042723.1:c.12079+192G>C 203751068 111305274 BUSHMAN-chr19-43729197 1.35e-01 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39037358G>C;NG_008866.1:g.118019G>C;NM_000540.2:c.12094+192G>C;NM_001042723.1:c.12079+192G>C 237674329 111305274 pilot_1_CEU_7278958_chr19_43729198 1.35e-01 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 BL 6261 NC_000019.9:g.39037358G>C;NG_008866.1:g.118019G>C;NM_000540.2:c.12094+192G>C;NM_001042723.1:c.12079+192G>C 255668984 111305274 SNP49743_19_43729198 1.35e-01 2010.08.20 2010.08.20 2010.07.04 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037362T>C;NG_008866.1:g.118023T>C;NM_000540.2:c.12094+196T>C;NM_001042723.1:c.12079+196T>C 137670511 79033990 ENSSNP11444375 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037363G>C;NG_008866.1:g.118024G>C;NM_000540.2:c.12094+197G>C;NM_001042723.1:c.12079+197G>C 137670513 74833634 ENSSNP11444376 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037364G>A;NG_008866.1:g.118025G>A;NM_000540.2:c.12094+198G>A;NM_001042723.1:c.12079+198G>A 137670517 75640508 ENSSNP11444377 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037367A>G;NG_008866.1:g.118028A>G;NM_000540.2:c.12094+201A>G;NM_001042723.1:c.12079+201A>G 137670519 75351928 ENSSNP11444378 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037372A>T;NG_008866.1:g.118033A>T;NM_000540.2:c.12094+206A>T;NM_001042723.1:c.12079+206A>T 137670522 78161311 ENSSNP11444379 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037374C>T;NG_008866.1:g.118035C>T;NM_000540.2:c.12094+208C>T;NM_001042723.1:c.12079+208C>T 137670526 76668531 ENSSNP11444380 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037378A>G;NG_008866.1:g.118039A>G;NM_000540.2:c.12094+212A>G;NM_001042723.1:c.12079+212A>G 137670529 80000197 ENSSNP11444381 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037379G>C;NG_008866.1:g.118040G>C;NM_000540.2:c.12094+213G>C;NM_001042723.1:c.12079+213G>C 137670531 75490873 ENSSNP11444382 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037380T>C;NG_008866.1:g.118041T>C;NM_000540.2:c.12094+214T>C;NM_001042723.1:c.12079+214T>C 137670535 77013744 ENSSNP11444383 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037384G>C;NG_008866.1:g.118045G>C;NM_000540.2:c.12094+218G>C;NM_001042723.1:c.12079+218G>C 137670538 79410459 ENSSNP11444384 2009.05.16 2009.05.16 2009.12.01 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037400T>C;NG_008866.1:g.118061T>C;NM_000540.2:c.12094+234T>C;NM_001042723.1:c.12079+234T>C 96266970 73544633 1103691141910 2008.03.26 2008.03.26 2009.02.14 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39037400T>C;NG_008866.1:g.118061T>C;NM_000540.2:c.12094+234T>C;NM_001042723.1:c.12079+234T>C 137670540 73544633 ENSSNP11444385 2009.05.16 2009.05.16 2009.02.14 2012.11.28 137 BL 6261 NC_000019.9:g.39037400T>C;NG_008866.1:g.118061T>C;NM_000540.2:c.12094+234T>C;NM_001042723.1:c.12079+234T>C 255668989 73544633 SNP49744_19_43729240 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39037400T>C;NG_008866.1:g.118061T>C;NM_000540.2:c.12094+234T>C;NM_001042723.1:c.12079+234T>C 283206171 73544633 GMI_AK_SNP_7526592 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037403G>C;NG_008866.1:g.118064G>C;NM_000540.2:c.12094+237G>C;NM_001042723.1:c.12079+237G>C 96266971 74202573 1103691141911 2008.03.26 2008.03.26 2009.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39037403G>C;NG_008866.1:g.118064G>C;NM_000540.2:c.12094+237G>C;NM_001042723.1:c.12079+237G>C 137670544 74202573 ENSSNP11444386 2009.05.16 2009.05.16 2009.02.20 2012.11.28 137 BL 6261 NC_000019.9:g.39037403G>C;NG_008866.1:g.118064G>C;NM_000540.2:c.12094+237G>C;NM_001042723.1:c.12079+237G>C 255668995 74202573 SNP49745_19_43729243 2010.08.20 2010.08.20 2009.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39037403G>C;NG_008866.1:g.118064G>C;NM_000540.2:c.12094+237G>C;NM_001042723.1:c.12079+237G>C 283206172 74202573 GMI_AK_SNP_7526593 2010.12.16 2010.12.16 2009.02.20 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39037403G>C;NG_008866.1:g.118064G>C;NM_000540.2:c.12094+237G>C;NM_001042723.1:c.12079+237G>C 469257098 74202573 Chromosome19_43729243 2011.08.15 2011.08.15 2009.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037415G>A;NG_008866.1:g.118076G>A;NM_000540.2:c.12094+249G>A;NM_001042723.1:c.12079+249G>A 96266972 74193374 1103691141912 2008.03.26 2008.03.26 2009.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39037415G>A;NG_008866.1:g.118076G>A;NM_000540.2:c.12094+249G>A;NM_001042723.1:c.12079+249G>A 137670546 74193374 ENSSNP11444387 2009.05.16 2009.05.16 2009.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037417C>A;NG_008866.1:g.118078C>A;NM_000540.2:c.12094+251C>A;NM_001042723.1:c.12079+251C>A 96266973 74195536 1103691141913 2008.03.26 2008.03.26 2009.02.20 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037417C>A;NG_008866.1:g.118078C>A;NM_000540.2:c.12094+251C>A;NM_001042723.1:c.12079+251C>A 137670549 74195536 ENSSNP11444388 2009.05.16 2009.05.16 2009.02.20 2011.09.09 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39037417C>A;NG_008866.1:g.118078C>A;NM_000540.2:c.12094+251C>A;NM_001042723.1:c.12079+251C>A 208543849 74195536 BCM_CMT_1011-3139272 2010.03.19 2010.03.19 2009.02.20 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037420_39037421delTGinsCA;NG_008866.1:g.118081_118082delTGinsCA;NM_000540.2:c.12094+254_12094+255delTGinsCA;NM_001042723.1:c.12079+254_12079+255delTGinsCA 95217623 74209460 1103691141914 2008.03.21 2008.03.21 2009.02.21 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39037420T>C;NG_008866.1:g.118081T>C;NM_000540.2:c.12094+254T>C;NM_001042723.1:c.12079+254T>C 137670552 80092967 ENSSNP11444389 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39037421G>A;NG_008866.1:g.118082G>A;NM_000540.2:c.12094+255G>A;NM_001042723.1:c.12079+255G>A 137670556 77646167 ENSSNP11444390 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39037429T>A;NG_008866.1:g.118090T>A;NM_000540.2:c.12094+263T>A;NM_001042723.1:c.12079+263T>A 14711509 10415090 chr19.NT_011109.15_11305647 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39037429T>A;NG_008866.1:g.118090T>A;NM_000540.2:c.12094+263T>A;NM_001042723.1:c.12079+263T>A 21509767 10415090 WGSA-200403-chr19.chr19.NT_011109.15_11305647 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.39037429T>A;NG_008866.1:g.118090T>A;NM_000540.2:c.12094+263T>A;NM_001042723.1:c.12079+263T>A 255668998 10415090 SNP49746_19_43729269 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39037429T>A;NG_008866.1:g.118090T>A;NM_000540.2:c.12094+263T>A;NM_001042723.1:c.12079+263T>A 283206173 10415090 GMI_AK_SNP_7526594 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39037448C>T;NG_008866.1:g.118109C>T;NM_000540.2:c.12094+282C>T;NM_001042723.1:c.12079+282C>T 137670559 78329177 ENSSNP11444391 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037449_39037450delTAinsCG;NG_008866.1:g.118110_118111delTAinsCG;NM_000540.2:c.12094+283_12094+284delTAinsCG;NM_001042723.1:c.12079+283_12079+284delTAinsCG 95217624 74201567 1103691141915 2008.03.21 2008.03.21 2009.02.20 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037452T>C;NG_008866.1:g.118113T>C;NM_000540.2:c.12094+286T>C;NM_001042723.1:c.12079+286T>C 96266974 74195326 1103691141916 2008.03.26 2008.03.26 2009.02.20 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037458G>A;NG_008866.1:g.118119G>A;NM_000540.2:c.12094+292G>A;NM_001042723.1:c.12079+292G>A 96266975 74210672 1103691141917 2008.03.26 2008.03.26 2009.02.21 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037460_39037461delTGinsCA;NG_008866.1:g.118121_118122delTGinsCA;NM_000540.2:c.12094+294_12094+295delTGinsCA;NM_001042723.1:c.12079+294_12079+295delTGinsCA 95217625 74195228 1103691141918 2008.03.21 2008.03.21 2009.02.20 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037472_39037473delGAinsAT;NG_008866.1:g.118133_118134delGAinsAT;NM_000540.2:c.12094+306_12094+307delGAinsAT;NM_001042723.1:c.12079+306_12079+307delGAinsAT 95217626 74201931 1103691141919 2008.03.21 2008.03.21 2009.02.20 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037475C>T;NG_008866.1:g.118136C>T;NM_000540.2:c.12094+309C>T;NM_001042723.1:c.12079+309C>T 96266976 74188089 1103691141920 2008.03.26 2008.03.26 2009.02.20 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39037485G>A;NG_008866.1:g.118146G>A;NM_000540.2:c.12094+319G>A;NM_001042723.1:c.12079+319G>A 96266977 74189579 1103691141921 2008.03.26 2008.03.26 2009.02.20 2011.07.08 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39037549A>G;NG_008866.1:g.118210A>G;NM_000540.2:c.12094+383A>G;NM_001042723.1:c.12079+383A>G 168183998 112534597 NA07022_36_chr19_43729389 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39037553C>T;NG_008866.1:g.118214C>T;NM_000540.2:c.12094+387C>T;NM_001042723.1:c.12079+387C>T 168184010 113001910 NA07022_36_chr19_43729393 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39037566T>C;NG_008866.1:g.118227T>C;NM_000540.2:c.12094+400T>C;NM_001042723.1:c.12079+400T>C 168184023 112074751 NA07022_36_chr19_43729406 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 ABI 6261 NC_000019.9:g.39037676delT;NG_008866.1:g.118337delT;NM_000540.2:c.12094+510delT;NM_001042723.1:c.12079+510delT 41034094 34666293 hCV32823636 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39037676delT;NG_008866.1:g.118337delT;NM_000540.2:c.12094+510delT;NM_001042723.1:c.12079+510delT 193510363 34666293 BUSHMAN-chr19-43729515-43729516 2010.02.16 2010.02.16 2006.03.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39037676delT;NG_008866.1:g.118337delT;NM_000540.2:c.12094+510delT;NM_001042723.1:c.12079+510delT 289387916 34666293 GMI_AK_INDEL_1065373 2010.12.30 2011.12.30 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037743G>A;NG_008866.1:g.118404G>A;NM_000540.2:c.12094+577G>A;NM_001042723.1:c.12079+577G>A 465587014 192634335 20101123_snps_11754244_chr19_39037743 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 MPI_MOLGEN 6261 NC_000019.9:g.39037781G>A;NG_008866.1:g.118442G>A;NM_000540.2:c.12094+615G>A;NM_001042723.1:c.12079+615G>A 469257099 181117819 Chromosome19_43729621 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 GMI 6261 NC_000019.9:g.39037786_39037787insGCA;NG_008866.1:g.118447_118448insGCA;NM_000540.2:c.12094+620_12094+621insGCA;NM_001042723.1:c.12079+620_12079+621insGCA 289387917 202133194 GMI_AK_INDEL_1065374 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39037805G>A;NG_008866.1:g.118466G>A;NM_000540.2:c.12094+639G>A;NM_001042723.1:c.12079+639G>A 237674331 117044521 pilot_1_CEU_7278960_chr19_43729645 1.15e-01 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BL 6261 NC_000019.9:g.39037865G>T;NG_008866.1:g.118526G>T;NM_000540.2:c.12094+699G>T;NM_001042723.1:c.12079+699G>T 255669006 143980927 SNP49747_19_43729705 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39037866T>A;NC_000019.9:g.39037866T>G;NG_008866.1:g.118527T>A;NG_008866.1:g.118527T>G;NM_000540.2:c.12094+700T>A;NM_000540.2:c.12094+700T>G;NM_001042723.1:c.12079+700T>A;NM_001042723.1:c.12079+700T>G 12468562 8110564 chr19.NT_011109.15_11306084 2003.07.04 2003.10.10 2003.07.11 2012.05.16 137 ENSEMBL 6261 NC_000019.9:g.39037866T>A;NC_000019.9:g.39037866T>G;NG_008866.1:g.118527T>A;NG_008866.1:g.118527T>G;NM_000540.2:c.12094+700T>A;NM_000540.2:c.12094+700T>G;NM_001042723.1:c.12079+700T>A;NM_001042723.1:c.12079+700T>G 161878519 8110564 ENSSNP1527967 2009.09.26 2010.03.07 2003.07.11 2012.05.16 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39037885G>A;NG_008866.1:g.118546G>A;NM_000540.2:c.12094+719G>A;NM_001042723.1:c.12079+719G>A 208512410 113758486 BCM_CMT_1011-3128673 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39037885G>A;NG_008866.1:g.118546G>A;NM_000540.2:c.12094+719G>A;NM_001042723.1:c.12079+719G>A 283206174 113758486 GMI_AK_SNP_7526595 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39037912G>C;NG_008866.1:g.118573G>C;NM_000540.2:c.12094+746G>C;NM_001042723.1:c.12079+746G>C 208542544 113369282 BCM_CMT_1011-3138835 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39037924T>C;NG_008866.1:g.118585T>C;NM_000540.2:c.12094+758T>C;NM_001042723.1:c.12079+758T>C 208513922 113019054 BCM_CMT_1011-3129211 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39037934T>A;NG_008866.1:g.118595T>A;NM_000540.2:c.12094+768T>A;NM_001042723.1:c.12079+768T>A 208530884 112532538 BCM_CMT_1011-3134961 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 GMI 6261 NC_000019.9:g.39037943A>G;NG_008866.1:g.118604A>G;NM_000540.2:c.12094+777A>G;NM_001042723.1:c.12079+777A>G 283206175 186134177 GMI_AK_SNP_7526596 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39037943A>G;NG_008866.1:g.118604A>G;NM_000540.2:c.12094+777A>G;NM_001042723.1:c.12079+777A>G 469257100 186134177 Chromosome19_43729783 2011.08.15 2011.08.15 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39037982C>T;NG_008866.1:g.118643C>T;NM_000540.2:c.12094+816C>T;NM_001042723.1:c.12079+816C>T 340454809 146104029 20100804_snps_12098350_chr19_39037982 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 4171582 2960349 AC091486.2_74487 9.43e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 21536130 2960349 WGSA-200403-chr19.chr19.NT_011109.15_11306376 9.43e-02 2004.03.20 2008.03.31 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 44177500 2960349 hCV26218744 9.43e-02 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 65765766 2960349 Human1-rs2960349 9.43e-02 2006.10.10 2006.10.10 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 90970010 2960349 JWB-1168230 9.43e-02 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 96305724 2960349 1103691141922 9.43e-02 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 115120928 2960349 NA19240_2008_12_16_3257656_chr19_43729998 9.43e-02 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 117702709 2960349 NA18507_000043943_NCBI36.1_chr19_43729998 9.43e-02 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 136267450 2960349 ENSSNP1527968 9.43e-02 2009.05.15 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 137670561 2960349 ENSSNP7188257 9.43e-02 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 169708774 2960349 NA19240_36_chr19_43729998 9.43e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 203751069 2960349 BUSHMAN-chr19-43729997 9.43e-02 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 228135940 2960349 pilot_1_YRI_9945623_chr19_43729998 9.43e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 237674332 2960349 pilot_1_CEU_7278961_chr19_43729998 9.43e-02 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 292248556 2960349 SNP_1754914_chr19_43729998 9.43e-02 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 483743685 2960349 HumanOmni2.5-4v1_D_kgp6542256-0_B_F_1816281388 9.43e-02 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038158T>C;NG_008866.1:g.118819T>C;NM_000540.2:c.12095-715T>C;NM_001042723.1:c.12080-715T>C 483826065 2960349 HumanOmni2.5-4v1_B_SNP19-43729998-0_B_F_1644378174 9.43e-02 2012.02.03 2012.02.03 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 111366086 73032639 CEU.trio.12.15.2008_3616696_chr19_43730004 8.10e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 203751070 73032639 BUSHMAN-chr19-43730003 8.10e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 208435377 73032639 BCM_CMT_1011-3102648 8.10e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 228135941 73032639 pilot_1_YRI_9945624_chr19_43730004 8.10e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 237674333 73032639 pilot_1_CEU_7278962_chr19_43730004 8.10e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 243881130 73032639 pilot_1_CHB+JPT_5766207_chr19_43730004 8.10e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39038164T>C;NG_008866.1:g.118825T>C;NM_000540.2:c.12095-709T>C;NM_001042723.1:c.12080-709T>C 283206176 73032639 GMI_AK_SNP_7526597 8.10e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038166G>A;NG_008866.1:g.118827G>A;NM_000540.2:c.12095-707G>A;NM_001042723.1:c.12080-707G>A 465587015 184459428 20101123_snps_11754245_chr19_39038166 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39038226A>G;NG_008866.1:g.118887A>G;NM_000540.2:c.12095-647A>G;NM_001042723.1:c.12080-647A>G 465587016 187679336 20101123_snps_11754246_chr19_39038226 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 4171583 2960350 AC091486.2_74583 1.32e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 21530047 2960350 WGSA-200403-chr19.chr19.NT_011109.15_11306472 1.32e-01 2004.03.20 2008.03.31 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 41003275 2960350 hCV26218745 1.32e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 65765767 2960350 Human1-rs2960350 1.32e-01 2006.10.10 2006.10.10 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 74980231 2960350 ILMN_Human_1M_rs2960350 1.32e-01 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 90970013 2960350 JWB-1168231 1.32e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 96305725 2960350 1103691141923 1.32e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 115120932 2960350 NA19240_2008_12_16_3257657_chr19_43730094 1.32e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 117702711 2960350 NA18507_000043944_NCBI36.1_chr19_43730094 1.32e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 119451379 2960350 KHS1613626 1.32e-01 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 137670564 2960350 ENSSNP6877250 1.32e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 143534596 2960350 ENSSNP9759551 1.32e-01 2009.06.06 2009.10.17 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 160602210 2960350 HumanOmni1-Quad_v1-0_B_rs2960350-128_T_F_1513936441 1.32e-01 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 169708801 2960350 NA19240_36_chr19_43730094 1.32e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 173541117 2960350 Human1M-Duov3_B_rs2960350-128_T_F_1513936441 1.32e-01 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 203751071 2960350 BUSHMAN-chr19-43730093 1.32e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 228135942 2960350 pilot_1_YRI_9945625_chr19_43730094 1.32e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 237674334 2960350 pilot_1_CEU_7278963_chr19_43730094 1.32e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 243881131 2960350 pilot_1_CHB+JPT_5766208_chr19_43730094 1.32e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 283206177 2960350 GMI_AK_SNP_7526598 1.32e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 292248557 2960350 SNP_1754915_chr19_43730094 1.32e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 480727403 2960350 HumanOmni2.5-4v1_B_rs2960350-128_T_F_1772062926 1.32e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 480743138 2960350 HumanOmniExpress-12v1_C_rs2960350-131_T_F_1857384117 1.32e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 481623319 2960350 HumanOmni1-Quad_v1-0_C_rs2960350-131_T_F_1865671144 1.32e-01 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39038254A>G;NG_008866.1:g.118915A>G;NM_000540.2:c.12095-619A>G;NM_001042723.1:c.12080-619A>G 485158443 2960350 HumanOmni2.5-4v1_D_rs2960350-131_T_F_1857384117 1.32e-01 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038278G>C;NG_008866.1:g.118939G>C;NM_000540.2:c.12095-595G>C;NM_001042723.1:c.12080-595G>C 340454810 138663817 20100804_snps_12098351_chr19_39038278 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39038290A>G;NG_008866.1:g.118951A>G;NM_000540.2:c.12095-583A>G;NM_001042723.1:c.12080-583A>G 203751072 112033600 BUSHMAN-chr19-43730129 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 ABI 6261 NC_000019.9:g.39038359delT;NG_008866.1:g.119020delT;NM_000540.2:c.12095-514delT;NM_001042723.1:c.12080-514delT 41029772 34547615 hCV32823637 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39038359delT;NG_008866.1:g.119020delT;NM_000540.2:c.12095-514delT;NM_001042723.1:c.12080-514delT 96281049 34547615 1103691141924 2008.03.26 2008.03.26 2006.03.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39038359delT;NG_008866.1:g.119020delT;NM_000540.2:c.12095-514delT;NM_001042723.1:c.12080-514delT 193510365 34547615 BUSHMAN-chr19-43730198-43730199 2010.02.16 2010.02.16 2006.03.14 2011.09.09 137 PJP 6261 NC_000019.9:g.39038359delT;NG_008866.1:g.119020delT;NM_000540.2:c.12095-514delT;NM_001042723.1:c.12080-514delT 294962547 34547615 DIP_400251_chr19_43730199 2011.01.22 2011.01.22 2006.03.14 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39038372T>G;NG_008866.1:g.119033T>G;NM_000540.2:c.12095-501T>G;NM_001042723.1:c.12080-501T>G 137670567 74373877 ENSSNP11444394 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39038399A>C;NG_008866.1:g.119060A>C;NM_000540.2:c.12095-474A>C;NM_001042723.1:c.12080-474A>C 465587017 192685259 20101123_snps_11754247_chr19_39038399 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39038406_39038407insG;NG_008866.1:g.119067_119068insG;NM_000540.2:c.12095-467_12095-466insG;NM_001042723.1:c.12080-467_12080-466insG 289387918 200460423 GMI_AK_INDEL_1065375 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39038412G>A;NG_008866.1:g.119073G>A;NM_000540.2:c.12095-461G>A;NM_001042723.1:c.12080-461G>A 283206178 200983513 GMI_AK_SNP_7526599 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39038419G>A;NG_008866.1:g.119080G>A;NM_000540.2:c.12095-454G>A;NM_001042723.1:c.12080-454G>A 283206179 201847254 GMI_AK_SNP_7526600 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39038427C>T;NG_008866.1:g.119088C>T;NM_000540.2:c.12095-446C>T;NM_001042723.1:c.12080-446C>T 465587018 184927152 20101123_snps_11754248_chr19_39038427 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 4171584 2960351 AC091486.2_74819 2.06e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 40982322 2960351 hCV1722537 2.06e-01 2005.07.17 2006.11.03 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 81563296 2960351 Cor19240_SNV_20070510.chr19_43730331 2.06e-01 2007.11.30 2007.11.30 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 90970015 2960351 JWB-1168232 2.06e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 96305726 2960351 1103691141925 2.06e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 115120944 2960351 NA19240_2008_12_16_3257658_chr19_43730331 2.06e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 132762482 2960351 ENSSNP1527969 2.06e-01 2009.05.12 2009.10.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 137670571 2960351 ENSSNP7005676 2.06e-01 2009.05.16 2009.05.16 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 169708814 2960351 NA19240_36_chr19_43730331 2.06e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 203751073 2960351 BUSHMAN-chr19-43730330 2.06e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 208524582 2960351 BCM_CMT_1011-3132871 2.06e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 237674335 2960351 pilot_1_CEU_7278964_chr19_43730331 2.06e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 243881132 2960351 pilot_1_CHB+JPT_5766209_chr19_43730331 2.06e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 283206180 2960351 GMI_AK_SNP_7526601 2.06e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39038491A>T;NG_008866.1:g.119152A>T;NM_000540.2:c.12095-382A>T;NM_001042723.1:c.12080-382A>T 292248558 2960351 SNP_1754916_chr19_43730331 2.06e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39038534A>G;NG_008866.1:g.119195A>G;NM_000540.2:c.12095-339A>G;NM_001042723.1:c.12080-339A>G 283206181 201324861 GMI_AK_SNP_7526602 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39038541C>A;NG_008866.1:g.119202C>A;NM_000540.2:c.12095-332C>A;NM_001042723.1:c.12080-332C>A 465587019 188991380 20101123_snps_11754249_chr19_39038541 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39038565C>G;NG_008866.1:g.119226C>G;NM_000540.2:c.12095-308C>G;NM_001042723.1:c.12080-308C>G 283206182 141129320 GMI_AK_SNP_7526603 2.34e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038565C>G;NG_008866.1:g.119226C>G;NM_000540.2:c.12095-308C>G;NM_001042723.1:c.12080-308C>G 340454811 141129320 20100804_snps_12098352_chr19_39038565 2.34e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39038607T>C;NG_008866.1:g.119268T>C;NM_000540.2:c.12095-266T>C;NM_001042723.1:c.12080-266T>C 208545153 112412968 BCM_CMT_1011-3139704 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 GMI 6261 NC_000019.9:g.39038631G>A;NG_008866.1:g.119292G>A;NM_000540.2:c.12095-242G>A;NM_001042723.1:c.12080-242G>A 283206183 200405191 GMI_AK_SNP_7526604 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39038633G>T;NG_008866.1:g.119294G>T;NM_000540.2:c.12095-240G>T;NM_001042723.1:c.12080-240G>T 283206184 201104189 GMI_AK_SNP_7526605 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BUSHMAN 6261 NC_000019.9:g.39038712G>C;NG_008866.1:g.119373G>C;NM_000540.2:c.12095-161G>C;NM_001042723.1:c.12080-161G>C 203751074 111639747 BUSHMAN-chr19-43730551 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39038715G>A;NG_008866.1:g.119376G>A;NM_000540.2:c.12095-158G>A;NM_001042723.1:c.12080-158G>A 465587020 180992075 20101123_snps_11754250_chr19_39038715 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 4151669 2945046 AC067969.1_29049 9.25e-02 germline untested 2001.10.15 2003.10.10 2001.11.05 2012.09.29 137 SSAHASNP 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 21536671 2945046 WGSA-200403-chr19.chr19.NT_011109.15_11306962 9.25e-02 germline untested 2004.03.20 2004.03.20 2001.11.05 2012.09.29 137 ABI 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 44180944 2945046 hCV1722538 9.25e-02 unknown untested 2005.07.18 2006.11.03 2001.11.05 2012.09.29 137 BCMHGSC_JDW 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 90970017 2945046 JWB-1168233 9.25e-02 germline untested 2008.03.01 2008.03.01 2001.11.05 2012.09.29 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 96305727 2945046 1103691141927 9.25e-02 unknown untested 2008.03.26 2008.03.26 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 115120948 2945046 NA19240_2008_12_16_3257659_chr19_43730584 9.25e-02 germline untested 2008.12.19 2008.12.19 2001.11.05 2012.09.29 137 ENSEMBL 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 132762486 2945046 ENSSNP1527970 9.25e-02 unknown untested 2009.05.12 2009.10.15 2001.11.05 2012.09.29 137 ENSEMBL 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 137670574 2945046 ENSSNP11444396 9.25e-02 unknown untested 2009.05.16 2009.05.16 2001.11.05 2012.09.29 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 169708831 2945046 NA19240_36_chr19_43730584 9.25e-02 unknown untested 2009.10.01 2009.10.01 2001.11.05 2012.09.29 137 BUSHMAN 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 203751075 2945046 BUSHMAN-chr19-43730583 9.25e-02 unknown untested 2010.03.09 2010.03.09 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 228135943 2945046 pilot_1_YRI_9945626_chr19_43730584 9.25e-02 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 237674336 2945046 pilot_1_CEU_7278965_chr19_43730584 9.25e-02 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.12095-129G>C NC_000019.9:g.39038744G>C;NG_008866.1:g.119405G>C;NM_000540.2:c.12095-129G>C;NM_001042723.1:c.12080-129G>C 475871672 2945046 RYR1_00034 9.25e-02 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39038846G>T;NG_008866.1:g.119507G>T;NM_000540.2:c.12095-27G>T;NM_001042723.1:c.12080-27G>T 465587021 184576613 20101123_snps_11754251_chr19_39038846 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038846G>T;NG_008866.1:g.119507G>T;NM_000540.2:c.12095-27G>T;NM_001042723.1:c.12080-27G>T 491158135 184576613 20110521_exome_665933_chr19_39038846 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39038877C>T;NG_008866.1:g.119538C>T;NM_000540.2:c.12099C>T;NM_001042723.1:c.12084C>T;NP_000531.2:p.Asn4033=;NP_001036188.1:p.Asn4028= 491766281 201642412 SNV-chr19-43730717 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038886C>T;NG_008866.1:g.119547C>T;NM_000540.2:c.12108C>T;NM_001042723.1:c.12093C>T;NP_000531.2:p.Asn4036=;NP_001036188.1:p.Asn4031= 465587022 189263702 20101123_snps_11754252_chr19_39038886 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038886C>T;NG_008866.1:g.119547C>T;NM_000540.2:c.12108C>T;NM_001042723.1:c.12093C>T;NP_000531.2:p.Asn4036=;NP_001036188.1:p.Asn4031= 491158136 189263702 20110521_exome_665934_chr19_39038886 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39038899C>T;NG_008866.1:g.119560C>T;NM_000540.2:c.12121C>T;NM_001042723.1:c.12106C>T;NP_000531.2:p.Arg4041Trp;NP_001036188.1:p.Arg4036Trp 342496656 144685735 ESP2500-chr19-39038899 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12121C>T NC_000019.9:g.39038899C>T;NG_008866.1:g.119560C>T;NM_000540.2:c.12121C>T;NM_001042723.1:c.12106C>T;NP_000531.2:p.Arg4041Trp;NP_001036188.1:p.Arg4036Trp 475871677 144685735 RYR1_00272 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12149C>A NC_000019.9:g.39038927C>A;NG_008866.1:g.119588C>A;NM_000540.2:c.12149C>A;NM_001042723.1:c.12134C>A;NP_000531.2:p.Ser4050Tyr;NP_001036188.1:p.Ser4045Tyr 475871678 193922844 RYR1_00105 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39038965A>G;NG_008866.1:g.119626A>G;NM_000540.2:c.12187A>G;NM_001042723.1:c.12172A>G;NP_000531.2:p.Met4063Val;NP_001036188.1:p.Met4058Val 465587023 181968345 20101123_snps_11754253_chr19_39038965 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038965A>G;NG_008866.1:g.119626A>G;NM_000540.2:c.12187A>G;NM_001042723.1:c.12172A>G;NP_000531.2:p.Met4063Val;NP_001036188.1:p.Met4058Val 491158137 181968345 20110521_exome_665935_chr19_39038965 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39038965A>G;NG_008866.1:g.119626A>G;NM_000540.2:c.12187A>G;NM_001042723.1:c.12172A>G;NP_000531.2:p.Met4063Val;NP_001036188.1:p.Met4058Val 491546510 181968345 nonsyn_262736_chr_19_39038965 9.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038981A>G;NG_008866.1:g.119642A>G;NM_000540.2:c.12203A>G;NM_001042723.1:c.12188A>G;NP_000531.2:p.Lys4068Arg;NP_001036188.1:p.Lys4063Arg 228135944 114009747 pilot_1_YRI_9945627_chr19_43730821 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39038981A>G;NG_008866.1:g.119642A>G;NM_000540.2:c.12203A>G;NM_001042723.1:c.12188A>G;NP_000531.2:p.Lys4068Arg;NP_001036188.1:p.Lys4063Arg 342496657 114009747 ESP2500-chr19-39038981 5.00e-04 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39038981A>G;NG_008866.1:g.119642A>G;NM_000540.2:c.12203A>G;NM_001042723.1:c.12188A>G;NP_000531.2:p.Lys4068Arg;NP_001036188.1:p.Lys4063Arg 491158138 114009747 20110521_exome_665936_chr19_39038981 5.00e-04 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39038981A>G;NG_008866.1:g.119642A>G;NM_000540.2:c.12203A>G;NM_001042723.1:c.12188A>G;NP_000531.2:p.Lys4068Arg;NP_001036188.1:p.Lys4063Arg 491546511 114009747 nonsyn_262737_chr_19_39038981 5.00e-04 2012.03.06 2012.03.06 2010.07.14 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12241A>T NC_000019.9:g.39039019A>T;NG_008866.1:g.119680A>T;NM_000540.2:c.12241A>T;NM_001042723.1:c.12226A>T;NP_000531.2:p.Thr4081Ser;NP_001036188.1:p.Thr4076Ser 475871679 193922845 RYR1_00128 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39039098G>A;NG_008866.1:g.119759G>A;NM_000540.2:c.12282+38G>A;NM_001042723.1:c.12267+38G>A 489164670 202155484 20110521_exome_255721_chr19_39039098 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39039152A>G;NG_008866.1:g.119813A>G;NM_000540.2:c.12282+92A>G;NM_001042723.1:c.12267+92A>G 228135945 77584892 pilot_1_YRI_9945628_chr19_43730992 3.85e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39039152A>G;NG_008866.1:g.119813A>G;NM_000540.2:c.12282+92A>G;NM_001042723.1:c.12267+92A>G 243881133 77584892 pilot_1_CHB+JPT_5766210_chr19_43730992 3.85e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39039152A>G;NG_008866.1:g.119813A>G;NM_000540.2:c.12282+92A>G;NM_001042723.1:c.12267+92A>G 283206185 77584892 GMI_AK_SNP_7526606 3.85e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ABI 6261 NC_000019.9:g.39039200_39039201insC;NG_008866.1:g.119861_119862insC;NM_000540.2:c.12282+140_12282+141insC;NM_001042723.1:c.12267+140_12267+141insC 41047475 36119141 hCV32823638 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39039239G>A;NG_008866.1:g.119900G>A;NM_000540.2:c.12282+179G>A;NM_001042723.1:c.12267+179G>A 465587024 185851201 20101123_snps_11754254_chr19_39039239 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39039302T>C;NG_008866.1:g.119963T>C;NM_000540.2:c.12282+242T>C;NM_001042723.1:c.12267+242T>C 465587025 192042925 20101123_snps_11754255_chr19_39039302 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39039320C>T;NG_008866.1:g.119981C>T;NM_000540.2:c.12282+260C>T;NM_001042723.1:c.12267+260C>T 465587026 181122082 20101123_snps_11754256_chr19_39039320 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39039771C>G;NG_008866.1:g.120432C>G;NM_000540.2:c.12282+711C>G;NM_001042723.1:c.12267+711C>G 228135946 115889101 pilot_1_YRI_9945629_chr19_43731611 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39039826T>C;NG_008866.1:g.120487T>C;NM_000540.2:c.12282+766T>C;NM_001042723.1:c.12267+766T>C 340454813 137981152 20100804_snps_12098354_chr19_39039826 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39039872T>G;NG_008866.1:g.120533T>G;NM_000540.2:c.12282+812T>G;NM_001042723.1:c.12267+812T>G 340454814 149411228 20100804_snps_12098355_chr19_39039872 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39039904A>G;NG_008866.1:g.120565A>G;NM_000540.2:c.12282+844A>G;NM_001042723.1:c.12267+844A>G 465587027 186556955 20101123_snps_11754257_chr19_39039904 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39040026G>T;NG_008866.1:g.120687G>T;NM_000540.2:c.12282+966G>T;NM_001042723.1:c.12267+966G>T 465587028 190661863 20101123_snps_11754258_chr19_39040026 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39040029C>T;NG_008866.1:g.120690C>T;NM_000540.2:c.12282+969C>T;NM_001042723.1:c.12267+969C>T 465587029 182900203 20101123_snps_11754259_chr19_39040029 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39040116C>T;NG_008866.1:g.120777C>T;NM_000540.2:c.12282+1056C>T;NM_001042723.1:c.12267+1056C>T 465587030 186913993 20101123_snps_11754260_chr19_39040116 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39040142C>A;NG_008866.1:g.120803C>A;NM_000540.2:c.12282+1082C>A;NM_001042723.1:c.12267+1082C>A 168184038 77021014 NA07022_36_chr19_43731982 4.58e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040142C>A;NG_008866.1:g.120803C>A;NM_000540.2:c.12282+1082C>A;NM_001042723.1:c.12267+1082C>A 237674339 77021014 pilot_1_CEU_7278968_chr19_43731982 4.58e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040142C>A;NG_008866.1:g.120803C>A;NM_000540.2:c.12282+1082C>A;NM_001042723.1:c.12267+1082C>A 479225588 77021014 HumanOmni2.5-4v1_D_kgp10197198-0_T_F_1816226221 4.58e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040142C>A;NG_008866.1:g.120803C>A;NM_000540.2:c.12282+1082C>A;NM_001042723.1:c.12267+1082C>A 483826067 77021014 HumanOmni2.5-4v1_B_SNP19-43731982-0_T_F_1622860073 4.58e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 10925778 7249859 chr19.NT_011109.15_11308402 2.85e-01 2003.06.30 2004.04.07 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 41047614 7249859 hCV1722539 2.85e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 66690534 7249859 HumanHap300v1.1_rs7249859 2.85e-01 2006.11.09 2006.11.09 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 67561798 7249859 HumanHap550v1.1_rs7249859 2.85e-01 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 67939518 7249859 HumanHap650Yv1.0_rs7249859 2.85e-01 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 69228180 7249859 PGP04572500 2.85e-01 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 70919242 7249859 HumanHap550v3.0__rs7249859 2.85e-01 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 71518685 7249859 HumanHap650Yv3.0_rs7249859 2.85e-01 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 75562942 7249859 ILMN_Human_1M_rs7249859 2.85e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 79251887 7249859 HumanHap300v2.0_rs7249859 2.85e-01 2007.11.18 2007.11.18 2003.07.11 2012.11.28 137 HGSV 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 84002901 7249859 Cor18555_SNV_20070510.chr19_43732024 2.85e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 84646188 7249859 KHS767911 2.85e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 96305728 7249859 1103691141928 2.85e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 111366096 7249859 CEU.trio.12.15.2008_3616697_chr19_43732024 2.85e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 115120958 7249859 NA19240_2008_12_16_3257660_chr19_43732024 2.85e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 122726104 7249859 HumanCNV370v1_C_rs7249859 2.85e-01 2009.04.15 2009.04.15 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 142879988 7249859 ENSSNP3887137 2.85e-01 2009.06.05 2009.10.19 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 154415825 7249859 Human610_Quadv1_B_rs7249859-128_T_F_1501846316 2.85e-01 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 159590919 7249859 Human660W-Quad_v1_A_rs7249859-128_T_F_1501846316 2.85e-01 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 168184048 7249859 NA07022_36_chr19_43732024 2.85e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 169708855 7249859 NA19240_36_chr19_43732024 2.85e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 172270136 7249859 HumanCNV370-Quadv3_C_rs7249859-128_T_F_1501846316 2.85e-01 2009.10.02 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 174309475 7249859 Human1M-Duov3_B_rs7249859-128_T_F_1501846316 2.85e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 203751076 7249859 BUSHMAN-chr19-43732023 2.85e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 208428400 7249859 BCM_CMT_1011-3100340 2.85e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 228135947 7249859 pilot_1_YRI_9945630_chr19_43732024 2.85e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 237674340 7249859 pilot_1_CEU_7278969_chr19_43732024 2.85e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 243881134 7249859 pilot_1_CHB+JPT_5766211_chr19_43732024 2.85e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 255669009 7249859 SNP49748_19_43732024 2.85e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 283206186 7249859 GMI_AK_SNP_7526607 2.85e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 292248559 7249859 SNP_1754917_chr19_43732024 2.85e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 483619021 7249859 HumanOmni2.5-4v1_D_kgp5862841-0_T_F_1816289614 2.85e-01 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39040184A>C;NG_008866.1:g.120845A>C;NM_000540.2:c.12282+1124A>C;NM_001042723.1:c.12267+1124A>C 483826069 7249859 HumanOmni2.5-4v1_B_SNP19-43732024-0_T_F_1622628490 2.85e-01 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39040339delT;NG_008866.1:g.121000delT;NM_000540.2:c.12282+1279delT;NM_001042723.1:c.12267+1279delT 95728349 71165559 1104685411623 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.39040339delT;NG_008866.1:g.121000delT;NM_000540.2:c.12282+1279delT;NM_001042723.1:c.12267+1279delT 294962548 71165559 DIP_400252_chr19_43732179 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.39040339delT;NG_008866.1:g.121000delT;NM_000540.2:c.12282+1279delT;NM_001042723.1:c.12267+1279delT 294962549 71165559 DIP_400253_chr19_43732202 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39040356T>G;NG_008866.1:g.121017T>G;NM_000540.2:c.12282+1296T>G;NM_001042723.1:c.12267+1296T>G 168184060 111870090 NA07022_36_chr19_43732196 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39040360_39040363delTTTG;NG_008866.1:g.121021_121024delTTTG;NM_000540.2:c.12282+1300_12282+1303delTTTG;NM_001042723.1:c.12267+1300_12267+1303delTTTG 103616567 79208887 JWB-4066192 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 PJP 6261 NC_000019.9:g.39040365G>A;NG_008866.1:g.121026G>A;NM_000540.2:c.12282+1305G>A;NM_001042723.1:c.12267+1305G>A 292248560 146808298 SNP_1754918_chr19_43732205 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39040413T>C;NG_008866.1:g.121074T>C;NM_000540.2:c.12282+1353T>C;NM_001042723.1:c.12267+1353T>C 465587031 191034803 20101123_snps_11754261_chr19_39040413 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 PJP 6261 NC_000019.9:g.39040517_39040518delGT;NG_008866.1:g.121178_121179delGT;NM_000540.2:c.12282+1457_12282+1458delGT;NM_001042723.1:c.12267+1457_12267+1458delGT 294962551 150566334 DIP_400255_chr19_43732405 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 HGSV 6261 NC_000019.9:g.39040519delG;NC_000019.9:g.39040519delGinsGTGT;NC_000019.9:g.39040519delGinsGTGTGT;NG_008866.1:g.121180delG;NG_008866.1:g.121180delGinsGTGT;NG_008866.1:g.121180delGinsGTGTGT;NM_000540.2:c.12282+1459delG;NM_000540.2:c.12282+1459delGinsGTGT;NM_000540.2:c.12282+1459delGinsGTGTGT;NM_001042723.1:c.12267+1459delG;NM_001042723.1:c.12267+1459delGinsGTGT;NM_001042723.1:c.12267+1459delGinsGTGTGT 81476257 57000380 Cor18555_DIV_20070510.chr19_43732400-43732407_1 2007.11.30 2007.11.30 2007.12.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.39040519delG;NC_000019.9:g.39040519delGinsGTGT;NC_000019.9:g.39040519delGinsGTGTGT;NG_008866.1:g.121180delG;NG_008866.1:g.121180delGinsGTGT;NG_008866.1:g.121180delGinsGTGTGT;NM_000540.2:c.12282+1459delG;NM_000540.2:c.12282+1459delGinsGTGT;NM_000540.2:c.12282+1459delGinsGTGTGT;NM_001042723.1:c.12267+1459delG;NM_001042723.1:c.12267+1459delGinsGTGT;NM_001042723.1:c.12267+1459delGinsGTGTGT 81805020 57000380 Cor18555_DIV_20070510.chr19_43732402-43732407_1 2007.12.01 2007.12.01 2007.12.14 2012.11.28 137 HGSV 6261 NC_000019.9:g.39040519delG;NC_000019.9:g.39040519delGinsGTGT;NC_000019.9:g.39040519delGinsGTGTGT;NG_008866.1:g.121180delG;NG_008866.1:g.121180delGinsGTGT;NG_008866.1:g.121180delGinsGTGTGT;NM_000540.2:c.12282+1459delG;NM_000540.2:c.12282+1459delGinsGTGT;NM_000540.2:c.12282+1459delGinsGTGTGT;NM_001042723.1:c.12267+1459delG;NM_001042723.1:c.12267+1459delGinsGTGT;NM_001042723.1:c.12267+1459delGinsGTGTGT 81949883 57000380 Cor18555_DIV_20070510.chr19_43732402-43732407_2 2007.12.01 2007.12.01 2007.12.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39040519delG;NC_000019.9:g.39040519delGinsGTGT;NC_000019.9:g.39040519delGinsGTGTGT;NG_008866.1:g.121180delG;NG_008866.1:g.121180delGinsGTGT;NG_008866.1:g.121180delGinsGTGTGT;NM_000540.2:c.12282+1459delG;NM_000540.2:c.12282+1459delGinsGTGT;NM_000540.2:c.12282+1459delGinsGTGTGT;NM_001042723.1:c.12267+1459delG;NM_001042723.1:c.12267+1459delGinsGTGT;NM_001042723.1:c.12267+1459delGinsGTGTGT 95728350 57000380 1104685411624 2008.03.23 2008.12.03 2007.12.14 2012.11.28 137 PJP 6261 NC_000019.9:g.39040519delG;NC_000019.9:g.39040519delGinsGTGT;NC_000019.9:g.39040519delGinsGTGTGT;NG_008866.1:g.121180delG;NG_008866.1:g.121180delGinsGTGT;NG_008866.1:g.121180delGinsGTGTGT;NM_000540.2:c.12282+1459delG;NM_000540.2:c.12282+1459delGinsGTGT;NM_000540.2:c.12282+1459delGinsGTGTGT;NM_001042723.1:c.12267+1459delG;NM_001042723.1:c.12267+1459delGinsGTGT;NM_001042723.1:c.12267+1459delGinsGTGTGT 294962550 57000380 DIP_400254_chr19_43732403 2011.01.22 2011.01.22 2007.12.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39040597T>C;NG_008866.1:g.121258T>C;NM_000540.2:c.12282+1537T>C;NM_001042723.1:c.12267+1537T>C 283206187 146359490 GMI_AK_SNP_7526608 3.70e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040597T>C;NG_008866.1:g.121258T>C;NM_000540.2:c.12282+1537T>C;NM_001042723.1:c.12267+1537T>C 340454815 146359490 20100804_snps_12098356_chr19_39040597 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040688G>A;NG_008866.1:g.121349G>A;NM_000540.2:c.12282+1628G>A;NM_001042723.1:c.12267+1628G>A 115120964 73550971 NA19240_2008_12_16_3257661_chr19_43732528 3.07e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39040688G>A;NG_008866.1:g.121349G>A;NM_000540.2:c.12282+1628G>A;NM_001042723.1:c.12267+1628G>A 169708873 73550971 NA19240_36_chr19_43732528 3.07e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39040688G>A;NG_008866.1:g.121349G>A;NM_000540.2:c.12282+1628G>A;NM_001042723.1:c.12267+1628G>A 228135948 73550971 pilot_1_YRI_9945631_chr19_43732528 3.07e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39040758C>T;NG_008866.1:g.121419C>T;NM_000540.2:c.12282+1698C>T;NM_001042723.1:c.12267+1698C>T 19404737 12461920 CSHL-HuDD-200402.chr19.NT_011109.15_11308976 2004.02.21 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39040816A>G;NG_008866.1:g.121477A>G;NM_000540.2:c.12282+1756A>G;NM_001042723.1:c.12267+1756A>G 465587032 183546908 20101123_snps_11754262_chr19_39040816 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39040854T>A;NG_008866.1:g.121515T>A;NM_000540.2:c.12282+1794T>A;NM_001042723.1:c.12267+1794T>A 3447676 2459632 AC067969.1_31159 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39041103T>C;NG_008866.1:g.121764T>C;NM_000540.2:c.12282+2043T>C;NM_001042723.1:c.12267+2043T>C 465587033 187389426 20101123_snps_11754263_chr19_39041103 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39041237A>T;NG_008866.1:g.121898A>T;NM_000540.2:c.12282+2177A>T;NM_001042723.1:c.12267+2177A>T 3447677 2459633 AC067969.1_31542 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39041238C>A;NG_008866.1:g.121899C>A;NM_000540.2:c.12282+2178C>A;NM_001042723.1:c.12267+2178C>A 3464009 2471412 AC091486.1_72597 2001.09.24 2003.10.10 2001.09.28 2011.07.08 137 GMI 6261 NC_000019.9:g.39041279G>C;NG_008866.1:g.121940G>C;NM_000540.2:c.12282+2219G>C;NM_001042723.1:c.12267+2219G>C 283206188 139659115 GMI_AK_SNP_7526609 2.34e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041279G>C;NG_008866.1:g.121940G>C;NM_000540.2:c.12282+2219G>C;NM_001042723.1:c.12267+2219G>C 340454816 139659115 20100804_snps_12098357_chr19_39041279 2.34e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041321C>T;NG_008866.1:g.121982C>T;NM_000540.2:c.12282+2261C>T;NM_001042723.1:c.12267+2261C>T 228135949 77800005 pilot_1_YRI_9945632_chr19_43733161 7.80e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39041321C>T;NG_008866.1:g.121982C>T;NM_000540.2:c.12282+2261C>T;NM_001042723.1:c.12267+2261C>T 482330805 77800005 HumanOmni2.5-4v1_D_kgp21412948-0_T_R_1844178188 7.80e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39041321C>T;NG_008866.1:g.121982C>T;NM_000540.2:c.12282+2261C>T;NM_001042723.1:c.12267+2261C>T 483826071 77800005 HumanOmni2.5-4v1_B_SNP19-43733161-0_T_R_1637740841 7.80e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 3447678 2459634 AC067969.1_31782 3.97e-01 2001.09.24 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 12466099 2459634 chr19.NT_011109.15_11309695 3.97e-01 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 21523057 2459634 WGSA-200403-chr19.chr19.NT_011109.15_11309695 3.97e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 41031381 2459634 hCV16240326 3.97e-01 2005.07.17 2005.07.17 2001.09.28 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 90970019 2459634 JWB-1168234 3.97e-01 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 96305729 2459634 1103691141931 3.97e-01 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 103437778 2459634 BGI_rs2459634 3.97e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 111366102 2459634 CEU.trio.12.15.2008_3616698_chr19_43733317 3.97e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 115120971 2459634 NA19240_2008_12_16_3257662_chr19_43733317 3.97e-01 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 117702713 2459634 NA18507_000043945_NCBI36.1_chr19_43733317 3.97e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 132762490 2459634 ENSSNP1527972 3.97e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 137670577 2459634 ENSSNP11444397 3.97e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 168184073 2459634 NA07022_36_chr19_43733317 3.97e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 169708901 2459634 NA19240_36_chr19_43733317 3.97e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 203751077 2459634 BUSHMAN-chr19-43733316 3.97e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 208368770 2459634 BCM_CMT_1011-3080583 3.97e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 228135950 2459634 pilot_1_YRI_9945633_chr19_43733317 3.97e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 237674342 2459634 pilot_1_CEU_7278971_chr19_43733317 3.97e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 243881135 2459634 pilot_1_CHB+JPT_5766212_chr19_43733317 3.97e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 255669014 2459634 SNP49749_19_43733317 3.97e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 283206189 2459634 GMI_AK_SNP_7526610 3.97e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39041477T>G;NG_008866.1:g.122138T>G;NM_000540.2:c.12282+2417T>G;NM_001042723.1:c.12267+2417T>G 292248561 2459634 SNP_1754919_chr19_43733317 3.97e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39041550C>T;NG_008866.1:g.122211C>T;NM_000540.2:c.12282+2490C>T;NM_001042723.1:c.12267+2490C>T 465587034 193159094 20101123_snps_11754264_chr19_39041550 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39041577T>C;NG_008866.1:g.122238T>C;NM_000540.2:c.12282+2517T>C;NM_001042723.1:c.12267+2517T>C 340454817 143080635 20100804_snps_12098358_chr19_39041577 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39041646T>A;NG_008866.1:g.122307T>A;NM_000540.2:c.12282+2586T>A;NM_001042723.1:c.12267+2586T>A 41013384 35221758 hCV32823641 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39041666_39041685del20;NG_008866.1:g.122327_122346del20;NM_000540.2:c.12282+2606_12282+2625del20;NM_001042723.1:c.12267+2606_12267+2625del20 95728351 71165560 1104685411625 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39041683T>G;NG_008866.1:g.122344T>G;NM_000540.2:c.12282+2623T>G;NM_001042723.1:c.12267+2623T>G 137670579 78169291 ENSSNP11444398 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.39041685_39041705del21;NG_008866.1:g.122346_122366del21;NM_000540.2:c.12282+2625_12282+2645del21;NM_001042723.1:c.12267+2625_12267+2645del21 103616569 79741192 JWB-4066193 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 HGSV 6261 NC_000019.9:g.39041707G>A;NG_008866.1:g.122368G>A;NM_000540.2:c.12282+2647G>A;NM_001042723.1:c.12267+2647G>A 85529975 59321455 Cor18517_SNV_20070510.chr19_43733547 2007.12.09 2007.12.09 2007.12.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39041969C>T;NG_008866.1:g.122630C>T;NM_000540.2:c.12282+2909C>T;NM_001042723.1:c.12267+2909C>T 340454819 148728668 20100804_snps_12098360_chr19_39041969 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39042032T>C;NG_008866.1:g.122693T>C;NM_000540.2:c.12282+2972T>C;NM_001042723.1:c.12267+2972T>C 237674343 75576762 pilot_1_CEU_7278972_chr19_43733872 2.47e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39042032T>C;NG_008866.1:g.122693T>C;NM_000540.2:c.12282+2972T>C;NM_001042723.1:c.12267+2972T>C 483602428 75576762 HumanOmni2.5-4v1_D_kgp5774662-0_T_R_1816246069 2.47e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39042032T>C;NG_008866.1:g.122693T>C;NM_000540.2:c.12282+2972T>C;NM_001042723.1:c.12267+2972T>C 483826072 75576762 HumanOmni2.5-4v1_B_SNP19-43733872-0_T_R_1628646873 2.47e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042063T>G;NG_008866.1:g.122724T>G;NM_000540.2:c.12282+3003T>G;NM_001042723.1:c.12267+3003T>G 340454820 142272816 20100804_snps_12098361_chr19_39042063 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39042085G>A;NG_008866.1:g.122746G>A;NM_000540.2:c.12282+3025G>A;NM_001042723.1:c.12267+3025G>A 465587035 182859291 20101123_snps_11754265_chr19_39042085 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39042233C>T;NG_008866.1:g.122894C>T;NM_000540.2:c.12282+3173C>T;NM_001042723.1:c.12267+3173C>T 340454821 151282136 20100804_snps_12098362_chr19_39042233 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39042236G>C;NG_008866.1:g.122897G>C;NM_000540.2:c.12282+3176G>C;NM_001042723.1:c.12267+3176G>C 228135951 115415740 pilot_1_YRI_9945634_chr19_43734076 9.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042259T>C;NG_008866.1:g.122920T>C;NM_000540.2:c.12282+3199T>C;NM_001042723.1:c.12267+3199T>C 340454822 139299611 20100804_snps_12098363_chr19_39042259 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39042294T>C;NG_008866.1:g.122955T>C;NM_000540.2:c.12282+3234T>C;NM_001042723.1:c.12267+3234T>C 465587036 188326687 20101123_snps_11754266_chr19_39042294 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39042310T>C;NG_008866.1:g.122971T>C;NM_000540.2:c.12282+3250T>C;NM_001042723.1:c.12267+3250T>C 340454823 150000875 20100804_snps_12098364_chr19_39042310 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39042373C>T;NG_008866.1:g.123034C>T;NM_000540.2:c.12282+3313C>T;NM_001042723.1:c.12267+3313C>T 340454824 147621132 20100804_snps_12098365_chr19_39042373 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39042637G>T;NG_008866.1:g.123298G>T;NM_000540.2:c.12282+3577G>T;NM_001042723.1:c.12267+3577G>T 10929146 7251737 chr19.NT_011109.15_11310855 4.10e-03 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042637G>T;NG_008866.1:g.123298G>T;NM_000540.2:c.12282+3577G>T;NM_001042723.1:c.12267+3577G>T 340454825 7251737 20100804_snps_12098366_chr19_39042637 4.10e-03 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042649G>A;NG_008866.1:g.123310G>A;NM_000540.2:c.12282+3589G>A;NM_001042723.1:c.12267+3589G>A 340454826 146179607 20100804_snps_12098367_chr19_39042649 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39042749G>A;NG_008866.1:g.123410G>A;NM_000540.2:c.12282+3689G>A;NM_001042723.1:c.12267+3689G>A 6628786 4802596 NT_011109.13_1197764 3.39e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042749G>A;NG_008866.1:g.123410G>A;NM_000540.2:c.12282+3689G>A;NM_001042723.1:c.12267+3689G>A 237674345 4802596 pilot_1_CEU_7278974_chr19_43734589 3.39e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042749G>A;NG_008866.1:g.123410G>A;NM_000540.2:c.12282+3689G>A;NM_001042723.1:c.12267+3689G>A 243881136 4802596 pilot_1_CHB+JPT_5766213_chr19_43734589 3.39e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39042749G>A;NG_008866.1:g.123410G>A;NM_000540.2:c.12282+3689G>A;NM_001042723.1:c.12267+3689G>A 283206190 4802596 GMI_AK_SNP_7526611 3.39e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 3112291 2176432 TSC1216878 1.28e-02 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 4171585 2176432 AC091486.2_79047 1.28e-02 2001.10.15 2003.10.10 2001.06.15 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 6628787 2176432 NT_011109.13_1197769 1.28e-02 2003.02.13 2003.10.10 2001.06.15 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 10929015 2176432 chr19.NT_011109.15_11310972 1.28e-02 2003.06.30 2003.11.10 2001.06.15 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 16790848 2176432 CSHL-HuAA-200402.chr19.NT_011109.15_11310972 1.28e-02 2004.02.18 2004.03.04 2001.06.15 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 21549095 2176432 WGSA-200403-chr19.chr19.NT_011109.15_11310972 1.28e-02 2004.03.20 2004.03.20 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 78687966 2176432 Cor18507_SNV_20070510.chr19_43734594 1.28e-02 2007.10.20 2007.10.20 2001.06.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 84669714 2176432 Cor18517_SNV_20070510.chr19_43734594 1.28e-02 2007.12.07 2007.12.07 2001.06.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 90970021 2176432 JWB-1168235 1.28e-02 2008.03.01 2008.03.01 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 96266978 2176432 1103691141937 1.28e-02 2008.03.26 2008.03.26 2001.06.15 2012.11.28 137 BGI 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 103437779 2176432 BGI_rs2176432 1.28e-02 2008.06.06 2009.06.17 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 111366112 2176432 CEU.trio.12.15.2008_3616699_chr19_43734594 1.28e-02 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 117702715 2176432 NA18507_000043946_NCBI36.1_chr19_43734594 1.28e-02 2009.01.20 2009.01.20 2001.06.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 136267447 2176432 ENSSNP1527973 1.28e-02 2009.05.15 2009.10.15 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 155887909 2176432 GMI_SNP_179730879 1.28e-02 2009.06.24 2009.06.24 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 168184084 2176432 NA07022_36_chr19_43734594 1.28e-02 2009.09.30 2009.09.30 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 169708915 2176432 NA19240_36_chr19_43734594 1.28e-02 2009.10.01 2009.10.01 2001.06.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 203751078 2176432 BUSHMAN-chr19-43734593 1.28e-02 2010.03.09 2010.03.09 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 208532612 2176432 BCM_CMT_1011-3135533 1.28e-02 2010.03.19 2010.03.19 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 228135952 2176432 pilot_1_YRI_9945635_chr19_43734594 1.28e-02 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 237674346 2176432 pilot_1_CEU_7278975_chr19_43734594 1.28e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 243881137 2176432 pilot_1_CHB+JPT_5766214_chr19_43734594 1.28e-02 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 BL 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 255669019 2176432 SNP49750_19_43734594 1.28e-02 2010.08.20 2010.08.20 2001.06.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 283206191 2176432 GMI_AK_SNP_7526612 1.28e-02 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39042754C>A;NG_008866.1:g.123415C>A;NM_000540.2:c.12282+3694C>A;NM_001042723.1:c.12267+3694C>A 292248562 2176432 SNP_1754920_chr19_43734594 1.28e-02 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39042757T>A;NG_008866.1:g.123418T>A;NM_000540.2:c.12282+3697T>A;NM_001042723.1:c.12267+3697T>A 465587037 192773920 20101123_snps_11754267_chr19_39042757 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39042767A>G;NG_008866.1:g.123428A>G;NM_000540.2:c.12282+3707A>G;NM_001042723.1:c.12267+3707A>G 465587038 183559580 20101123_snps_11754268_chr19_39042767 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39043019C>T;NG_008866.1:g.123680C>T;NM_000540.2:c.12282+3959C>T;NM_001042723.1:c.12267+3959C>T 465587039 188336222 20101123_snps_11754269_chr19_39043019 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39043075G>A;NG_008866.1:g.123736G>A;NM_000540.2:c.12282+4015G>A;NM_001042723.1:c.12267+4015G>A 340454827 147847647 20100804_snps_12098368_chr19_39043075 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043082_39043083insG;NG_008866.1:g.123743_123744insG;NM_000540.2:c.12282+4022_12282+4023insG;NM_001042723.1:c.12267+4022_12267+4023insG 499576438 200716379 20110316_indels_chr19_39043082_39043083 2.11e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39043084G>A;NG_008866.1:g.123745G>A;NM_000540.2:c.12282+4024G>A;NM_001042723.1:c.12267+4024G>A 340454828 148836407 20100804_snps_12098369_chr19_39043084 1.47e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043142C>T;NG_008866.1:g.123803C>T;NM_000540.2:c.12282+4082C>T;NM_001042723.1:c.12267+4082C>T 340454829 143433608 20100804_snps_12098370_chr19_39043142 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043308G>A;NG_008866.1:g.123969G>A;NM_000540.2:c.12282+4248G>A;NM_001042723.1:c.12267+4248G>A 465587040 192452727 20101123_snps_11754270_chr19_39043308 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39043319A>G;NG_008866.1:g.123980A>G;NM_000540.2:c.12282+4259A>G;NM_001042723.1:c.12267+4259A>G 203751079 113192159 BUSHMAN-chr19-43735158 4.10e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39043319A>G;NG_008866.1:g.123980A>G;NM_000540.2:c.12282+4259A>G;NM_001042723.1:c.12267+4259A>G 340454830 113192159 20100804_snps_12098371_chr19_39043319 4.10e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39043386G>A;NG_008866.1:g.124047G>A;NM_000540.2:c.12282+4326G>A;NM_001042723.1:c.12267+4326G>A 203751080 113558061 BUSHMAN-chr19-43735225 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043399C>T;NG_008866.1:g.124060C>T;NM_000540.2:c.12282+4339C>T;NM_001042723.1:c.12267+4339C>T 340454831 141689641 20100804_snps_12098372_chr19_39043399 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043586C>A;NG_008866.1:g.124247C>A;NM_000540.2:c.12282+4526C>A;NM_001042723.1:c.12267+4526C>A 237674347 78632348 pilot_1_CEU_7278976_chr19_43735426 5.45e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39043646T>C;NG_008866.1:g.124307T>C;NM_000540.2:c.12282+4586T>C;NM_001042723.1:c.12267+4586T>C 243881138 78487222 pilot_1_CHB+JPT_5766215_chr19_43735486 2.34e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39043646T>C;NG_008866.1:g.124307T>C;NM_000540.2:c.12282+4586T>C;NM_001042723.1:c.12267+4586T>C 283206192 78487222 GMI_AK_SNP_7526613 2.34e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39043670G>A;NG_008866.1:g.124331G>A;NM_000540.2:c.12282+4610G>A;NM_001042723.1:c.12267+4610G>A 465587041 184736233 20101123_snps_11754271_chr19_39043670 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39043699A>T;NG_008866.1:g.124360A>T;NM_000540.2:c.12282+4639A>T;NM_001042723.1:c.12267+4639A>T 283206193 201808173 GMI_AK_SNP_7526614 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 6261 NC_000019.9:g.39043721T>C;NG_008866.1:g.124382T>C;NM_000540.2:c.12282+4661T>C;NM_001042723.1:c.12267+4661T>C 283206194 199831067 GMI_AK_SNP_7526615 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39043740A>G;NG_008866.1:g.124401A>G;NM_000540.2:c.12282+4680A>G;NM_001042723.1:c.12267+4680A>G 208565301 111869074 BCM_CMT_1011-3146452 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 GMI 6261 NC_000019.9:g.39043765A>G;NG_008866.1:g.124426A>G;NM_000540.2:c.12282+4705A>G;NM_001042723.1:c.12267+4705A>G 283206195 200549299 GMI_AK_SNP_7526616 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39043947C>G;NG_008866.1:g.124608C>G;NM_000540.2:c.12282+4887C>G;NM_001042723.1:c.12267+4887C>G 340454832 144643290 20100804_snps_12098373_chr19_39043947 2.38e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39043988A>T;NG_008866.1:g.124649A>T;NM_000540.2:c.12282+4928A>T;NM_001042723.1:c.12267+4928A>T 465587042 189796192 20101123_snps_11754272_chr19_39043988 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39043989A>C;NG_008866.1:g.124650A>C;NM_000540.2:c.12282+4929A>C;NM_001042723.1:c.12267+4929A>C 465587043 182056580 20101123_snps_11754273_chr19_39043989 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39044119_39044120insA;NG_008866.1:g.124780_124781insA;NM_000540.2:c.12282+5059_12282+5060insA;NM_001042723.1:c.12267+5059_12267+5060insA 41031721 35593643 hCV32823642 2005.07.17 2005.07.17 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39044119_39044120insA;NG_008866.1:g.124780_124781insA;NM_000540.2:c.12282+5059_12282+5060insA;NM_001042723.1:c.12267+5059_12267+5060insA 96281050 35593643 1103691141935 2008.03.26 2008.03.26 2006.03.15 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39044119_39044120insA;NG_008866.1:g.124780_124781insA;NM_000540.2:c.12282+5059_12282+5060insA;NM_001042723.1:c.12267+5059_12267+5060insA 193510367 35593643 BUSHMAN-chr19-43735959-43735959 2010.02.16 2010.02.16 2006.03.15 2011.09.09 137 HGSV 6261 NC_000019.9:g.39044120_39044121insA;NG_008866.1:g.124781_124782insA;NM_000540.2:c.12282+5060_12282+5061insA;NM_001042723.1:c.12267+5060_12267+5061insA 82573879 60075757 Cor19240_DIV_20070510.chr19_43735972-43735973_1 2007.12.03 2007.12.03 2007.12.15 2012.05.11 137 HGSV 6261 NC_000019.9:g.39044120_39044121insA;NG_008866.1:g.124781_124782insA;NM_000540.2:c.12282+5060_12282+5061insA;NM_001042723.1:c.12267+5060_12267+5061insA 82599519 60075757 Cor19240_DIV_20070510.chr19_43735972-43735973_2 2007.12.03 2007.12.03 2007.12.15 2012.05.11 137 PJP 6261 NC_000019.9:g.39044120_39044121insA;NG_008866.1:g.124781_124782insA;NM_000540.2:c.12282+5060_12282+5061insA;NM_001042723.1:c.12267+5060_12267+5061insA 294962552 60075757 DIP_400256_chr19_43735966 2011.01.22 2011.01.22 2007.12.15 2012.05.11 137 ENSEMBL 6261 NC_000019.9:g.39044132A>T;NG_008866.1:g.124793A>T;NM_000540.2:c.12282+5072A>T;NM_001042723.1:c.12267+5072A>T 137670582 74993608 ENSSNP11444399 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39044133T>A;NG_008866.1:g.124794T>A;NM_000540.2:c.12282+5073T>A;NM_001042723.1:c.12267+5073T>A 137670586 79940458 ENSSNP11444400 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39044157G>A;NG_008866.1:g.124818G>A;NM_000540.2:c.12282+5097G>A;NM_001042723.1:c.12267+5097G>A 340454833 138413671 20100804_snps_12098374_chr19_39044157 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39044199_39044200insG;NG_008866.1:g.124860_124861insG;NM_000540.2:c.12282+5139_12282+5140insG;NM_001042723.1:c.12267+5139_12267+5140insG 41023707 34827603 hCV32823643 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39044202G>A;NG_008866.1:g.124863G>A;NM_000540.2:c.12282+5142G>A;NM_001042723.1:c.12267+5142G>A 203751081 112627315 BUSHMAN-chr19-43736041 3.70e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044202G>A;NG_008866.1:g.124863G>A;NM_000540.2:c.12282+5142G>A;NM_001042723.1:c.12267+5142G>A 465587044 112627315 20101123_snps_11754274_chr19_39044202 3.70e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044398C>T;NG_008866.1:g.125059C>T;NM_000540.2:c.12282+5338C>T;NM_001042723.1:c.12267+5338C>T 340454834 142912005 20100804_snps_12098375_chr19_39044398 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39044425A>G;NG_008866.1:g.125086A>G;NM_000540.2:c.12282+5365A>G;NM_001042723.1:c.12267+5365A>G 1466345 1004795 TSC0080794 3.39e-02 2000.09.07 2004.10.21 2000.10.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39044425A>G;NG_008866.1:g.125086A>G;NM_000540.2:c.12282+5365A>G;NM_001042723.1:c.12267+5365A>G 44177306 1004795 hCV1722544 3.39e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044425A>G;NG_008866.1:g.125086A>G;NM_000540.2:c.12282+5365A>G;NM_001042723.1:c.12267+5365A>G 161878521 1004795 ENSSNP1527974 3.39e-02 2009.09.26 2009.09.26 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044425A>G;NG_008866.1:g.125086A>G;NM_000540.2:c.12282+5365A>G;NM_001042723.1:c.12267+5365A>G 243881139 1004795 pilot_1_CHB+JPT_5766216_chr19_43736265 3.39e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39044425A>G;NG_008866.1:g.125086A>G;NM_000540.2:c.12282+5365A>G;NM_001042723.1:c.12267+5365A>G 283206196 1004795 GMI_AK_SNP_7526617 3.39e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044442_39044445delACAA;NG_008866.1:g.125103_125106delACAA;NM_000540.2:c.12282+5382_12282+5385delACAA;NM_001042723.1:c.12267+5382_12267+5385delACAA 328276260 146004231 YRI_chr19_43736281_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 1466346 1004796 TSC0080795 3.39e-02 2000.09.07 2004.05.17 2000.10.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 44173824 1004796 hCV1722545 3.39e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 161878522 1004796 ENSSNP1527975 3.39e-02 2009.09.26 2010.03.07 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 237674348 1004796 pilot_1_CEU_7278977_chr19_43736332 3.39e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 243881140 1004796 pilot_1_CHB+JPT_5766217_chr19_43736332 3.39e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39044492C>T;NG_008866.1:g.125153C>T;NM_000540.2:c.12282+5432C>T;NM_001042723.1:c.12267+5432C>T 283206197 1004796 GMI_AK_SNP_7526618 3.39e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044553T>C;NG_008866.1:g.125214T>C;NM_000540.2:c.12282+5493T>C;NM_001042723.1:c.12267+5493T>C 228135953 114416812 pilot_1_YRI_9945636_chr19_43736393 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39044553T>C;NG_008866.1:g.125214T>C;NM_000540.2:c.12282+5493T>C;NM_001042723.1:c.12267+5493T>C 482338937 114416812 HumanOmni2.5-4v1_D_kgp21457675-0_T_R_1844267636 4.10e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39044553T>C;NG_008866.1:g.125214T>C;NM_000540.2:c.12282+5493T>C;NM_001042723.1:c.12267+5493T>C 483826076 114416812 HumanOmni2.5-4v1_B_SNP19-43736393-0_T_R_1637722321 4.10e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044574G>A;NG_008866.1:g.125235G>A;NM_000540.2:c.12282+5514G>A;NM_001042723.1:c.12267+5514G>A 340454835 146167855 20100804_snps_12098376_chr19_39044574 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39044745G>A;NG_008866.1:g.125406G>A;NM_000540.2:c.12282+5685G>A;NM_001042723.1:c.12267+5685G>A 340454836 139966320 20100804_snps_12098377_chr19_39044745 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39044753G>A;NG_008866.1:g.125414G>A;NM_000540.2:c.12282+5693G>A;NM_001042723.1:c.12267+5693G>A 211962665 114259985 YRI.trio.3.2010_1440269_chr19_43736593 5.00e-04 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044753G>A;NG_008866.1:g.125414G>A;NM_000540.2:c.12282+5693G>A;NM_001042723.1:c.12267+5693G>A 465587045 114259985 20101123_snps_11754275_chr19_39044753 5.00e-04 2011.07.20 2011.07.20 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044767_39044768insC;NG_008866.1:g.125428_125429insC;NM_000540.2:c.12282+5707_12282+5708insC;NM_001042723.1:c.12267+5707_12267+5708insC 328276261 148630282 YRI_chr19_43736607_indel 1.37e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044767_39044768insC;NG_008866.1:g.125428_125429insC;NM_000540.2:c.12282+5707_12282+5708insC;NM_001042723.1:c.12267+5707_12267+5708insC 499576442 148630282 20110316_indels_chr19_39044767_39044768 1.37e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39044768A>G;NG_008866.1:g.125429A>G;NM_000540.2:c.12282+5708A>G;NM_001042723.1:c.12267+5708A>G 465587046 181434669 20101123_snps_11754276_chr19_39044768 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 6261 NC_000019.9:g.39044909C>T;NG_008866.1:g.125570C>T;NM_000540.2:c.12282+5849C>T;NM_001042723.1:c.12267+5849C>T 137670588 79201889 ENSSNP11444401 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39044921A>T;NG_008866.1:g.125582A>T;NM_000540.2:c.12282+5861A>T;NM_001042723.1:c.12267+5861A>T 137670591 78301930 ENSSNP11444402 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39044927A>G;NG_008866.1:g.125588A>G;NM_000540.2:c.12282+5867A>G;NM_001042723.1:c.12267+5867A>G 137670594 75840639 ENSSNP11444403 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 12454034 8102403 chr19.NT_011109.15_11313183 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 137670597 8102403 ENSSNP11444404 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 169708931 8102403 NA19240_36_chr19_43736805 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 208496851 8102403 BCM_CMT_1011-3123192 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 255669024 8102403 SNP49751_19_43736805 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39044965A>G;NG_008866.1:g.125626A>G;NM_000540.2:c.12282+5905A>G;NM_001042723.1:c.12267+5905A>G 283206198 8102403 GMI_AK_SNP_7526619 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 19403642 11083465 CSHL-HuDD-200402.chr19.NT_011109.15_11313193 2004.02.21 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 20068054 11083465 CSHL-HuFF-200402.chr19.NT_011109.15_11313193 2004.02.22 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 21526311 11083465 WGSA-200403-chr19.chr19.NT_011109.15_11313193 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 80959280 11083465 Cor18507_SNV_20070510.chr19_43736815 2007.11.27 2007.11.27 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 84164681 11083465 Cor18555_SNV_20070510.chr19_43736815 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 86086535 11083465 Cor18956_SNV_20070510.chr19_43736815 2007.12.11 2007.12.11 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 143473117 11083465 ENSSNP9725288 2009.06.06 2009.10.17 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 255669028 11083465 SNP49752_19_43736815 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.39044975C>T;NG_008866.1:g.125636C>T;NM_000540.2:c.12282+5915C>T;NM_001042723.1:c.12267+5915C>T 283206199 11083465 GMI_AK_SNP_7526620 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 19403643 11083466 CSHL-HuDD-200402.chr19.NT_011109.15_11313194 2004.02.21 2004.03.04 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 20068055 11083466 CSHL-HuFF-200402.chr19.NT_011109.15_11313194 2004.02.22 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 21526314 11083466 WGSA-200403-chr19.chr19.NT_011109.15_11313194 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 80599462 11083466 Cor18507_SNV_20070510.chr19_43736816 2007.11.26 2007.11.26 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 84214737 11083466 Cor18555_SNV_20070510.chr19_43736816 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 86105261 11083466 Cor18956_SNV_20070510.chr19_43736816 2007.12.11 2007.12.11 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 139583792 11083466 ENSSNP3480515 2009.05.19 2009.10.16 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 255669034 11083466 SNP49753_19_43736816 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.39044976C>G;NG_008866.1:g.125637C>G;NM_000540.2:c.12282+5916C>G;NM_001042723.1:c.12267+5916C>G 283206200 11083466 GMI_AK_SNP_7526621 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 12454597 8102734 chr19.NT_011109.15_11313199 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 96266979 8102734 1103691141947 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 137670601 8102734 ENSSNP11444405 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 169708953 8102734 NA19240_36_chr19_43736821 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 208515367 8102734 BCM_CMT_1011-3129718 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 255669039 8102734 SNP49754_19_43736821 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39044981G>A;NG_008866.1:g.125642G>A;NM_000540.2:c.12282+5921G>A;NM_001042723.1:c.12267+5921G>A 283206201 8102734 GMI_AK_SNP_7526622 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39044998_39044999insG;NG_008866.1:g.125659_125660insG;NM_000540.2:c.12282+5938_12282+5939insG;NM_001042723.1:c.12267+5938_12267+5939insG 193510369 112718443 BUSHMAN-chr19-43736838-43736838 2010.02.16 2010.02.16 2010.07.04 2011.10.06 137 BL 6261 NC_000019.9:g.39044998_39044999insG;NG_008866.1:g.125659_125660insG;NM_000540.2:c.12282+5938_12282+5939insG;NM_001042723.1:c.12267+5938_12267+5939insG 256205659 112718443 SNP3821_19_43736838 2010.08.20 2010.08.20 2010.07.04 2011.10.06 137 HGSV 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 79765441 59491530 Cor18507_DIV_20070510.chr19_43736839-43736840_1 2007.11.23 2007.11.23 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 81093248 59491530 Cor18956_DIV_20070510.chr19_43736839-43736840_1 2007.11.27 2007.11.27 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 81175311 59491530 Cor18956_DIV_20070510.chr19_43736839-43736840_2 2007.11.28 2007.11.28 2007.12.15 2011.07.08 137 HGSV 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 82220124 59491530 Cor18555_DIV_20070510.chr19_43736839-43736840_1 2007.12.02 2007.12.02 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174769 59491530 INDEL_GP36_2008a_1674180_0 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174773 59491530 INDEL_GP36_2008a_1674180_1 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174777 59491530 INDEL_GP36_2008a_1674180_2 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174780 59491530 INDEL_GP36_2008a_1674180_3 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174783 59491530 INDEL_GP36_2008a_1674180_4 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174786 59491530 INDEL_GP36_2008a_1674180_5 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174787 59491530 INDEL_GP36_2008a_1674180_6 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39044999_39045000insG;NG_008866.1:g.125660_125661insG;NM_000540.2:c.12282+5939_12282+5940insG;NM_001042723.1:c.12267+5939_12267+5940insG 100174792 59491530 INDEL_GP36_2008a_1674180_7 2008.05.16 2008.05.16 2007.12.15 2011.07.08 137 GMI 6261 NC_000019.9:g.39045008T>G;NG_008866.1:g.125669T>G;NM_000540.2:c.12282+5948T>G;NM_001042723.1:c.12267+5948T>G 283206202 185283312 GMI_AK_SNP_7526623 2.88e-02 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39045008T>G;NG_008866.1:g.125669T>G;NM_000540.2:c.12282+5948T>G;NM_001042723.1:c.12267+5948T>G 465587047 185283312 20101123_snps_11754277_chr19_39045008 2.88e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 14758264 10439092 NT_011109.15_11313233 2003.11.12 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 16800359 10439092 CSHL-HuAA-200402.chr19.NT_011109.15_11313233 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 19403702 10439092 CSHL-HuDD-200402.chr19.NT_011109.15_11313233 2004.02.21 2004.03.04 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 81289016 10439092 Cor18507_SNV_20070510.chr19_43736855 2007.11.29 2007.11.29 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 81956025 10439092 Cor18555_SNV_20070510.chr19_43736855 2007.12.01 2007.12.01 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045015C>T;NG_008866.1:g.125676C>T;NM_000540.2:c.12282+5955C>T;NM_001042723.1:c.12267+5955C>T 82362584 10439092 Cor18956_SNV_20070510.chr19_43736855 2007.12.02 2007.12.02 2003.12.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 14758265 10439093 NT_011109.15_11313239 2003.11.12 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 16789041 10439093 CSHL-HuAA-200402.chr19.NT_011109.15_11313239 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 19396759 10439093 CSHL-HuDD-200402.chr19.NT_011109.15_11313239 2004.02.21 2004.03.04 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 81301005 10439093 Cor18507_SNV_20070510.chr19_43736861 2007.11.29 2007.11.29 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 82037012 10439093 Cor18555_SNV_20070510.chr19_43736861 2007.12.02 2007.12.02 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 82418586 10439093 Cor18956_SNV_20070510.chr19_43736861 2007.12.02 2007.12.02 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 255669045 10439093 SNP49755_19_43736861 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39045021T>G;NG_008866.1:g.125682T>G;NM_000540.2:c.12282+5961T>G;NM_001042723.1:c.12267+5961T>G 283206203 10439093 GMI_AK_SNP_7526624 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 14758266 10439094 NT_011109.15_11313263 2003.11.12 2003.11.22 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 81057313 10439094 Cor18507_SNV_20070510.chr19_43736885 2007.11.27 2007.11.27 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 84459435 10439094 Cor18555_SNV_20070510.chr19_43736885 2007.12.07 2007.12.07 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 86199530 10439094 Cor18956_SNV_20070510.chr19_43736885 2007.12.11 2007.12.11 2003.12.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 132762494 10439094 ENSSNP1527976 2009.05.12 2009.10.15 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 169708973 10439094 NA19240_36_chr19_43736885 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39045045T>C;NG_008866.1:g.125706T>C;NM_000540.2:c.12282+5985T>C;NM_001042723.1:c.12267+5985T>C 283206204 10439094 GMI_AK_SNP_7526625 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39045052C>T;NG_008866.1:g.125713C>T;NM_000540.2:c.12282+5992C>T;NM_001042723.1:c.12267+5992C>T 14758267 10439095 NT_011109.15_11313270 2003.11.12 2003.11.22 2003.12.05 2011.09.09 137 HGSV 6261 NC_000019.9:g.39045052C>T;NG_008866.1:g.125713C>T;NM_000540.2:c.12282+5992C>T;NM_001042723.1:c.12267+5992C>T 79993028 10439095 Cor18507_SNV_20070510.chr19_43736892 2007.11.24 2007.11.24 2003.12.05 2011.09.09 137 HGSV 6261 NC_000019.9:g.39045052C>T;NG_008866.1:g.125713C>T;NM_000540.2:c.12282+5992C>T;NM_001042723.1:c.12267+5992C>T 83123182 10439095 Cor18555_SNV_20070510.chr19_43736892 2007.12.04 2007.12.04 2003.12.05 2011.09.09 137 HGSV 6261 NC_000019.9:g.39045052C>T;NG_008866.1:g.125713C>T;NM_000540.2:c.12282+5992C>T;NM_001042723.1:c.12267+5992C>T 83424853 10439095 Cor18956_SNV_20070510.chr19_43736892 2007.12.05 2007.12.05 2003.12.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39045052C>T;NG_008866.1:g.125713C>T;NM_000540.2:c.12282+5992C>T;NM_001042723.1:c.12267+5992C>T 169708988 10439095 NA19240_36_chr19_43736892 2009.10.01 2009.10.01 2003.12.05 2011.09.09 137 SC_SNP 6261 NC_000019.9:g.39045061T>A;NG_008866.1:g.125722T>A;NM_000540.2:c.12282+6001T>A;NM_001042723.1:c.12267+6001T>A 14758268 10439096 NT_011109.15_11313279 2003.11.12 2003.11.22 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045061T>A;NG_008866.1:g.125722T>A;NM_000540.2:c.12282+6001T>A;NM_001042723.1:c.12267+6001T>A 80105682 10439096 Cor18507_SNV_20070510.chr19_43736901 2007.11.24 2007.11.24 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045061T>A;NG_008866.1:g.125722T>A;NM_000540.2:c.12282+6001T>A;NM_001042723.1:c.12267+6001T>A 83310797 10439096 Cor18555_SNV_20070510.chr19_43736901 2007.12.04 2007.12.04 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045061T>A;NG_008866.1:g.125722T>A;NM_000540.2:c.12282+6001T>A;NM_001042723.1:c.12267+6001T>A 83614738 10439096 Cor18956_SNV_20070510.chr19_43736901 2007.12.05 2007.12.05 2003.12.05 2011.07.08 137 SC_SNP 6261 NC_000019.9:g.39045062G>T;NG_008866.1:g.125723G>T;NM_000540.2:c.12282+6002G>T;NM_001042723.1:c.12267+6002G>T 14758269 10439097 NT_011109.15_11313280 2003.11.12 2003.11.22 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045062G>T;NG_008866.1:g.125723G>T;NM_000540.2:c.12282+6002G>T;NM_001042723.1:c.12267+6002G>T 78782799 10439097 Cor18507_SNV_20070510.chr19_43736902 2007.10.20 2007.10.20 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045062G>T;NG_008866.1:g.125723G>T;NM_000540.2:c.12282+6002G>T;NM_001042723.1:c.12267+6002G>T 82105285 10439097 Cor18555_SNV_20070510.chr19_43736902 2007.12.02 2007.12.02 2003.12.05 2011.07.08 137 HGSV 6261 NC_000019.9:g.39045062G>T;NG_008866.1:g.125723G>T;NM_000540.2:c.12282+6002G>T;NM_001042723.1:c.12267+6002G>T 82465791 10439097 Cor18956_SNV_20070510.chr19_43736902 2007.12.02 2007.12.02 2003.12.05 2011.07.08 137 SC_SNP 6261 NC_000019.9:g.39045068G>A;NG_008866.1:g.125729G>A;NM_000540.2:c.12282+6008G>A;NM_001042723.1:c.12267+6008G>A 14758270 10439098 NT_011109.15_11313286 2003.11.12 2003.11.22 2003.12.05 2011.07.08 137 BL 6261 NC_000019.9:g.39045095G>A;NG_008866.1:g.125756G>A;NM_000540.2:c.12282+6035G>A;NM_001042723.1:c.12267+6035G>A 255669051 148070515 SNP49756_19_43736935 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 BL 6261 NC_000019.9:g.39045096A>G;NG_008866.1:g.125757A>G;NM_000540.2:c.12282+6036A>G;NM_001042723.1:c.12267+6036A>G 255669054 140381270 SNP49757_19_43736936 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39045313A>G;NG_008866.1:g.125974A>G;NM_000540.2:c.12282+6253A>G;NM_001042723.1:c.12267+6253A>G 465587048 189891083 20101123_snps_11754278_chr19_39045313 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045401C>A;NG_008866.1:g.126062C>A;NM_000540.2:c.12282+6341C>A;NM_001042723.1:c.12267+6341C>A 465587049 183222504 20101123_snps_11754279_chr19_39045401 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045678C>T;NG_008866.1:g.126339C>T;NM_000540.2:c.12283-6075C>T;NM_001042723.1:c.12268-6075C>T 340454842 140550047 20100804_snps_12098383_chr19_39045678 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39045716C>G;NG_008866.1:g.126377C>G;NM_000540.2:c.12283-6037C>G;NM_001042723.1:c.12268-6037C>G 340454843 144406110 20100804_snps_12098384_chr19_39045716 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39045721C>T;NG_008866.1:g.126382C>T;NM_000540.2:c.12283-6032C>T;NM_001042723.1:c.12268-6032C>T 111366120 73032648 CEU.trio.12.15.2008_3616700_chr19_43737561 7.46e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39045721C>T;NG_008866.1:g.126382C>T;NM_000540.2:c.12283-6032C>T;NM_001042723.1:c.12268-6032C>T 208474301 73032648 BCM_CMT_1011-3115579 7.46e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39045721C>T;NG_008866.1:g.126382C>T;NM_000540.2:c.12283-6032C>T;NM_001042723.1:c.12268-6032C>T 237674354 73032648 pilot_1_CEU_7278983_chr19_43737561 7.46e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39045721C>T;NG_008866.1:g.126382C>T;NM_000540.2:c.12283-6032C>T;NM_001042723.1:c.12268-6032C>T 243881141 73032648 pilot_1_CHB+JPT_5766218_chr19_43737561 7.46e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39045721C>T;NG_008866.1:g.126382C>T;NM_000540.2:c.12283-6032C>T;NM_001042723.1:c.12268-6032C>T 283206205 73032648 GMI_AK_SNP_7526626 7.46e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39045782A>G;NG_008866.1:g.126443A>G;NM_000540.2:c.12283-5971A>G;NM_001042723.1:c.12268-5971A>G 465587050 187566991 20101123_snps_11754280_chr19_39045782 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045818C>T;NG_008866.1:g.126479C>T;NM_000540.2:c.12283-5935C>T;NM_001042723.1:c.12268-5935C>T 465587051 191445963 20101123_snps_11754281_chr19_39045818 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 MPI_MOLGEN 6261 NC_000019.9:g.39045818C>T;NG_008866.1:g.126479C>T;NM_000540.2:c.12283-5935C>T;NM_001042723.1:c.12268-5935C>T 469257101 191445963 Chromosome19_43737658 5.00e-04 2011.08.15 2011.08.15 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045852A>G;NG_008866.1:g.126513A>G;NM_000540.2:c.12283-5901A>G;NM_001042723.1:c.12268-5901A>G 465587052 183600974 20101123_snps_11754282_chr19_39045852 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39045856C>A;NG_008866.1:g.126517C>A;NM_000540.2:c.12283-5897C>A;NM_001042723.1:c.12268-5897C>A 203751082 113241159 BUSHMAN-chr19-43737695 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39045859A>G;NG_008866.1:g.126520A>G;NM_000540.2:c.12283-5894A>G;NM_001042723.1:c.12268-5894A>G 465587053 188487721 20101123_snps_11754283_chr19_39045859 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045910G>C;NG_008866.1:g.126571G>C;NM_000540.2:c.12283-5843G>C;NM_001042723.1:c.12268-5843G>C 340454844 151229391 20100804_snps_12098385_chr19_39045910 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39045921T>C;NG_008866.1:g.126582T>C;NM_000540.2:c.12283-5832T>C;NM_001042723.1:c.12268-5832T>C 465587054 192905605 20101123_snps_11754284_chr19_39045921 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39045951G>A;NG_008866.1:g.126612G>A;NM_000540.2:c.12283-5802G>A;NM_001042723.1:c.12268-5802G>A 340454845 140384254 20100804_snps_12098386_chr19_39045951 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39045972G>A;NG_008866.1:g.126633G>A;NM_000540.2:c.12283-5781G>A;NM_001042723.1:c.12268-5781G>A 465587055 182674133 20101123_snps_11754285_chr19_39045972 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39046087delA;NG_008866.1:g.126748delA;NM_000540.2:c.12283-5666delA;NM_001042723.1:c.12268-5666delA 82102352 56911809 Cor18555_DIV_20070510.chr19_43737944-43737946_1 2007.12.02 2007.12.02 2007.12.14 2011.07.08 137 BCMHGSC_JDW 6261 NC_000019.9:g.39046087_39046089delAAA;NG_008866.1:g.126748_126750delAAA;NM_000540.2:c.12283-5666_12283-5664delAAA;NM_001042723.1:c.12268-5666_12268-5664delAAA 103616571 78380610 JWB-4066194 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 GMI 6261 NC_000019.9:g.39046091_39046092insTAC;NG_008866.1:g.126752_126753insTAC;NM_000540.2:c.12283-5662_12283-5661insTAC;NM_001042723.1:c.12268-5662_12268-5661insTAC 289387919 201279949 GMI_AK_INDEL_1065376 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 ABI 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 40989305 34128862 hCV26218748 4.12e-02 2005.07.17 2005.07.17 2006.03.13 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 90970023 34128862 JWB-1168236 4.12e-02 2008.03.01 2008.03.01 2006.03.13 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 117702717 34128862 NA18507_000043947_NCBI36.1_chr19_43737955 4.12e-02 2009.01.20 2009.01.20 2006.03.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 132762497 34128862 ENSSNP1527977 4.12e-02 2009.05.12 2009.10.15 2006.03.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 137670604 34128862 ENSSNP11444406 4.12e-02 2009.05.16 2009.05.16 2006.03.13 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 203751083 34128862 BUSHMAN-chr19-43737954 4.12e-02 2010.03.09 2010.03.09 2006.03.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 228135955 34128862 pilot_1_YRI_9945638_chr19_43737955 4.12e-02 2010.04.22 2010.04.22 2006.03.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39046115G>A;NG_008866.1:g.126776G>A;NM_000540.2:c.12283-5638G>A;NM_001042723.1:c.12268-5638G>A 237674356 34128862 pilot_1_CEU_7278985_chr19_43737955 4.12e-02 2010.05.01 2010.05.01 2006.03.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39046124C>T;NG_008866.1:g.126785C>T;NM_000540.2:c.12283-5629C>T;NM_001042723.1:c.12268-5629C>T 340454847 144903129 20100804_snps_12098388_chr19_39046124 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39046136T>C;NG_008866.1:g.126797T>C;NM_000540.2:c.12283-5617T>C;NM_001042723.1:c.12268-5617T>C 168184098 76161683 NA07022_36_chr19_43737976 3.89e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046136T>C;NG_008866.1:g.126797T>C;NM_000540.2:c.12283-5617T>C;NM_001042723.1:c.12268-5617T>C 237674357 76161683 pilot_1_CEU_7278986_chr19_43737976 3.89e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BL 6261 NC_000019.9:g.39046136T>C;NG_008866.1:g.126797T>C;NM_000540.2:c.12283-5617T>C;NM_001042723.1:c.12268-5617T>C 255669058 76161683 SNP49758_19_43737976 3.89e-02 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046193C>T;NG_008866.1:g.126854C>T;NM_000540.2:c.12283-5560C>T;NM_001042723.1:c.12268-5560C>T 237674358 80112459 pilot_1_CEU_7278987_chr19_43738033 1.24e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39046193C>T;NG_008866.1:g.126854C>T;NM_000540.2:c.12283-5560C>T;NM_001042723.1:c.12268-5560C>T 483408291 80112459 HumanOmni2.5-4v1_D_kgp4719058-0_B_F_1816040038 1.24e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39046193C>T;NG_008866.1:g.126854C>T;NM_000540.2:c.12283-5560C>T;NM_001042723.1:c.12268-5560C>T 483826078 80112459 HumanOmni2.5-4v1_B_SNP19-43738033-0_B_F_1644451123 1.24e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046371T>C;NG_008866.1:g.127032T>C;NM_000540.2:c.12283-5382T>C;NM_001042723.1:c.12268-5382T>C 465587056 186489544 20101123_snps_11754286_chr19_39046371 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39046373A>C;NG_008866.1:g.127034A>C;NM_000540.2:c.12283-5380A>C;NM_001042723.1:c.12268-5380A>C 228135956 116350411 pilot_1_YRI_9945639_chr19_43738213 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39046482A>G;NG_008866.1:g.127143A>G;NM_000540.2:c.12283-5271A>G;NM_001042723.1:c.12268-5271A>G 465587057 191286566 20101123_snps_11754287_chr19_39046482 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39046568A>G;NG_008866.1:g.127229A>G;NM_000540.2:c.12283-5185A>G;NM_001042723.1:c.12268-5185A>G 340454848 149020343 20100804_snps_12098389_chr19_39046568 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39046639G>C;NG_008866.1:g.127300G>C;NM_000540.2:c.12283-5114G>C;NM_001042723.1:c.12268-5114G>C 283206206 144680531 GMI_AK_SNP_7526627 2.79e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046639G>C;NG_008866.1:g.127300G>C;NM_000540.2:c.12283-5114G>C;NM_001042723.1:c.12268-5114G>C 340454849 144680531 20100804_snps_12098390_chr19_39046639 2.79e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046653G>A;NG_008866.1:g.127314G>A;NM_000540.2:c.12283-5100G>A;NM_001042723.1:c.12268-5100G>A 465587058 184592106 20101123_snps_11754288_chr19_39046653 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 21516320 12974185 WGSA-200403-chr19.chr19.NT_011109.15_11314889 4.26e-02 2004.03.20 2004.03.20 2004.04.05 2011.09.09 137 ABI 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 41029800 12974185 hCV2600233 4.26e-02 2005.07.17 2005.07.17 2004.04.05 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 90970025 12974185 JWB-1168237 4.26e-02 2008.03.01 2008.03.01 2004.04.05 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 137670606 12974185 ENSSNP11444407 4.26e-02 2009.05.16 2009.05.16 2004.04.05 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 203751084 12974185 BUSHMAN-chr19-43738510 4.26e-02 2010.03.09 2010.03.09 2004.04.05 2011.09.09 137 PJP 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 292248563 12974185 SNP_1754921_chr19_43738511 4.26e-02 2011.01.21 2011.01.21 2004.04.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39046671T>G;NG_008866.1:g.127332T>G;NM_000540.2:c.12283-5082T>G;NM_001042723.1:c.12268-5082T>G 340454850 12974185 20100804_snps_12098391_chr19_39046671 4.26e-02 2011.03.22 2011.03.22 2004.04.05 2011.09.09 137 SSAHASNP 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 21512495 12973045 WGSA-200403-chr19.chr19.NT_011109.15_11314937 2.06e-01 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 41027984 12973045 hCV2600234 2.06e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 81194004 12973045 Cor18507_SNV_20070510.chr19_43738559 2.06e-01 2007.11.28 2007.11.28 2004.04.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 84285183 12973045 Cor19129_SNV_20070510.chr19_43738559 2.06e-01 2007.12.06 2007.12.06 2004.04.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 90970027 12973045 JWB-1168238 2.06e-01 2008.03.01 2008.03.01 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 137670610 12973045 ENSSNP11444408 2.06e-01 2009.05.16 2009.05.16 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 169709015 12973045 NA19240_36_chr19_43738559 2.06e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 203751085 12973045 BUSHMAN-chr19-43738558 2.06e-01 2010.03.09 2010.03.09 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 208530124 12973045 BCM_CMT_1011-3134708 2.06e-01 2010.03.19 2010.03.19 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 228135957 12973045 pilot_1_YRI_9945640_chr19_43738559 2.06e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 237674359 12973045 pilot_1_CEU_7278988_chr19_43738559 2.06e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 243881142 12973045 pilot_1_CHB+JPT_5766219_chr19_43738559 2.06e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 283206207 12973045 GMI_AK_SNP_7526628 2.06e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39046719G>A;NG_008866.1:g.127380G>A;NM_000540.2:c.12283-5034G>A;NM_001042723.1:c.12268-5034G>A 292248564 12973045 SNP_1754922_chr19_43738559 2.06e-01 2011.01.21 2011.01.21 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39046820G>T;NG_008866.1:g.127481G>T;NM_000540.2:c.12283-4933G>T;NM_001042723.1:c.12268-4933G>T 137670613 77425025 ENSSNP11444409 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39046822T>G;NG_008866.1:g.127483T>G;NM_000540.2:c.12283-4931T>G;NM_001042723.1:c.12268-4931T>G 137670616 74720715 ENSSNP11444410 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39046827A>T;NG_008866.1:g.127488A>T;NM_000540.2:c.12283-4926A>T;NM_001042723.1:c.12268-4926A>T 137670619 75058898 ENSSNP11444411 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047103C>G;NG_008866.1:g.127764C>G;NM_000540.2:c.12283-4650C>G;NM_001042723.1:c.12268-4650C>G 465587059 190687186 20101123_snps_11754289_chr19_39047103 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 4151671 2945048 AC067969.1_37409 2.90e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 6627598 2945048 NT_011109.13_1202119 2.90e-01 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 19401010 2945048 CSHL-HuDD-200402.chr19.NT_011109.15_11315322 2.90e-01 2004.02.21 2004.03.04 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 41029574 2945048 hCV15952832 2.90e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 90970030 2945048 JWB-1168239 2.90e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 96305730 2945048 1103691141946 2.90e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 117702718 2945048 NA18507_000043948_NCBI36.1_chr19_43738944 2.90e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 143856222 2945048 ENSSNP1527978 2.90e-01 2009.06.06 2009.10.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 168184110 2945048 NA07022_36_chr19_43738944 2.90e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 169709031 2945048 NA19240_36_chr19_43738944 2.90e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 203751086 2945048 BUSHMAN-chr19-43738943 2.90e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 228135958 2945048 pilot_1_YRI_9945641_chr19_43738944 2.90e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 237674360 2945048 pilot_1_CEU_7278989_chr19_43738944 2.90e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 243881143 2945048 pilot_1_CHB+JPT_5766220_chr19_43738944 2.90e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 283206208 2945048 GMI_AK_SNP_7526629 2.90e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39047104T>A;NG_008866.1:g.127765T>A;NM_000540.2:c.12283-4649T>A;NM_001042723.1:c.12268-4649T>A 292248565 2945048 SNP_1754923_chr19_43738944 2.90e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39047120delA;NG_008866.1:g.127781delA;NM_000540.2:c.12283-4633delA;NM_001042723.1:c.12268-4633delA 289387920 199640435 GMI_AK_INDEL_1065377 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39047150C>T;NG_008866.1:g.127811C>T;NM_000540.2:c.12283-4603C>T;NM_001042723.1:c.12268-4603C>T 228135959 114554786 pilot_1_YRI_9945642_chr19_43738990 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047320G>A;NG_008866.1:g.127981G>A;NM_000540.2:c.12283-4433G>A;NM_001042723.1:c.12268-4433G>A 465587060 193131717 20101123_snps_11754290_chr19_39047320 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39047414G>A;NG_008866.1:g.128075G>A;NM_000540.2:c.12283-4339G>A;NM_001042723.1:c.12268-4339G>A 203751087 113772432 BUSHMAN-chr19-43739253 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047428A>C;NG_008866.1:g.128089A>C;NM_000540.2:c.12283-4325A>C;NM_001042723.1:c.12268-4325A>C 340454852 145101648 20100804_snps_12098393_chr19_39047428 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047457G>A;NG_008866.1:g.128118G>A;NM_000540.2:c.12283-4296G>A;NM_001042723.1:c.12268-4296G>A 340454853 148342732 20100804_snps_12098394_chr19_39047457 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 19408264 12462949 CSHL-HuDD-200402.chr19.NT_011109.15_11315737 2.79e-02 2004.02.21 2006.10.26 2004.02.28 2012.11.28 137 ABI 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 44191150 12462949 hCV2600235 2.79e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 76485102 12462949 AFFY_6_1M_SNP_A-8346056 2.79e-02 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 105056755 12462949 KHS1449078 2.79e-02 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 161878523 12462949 ENSSNP1527979 2.79e-02 2009.09.26 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 243881144 12462949 pilot_1_CHB+JPT_5766221_chr19_43739359 2.79e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39047519C>G;NG_008866.1:g.128180C>G;NM_000540.2:c.12283-4234C>G;NM_001042723.1:c.12268-4234C>G 283206209 12462949 GMI_AK_SNP_7526630 2.79e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047649T>C;NG_008866.1:g.128310T>C;NM_000540.2:c.12283-4104T>C;NM_001042723.1:c.12268-4104T>C 340454854 141588091 20100804_snps_12098395_chr19_39047649 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047664G>A;NG_008866.1:g.128325G>A;NM_000540.2:c.12283-4089G>A;NM_001042723.1:c.12268-4089G>A 340454855 150892293 20100804_snps_12098396_chr19_39047664 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39047688_39047689insT;NG_008866.1:g.128349_128350insT;NM_000540.2:c.12283-4065_12283-4064insT;NM_001042723.1:c.12268-4065_12268-4064insT 40995683 35027525 hCV32823644 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 GMI 6261 NC_000019.9:g.39047691C>T;NG_008866.1:g.128352C>T;NM_000540.2:c.12283-4062C>T;NM_001042723.1:c.12268-4062C>T 155887916 73032651 GMI_SNP_201295417 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39047691C>T;NG_008866.1:g.128352C>T;NM_000540.2:c.12283-4062C>T;NM_001042723.1:c.12268-4062C>T 283206210 73032651 GMI_AK_SNP_7526631 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39047692_39047693insT;NG_008866.1:g.128353_128354insT;NM_000540.2:c.12283-4061_12283-4060insT;NM_001042723.1:c.12268-4061_12268-4060insT 95728352 71165561 1104685411627 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.39047692_39047693insT;NG_008866.1:g.128353_128354insT;NM_000540.2:c.12283-4061_12283-4060insT;NM_001042723.1:c.12268-4061_12268-4060insT 294962553 71165561 DIP_400257_chr19_43739532 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 PJP 6261 NC_000019.9:g.39047692_39047693insT;NG_008866.1:g.128353_128354insT;NM_000540.2:c.12283-4061_12283-4060insT;NM_001042723.1:c.12268-4061_12268-4060insT 294962554 71165561 DIP_400258_chr19_43739551 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39047712G>T;NG_008866.1:g.128373G>T;NM_000540.2:c.12283-4041G>T;NM_001042723.1:c.12268-4041G>T 137670621 77168983 ENSSNP11444412 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39047713T>G;NG_008866.1:g.128374T>G;NM_000540.2:c.12283-4040T>G;NM_001042723.1:c.12268-4040T>G 96305731 71356811 1103691141948 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39047796C>A;NG_008866.1:g.128457C>A;NM_000540.2:c.12283-3957C>A;NM_001042723.1:c.12268-3957C>A 465587061 185284327 20101123_snps_11754291_chr19_39047796 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39047912G>A;NG_008866.1:g.128573G>A;NM_000540.2:c.12283-3841G>A;NM_001042723.1:c.12268-3841G>A 228135961 116162947 pilot_1_YRI_9945644_chr19_43739752 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39047912G>A;NG_008866.1:g.128573G>A;NM_000540.2:c.12283-3841G>A;NM_001042723.1:c.12268-3841G>A 482330266 116162947 HumanOmni2.5-4v1_D_kgp21409704-0_T_F_1844171700 8.20e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39047912G>A;NG_008866.1:g.128573G>A;NM_000540.2:c.12283-3841G>A;NM_001042723.1:c.12268-3841G>A 483826080 116162947 HumanOmni2.5-4v1_B_SNP19-43739752-0_T_F_1637580229 8.20e-03 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 BL 6261 NC_000019.9:g.39047972_39047973insG;NG_008866.1:g.128633_128634insG;NM_000540.2:c.12283-3781_12283-3780insG;NM_001042723.1:c.12268-3781_12268-3780insG 256205662 149848070 SNP3822_19_43739813 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39047972_39047973insG;NG_008866.1:g.128633_128634insG;NM_000540.2:c.12283-3781_12283-3780insG;NM_001042723.1:c.12268-3781_12268-3780insG 499576446 149848070 20110316_indels_chr19_39047973_39047974 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048031T>C;NG_008866.1:g.128692T>C;NM_000540.2:c.12283-3722T>C;NM_001042723.1:c.12268-3722T>C 340454856 138154233 20100804_snps_12098397_chr19_39048031 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39048045C>T;NG_008866.1:g.128706C>T;NM_000540.2:c.12283-3708C>T;NM_001042723.1:c.12268-3708C>T 465587062 190160708 20101123_snps_11754292_chr19_39048045 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39048129A>C;NG_008866.1:g.128790A>C;NM_000540.2:c.12283-3624A>C;NM_001042723.1:c.12268-3624A>C 208486872 113320055 BCM_CMT_1011-3119715 7.74e-02 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048129A>C;NG_008866.1:g.128790A>C;NM_000540.2:c.12283-3624A>C;NM_001042723.1:c.12268-3624A>C 228135962 113320055 pilot_1_YRI_9945645_chr19_43739969 7.74e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048129A>C;NG_008866.1:g.128790A>C;NM_000540.2:c.12283-3624A>C;NM_001042723.1:c.12268-3624A>C 237674363 113320055 pilot_1_CEU_7278992_chr19_43739969 7.74e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048129A>C;NG_008866.1:g.128790A>C;NM_000540.2:c.12283-3624A>C;NM_001042723.1:c.12268-3624A>C 243881146 113320055 pilot_1_CHB+JPT_5766223_chr19_43739969 7.74e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39048129A>C;NG_008866.1:g.128790A>C;NM_000540.2:c.12283-3624A>C;NM_001042723.1:c.12268-3624A>C 283206211 113320055 GMI_AK_SNP_7526632 7.74e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048160T>A;NG_008866.1:g.128821T>A;NM_000540.2:c.12283-3593T>A;NM_001042723.1:c.12268-3593T>A 340454857 143825366 20100804_snps_12098398_chr19_39048160 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 4171553 2960321 AC091486.2_15393 2.08e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 19395266 2960321 CSHL-HuDD-200402.chr19.NT_011109.15_11316381 2.08e-01 2004.02.21 2004.08.05 2001.11.05 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 21512613 2960321 WGSA-200403-chr19.chr19.NT_011109.15_11316381 2.08e-01 2004.03.20 2004.03.20 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 44192608 2960321 hCV2600236 2.08e-01 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 66532450 2960321 SNP_A-4236911 2.08e-01 2006.10.29 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 66809115 2960321 HumanHap300v1.1_rs2960321 2.08e-01 2006.11.09 2006.11.09 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 67285280 2960321 HumanHap550v1.1_rs2960321 2.08e-01 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 67688008 2960321 HumanHap650Yv1.0_rs2960321 2.08e-01 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 69228181 2960321 PGP04497293 2.08e-01 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 70763815 2960321 HumanHap550v3.0__rs2960321 2.08e-01 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 71338092 2960321 HumanHap650Yv3.0_rs2960321 2.08e-01 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 75857749 2960321 ILMN_Human_1M_rs2960321 2.08e-01 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 76354881 2960321 AFFY_6_1M_SNP_A-4236911 2.08e-01 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 79155144 2960321 HumanHap300v2.0_rs2960321 2.08e-01 2007.11.18 2007.11.18 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 84130615 2960321 KHS641902 2.08e-01 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 90970032 2960321 JWB-1168240 2.08e-01 2008.03.01 2008.03.01 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 96305732 2960321 1103691141949 2.08e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 111366154 2960321 CEU.trio.12.15.2008_3616704_chr19_43740003 2.08e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 115121008 2960321 NA19240_2008_12_16_3257666_chr19_43740003 2.08e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 117702721 2960321 NA18507_000043949_NCBI36.1_chr19_43740003 2.08e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 122151131 2960321 HumanCNV370v1_C_rs2960321 2.08e-01 2009.04.15 2009.04.15 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 132762502 2960321 ENSSNP1527980 2.08e-01 2009.05.12 2010.03.07 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 154248459 2960321 Human610_Quadv1_B_rs2960321-128_T_F_1501742299 2.08e-01 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 159425364 2960321 Human660W-Quad_v1_A_rs2960321-128_T_F_1501742299 2.08e-01 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 169709045 2960321 NA19240_36_chr19_43740003 2.08e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 171498088 2960321 HumanCNV370-Quadv3_C_rs2960321-128_T_F_1501742299 2.08e-01 2009.10.01 2009.10.04 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 173365736 2960321 GenomeWideSNP_5_SNP_A-4236911 2.08e-01 2009.10.03 2009.10.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 173541105 2960321 Human1M-Duov3_B_rs2960321-128_T_F_1501742299 2.08e-01 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 203751088 2960321 BUSHMAN-chr19-43740002 2.08e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 208429981 2960321 BCM_CMT_1011-3100859 2.08e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 228135963 2960321 pilot_1_YRI_9945646_chr19_43740003 2.08e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 237674364 2960321 pilot_1_CEU_7278993_chr19_43740003 2.08e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 243881147 2960321 pilot_1_CHB+JPT_5766224_chr19_43740003 2.08e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 283206212 2960321 GMI_AK_SNP_7526633 2.08e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39048163C>A;NG_008866.1:g.128824C>A;NM_000540.2:c.12283-3590C>A;NM_001042723.1:c.12268-3590C>A 292248566 2960321 SNP_1754924_chr19_43740003 2.08e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048216A>G;NG_008866.1:g.128877A>G;NM_000540.2:c.12283-3537A>G;NM_001042723.1:c.12268-3537A>G 465587063 181123277 20101123_snps_11754293_chr19_39048216 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048530G>A;NG_008866.1:g.129191G>A;NM_000540.2:c.12283-3223G>A;NM_001042723.1:c.12268-3223G>A 465587064 185721740 20101123_snps_11754294_chr19_39048530 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 6628797 4802603 NT_011109.13_1203583 2.85e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 19395517 4802603 CSHL-HuDD-200402.chr19.NT_011109.15_11316786 2.85e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 ABI 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 41050109 4802603 hCV2600237 2.85e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 80888204 4802603 Cor18507_SNV_20070510.chr19_43740408 2.85e-01 2007.11.27 2007.11.27 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 96305733 4802603 1103691141950 2.85e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 136267444 4802603 ENSSNP1527981 2.85e-01 2009.05.15 2010.03.07 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 168184124 4802603 NA07022_36_chr19_43740408 2.85e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 169709060 4802603 NA19240_36_chr19_43740408 2.85e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 203751089 4802603 BUSHMAN-chr19-43740407 2.85e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 283206213 4802603 GMI_AK_SNP_7526634 2.85e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 292248567 4802603 SNP_1754925_chr19_43740408 2.85e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048568C>T;NG_008866.1:g.129229C>T;NM_000540.2:c.12283-3185C>T;NM_001042723.1:c.12268-3185C>T 340454859 4802603 20100804_snps_12098400_chr19_39048568 2.85e-01 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048614T>C;NG_008866.1:g.129275T>C;NM_000540.2:c.12283-3139T>C;NM_001042723.1:c.12268-3139T>C 465587065 188180589 20101123_snps_11754295_chr19_39048614 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 4171554 2960322 AC091486.2_15868 2.90e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 6628798 2960322 NT_011109.13_1203653 2.90e-01 2003.02.13 2003.10.10 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 19395567 2960322 CSHL-HuDD-200402.chr19.NT_011109.15_11316856 2.90e-01 2004.02.21 2004.03.04 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 41002971 2960322 hCV26218749 2.90e-01 2005.07.17 2005.07.17 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 79884850 2960322 Cor18507_SNV_20070510.chr19_43740478 2.90e-01 2007.11.24 2007.11.24 2001.11.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 96305734 2960322 1103691141951 2.90e-01 2008.03.26 2008.03.26 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 117702723 2960322 NA18507_000043950_NCBI36.1_chr19_43740478 2.90e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 136267440 2960322 ENSSNP1527982 2.90e-01 2009.05.15 2010.03.07 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 169709088 2960322 NA19240_36_chr19_43740478 2.90e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 203751090 2960322 BUSHMAN-chr19-43740477 2.90e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 208512762 2960322 BCM_CMT_1011-3128800 2.90e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 255669064 2960322 SNP49759_19_43740478 2.90e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 283206214 2960322 GMI_AK_SNP_7526635 2.90e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 292248568 2960322 SNP_1754926_chr19_43740478 2.90e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048638C>A;NG_008866.1:g.129299C>A;NM_000540.2:c.12283-3115C>A;NM_001042723.1:c.12268-3115C>A 465587066 2960322 20101123_snps_11754296_chr19_39048638 2.90e-01 2011.07.20 2011.07.20 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39048647_39048651delATAAA;NG_008866.1:g.129308_129312delATAAA;NM_000540.2:c.12283-3106_12283-3102delATAAA;NM_001042723.1:c.12268-3106_12268-3102delATAAA 328276262 142128495 YRI_chr19_43740486_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39048648T>A;NG_008866.1:g.129309T>A;NM_000540.2:c.12283-3105T>A;NM_001042723.1:c.12268-3105T>A 465587067 186093905 20101123_snps_11754297_chr19_39048648 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048676C>T;NG_008866.1:g.129337C>T;NM_000540.2:c.12283-3077C>T;NM_001042723.1:c.12268-3077C>T 340454860 144447788 20100804_snps_12098401_chr19_39048676 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39048743G>T;NG_008866.1:g.129404G>T;NM_000540.2:c.12283-3010G>T;NM_001042723.1:c.12268-3010G>T 465587068 192199454 20101123_snps_11754298_chr19_39048743 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048811G>A;NG_008866.1:g.129472G>A;NM_000540.2:c.12283-2942G>A;NM_001042723.1:c.12268-2942G>A 465587069 184083003 20101123_snps_11754299_chr19_39048811 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048830T>C;NG_008866.1:g.129491T>C;NM_000540.2:c.12283-2923T>C;NM_001042723.1:c.12268-2923T>C 465587070 186929048 20101123_snps_11754300_chr19_39048830 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048914A>T;NG_008866.1:g.129575A>T;NM_000540.2:c.12283-2839A>T;NM_001042723.1:c.12268-2839A>T 465587071 190530814 20101123_snps_11754301_chr19_39048914 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39048991G>A;NG_008866.1:g.129652G>A;NM_000540.2:c.12283-2762G>A;NM_001042723.1:c.12268-2762G>A 243881149 78464864 pilot_1_CHB+JPT_5766226_chr19_43740831 5.50e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39049375C>T;NG_008866.1:g.130036C>T;NM_000540.2:c.12283-2378C>T;NM_001042723.1:c.12268-2378C>T 465587072 182371644 20101123_snps_11754302_chr19_39049375 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.39049439T>A;NG_008866.1:g.130100T>A;NM_000540.2:c.12283-2314T>A;NM_001042723.1:c.12268-2314T>A 117702725 75424638 NA18507_000043951_NCBI36.1_chr19_43741279 1.92e-02 2009.01.20 2009.01.20 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39049439T>A;NG_008866.1:g.130100T>A;NM_000540.2:c.12283-2314T>A;NM_001042723.1:c.12268-2314T>A 228135965 75424638 pilot_1_YRI_9945648_chr19_43741279 1.92e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39049446_39049447insT;NG_008866.1:g.130107_130108insT;NM_000540.2:c.12283-2307_12283-2306insT;NM_001042723.1:c.12268-2307_12268-2306insT 499576450 201481299 20110316_indels_chr19_39049446_39049447 6.27e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049448A>C;NG_008866.1:g.130109A>C;NM_000540.2:c.12283-2305A>C;NM_001042723.1:c.12268-2305A>C 228135966 115823321 pilot_1_YRI_9945649_chr19_43741288 3.89e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049448A>C;NG_008866.1:g.130109A>C;NM_000540.2:c.12283-2305A>C;NM_001042723.1:c.12268-2305A>C 243881150 115823321 pilot_1_CHB+JPT_5766227_chr19_43741288 3.89e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39049448A>C;NG_008866.1:g.130109A>C;NM_000540.2:c.12283-2305A>C;NM_001042723.1:c.12268-2305A>C 283206215 115823321 GMI_AK_SNP_7526636 3.89e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049449G>T;NG_008866.1:g.130110G>T;NM_000540.2:c.12283-2304G>T;NM_001042723.1:c.12268-2304G>T 465587073 187085759 20101123_snps_11754303_chr19_39049449 6.23e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39049451C>A;NG_008866.1:g.130112C>A;NM_000540.2:c.12283-2302C>A;NM_001042723.1:c.12268-2302C>A 465587074 189569683 20101123_snps_11754304_chr19_39049451 6.23e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39049455_39049456delGT;NG_008866.1:g.130116_130117delGT;NM_000540.2:c.12283-2298_12283-2297delGT;NM_001042723.1:c.12268-2298_12268-2297delGT 499576454 199540057 20110316_indels_chr19_39049454_39049455 6.23e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39049525G>A;NG_008866.1:g.130186G>A;NM_000540.2:c.12283-2228G>A;NM_001042723.1:c.12268-2228G>A 283206216 144555955 GMI_AK_SNP_7526637 3.48e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049525G>A;NG_008866.1:g.130186G>A;NM_000540.2:c.12283-2228G>A;NM_001042723.1:c.12268-2228G>A 340454861 144555955 20100804_snps_12098402_chr19_39049525 3.48e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049596G>A;NG_008866.1:g.130257G>A;NM_000540.2:c.12283-2157G>A;NM_001042723.1:c.12268-2157G>A 340454862 148447410 20100804_snps_12098403_chr19_39049596 3.39e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39049612C>T;NG_008866.1:g.130273C>T;NM_000540.2:c.12283-2141C>T;NM_001042723.1:c.12268-2141C>T 340454863 142692569 20100804_snps_12098404_chr19_39049612 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39049661G>A;NG_008866.1:g.130322G>A;NM_000540.2:c.12283-2092G>A;NM_001042723.1:c.12268-2092G>A 283206217 150998933 GMI_AK_SNP_7526638 3.57e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049661G>A;NG_008866.1:g.130322G>A;NM_000540.2:c.12283-2092G>A;NM_001042723.1:c.12268-2092G>A 340454864 150998933 20100804_snps_12098405_chr19_39049661 3.57e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 21517956 12974674 WGSA-200403-chr19.chr19.NT_011109.15_11318066 2.81e-01 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 40989232 12974674 hCV30930837 2.81e-01 2005.07.17 2005.07.17 2004.04.05 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 90970034 12974674 JWB-1168241 2.81e-01 2008.03.01 2008.03.01 2004.04.05 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 96305735 12974674 1103691141955 2.81e-01 2008.03.26 2008.03.26 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 111366157 12974674 CEU.trio.12.15.2008_3616705_chr19_43741688 2.81e-01 2008.12.17 2008.12.17 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 115121022 12974674 NA19240_2008_12_16_3257668_chr19_43741688 2.81e-01 2008.12.19 2008.12.19 2004.04.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 117702727 12974674 NA18507_000043952_NCBI36.1_chr19_43741688 2.81e-01 2009.01.20 2009.01.20 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 168184138 12974674 NA07022_36_chr19_43741688 2.81e-01 2009.09.30 2009.09.30 2004.04.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 169709104 12974674 NA19240_36_chr19_43741688 2.81e-01 2009.10.01 2009.10.01 2004.04.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 203751091 12974674 BUSHMAN-chr19-43741687 2.81e-01 2010.03.09 2010.03.09 2004.04.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 208451659 12974674 BCM_CMT_1011-3108003 2.81e-01 2010.03.19 2010.03.19 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 228135967 12974674 pilot_1_YRI_9945650_chr19_43741688 2.81e-01 2010.04.22 2010.04.22 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 237674366 12974674 pilot_1_CEU_7278995_chr19_43741688 2.81e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 243881151 12974674 pilot_1_CHB+JPT_5766228_chr19_43741688 2.81e-01 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 BL 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 255669069 12974674 SNP49760_19_43741688 2.81e-01 2010.08.20 2010.08.20 2004.04.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39049848G>C;NG_008866.1:g.130509G>C;NM_000540.2:c.12283-1905G>C;NM_001042723.1:c.12268-1905G>C 283206218 12974674 GMI_AK_SNP_7526639 2.81e-01 2010.12.16 2010.12.16 2004.04.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39049868C>T;NG_008866.1:g.130529C>T;NM_000540.2:c.12283-1885C>T;NM_001042723.1:c.12268-1885C>T 137670625 78067676 ENSSNP11444413 2009.05.16 2009.05.16 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39049868C>T;NG_008866.1:g.130529C>T;NM_000540.2:c.12283-1885C>T;NM_001042723.1:c.12268-1885C>T 482719587 78067676 HumanOmni2.5-4v1_D_kgp22772418-0_B_F_1860517670 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39049868C>T;NG_008866.1:g.130529C>T;NM_000540.2:c.12283-1885C>T;NM_001042723.1:c.12268-1885C>T 483826082 78067676 HumanOmni2.5-4v1_B_SNP19-43741708-0_B_F_1644414404 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 ABI 6261 NC_000019.9:g.39049869delT;NG_008866.1:g.130530delT;NM_000540.2:c.12283-1884delT;NM_001042723.1:c.12268-1884delT 40966541 34239565 hCV32823645 2005.07.17 2005.07.17 2006.03.13 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39049869delT;NG_008866.1:g.130530delT;NM_000540.2:c.12283-1884delT;NM_001042723.1:c.12268-1884delT 96281051 34239565 1103691141956 2008.03.26 2008.03.26 2006.03.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39049870T>C;NG_008866.1:g.130531T>C;NM_000540.2:c.12283-1883T>C;NM_001042723.1:c.12268-1883T>C 137670628 75474865 ENSSNP11444414 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39049892G>A;NG_008866.1:g.130553G>A;NM_000540.2:c.12283-1861G>A;NM_001042723.1:c.12268-1861G>A 137670630 74332826 ENSSNP11444415 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39049905G>A;NG_008866.1:g.130566G>A;NM_000540.2:c.12283-1848G>A;NM_001042723.1:c.12268-1848G>A 465587075 182761391 20101123_snps_11754305_chr19_39049905 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39049940C>T;NG_008866.1:g.130601C>T;NM_000540.2:c.12283-1813C>T;NM_001042723.1:c.12268-1813C>T 465587076 187782499 20101123_snps_11754306_chr19_39049940 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050049T>A;NG_008866.1:g.130710T>A;NM_000540.2:c.12283-1704T>A;NM_001042723.1:c.12268-1704T>A 465587077 193247219 20101123_snps_11754307_chr19_39050049 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050126G>A;NG_008866.1:g.130787G>A;NM_000540.2:c.12283-1627G>A;NM_001042723.1:c.12268-1627G>A 465587078 185597992 20101123_snps_11754308_chr19_39050126 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050135A>G;NG_008866.1:g.130796A>G;NM_000540.2:c.12283-1618A>G;NM_001042723.1:c.12268-1618A>G 340454865 140839957 20100804_snps_12098406_chr19_39050135 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39050265G>C;NG_008866.1:g.130926G>C;NM_000540.2:c.12283-1488G>C;NM_001042723.1:c.12268-1488G>C 340454866 143143964 20100804_snps_12098407_chr19_39050265 1.92e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39050373A>G;NG_008866.1:g.131034A>G;NM_000540.2:c.12283-1380A>G;NM_001042723.1:c.12268-1380A>G 203751092 112130553 BUSHMAN-chr19-43742212 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39050383G>A;NG_008866.1:g.131044G>A;NM_000540.2:c.12283-1370G>A;NM_001042723.1:c.12268-1370G>A 465587079 188484821 20101123_snps_11754309_chr19_39050383 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050443A>G;NG_008866.1:g.131104A>G;NM_000540.2:c.12283-1310A>G;NM_001042723.1:c.12268-1310A>G 340454867 146705832 20100804_snps_12098408_chr19_39050443 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39050451G>A;NG_008866.1:g.131112G>A;NM_000540.2:c.12283-1302G>A;NM_001042723.1:c.12268-1302G>A 465587080 192252698 20101123_snps_11754310_chr19_39050451 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050478C>T;NG_008866.1:g.131139C>T;NM_000540.2:c.12283-1275C>T;NM_001042723.1:c.12268-1275C>T 228135968 115207918 pilot_1_YRI_9945651_chr19_43742318 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 18803432 12327672 SC-CHR9-12_NA17119-200402.chr19.NT_011109.15_11318697 4.62e-02 2004.02.20 2008.03.31 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 66321358 12327672 SNP_A-1897900 4.62e-02 2006.10.29 2008.03.31 2004.02.28 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 69228182 12327672 PGP06194879 4.62e-02 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 76010123 12327672 AFFY_6_1M_SNP_A-1897900 4.62e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 82971166 12327672 KHS365750 4.62e-02 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 168184148 12327672 NA07022_36_chr19_43742319 4.62e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 AFFY 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 170368309 12327672 GenomeWideSNP_5_SNP_A-1897900 4.62e-02 2009.10.01 2009.10.02 2004.02.28 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 203751093 12327672 BUSHMAN-chr19-43742318 4.62e-02 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 228135969 12327672 pilot_1_YRI_9945652_chr19_43742319 4.62e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 237674367 12327672 pilot_1_CEU_7278996_chr19_43742319 4.62e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.39050479G>C;NG_008866.1:g.131140G>C;NM_000540.2:c.12283-1274G>C;NM_001042723.1:c.12268-1274G>C 255669074 12327672 SNP49761_19_43742319 4.62e-02 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39050563C>T;NG_008866.1:g.131224C>T;NM_000540.2:c.12283-1190C>T;NM_001042723.1:c.12268-1190C>T 465587081 184038613 20101123_snps_11754311_chr19_39050563 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 6261 NC_000019.9:g.39050565_39050566insT;NG_008866.1:g.131226_131227insT;NM_000540.2:c.12283-1188_12283-1187insT;NM_001042723.1:c.12268-1188_12268-1187insT 100248441 71885877 INDEL_GP36_2008a_2847633_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39050565T>C;NG_008866.1:g.131226T>C;NM_000540.2:c.12283-1188T>C;NM_001042723.1:c.12268-1188T>C 137670634 79450568 ENSSNP11444417 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39050566T>C;NG_008866.1:g.131227T>C;NM_000540.2:c.12283-1187T>C;NM_001042723.1:c.12268-1187T>C 137670636 78260866 ENSSNP11444418 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39050578T>G;NG_008866.1:g.131239T>G;NM_000540.2:c.12283-1175T>G;NM_001042723.1:c.12268-1175T>G 137670639 77645547 ENSSNP11444419 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39050620C>T;NG_008866.1:g.131281C>T;NM_000540.2:c.12283-1133C>T;NM_001042723.1:c.12268-1133C>T 171754332 74666002 NA20431_36_chr19_43742460 1.37e-02 2009.10.01 2009.10.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39050620C>T;NG_008866.1:g.131281C>T;NM_000540.2:c.12283-1133C>T;NM_001042723.1:c.12268-1133C>T 237674368 74666002 pilot_1_CEU_7278997_chr19_43742460 1.37e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39050781A>T;NG_008866.1:g.131442A>T;NM_000540.2:c.12283-972A>T;NM_001042723.1:c.12268-972A>T 465587082 188617311 20101123_snps_11754312_chr19_39050781 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39050832C>T;NG_008866.1:g.131493C>T;NM_000540.2:c.12283-921C>T;NM_001042723.1:c.12268-921C>T 340454868 140298785 20100804_snps_12098409_chr19_39050832 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39051011A>T;NG_008866.1:g.131672A>T;NM_000540.2:c.12283-742A>T;NM_001042723.1:c.12268-742A>T 340454869 145320874 20100804_snps_12098410_chr19_39051011 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39051049A>G;NG_008866.1:g.131710A>G;NM_000540.2:c.12283-704A>G;NM_001042723.1:c.12268-704A>G 168184154 74891592 NA07022_36_chr19_43742889 4.62e-02 2009.09.30 2009.09.30 2009.12.01 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39051049A>G;NG_008866.1:g.131710A>G;NM_000540.2:c.12283-704A>G;NM_001042723.1:c.12268-704A>G 203751094 74891592 BUSHMAN-chr19-43742888 4.62e-02 2010.03.09 2010.03.09 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39051049A>G;NG_008866.1:g.131710A>G;NM_000540.2:c.12283-704A>G;NM_001042723.1:c.12268-704A>G 228135970 74891592 pilot_1_YRI_9945653_chr19_43742889 4.62e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39051049A>G;NG_008866.1:g.131710A>G;NM_000540.2:c.12283-704A>G;NM_001042723.1:c.12268-704A>G 237674369 74891592 pilot_1_CEU_7278998_chr19_43742889 4.62e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39051095G>A;NG_008866.1:g.131756G>A;NM_000540.2:c.12283-658G>A;NM_001042723.1:c.12268-658G>A 90970036 62120348 JWB-2965868 2.29e-02 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39051095G>A;NG_008866.1:g.131756G>A;NM_000540.2:c.12283-658G>A;NM_001042723.1:c.12268-658G>A 96305736 62120348 1103691141957 2.29e-02 2008.03.26 2008.03.26 2008.03.24 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39051095G>A;NG_008866.1:g.131756G>A;NM_000540.2:c.12283-658G>A;NM_001042723.1:c.12268-658G>A 137670643 62120348 ENSSNP11444420 2.29e-02 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 PJP 6261 NC_000019.9:g.39051095G>A;NG_008866.1:g.131756G>A;NM_000540.2:c.12283-658G>A;NM_001042723.1:c.12268-658G>A 292248569 62120348 SNP_1754927_chr19_43742935 2.29e-02 2011.01.21 2011.01.21 2008.03.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39051095G>A;NG_008866.1:g.131756G>A;NM_000540.2:c.12283-658G>A;NM_001042723.1:c.12268-658G>A 340454870 62120348 20100804_snps_12098411_chr19_39051095 2.29e-02 2011.03.22 2011.03.22 2008.03.24 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39051505T>G;NG_008866.1:g.132166T>G;NM_000540.2:c.12283-248T>G;NM_001042723.1:c.12268-248T>G 169709119 113203778 NA19240_36_chr19_43743345 2.38e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051505T>G;NG_008866.1:g.132166T>G;NM_000540.2:c.12283-248T>G;NM_001042723.1:c.12268-248T>G 211962667 113203778 YRI.trio.3.2010_1440270_chr19_43743345 2.38e-02 2010.03.31 2010.03.31 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051505T>G;NG_008866.1:g.132166T>G;NM_000540.2:c.12283-248T>G;NM_001042723.1:c.12268-248T>G 228135971 113203778 pilot_1_YRI_9945654_chr19_43743345 2.38e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051531C>T;NG_008866.1:g.132192C>T;NM_000540.2:c.12283-222C>T;NM_001042723.1:c.12268-222C>T 340454872 143841105 20100804_snps_12098413_chr19_39051531 9.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39051613T>C;NG_008866.1:g.132274T>C;NM_000540.2:c.12283-140T>C;NM_001042723.1:c.12268-140T>C 465587083 181369400 20101123_snps_11754313_chr19_39051613 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39051655T>C;NG_008866.1:g.132316T>C;NM_000540.2:c.12283-98T>C;NM_001042723.1:c.12268-98T>C 168184165 113916872 NA07022_36_chr19_43743495 3.85e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39051655T>C;NG_008866.1:g.132316T>C;NM_000540.2:c.12283-98T>C;NM_001042723.1:c.12268-98T>C 255669079 113916872 SNP49762_19_43743495 3.85e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051655T>C;NG_008866.1:g.132316T>C;NM_000540.2:c.12283-98T>C;NM_001042723.1:c.12268-98T>C 340454873 113916872 20100804_snps_12098414_chr19_39051655 3.85e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051697_39051700delAGAG;NG_008866.1:g.132358_132361delAGAG;NM_000540.2:c.12283-56_12283-53delAGAG;NM_001042723.1:c.12268-56_12268-53delAGAG 499576458 200718174 20110316_indels_chr19_39051696_39051699 1.69e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051746C>T;NG_008866.1:g.132407C>T;NM_000540.2:c.12283-7C>T;NM_001042723.1:c.12268-7C>T 340454874 143861818 20100804_snps_12098415_chr19_39051746 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39051746C>T;NG_008866.1:g.132407C>T;NM_000540.2:c.12283-7C>T;NM_001042723.1:c.12268-7C>T 491158139 143861818 20110521_exome_665937_chr19_39051746 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39051746C>T;NG_008866.1:g.132407C>T;NM_000540.2:c.12283-7C>T;NM_001042723.1:c.12268-7C>T 491766282 143861818 SNV-chr19-43743586 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12335C>T NC_000019.9:g.39051805C>T;NG_008866.1:g.132466C>T;NM_000540.2:c.12335C>T;NM_001042723.1:c.12320C>T;NP_000531.2:p.Ser4112Leu;NP_001036188.1:p.Ser4107Leu 475871681 193922847 RYR1_00289 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 YSAMUELS 6261 NC_000019.8:g.43743645C>T NC_000019.9:g.39051805C>T;NG_008866.1:g.132466C>T;NM_000540.2:c.12335C>T;NM_001042723.1:c.12320C>T;NP_000531.2:p.Ser4112Leu;NP_001036188.1:p.Ser4107Leu 537711544 193922847 NC_000019.8:g.43743645C>T germline untested 2012.07.17 2012.07.17 2011.11.25 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39051815A>C;NG_008866.1:g.132476A>C;NM_000540.2:c.12345A>C;NM_001042723.1:c.12330A>C;NP_000531.2:p.Glu4115Asp;NP_001036188.1:p.Glu4110Asp 342496658 148923077 ESP2500-chr19-39051815 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.12355A>T NC_000019.9:g.39051825A>T;NG_008866.1:g.132486A>T;NM_000540.2:c.12355A>T;NM_001042723.1:c.12340A>T;NP_000531.2:p.Asn4119Tyr;NP_001036188.1:p.Asn4114Tyr 475871682 193922848 RYR1_00198 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39051868A>G;NG_008866.1:g.132529A>G;NM_000540.2:c.12398A>G;NM_001042723.1:c.12383A>G;NP_000531.2:p.Glu4133Gly;NP_001036188.1:p.Glu4128Gly 489164672 201321695 20110521_exome_255722_chr19_39051868 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12406C>A NC_000019.9:g.39051876C>A;NG_008866.1:g.132537C>A;NM_000540.2:c.12406C>A;NM_001042723.1:c.12391C>A;NP_000531.2:p.Arg4136Ser;NP_001036188.1:p.Arg4131Ser 475871683 193922849 RYR1_00174 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39051879G>A;NG_008866.1:g.132540G>A;NM_000540.2:c.12409G>A;NM_001042723.1:c.12394G>A;NP_000531.2:p.Asp4137Asn;NP_001036188.1:p.Asp4132Asn 489164674 200312759 20110521_exome_255723_chr19_39051879 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12413T>C NC_000019.9:g.39051883T>C;NG_008866.1:g.132544T>C;NM_000540.2:c.12413T>C;NM_001042723.1:c.12398T>C;NP_000531.2:p.Ile4138Thr;NP_001036188.1:p.Ile4133Thr 475871684 193922850 RYR1_00152 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 BUSHMAN 6261 NC_000019.9:g.39051899G>A;NG_008866.1:g.132560G>A;NM_000540.2:c.12429G>A;NM_001042723.1:c.12414G>A;NP_000531.2:p.Ala4143=;NP_001036188.1:p.Ala4138= 203751095 112288982 BUSHMAN-chr19-43743738 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.39051919C>G;NG_008866.1:g.132580C>G;NM_000540.2:c.12449C>G;NM_001042723.1:c.12434C>G;NP_000531.2:p.Ser4150Trp;NP_001036188.1:p.Ser4145Trp 342496659 143843083 ESP2500-chr19-39051919 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39052023G>A;NG_008866.1:g.132684G>A;NM_000540.2:c.12553G>A;NM_001042723.1:c.12538G>A;NP_000531.2:p.Ala4185Thr;NP_001036188.1:p.Ala4180Thr 342496660 151119428 ESP2500-chr19-39052023 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052023G>A;NG_008866.1:g.132684G>A;NM_000540.2:c.12553G>A;NM_001042723.1:c.12538G>A;NP_000531.2:p.Ala4185Thr;NP_001036188.1:p.Ala4180Thr 465587084 151119428 20101123_snps_11754314_chr19_39052023 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052023G>A;NG_008866.1:g.132684G>A;NM_000540.2:c.12553G>A;NM_001042723.1:c.12538G>A;NP_000531.2:p.Ala4185Thr;NP_001036188.1:p.Ala4180Thr 491158140 151119428 20110521_exome_665938_chr19_39052023 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39052023G>A;NG_008866.1:g.132684G>A;NM_000540.2:c.12553G>A;NM_001042723.1:c.12538G>A;NP_000531.2:p.Ala4185Thr;NP_001036188.1:p.Ala4180Thr 491546512 151119428 nonsyn_262738_chr_19_39052023 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39052023G>A;NG_008866.1:g.132684G>A;NM_000540.2:c.12553G>A;NM_001042723.1:c.12538G>A;NP_000531.2:p.Ala4185Thr;NP_001036188.1:p.Ala4180Thr 491766283 151119428 SNV-chr19-43743863 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CORNELL 6261 NC_000019.9:g.39052058C>T;NG_008866.1:g.132719C>T;NM_000540.2:c.12588C>T;NM_001042723.1:c.12573C>T;NP_000531.2:p.Ile4196=;NP_001036188.1:p.Ile4191= 86262660 61739895 hCV25953920 4.10e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052058C>T;NG_008866.1:g.132719C>T;NM_000540.2:c.12588C>T;NM_001042723.1:c.12573C>T;NP_000531.2:p.Ile4196=;NP_001036188.1:p.Ile4191= 340454875 61739895 20100804_snps_12098416_chr19_39052058 4.10e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39052058C>T;NG_008866.1:g.132719C>T;NM_000540.2:c.12588C>T;NM_001042723.1:c.12573C>T;NP_000531.2:p.Ile4196=;NP_001036188.1:p.Ile4191= 342496661 61739895 ESP2500-chr19-39052058 4.10e-03 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052058C>T;NG_008866.1:g.132719C>T;NM_000540.2:c.12588C>T;NM_001042723.1:c.12573C>T;NP_000531.2:p.Ile4196=;NP_001036188.1:p.Ile4191= 491158141 61739895 20110521_exome_665939_chr19_39052058 4.10e-03 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39052067C>T;NG_008866.1:g.132728C>T;NM_000540.2:c.12597C>T;NM_001042723.1:c.12582C>T;NP_000531.2:p.Thr4199=;NP_001036188.1:p.Thr4194= 342496662 145121064 ESP2500-chr19-39052067 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39052069A>T;NG_008866.1:g.132730A>T;NM_000540.2:c.12599A>T;NM_001042723.1:c.12584A>T;NP_000531.2:p.Asn4200Ile;NP_001036188.1:p.Asn4195Ile 489164676 199660276 20110521_exome_255724_chr19_39052069 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 155887922 75797287 GMI_SNP_103880357 5.40e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 243881153 75797287 pilot_1_CHB+JPT_5766230_chr19_43743948 5.40e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 283206219 75797287 GMI_AK_SNP_7526640 5.40e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 482346486 75797287 HumanOmni2.5-4v1_D_kgp21500061-0_B_F_1844352401 5.40e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 483826084 75797287 HumanOmni2.5-4v1_B_SNP19-43743948-0_B_F_1644482549 5.40e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052108C>T;NG_008866.1:g.132769C>T;NM_000540.2:c.12624+14C>T;NM_001042723.1:c.12609+14C>T 491158142 75797287 20110521_exome_665940_chr19_39052108 5.40e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052119G>A;NG_008866.1:g.132780G>A;NM_000540.2:c.12624+25G>A;NM_001042723.1:c.12609+25G>A 465587085 189334423 20101123_snps_11754315_chr19_39052119 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39052155C>G;NG_008866.1:g.132816C>G;NM_000540.2:c.12624+61C>G;NM_001042723.1:c.12609+61C>G 340454876 138998721 20100804_snps_12098417_chr19_39052155 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39052188_39052189insA;NG_008866.1:g.132849_132850insA;NM_000540.2:c.12624+94_12624+95insA;NM_001042723.1:c.12609+94_12609+95insA 41051842 35130127 hCV32823646 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39052188C>T;NG_008866.1:g.132849C>T;NM_000540.2:c.12624+94C>T;NM_001042723.1:c.12609+94C>T 340454877 143132917 20100804_snps_12098418_chr19_39052188 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39052286G>A;NG_008866.1:g.132947G>A;NM_000540.2:c.12624+192G>A;NM_001042723.1:c.12609+192G>A 340454878 150838101 20100804_snps_12098419_chr19_39052286 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.39052512C>T;NG_008866.1:g.133173C>T;NM_000540.2:c.12624+418C>T;NM_001042723.1:c.12609+418C>T 4973198 3786831 IMS-JST143582 4.60e-03 2002.08.12 2006.10.25 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052512C>T;NG_008866.1:g.133173C>T;NM_000540.2:c.12624+418C>T;NM_001042723.1:c.12609+418C>T 340454879 3786831 20100804_snps_12098420_chr19_39052512 4.60e-03 2011.03.22 2011.03.22 2002.08.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052637C>G;NG_008866.1:g.133298C>G;NM_000540.2:c.12624+543C>G;NM_001042723.1:c.12609+543C>G 465587086 182223176 20101123_snps_11754316_chr19_39052637 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39052718T>G;NG_008866.1:g.133379T>G;NM_000540.2:c.12624+624T>G;NM_001042723.1:c.12609+624T>G 283206220 199958914 GMI_AK_SNP_7526641 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39052769C>T;NG_008866.1:g.133430C>T;NM_000540.2:c.12624+675C>T;NM_001042723.1:c.12609+675C>T 243881154 118109792 pilot_1_CHB+JPT_5766231_chr19_43744609 3.07e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39052769C>T;NG_008866.1:g.133430C>T;NM_000540.2:c.12624+675C>T;NM_001042723.1:c.12609+675C>T 283206221 118109792 GMI_AK_SNP_7526642 3.07e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052781G>A;NG_008866.1:g.133442G>A;NM_000540.2:c.12624+687G>A;NM_001042723.1:c.12609+687G>A 465587087 187188386 20101123_snps_11754317_chr19_39052781 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39052824C>T;NG_008866.1:g.133485C>T;NM_000540.2:c.12624+730C>T;NM_001042723.1:c.12609+730C>T 340454880 149507211 20100804_snps_12098421_chr19_39052824 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39052922T>C;NG_008866.1:g.133583T>C;NM_000540.2:c.12624+828T>C;NM_001042723.1:c.12609+828T>C 283206222 190380361 GMI_AK_SNP_7526643 2.84e-02 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052922T>C;NG_008866.1:g.133583T>C;NM_000540.2:c.12624+828T>C;NM_001042723.1:c.12609+828T>C 465587088 190380361 20101123_snps_11754318_chr19_39052922 2.84e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39052923delC;NG_008866.1:g.133584delC;NM_000540.2:c.12624+829delC;NM_001042723.1:c.12609+829delC 328276263 151140935 YRI_chr19_43744762_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39053040C>T;NG_008866.1:g.133701C>T;NM_000540.2:c.12624+946C>T;NM_001042723.1:c.12609+946C>T 243881156 79428537 pilot_1_CHB+JPT_5766233_chr19_43744880 3.11e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39053040C>T;NG_008866.1:g.133701C>T;NM_000540.2:c.12624+946C>T;NM_001042723.1:c.12609+946C>T 283206223 79428537 GMI_AK_SNP_7526644 3.11e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053225C>T;NG_008866.1:g.133886C>T;NM_000540.2:c.12624+1131C>T;NM_001042723.1:c.12609+1131C>T 340454881 144175377 20100804_snps_12098422_chr19_39053225 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 6261 NC_000019.9:g.39053266G>A;NG_008866.1:g.133927G>A;NM_000540.2:c.12624+1172G>A;NM_001042723.1:c.12609+1172G>A 4973199 3786832 IMS-JST143583 2.93e-02 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 BGI 6261 NC_000019.9:g.39053266G>A;NG_008866.1:g.133927G>A;NM_000540.2:c.12624+1172G>A;NM_001042723.1:c.12609+1172G>A 103437780 3786832 BGI_rs3786832 2.93e-02 2008.06.06 2009.06.17 2002.08.28 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39053266G>A;NG_008866.1:g.133927G>A;NM_000540.2:c.12624+1172G>A;NM_001042723.1:c.12609+1172G>A 243881157 3786832 pilot_1_CHB+JPT_5766234_chr19_43745106 2.93e-02 2010.05.01 2010.05.01 2002.08.28 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 4102783 2907616 AC005933.1_8415 3.01e-01 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 4973200 2907616 IMS-JST143584 3.01e-01 2002.08.12 2003.10.10 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 44185462 2907616 hCV15856950 3.01e-01 2005.07.18 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 65791832 2907616 Human1-rs2907616 3.01e-01 2006.10.10 2006.10.10 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 74877310 2907616 ILMN_Human_1M_rs2907616 3.01e-01 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 77732923 2907616 Cor12156_SNV_20070510.chr19_43745122 3.01e-01 2007.10.14 2007.10.14 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 80904785 2907616 Cor18507_SNV_20070510.chr19_43745122 3.01e-01 2007.11.27 2007.11.27 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 106055021 2907616 BGI_rs2907616 3.01e-01 2008.09.13 2009.06.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 111366165 2907616 CEU.trio.12.15.2008_3616706_chr19_43745122 3.01e-01 2008.12.17 2008.12.17 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 115121025 2907616 NA19240_2008_12_16_3257669_chr19_43745122 3.01e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 117702729 2907616 NA18507_000043953_NCBI36.1_chr19_43745122 3.01e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 119449997 2907616 KHS1612244 3.01e-01 2009.02.04 2009.02.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 160597947 2907616 HumanOmni1-Quad_v1-0_B_rs2907616-128_B_F_1513899590 3.01e-01 2009.08.06 2009.10.03 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 168184177 2907616 NA07022_36_chr19_43745122 3.01e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 169709134 2907616 NA19240_36_chr19_43745122 3.01e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 173530715 2907616 Human1M-Duov3_B_rs2907616-128_B_F_1513899590 3.01e-01 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 203751096 2907616 BUSHMAN-chr19-43745121 3.01e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 208447308 2907616 BCM_CMT_1011-3106569 3.01e-01 2010.03.19 2010.03.19 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 228135972 2907616 pilot_1_YRI_9945655_chr19_43745122 3.01e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 237674370 2907616 pilot_1_CEU_7278999_chr19_43745122 3.01e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 243881158 2907616 pilot_1_CHB+JPT_5766235_chr19_43745122 3.01e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 283206224 2907616 GMI_AK_SNP_7526645 3.01e-01 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 292248570 2907616 SNP_1754928_chr19_43745122 3.01e-01 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 480714340 2907616 HumanOmni2.5-4v1_B_rs2907616-128_B_F_1513899590 3.01e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 480730041 2907616 HumanOmniExpress-12v1_C_rs2907616-131_B_F_1857368017 3.01e-01 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 481606221 2907616 HumanOmni1-Quad_v1-0_C_rs2907616-131_B_F_1865207259 3.01e-01 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053282C>T;NG_008866.1:g.133943C>T;NM_000540.2:c.12624+1188C>T;NM_001042723.1:c.12609+1188C>T 485151944 2907616 HumanOmni2.5-4v1_D_rs2907616-131_B_F_1857368017 3.01e-01 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053437G>A;NG_008866.1:g.134098G>A;NM_000540.2:c.12624+1343G>A;NM_001042723.1:c.12609+1343G>A 465587089 181585093 20101123_snps_11754319_chr19_39053437 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39053447A>G;NG_008866.1:g.134108A>G;NM_000540.2:c.12624+1353A>G;NM_001042723.1:c.12609+1353A>G 465587090 185987994 20101123_snps_11754320_chr19_39053447 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39053469G>A;NG_008866.1:g.134130G>A;NM_000540.2:c.12624+1375G>A;NM_001042723.1:c.12609+1375G>A 340454882 139964548 20100804_snps_12098423_chr19_39053469 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39053474G>C;NG_008866.1:g.134135G>C;NM_000540.2:c.12624+1380G>C;NM_001042723.1:c.12609+1380G>C 228135973 78775617 pilot_1_YRI_9945656_chr19_43745314 1.40e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39053491T>C;NG_008866.1:g.134152T>C;NM_000540.2:c.12624+1397T>C;NM_001042723.1:c.12609+1397T>C 340454883 143449840 20100804_snps_12098424_chr19_39053491 1.47e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39053526C>T;NG_008866.1:g.134187C>T;NM_000540.2:c.12624+1432C>T;NM_001042723.1:c.12609+1432C>T 4102784 2907617 AC005933.1_8659 1.24e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053526C>T;NG_008866.1:g.134187C>T;NM_000540.2:c.12624+1432C>T;NM_001042723.1:c.12609+1432C>T 115121035 2907617 NA19240_2008_12_16_3257670_chr19_43745366 1.24e-02 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053526C>T;NG_008866.1:g.134187C>T;NM_000540.2:c.12624+1432C>T;NM_001042723.1:c.12609+1432C>T 169709148 2907617 NA19240_36_chr19_43745366 1.24e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053526C>T;NG_008866.1:g.134187C>T;NM_000540.2:c.12624+1432C>T;NM_001042723.1:c.12609+1432C>T 228135974 2907617 pilot_1_YRI_9945657_chr19_43745366 1.24e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053527G>A;NG_008866.1:g.134188G>A;NM_000540.2:c.12624+1433G>A;NM_001042723.1:c.12609+1433G>A 465587091 190011836 20101123_snps_11754321_chr19_39053527 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39053562delC;NG_008866.1:g.134223delC;NM_000540.2:c.12624+1468delC;NM_001042723.1:c.12609+1468delC 40976874 34108715 hCV32823647 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39053618T>C;NG_008866.1:g.134279T>C;NM_000540.2:c.12624+1524T>C;NM_001042723.1:c.12609+1524T>C 4102785 2907618 AC005933.1_8751 1.83e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053618T>C;NG_008866.1:g.134279T>C;NM_000540.2:c.12624+1524T>C;NM_001042723.1:c.12609+1524T>C 115121041 2907618 NA19240_2008_12_16_3257671_chr19_43745458 1.83e-02 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053618T>C;NG_008866.1:g.134279T>C;NM_000540.2:c.12624+1524T>C;NM_001042723.1:c.12609+1524T>C 169709163 2907618 NA19240_36_chr19_43745458 1.83e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053618T>C;NG_008866.1:g.134279T>C;NM_000540.2:c.12624+1524T>C;NM_001042723.1:c.12609+1524T>C 228135975 2907618 pilot_1_YRI_9945658_chr19_43745458 1.83e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053675C>T;NG_008866.1:g.134336C>T;NM_000540.2:c.12624+1581C>T;NM_001042723.1:c.12609+1581C>T 465587092 183199858 20101123_snps_11754322_chr19_39053675 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 4171572 2960339 AC091486.2_61726 4.29e-01 germline untested 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 16798965 2960339 CSHL-HuAA-200402.chr19.NT_011109.15_11321909 4.29e-01 germline untested 2004.02.18 2004.03.04 2001.11.05 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 20067518 2960339 CSHL-HuFF-200402.chr19.NT_011109.15_11321909 4.29e-01 germline untested 2004.02.22 2004.03.04 2001.11.05 2012.11.28 137 ABI 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 44168771 2960339 hCV488523 4.29e-01 germline untested 2005.07.18 2006.11.03 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 66584102 2960339 HumanHap300v1.1_rs2960339 4.29e-01 germline untested 2006.11.09 2006.11.09 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 67285283 2960339 HumanHap550v1.1_rs2960339 4.29e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 67688011 2960339 HumanHap650Yv1.0_rs2960339 4.29e-01 unknown untested 2006.11.14 2006.11.14 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 69228183 2960339 PGP09654518 4.29e-01 germline untested 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 70763818 2960339 HumanHap550v3.0__rs2960339 4.29e-01 germline untested 2007.04.20 2008.03.30 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 71338095 2960339 HumanHap650Yv3.0_rs2960339 4.29e-01 unknown untested 2007.04.23 2007.04.23 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 74918455 2960339 ILMN_Human_1M_rs2960339 4.29e-01 germline untested 2007.08.29 2007.08.29 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 79155145 2960339 HumanHap300v2.0_rs2960339 4.29e-01 germline untested 2007.11.18 2007.11.18 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 84130628 2960339 KHS641905 4.29e-01 germline untested 2007.12.06 2007.12.06 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 84345766 2960339 Cor18555_SNV_20070510.chr19_43745531 4.29e-01 unknown untested 2007.12.07 2007.12.07 2001.11.05 2012.11.28 137 BGI 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 103437781 2960339 BGI_rs2960339 4.29e-01 germline untested 2008.06.06 2009.06.17 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 117702732 2960339 NA18507_000043954_NCBI36.1_chr19_43745531 4.29e-01 germline untested 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 122151137 2960339 HumanCNV370v1_C_rs2960339 4.29e-01 unknown untested 2009.04.15 2009.04.15 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 154248462 2960339 Human610_Quadv1_B_rs2960339-128_T_R_1501748090 4.29e-01 unknown untested 2009.06.20 2009.06.20 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 155887931 2960339 GMI_SNP_153777213 4.29e-01 unknown untested 2009.06.24 2009.06.24 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 159425367 2960339 Human660W-Quad_v1_A_rs2960339-128_T_R_1501748090 4.29e-01 unknown untested 2009.07.07 2009.07.07 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 160602209 2960339 HumanOmni1-Quad_v1-0_B_rs2960339-128_T_R_1501748090 4.29e-01 germline untested 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 168184189 2960339 NA07022_36_chr19_43745531 4.29e-01 unknown untested 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 169709177 2960339 NA19240_36_chr19_43745531 4.29e-01 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 171498098 2960339 HumanCNV370-Quadv3_C_rs2960339-128_T_R_1501748090 4.29e-01 germline untested 2009.10.01 2009.10.04 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 173541113 2960339 Human1M-Duov3_B_rs2960339-128_T_R_1501748090 4.29e-01 germline untested 2009.10.04 2009.10.04 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 203751097 2960339 BUSHMAN-chr19-43745530 4.29e-01 germline untested 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 228135976 2960339 pilot_1_YRI_9945659_chr19_43745531 4.29e-01 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 237674371 2960339 pilot_1_CEU_7279000_chr19_43745531 4.29e-01 unknown untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 243881159 2960339 pilot_1_CHB+JPT_5766236_chr19_43745531 4.29e-01 germline untested 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 283206225 2960339 GMI_AK_SNP_7526646 4.29e-01 germline untested 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 292248571 2960339 SNP_1754929_chr19_43745531 4.29e-01 unknown untested 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12624+1597T>C NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 475871676 2960339 RYR1_00388 4.29e-01 unknown untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 480727399 2960339 HumanOmni2.5-4v1_B_rs2960339-128_T_R_1775050173 4.29e-01 unknown untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 480743134 2960339 HumanOmniExpress-12v1_C_rs2960339-131_T_R_1857384116 4.29e-01 germline untested 2012.01.31 2012.01.31 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 481623315 2960339 HumanOmni1-Quad_v1-0_C_rs2960339-131_T_R_1865292942 4.29e-01 germline untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39053691T>C;NG_008866.1:g.134352T>C;NM_000540.2:c.12624+1597T>C;NM_001042723.1:c.12609+1597T>C 485158441 2960339 HumanOmni2.5-4v1_D_rs2960339-131_T_R_1857384116 4.29e-01 germline untested 2012.02.04 2012.02.04 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39053744T>C;NG_008866.1:g.134405T>C;NM_000540.2:c.12624+1650T>C;NM_001042723.1:c.12609+1650T>C 340454884 146672819 20100804_snps_12098425_chr19_39053744 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39053911T>C;NG_008866.1:g.134572T>C;NM_000540.2:c.12625-1688T>C;NM_001042723.1:c.12610-1688T>C 340454885 139046085 20100804_snps_12098426_chr19_39053911 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39053917T>A;NG_008866.1:g.134578T>A;NM_000540.2:c.12625-1682T>A;NM_001042723.1:c.12610-1682T>A 340454886 142568427 20100804_snps_12098427_chr19_39053917 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39053923G>C;NG_008866.1:g.134584G>C;NM_000540.2:c.12625-1676G>C;NM_001042723.1:c.12610-1676G>C 203751098 112545731 BUSHMAN-chr19-43745762 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39053962A>G;NG_008866.1:g.134623A>G;NM_000540.2:c.12625-1637A>G;NM_001042723.1:c.12610-1637A>G 340454887 150955404 20100804_snps_12098428_chr19_39053962 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054092G>T;NG_008866.1:g.134753G>T;NM_000540.2:c.12625-1507G>T;NM_001042723.1:c.12610-1507G>T 465587093 187726907 20101123_snps_11754323_chr19_39054092 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39054107G>A;NG_008866.1:g.134768G>A;NM_000540.2:c.12625-1492G>A;NM_001042723.1:c.12610-1492G>A 340454888 140576564 20100804_snps_12098429_chr19_39054107 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39054157G>A;NG_008866.1:g.134818G>A;NM_000540.2:c.12625-1442G>A;NM_001042723.1:c.12610-1442G>A 6628805 4802608 NT_011109.13_1209172 2.61e-02 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39054157G>A;NG_008866.1:g.134818G>A;NM_000540.2:c.12625-1442G>A;NM_001042723.1:c.12610-1442G>A 340454889 4802608 20100804_snps_12098430_chr19_39054157 2.61e-02 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39054234G>A;NG_008866.1:g.134895G>A;NM_000540.2:c.12625-1365G>A;NM_001042723.1:c.12610-1365G>A 340454890 147753926 20100804_snps_12098431_chr19_39054234 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054284C>A;NG_008866.1:g.134945C>A;NM_000540.2:c.12625-1315C>A;NM_001042723.1:c.12610-1315C>A 465587094 190800286 20101123_snps_11754324_chr19_39054284 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39054382G>C;NG_008866.1:g.135043G>C;NM_000540.2:c.12625-1217G>C;NM_001042723.1:c.12610-1217G>C 340454891 142651949 20100804_snps_12098432_chr19_39054382 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054578C>A;NG_008866.1:g.135239C>A;NM_000540.2:c.12625-1021C>A;NM_001042723.1:c.12610-1021C>A 340454892 146896358 20100804_snps_12098433_chr19_39054578 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054593T>C;NG_008866.1:g.135254T>C;NM_000540.2:c.12625-1006T>C;NM_001042723.1:c.12610-1006T>C 465587095 183948663 20101123_snps_11754325_chr19_39054593 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39054650T>C;NG_008866.1:g.135311T>C;NM_000540.2:c.12625-949T>C;NM_001042723.1:c.12610-949T>C 203751099 74509451 BUSHMAN-chr19-43746489 6.00e-03 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39054650T>C;NG_008866.1:g.135311T>C;NM_000540.2:c.12625-949T>C;NM_001042723.1:c.12610-949T>C 211962669 74509451 YRI.trio.3.2010_1440271_chr19_43746490 6.00e-03 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39054650T>C;NG_008866.1:g.135311T>C;NM_000540.2:c.12625-949T>C;NM_001042723.1:c.12610-949T>C 228135977 74509451 pilot_1_YRI_9945660_chr19_43746490 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39054795G>T;NG_008866.1:g.135456G>T;NM_000540.2:c.12625-804G>T;NM_001042723.1:c.12610-804G>T 340454893 139035649 20100804_snps_12098434_chr19_39054795 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054880C>T;NG_008866.1:g.135541C>T;NM_000540.2:c.12625-719C>T;NM_001042723.1:c.12610-719C>T 115121063 73550985 NA19240_2008_12_16_3257673_chr19_43746720 1.65e-02 2008.12.19 2008.12.19 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39054880C>T;NG_008866.1:g.135541C>T;NM_000540.2:c.12625-719C>T;NM_001042723.1:c.12610-719C>T 169709191 73550985 NA19240_36_chr19_43746720 1.65e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39054880C>T;NG_008866.1:g.135541C>T;NM_000540.2:c.12625-719C>T;NM_001042723.1:c.12610-719C>T 203751100 73550985 BUSHMAN-chr19-43746719 1.65e-02 2010.03.09 2010.03.09 2009.02.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39054880C>T;NG_008866.1:g.135541C>T;NM_000540.2:c.12625-719C>T;NM_001042723.1:c.12610-719C>T 228135978 73550985 pilot_1_YRI_9945661_chr19_43746720 1.65e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39054993G>A;NG_008866.1:g.135654G>A;NM_000540.2:c.12625-606G>A;NM_001042723.1:c.12610-606G>A 134832220 74636239 ENSSNP2340409 2009.05.13 2009.10.15 2009.12.01 2011.09.09 137 BGI 6261 NC_000019.9:g.39055001T>A;NC_000019.9:g.39055001T>G;NG_008866.1:g.135662T>A;NG_008866.1:g.135662T>G;NM_000540.2:c.12625-598T>A;NM_000540.2:c.12625-598T>G;NM_001042723.1:c.12610-598T>A;NM_001042723.1:c.12610-598T>G 104551737 74846449 BGI_rs7014527 2008.06.08 2009.06.18 2009.12.01 2011.09.09 137 GMI 6261 NC_000019.9:g.39055001T>A;NC_000019.9:g.39055001T>G;NG_008866.1:g.135662T>A;NG_008866.1:g.135662T>G;NM_000540.2:c.12625-598T>A;NM_000540.2:c.12625-598T>G;NM_001042723.1:c.12610-598T>A;NM_001042723.1:c.12610-598T>G 156638555 74846449 GMI_SNP_95470929 2009.06.25 2009.06.25 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39055017C>G;NC_000019.9:g.39055017C>T;NG_008866.1:g.135678C>G;NG_008866.1:g.135678C>T;NM_000540.2:c.12625-582C>G;NM_000540.2:c.12625-582C>T;NM_001042723.1:c.12610-582C>G;NM_001042723.1:c.12610-582C>T 135951928 78305575 ENSSNP1728902 2009.05.15 2009.10.14 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39055017C>G;NC_000019.9:g.39055017C>T;NG_008866.1:g.135678C>G;NG_008866.1:g.135678C>T;NM_000540.2:c.12625-582C>G;NM_000540.2:c.12625-582C>T;NM_001042723.1:c.12610-582C>G;NM_001042723.1:c.12610-582C>T 138640398 78305575 ENSSNP12222136 2009.05.18 2009.05.18 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055029G>T;NG_008866.1:g.135690G>T;NM_000540.2:c.12625-570G>T;NM_001042723.1:c.12610-570G>T 465587096 187958355 20101123_snps_11754326_chr19_39055029 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39055037C>T;NG_008866.1:g.135698C>T;NM_000540.2:c.12625-562C>T;NM_001042723.1:c.12610-562C>T 83811490 60024847 Cor19240_SNV_20070510.chr19_43746877 1.33e-02 2007.12.05 2007.12.05 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39055037C>T;NG_008866.1:g.135698C>T;NM_000540.2:c.12625-562C>T;NM_001042723.1:c.12610-562C>T 169709213 60024847 NA19240_36_chr19_43746877 1.33e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055037C>T;NG_008866.1:g.135698C>T;NM_000540.2:c.12625-562C>T;NM_001042723.1:c.12610-562C>T 340454895 60024847 20100804_snps_12098436_chr19_39055037 1.33e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055082G>A;NG_008866.1:g.135743G>A;NM_000540.2:c.12625-517G>A;NM_001042723.1:c.12610-517G>A 340454896 148112224 20100804_snps_12098437_chr19_39055082 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055096C>T;NG_008866.1:g.135757C>T;NM_000540.2:c.12625-503C>T;NM_001042723.1:c.12610-503C>T 340454897 141753586 20100804_snps_12098438_chr19_39055096 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39055129C>T;NG_008866.1:g.135790C>T;NM_000540.2:c.12625-470C>T;NM_001042723.1:c.12610-470C>T 82968340 60491344 Cor19240_SNV_20070510.chr19_43746969 4.12e-02 2007.12.04 2007.12.04 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055129C>T;NG_008866.1:g.135790C>T;NM_000540.2:c.12625-470C>T;NM_001042723.1:c.12610-470C>T 115121079 60491344 NA19240_2008_12_16_3257675_chr19_43746969 4.12e-02 2008.12.19 2008.12.19 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39055129C>T;NG_008866.1:g.135790C>T;NM_000540.2:c.12625-470C>T;NM_001042723.1:c.12610-470C>T 169709234 60491344 NA19240_36_chr19_43746969 4.12e-02 2009.10.01 2009.10.01 2007.12.16 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39055129C>T;NG_008866.1:g.135790C>T;NM_000540.2:c.12625-470C>T;NM_001042723.1:c.12610-470C>T 203751101 60491344 BUSHMAN-chr19-43746968 4.12e-02 2010.03.09 2010.03.09 2007.12.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055129C>T;NG_008866.1:g.135790C>T;NM_000540.2:c.12625-470C>T;NM_001042723.1:c.12610-470C>T 228135979 60491344 pilot_1_YRI_9945662_chr19_43746969 4.12e-02 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39055151T>G;NG_008866.1:g.135812T>G;NM_000540.2:c.12625-448T>G;NM_001042723.1:c.12610-448T>G 203751102 113183691 BUSHMAN-chr19-43746990 1.05e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055151T>G;NG_008866.1:g.135812T>G;NM_000540.2:c.12625-448T>G;NM_001042723.1:c.12610-448T>G 340454898 113183691 20100804_snps_12098439_chr19_39055151 1.05e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055211G>T;NG_008866.1:g.135872G>T;NM_000540.2:c.12625-388G>T;NM_001042723.1:c.12610-388G>T 465587097 192628584 20101123_snps_11754327_chr19_39055211 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39055304C>T;NG_008866.1:g.135965C>T;NM_000540.2:c.12625-295C>T;NM_001042723.1:c.12610-295C>T 14712595 10415792 chr19.NT_011109.15_11323522 5.54e-02 2003.11.10 2003.11.22 2003.12.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055304C>T;NG_008866.1:g.135965C>T;NM_000540.2:c.12625-295C>T;NM_001042723.1:c.12610-295C>T 243881160 10415792 pilot_1_CHB+JPT_5766237_chr19_43747144 5.54e-02 2010.05.01 2010.05.01 2003.12.05 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39055343C>T;NG_008866.1:g.136004C>T;NM_000540.2:c.12625-256C>T;NM_001042723.1:c.12610-256C>T 14712636 10415812 chr19.NT_011109.15_11323561 1.26e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39055343C>T;NG_008866.1:g.136004C>T;NM_000540.2:c.12625-256C>T;NM_001042723.1:c.12610-256C>T 168184202 10415812 NA07022_36_chr19_43747183 1.26e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 BL 6261 NC_000019.9:g.39055343C>T;NG_008866.1:g.136004C>T;NM_000540.2:c.12625-256C>T;NM_001042723.1:c.12610-256C>T 255669083 10415812 SNP49763_19_43747183 1.26e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39055343C>T;NG_008866.1:g.136004C>T;NM_000540.2:c.12625-256C>T;NM_001042723.1:c.12610-256C>T 283206226 10415812 GMI_AK_SNP_7526647 1.26e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055343C>T;NG_008866.1:g.136004C>T;NM_000540.2:c.12625-256C>T;NM_001042723.1:c.12610-256C>T 340454899 10415812 20100804_snps_12098440_chr19_39055343 1.26e-01 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39055352_39055356delCACCA;NG_008866.1:g.136013_136017delCACCA;NM_000540.2:c.12625-247_12625-243delCACCA;NM_001042723.1:c.12610-247_12610-243delCACCA 289387921 200893673 GMI_AK_INDEL_1065378 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39055361G>A;NG_008866.1:g.136022G>A;NM_000540.2:c.12625-238G>A;NM_001042723.1:c.12610-238G>A 340454900 141858105 20100804_snps_12098441_chr19_39055361 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39055407_39055408insC;NG_008866.1:g.136068_136069insC;NM_000540.2:c.12625-192_12625-191insC;NM_001042723.1:c.12610-192_12610-191insC 95728353 71165562 1104685411628 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39055412T>C;NG_008866.1:g.136073T>C;NM_000540.2:c.12625-187T>C;NM_001042723.1:c.12610-187T>C 340454901 146260773 20100804_snps_12098442_chr19_39055412 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39055436G>A;NG_008866.1:g.136097G>A;NM_000540.2:c.12625-163G>A;NM_001042723.1:c.12610-163G>A 340454902 139136652 20100804_snps_12098443_chr19_39055436 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 6261 NC_000019.9:g.39055603A>G;NG_008866.1:g.136264A>G;NM_000540.2:c.12629A>G;NM_001042723.1:c.12614A>G;NP_000531.2:p.Lys4210Arg;NP_001036188.1:p.Lys4205Arg 342496663 138932463 ESP2500-chr19-39055603 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.12640_12687del NC_000019.9:g.39055614_39055661del48;NG_008866.1:g.136275_136322del48;NM_000540.2:c.12640_12687del48;NM_001042723.1:c.12625_12672del48;NP_000531.2:p.Arg4214_Lys4229del;NP_001036188.1:p.Arg4209_Lys4224del 252444696 118192128 CCORE_20 untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.12640_12648del NC_000019.9:g.39055614_39055622delCGCCAGTTC;NG_008866.1:g.136275_136283delCGCCAGTTC;NM_000540.2:c.12640_12648delCGCCAGTTC;NM_001042723.1:c.12625_12633delCGCCAGTTC;NP_000531.2:p.Arg4214_Phe4216del;NP_001036188.1:p.Arg4209_Phe4211del 252444734 118192165 CCORE_71 pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12640_12648del NC_000019.9:g.39055614_39055622delCGCCAGTTC;NG_008866.1:g.136275_136283delCGCCAGTTC;NM_000540.2:c.12640_12648delCGCCAGTTC;NM_001042723.1:c.12625_12633delCGCCAGTTC;NP_000531.2:p.Arg4214_Phe4216del;NP_001036188.1:p.Arg4209_Phe4211del 475871686 118192165 RYR1_00238 pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39055646C>T;NG_008866.1:g.136307C>T;NM_000540.2:c.12672C>T;NM_001042723.1:c.12657C>T;NP_000531.2:p.Gly4224=;NP_001036188.1:p.Gly4219= 342496664 141678912 ESP2500-chr19-39055646 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.12700G>C NC_000019.9:g.39055674G>C;NG_008866.1:g.136335G>C;NM_000540.2:c.12700G>C;NM_001042723.1:c.12685G>C;NP_000531.2:p.Val4234Leu;NP_001036188.1:p.Val4229Leu 475871687 193922852 RYR1_00106 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39055715C>T;NG_008866.1:g.136376C>T;NM_000540.2:c.12741C>T;NM_001042723.1:c.12726C>T;NP_000531.2:p.Ala4247=;NP_001036188.1:p.Ala4242= 228135980 80039127 pilot_1_YRI_9945663_chr19_43747555 1.05e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39055715C>T;NG_008866.1:g.136376C>T;NM_000540.2:c.12741C>T;NM_001042723.1:c.12726C>T;NP_000531.2:p.Ala4247=;NP_001036188.1:p.Ala4242= 482339684 80039127 HumanOmni2.5-4v1_D_kgp21461536-0_B_F_1844275357 1.05e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39055715C>T;NG_008866.1:g.136376C>T;NM_000540.2:c.12741C>T;NM_001042723.1:c.12726C>T;NP_000531.2:p.Ala4247=;NP_001036188.1:p.Ala4242= 483826086 80039127 HumanOmni2.5-4v1_B_SNP19-43747555-0_B_F_1640531650 1.05e-02 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055715C>T;NG_008866.1:g.136376C>T;NM_000540.2:c.12741C>T;NM_001042723.1:c.12726C>T;NP_000531.2:p.Ala4247=;NP_001036188.1:p.Ala4242= 491158143 80039127 20110521_exome_665941_chr19_39055715 1.05e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39055724C>T;NG_008866.1:g.136385C>T;NM_000540.2:c.12750C>T;NM_001042723.1:c.12735C>T;NP_000531.2:p.Ile4250=;NP_001036188.1:p.Ile4245= 203751103 113553675 BUSHMAN-chr19-43747563 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 EXOME_CHIP 6261 NC_000019.9:g.39055774C>A;NG_008866.1:g.136435C>A;NM_000540.2:c.12800C>A;NM_001042723.1:c.12785C>A;NP_000531.2:p.Ala4267Glu;NP_001036188.1:p.Ala4262Glu 491546513 201315104 nonsyn_262739_chr_19_39055774 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 LUMC-LOVD 6261 NM_000540.2:c.12848A>T NC_000019.9:g.39055822A>T;NG_008866.1:g.136483A>T;NM_000540.2:c.12848A>T;NM_001042723.1:c.12833A>T;NP_000531.2:p.Glu4283Val;NP_001036188.1:p.Glu4278Val 475871688 193922853 RYR1_00129 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.12879G>C NC_000019.9:g.39055853G>C;NG_008866.1:g.136514G>C;NM_000540.2:c.12879G>C;NM_001042723.1:c.12864G>C;NP_000531.2:p.Ala4293=;NP_001036188.1:p.Ala4288= 475871689 193922854 RYR1_00018 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.12884C>T NC_000019.9:g.39055858C>T;NG_008866.1:g.136519C>T;NM_000540.2:c.12884C>T;NM_001042723.1:c.12869C>T;NP_000531.2:p.Ala4295Val;NP_001036188.1:p.Ala4290Val 475871690 193922855 RYR1_00304 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.12960_12968dup NC_000019.9:g.39055934_39055942dupGCGGCGGCT;NG_008866.1:g.136595_136603dupGCGGCGGCT;NM_000540.2:c.12960_12968dupGCGGCGGCT;NM_001042723.1:c.12945_12953dupGCGGCGGCT;NP_000531.2:p.Leu4320_Leu4323delinsLeuArgArgLeuArgArgLeu;NP_001036188.1:p.Leu4315_Leu4318delinsLeuArgArgLeuArgArgLeu 475871680 193922846 RYR1_00255 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.12986C>A NC_000019.9:g.39055960C>A;NG_008866.1:g.136621C>A;NM_000540.2:c.12986C>A;NM_001042723.1:c.12971C>A;NP_000531.2:p.Ala4329Asp;NP_001036188.1:p.Ala4324Asp 252444697 118192129 CCORE_21 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.12986C>A NC_000019.9:g.39055960C>A;NG_008866.1:g.136621C>A;NM_000540.2:c.12986C>A;NM_001042723.1:c.12971C>A;NP_000531.2:p.Ala4329Asp;NP_001036188.1:p.Ala4324Asp 475871691 118192129 RYR1_00287 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39055964C>T;NG_008866.1:g.136625C>T;NM_000540.2:c.12990C>T;NM_001042723.1:c.12975C>T;NP_000531.2:p.Thr4330=;NP_001036188.1:p.Thr4325= 465587098 184450380 20101123_snps_11754328_chr19_39055964 4.72e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 LUMC-LOVD 6261 NM_000540.2:c.13013_13032del NC_000019.9:g.39055987_39056006del20;NG_008866.1:g.136648_136667del20;NM_000540.2:c.13013_13032del20;NM_001042723.1:c.12998_13017del20;NP_000531.2:p.Ala4338_Gly4344delinsGlyfs;NP_001036188.1:p.Ala4333_Gly4339delinsGlyfs 475871692 193922856 RYR1_00307 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 SSAHASNP 6261 NC_000019.9:g.39056007G>C;NG_008866.1:g.136668G>C;NM_000540.2:c.13033G>C;NM_001042723.1:c.13018G>C;NP_000531.2:p.Ala4345Pro;NP_001036188.1:p.Ala4340Pro 21540113 12981200 WGSA-200403-chr19.chr19.NT_011109.15_11324225 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39056033C>G;NG_008866.1:g.136694C>G;NM_000540.2:c.13059C>G;NM_001042723.1:c.13044C>G;NP_000531.2:p.Gly4353=;NP_001036188.1:p.Gly4348= 208565543 112906851 BCM_CMT_1011-3146537 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.13254C>A NC_000019.9:g.39056228C>A;NG_008866.1:g.136889C>A;NM_000540.2:c.13254C>A;NM_001042723.1:c.13239C>A;NP_000531.2:p.Gly4418=;NP_001036188.1:p.Gly4413= 475871693 193922857 RYR1_00019 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39056240G>A;NG_008866.1:g.136901G>A;NM_000540.2:c.13266G>A;NM_001042723.1:c.13251G>A;NP_000531.2:p.Glu4422=;NP_001036188.1:p.Glu4417= 465587099 187674670 20101123_snps_11754329_chr19_39056240 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39056291C>T;NG_008866.1:g.136952C>T;NM_000540.2:c.13317C>T;NM_001042723.1:c.13302C>T;NP_000531.2:p.Ala4439=;NP_001036188.1:p.Ala4434= 168184215 113579185 NA07022_36_chr19_43748131 4.35e-02 germline untested 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39056291C>T;NG_008866.1:g.136952C>T;NM_000540.2:c.13317C>T;NM_001042723.1:c.13302C>T;NP_000531.2:p.Ala4439=;NP_001036188.1:p.Ala4434= 340454903 113579185 20100804_snps_12098444_chr19_39056291 4.35e-02 germline untested 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39056291C>T;NG_008866.1:g.136952C>T;NM_000540.2:c.13317C>T;NM_001042723.1:c.13302C>T;NP_000531.2:p.Ala4439=;NP_001036188.1:p.Ala4434= 469257102 113579185 Chromosome19_43748131 4.35e-02 unknown untested 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13317C>T NC_000019.9:g.39056291C>T;NG_008866.1:g.136952C>T;NM_000540.2:c.13317C>T;NM_001042723.1:c.13302C>T;NP_000531.2:p.Ala4439=;NP_001036188.1:p.Ala4434= 475871694 113579185 RYR1_00065 4.35e-02 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39056291C>T;NG_008866.1:g.136952C>T;NM_000540.2:c.13317C>T;NM_001042723.1:c.13302C>T;NP_000531.2:p.Ala4439=;NP_001036188.1:p.Ala4434= 491158144 113579185 20110521_exome_665942_chr19_39056291 4.35e-02 unknown untested 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39056667G>A;NG_008866.1:g.137328G>A;NM_000540.2:c.13437+256G>A;NM_001042723.1:c.13422+256G>A 465587100 191745458 20101123_snps_11754330_chr19_39056667 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39056804C>T;NG_008866.1:g.137465C>T;NM_000540.2:c.13437+393C>T;NM_001042723.1:c.13422+393C>T 14693282 10403180 chr19.NT_011109.15_11325022 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39056914C>T;NG_008866.1:g.137575C>T;NM_000540.2:c.13437+503C>T;NM_001042723.1:c.13422+503C>T 340454905 148633706 20100804_snps_12098446_chr19_39056914 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39057083T>C;NG_008866.1:g.137744T>C;NM_000540.2:c.13438-468T>C;NM_001042723.1:c.13423-468T>C 169709256 113867224 NA19240_36_chr19_43748923 1.07e-01 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39057083T>C;NG_008866.1:g.137744T>C;NM_000540.2:c.13438-468T>C;NM_001042723.1:c.13423-468T>C 255669088 113867224 SNP49764_19_43748923 1.07e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057083T>C;NG_008866.1:g.137744T>C;NM_000540.2:c.13438-468T>C;NM_001042723.1:c.13423-468T>C 340454906 113867224 20100804_snps_12098447_chr19_39057083 1.07e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39057088delC;NC_000019.9:g.39057088delCinsCAA;NG_008866.1:g.137749delC;NG_008866.1:g.137749delCinsCAA;NM_000540.2:c.13438-463delC;NM_000540.2:c.13438-463delCinsCAA;NM_001042723.1:c.13423-463delC;NM_001042723.1:c.13423-463delCinsCAA 103616573 76908864 JWB-4066195 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39057089_39057096delAAAAAAAA;NG_008866.1:g.137750_137757delAAAAAAAA;NM_000540.2:c.13438-462_13438-455delAAAAAAAA;NM_001042723.1:c.13423-462_13423-455delAAAAAAAA 95728354 71165563 1104685411629 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 DEVINE_LAB 6261 NC_000019.9:g.39057089delA;NC_000019.9:g.39057089delAinsAAAAAAAA;NG_008866.1:g.137750delA;NG_008866.1:g.137750delAinsAAAAAAAA;NM_000540.2:c.13438-462delA;NM_000540.2:c.13438-462delAinsAAAAAAAA;NM_001042723.1:c.13423-462delA;NM_001042723.1:c.13423-462delAinsAAAAAAAA 101314243 72160008 INDEL_GP36_2008a_2904212_0 2008.05.17 2008.05.17 2009.02.13 2012.05.11 137 DEVINE_LAB 6261 NC_000019.9:g.39057089delA;NC_000019.9:g.39057089delAinsAAAAAAAA;NG_008866.1:g.137750delA;NG_008866.1:g.137750delAinsAAAAAAAA;NM_000540.2:c.13438-462delA;NM_000540.2:c.13438-462delAinsAAAAAAAA;NM_001042723.1:c.13423-462delA;NM_001042723.1:c.13423-462delAinsAAAAAAAA 102461053 72160008 INDEL_GP36_2008a_1970451_0 2008.05.18 2008.05.18 2009.02.13 2012.05.11 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39057097A>G;NG_008866.1:g.137758A>G;NM_000540.2:c.13438-454A>G;NM_001042723.1:c.13423-454A>G 208567199 111836048 BCM_CMT_1011-3147115 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39057117A>G;NG_008866.1:g.137778A>G;NM_000540.2:c.13438-434A>G;NM_001042723.1:c.13423-434A>G 161878525 75828153 ENSSNP1527984 2009.09.26 2010.03.07 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057136_39057137delCT;NG_008866.1:g.137797_137798delCT;NM_000540.2:c.13438-415_13438-414delCT;NM_001042723.1:c.13423-415_13423-414delCT 499576463 199885006 20110316_indels_chr19_39057135_39057136 3.70e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057214C>T;NG_008866.1:g.137875C>T;NM_000540.2:c.13438-337C>T;NM_001042723.1:c.13423-337C>T 340454907 147725091 20100804_snps_12098448_chr19_39057214 1.24e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057285G>A;NG_008866.1:g.137946G>A;NM_000540.2:c.13438-266G>A;NM_001042723.1:c.13423-266G>A 340454908 77856572 20100804_snps_12098449_chr19_39057285 3.70e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057329G>C;NG_008866.1:g.137990G>C;NM_000540.2:c.13438-222G>C;NM_001042723.1:c.13423-222G>C 340454909 146906284 20100804_snps_12098450_chr19_39057329 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057336C>T;NG_008866.1:g.137997C>T;NM_000540.2:c.13438-215C>T;NM_001042723.1:c.13423-215C>T 340454910 147953585 20100804_snps_12098451_chr19_39057336 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057360G>T;NG_008866.1:g.138021G>T;NM_000540.2:c.13438-191G>T;NM_001042723.1:c.13423-191G>T 465587101 184807442 20101123_snps_11754331_chr19_39057360 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39057443T>G;NG_008866.1:g.138104T>G;NM_000540.2:c.13438-108T>G;NM_001042723.1:c.13423-108T>G 340454911 140469661 20100804_snps_12098452_chr19_39057443 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057453C>T;NG_008866.1:g.138114C>T;NM_000540.2:c.13438-98C>T;NM_001042723.1:c.13423-98C>T 465587102 189264882 20101123_snps_11754332_chr19_39057453 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 6261 NC_000019.9:g.39057548T>G;NG_008866.1:g.138209T>G;NM_000540.2:c.13438-3T>G;NM_001042723.1:c.13423-3T>G 169117428 111674413 Human1M-Duov3_B_GA034506-0_B_F_1533476932 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39057576C>T;NG_008866.1:g.138237C>T;NM_000540.2:c.13463C>T;NM_001042723.1:c.13448C>T;NP_000531.2:p.Pro4488Leu;NP_001036188.1:p.Pro4483Leu 342496665 150318524 ESP2500-chr19-39057576 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BCM_SSAHASNP 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 14696383 10405232 chr19.NT_011109.15_11325795 9.20e-03 2003.11.10 2006.10.25 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 228135982 10405232 pilot_1_YRI_9945665_chr19_43749417 9.20e-03 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 342496666 10405232 ESP2500-chr19-39057577 9.20e-03 2011.03.27 2011.03.27 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 482354929 10405232 HumanOmni2.5-4v1_D_kgp21546884-0_T_F_1844446038 9.20e-03 2012.02.01 2012.02.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 483826088 10405232 HumanOmni2.5-4v1_B_SNP19-43749417-0_T_F_1644528101 9.20e-03 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057577G>A;NG_008866.1:g.138238G>A;NM_000540.2:c.13464G>A;NM_001042723.1:c.13449G>A;NP_000531.2:p.Pro4488=;NP_001036188.1:p.Pro4483= 491158145 10405232 20110521_exome_665943_chr19_39057577 9.20e-03 2012.02.22 2012.02.22 2003.12.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13470G>A NC_000019.9:g.39057583G>A;NG_008866.1:g.138244G>A;NM_000540.2:c.13470G>A;NM_001042723.1:c.13455G>A;NP_000531.2:p.Glu4490=;NP_001036188.1:p.Glu4485= 475871695 193922858 RYR1_00040 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39057590C>G;NG_008866.1:g.138251C>G;NM_000540.2:c.13477C>G;NM_001042723.1:c.13462C>G;NP_000531.2:p.Pro4493Ala;NP_001036188.1:p.Pro4488Ala 342496667 149455643 ESP2500-chr19-39057590 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39057590C>G;NG_008866.1:g.138251C>G;NM_000540.2:c.13477C>G;NM_001042723.1:c.13462C>G;NP_000531.2:p.Pro4493Ala;NP_001036188.1:p.Pro4488Ala 491546514 149455643 nonsyn_262740_chr_19_39057590 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057593G>A;NG_008866.1:g.138254G>A;NM_000540.2:c.13480G>A;NM_001042723.1:c.13465G>A;NP_000531.2:p.Glu4494Lys;NP_001036188.1:p.Glu4489Lys 342496668 143849895 ESP2500-chr19-39057593 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39057597C>T;NG_008866.1:g.138258C>T;NM_000540.2:c.13484C>T;NM_001042723.1:c.13469C>T;NP_000531.2:p.Pro4495Leu;NP_001036188.1:p.Pro4490Leu 342496669 138929547 ESP2500-chr19-39057597 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA-UK 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 117702733 73933023 NA18507_000043955_NCBI36.1_chr19_43749455 9.60e-03 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 159739644 73933023 RYR1-43749455 9.60e-03 2009.07.10 2009.07.10 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 161063694 73933023 HumanOmni1-Quad_v1-0_B_SNP19-43749455-0_T_R_1588135246 9.60e-03 2009.08.07 2009.10.05 2009.02.14 2012.11.28 137 POPS 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 182258916 73933023 MHY16 9.60e-03 2009.12.18 2009.12.18 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 228135983 73933023 pilot_1_YRI_9945666_chr19_43749455 9.60e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 342496670 73933023 ESP2500-chr19-39057615 9.60e-03 2011.03.27 2011.03.27 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 479284717 73933023 HumanOmni1-Quad_v1-0_C_kgp21392637-0_T_R_1844137569 9.60e-03 2012.01.30 2012.01.30 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 491158146 73933023 20110521_exome_665944_chr19_39057615 9.60e-03 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39057615C>T;NG_008866.1:g.138276C>T;NM_000540.2:c.13502C>T;NM_001042723.1:c.13487C>T;NP_000531.2:p.Pro4501Leu;NP_001036188.1:p.Pro4496Leu 491546515 73933023 nonsyn_262741_chr_19_39057615 9.60e-03 2012.03.06 2012.03.06 2009.02.14 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 4171551 2960319 AC091486.2_127556 1.24e-02 unknown untested 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 83620409 2960319 Cor19240_SNV_20070510.chr19_43749456 1.24e-02 germline untested 2007.12.05 2007.12.05 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 115121081 2960319 NA19240_2008_12_16_3257676_chr19_43749456 1.24e-02 unknown untested 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 159739645 2960319 RYR1-43749456 1.24e-02 germline untested 2009.07.10 2009.07.10 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 160602206 2960319 HumanOmni1-Quad_v1-0_B_rs2960319-128_B_R_1562412394 1.24e-02 germline untested 2009.08.06 2009.10.04 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 169709275 2960319 NA19240_36_chr19_43749456 1.24e-02 germline untested 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 228135984 2960319 pilot_1_YRI_9945667_chr19_43749456 1.24e-02 unknown untested 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 342496671 2960319 ESP2500-chr19-39057616 1.24e-02 unknown untested 2011.03.27 2011.03.27 2001.11.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13503G>A NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 475871696 2960319 RYR1_00342 1.24e-02 germline untested 2011.11.25 2011.11.25 2001.11.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 481623303 2960319 HumanOmni1-Quad_v1-0_C_rs2960319-131_B_R_1863311220 1.24e-02 germline untested 2012.02.01 2012.02.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057616G>A;NG_008866.1:g.138277G>A;NM_000540.2:c.13503G>A;NM_001042723.1:c.13488G>A;NP_000531.2:p.Pro4501=;NP_001036188.1:p.Pro4496= 491158147 2960319 20110521_exome_665945_chr19_39057616 1.24e-02 germline untested 2012.02.22 2012.02.22 2001.11.05 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057618A>G;NG_008866.1:g.138279A>G;NM_000540.2:c.13505A>G;NM_001042723.1:c.13490A>G;NP_000531.2:p.Glu4502Gly;NP_001036188.1:p.Glu4497Gly 342496672 139647387 ESP2500-chr19-39057618 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.13509A>G NC_000019.9:g.39057622A>G;NG_008866.1:g.138283A>G;NM_000540.2:c.13509A>G;NM_001042723.1:c.13494A>G;NP_000531.2:p.Lys4503=;NP_001036188.1:p.Lys4498= 475871697 193922859 RYR1_00041 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39057626G>C;NG_008866.1:g.138287G>C;NM_000540.2:c.13513G>C;NM_001042723.1:c.13498G>C;NP_000531.2:p.Asp4505His;NP_001036188.1:p.Asp4500His 340454912 150396398 20100804_snps_12098453_chr19_39057626 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39057626G>C;NG_008866.1:g.138287G>C;NM_000540.2:c.13513G>C;NM_001042723.1:c.13498G>C;NP_000531.2:p.Asp4505His;NP_001036188.1:p.Asp4500His 342496673 150396398 ESP2500-chr19-39057626 3.20e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057626G>C;NG_008866.1:g.138287G>C;NM_000540.2:c.13513G>C;NM_001042723.1:c.13498G>C;NP_000531.2:p.Asp4505His;NP_001036188.1:p.Asp4500His 491158148 150396398 20110521_exome_665946_chr19_39057626 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39057626G>C;NG_008866.1:g.138287G>C;NM_000540.2:c.13513G>C;NM_001042723.1:c.13498G>C;NP_000531.2:p.Asp4505His;NP_001036188.1:p.Asp4500His 491546516 150396398 splice_262742_chr_19_39057626 3.20e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39057628G>C;NC_000019.9:g.39057628G>T;NG_008866.1:g.138289G>C;NG_008866.1:g.138289G>T;NM_000540.2:c.13514+1G>C;NM_000540.2:c.13514+1G>T;NM_001042723.1:c.13499+1G>C;NM_001042723.1:c.13499+1G>T 168988868 112703949 Human1M-Duov3_B_GA016304-0_T_R_1533446173 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.39057628G>C;NC_000019.9:g.39057628G>T;NG_008866.1:g.138289G>C;NG_008866.1:g.138289G>T;NM_000540.2:c.13514+1G>C;NM_000540.2:c.13514+1G>T;NM_001042723.1:c.13499+1G>C;NM_001042723.1:c.13499+1G>T 203751104 112703949 BUSHMAN-chr19-43749467 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 1000GENOMES 6261 NC_000019.9:g.39057652C>T;NG_008866.1:g.138313C>T;NM_000540.2:c.13514+25C>T;NM_001042723.1:c.13499+25C>T 489164678 201024762 20110521_exome_255725_chr19_39057652 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057653C>G;NG_008866.1:g.138314C>G;NM_000540.2:c.13514+26C>G;NM_001042723.1:c.13499+26C>G 489164680 200710291 20110521_exome_255726_chr19_39057653 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057692C>T;NG_008866.1:g.138353C>T;NM_000540.2:c.13514+65C>T;NM_001042723.1:c.13499+65C>T 340454913 138124315 20100804_snps_12098454_chr19_39057692 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39057704C>T;NG_008866.1:g.138365C>T;NM_000540.2:c.13514+77C>T;NM_001042723.1:c.13499+77C>T 14696422 10405261 chr19.NT_011109.15_11325922 9.20e-03 germline untested 2003.11.10 2006.10.25 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057704C>T;NG_008866.1:g.138365C>T;NM_000540.2:c.13514+77C>T;NM_001042723.1:c.13499+77C>T 340454914 10405261 20100804_snps_12098455_chr19_39057704 9.20e-03 germline untested 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13514+77C>T NC_000019.9:g.39057704C>T;NG_008866.1:g.138365C>T;NM_000540.2:c.13514+77C>T;NM_001042723.1:c.13499+77C>T 475871698 10405261 RYR1_00389 9.20e-03 germline untested 2011.11.25 2011.11.25 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057722C>T;NG_008866.1:g.138383C>T;NM_000540.2:c.13514+95C>T;NM_001042723.1:c.13499+95C>T 243881161 117975681 pilot_1_CHB+JPT_5766238_chr19_43749562 2.70e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39057860G>A;NG_008866.1:g.138521G>A;NM_000540.2:c.13514+233G>A;NM_001042723.1:c.13499+233G>A 465587103 180950632 20101123_snps_11754333_chr19_39057860 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.39057935C>T;NG_008866.1:g.138596C>T;NM_000540.2:c.13514+308C>T;NM_001042723.1:c.13499+308C>T 117702736 73933024 NA18507_000043956_NCBI36.1_chr19_43749775 1.47e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057935C>T;NG_008866.1:g.138596C>T;NM_000540.2:c.13514+308C>T;NM_001042723.1:c.13499+308C>T 228135985 73933024 pilot_1_YRI_9945668_chr19_43749775 1.47e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057972_39057973insA;NG_008866.1:g.138633_138634insA;NM_000540.2:c.13514+345_13514+346insA;NM_001042723.1:c.13499+345_13499+346insA 499576467 201068971 20110316_indels_chr19_39057972_39057973 5.00e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39057984T>C;NG_008866.1:g.138645T>C;NM_000540.2:c.13514+357T>C;NM_001042723.1:c.13499+357T>C 243881162 79783610 pilot_1_CHB+JPT_5766239_chr19_43749824 1.83e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39057997A>T;NG_008866.1:g.138658A>T;NM_000540.2:c.13514+370A>T;NM_001042723.1:c.13499+370A>T 465587104 185541702 20101123_snps_11754334_chr19_39057997 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058020C>T;NG_008866.1:g.138681C>T;NM_000540.2:c.13514+393C>T;NM_001042723.1:c.13499+393C>T 465587105 189253170 20101123_snps_11754335_chr19_39058020 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058053delA;NG_008866.1:g.138714delA;NM_000540.2:c.13515-360delA;NM_001042723.1:c.13500-360delA 328276264 139065278 YRI_chr19_43749892_indel 1.37e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058053delA;NG_008866.1:g.138714delA;NM_000540.2:c.13515-360delA;NM_001042723.1:c.13500-360delA 499576472 139065278 20110316_indels_chr19_39058052_39058052 1.37e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39058086T>A;NG_008866.1:g.138747T>A;NM_000540.2:c.13515-327T>A;NM_001042723.1:c.13500-327T>A 18225136 12104200 SC-CHR1_NA17109-200402.chr19.NT_011109.15_11326304 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39058158A>G;NG_008866.1:g.138819A>G;NM_000540.2:c.13515-255A>G;NM_001042723.1:c.13500-255A>G 19405039 12462002 CSHL-HuDD-200402.chr19.NT_011109.15_11326376 2.98e-02 2004.02.21 2006.10.26 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39058158A>G;NG_008866.1:g.138819A>G;NM_000540.2:c.13515-255A>G;NM_001042723.1:c.13500-255A>G 161878526 12462002 ENSSNP1527985 2.98e-02 2009.09.26 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058158A>G;NG_008866.1:g.138819A>G;NM_000540.2:c.13515-255A>G;NM_001042723.1:c.13500-255A>G 243881163 12462002 pilot_1_CHB+JPT_5766240_chr19_43749998 2.98e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39058158A>G;NG_008866.1:g.138819A>G;NM_000540.2:c.13515-255A>G;NM_001042723.1:c.13500-255A>G 283206227 12462002 GMI_AK_SNP_7526648 2.98e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 4171552 2960320 AC091486.2_128114 1.14e-01 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 23614694 2960320 afd4390419 1.14e-01 2004.08.20 2004.09.13 2001.11.05 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 69228184 2960320 PGP04390419 1.14e-01 2007.01.30 2008.03.31 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 115121091 2960320 NA19240_2008_12_16_3257677_chr19_43750014 1.14e-01 2008.12.19 2008.12.19 2001.11.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 117702738 2960320 NA18507_000043957_NCBI36.1_chr19_43750014 1.14e-01 2009.01.20 2009.01.20 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 168184234 2960320 NA07022_36_chr19_43750014 1.14e-01 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 169709298 2960320 NA19240_36_chr19_43750014 1.14e-01 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 203751105 2960320 BUSHMAN-chr19-43750013 1.14e-01 2010.03.09 2010.03.09 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 228135986 2960320 pilot_1_YRI_9945669_chr19_43750014 1.14e-01 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 237674372 2960320 pilot_1_CEU_7279001_chr19_43750014 1.14e-01 2010.05.01 2010.05.01 2001.11.05 2012.11.28 137 BL 6261 NC_000019.9:g.39058174C>G;NG_008866.1:g.138835C>G;NM_000540.2:c.13515-239C>G;NM_001042723.1:c.13500-239C>G 255669096 2960320 SNP49765_19_43750014 1.14e-01 2010.08.20 2010.08.20 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058186C>T;NG_008866.1:g.138847C>T;NM_000540.2:c.13515-227C>T;NM_001042723.1:c.13500-227C>T 340454915 145031089 20100804_snps_12098456_chr19_39058186 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39058222C>G;NG_008866.1:g.138883C>G;NM_000540.2:c.13515-191C>G;NM_001042723.1:c.13500-191C>G 465587106 181961522 20101123_snps_11754336_chr19_39058222 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058318G>A;NG_008866.1:g.138979G>A;NM_000540.2:c.13515-95G>A;NM_001042723.1:c.13500-95G>A 237674373 117779472 pilot_1_CEU_7279002_chr19_43750158 1.14e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39058352G>C;NG_008866.1:g.139013G>C;NM_000540.2:c.13515-61G>C;NM_001042723.1:c.13500-61G>C 340454916 138680650 20100804_snps_12098457_chr19_39058352 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39058370C>T;NG_008866.1:g.139031C>T;NM_000540.2:c.13515-43C>T;NM_001042723.1:c.13500-43C>T 489164682 200025780 20110521_exome_255727_chr19_39058370 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39058411A>G;NC_000019.9:g.39058411A>T;NG_008866.1:g.139072A>G;NG_008866.1:g.139072A>T;NM_000540.2:c.13515-2A>G;NM_000540.2:c.13515-2A>T;NM_001042723.1:c.13500-2A>G;NM_001042723.1:c.13500-2A>T 168988882 112326951 Human1M-Duov3_B_GA016305-0_B_R_1533446756 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 6261 NC_000019.9:g.39058411A>G;NC_000019.9:g.39058411A>T;NG_008866.1:g.139072A>G;NG_008866.1:g.139072A>T;NM_000540.2:c.13515-2A>G;NM_000540.2:c.13515-2A>T;NM_001042723.1:c.13500-2A>G;NM_001042723.1:c.13500-2A>T 203751106 112326951 BUSHMAN-chr19-43750250 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 ILLUMINA 6261 NC_000019.9:g.39058412G>A;NG_008866.1:g.139073G>A;NM_000540.2:c.13515-1G>A;NM_001042723.1:c.13500-1G>A 169117440 111839670 Human1M-Duov3_B_GA034507-0_T_F_1533481567 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39058428G>A;NG_008866.1:g.139089G>A;NM_000540.2:c.13530G>A;NM_001042723.1:c.13515G>A;NP_000531.2:p.Glu4510=;NP_001036188.1:p.Glu4505= 342496674 150849957 ESP2500-chr19-39058428 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39058438G>T;NG_008866.1:g.139099G>T;NM_000540.2:c.13540G>T;NM_001042723.1:c.13525G>T;NP_000531.2:p.Val4514Phe;NP_001036188.1:p.Val4509Phe 342496675 139285170 ESP2500-chr19-39058438 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39058445A>G;NG_008866.1:g.139106A>G;NM_000540.2:c.13547A>G;NM_001042723.1:c.13532A>G;NP_000531.2:p.Glu4516Gly;NP_001036188.1:p.Glu4511Gly 342496676 149984626 ESP2500-chr19-39058445 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39058445A>G;NG_008866.1:g.139106A>G;NM_000540.2:c.13547A>G;NM_001042723.1:c.13532A>G;NP_000531.2:p.Glu4516Gly;NP_001036188.1:p.Glu4511Gly 491546517 149984626 nonsyn_262743_chr_19_39058445 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39058463C>G;NG_008866.1:g.139124C>G;NM_000540.2:c.13565C>G;NM_001042723.1:c.13550C>G;NP_000531.2:p.Pro4522Arg;NP_001036188.1:p.Pro4517Arg 342496677 145167688 ESP2500-chr19-39058463 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39058501G>A;NG_008866.1:g.139162G>A;NM_000540.2:c.13603G>A;NM_001042723.1:c.13588G>A;NP_000531.2:p.Glu4535Lys;NP_001036188.1:p.Glu4530Lys 342496678 141444745 ESP2500-chr19-39058501 somatic untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 YSAMUELS 6261 NC_000019.8:g.43750341G>A NC_000019.9:g.39058501G>A;NG_008866.1:g.139162G>A;NM_000540.2:c.13603G>A;NM_001042723.1:c.13588G>A;NP_000531.2:p.Glu4535Lys;NP_001036188.1:p.Glu4530Lys 537711545 141444745 NC_000019.8:g.43750341G>A somatic untested 2012.07.17 2012.07.17 2011.05.09 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 3248534 2302296 IMS-JST058619 2.70e-03 germline untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 160533615 2302296 HumanOmni1-Quad_v1-0_B_rs2302296-128_T_R_1562410355 2.70e-03 unknown untested 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 340454917 2302296 20100804_snps_12098458_chr19_39058515 2.70e-03 germline untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13617C>T NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 475871699 2302296 RYR1_00042 2.70e-03 unknown untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 481348867 2302296 HumanOmni1-Quad_v1-0_C_rs2302296-131_T_R_1863337485 2.70e-03 unknown untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058515C>T;NG_008866.1:g.139176C>T;NM_000540.2:c.13617C>T;NM_001042723.1:c.13602C>T;NP_000531.2:p.Gly4539=;NP_001036188.1:p.Gly4534= 491158149 2302296 20110521_exome_665947_chr19_39058515 2.70e-03 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058526G>T;NG_008866.1:g.139187G>T;NM_000540.2:c.13628G>T;NM_001042723.1:c.13613G>T;NP_000531.2:p.Gly4543Val;NP_001036188.1:p.Gly4538Val 489164685 200002274 20110521_exome_255728_chr19_39058526 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39058530A>G;NG_008866.1:g.139191A>G;NM_000540.2:c.13632A>G;NM_001042723.1:c.13617A>G;NP_000531.2:p.Glu4544=;NP_001036188.1:p.Glu4539= 342496679 143887810 ESP2500-chr19-39058530 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39058548G>C;NG_008866.1:g.139209G>C;NM_000540.2:c.13650G>C;NM_001042723.1:c.13635G>C;NP_000531.2:p.Val4550=;NP_001036188.1:p.Val4545= 489164687 201951387 20110521_exome_255729_chr19_39058548 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39058692G>T;NG_008866.1:g.139353G>T;NM_000540.2:c.13659+135G>T;NM_001042723.1:c.13644+135G>T 465587107 185841060 20101123_snps_11754337_chr19_39058692 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058749G>T;NG_008866.1:g.139410G>T;NM_000540.2:c.13659+192G>T;NM_001042723.1:c.13644+192G>T 340454918 146287098 20100804_snps_12098459_chr19_39058749 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39058750G>T;NG_008866.1:g.139411G>T;NM_000540.2:c.13659+193G>T;NM_001042723.1:c.13644+193G>T 465587108 190547541 20101123_snps_11754338_chr19_39058750 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058754C>T;NG_008866.1:g.139415C>T;NM_000540.2:c.13659+197C>T;NM_001042723.1:c.13644+197C>T 465587109 181107880 20101123_snps_11754339_chr19_39058754 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39058959T>A;NG_008866.1:g.139620T>A;NM_000540.2:c.13659+402T>A;NM_001042723.1:c.13644+402T>A 340454919 138109571 20100804_snps_12098460_chr19_39058959 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39059075G>A;NG_008866.1:g.139736G>A;NM_000540.2:c.13659+518G>A;NM_001042723.1:c.13644+518G>A 340454920 141647591 20100804_snps_12098461_chr19_39059075 1.51e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39059222delA;NG_008866.1:g.139883delA;NM_000540.2:c.13659+665delA;NM_001042723.1:c.13644+665delA 79809944 59369147 Cor18507_DIV_20070510.chr19_43751081-43751083_1 2007.11.23 2007.11.23 2007.12.15 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39059223A>C;NG_008866.1:g.139884A>C;NM_000540.2:c.13659+666A>C;NM_001042723.1:c.13644+666A>C 137670645 78766890 ENSSNP11444421 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39059306C>T;NG_008866.1:g.139967C>T;NM_000540.2:c.13659+749C>T;NM_001042723.1:c.13644+749C>T 203751107 112703284 BUSHMAN-chr19-43751145 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 BL 6261 NC_000019.9:g.39059421C>G;NG_008866.1:g.140082C>G;NM_000540.2:c.13659+864C>G;NM_001042723.1:c.13644+864C>G 255669101 150016072 SNP49766_19_43751261 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 ABI 6261 NC_000019.9:g.39059434_39059435delAT;NG_008866.1:g.140095_140096delAT;NM_000540.2:c.13659+877_13659+878delAT;NM_001042723.1:c.13644+877_13644+878delAT 41038216 35209802 hCV32823648 5.04e-02 2005.07.17 2005.07.17 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059434_39059435delAT;NG_008866.1:g.140095_140096delAT;NM_000540.2:c.13659+877_13659+878delAT;NM_001042723.1:c.13644+877_13644+878delAT 328032228 35209802 CEU_chr19_43751273_indel 5.04e-02 2011.03.13 2011.04.03 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059434_39059435delAT;NG_008866.1:g.140095_140096delAT;NM_000540.2:c.13659+877_13659+878delAT;NM_001042723.1:c.13644+877_13644+878delAT 499576476 35209802 20110316_indels_chr19_39059433_39059434 5.04e-02 2012.03.20 2012.03.20 2006.03.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059502A>G;NG_008866.1:g.140163A>G;NM_000540.2:c.13659+945A>G;NM_001042723.1:c.13644+945A>G 465587110 186467266 20101123_snps_11754340_chr19_39059502 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39059552G>A;NG_008866.1:g.140213G>A;NM_000540.2:c.13659+995G>A;NM_001042723.1:c.13644+995G>A 465587111 190902550 20101123_snps_11754341_chr19_39059552 7.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39059601G>A;NG_008866.1:g.140262G>A;NM_000540.2:c.13659+1044G>A;NM_001042723.1:c.13644+1044G>A 340454921 150513369 20100804_snps_12098462_chr19_39059601 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39059667T>G;NG_008866.1:g.140328T>G;NM_000540.2:c.13659+1110T>G;NM_001042723.1:c.13644+1110T>G 137670648 74878518 ENSSNP11444422 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39059668T>C;NG_008866.1:g.140329T>C;NM_000540.2:c.13659+1111T>C;NM_001042723.1:c.13644+1111T>C 5163096 3926914 TSC0398735 2002.09.19 2003.10.10 2002.10.10 2011.07.08 137 SC_JCM 6261 NC_000019.9:g.39059697T>C;NG_008866.1:g.140358T>C;NM_000540.2:c.13659+1140T>C;NM_001042723.1:c.13644+1140T>C 4102780 2907613 AC005933.1_14830 2.16e-01 2001.10.15 2003.10.10 2001.11.05 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39059697T>C;NG_008866.1:g.140358T>C;NM_000540.2:c.13659+1140T>C;NM_001042723.1:c.13644+1140T>C 19400627 2907613 CSHL-HuDD-200402.chr19.NT_011109.15_11327915 2.16e-01 2004.02.21 2004.03.04 2001.11.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39059697T>C;NG_008866.1:g.140358T>C;NM_000540.2:c.13659+1140T>C;NM_001042723.1:c.13644+1140T>C 168184245 2907613 NA07022_36_chr19_43751537 2.16e-01 2009.09.30 2009.09.30 2001.11.05 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39059697T>C;NG_008866.1:g.140358T>C;NM_000540.2:c.13659+1140T>C;NM_001042723.1:c.13644+1140T>C 169709318 2907613 NA19240_36_chr19_43751537 2.16e-01 2009.10.01 2009.10.01 2001.11.05 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39059697T>C;NG_008866.1:g.140358T>C;NM_000540.2:c.13659+1140T>C;NM_001042723.1:c.13644+1140T>C 340454922 2907613 20100804_snps_12098463_chr19_39059697 2.16e-01 2011.03.22 2011.03.22 2001.11.05 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39059714A>G;NG_008866.1:g.140375A>G;NM_000540.2:c.13659+1157A>G;NM_001042723.1:c.13644+1157A>G 96305737 71356812 1103691141968 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39059714A>G;NG_008866.1:g.140375A>G;NM_000540.2:c.13659+1157A>G;NM_001042723.1:c.13644+1157A>G 142789188 71356812 ENSSNP4732997 2009.06.05 2009.10.16 2009.02.13 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39059729_39059733delCAAGCinsAAACT;NG_008866.1:g.140390_140394delCAAGCinsAAACT;NM_000540.2:c.13659+1172_13659+1176delCAAGCinsAAACT;NM_001042723.1:c.13644+1172_13644+1176delCAAGCinsAAACT 96283742 71334834 1104754399411 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39059741C>T;NG_008866.1:g.140402C>T;NM_000540.2:c.13659+1184C>T;NM_001042723.1:c.13644+1184C>T 465587112 182521524 20101123_snps_11754342_chr19_39059741 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39059751C>T;NG_008866.1:g.140412C>T;NM_000540.2:c.13659+1194C>T;NM_001042723.1:c.13644+1194C>T 208532471 111299568 BCM_CMT_1011-3135486 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39059799C>T;NG_008866.1:g.140460C>T;NM_000540.2:c.13659+1242C>T;NM_001042723.1:c.13644+1242C>T 465587113 185425010 20101123_snps_11754343_chr19_39059799 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39059815T>A;NG_008866.1:g.140476T>A;NM_000540.2:c.13659+1258T>A;NM_001042723.1:c.13644+1258T>A 465587114 191026710 20101123_snps_11754344_chr19_39059815 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39059840C>T;NG_008866.1:g.140501C>T;NM_000540.2:c.13659+1283C>T;NM_001042723.1:c.13644+1283C>T 465587115 183538839 20101123_snps_11754345_chr19_39059840 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39059857A>G;NG_008866.1:g.140518A>G;NM_000540.2:c.13659+1300A>G;NM_001042723.1:c.13644+1300A>G 203751108 111233139 BUSHMAN-chr19-43751696 8.20e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059857A>G;NG_008866.1:g.140518A>G;NM_000540.2:c.13659+1300A>G;NM_001042723.1:c.13644+1300A>G 340454923 111233139 20100804_snps_12098464_chr19_39059857 8.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39059863A>G;NG_008866.1:g.140524A>G;NM_000540.2:c.13659+1306A>G;NM_001042723.1:c.13644+1306A>G 168184254 111397327 NA07022_36_chr19_43751703 8.42e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059863A>G;NG_008866.1:g.140524A>G;NM_000540.2:c.13659+1306A>G;NM_001042723.1:c.13644+1306A>G 228135987 111397327 pilot_1_YRI_9945670_chr19_43751703 8.42e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059863A>G;NG_008866.1:g.140524A>G;NM_000540.2:c.13659+1306A>G;NM_001042723.1:c.13644+1306A>G 237674375 111397327 pilot_1_CEU_7279004_chr19_43751703 8.42e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39059863A>G;NG_008866.1:g.140524A>G;NM_000540.2:c.13659+1306A>G;NM_001042723.1:c.13644+1306A>G 255669103 111397327 SNP49767_19_43751703 8.42e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059868C>T;NG_008866.1:g.140529C>T;NM_000540.2:c.13659+1311C>T;NM_001042723.1:c.13644+1311C>T 465587116 187382232 20101123_snps_11754346_chr19_39059868 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39059888C>T;NG_008866.1:g.140549C>T;NM_000540.2:c.13659+1331C>T;NM_001042723.1:c.13644+1331C>T 340454924 147367201 20100804_snps_12098465_chr19_39059888 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 6261 NC_000019.9:g.39059898T>C;NG_008866.1:g.140559T>C;NM_000540.2:c.13659+1341T>C;NM_001042723.1:c.13644+1341T>C 20067025 12609907 CSHL-HuFF-200402.chr19.NT_011109.15_11328116 2004.02.22 2004.03.04 2004.02.28 2011.09.09 137 ABI 6261 NC_000019.9:g.39059898T>C;NG_008866.1:g.140559T>C;NM_000540.2:c.13659+1341T>C;NM_001042723.1:c.13644+1341T>C 41012755 12609907 hCV26218750 2005.07.17 2005.07.17 2004.02.28 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39059898T>C;NG_008866.1:g.140559T>C;NM_000540.2:c.13659+1341T>C;NM_001042723.1:c.13644+1341T>C 161878527 12609907 ENSSNP1527986 2009.09.26 2010.03.07 2004.02.28 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39059946C>T;NG_008866.1:g.140607C>T;NM_000540.2:c.13660-1301C>T;NM_001042723.1:c.13645-1301C>T 4102781 2907614 AC005933.1_15079 1.19e-02 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39059946C>T;NG_008866.1:g.140607C>T;NM_000540.2:c.13660-1301C>T;NM_001042723.1:c.13645-1301C>T 169709339 2907614 NA19240_36_chr19_43751786 1.19e-02 2009.10.01 2009.10.01 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39059946C>T;NG_008866.1:g.140607C>T;NM_000540.2:c.13660-1301C>T;NM_001042723.1:c.13645-1301C>T 340454925 2907614 20100804_snps_12098466_chr19_39059946 1.19e-02 2011.03.22 2011.03.22 2001.11.05 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39059973T>A;NG_008866.1:g.140634T>A;NM_000540.2:c.13660-1274T>A;NM_001042723.1:c.13645-1274T>A 137670652 79969356 ENSSNP11444423 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39059988G>T;NG_008866.1:g.140649G>T;NM_000540.2:c.13660-1259G>T;NM_001042723.1:c.13645-1259G>T 12473535 8113330 chr19.NT_011109.15_11328206 1.10e-02 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39059988G>T;NG_008866.1:g.140649G>T;NM_000540.2:c.13660-1259G>T;NM_001042723.1:c.13645-1259G>T 228135988 8113330 pilot_1_YRI_9945671_chr19_43751828 1.10e-02 2010.04.22 2010.04.22 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39059994C>T;NG_008866.1:g.140655C>T;NM_000540.2:c.13660-1253C>T;NM_001042723.1:c.13645-1253C>T 465587117 192906394 20101123_snps_11754347_chr19_39059994 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39060037delT;NG_008866.1:g.140698delT;NM_000540.2:c.13660-1210delT;NM_001042723.1:c.13645-1210delT 499576482 201862411 20110316_indels_chr19_39060036_39060036 8.20e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BL 6261 NC_000019.9:g.39060192_39060193insA;NG_008866.1:g.140853_140854insA;NM_000540.2:c.13660-1055_13660-1054insA;NM_001042723.1:c.13645-1055_13645-1054insA 256205664 148980907 SNP3823_19_43752032 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 GMI 6261 NC_000019.9:g.39060206_39060207insA;NG_008866.1:g.140867_140868insA;NM_000540.2:c.13660-1041_13660-1040insA;NM_001042723.1:c.13645-1041_13645-1040insA 289387922 201558020 GMI_AK_INDEL_1065379 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39060232G>A;NG_008866.1:g.140893G>A;NM_000540.2:c.13660-1015G>A;NM_001042723.1:c.13645-1015G>A 465587118 183154035 20101123_snps_11754348_chr19_39060232 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 10944219 6508808 chr19.NT_011109.15_11328456 1.99e-01 2003.06.30 2006.10.25 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 12473635 6508808 chr19.NT_011109.15_11328456 1.99e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 46554521 6508808 PS04332608 1.99e-01 2005.08.01 2005.08.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 67465315 6508808 HumanHap550v1.1_rs6508808 1.99e-01 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 67819439 6508808 HumanHap650Yv1.0_rs6508808 1.99e-01 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 68252920 6508808 HumanHap250Sv1.0_rs6508808 1.99e-01 2006.12.06 2006.12.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 70869782 6508808 HumanHap550v3.0__rs6508808 1.99e-01 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 71458461 6508808 HumanHap650Yv3.0_rs6508808 1.99e-01 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 75607839 6508808 ILMN_Human_1M_rs6508808 1.99e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 84493845 6508808 KHS725267 1.99e-01 2007.12.07 2007.12.07 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 117702740 6508808 NA18507_000043958_NCBI36.1_chr19_43752078 1.99e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 154365012 6508808 Human610_Quadv1_B_rs6508808-126_B_F_1502240079 1.99e-01 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 159541186 6508808 Human660W-Quad_v1_A_rs6508808-126_B_F_1502240079 1.99e-01 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 160782052 6508808 HumanOmni1-Quad_v1-0_B_rs6508808-126_B_F_1501523003 1.99e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 168184267 6508808 NA07022_36_chr19_43752078 1.99e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 174022253 6508808 Human1M-Duov3_B_rs6508808-126_B_F_1502240079 1.99e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 203751109 6508808 BUSHMAN-chr19-43752077 1.99e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 228135990 6508808 pilot_1_YRI_9945673_chr19_43752078 1.99e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 237674378 6508808 pilot_1_CEU_7279007_chr19_43752078 1.99e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 243881164 6508808 pilot_1_CHB+JPT_5766241_chr19_43752078 1.99e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 255669111 6508808 SNP49768_19_43752078 1.99e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 283206228 6508808 GMI_AK_SNP_7526649 1.99e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 292248572 6508808 SNP_1754930_chr19_43752078 1.99e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 481267840 6508808 HumanOmni2.5-4v1_B_rs6508808-128_B_F_1502240079 1.99e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 481292201 6508808 HumanOmniExpress-12v1_C_rs6508808-131_B_F_1856976709 1.99e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 482276009 6508808 HumanOmni1-Quad_v1-0_C_rs6508808-131_B_F_1865702968 1.99e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39060238C>T;NG_008866.1:g.140899C>T;NM_000540.2:c.13660-1009C>T;NM_001042723.1:c.13645-1009C>T 485429177 6508808 HumanOmni2.5-4v1_D_rs6508808-131_B_F_1856976709 1.99e-01 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060248G>A;NG_008866.1:g.140909G>A;NM_000540.2:c.13660-999G>A;NM_001042723.1:c.13645-999G>A 340454926 144817556 20100804_snps_12098467_chr19_39060248 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39060254C>T;NG_008866.1:g.140915C>T;NM_000540.2:c.13660-993C>T;NM_001042723.1:c.13645-993C>T 10944233 7260146 chr19.NT_011109.15_11328472 1.10e-02 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060254C>T;NG_008866.1:g.140915C>T;NM_000540.2:c.13660-993C>T;NM_001042723.1:c.13645-993C>T 228135991 7260146 pilot_1_YRI_9945674_chr19_43752094 1.10e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060280T>G;NG_008866.1:g.140941T>G;NM_000540.2:c.13660-967T>G;NM_001042723.1:c.13645-967T>G 465587119 188032897 20101123_snps_11754349_chr19_39060280 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39060340C>T;NG_008866.1:g.141001C>T;NM_000540.2:c.13660-907C>T;NM_001042723.1:c.13645-907C>T 465587120 192977176 20101123_snps_11754350_chr19_39060340 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39060406C>T;NG_008866.1:g.141067C>T;NM_000540.2:c.13660-841C>T;NM_001042723.1:c.13645-841C>T 203751110 113860440 BUSHMAN-chr19-43752245 5.00e-04 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060406C>T;NG_008866.1:g.141067C>T;NM_000540.2:c.13660-841C>T;NM_001042723.1:c.13645-841C>T 340454927 113860440 20100804_snps_12098468_chr19_39060406 5.00e-04 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39060536G>T;NG_008866.1:g.141197G>T;NM_000540.2:c.13660-711G>T;NM_001042723.1:c.13645-711G>T 465587121 183543221 20101123_snps_11754351_chr19_39060536 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39060665G>A;NG_008866.1:g.141326G>A;NM_000540.2:c.13660-582G>A;NM_001042723.1:c.13645-582G>A 465587122 188328263 20101123_snps_11754352_chr19_39060665 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39060704T>G;NG_008866.1:g.141365T>G;NM_000540.2:c.13660-543T>G;NM_001042723.1:c.13645-543T>G 340454928 149011665 20100804_snps_12098469_chr19_39060704 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39060842A>G;NG_008866.1:g.141503A>G;NM_000540.2:c.13660-405A>G;NM_001042723.1:c.13645-405A>G 340454929 142961578 20100804_snps_12098470_chr19_39060842 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39060868C>T;NG_008866.1:g.141529C>T;NM_000540.2:c.13660-379C>T;NM_001042723.1:c.13645-379C>T 340454930 151038170 20100804_snps_12098471_chr19_39060868 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39060964C>T;NG_008866.1:g.141625C>T;NM_000540.2:c.13660-283C>T;NM_001042723.1:c.13645-283C>T 203751111 111395089 BUSHMAN-chr19-43752803 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39060984C>T;NG_008866.1:g.141645C>T;NM_000540.2:c.13660-263C>T;NM_001042723.1:c.13645-263C>T 340454931 140915822 20100804_snps_12098472_chr19_39060984 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39061017G>A;NG_008866.1:g.141678G>A;NM_000540.2:c.13660-230G>A;NM_001042723.1:c.13645-230G>A 340454932 145077943 20100804_snps_12098473_chr19_39061017 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39061020C>T;NG_008866.1:g.141681C>T;NM_000540.2:c.13660-227C>T;NM_001042723.1:c.13645-227C>T 465587123 192346674 20101123_snps_11754353_chr19_39061020 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39061040C>T;NG_008866.1:g.141701C>T;NM_000540.2:c.13660-207C>T;NM_001042723.1:c.13645-207C>T 465587124 184730863 20101123_snps_11754354_chr19_39061040 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39061169C>A;NG_008866.1:g.141830C>A;NM_000540.2:c.13660-78C>A;NM_001042723.1:c.13645-78C>A 168184280 111512034 NA07022_36_chr19_43753009 3.85e-02 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061169C>A;NG_008866.1:g.141830C>A;NM_000540.2:c.13660-78C>A;NM_001042723.1:c.13645-78C>A 237674379 111512034 pilot_1_CEU_7279008_chr19_43753009 3.85e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 BL 6261 NC_000019.9:g.39061169C>A;NG_008866.1:g.141830C>A;NM_000540.2:c.13660-78C>A;NM_001042723.1:c.13645-78C>A 255669115 111512034 SNP49769_19_43753009 3.85e-02 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39061169C>A;NG_008866.1:g.141830C>A;NM_000540.2:c.13660-78C>A;NM_001042723.1:c.13645-78C>A 469257103 111512034 Chromosome19_43753009 3.85e-02 2011.08.15 2011.08.15 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061237T>C;NG_008866.1:g.141898T>C;NM_000540.2:c.13660-10T>C;NM_001042723.1:c.13645-10T>C 465587125 188836987 20101123_snps_11754355_chr19_39061237 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061237T>C;NG_008866.1:g.141898T>C;NM_000540.2:c.13660-10T>C;NM_001042723.1:c.13645-10T>C 491158150 188836987 20110521_exome_665948_chr19_39061237 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061238C>G;NG_008866.1:g.141899C>G;NM_000540.2:c.13660-9C>G;NM_001042723.1:c.13645-9C>G 465587126 181794681 20101123_snps_11754356_chr19_39061238 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061238C>G;NG_008866.1:g.141899C>G;NM_000540.2:c.13660-9C>G;NM_001042723.1:c.13645-9C>G 491158151 181794681 20110521_exome_665949_chr19_39061238 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39061245A>T;NG_008866.1:g.141906A>T;NM_000540.2:c.13660-2A>T;NM_001042723.1:c.13645-2A>T 168988906 113062117 Human1M-Duov3_B_GA016306-0_T_R_1533446759 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39061245A>T;NG_008866.1:g.141906A>T;NM_000540.2:c.13660-2A>T;NM_001042723.1:c.13645-2A>T 203751112 113062117 BUSHMAN-chr19-43753084 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 APPLERA_GI 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 48401759 35959206 hCV25953941 3.89e-02 unknown untested 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 168184293 35959206 NA07022_36_chr19_43753098 3.89e-02 unknown untested 2009.09.30 2009.09.30 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 237674380 35959206 pilot_1_CEU_7279009_chr19_43753098 3.89e-02 germline untested 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 BL 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 255669119 35959206 SNP49770_19_43753098 3.89e-02 unknown untested 2010.08.20 2010.08.20 2006.03.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 342496680 35959206 ESP2500-chr19-39061258 3.89e-02 germline untested 2011.03.27 2011.03.27 2006.03.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13671C>G NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 475871700 35959206 RYR1_00066 3.89e-02 germline untested 2011.11.25 2011.11.25 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 483718739 35959206 HumanOmni2.5-4v1_D_kgp6406507-0_B_R_1816008965 3.89e-02 unknown untested 2012.02.03 2012.02.03 2006.03.15 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 483826089 35959206 HumanOmni2.5-4v1_B_SNP19-43753098-0_T_R_1628611785 3.89e-02 germline untested 2012.02.03 2012.02.03 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 491158152 35959206 20110521_exome_665950_chr19_39061258 3.89e-02 unknown untested 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39061258C>G;NG_008866.1:g.141919C>G;NM_000540.2:c.13671C>G;NM_001042723.1:c.13656C>G;NP_000531.2:p.Ser4557=;NP_001036188.1:p.Ser4552= 491766284 35959206 SNV-chr19-43753098 3.89e-02 unknown untested 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13673G>A NC_000019.9:g.39061260G>A;NG_008866.1:g.141921G>A;NM_000540.2:c.13673G>A;NM_001042723.1:c.13658G>A;NP_000531.2:p.Arg4558Gln;NP_001036188.1:p.Arg4553Gln 252444698 118192130 CCORE_22 5.00e-04 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39061260G>A;NG_008866.1:g.141921G>A;NM_000540.2:c.13673G>A;NM_001042723.1:c.13658G>A;NP_000531.2:p.Arg4558Gln;NP_001036188.1:p.Arg4553Gln 342496681 118192130 ESP2500-chr19-39061260 5.00e-04 germline untested 2011.03.27 2011.03.27 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13673G>A NC_000019.9:g.39061260G>A;NG_008866.1:g.141921G>A;NM_000540.2:c.13673G>A;NM_001042723.1:c.13658G>A;NP_000531.2:p.Arg4558Gln;NP_001036188.1:p.Arg4553Gln 475871701 118192130 RYR1_00263 5.00e-04 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061260G>A;NG_008866.1:g.141921G>A;NM_000540.2:c.13673G>A;NM_001042723.1:c.13658G>A;NP_000531.2:p.Arg4558Gln;NP_001036188.1:p.Arg4553Gln 489164689 118192130 20110521_exome_255730_chr19_39061260 5.00e-04 unknown untested 2012.02.14 2012.02.14 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13703T>C NC_000019.9:g.39061290T>C;NG_008866.1:g.141951T>C;NM_000540.2:c.13703T>C;NM_001042723.1:c.13688T>C;NP_000531.2:p.Leu4568Pro;NP_001036188.1:p.Leu4563Pro 252444699 118192131 CCORE_23 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13703T>C NC_000019.9:g.39061290T>C;NG_008866.1:g.141951T>C;NM_000540.2:c.13703T>C;NM_001042723.1:c.13688T>C;NP_000531.2:p.Leu4568Pro;NP_001036188.1:p.Leu4563Pro 475871702 118192131 RYR1_00243 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061374A>G;NG_008866.1:g.142035A>G;NM_000540.2:c.13746+41A>G;NM_001042723.1:c.13731+41A>G 340454933 138865010 20100804_snps_12098474_chr19_39061374 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061374A>G;NG_008866.1:g.142035A>G;NM_000540.2:c.13746+41A>G;NM_001042723.1:c.13731+41A>G 491158153 138865010 20110521_exome_665951_chr19_39061374 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39061438G>A;NG_008866.1:g.142099G>A;NM_000540.2:c.13746+105G>A;NM_001042723.1:c.13731+105G>A 465587127 187118912 20101123_snps_11754357_chr19_39061438 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39061599C>T;NG_008866.1:g.142260C>T;NM_000540.2:c.13746+266C>T;NM_001042723.1:c.13731+266C>T 340454934 140356628 20100804_snps_12098475_chr19_39061599 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39061891C>G;NG_008866.1:g.142552C>G;NM_000540.2:c.13746+558C>G;NM_001042723.1:c.13731+558C>G 465587128 189489603 20101123_snps_11754358_chr19_39061891 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39062054A>G;NG_008866.1:g.142715A>G;NM_000540.2:c.13747-605A>G;NM_001042723.1:c.13732-605A>G 340454935 145435491 20100804_snps_12098476_chr19_39062054 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39062102G>A;NG_008866.1:g.142763G>A;NM_000540.2:c.13747-557G>A;NM_001042723.1:c.13732-557G>A 465587129 181593956 20101123_snps_11754359_chr19_39062102 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39062263G>T;NG_008866.1:g.142924G>T;NM_000540.2:c.13747-396G>T;NM_001042723.1:c.13732-396G>T 203751113 112775260 BUSHMAN-chr19-43754102 6.40e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062263G>T;NG_008866.1:g.142924G>T;NM_000540.2:c.13747-396G>T;NM_001042723.1:c.13732-396G>T 340454936 112775260 20100804_snps_12098477_chr19_39062263 6.40e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 KYUGEN 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 28459017 16972718 QH03783 8.06e-02 2004.07.07 2004.08.05 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 208403278 16972718 BCM_CMT_1011-3092005 8.06e-02 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 211962670 16972718 YRI.trio.3.2010_1440272_chr19_43754226 8.06e-02 2010.03.31 2010.03.31 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 228135992 16972718 pilot_1_YRI_9945675_chr19_43754226 8.06e-02 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 237674381 16972718 pilot_1_CEU_7279010_chr19_43754226 8.06e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 243881165 16972718 pilot_1_CHB+JPT_5766242_chr19_43754226 8.06e-02 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 BL 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 255669124 16972718 SNP49771_19_43754226 8.06e-02 2010.08.20 2010.08.20 2004.09.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39062386T>A;NG_008866.1:g.143047T>A;NM_000540.2:c.13747-273T>A;NM_001042723.1:c.13732-273T>A 283206229 16972718 GMI_AK_SNP_7526650 8.06e-02 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062393A>G;NG_008866.1:g.143054A>G;NM_000540.2:c.13747-266A>G;NM_001042723.1:c.13732-266A>G 465587130 185278862 20101123_snps_11754360_chr19_39062393 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39062408C>A;NG_008866.1:g.143069C>A;NM_000540.2:c.13747-251C>A;NM_001042723.1:c.13732-251C>A 228135993 114276779 pilot_1_YRI_9945676_chr19_43754248 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ABI 6261 NC_000019.9:g.39062413delG;NG_008866.1:g.143074delG;NM_000540.2:c.13747-246delG;NM_001042723.1:c.13732-246delG 41045415 35580815 hCV32823650 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39062469A>G;NG_008866.1:g.143130A>G;NM_000540.2:c.13747-190A>G;NM_001042723.1:c.13732-190A>G 340454937 149541947 20100804_snps_12098478_chr19_39062469 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39062522A>G;NG_008866.1:g.143183A>G;NM_000540.2:c.13747-137A>G;NM_001042723.1:c.13732-137A>G 465587131 189881291 20101123_snps_11754361_chr19_39062522 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 6261 NC_000019.9:g.39062672C>T;NG_008866.1:g.143333C>T;NM_000540.2:c.13760C>T;NM_001042723.1:c.13745C>T;NP_000531.2:p.Pro4587Leu;NP_001036188.1:p.Pro4582Leu 342496682 143520367 ESP2500-chr19-39062672 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39062685C>T;NG_008866.1:g.143346C>T;NM_000540.2:c.13773C>T;NM_001042723.1:c.13758C>T;NP_000531.2:p.Asp4591=;NP_001036188.1:p.Asp4586= 203751114 111578044 BUSHMAN-chr19-43754524 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39062685C>T;NG_008866.1:g.143346C>T;NM_000540.2:c.13773C>T;NM_001042723.1:c.13758C>T;NP_000531.2:p.Asp4591=;NP_001036188.1:p.Asp4586= 491766285 111578044 SNV-chr19-43754525 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062688C>T;NG_008866.1:g.143349C>T;NM_000540.2:c.13776C>T;NM_001042723.1:c.13761C>T;NP_000531.2:p.Asp4592=;NP_001036188.1:p.Asp4587= 489164691 200427549 20110521_exome_255731_chr19_39062688 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 HGSV 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 85458406 59468283 Cor19129_SNV_20070510.chr19_43754599 9.00e-04 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 159739646 59468283 RYR1-43754599 9.00e-04 2009.07.10 2009.07.10 2007.12.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 342496683 59468283 ESP2500-chr19-39062759 9.00e-04 2011.03.27 2011.03.27 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 465587132 59468283 20101123_snps_11754362_chr19_39062759 9.00e-04 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 491158154 59468283 20110521_exome_665952_chr19_39062759 9.00e-04 2012.02.22 2012.02.22 2007.12.15 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39062759C>A;NG_008866.1:g.143420C>A;NM_000540.2:c.13847C>A;NM_001042723.1:c.13832C>A;NP_000531.2:p.Ala4616Asp;NP_001036188.1:p.Ala4611Asp 491546518 59468283 nonsyn_262744_chr_19_39062759 9.00e-04 2012.03.06 2012.03.06 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062761G>A;NG_008866.1:g.143422G>A;NM_000540.2:c.13849G>A;NM_001042723.1:c.13834G>A;NP_000531.2:p.Gly4617Arg;NP_001036188.1:p.Gly4612Arg 489164693 202226983 20110521_exome_255732_chr19_39062761 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39062761G>A;NG_008866.1:g.143422G>A;NM_000540.2:c.13849G>A;NM_001042723.1:c.13834G>A;NP_000531.2:p.Gly4617Arg;NP_001036188.1:p.Gly4612Arg 491546519 202226983 nonsyn_262745_chr_19_39062761 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39062775G>A;NG_008866.1:g.143436G>A;NM_000540.2:c.13863G>A;NM_001042723.1:c.13848G>A;NP_000531.2:p.Glu4621=;NP_001036188.1:p.Glu4616= 342496684 140750876 ESP2500-chr19-39062775 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39062775G>A;NG_008866.1:g.143436G>A;NM_000540.2:c.13863G>A;NM_001042723.1:c.13848G>A;NP_000531.2:p.Glu4621=;NP_001036188.1:p.Glu4616= 465587133 140750876 20101123_snps_11754363_chr19_39062775 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 GENEREVIEWS 6261 NM_000540.2:c.13891T>A NC_000019.9:g.39062803T>A;NG_008866.1:g.143464T>A;NM_000540.2:c.13891T>A;NM_001042723.1:c.13876T>A;NP_000531.2:p.Tyr4631Asn;NP_001036188.1:p.Tyr4626Asn 252444700 118192132 CCORE_24 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13891T>A NC_000019.9:g.39062803T>A;NG_008866.1:g.143464T>A;NM_000540.2:c.13891T>A;NM_001042723.1:c.13876T>A;NP_000531.2:p.Tyr4631Asn;NP_001036188.1:p.Tyr4626Asn 475871703 118192132 RYR1_00244 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13900G>A NC_000019.9:g.39062812G>A;NG_008866.1:g.143473G>A;NM_000540.2:c.13900G>A;NM_001042723.1:c.13885G>A;NP_000531.2:p.Glu4634Lys;NP_001036188.1:p.Glu4629Lys 252444701 118192133 CCORE_25 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13900G>A NC_000019.9:g.39062812G>A;NG_008866.1:g.143473G>A;NM_000540.2:c.13900G>A;NM_001042723.1:c.13885G>A;NP_000531.2:p.Glu4634Lys;NP_001036188.1:p.Glu4629Lys 475871704 118192133 RYR1_00245 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13909A>G NC_000019.9:g.39062821A>G;NG_008866.1:g.143482A>G;NM_000540.2:c.13909A>G;NM_001042723.1:c.13894A>G;NP_000531.2:p.Thr4637Ala;NP_001036188.1:p.Thr4632Ala 252444735 118192166 CCORE_72 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.THR4637ALA NC_000019.9:g.39062821A>G;NG_008866.1:g.143482A>G;NM_000540.2:c.13909A>G;NM_001042723.1:c.13894A>G;NP_000531.2:p.Thr4637Ala;NP_001036188.1:p.Thr4632Ala 275518449 118192166 5325 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.13909A>G NC_000019.9:g.39062821A>G;NG_008866.1:g.143482A>G;NM_000540.2:c.13909A>G;NM_001042723.1:c.13894A>G;NP_000531.2:p.Thr4637Ala;NP_001036188.1:p.Thr4632Ala 475871705 118192166 RYR1_00206 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.13910C>T NC_000019.9:g.39062822C>T;NG_008866.1:g.143483C>T;NM_000540.2:c.13910C>T;NM_001042723.1:c.13895C>T;NP_000531.2:p.Thr4637Ile;NP_001036188.1:p.Thr4632Ile 252444702 118192134 CCORE_26 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13910C>T NC_000019.9:g.39062822C>T;NG_008866.1:g.143483C>T;NM_000540.2:c.13910C>T;NM_001042723.1:c.13895C>T;NP_000531.2:p.Thr4637Ile;NP_001036188.1:p.Thr4632Ile 475871706 118192134 RYR1_00164 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13912G>A NC_000019.9:g.39062824G>A;NG_008866.1:g.143485G>A;NM_000540.2:c.13912G>A;NM_001042723.1:c.13897G>A;NP_000531.2:p.Gly4638Ser;NP_001036188.1:p.Gly4633Ser 252444704 118192136 CCORE_29 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13912G>A NC_000019.9:g.39062824G>A;NG_008866.1:g.143485G>A;NM_000540.2:c.13912G>A;NM_001042723.1:c.13897G>A;NP_000531.2:p.Gly4638Ser;NP_001036188.1:p.Gly4633Ser 475871707 118192136 RYR1_00246 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13913G>A NC_000019.9:g.39062825G>A;NG_008866.1:g.143486G>A;NM_000540.2:c.13913G>A;NM_001042723.1:c.13898G>A;NP_000531.2:p.Gly4638Asp;NP_001036188.1:p.Gly4633Asp 252444703 118192135 CCORE_27 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13913G>A NC_000019.9:g.39062825G>A;NG_008866.1:g.143486G>A;NM_000540.2:c.13913G>A;NM_001042723.1:c.13898G>A;NP_000531.2:p.Gly4638Asp;NP_001036188.1:p.Gly4633Asp 475871708 118192135 RYR1_00075 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062839G>A;NG_008866.1:g.143500G>A;NM_000540.2:c.13927G>A;NM_001042723.1:c.13912G>A;NP_000531.2:p.Ala4643Thr;NP_001036188.1:p.Ala4638Thr 489164694 200286252 20110521_exome_255733_chr19_39062839 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39062844G>T;NG_008866.1:g.143505G>T;NM_000540.2:c.13932G>T;NM_001042723.1:c.13917G>T;NP_000531.2:p.Leu4644=;NP_001036188.1:p.Leu4639= 489164696 199698011 20110521_exome_255734_chr19_39062844 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39062844G>T;NG_008866.1:g.143505G>T;NM_000540.2:c.13932G>T;NM_001042723.1:c.13917G>T;NP_000531.2:p.Leu4644=;NP_001036188.1:p.Leu4639= 491546520 199698011 synctl_262746_chr_19_39062844 5.00e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13934G>A NC_000019.9:g.39062846G>A;NG_008866.1:g.143507G>A;NM_000540.2:c.13934G>A;NM_001042723.1:c.13919G>A;NP_000531.2:p.Arg4645Gln;NP_001036188.1:p.Arg4640Gln 475871709 193922860 RYR1_00227 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.13939_13944del NC_000019.9:g.39062851_39062856delCTGAGC;NG_008866.1:g.143512_143517delCTGAGC;NM_000540.2:c.13939_13944delCTGAGC;NM_001042723.1:c.13924_13929delCTGAGC;NP_000531.2:p.Leu4647_Ser4648del;NP_001036188.1:p.Leu4642_Ser4643del 252444705 118192137 CCORE_30 untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.13941_13946del NC_000019.9:g.39062853_39062858delGAGCCT;NG_008866.1:g.143514_143519delGAGCCT;NM_000540.2:c.13941_13946delGAGCCT;NM_001042723.1:c.13926_13931delGAGCCT;NP_000531.2:p.Leu4647_Leu4649delinsLeu;NP_001036188.1:p.Leu4642_Leu4644delinsLeu 475871710 193922861 RYR1_00239 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.13949T>C NC_000019.9:g.39062861T>C;NG_008866.1:g.143522T>C;NM_000540.2:c.13949T>C;NM_001042723.1:c.13934T>C;NP_000531.2:p.Leu4650Pro;NP_001036188.1:p.Leu4645Pro 252444706 118192138 CCORE_31 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13949T>C NC_000019.9:g.39062861T>C;NG_008866.1:g.143522T>C;NM_000540.2:c.13949T>C;NM_001042723.1:c.13934T>C;NP_000531.2:p.Leu4650Pro;NP_001036188.1:p.Leu4645Pro 475871711 118192138 RYR1_00030 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.13952A>C NC_000019.9:g.39062864A>C;NG_008866.1:g.143525A>C;NM_000540.2:c.13952A>C;NM_001042723.1:c.13937A>C;NP_000531.2:p.His4651Pro;NP_001036188.1:p.His4646Pro 252444707 118192139 CCORE_32 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13952A>C NC_000019.9:g.39062864A>C;NG_008866.1:g.143525A>C;NM_000540.2:c.13952A>C;NM_001042723.1:c.13937A>C;NP_000531.2:p.His4651Pro;NP_001036188.1:p.His4646Pro 475871712 118192139 RYR1_00165 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.13994_13995delinsCT NC_000019.9:g.39062906_39062907delTCinsCT;NG_008866.1:g.143567_143568delTCinsCT;NM_000540.2:c.13994_13995delTCinsCT;NM_001042723.1:c.13979_13980delTCinsCT;NP_000531.2:p.Leu4665Pro;NP_001036188.1:p.Leu4660Pro 475871713 193922862 RYR1_00291 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39062964G>A;NG_008866.1:g.143625G>A;NM_000540.2:c.13998+54G>A;NM_001042723.1:c.13983+54G>A 465587134 191691180 20101123_snps_11754364_chr19_39062964 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39063049G>A;NG_008866.1:g.143710G>A;NM_000540.2:c.13998+139G>A;NM_001042723.1:c.13983+139G>A 340454938 144093602 20100804_snps_12098479_chr19_39063049 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 78849645 56366421 Cor18507_SNV_20070510.chr19_43754915 2.20e-02 2007.10.21 2007.10.21 2007.12.07 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 115121097 56366421 NA19240_2008_12_16_3257678_chr19_43754915 2.20e-02 2008.12.19 2008.12.19 2007.12.07 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 117702741 56366421 NA18507_000043959_NCBI36.1_chr19_43754915 2.20e-02 2009.01.20 2009.01.20 2007.12.07 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 169709359 56366421 NA19240_36_chr19_43754915 2.20e-02 2009.10.01 2009.10.01 2007.12.07 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 203751115 56366421 BUSHMAN-chr19-43754914 2.20e-02 2010.03.09 2010.03.09 2007.12.07 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063075A>G;NG_008866.1:g.143736A>G;NM_000540.2:c.13998+165A>G;NM_001042723.1:c.13983+165A>G 228135995 56366421 pilot_1_YRI_9945678_chr19_43754915 2.20e-02 2010.04.22 2010.04.22 2007.12.07 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063088G>A;NG_008866.1:g.143749G>A;NM_000540.2:c.13998+178G>A;NM_001042723.1:c.13983+178G>A 465587135 183356582 20101123_snps_11754365_chr19_39063088 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39063094T>G;NG_008866.1:g.143755T>G;NM_000540.2:c.13998+184T>G;NM_001042723.1:c.13983+184T>G 243881166 78674720 pilot_1_CHB+JPT_5766243_chr19_43754934 1.92e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39063105C>T;NG_008866.1:g.143766C>T;NM_000540.2:c.13998+195C>T;NM_001042723.1:c.13983+195C>T 340454939 148196019 20100804_snps_12098480_chr19_39063105 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 6261 NC_000019.9:g.39063156G>A;NG_008866.1:g.143817G>A;NM_000540.2:c.13998+246G>A;NM_001042723.1:c.13983+246G>A 90970038 62120349 JWB-2965869 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39063156G>A;NG_008866.1:g.143817G>A;NM_000540.2:c.13998+246G>A;NM_001042723.1:c.13983+246G>A 137670654 62120349 ENSSNP6323378 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063221T>G;NG_008866.1:g.143882T>G;NM_000540.2:c.13998+311T>G;NM_001042723.1:c.13983+311T>G 228135996 77403332 pilot_1_YRI_9945679_chr19_43755061 6.00e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 ABI 6261 NC_000019.9:g.39063584_39063585insC;NG_008866.1:g.144245_144246insC;NM_000540.2:c.13999-233_13999-232insC;NM_001042723.1:c.13984-233_13984-232insC 41039428 34880215 hCV32823652 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39063600C>T;NG_008866.1:g.144261C>T;NM_000540.2:c.13999-217C>T;NM_001042723.1:c.13984-217C>T 96305738 71356813 1103691141974 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063619G>C;NG_008866.1:g.144280G>C;NM_000540.2:c.13999-198G>C;NM_001042723.1:c.13984-198G>C 243881167 117175310 pilot_1_CHB+JPT_5766244_chr19_43755459 5.54e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39063670C>T;NG_008866.1:g.144331C>T;NM_000540.2:c.13999-147C>T;NM_001042723.1:c.13984-147C>T 96305739 71356814 1103691141975 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39063721C>T;NG_008866.1:g.144382C>T;NM_000540.2:c.13999-96C>T;NM_001042723.1:c.13984-96C>T 465587136 188765073 20101123_snps_11754366_chr19_39063721 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 6261 NC_000019.9:g.39063737C>A;NG_008866.1:g.144398C>A;NM_000540.2:c.13999-80C>A;NM_001042723.1:c.13984-80C>A 491766286 201193928 SNV-chr19-43755577 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39063750C>T;NG_008866.1:g.144411C>T;NM_000540.2:c.13999-67C>T;NM_001042723.1:c.13984-67C>T 491766287 202247361 SNV-chr19-43755590 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063776A>G;NG_008866.1:g.144437A>G;NM_000540.2:c.13999-41A>G;NM_001042723.1:c.13984-41A>G 340454940 141144440 20100804_snps_12098481_chr19_39063776 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063776A>G;NG_008866.1:g.144437A>G;NM_000540.2:c.13999-41A>G;NM_001042723.1:c.13984-41A>G 491158155 141144440 20110521_exome_665953_chr19_39063776 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063786C>T;NG_008866.1:g.144447C>T;NM_000540.2:c.13999-31C>T;NM_001042723.1:c.13984-31C>T 489164699 199659950 20110521_exome_255735_chr19_39063786 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14002C>T NC_000019.9:g.39063820C>T;NG_008866.1:g.144481C>T;NM_000540.2:c.14002C>T;NM_001042723.1:c.13987C>T;NP_000531.2:p.Pro4668Ser;NP_001036188.1:p.Pro4663Ser 475871714 193922863 RYR1_00192 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14051T>C NC_000019.9:g.39063869T>C;NG_008866.1:g.144530T>C;NM_000540.2:c.14051T>C;NM_001042723.1:c.14036T>C;NP_000531.2:p.Phe4684Ser;NP_001036188.1:p.Phe4679Ser 475871715 193922864 RYR1_00151 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39063879G>A;NG_008866.1:g.144540G>A;NM_000540.2:c.14061G>A;NM_001042723.1:c.14046G>A;NP_000531.2:p.Leu4687=;NP_001036188.1:p.Leu4682= 489164701 201629205 20110521_exome_255736_chr19_39063879 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39063888G>A;NG_008866.1:g.144549G>A;NM_000540.2:c.14070G>A;NM_001042723.1:c.14055G>A;NP_000531.2:p.Thr4690=;NP_001036188.1:p.Thr4685= 203751116 113058779 BUSHMAN-chr19-43755727 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39063888G>A;NG_008866.1:g.144549G>A;NM_000540.2:c.14070G>A;NM_001042723.1:c.14055G>A;NP_000531.2:p.Thr4690=;NP_001036188.1:p.Thr4685= 342496685 113058779 ESP2500-chr19-39063888 2011.03.27 2011.03.27 2010.07.04 2011.07.08 137 NHLBI-ESP 6261 NC_000019.9:g.39063909C>T;NG_008866.1:g.144570C>T;NM_000540.2:c.14091C>T;NM_001042723.1:c.14076C>T;NP_000531.2:p.Asp4697=;NP_001036188.1:p.Asp4692= 342496686 138616455 ESP2500-chr19-39063909 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.14126C>T NC_000019.9:g.39063944C>T;NG_008866.1:g.144605C>T;NM_000540.2:c.14126C>T;NM_001042723.1:c.14111C>T;NP_000531.2:p.Thr4709Met;NP_001036188.1:p.Thr4704Met 252444708 118192140 CCORE_33 5.00e-04 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14126C>T NC_000019.9:g.39063944C>T;NG_008866.1:g.144605C>T;NM_000540.2:c.14126C>T;NM_001042723.1:c.14111C>T;NP_000531.2:p.Thr4709Met;NP_001036188.1:p.Thr4704Met 475871716 118192140 RYR1_00288 5.00e-04 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063944C>T;NG_008866.1:g.144605C>T;NM_000540.2:c.14126C>T;NM_001042723.1:c.14111C>T;NP_000531.2:p.Thr4709Met;NP_001036188.1:p.Thr4704Met 489164703 118192140 20110521_exome_255737_chr19_39063944 5.00e-04 unknown untested 2012.02.14 2012.02.14 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39063948G>A;NG_008866.1:g.144609G>A;NM_000540.2:c.14129+1G>A;NM_001042723.1:c.14114+1G>A 342496687 142929172 ESP2500-chr19-39063948 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39063950A>C;NC_000019.9:g.39063950A>G;NG_008866.1:g.144611A>C;NG_008866.1:g.144611A>G;NM_000540.2:c.14129+3A>C;NM_000540.2:c.14129+3A>G;NM_001042723.1:c.14114+3A>C;NM_001042723.1:c.14114+3A>G 168988913 111906106 Human1M-Duov3_B_GA016307-0_T_F_1533441859 5.00e-04 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063950A>C;NC_000019.9:g.39063950A>G;NG_008866.1:g.144611A>C;NG_008866.1:g.144611A>G;NM_000540.2:c.14129+3A>C;NM_000540.2:c.14129+3A>G;NM_001042723.1:c.14114+3A>C;NM_001042723.1:c.14114+3A>G 489164705 111906106 20110521_exome_255738_chr19_39063950 5.00e-04 2012.02.14 2012.02.14 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39063972G>A;NG_008866.1:g.144633G>A;NM_000540.2:c.14129+25G>A;NM_001042723.1:c.14114+25G>A 489164707 202235215 20110521_exome_255739_chr19_39063972 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39064012G>A;NG_008866.1:g.144673G>A;NM_000540.2:c.14129+65G>A;NM_001042723.1:c.14114+65G>A 208566769 113379824 BCM_CMT_1011-3146965 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39064027A>T;NG_008866.1:g.144688A>T;NM_000540.2:c.14129+80A>T;NM_001042723.1:c.14114+80A>T 340454941 147390071 20100804_snps_12098482_chr19_39064027 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39064044G>A;NG_008866.1:g.144705G>A;NM_000540.2:c.14129+97G>A;NM_001042723.1:c.14114+97G>A 203751117 111752865 BUSHMAN-chr19-43755883 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39064050G>A;NG_008866.1:g.144711G>A;NM_000540.2:c.14129+103G>A;NM_001042723.1:c.14114+103G>A 340454942 139534731 20100804_snps_12098483_chr19_39064050 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39064148C>T;NG_008866.1:g.144809C>T;NM_000540.2:c.14129+201C>T;NM_001042723.1:c.14114+201C>T 340454943 144856347 20100804_snps_12098484_chr19_39064148 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39064153C>G;NG_008866.1:g.144814C>G;NM_000540.2:c.14129+206C>G;NM_001042723.1:c.14114+206C>G 465587137 192690034 20101123_snps_11754367_chr19_39064153 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39064181G>A;NG_008866.1:g.144842G>A;NM_000540.2:c.14129+234G>A;NM_001042723.1:c.14114+234G>A 465587138 182567398 20101123_snps_11754368_chr19_39064181 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39064193G>A;NG_008866.1:g.144854G>A;NM_000540.2:c.14129+246G>A;NM_001042723.1:c.14114+246G>A 340454944 147516633 20100804_snps_12098485_chr19_39064193 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39064297G>A;NG_008866.1:g.144958G>A;NM_000540.2:c.14129+350G>A;NM_001042723.1:c.14114+350G>A 465587139 186479365 20101123_snps_11754369_chr19_39064297 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39064328C>A;NG_008866.1:g.144989C>A;NM_000540.2:c.14129+381C>A;NM_001042723.1:c.14114+381C>A 465587140 191374729 20101123_snps_11754370_chr19_39064328 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 6261 NC_000019.9:g.39064334_39064336delAAA;NG_008866.1:g.144995_144997delAAA;NM_000540.2:c.14129+387_14129+389delAAA;NM_001042723.1:c.14114+387_14114+389delAAA 103616575 75549330 JWB-4066196 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39064346A>C;NG_008866.1:g.145007A>C;NM_000540.2:c.14129+399A>C;NM_001042723.1:c.14114+399A>C 137670657 78357350 ENSSNP11444426 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 ENSEMBL 6261 NC_000019.9:g.39064348C>T;NG_008866.1:g.145009C>T;NM_000540.2:c.14129+401C>T;NM_001042723.1:c.14114+401C>T 137670661 80340479 ENSSNP11444427 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39064551C>A;NG_008866.1:g.145212C>A;NM_000540.2:c.14129+604C>A;NM_001042723.1:c.14114+604C>A 203751118 112358948 BUSHMAN-chr19-43756390 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39064581T>C;NG_008866.1:g.145242T>C;NM_000540.2:c.14129+634T>C;NM_001042723.1:c.14114+634T>C 465587141 184583844 20101123_snps_11754371_chr19_39064581 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39064609G>A;NG_008866.1:g.145270G>A;NM_000540.2:c.14129+662G>A;NM_001042723.1:c.14114+662G>A 465587142 190326740 20101123_snps_11754372_chr19_39064609 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39064815_39064816insG;NG_008866.1:g.145476_145477insG;NM_000540.2:c.14129+868_14129+869insG;NM_001042723.1:c.14114+868_14114+869insG 41026201 35877537 hCV32823654 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39064848C>T;NG_008866.1:g.145509C>T;NM_000540.2:c.14129+901C>T;NM_001042723.1:c.14114+901C>T 203751119 113939701 BUSHMAN-chr19-43756687 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 PJP 6261 NC_000019.9:g.39064861C>T;NG_008866.1:g.145522C>T;NM_000540.2:c.14129+914C>T;NM_001042723.1:c.14114+914C>T 292248573 141567189 SNP_1754931_chr19_43756701 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.39064897C>T;NG_008866.1:g.145558C>T;NM_000540.2:c.14129+950C>T;NM_001042723.1:c.14114+950C>T 17626223 11883059 CSHL-HuCC-200402.chr19.NT_011109.15_11333115 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.39064897C>T;NG_008866.1:g.145558C>T;NM_000540.2:c.14129+950C>T;NM_001042723.1:c.14114+950C>T 78537757 11883059 Cor18507_SNV_20070510.chr19_43756737 2007.10.19 2007.10.19 2004.02.28 2011.09.09 137 HGSV 6261 NC_000019.9:g.39064897C>T;NG_008866.1:g.145558C>T;NM_000540.2:c.14129+950C>T;NM_001042723.1:c.14114+950C>T 81714152 11883059 Cor18956_SNV_20070510.chr19_43756737 2007.12.01 2007.12.01 2004.02.28 2011.09.09 137 PJP 6261 NC_000019.9:g.39064897C>T;NG_008866.1:g.145558C>T;NM_000540.2:c.14129+950C>T;NM_001042723.1:c.14114+950C>T 292248574 11883059 SNP_1754932_chr19_43756737 2011.01.21 2011.01.21 2004.02.28 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39064933_39064934insA;NG_008866.1:g.145594_145595insA;NM_000540.2:c.14129+986_14129+987insA;NM_001042723.1:c.14114+986_14114+987insA 193510371 113641653 BUSHMAN-chr19-43756773-43756773 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 HGSV 6261 NC_000019.9:g.39064934_39064935insA;NC_000019.9:g.39064934_39064935insAA;NG_008866.1:g.145595_145596insA;NG_008866.1:g.145595_145596insAA;NM_000540.2:c.14129+987_14129+988insA;NM_000540.2:c.14129+987_14129+988insAA;NM_001042723.1:c.14114+987_14114+988insA;NM_001042723.1:c.14114+987_14114+988insAA 81876879 61299111 Cor18555_DIV_20070510.chr19_43756785-43756786_1 2007.12.01 2007.12.01 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.39064934_39064935insA;NC_000019.9:g.39064934_39064935insAA;NG_008866.1:g.145595_145596insA;NG_008866.1:g.145595_145596insAA;NM_000540.2:c.14129+987_14129+988insA;NM_000540.2:c.14129+987_14129+988insAA;NM_001042723.1:c.14114+987_14114+988insA;NM_001042723.1:c.14114+987_14114+988insAA 289387923 61299111 GMI_AK_INDEL_1065380 2010.12.30 2011.12.30 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065037C>G;NG_008866.1:g.145698C>G;NM_000540.2:c.14129+1090C>G;NM_001042723.1:c.14114+1090C>G 465587143 193282461 20101123_snps_11754373_chr19_39065037 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39065095_39065096insA;NG_008866.1:g.145756_145757insA;NM_000540.2:c.14129+1148_14129+1149insA;NM_001042723.1:c.14114+1148_14114+1149insA 499576486 199854545 20110316_indels_chr19_39065095_39065096 2.88e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065118C>A;NG_008866.1:g.145779C>A;NM_000540.2:c.14129+1171C>A;NM_001042723.1:c.14114+1171C>A 228135998 116012071 pilot_1_YRI_9945681_chr19_43756958 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39065141G>A;NG_008866.1:g.145802G>A;NM_000540.2:c.14129+1194G>A;NM_001042723.1:c.14114+1194G>A 465587144 185158262 20101123_snps_11754374_chr19_39065141 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39065185T>C;NG_008866.1:g.145846T>C;NM_000540.2:c.14129+1238T>C;NM_001042723.1:c.14114+1238T>C 340454945 139335689 20100804_snps_12098486_chr19_39065185 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39065435T>C;NG_008866.1:g.146096T>C;NM_000540.2:c.14130-1124T>C;NM_001042723.1:c.14115-1124T>C 85697538 57231127 Cor19129_SNV_20070510.chr19_43757275 1.60e-02 2007.12.10 2007.12.10 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065435T>C;NG_008866.1:g.146096T>C;NM_000540.2:c.14130-1124T>C;NM_001042723.1:c.14115-1124T>C 340454946 57231127 20100804_snps_12098487_chr19_39065435 1.60e-02 2011.03.22 2011.03.22 2007.12.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065494A>G;NG_008866.1:g.146155A>G;NM_000540.2:c.14130-1065A>G;NM_001042723.1:c.14115-1065A>G 340454947 145402660 20100804_snps_12098488_chr19_39065494 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39065544G>A;NG_008866.1:g.146205G>A;NM_000540.2:c.14130-1015G>A;NM_001042723.1:c.14115-1015G>A 340454948 149151003 20100804_snps_12098489_chr19_39065544 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 15682469 10853716 NT_011109.15_11333766 1.58e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 17619416 10853716 CSHL-HuCC-200402.chr19.NT_011109.15_11333766 1.58e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 18803525 10853716 SC-CHR9-12_NA17119-200402.chr19.NT_011109.15_11333766 1.58e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 41014387 10853716 hCV26218752 1.58e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 85821004 10853716 Cor19129_SNV_20070510.chr19_43757388 1.58e-01 2007.12.10 2007.12.10 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 161878528 10853716 ENSSNP1527988 1.58e-01 2009.09.26 2010.03.07 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 169709382 10853716 NA19240_36_chr19_43757388 1.58e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 292248575 10853716 SNP_1754933_chr19_43757388 1.58e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 340454949 10853716 20100804_snps_12098490_chr19_39065548 1.58e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.39065548T>C;NG_008866.1:g.146209T>C;NM_000540.2:c.14130-1011T>C;NM_001042723.1:c.14115-1011T>C 475843582 10853716 GMI_AK_SNP_8512080 1.58e-01 2011.11.24 2011.11.24 2004.02.27 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 15682470 10853717 NT_011109.15_11333806 3.23e-01 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 17626636 10853717 CSHL-HuCC-200402.chr19.NT_011109.15_11333806 3.23e-01 2004.02.19 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 18803776 10853717 SC-CHR9-12_NA17119-200402.chr19.NT_011109.15_11333806 3.23e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SSAHASNP 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 21548209 10853717 WGSA-200403-chr19.chr19.NT_011109.15_11333806 3.23e-01 2004.03.20 2004.03.20 2004.02.27 2012.11.28 137 ABI 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 40976545 10853717 hCV41041 3.23e-01 2005.07.17 2005.07.17 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 83111534 10853717 Cor18555_SNV_20070510.chr19_43757428 3.23e-01 2007.12.04 2007.12.04 2004.02.27 2012.11.28 137 HGSV 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 85455788 10853717 Cor19129_SNV_20070510.chr19_43757428 3.23e-01 2007.12.09 2007.12.09 2004.02.27 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 90970040 10853717 JWB-1168242 3.23e-01 2008.03.01 2008.03.01 2004.02.27 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 96305740 10853717 1103691141978 3.23e-01 2008.03.26 2008.03.26 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 132762506 10853717 ENSSNP1527989 3.23e-01 2009.05.12 2010.03.07 2004.02.27 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 137670663 10853717 ENSSNP6191278 3.23e-01 2009.05.16 2009.05.16 2004.02.27 2012.11.28 137 BL 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 255669129 10853717 SNP49772_19_43757428 3.23e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 283206230 10853717 GMI_AK_SNP_7526651 3.23e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 292248576 10853717 SNP_1754934_chr19_43757428 3.23e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065588A>G;NG_008866.1:g.146249A>G;NM_000540.2:c.14130-971A>G;NM_001042723.1:c.14115-971A>G 340454950 10853717 20100804_snps_12098491_chr19_39065588 3.23e-01 2011.03.22 2011.03.22 2004.02.27 2012.11.28 137 MPI_MOLGEN 6261 NC_000019.9:g.39065644C>T;NG_008866.1:g.146305C>T;NM_000540.2:c.14130-915C>T;NM_001042723.1:c.14115-915C>T 469257104 190710885 Chromosome19_43757484 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 1000GENOMES 6261 NC_000019.9:g.39065675G>A;NG_008866.1:g.146336G>A;NM_000540.2:c.14130-884G>A;NM_001042723.1:c.14115-884G>A 465587145 190401971 20101123_snps_11754375_chr19_39065675 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 41006470 35261562 hCV26218753 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 HGSV 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 82218783 35261562 Cor19129_DIV_20070510.chr19_43757536-43757538_1 2007.12.02 2007.12.02 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 95728355 35261562 1104685411630 2008.03.23 2008.12.03 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 96281052 35261562 1103691141979 2008.03.26 2008.03.26 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 100320507 35261562 INDEL_GP36_2008a_1547728_0 2008.05.16 2008.05.16 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 102257739 35261562 INDEL_GP36_2008a_1205431_0 2008.05.18 2008.05.18 2006.03.15 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 102570660 35261562 INDEL_GP36_2008a_2662975_0 2008.05.18 2008.05.18 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 294962555 35261562 DIP_400259_chr19_43757520 2011.01.22 2011.01.22 2006.03.15 2012.11.28 137 PJP 6261 NC_000019.9:g.39065680delA;NG_008866.1:g.146341delA;NM_000540.2:c.14130-879delA;NM_001042723.1:c.14115-879delA 294962556 35261562 DIP_400260_chr19_43757537 2011.01.22 2011.01.22 2006.03.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39065681A>C;NG_008866.1:g.146342A>C;NM_000540.2:c.14130-878A>C;NM_001042723.1:c.14115-878A>C 137670666 76052055 ENSSNP11444429 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39065697A>C;NG_008866.1:g.146358A>C;NM_000540.2:c.14130-862A>C;NM_001042723.1:c.14115-862A>C 137670669 76855655 ENSSNP11444430 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39065701_39065703delGTT;NG_008866.1:g.146362_146364delGTT;NM_000540.2:c.14130-858_14130-856delGTT;NM_001042723.1:c.14115-858_14115-856delGTT 328276265 145031682 YRI_chr19_43757540_indel 1.74e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065701_39065703delGTT;NG_008866.1:g.146362_146364delGTT;NM_000540.2:c.14130-858_14130-856delGTT;NM_001042723.1:c.14115-858_14115-856delGTT 499576490 145031682 20110316_indels_chr19_39065700_39065702 1.74e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065871C>T;NG_008866.1:g.146532C>T;NM_000540.2:c.14130-688C>T;NM_001042723.1:c.14115-688C>T 228135999 76515242 pilot_1_YRI_9945682_chr19_43757711 1.80e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39065957G>A;NG_008866.1:g.146618G>A;NM_000540.2:c.14130-602G>A;NM_001042723.1:c.14115-602G>A 465587146 181125547 20101123_snps_11754376_chr19_39065957 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39066024C>T;NG_008866.1:g.146685C>T;NM_000540.2:c.14130-535C>T;NM_001042723.1:c.14115-535C>T 155887936 76414340 GMI_SNP_40726726 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39066024C>T;NG_008866.1:g.146685C>T;NM_000540.2:c.14130-535C>T;NM_001042723.1:c.14115-535C>T 283206231 76414340 GMI_AK_SNP_7526652 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066035C>T;NG_008866.1:g.146696C>T;NM_000540.2:c.14130-524C>T;NM_001042723.1:c.14115-524C>T 340454951 140618473 20100804_snps_12098492_chr19_39066035 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39066036A>C;NG_008866.1:g.146697A>C;NM_000540.2:c.14130-523A>C;NM_001042723.1:c.14115-523A>C 465587147 185713567 20101123_snps_11754377_chr19_39066036 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39066111C>T;NG_008866.1:g.146772C>T;NM_000540.2:c.14130-448C>T;NM_001042723.1:c.14115-448C>T 465587148 188170091 20101123_snps_11754378_chr19_39066111 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39066161G>A;NG_008866.1:g.146822G>A;NM_000540.2:c.14130-398G>A;NM_001042723.1:c.14115-398G>A 465587149 180926458 20101123_snps_11754379_chr19_39066161 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39066176C>T;NG_008866.1:g.146837C>T;NM_000540.2:c.14130-383C>T;NM_001042723.1:c.14115-383C>T 84781003 58566631 Cor19240_SNV_20070510.chr19_43758016 1.74e-02 2007.12.08 2007.12.08 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39066176C>T;NG_008866.1:g.146837C>T;NM_000540.2:c.14130-383C>T;NM_001042723.1:c.14115-383C>T 169709401 58566631 NA19240_36_chr19_43758016 1.74e-02 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066176C>T;NG_008866.1:g.146837C>T;NM_000540.2:c.14130-383C>T;NM_001042723.1:c.14115-383C>T 465587150 58566631 20101123_snps_11754380_chr19_39066176 1.74e-02 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066278A>G;NG_008866.1:g.146939A>G;NM_000540.2:c.14130-281A>G;NM_001042723.1:c.14115-281A>G 340454952 145676047 20100804_snps_12098493_chr19_39066278 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39066302G>A;NG_008866.1:g.146963G>A;NM_000540.2:c.14130-257G>A;NM_001042723.1:c.14115-257G>A 465587151 191885821 20101123_snps_11754381_chr19_39066302 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39066304G>A;NG_008866.1:g.146965G>A;NM_000540.2:c.14130-255G>A;NM_001042723.1:c.14115-255G>A 16788104 11666388 CSHL-HuAA-200402.chr19.NT_011109.15_11334522 5.00e-04 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066304G>A;NG_008866.1:g.146965G>A;NM_000540.2:c.14130-255G>A;NM_001042723.1:c.14115-255G>A 465587152 11666388 20101123_snps_11754382_chr19_39066304 5.00e-04 2011.07.20 2011.07.20 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066310G>A;NG_008866.1:g.146971G>A;NM_000540.2:c.14130-249G>A;NM_001042723.1:c.14115-249G>A 465587153 186700116 20101123_snps_11754383_chr19_39066310 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39066322A>C;NG_008866.1:g.146983A>C;NM_000540.2:c.14130-237A>C;NM_001042723.1:c.14115-237A>C 208566810 113609380 BCM_CMT_1011-3146979 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 CSHL-HAPMAP 6261 NC_000019.9:g.39066358G>A;NG_008866.1:g.147019G>A;NM_000540.2:c.14130-201G>A;NM_001042723.1:c.14115-201G>A 19396231 12459409 CSHL-HuDD-200402.chr19.NT_011109.15_11334576 7.65e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39066358G>A;NG_008866.1:g.147019G>A;NM_000540.2:c.14130-201G>A;NM_001042723.1:c.14115-201G>A 161878529 12459409 ENSSNP1527990 7.65e-02 2009.09.26 2009.09.26 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39066358G>A;NG_008866.1:g.147019G>A;NM_000540.2:c.14130-201G>A;NM_001042723.1:c.14115-201G>A 283206232 12459409 GMI_AK_SNP_7526653 7.65e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066358G>A;NG_008866.1:g.147019G>A;NM_000540.2:c.14130-201G>A;NM_001042723.1:c.14115-201G>A 340454953 12459409 20100804_snps_12098494_chr19_39066358 7.65e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 111366173 73032656 CEU.trio.12.15.2008_3616707_chr19_43758334 4.53e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 208428592 73032656 BCM_CMT_1011-3100404 4.53e-02 2010.03.19 2010.03.19 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 237674384 73032656 pilot_1_CEU_7279013_chr19_43758334 4.53e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 243881170 73032656 pilot_1_CHB+JPT_5766247_chr19_43758334 4.53e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 283206233 73032656 GMI_AK_SNP_7526654 4.53e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 483392545 73032656 HumanOmni2.5-4v1_D_kgp4633196-0_T_R_1816351924 4.53e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39066494C>T;NG_008866.1:g.147155C>T;NM_000540.2:c.14130-65C>T;NM_001042723.1:c.14115-65C>T 483826091 73032656 HumanOmni2.5-4v1_B_SNP19-43758334-0_T_R_1628553822 4.53e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066550T>G;NG_008866.1:g.147211T>G;NM_000540.2:c.14130-9T>G;NM_001042723.1:c.14115-9T>G 465587154 191894192 20101123_snps_11754384_chr19_39066550 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066550T>G;NG_008866.1:g.147211T>G;NM_000540.2:c.14130-9T>G;NM_001042723.1:c.14115-9T>G 491158156 191894192 20110521_exome_665954_chr19_39066550 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066551C>G;NG_008866.1:g.147212C>G;NM_000540.2:c.14130-8C>G;NM_001042723.1:c.14115-8C>G 340454954 140808099 20100804_snps_12098495_chr19_39066551 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066551C>G;NG_008866.1:g.147212C>G;NM_000540.2:c.14130-8C>G;NM_001042723.1:c.14115-8C>G 491158157 140808099 20110521_exome_665955_chr19_39066551 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066561C>G;NG_008866.1:g.147222C>G;NM_000540.2:c.14132C>G;NM_001042723.1:c.14117C>G;NP_000531.2:p.Ser4711Cys;NP_001036188.1:p.Ser4706Cys 489164709 201147958 20110521_exome_255740_chr19_39066561 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39066596C>T;NG_008866.1:g.147257C>T;NM_000540.2:c.14167C>T;NM_001042723.1:c.14152C>T;NP_000531.2:p.Arg4723Cys;NP_001036188.1:p.Arg4718Cys 491766288 200473035 SNV-chr19-43758436 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39066597G>A;NG_008866.1:g.147258G>A;NM_000540.2:c.14168G>A;NM_001042723.1:c.14153G>A;NP_000531.2:p.Arg4723His;NP_001036188.1:p.Arg4718His 491546521 200766617 nonsyn_262747_chr_19_39066597 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 GENEREVIEWS 6261 NM_000540.2:c.14170A>C NC_000019.9:g.39066599A>C;NG_008866.1:g.147260A>C;NM_000540.2:c.14170A>C;NM_001042723.1:c.14155A>C;NP_000531.2:p.Lys4724Gln;NP_001036188.1:p.Lys4719Gln 252444709 118192141 CCORE_34 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14170A>C NC_000019.9:g.39066599A>C;NG_008866.1:g.147260A>C;NM_000540.2:c.14170A>C;NM_001042723.1:c.14155A>C;NP_000531.2:p.Lys4724Gln;NP_001036188.1:p.Lys4719Gln 475871717 118192141 RYR1_00031 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39066922C>T;NG_008866.1:g.147583C>T;NM_000540.2:c.14172+321C>T;NM_001042723.1:c.14157+321C>T 340454955 150176907 20100804_snps_12098496_chr19_39066922 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39066952C>G;NG_008866.1:g.147613C>G;NM_000540.2:c.14172+351C>G;NM_001042723.1:c.14157+351C>G 465587155 182442624 20101123_snps_11754385_chr19_39066952 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39067075T>A;NG_008866.1:g.147736T>A;NM_000540.2:c.14172+474T>A;NM_001042723.1:c.14157+474T>A 340454956 138641208 20100804_snps_12098497_chr19_39067075 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39067171G>A;NG_008866.1:g.147832G>A;NM_000540.2:c.14172+570G>A;NM_001042723.1:c.14157+570G>A 340454957 142712625 20100804_snps_12098498_chr19_39067171 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 2869930 1966385 TSC0385759 1.38e-01 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 ABI 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 40996112 1966385 hCV11977402 1.38e-01 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 HGSV 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 85327071 1966385 Cor19129_SNV_20070510.chr19_43759017 1.38e-01 2007.12.09 2007.12.09 2001.01.12 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 203751120 1966385 BUSHMAN-chr19-43759016 1.38e-01 2010.03.09 2010.03.09 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 243881171 1966385 pilot_1_CHB+JPT_5766248_chr19_43759017 1.38e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 GMI 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 283206234 1966385 GMI_AK_SNP_7526655 1.38e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 482814398 1966385 HumanOmni2.5-4v1_D_kgp22804223-0_T_F_1860359585 1.38e-01 2012.02.02 2012.02.02 2001.01.12 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39067177A>C;NG_008866.1:g.147838A>C;NM_000540.2:c.14172+576A>C;NM_001042723.1:c.14157+576A>C 483826093 1966385 HumanOmni2.5-4v1_B_SNP19-43759017-0_T_F_1624391435 1.38e-01 2012.02.03 2012.02.03 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067288C>T;NG_008866.1:g.147949C>T;NM_000540.2:c.14172+687C>T;NM_001042723.1:c.14157+687C>T 465587156 187077304 20101123_snps_11754386_chr19_39067288 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39067290A>G;NG_008866.1:g.147951A>G;NM_000540.2:c.14172+689A>G;NM_001042723.1:c.14157+689A>G 203751121 113718374 BUSHMAN-chr19-43759129 1.74e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067290A>G;NG_008866.1:g.147951A>G;NM_000540.2:c.14172+689A>G;NM_001042723.1:c.14157+689A>G 228136000 113718374 pilot_1_YRI_9945683_chr19_43759130 1.74e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067344G>A;NG_008866.1:g.148005G>A;NM_000540.2:c.14172+743G>A;NM_001042723.1:c.14157+743G>A 340454958 146926456 20100804_snps_12098499_chr19_39067344 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39067396C>T;NG_008866.1:g.148057C>T;NM_000540.2:c.14172+795C>T;NM_001042723.1:c.14157+795C>T 2869931 1966386 TSC0385760 5.59e-02 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 ABI 6261 NC_000019.9:g.39067396C>T;NG_008866.1:g.148057C>T;NM_000540.2:c.14172+795C>T;NM_001042723.1:c.14157+795C>T 40991122 1966386 hCV11977401 5.59e-02 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 GMI 6261 NC_000019.9:g.39067396C>T;NG_008866.1:g.148057C>T;NM_000540.2:c.14172+795C>T;NM_001042723.1:c.14157+795C>T 283206235 1966386 GMI_AK_SNP_7526656 5.59e-02 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067396C>T;NG_008866.1:g.148057C>T;NM_000540.2:c.14172+795C>T;NM_001042723.1:c.14157+795C>T 340454959 1966386 20100804_snps_12098500_chr19_39067396 5.59e-02 2011.03.22 2011.03.22 2001.01.12 2012.11.28 137 TSC-CSHL 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 2869932 1966387 TSC0385761 1.38e-01 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 ABI 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 40961199 1966387 hCV11977396 1.38e-01 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 HGSV 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 85448680 1966387 Cor19129_SNV_20070510.chr19_43759267 1.38e-01 2007.12.09 2007.12.09 2001.01.12 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 203751122 1966387 BUSHMAN-chr19-43759266 1.38e-01 2010.03.09 2010.03.09 2001.01.12 2012.11.28 137 GMI 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 283206236 1966387 GMI_AK_SNP_7526657 1.38e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067427G>A;NG_008866.1:g.148088G>A;NM_000540.2:c.14172+826G>A;NM_001042723.1:c.14157+826G>A 340454960 1966387 20100804_snps_12098501_chr19_39067427 1.38e-01 2011.03.22 2011.03.22 2001.01.12 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39067440_39067441insA;NG_008866.1:g.148101_148102insA;NM_000540.2:c.14172+839_14172+840insA;NM_001042723.1:c.14157+839_14157+840insA 193510373 113312442 BUSHMAN-chr19-43759286-43759286 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 2289163 1468570 TSC0385762 5.54e-02 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 40969036 1468570 hCV11977395 5.54e-02 2005.07.17 2005.07.17 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 228136001 1468570 pilot_1_YRI_9945684_chr19_43759357 5.54e-02 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 237674385 1468570 pilot_1_CEU_7279014_chr19_43759357 5.54e-02 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 243881172 1468570 pilot_1_CHB+JPT_5766249_chr19_43759357 5.54e-02 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.39067517G>A;NG_008866.1:g.148178G>A;NM_000540.2:c.14172+916G>A;NM_001042723.1:c.14157+916G>A 283206237 1468570 GMI_AK_SNP_7526658 5.54e-02 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067549G>A;NG_008866.1:g.148210G>A;NM_000540.2:c.14172+948G>A;NM_001042723.1:c.14157+948G>A 465587157 190249953 20101123_snps_11754387_chr19_39067549 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 6261 NC_000019.9:g.39067589A>G;NG_008866.1:g.148250A>G;NM_000540.2:c.14173-969A>G;NM_001042723.1:c.14158-969A>G 12461294 8106539 chr19.NT_011109.15_11335807 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39067595A>G;NG_008866.1:g.148256A>G;NM_000540.2:c.14173-963A>G;NM_001042723.1:c.14158-963A>G 12461308 8106547 chr19.NT_011109.15_11335813 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39067606A>G;NG_008866.1:g.148267A>G;NM_000540.2:c.14173-952A>G;NM_001042723.1:c.14158-952A>G 12461312 8106549 chr19.NT_011109.15_11335824 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 WI_SSAHASNP 6261 NC_000019.9:g.39067628C>T;NG_008866.1:g.148289C>T;NM_000540.2:c.14173-930C>T;NM_001042723.1:c.14158-930C>T 12461493 8106652 chr19.NT_011109.15_11335846 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39067665A>G;NG_008866.1:g.148326A>G;NM_000540.2:c.14173-893A>G;NM_001042723.1:c.14158-893A>G 340454961 143923604 20100804_snps_12098502_chr19_39067665 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39067732G>A;NG_008866.1:g.148393G>A;NM_000540.2:c.14173-826G>A;NM_001042723.1:c.14158-826G>A 465587158 182130437 20101123_snps_11754388_chr19_39067732 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39067816G>A;NG_008866.1:g.148477G>A;NM_000540.2:c.14173-742G>A;NM_001042723.1:c.14158-742G>A 228136002 114763132 pilot_1_YRI_9945685_chr19_43759656 5.45e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39067869C>T;NG_008866.1:g.148530C>T;NM_000540.2:c.14173-689C>T;NM_001042723.1:c.14158-689C>T 228136003 115655944 pilot_1_YRI_9945686_chr19_43759709 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39067869C>T;NG_008866.1:g.148530C>T;NM_000540.2:c.14173-689C>T;NM_001042723.1:c.14158-689C>T 482318042 115655944 HumanOmni2.5-4v1_D_kgp21340290-0_B_F_1844032882 1.10e-02 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39067869C>T;NG_008866.1:g.148530C>T;NM_000540.2:c.14173-689C>T;NM_001042723.1:c.14158-689C>T 483826095 115655944 HumanOmni2.5-4v1_B_SNP19-43759709-0_B_F_1637576611 1.10e-02 2012.02.03 2012.02.03 2010.07.14 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39067896G>A;NG_008866.1:g.148557G>A;NM_000540.2:c.14173-662G>A;NM_001042723.1:c.14158-662G>A 6627607 4801804 NT_011109.13_1222911 5.49e-02 2003.02.13 2004.04.07 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067896G>A;NG_008866.1:g.148557G>A;NM_000540.2:c.14173-662G>A;NM_001042723.1:c.14158-662G>A 228136004 4801804 pilot_1_YRI_9945687_chr19_43759736 5.49e-02 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067896G>A;NG_008866.1:g.148557G>A;NM_000540.2:c.14173-662G>A;NM_001042723.1:c.14158-662G>A 243881173 4801804 pilot_1_CHB+JPT_5766250_chr19_43759736 5.49e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39067896G>A;NG_008866.1:g.148557G>A;NM_000540.2:c.14173-662G>A;NM_001042723.1:c.14158-662G>A 283206238 4801804 GMI_AK_SNP_7526659 5.49e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067916T>C;NG_008866.1:g.148577T>C;NM_000540.2:c.14173-642T>C;NM_001042723.1:c.14158-642T>C 340454962 148571295 20100804_snps_12098503_chr19_39067916 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39067980T>G;NG_008866.1:g.148641T>G;NM_000540.2:c.14173-578T>G;NM_001042723.1:c.14158-578T>G 465587159 188058347 20101123_snps_11754389_chr19_39067980 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39067987C>T;NG_008866.1:g.148648C>T;NM_000540.2:c.14173-571C>T;NM_001042723.1:c.14158-571C>T 228136005 77866361 pilot_1_YRI_9945688_chr19_43759827 6.82e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067987C>T;NG_008866.1:g.148648C>T;NM_000540.2:c.14173-571C>T;NM_001042723.1:c.14158-571C>T 237674386 77866361 pilot_1_CEU_7279015_chr19_43759827 6.82e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067987C>T;NG_008866.1:g.148648C>T;NM_000540.2:c.14173-571C>T;NM_001042723.1:c.14158-571C>T 243881174 77866361 pilot_1_CHB+JPT_5766251_chr19_43759827 6.82e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39067987C>T;NG_008866.1:g.148648C>T;NM_000540.2:c.14173-571C>T;NM_001042723.1:c.14158-571C>T 283206239 77866361 GMI_AK_SNP_7526660 6.82e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39067988G>A;NG_008866.1:g.148649G>A;NM_000540.2:c.14173-570G>A;NM_001042723.1:c.14158-570G>A 203751123 79487156 BUSHMAN-chr19-43759827 4.81e-02 2010.03.09 2010.03.09 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39067988G>A;NG_008866.1:g.148649G>A;NM_000540.2:c.14173-570G>A;NM_001042723.1:c.14158-570G>A 228136006 79487156 pilot_1_YRI_9945689_chr19_43759828 4.81e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068028C>T;NG_008866.1:g.148689C>T;NM_000540.2:c.14173-530C>T;NM_001042723.1:c.14158-530C>T 340454963 141943888 20100804_snps_12098504_chr19_39068028 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 6628815 4802617 NT_011109.13_1223065 8.33e-02 2003.02.13 2004.08.05 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 80007634 4802617 Cor18507_SNV_20070510.chr19_43759890 8.33e-02 2007.11.24 2007.11.24 2003.02.20 2012.11.28 137 HGSV 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 83912997 4802617 Cor19240_SNV_20070510.chr19_43759890 8.33e-02 2007.12.06 2007.12.06 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 115121124 4802617 NA19240_2008_12_16_3257681_chr19_43759890 8.33e-02 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 117702744 4802617 NA18507_000043960_NCBI36.1_chr19_43759890 8.33e-02 2009.01.20 2009.01.20 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 169709422 4802617 NA19240_36_chr19_43759890 8.33e-02 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 203751124 4802617 BUSHMAN-chr19-43759889 8.33e-02 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 228136007 4802617 pilot_1_YRI_9945690_chr19_43759890 8.33e-02 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 243881175 4802617 pilot_1_CHB+JPT_5766252_chr19_43759890 8.33e-02 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 6261 NC_000019.9:g.39068050C>T;NG_008866.1:g.148711C>T;NM_000540.2:c.14173-508C>T;NM_001042723.1:c.14158-508C>T 283206240 4802617 GMI_AK_SNP_7526661 8.33e-02 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068211C>T;NG_008866.1:g.148872C>T;NM_000540.2:c.14173-347C>T;NM_001042723.1:c.14158-347C>T 340454964 150700249 20100804_snps_12098505_chr19_39068211 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39068243C>T;NG_008866.1:g.148904C>T;NM_000540.2:c.14173-315C>T;NM_001042723.1:c.14158-315C>T 203751125 111409508 BUSHMAN-chr19-43760082 1.74e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068243C>T;NG_008866.1:g.148904C>T;NM_000540.2:c.14173-315C>T;NM_001042723.1:c.14158-315C>T 340454965 111409508 20100804_snps_12098506_chr19_39068243 1.74e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068266G>A;NG_008866.1:g.148927G>A;NM_000540.2:c.14173-292G>A;NM_001042723.1:c.14158-292G>A 465587160 193083956 20101123_snps_11754390_chr19_39068266 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39068433_39068434insA;NG_008866.1:g.149094_149095insA;NM_000540.2:c.14173-125_14173-124insA;NM_001042723.1:c.14158-125_14158-124insA 193510376 111471835 BUSHMAN-chr19-43760273-43760273 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.39068434_39068435insA;NG_008866.1:g.149095_149096insA;NM_000540.2:c.14173-124_14173-123insA;NM_001042723.1:c.14158-124_14158-123insA 101733360 72341521 INDEL_GP36_2008a_1398617_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39068489C>T;NG_008866.1:g.149150C>T;NM_000540.2:c.14173-69C>T;NM_001042723.1:c.14158-69C>T 340454966 143867312 20100804_snps_12098507_chr19_39068489 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 6261 NC_000019.9:g.39068504G>A;NG_008866.1:g.149165G>A;NM_000540.2:c.14173-54G>A;NM_001042723.1:c.14158-54G>A 491766289 201527360 SNV-chr19-43760344 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39068581C>A;NG_008866.1:g.149242C>A;NM_000540.2:c.14196C>A;NM_001042723.1:c.14181C>A;NP_000531.2:p.Ile4732=;NP_001036188.1:p.Ile4727= 491766290 201670423 SNV-chr19-43760421 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14197T>G NC_000019.9:g.39068582T>G;NG_008866.1:g.149243T>G;NM_000540.2:c.14197T>G;NM_001042723.1:c.14182T>G;NP_000531.2:p.Tyr4733Asp;NP_001036188.1:p.Tyr4728Asp 475871718 193922865 RYR1_00199 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14201G>A NC_000019.9:g.39068586G>A;NG_008866.1:g.149247G>A;NM_000540.2:c.14201G>A;NM_001042723.1:c.14186G>A;NP_000531.2:p.Gly4734Glu;NP_001036188.1:p.Gly4729Glu 475871719 193922866 RYR1_00107 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14209C>T NC_000019.9:g.39068594C>T;NG_008866.1:g.149255C>T;NM_000540.2:c.14209C>T;NM_001042723.1:c.14194C>T;NP_000531.2:p.Arg4737Trp;NP_001036188.1:p.Arg4732Trp 475871720 193922867 RYR1_00108 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14210G>A NC_000019.9:g.39068595G>A;NG_008866.1:g.149256G>A;NM_000540.2:c.14210G>A;NM_001042723.1:c.14195G>A;NP_000531.2:p.Arg4737Gln;NP_001036188.1:p.Arg4732Gln 475871721 193922868 RYR1_00109 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14228G>A NC_000019.9:g.39068613G>A;NG_008866.1:g.149274G>A;NM_000540.2:c.14228G>A;NM_001042723.1:c.14213G>A;NP_000531.2:p.Gly4743Asp;NP_001036188.1:p.Gly4738Asp 475871722 193922869 RYR1_00258 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 TSC-CSHL 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 2289164 1468571 TSC0385763 1.40e-01 germline untested 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 YUSUKE 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 3227178 1468571 IMS-JST037262 1.40e-01 germline untested 2001.09.05 2003.10.10 2000.10.23 2012.11.28 137 BCM_SSAHASNP 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 14720452 1468571 chr19.NT_011109.15_11336859 1.40e-01 germline untested 2003.11.10 2004.05.16 2000.10.23 2012.11.28 137 CSHL-HAPMAP 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 19400444 1468571 CSHL-HuDD-200402.chr19.NT_011109.15_11336859 1.40e-01 unknown untested 2004.02.21 2004.03.04 2000.10.23 2012.11.28 137 PERLEGEN 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 23605550 1468571 afd4176883 1.40e-01 germline untested 2004.08.20 2004.09.13 2000.10.23 2012.11.28 137 ABI 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 44188911 1468571 hCV2600245 1.40e-01 unknown untested 2005.07.18 2005.07.18 2000.10.23 2012.11.28 137 APPLERA_GI 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 48401733 1468571 hCV2600245 1.40e-01 germline untested 2005.11.30 2006.11.03 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 65746111 1468571 Human1-rs1468571 1.40e-01 unknown untested 2006.10.10 2006.10.10 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 67111605 1468571 HumanHap550v1.1_rs1468571 1.40e-01 unknown untested 2006.11.14 2006.11.14 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 67448511 1468571 HumanHap650Yv1.0_rs1468571 1.40e-01 germline untested 2006.11.14 2006.11.14 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 68156053 1468571 HumanHap250Sv1.0_rs1468571 1.40e-01 unknown untested 2006.12.06 2006.12.07 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 70621665 1468571 HumanHap550v3.0__rs1468571 1.40e-01 germline untested 2007.04.20 2008.03.30 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 71170441 1468571 HumanHap650Yv3.0_rs1468571 1.40e-01 germline untested 2007.04.23 2007.04.23 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 75440759 1468571 ILMN_Human_1M_rs1468571 1.40e-01 germline untested 2007.08.29 2007.08.29 2000.10.23 2012.11.28 137 AFFY 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 76741861 1468571 AFFY_6_1M_SNP_A-8603149 1.40e-01 unknown untested 2007.08.30 2007.08.30 2000.10.23 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 83788761 1468571 KHS543629 1.40e-01 germline untested 2007.12.05 2007.12.05 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 115121131 1468571 NA19240_2008_12_16_3257682_chr19_43760481 1.40e-01 germline untested 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 153455939 1468571 Human610_Quadv1_B_rs1468571-126_T_F_1502141968 1.40e-01 germline untested 2009.06.18 2009.06.19 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 159273600 1468571 Human660W-Quad_v1_A_rs1468571-126_T_F_1502141968 1.40e-01 germline untested 2009.07.06 2009.07.06 2000.10.23 2012.11.28 137 SEATTLESEQ 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 159739647 1468571 RYR1-43760481 1.40e-01 germline untested 2009.07.10 2009.07.10 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 160358093 1468571 HumanOmni1-Quad_v1-0_B_rs1468571-126_T_F_1501444568 1.40e-01 germline untested 2009.08.06 2009.10.02 2000.10.23 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 161878530 1468571 ENSSNP1527991 1.40e-01 germline untested 2009.09.26 2010.03.07 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 169709444 1468571 NA19240_36_chr19_43760481 1.40e-01 germline untested 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 172524982 1468571 Human1M-Duov3_B_rs1468571-126_T_F_1502141968 1.40e-01 germline untested 2009.10.02 2009.10.02 2000.10.23 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 203751126 1468571 BUSHMAN-chr19-43760480 1.40e-01 unknown untested 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 228136008 1468571 pilot_1_YRI_9945691_chr19_43760481 1.40e-01 germline untested 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 243881176 1468571 pilot_1_CHB+JPT_5766253_chr19_43760481 1.40e-01 germline untested 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 GMI 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 283206241 1468571 GMI_AK_SNP_7526662 1.40e-01 unknown untested 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 342496688 1468571 ESP2500-chr19-39068641 1.40e-01 germline untested 2011.03.27 2011.03.27 2000.10.23 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14256A>C NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 475871723 1468571 RYR1_00043 1.40e-01 germline untested 2011.11.25 2011.11.25 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 479989052 1468571 HumanOmni2.5-4v1_B_rs1468571-128_T_F_1782959103 1.40e-01 unknown untested 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 479997734 1468571 HumanOmniExpress-12v1_C_rs1468571-131_T_F_1857596374 1.40e-01 unknown untested 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 480650097 1468571 HumanOmni1-Quad_v1-0_C_rs1468571-131_T_F_1857596374 1.40e-01 unknown untested 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 483826097 1468571 HumanOmni2.5-4v1_B_SNP19-43760481-0_T_F_1624389876 1.40e-01 germline untested 2012.02.03 2012.02.03 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 484329536 1468571 HumanOmni2.5-4v1_D_kgp9742413-0_T_F_1815968444 1.40e-01 unknown untested 2012.02.03 2012.02.03 2000.10.23 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 484792669 1468571 HumanOmni2.5-4v1_D_rs1468571-131_T_F_1857596374 1.40e-01 germline untested 2012.02.04 2012.02.04 2000.10.23 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 491158158 1468571 20110521_exome_665956_chr19_39068641 1.40e-01 germline untested 2012.02.22 2012.02.22 2000.10.23 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39068641A>C;NG_008866.1:g.149302A>C;NM_000540.2:c.14256A>C;NM_001042723.1:c.14241A>C;NP_000531.2:p.Thr4752=;NP_001036188.1:p.Thr4747= 491766291 1468571 SNV-chr19-43760481 1.40e-01 germline untested 2012.03.07 2012.03.13 2000.10.23 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39068642G>A;NG_008866.1:g.149303G>A;NM_000540.2:c.14257G>A;NM_001042723.1:c.14242G>A;NP_000531.2:p.Ala4753Thr;NP_001036188.1:p.Ala4748Thr 342496689 138156449 ESP2500-chr19-39068642 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39068642G>A;NG_008866.1:g.149303G>A;NM_000540.2:c.14257G>A;NM_001042723.1:c.14242G>A;NP_000531.2:p.Ala4753Thr;NP_001036188.1:p.Ala4748Thr 491546522 138156449 nonsyn_262748_chr_19_39068642 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39068668G>A;NG_008866.1:g.149329G>A;NM_000540.2:c.14283G>A;NM_001042723.1:c.14268G>A;NP_000531.2:p.Pro4761=;NP_001036188.1:p.Pro4756= 491766292 201157293 SNV-chr19-43760508 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068670C>T;NG_008866.1:g.149331C>T;NM_000540.2:c.14285C>T;NM_001042723.1:c.14270C>T;NP_000531.2:p.Pro4762Leu;NP_001036188.1:p.Pro4757Leu 340454967 146793368 20100804_snps_12098508_chr19_39068670 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39068670C>T;NG_008866.1:g.149331C>T;NM_000540.2:c.14285C>T;NM_001042723.1:c.14270C>T;NP_000531.2:p.Pro4762Leu;NP_001036188.1:p.Pro4757Leu 342496690 146793368 ESP2500-chr19-39068670 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068670C>T;NG_008866.1:g.149331C>T;NM_000540.2:c.14285C>T;NM_001042723.1:c.14270C>T;NP_000531.2:p.Pro4762Leu;NP_001036188.1:p.Pro4757Leu 491158159 146793368 20110521_exome_665957_chr19_39068670 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068705C>T;NG_008866.1:g.149366C>T;NM_000540.2:c.14303+17C>T;NM_001042723.1:c.14288+17C>T 489164711 200239964 20110521_exome_255741_chr19_39068705 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068796C>T;NG_008866.1:g.149457C>T;NM_000540.2:c.14316C>T;NM_001042723.1:c.14301C>T;NP_000531.2:p.Ile4772=;NP_001036188.1:p.Ile4767= 489164713 201838999 20110521_exome_255742_chr19_39068796 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39068843A>G;NG_008866.1:g.149504A>G;NM_000540.2:c.14363A>G;NM_001042723.1:c.14348A>G;NP_000531.2:p.Asn4788Ser;NP_001036188.1:p.Asn4783Ser 491546523 200002533 splice_262749_chr_19_39068843 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 EXOME_CHIP 6261 NC_000019.9:g.39068844C>T;NG_008866.1:g.149505C>T;NM_000540.2:c.14364C>T;NM_001042723.1:c.14349C>T;NP_000531.2:p.Asn4788=;NP_001036188.1:p.Asn4783= 491546524 200927402 splice_262750_chr_19_39068844 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39068882G>A;NG_008866.1:g.149543G>A;NM_000540.2:c.14364+38G>A;NM_001042723.1:c.14349+38G>A 340454968 139464203 20100804_snps_12098509_chr19_39068882 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39068882G>A;NG_008866.1:g.149543G>A;NM_000540.2:c.14364+38G>A;NM_001042723.1:c.14349+38G>A 491158160 139464203 20110521_exome_665958_chr19_39068882 5.50e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39068890G>A;NG_008866.1:g.149551G>A;NM_000540.2:c.14364+46G>A;NM_001042723.1:c.14349+46G>A 203751127 112526785 BUSHMAN-chr19-43760729 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39068920C>T;NG_008866.1:g.149581C>T;NM_000540.2:c.14364+76C>T;NM_001042723.1:c.14349+76C>T 340454969 144304405 20100804_snps_12098510_chr19_39068920 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39068944A>T;NG_008866.1:g.149605A>T;NM_000540.2:c.14364+100A>T;NM_001042723.1:c.14349+100A>T 465587161 185727359 20101123_snps_11754391_chr19_39068944 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39069040T>A;NG_008866.1:g.149701T>A;NM_000540.2:c.14364+196T>A;NM_001042723.1:c.14349+196T>A 465587162 188183562 20101123_snps_11754392_chr19_39069040 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39069070C>T;NG_008866.1:g.149731C>T;NM_000540.2:c.14364+226C>T;NM_001042723.1:c.14349+226C>T 203751128 113334338 BUSHMAN-chr19-43760909 1.74e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39069070C>T;NG_008866.1:g.149731C>T;NM_000540.2:c.14364+226C>T;NM_001042723.1:c.14349+226C>T 228136009 113334338 pilot_1_YRI_9945692_chr19_43760910 1.74e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39069210C>T;NG_008866.1:g.149871C>T;NM_000540.2:c.14364+366C>T;NM_001042723.1:c.14349+366C>T 340454970 145242633 20100804_snps_12098511_chr19_39069210 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 6261 NC_000019.9:g.39069230T>C;NG_008866.1:g.149891T>C;NM_000540.2:c.14364+386T>C;NM_001042723.1:c.14349+386T>C 84002222 61435613 Cor19240_SNV_20070510.chr19_43761070 1.41e-01 2007.12.06 2007.12.06 2007.12.16 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39069230T>C;NG_008866.1:g.149891T>C;NM_000540.2:c.14364+386T>C;NM_001042723.1:c.14349+386T>C 203751129 61435613 BUSHMAN-chr19-43761069 1.41e-01 2010.03.09 2010.03.09 2007.12.16 2012.11.28 137 GMI 6261 NC_000019.9:g.39069230T>C;NG_008866.1:g.149891T>C;NM_000540.2:c.14364+386T>C;NM_001042723.1:c.14349+386T>C 283206242 61435613 GMI_AK_SNP_7526663 1.41e-01 2010.12.16 2010.12.16 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39069230T>C;NG_008866.1:g.149891T>C;NM_000540.2:c.14364+386T>C;NM_001042723.1:c.14349+386T>C 340454971 61435613 20100804_snps_12098512_chr19_39069230 1.41e-01 2011.03.22 2011.03.22 2007.12.16 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39069270C>G;NG_008866.1:g.149931C>G;NM_000540.2:c.14364+426C>G;NM_001042723.1:c.14349+426C>G 465587163 192241445 20101123_snps_11754393_chr19_39069270 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39069330C>T;NG_008866.1:g.149991C>T;NM_000540.2:c.14364+486C>T;NM_001042723.1:c.14349+486C>T 340454972 143118956 20100804_snps_12098513_chr19_39069330 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39069386G>A;NG_008866.1:g.150047G>A;NM_000540.2:c.14364+542G>A;NM_001042723.1:c.14349+542G>A 340454973 151230439 20100804_snps_12098514_chr19_39069386 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39069411A>G;NG_008866.1:g.150072A>G;NM_000540.2:c.14364+567A>G;NM_001042723.1:c.14349+567A>G 340454974 141452345 20100804_snps_12098515_chr19_39069411 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39069557C>T;NG_008866.1:g.150218C>T;NM_000540.2:c.14364+713C>T;NM_001042723.1:c.14349+713C>T 465587164 184028735 20101123_snps_11754394_chr19_39069557 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39069588C>G;NG_008866.1:g.150249C>G;NM_000540.2:c.14364+744C>G;NM_001042723.1:c.14349+744C>G 340454975 146998233 20100804_snps_12098516_chr19_39069588 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39069733C>T;NG_008866.1:g.150394C>T;NM_000540.2:c.14364+889C>T;NM_001042723.1:c.14349+889C>T 465587165 188613176 20101123_snps_11754395_chr19_39069733 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 6261 NC_000019.9:g.39069930T>A;NG_008866.1:g.150591T>A;NM_000540.2:c.14365-692T>A;NM_001042723.1:c.14350-692T>A 20063551 12608907 CSHL-HuFF-200402.chr19.NT_011109.15_11338148 2004.02.22 2004.03.04 2004.02.28 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39069992G>A;NG_008866.1:g.150653G>A;NM_000540.2:c.14365-630G>A;NM_001042723.1:c.14350-630G>A 340454976 137919583 20100804_snps_12098517_chr19_39069992 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39070064C>A;NG_008866.1:g.150725C>A;NM_000540.2:c.14365-558C>A;NM_001042723.1:c.14350-558C>A 137670672 78962398 ENSSNP11444431 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39070337C>T;NG_008866.1:g.150998C>T;NM_000540.2:c.14365-285C>T;NM_001042723.1:c.14350-285C>T 465587166 181357951 20101123_snps_11754396_chr19_39070337 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 6261 NC_000019.9:g.39070417G>T;NG_008866.1:g.151078G>T;NM_000540.2:c.14365-205G>T;NM_001042723.1:c.14350-205G>T 117702745 73933026 NA18507_000043961_NCBI36.1_chr19_43762257 1.56e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39070417G>T;NG_008866.1:g.151078G>T;NM_000540.2:c.14365-205G>T;NM_001042723.1:c.14350-205G>T 228136010 73933026 pilot_1_YRI_9945693_chr19_43762257 1.56e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39070520C>T;NG_008866.1:g.151181C>T;NM_000540.2:c.14365-102C>T;NM_001042723.1:c.14350-102C>T 340454978 150126606 20100804_snps_12098519_chr19_39070520 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39070579T>C;NG_008866.1:g.151240T>C;NM_000540.2:c.14365-43T>C;NM_001042723.1:c.14350-43T>C 489164715 201333985 20110521_exome_255743_chr19_39070579 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14365-2A>T NC_000019.9:g.39070620A>T;NG_008866.1:g.151281A>T;NM_000540.2:c.14365-2A>T;NM_001042723.1:c.14350-2A>T 475871724 193922870 RYR1_00294 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14378T>C NC_000019.9:g.39070635T>C;NG_008866.1:g.151296T>C;NM_000540.2:c.14378T>C;NM_001042723.1:c.14363T>C;NP_000531.2:p.Leu4793Pro;NP_001036188.1:p.Leu4788Pro 252444748 118192179 CCORE_91 unknown pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14378T>C NC_000019.9:g.39070635T>C;NG_008866.1:g.151296T>C;NM_000540.2:c.14378T>C;NM_001042723.1:c.14363T>C;NP_000531.2:p.Leu4793Pro;NP_001036188.1:p.Leu4788Pro 475871725 118192179 RYR1_00180 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14387A>G NC_000019.9:g.39070644A>G;NG_008866.1:g.151305A>G;NM_000540.2:c.14387A>G;NM_001042723.1:c.14372A>G;NP_000531.2:p.Tyr4796Cys;NP_001036188.1:p.Tyr4791Cys 252444736 118192167 CCORE_73 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.TYR4796CYS NC_000019.9:g.39070644A>G;NG_008866.1:g.151305A>G;NM_000540.2:c.14387A>G;NM_001042723.1:c.14372A>G;NP_000531.2:p.Tyr4796Cys;NP_001036188.1:p.Tyr4791Cys 275518442 118192167 5311 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14387A>G NC_000019.9:g.39070644A>G;NG_008866.1:g.151305A>G;NM_000540.2:c.14387A>G;NM_001042723.1:c.14372A>G;NP_000531.2:p.Tyr4796Cys;NP_001036188.1:p.Tyr4791Cys 475871726 118192167 RYR1_00168 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14410C>T NC_000019.9:g.39070667C>T;NG_008866.1:g.151328C>T;NM_000540.2:c.14410C>T;NM_001042723.1:c.14395C>T;NP_000531.2:p.His4804Tyr;NP_001036188.1:p.His4799Tyr 475871727 193922871 RYR1_00296 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14422T>A NC_000019.9:g.39070679T>A;NG_008866.1:g.151340T>A;NM_000540.2:c.14422T>A;NM_001042723.1:c.14407T>A;NP_000531.2:p.Phe4808Ile;NP_001036188.1:p.Phe4803Ile 475871728 193922872 RYR1_00159 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14440C>T NC_000019.9:g.39070697C>T;NG_008866.1:g.151358C>T;NM_000540.2:c.14440C>T;NM_001042723.1:c.14425C>T;NP_000531.2:p.Leu4814Phe;NP_001036188.1:p.Leu4809Phe 252444710 118192142 CCORE_37 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14440C>T NC_000019.9:g.39070697C>T;NG_008866.1:g.151358C>T;NM_000540.2:c.14440C>T;NM_001042723.1:c.14425C>T;NP_000531.2:p.Leu4814Phe;NP_001036188.1:p.Leu4809Phe 475871729 118192142 RYR1_00209 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39070706A>T;NG_008866.1:g.151367A>T;NM_000540.2:c.14449A>T;NM_001042723.1:c.14434A>T;NP_000531.2:p.Ile4817Phe;NP_001036188.1:p.Ile4812Phe 342496691 143988412 ESP2500-chr19-39070706 germline untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14449A>T NC_000019.9:g.39070706A>T;NG_008866.1:g.151367A>T;NM_000540.2:c.14449A>T;NM_001042723.1:c.14434A>T;NP_000531.2:p.Ile4817Phe;NP_001036188.1:p.Ile4812Phe 475871730 143988412 RYR1_00082 unknown untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39070708C>T;NG_008866.1:g.151369C>T;NM_000540.2:c.14451C>T;NM_001042723.1:c.14436C>T;NP_000531.2:p.Ile4817=;NP_001036188.1:p.Ile4812= 489164717 200442804 20110521_exome_255744_chr19_39070708 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14458G>T NC_000019.9:g.39070715G>T;NG_008866.1:g.151376G>T;NM_000540.2:c.14458G>T;NM_001042723.1:c.14443G>T;NP_000531.2:p.Gly4820Trp;NP_001036188.1:p.Gly4815Trp 475871731 193922873 RYR1_00083 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39070725C>T;NG_008866.1:g.151386C>T;NM_000540.2:c.14468C>T;NM_001042723.1:c.14453C>T;NP_000531.2:p.Thr4823Met;NP_001036188.1:p.Thr4818Met 342496692 148540135 ESP2500-chr19-39070725 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LUMC-LOVD 6261 NM_000540.2:c.14471T>C NC_000019.9:g.39070728T>C;NG_008866.1:g.151389T>C;NM_000540.2:c.14471T>C;NM_001042723.1:c.14456T>C;NP_000531.2:p.Leu4824Pro;NP_001036188.1:p.Leu4819Pro 475871732 193922874 RYR1_00110 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14473C>T NC_000019.9:g.39070730C>T;NG_008866.1:g.151391C>T;NM_000540.2:c.14473C>T;NM_001042723.1:c.14458C>T;NP_000531.2:p.Arg4825Cys;NP_001036188.1:p.Arg4820Cys 252444749 118192180 CCORE_92 unknown pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14473C>T NC_000019.9:g.39070730C>T;NG_008866.1:g.151391C>T;NM_000540.2:c.14473C>T;NM_001042723.1:c.14458C>T;NP_000531.2:p.Arg4825Cys;NP_001036188.1:p.Arg4820Cys 475871733 118192180 RYR1_00181 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14474G>C NC_000019.9:g.39070731G>C;NG_008866.1:g.151392G>C;NM_000540.2:c.14474G>C;NM_001042723.1:c.14459G>C;NP_000531.2:p.Arg4825Pro;NP_001036188.1:p.Arg4820Pro 475871734 193922875 RYR1_00070 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.THR4826ILE NC_000019.9:g.39070734C>T;NG_008866.1:g.151395C>T;NM_000540.2:c.14477C>T;NM_001042723.1:c.14462C>T;NP_000531.2:p.Thr4826Ile;NP_001036188.1:p.Thr4821Ile 275518441 121918595 5310 germline other 2010.12.08 2010.12.08 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14477C>T NC_000019.9:g.39070734C>T;NG_008866.1:g.151395C>T;NM_000540.2:c.14477C>T;NM_001042723.1:c.14462C>T;NP_000531.2:p.Thr4826Ile;NP_001036188.1:p.Thr4821Ile 475871735 121918595 RYR1_00084 germline other 2011.11.25 2011.11.25 2010.12.08 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14497C>T NC_000019.9:g.39070754C>T;NG_008866.1:g.151415C>T;NM_000540.2:c.14497C>T;NM_001042723.1:c.14482C>T;NP_000531.2:p.His4833Tyr;NP_001036188.1:p.His4828Tyr 475871736 193922876 RYR1_00299 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39070762G>A;NG_008866.1:g.151423G>A;NM_000540.2:c.14505G>A;NM_001042723.1:c.14490G>A;NP_000531.2:p.Gly4835=;NP_001036188.1:p.Gly4830= 237674387 118126378 pilot_1_CEU_7279016_chr19_43762602 3.70e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39070762G>A;NG_008866.1:g.151423G>A;NM_000540.2:c.14505G>A;NM_001042723.1:c.14490G>A;NP_000531.2:p.Gly4835=;NP_001036188.1:p.Gly4830= 342496693 118126378 ESP2500-chr19-39070762 3.70e-03 2011.03.27 2011.03.27 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39070762G>A;NG_008866.1:g.151423G>A;NM_000540.2:c.14505G>A;NM_001042723.1:c.14490G>A;NP_000531.2:p.Gly4835=;NP_001036188.1:p.Gly4830= 491158161 118126378 20110521_exome_665959_chr19_39070762 3.70e-03 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39070762G>A;NG_008866.1:g.151423G>A;NM_000540.2:c.14505G>A;NM_001042723.1:c.14490G>A;NP_000531.2:p.Gly4835=;NP_001036188.1:p.Gly4830= 491766293 118126378 SNV-chr19-43762602 3.70e-03 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14510delA NC_000019.9:g.39070767delA;NG_008866.1:g.151428delA;NM_000540.2:c.14510delA;NM_001042723.1:c.14495delA;NP_000531.2:p.Gln4837Argfs;NP_001036188.1:p.Gln4832Argfs 475871737 193922877 RYR1_00235 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39070896G>T;NG_008866.1:g.151557G>T;NM_000540.2:c.14512-114G>T;NM_001042723.1:c.14497-114G>T 465587167 184323126 20101123_snps_11754397_chr19_39070896 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39070930C>T;NG_008866.1:g.151591C>T;NM_000540.2:c.14512-80C>T;NM_001042723.1:c.14497-80C>T 465587168 189611167 20101123_snps_11754398_chr19_39070930 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39070954_39070955insG;NG_008866.1:g.151615_151616insG;NM_000540.2:c.14512-56_14512-55insG;NM_001042723.1:c.14497-56_14497-55insG 96281053 74176450 1103691141986 2008.03.26 2008.03.26 2009.02.16 2011.09.09 137 CLINSEQ_SNP 6261 NC_000019.9:g.39070958G>T;NG_008866.1:g.151619G>T;NM_000540.2:c.14512-52G>T;NM_001042723.1:c.14497-52G>T 491766294 200838738 SNV-chr19-43762798 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39070979C>T;NG_008866.1:g.151640C>T;NM_000540.2:c.14512-31C>T;NM_001042723.1:c.14497-31C>T 491766295 201360796 SNV-chr19-43762819 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39070988C>A;NG_008866.1:g.151649C>A;NM_000540.2:c.14512-22C>A;NM_001042723.1:c.14497-22C>A 491766296 199819868 SNV-chr19-43762828 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14512C>G NC_000019.9:g.39071010C>G;NG_008866.1:g.151671C>G;NM_000540.2:c.14512C>G;NM_001042723.1:c.14497C>G;NP_000531.2:p.Leu4838Val;NP_001036188.1:p.Leu4833Val 475871738 193922878 RYR1_00085 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14524G>A NC_000019.9:g.39071022G>A;NG_008866.1:g.151683G>A;NM_000540.2:c.14524G>A;NM_001042723.1:c.14509G>A;NP_000531.2:p.Val4842Met;NP_001036188.1:p.Val4837Met 475871739 193922879 RYR1_00318 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14537C>T NC_000019.9:g.39071035C>T;NG_008866.1:g.151696C>T;NM_000540.2:c.14537C>T;NM_001042723.1:c.14522C>T;NP_000531.2:p.Ala4846Val;NP_001036188.1:p.Ala4841Val 252444711 118192143 CCORE_38 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14537C>T NC_000019.9:g.39071035C>T;NG_008866.1:g.151696C>T;NM_000540.2:c.14537C>T;NM_001042723.1:c.14522C>T;NP_000531.2:p.Ala4846Val;NP_001036188.1:p.Ala4841Val 475871740 118192143 RYR1_00264 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14545G>A NC_000019.9:g.39071043G>A;NG_008866.1:g.151704G>A;NM_000540.2:c.14545G>A;NM_001042723.1:c.14530G>A;NP_000531.2:p.Val4849Ile;NP_001036188.1:p.Val4844Ile 252444737 118192168 CCORE_75 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.VAL4849ILE NC_000019.9:g.39071043G>A;NG_008866.1:g.151704G>A;NM_000540.2:c.14545G>A;NM_001042723.1:c.14530G>A;NP_000531.2:p.Val4849Ile;NP_001036188.1:p.Val4844Ile 275518446 118192168 5317 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14545G>A NC_000019.9:g.39071043G>A;NG_008866.1:g.151704G>A;NM_000540.2:c.14545G>A;NM_001042723.1:c.14530G>A;NP_000531.2:p.Val4849Ile;NP_001036188.1:p.Val4844Ile 475871787 118192168 RYR1_00111 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14567C>G NC_000019.9:g.39071065C>G;NG_008866.1:g.151726C>G;NM_000540.2:c.14567C>G;NM_001042723.1:c.14552C>G;NP_000531.2:p.Ala4856Gly;NP_001036188.1:p.Ala4851Gly 475871742 193922880 RYR1_00086 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14572A>G NC_000019.9:g.39071070A>G;NG_008866.1:g.151731A>G;NM_000540.2:c.14572A>G;NM_001042723.1:c.14557A>G;NP_000531.2:p.Asn4858Asp;NP_001036188.1:p.Asn4853Asp 252444712 118192144 CCORE_40 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14572A>G NC_000019.9:g.39071070A>G;NG_008866.1:g.151731A>G;NM_000540.2:c.14572A>G;NM_001042723.1:c.14557A>G;NP_000531.2:p.Asn4858Asp;NP_001036188.1:p.Asn4853Asp 475871743 118192144 RYR1_00247 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14578_14580del NC_000019.9:g.39071076_39071078delTTC;NG_008866.1:g.151737_151739delTTC;NM_000540.2:c.14578_14580delTTC;NM_001042723.1:c.14563_14565delTTC;NP_000531.2:p.Phe4860del;NP_001036188.1:p.Phe4855del 252444713 118192145 CCORE_41 untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14578T>G NC_000019.9:g.39071076T>G;NG_008866.1:g.151737T>G;NM_000540.2:c.14578T>G;NM_001042723.1:c.14563T>G;NP_000531.2:p.Phe4860Val;NP_001036188.1:p.Phe4855Val 475871744 193922881 RYR1_00071 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14578_14580del NC_000019.9:g.39071076_39071078delTTC;NG_008866.1:g.151737_151739delTTC;NM_000540.2:c.14578_14580delTTC;NM_001042723.1:c.14563_14565delTTC;NP_000531.2:p.Phe4860del;NP_001036188.1:p.Phe4855del 475871745 118192145 RYR1_00237 untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14581C>T NC_000019.9:g.39071079C>T;NG_008866.1:g.151740C>T;NM_000540.2:c.14581C>T;NM_001042723.1:c.14566C>T;NP_000531.2:p.Arg4861Cys;NP_001036188.1:p.Arg4856Cys 252444751 118192181 CCORE_94 unknown pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14581C>T NC_000019.9:g.39071079C>T;NG_008866.1:g.151740C>T;NM_000540.2:c.14581C>T;NM_001042723.1:c.14566C>T;NP_000531.2:p.Arg4861Cys;NP_001036188.1:p.Arg4856Cys 475871746 118192181 RYR1_00229 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 NCBI-CURATED-RECORDS 6261 NM_000540.2:c.14582G>A NC_000019.9:g.39071080G>A;NG_008866.1:g.151741G>A;NM_000540.2:c.14582G>A;NM_001042723.1:c.14567G>A;NP_000531.2:p.Arg4861His;NP_001036188.1:p.Arg4856His 102664362 63749869 NM_000540.2:c.14582G>A germline pathogenic 2008.06.03 2008.06.06 2008.06.09 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14582G>A NC_000019.9:g.39071080G>A;NG_008866.1:g.151741G>A;NM_000540.2:c.14582G>A;NM_001042723.1:c.14567G>A;NP_000531.2:p.Arg4861His;NP_001036188.1:p.Arg4856His 252444750 63749869 CCORE_93 germline pathogenic 2010.07.15 2010.07.15 2008.06.09 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ARG4861HIS NC_000019.9:g.39071080G>A;NG_008866.1:g.151741G>A;NM_000540.2:c.14582G>A;NM_001042723.1:c.14567G>A;NP_000531.2:p.Arg4861His;NP_001036188.1:p.Arg4856His 275518444 63749869 5314 germline pathogenic 2010.12.08 2010.12.08 2008.06.09 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14582G>A NC_000019.9:g.39071080G>A;NG_008866.1:g.151741G>A;NM_000540.2:c.14582G>A;NM_001042723.1:c.14567G>A;NP_000531.2:p.Arg4861His;NP_001036188.1:p.Arg4856His 475871747 63749869 RYR1_00160 germline pathogenic 2011.11.25 2011.11.25 2008.06.09 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14587_14607del NC_000019.9:g.39071085_39071105del21;NG_008866.1:g.151746_151766del21;NM_000540.2:c.14587_14607del21;NM_001042723.1:c.14572_14592del21;NP_000531.2:p.Phe4863_Asp4869del;NP_001036188.1:p.Phe4858_Asp4864del 252444738 118192169 CCORE_77 pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14588_14605del NC_000019.9:g.39071086_39071103del18;NG_008866.1:g.151747_151764del18;NM_000540.2:c.14588_14605del18;NM_001042723.1:c.14573_14590del18;NP_000531.2:p.Phe4863_Asp4869delinsTyr;NP_001036188.1:p.Phe4858_Asp4864delinsTyr 475871748 193922882 RYR1_00220 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39071087C>T;NG_008866.1:g.151748C>T;NM_000540.2:c.14589C>T;NM_001042723.1:c.14574C>T;NP_000531.2:p.Phe4863=;NP_001036188.1:p.Phe4858= 342496694 146072491 ESP2500-chr19-39071087 5.50e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071087C>T;NG_008866.1:g.151748C>T;NM_000540.2:c.14589C>T;NM_001042723.1:c.14574C>T;NP_000531.2:p.Phe4863=;NP_001036188.1:p.Phe4858= 465587169 146072491 20101123_snps_11754399_chr19_39071087 5.50e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071087C>T;NG_008866.1:g.151748C>T;NM_000540.2:c.14589C>T;NM_001042723.1:c.14574C>T;NP_000531.2:p.Phe4863=;NP_001036188.1:p.Phe4858= 491158162 146072491 20110521_exome_665960_chr19_39071087 5.50e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39071087C>T;NG_008866.1:g.151748C>T;NM_000540.2:c.14589C>T;NM_001042723.1:c.14574C>T;NP_000531.2:p.Phe4863=;NP_001036188.1:p.Phe4858= 491766297 146072491 SNV-chr19-43762927 5.50e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14591A>G NC_000019.9:g.39071089A>G;NG_008866.1:g.151750A>G;NM_000540.2:c.14591A>G;NM_001042723.1:c.14576A>G;NP_000531.2:p.Tyr4864Cys;NP_001036188.1:p.Tyr4859Cys 252444714 118192146 CCORE_42 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14591A>G NC_000019.9:g.39071089A>G;NG_008866.1:g.151750A>G;NM_000540.2:c.14591A>G;NM_001042723.1:c.14576A>G;NP_000531.2:p.Tyr4864Cys;NP_001036188.1:p.Tyr4859Cys 475871749 118192146 RYR1_00193 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071100G>A;NG_008866.1:g.151761G>A;NM_000540.2:c.14602G>A;NM_001042723.1:c.14587G>A;NP_000531.2:p.Glu4868Lys;NP_001036188.1:p.Glu4863Lys 465587170 187569997 20101123_snps_11754400_chr19_39071100 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071100G>A;NG_008866.1:g.151761G>A;NM_000540.2:c.14602G>A;NM_001042723.1:c.14587G>A;NP_000531.2:p.Glu4868Lys;NP_001036188.1:p.Glu4863Lys 491158163 187569997 20110521_exome_665961_chr19_39071100 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 6261 NC_000019.9:g.39071100G>A;NG_008866.1:g.151761G>A;NM_000540.2:c.14602G>A;NM_001042723.1:c.14587G>A;NP_000531.2:p.Glu4868Lys;NP_001036188.1:p.Glu4863Lys 491546525 187569997 nonsyn_262751_chr_19_39071100 9.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 POPS 6261 NC_000019.9:g.39071125A>G;NG_008866.1:g.151786A>G;NM_000540.2:c.14627A>G;NM_001042723.1:c.14612A>G;NP_000531.2:p.Lys4876Arg;NP_001036188.1:p.Lys4871Arg 182258917 113210953 MHY17 unknown untested 2009.12.18 2009.12.18 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14627A>G NC_000019.9:g.39071125A>G;NG_008866.1:g.151786A>G;NM_000540.2:c.14627A>G;NM_001042723.1:c.14612A>G;NP_000531.2:p.Lys4876Arg;NP_001036188.1:p.Lys4871Arg 475871750 113210953 RYR1_00188 germline untested 2011.11.25 2011.11.25 2010.07.04 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14639T>C NC_000019.9:g.39071137T>C;NG_008866.1:g.151798T>C;NM_000540.2:c.14639T>C;NM_001042723.1:c.14624T>C;NP_000531.2:p.Met4880Thr;NP_001036188.1:p.Met4875Thr 475871751 193922883 RYR1_00203 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14645C>T NC_000019.9:g.39071143C>T;NG_008866.1:g.151804C>T;NM_000540.2:c.14645C>T;NM_001042723.1:c.14630C>T;NP_000531.2:p.Thr4882Met;NP_001036188.1:p.Thr4877Met 475871752 193922884 RYR1_00301 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ILLUMINA 6261 NC_000019.9:g.39071145G>T;NG_008866.1:g.151806G>T;NM_000540.2:c.14646+1G>T;NM_001042723.1:c.14631+1G>T 168988928 113685700 Human1M-Duov3_B_GA016308-0_B_F_1533447002 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 ILLUMINA 6261 NC_000019.9:g.39071146T>G;NG_008866.1:g.151807T>G;NM_000540.2:c.14646+2T>G;NM_001042723.1:c.14631+2T>G 169117458 112558164 Human1M-Duov3_B_GA034509-0_B_F_1533482184 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39071226G>A;NG_008866.1:g.151887G>A;NM_000540.2:c.14646+82G>A;NM_001042723.1:c.14631+82G>A 340454980 149623859 20100804_snps_12098521_chr19_39071226 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071255G>A;NG_008866.1:g.151916G>A;NM_000540.2:c.14646+111G>A;NM_001042723.1:c.14631+111G>A 465587171 191456087 20101123_snps_11754401_chr19_39071255 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 10933456 7254175 chr19.NT_011109.15_11339475 1.41e-01 2003.06.30 2003.11.10 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 115121137 7254175 NA19240_2008_12_16_3257683_chr19_43763097 1.41e-01 2008.12.19 2008.12.19 2003.07.11 2011.09.09 137 ILLUMINA-UK 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 117702747 7254175 NA18507_000043962_NCBI36.1_chr19_43763097 1.41e-01 2009.01.20 2009.01.20 2003.07.11 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 169709458 7254175 NA19240_36_chr19_43763097 1.41e-01 2009.10.01 2009.10.01 2003.07.11 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 203751130 7254175 BUSHMAN-chr19-43763096 1.41e-01 2010.03.09 2010.03.09 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 228136011 7254175 pilot_1_YRI_9945694_chr19_43763097 1.41e-01 2010.04.22 2010.04.22 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071257C>T;NG_008866.1:g.151918C>T;NM_000540.2:c.14646+113C>T;NM_001042723.1:c.14631+113C>T 243881177 7254175 pilot_1_CHB+JPT_5766254_chr19_43763097 1.41e-01 2010.05.01 2010.05.01 2003.07.11 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071276G>A;NG_008866.1:g.151937G>A;NM_000540.2:c.14646+132G>A;NM_001042723.1:c.14631+132G>A 465587172 181496998 20101123_snps_11754402_chr19_39071276 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39071338A>T;NG_008866.1:g.151999A>T;NM_000540.2:c.14646+194A>T;NM_001042723.1:c.14631+194A>T 340454981 144346875 20100804_snps_12098522_chr19_39071338 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071353C>T;NG_008866.1:g.152014C>T;NM_000540.2:c.14646+209C>T;NM_001042723.1:c.14631+209C>T 340454982 140114702 20100804_snps_12098523_chr19_39071353 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071412A>C;NG_008866.1:g.152073A>C;NM_000540.2:c.14646+268A>C;NM_001042723.1:c.14631+268A>C 340454983 142248735 20100804_snps_12098524_chr19_39071412 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 10933965 7254460 chr19.NT_011109.15_11339736 1.63e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 115121144 7254460 NA19240_2008_12_16_3257684_chr19_43763358 1.63e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 117702749 7254460 NA18507_000043963_NCBI36.1_chr19_43763358 1.63e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 169709472 7254460 NA19240_36_chr19_43763358 1.63e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 203751131 7254460 BUSHMAN-chr19-43763357 1.63e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 228136012 7254460 pilot_1_YRI_9945695_chr19_43763358 1.63e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 243881178 7254460 pilot_1_CHB+JPT_5766255_chr19_43763358 1.63e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39071518A>G;NG_008866.1:g.152179A>G;NM_000540.2:c.14646+374A>G;NM_001042723.1:c.14631+374A>G 283206243 7254460 GMI_AK_SNP_7526664 1.63e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39071539_39071540insT;NG_008866.1:g.152200_152201insT;NM_000540.2:c.14646+395_14646+396insT;NM_001042723.1:c.14631+395_14631+396insT 96281054 74176451 1103691141987 2008.03.26 2008.03.26 2009.02.16 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071625G>A;NG_008866.1:g.152286G>A;NM_000540.2:c.14646+481G>A;NM_001042723.1:c.14631+481G>A 340454984 146381604 20100804_snps_12098525_chr19_39071625 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39071631T>C;NG_008866.1:g.152292T>C;NM_000540.2:c.14646+487T>C;NM_001042723.1:c.14631+487T>C 169709487 112131190 NA19240_36_chr19_43763471 1.46e-01 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39071631T>C;NG_008866.1:g.152292T>C;NM_000540.2:c.14646+487T>C;NM_001042723.1:c.14631+487T>C 203751132 112131190 BUSHMAN-chr19-43763470 1.46e-01 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39071631T>C;NG_008866.1:g.152292T>C;NM_000540.2:c.14646+487T>C;NM_001042723.1:c.14631+487T>C 283206244 112131190 GMI_AK_SNP_7526665 1.46e-01 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39071631T>C;NG_008866.1:g.152292T>C;NM_000540.2:c.14646+487T>C;NM_001042723.1:c.14631+487T>C 340454985 112131190 20100804_snps_12098526_chr19_39071631 1.46e-01 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39071651G>A;NG_008866.1:g.152312G>A;NM_000540.2:c.14646+507G>A;NM_001042723.1:c.14631+507G>A 171754339 111651702 NA20431_36_chr19_43763491 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071835T>A;NG_008866.1:g.152496T>A;NM_000540.2:c.14646+691T>A;NM_001042723.1:c.14631+691T>A 340454986 142790774 20100804_snps_12098527_chr19_39071835 4.58e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071845G>A;NG_008866.1:g.152506G>A;NM_000540.2:c.14646+701G>A;NM_001042723.1:c.14631+701G>A 340454987 151070010 20100804_snps_12098528_chr19_39071845 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39071882A>T;NG_008866.1:g.152543A>T;NM_000540.2:c.14646+738A>T;NM_001042723.1:c.14631+738A>T 465587173 185979403 20101123_snps_11754403_chr19_39071882 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39071959C>T;NG_008866.1:g.152620C>T;NM_000540.2:c.14646+815C>T;NM_001042723.1:c.14631+815C>T 340454988 139758956 20100804_snps_12098529_chr19_39071959 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39072008C>T;NG_008866.1:g.152669C>T;NM_000540.2:c.14646+864C>T;NM_001042723.1:c.14631+864C>T 465587174 190095616 20101123_snps_11754404_chr19_39072008 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39072037A>G;NG_008866.1:g.152698A>G;NM_000540.2:c.14646+893A>G;NM_001042723.1:c.14631+893A>G 283206245 182683326 GMI_AK_SNP_7526666 1.40e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072037A>G;NG_008866.1:g.152698A>G;NM_000540.2:c.14646+893A>G;NM_001042723.1:c.14631+893A>G 465587175 182683326 20101123_snps_11754405_chr19_39072037 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072041G>A;NG_008866.1:g.152702G>A;NM_000540.2:c.14646+897G>A;NM_001042723.1:c.14631+897G>A 465587176 187466159 20101123_snps_11754406_chr19_39072041 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 82649902 59812056 Cor18555_SNV_20070510.chr19_43764002 1.63e-01 2007.12.03 2007.12.03 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 115121161 59812056 NA19240_2008_12_16_3257686_chr19_43764002 1.63e-01 2008.12.19 2008.12.19 2007.12.15 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 117702751 59812056 NA18507_000043964_NCBI36.1_chr19_43764002 1.63e-01 2009.01.20 2009.01.20 2007.12.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 169709501 59812056 NA19240_36_chr19_43764002 1.63e-01 2009.10.01 2009.10.01 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 203751133 59812056 BUSHMAN-chr19-43764001 1.63e-01 2010.03.09 2010.03.09 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 228136013 59812056 pilot_1_YRI_9945696_chr19_43764002 1.63e-01 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 243881179 59812056 pilot_1_CHB+JPT_5766256_chr19_43764002 1.63e-01 2010.05.01 2010.05.01 2007.12.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39072162A>G;NG_008866.1:g.152823A>G;NM_000540.2:c.14646+1018A>G;NM_001042723.1:c.14631+1018A>G 283206246 59812056 GMI_AK_SNP_7526667 1.63e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072205C>G;NG_008866.1:g.152866C>G;NM_000540.2:c.14646+1061C>G;NM_001042723.1:c.14631+1061C>G 211962672 115347874 YRI.trio.3.2010_1440273_chr19_43764045 9.34e-02 2010.03.31 2010.03.31 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072205C>G;NG_008866.1:g.152866C>G;NM_000540.2:c.14646+1061C>G;NM_001042723.1:c.14631+1061C>G 228136014 115347874 pilot_1_YRI_9945697_chr19_43764045 9.34e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072205C>G;NG_008866.1:g.152866C>G;NM_000540.2:c.14646+1061C>G;NM_001042723.1:c.14631+1061C>G 237674388 115347874 pilot_1_CEU_7279017_chr19_43764045 9.34e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072205C>G;NG_008866.1:g.152866C>G;NM_000540.2:c.14646+1061C>G;NM_001042723.1:c.14631+1061C>G 243881180 115347874 pilot_1_CHB+JPT_5766257_chr19_43764045 9.34e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GMI 6261 NC_000019.9:g.39072205C>G;NG_008866.1:g.152866C>G;NM_000540.2:c.14646+1061C>G;NM_001042723.1:c.14631+1061C>G 283206247 115347874 GMI_AK_SNP_7526668 9.34e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072206G>A;NG_008866.1:g.152867G>A;NM_000540.2:c.14646+1062G>A;NM_001042723.1:c.14631+1062G>A 340454989 149788900 20100804_snps_12098530_chr19_39072206 1.28e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 6261 NC_000019.9:g.39072279C>T;NG_008866.1:g.152940C>T;NM_000540.2:c.14646+1135C>T;NM_001042723.1:c.14631+1135C>T 255669134 138351255 SNP49773_19_43764119 9.20e-02 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 6261 NC_000019.9:g.39072279C>T;NG_008866.1:g.152940C>T;NM_000540.2:c.14646+1135C>T;NM_001042723.1:c.14631+1135C>T 283206248 138351255 GMI_AK_SNP_7526669 9.20e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072279C>T;NG_008866.1:g.152940C>T;NM_000540.2:c.14646+1135C>T;NM_001042723.1:c.14631+1135C>T 340454990 138351255 20100804_snps_12098531_chr19_39072279 9.20e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072355T>C;NG_008866.1:g.153016T>C;NM_000540.2:c.14646+1211T>C;NM_001042723.1:c.14631+1211T>C 465587177 191037639 20101123_snps_11754407_chr19_39072355 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39072386A>C;NG_008866.1:g.153047A>C;NM_000540.2:c.14646+1242A>C;NM_001042723.1:c.14631+1242A>C 340454991 141293643 20100804_snps_12098532_chr19_39072386 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39072438G>A;NG_008866.1:g.153099G>A;NM_000540.2:c.14646+1294G>A;NM_001042723.1:c.14631+1294G>A 168184304 112308583 NA07022_36_chr19_43764278 3.70e-03 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072438G>A;NG_008866.1:g.153099G>A;NM_000540.2:c.14646+1294G>A;NM_001042723.1:c.14631+1294G>A 465587178 112308583 20101123_snps_11754408_chr19_39072438 3.70e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072440G>T;NG_008866.1:g.153101G>T;NM_000540.2:c.14646+1296G>T;NM_001042723.1:c.14631+1296G>T 465587179 189116097 20101123_snps_11754409_chr19_39072440 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 6261 NC_000019.9:g.39072528G>C;NG_008866.1:g.153189G>C;NM_000540.2:c.14646+1384G>C;NM_001042723.1:c.14631+1384G>C 137670675 79216186 ENSSNP11444432 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 GMI 6261 NC_000019.9:g.39072532G>C;NG_008866.1:g.153193G>C;NM_000540.2:c.14646+1388G>C;NM_001042723.1:c.14631+1388G>C 283206249 200463283 GMI_AK_SNP_7526670 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39072535A>G;NG_008866.1:g.153196A>G;NM_000540.2:c.14646+1391A>G;NM_001042723.1:c.14631+1391A>G 465587180 192622050 20101123_snps_11754410_chr19_39072535 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39072585A>T;NG_008866.1:g.153246A>T;NM_000540.2:c.14646+1441A>T;NM_001042723.1:c.14631+1441A>T 228136015 116815462 pilot_1_YRI_9945698_chr19_43764425 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39072645C>T;NG_008866.1:g.153306C>T;NM_000540.2:c.14646+1501C>T;NM_001042723.1:c.14631+1501C>T 243881182 79979084 pilot_1_CHB+JPT_5766259_chr19_43764485 2.06e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39072766G>A;NG_008866.1:g.153427G>A;NM_000540.2:c.14646+1622G>A;NM_001042723.1:c.14631+1622G>A 340454992 147021399 20100804_snps_12098533_chr19_39072766 1.37e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 40975341 35458693 hCV32823663 1.90e-01 2005.07.17 2005.07.17 2006.03.15 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 90970044 35458693 JWB-1168243 1.90e-01 2008.03.01 2008.03.01 2006.03.15 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 96305741 35458693 1103691141988 1.90e-01 2008.03.26 2008.03.26 2006.03.15 2012.11.28 137 ENSEMBL 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 143745692 35458693 ENSSNP5357856 1.90e-01 2009.06.06 2009.10.17 2006.03.15 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 169709516 35458693 NA19240_36_chr19_43764615 1.90e-01 2009.10.01 2009.10.01 2006.03.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 203751134 35458693 BUSHMAN-chr19-43764614 1.90e-01 2010.03.09 2010.03.09 2006.03.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 283206250 35458693 GMI_AK_SNP_7526671 1.90e-01 2010.12.16 2010.12.16 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072775T>C;NG_008866.1:g.153436T>C;NM_000540.2:c.14646+1631T>C;NM_001042723.1:c.14631+1631T>C 340454993 35458693 20100804_snps_12098534_chr19_39072775 1.90e-01 2011.03.22 2011.03.22 2006.03.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072827T>C;NG_008866.1:g.153488T>C;NM_000540.2:c.14646+1683T>C;NM_001042723.1:c.14631+1683T>C 340454994 141989504 20100804_snps_12098535_chr19_39072827 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39072920C>T;NG_008866.1:g.153581C>T;NM_000540.2:c.14646+1776C>T;NM_001042723.1:c.14631+1776C>T 283206251 143019709 GMI_AK_SNP_7526672 2.30e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072920C>T;NG_008866.1:g.153581C>T;NM_000540.2:c.14646+1776C>T;NM_001042723.1:c.14631+1776C>T 340454995 143019709 20100804_snps_12098536_chr19_39072920 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 HGSV 6261 NC_000019.9:g.39072923G>A;NG_008866.1:g.153584G>A;NM_000540.2:c.14646+1779G>A;NM_001042723.1:c.14631+1779G>A 77475255 55800808 Cor12156_SNV_20070510.chr19_43764763 9.00e-04 2007.10.13 2007.10.13 2007.12.06 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39072923G>A;NG_008866.1:g.153584G>A;NM_000540.2:c.14646+1779G>A;NM_001042723.1:c.14631+1779G>A 465587181 55800808 20101123_snps_11754411_chr19_39072923 9.00e-04 2011.07.20 2011.07.20 2007.12.06 2012.11.28 137 GMI 6261 NC_000019.9:g.39072935G>A;NG_008866.1:g.153596G>A;NM_000540.2:c.14646+1791G>A;NM_001042723.1:c.14631+1791G>A 283206252 200257368 GMI_AK_SNP_7526673 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ABI 6261 NC_000019.9:g.39073038delA;NG_008866.1:g.153699delA;NM_000540.2:c.14646+1894delA;NM_001042723.1:c.14631+1894delA 41003284 35152797 hCV32823664 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39073052A>G;NG_008866.1:g.153713A>G;NM_000540.2:c.14646+1908A>G;NM_001042723.1:c.14631+1908A>G 465587182 187665147 20101123_snps_11754412_chr19_39073052 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39073109C>G;NG_008866.1:g.153770C>G;NM_000540.2:c.14646+1965C>G;NM_001042723.1:c.14631+1965C>G 465587183 191741281 20101123_snps_11754413_chr19_39073109 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39073147C>A;NG_008866.1:g.153808C>A;NM_000540.2:c.14646+2003C>A;NM_001042723.1:c.14631+2003C>A 340454996 148184839 20100804_snps_12098537_chr19_39073147 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 10935144 6508809 chr19.NT_011109.15_11341369 1.64e-01 2003.06.30 2003.11.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 12465442 6508809 chr19.NT_011109.15_11341369 1.64e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 75032390 6508809 ILMN_Human_1M_rs6508809 1.64e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 117702753 6508809 NA18507_000043965_NCBI36.1_chr19_43764991 1.64e-01 2009.01.20 2009.01.20 2003.07.11 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 119513364 6508809 KHS1675611 1.64e-01 2009.02.04 2009.02.04 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 160782053 6508809 HumanOmni1-Quad_v1-0_B_rs6508809-128_B_F_1514010933 1.64e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 169709528 6508809 NA19240_36_chr19_43764991 1.64e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 174022255 6508809 Human1M-Duov3_B_rs6508809-128_B_F_1514010933 1.64e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 203751135 6508809 BUSHMAN-chr19-43764990 1.64e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 228136016 6508809 pilot_1_YRI_9945699_chr19_43764991 1.64e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 237674390 6508809 pilot_1_CEU_7279019_chr19_43764991 1.64e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 243881183 6508809 pilot_1_CHB+JPT_5766260_chr19_43764991 1.64e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 283206253 6508809 GMI_AK_SNP_7526674 1.64e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 481267844 6508809 HumanOmni2.5-4v1_B_rs6508809-128_B_F_1514010933 1.64e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 481292205 6508809 HumanOmniExpress-12v1_C_rs6508809-131_B_F_1856976710 1.64e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 482276012 6508809 HumanOmni1-Quad_v1-0_C_rs6508809-131_B_F_1856976710 1.64e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39073151C>T;NG_008866.1:g.153812C>T;NM_000540.2:c.14646+2007C>T;NM_001042723.1:c.14631+2007C>T 485429179 6508809 HumanOmni2.5-4v1_D_rs6508809-131_B_F_1856976710 1.64e-01 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073213C>T;NG_008866.1:g.153874C>T;NM_000540.2:c.14646+2069C>T;NM_001042723.1:c.14631+2069C>T 228136017 115334687 pilot_1_YRI_9945700_chr19_43765053 1.19e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39073248G>A;NG_008866.1:g.153909G>A;NM_000540.2:c.14646+2104G>A;NM_001042723.1:c.14631+2104G>A 340454997 140219611 20100804_snps_12098538_chr19_39073248 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39073308T>G;NG_008866.1:g.153969T>G;NM_000540.2:c.14646+2164T>G;NM_001042723.1:c.14631+2164T>G 340454998 150310785 20100804_snps_12098539_chr19_39073308 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39073374C>T;NG_008866.1:g.154035C>T;NM_000540.2:c.14647-2209C>T;NM_001042723.1:c.14632-2209C>T 465587184 184913995 20101123_snps_11754414_chr19_39073374 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39073515C>A;NG_008866.1:g.154176C>A;NM_000540.2:c.14647-2068C>A;NM_001042723.1:c.14632-2068C>A 340454999 138968417 20100804_snps_12098540_chr19_39073515 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39073528T>C;NG_008866.1:g.154189T>C;NM_000540.2:c.14647-2055T>C;NM_001042723.1:c.14632-2055T>C 465587185 189068942 20101123_snps_11754415_chr19_39073528 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39073554G>A;NG_008866.1:g.154215G>A;NM_000540.2:c.14647-2029G>A;NM_001042723.1:c.14632-2029G>A 340455000 142134147 20100804_snps_12098541_chr19_39073554 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39073696G>A;NG_008866.1:g.154357G>A;NM_000540.2:c.14647-1887G>A;NM_001042723.1:c.14632-1887G>A 340455001 146407332 20100804_snps_12098542_chr19_39073696 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LUMC-LOVD 6261 NM_000540.2:c.14647-1876C>T NC_000019.9:g.39073707C>T;NG_008866.1:g.154368C>T;NM_000540.2:c.14647-1876C>T;NM_001042723.1:c.14632-1876C>T 475871753 193922885 RYR1_00314 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 ABI 6261 NC_000019.9:g.39073793_39073794insG;NG_008866.1:g.154454_154455insG;NM_000540.2:c.14647-1790_14647-1789insG;NM_001042723.1:c.14632-1790_14632-1789insG 40962118 35587879 hCV32823665 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39073855T>G;NG_008866.1:g.154516T>G;NM_000540.2:c.14647-1728T>G;NM_001042723.1:c.14632-1728T>G 465587186 180975051 20101123_snps_11754416_chr19_39073855 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39073886G>A;NG_008866.1:g.154547G>A;NM_000540.2:c.14647-1697G>A;NM_001042723.1:c.14632-1697G>A 169709547 113613661 NA19240_36_chr19_43765726 4.53e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073886G>A;NG_008866.1:g.154547G>A;NM_000540.2:c.14647-1697G>A;NM_001042723.1:c.14632-1697G>A 340455002 113613661 20100804_snps_12098543_chr19_39073886 4.53e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39073990G>A;NG_008866.1:g.154651G>A;NM_000540.2:c.14647-1593G>A;NM_001042723.1:c.14632-1593G>A 340455003 149570857 20100804_snps_12098544_chr19_39073990 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39074089G>A;NG_008866.1:g.154750G>A;NM_000540.2:c.14647-1494G>A;NM_001042723.1:c.14632-1494G>A 340455004 144241132 20100804_snps_12098545_chr19_39074089 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39074101G>C;NG_008866.1:g.154762G>C;NM_000540.2:c.14647-1482G>C;NM_001042723.1:c.14632-1482G>C 340455005 148709418 20100804_snps_12098546_chr19_39074101 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 15203674 11325385 INDEL_GP34_WGS_319714 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 80842821 11325385 Cor12878_DIV_20070510.chr19_43765971-43765973_1 2007.11.26 2007.11.26 2004.02.28 2012.11.28 137 HGSV 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 82581280 11325385 Cor19240_DIV_20070510.chr19_43765971-43765973_1 2007.12.03 2007.12.03 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 95728356 11325385 1104685411632 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 100128400 11325385 INDEL_GP36_2008a_467328_0 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 100128404 11325385 INDEL_GP36_2008a_467328_1 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 100128407 11325385 INDEL_GP36_2008a_467328_2 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 100128409 11325385 INDEL_GP36_2008a_467328_3 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 BL 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 256205668 11325385 SNP3824_19_43765957 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 289387924 11325385 GMI_AK_INDEL_1065381 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 294962557 11325385 DIP_400261_chr19_43765958 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 PJP 6261 NC_000019.9:g.39074118delA;NG_008866.1:g.154779delA;NM_000540.2:c.14647-1465delA;NM_001042723.1:c.14632-1465delA 294962558 11325385 DIP_400262_chr19_43765972 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14647-1449A>G NC_000019.9:g.39074134A>G;NG_008866.1:g.154795A>G;NM_000540.2:c.14647-1449A>G;NM_001042723.1:c.14632-1449A>G 475871754 193922886 RYR1_00020 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39074173C>T;NG_008866.1:g.154834C>T;NM_000540.2:c.14647-1410C>T;NM_001042723.1:c.14632-1410C>T 465587187 184499817 20101123_snps_11754417_chr19_39074173 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39074182delC;NG_008866.1:g.154843delC;NM_000540.2:c.14647-1401delC;NM_001042723.1:c.14632-1401delC 499576495 200280451 20110316_indels_chr19_39074181_39074181 1.14e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 PJP 6261 NC_000019.9:g.39074192G>A;NG_008866.1:g.154853G>A;NM_000540.2:c.14647-1391G>A;NM_001042723.1:c.14632-1391G>A 292248577 146365313 SNP_1754935_chr19_43766032 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39074196C>T;NG_008866.1:g.154857C>T;NM_000540.2:c.14647-1387C>T;NM_001042723.1:c.14632-1387C>T 203751136 112763643 BUSHMAN-chr19-43766035 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39074205G>A;NG_008866.1:g.154866G>A;NM_000540.2:c.14647-1378G>A;NM_001042723.1:c.14632-1378G>A 228136020 75371250 pilot_1_YRI_9945703_chr19_43766045 4.10e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39074206C>T;NG_008866.1:g.154867C>T;NM_000540.2:c.14647-1377C>T;NM_001042723.1:c.14632-1377C>T 340455006 142356610 20100804_snps_12098547_chr19_39074206 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 6261 NC_000019.9:g.39074325_39074326insG;NG_008866.1:g.154986_154987insG;NM_000540.2:c.14647-1258_14647-1257insG;NM_001042723.1:c.14632-1258_14632-1257insG 41037064 35348884 hCV32823666 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39074408C>G;NG_008866.1:g.155069C>G;NM_000540.2:c.14647-1175C>G;NM_001042723.1:c.14632-1175C>G 465587188 189249129 20101123_snps_11754418_chr19_39074408 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39074418A>T;NG_008866.1:g.155079A>T;NM_000540.2:c.14647-1165A>T;NM_001042723.1:c.14632-1165A>T 84054916 58631698 Cor19240_SNV_20070510.chr19_43766258 2007.12.06 2007.12.06 2007.12.15 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39074492C>G;NG_008866.1:g.155153C>G;NM_000540.2:c.14647-1091C>G;NM_001042723.1:c.14632-1091C>G 203751137 113415654 BUSHMAN-chr19-43766331 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39074493G>A;NG_008866.1:g.155154G>A;NM_000540.2:c.14647-1090G>A;NM_001042723.1:c.14632-1090G>A 340455007 147481552 20100804_snps_12098548_chr19_39074493 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39074495G>A;NG_008866.1:g.155156G>A;NM_000540.2:c.14647-1088G>A;NM_001042723.1:c.14632-1088G>A 465587189 182032458 20101123_snps_11754419_chr19_39074495 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39074674T>G;NG_008866.1:g.155335T>G;NM_000540.2:c.14647-909T>G;NM_001042723.1:c.14632-909T>G 465587190 185830771 20101123_snps_11754420_chr19_39074674 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 6261 NC_000019.9:g.39074713C>G;NG_008866.1:g.155374C>G;NM_000540.2:c.14647-870C>G;NM_001042723.1:c.14632-870C>G 35193406 28437841 TA-079.chr19_43766553 7.55e-02 2005.03.11 2005.05.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074713C>G;NG_008866.1:g.155374C>G;NM_000540.2:c.14647-870C>G;NM_001042723.1:c.14632-870C>G 228136021 28437841 pilot_1_YRI_9945704_chr19_43766553 7.55e-02 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074713C>G;NG_008866.1:g.155374C>G;NM_000540.2:c.14647-870C>G;NM_001042723.1:c.14632-870C>G 243881184 28437841 pilot_1_CHB+JPT_5766261_chr19_43766553 7.55e-02 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 GMI 6261 NC_000019.9:g.39074713C>G;NG_008866.1:g.155374C>G;NM_000540.2:c.14647-870C>G;NM_001042723.1:c.14632-870C>G 283206254 28437841 GMI_AK_SNP_7526675 7.55e-02 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074770G>A;NG_008866.1:g.155431G>A;NM_000540.2:c.14647-813G>A;NM_001042723.1:c.14632-813G>A 465587191 188980516 20101123_snps_11754421_chr19_39074770 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39074798C>T;NG_008866.1:g.155459C>T;NM_000540.2:c.14647-785C>T;NM_001042723.1:c.14632-785C>T 340455008 139714161 20100804_snps_12098549_chr19_39074798 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39074936delC;NG_008866.1:g.155597delC;NM_000540.2:c.14647-647delC;NM_001042723.1:c.14632-647delC 327903820 143555010 JPTCHB_chr19_43766775_indel 1.71e-01 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074936delC;NG_008866.1:g.155597delC;NM_000540.2:c.14647-647delC;NM_001042723.1:c.14632-647delC 328276266 143555010 YRI_chr19_43766775_indel 1.71e-01 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074936delC;NG_008866.1:g.155597delC;NM_000540.2:c.14647-647delC;NM_001042723.1:c.14632-647delC 499576499 143555010 20110316_indels_chr19_39074935_39074935 1.71e-01 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39074969G>A;NG_008866.1:g.155630G>A;NM_000540.2:c.14647-614G>A;NM_001042723.1:c.14632-614G>A 340455010 147650548 20100804_snps_12098551_chr19_39074969 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 6261 NC_000019.9:g.39074983_39074991delTCCATCCCG;NG_008866.1:g.155644_155652delTCCATCCCG;NM_000540.2:c.14647-600_14647-592delTCCATCCCG;NM_001042723.1:c.14632-600_14632-592delTCCATCCCG 289387925 201964162 GMI_AK_INDEL_1065382 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39074991G>A;NG_008866.1:g.155652G>A;NM_000540.2:c.14647-592G>A;NM_001042723.1:c.14632-592G>A 340455011 142290738 20100804_snps_12098552_chr19_39074991 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39075064G>A;NG_008866.1:g.155725G>A;NM_000540.2:c.14647-519G>A;NM_001042723.1:c.14632-519G>A 14698466 10406615 chr19.NT_011109.15_11343282 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39075069C>T;NG_008866.1:g.155730C>T;NM_000540.2:c.14647-514C>T;NM_001042723.1:c.14632-514C>T 243881185 117580895 pilot_1_CHB+JPT_5766262_chr19_43766909 5.49e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BCM_SSAHASNP 6261 NC_000019.9:g.39075072T>A;NG_008866.1:g.155733T>A;NM_000540.2:c.14647-511T>A;NM_001042723.1:c.14632-511T>A 14700298 10407818 chr19.NT_011109.15_11343290 2003.11.10 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39075079G>A;NG_008866.1:g.155740G>A;NM_000540.2:c.14647-504G>A;NM_001042723.1:c.14632-504G>A 465587192 181103986 20101123_snps_11754422_chr19_39075079 4.62e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39075204delC;NG_008866.1:g.155865delC;NM_000540.2:c.14647-379delC;NM_001042723.1:c.14632-379delC 40982953 35717825 hCV32823667 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39075219C>T;NG_008866.1:g.155880C>T;NM_000540.2:c.14647-364C>T;NM_001042723.1:c.14632-364C>T 243881186 117861460 pilot_1_CHB+JPT_5766263_chr19_43767059 2.43e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39075237G>A;NG_008866.1:g.155898G>A;NM_000540.2:c.14647-346G>A;NM_001042723.1:c.14632-346G>A 228136022 116321707 pilot_1_YRI_9945705_chr19_43767077 1.19e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39075253C>T;NG_008866.1:g.155914C>T;NM_000540.2:c.14647-330C>T;NM_001042723.1:c.14632-330C>T 465587193 186649472 20101123_snps_11754423_chr19_39075253 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 6261 NC_000019.9:g.39075275C>G;NG_008866.1:g.155936C>G;NM_000540.2:c.14647-308C>G;NM_001042723.1:c.14632-308C>G 84136978 59394799 Cor19240_SNV_20070510.chr19_43767115 1.24e-02 2007.12.06 2007.12.06 2007.12.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075275C>G;NG_008866.1:g.155936C>G;NM_000540.2:c.14647-308C>G;NM_001042723.1:c.14632-308C>G 465587194 59394799 20101123_snps_11754424_chr19_39075275 1.24e-02 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39075292_39075293delTT;NG_008866.1:g.155953_155954delTT;NM_000540.2:c.14647-291_14647-290delTT;NM_001042723.1:c.14632-291_14632-290delTT 193510377 112047209 BUSHMAN-chr19-43767131-43767133 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39075307C>G;NG_008866.1:g.155968C>G;NM_000540.2:c.14647-276C>G;NM_001042723.1:c.14632-276C>G 465587195 182768114 20101123_snps_11754425_chr19_39075307 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 6261 NC_000019.9:g.39075320_39075321insC;NG_008866.1:g.155981_155982insC;NM_000540.2:c.14647-263_14647-262insC;NM_001042723.1:c.14632-263_14632-262insC 41001142 35851311 hCV32823668 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BUSHMAN 6261 NC_000019.9:g.39075353G>A;NG_008866.1:g.156014G>A;NM_000540.2:c.14647-230G>A;NM_001042723.1:c.14632-230G>A 203751138 112366639 BUSHMAN-chr19-43767192 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39075380C>G;NG_008866.1:g.156041C>G;NM_000540.2:c.14647-203C>G;NM_001042723.1:c.14632-203C>G 465587196 186064378 20101123_snps_11754426_chr19_39075380 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 14701629 10408694 chr19.NT_011109.15_11343610 1.96e-01 2003.11.10 2004.10.21 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 65804342 10408694 Human1-rs10408694 1.96e-01 2006.10.10 2006.10.10 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 66881994 10408694 HumanHap550v1.1_rs10408694 1.96e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 66974394 10408694 HumanHap650Yv1.0_rs10408694 1.96e-01 2006.11.14 2006.11.14 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 68084036 10408694 HumanHap250Sv1.0_rs10408694 1.96e-01 2006.12.06 2006.12.07 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 70477704 10408694 HumanHap550v3.0__rs10408694 1.96e-01 2007.04.20 2008.03.29 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 71000838 10408694 HumanHap650Yv3.0_rs10408694 1.96e-01 2007.04.23 2007.04.23 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 75857469 10408694 ILMN_Human_1M_rs10408694 1.96e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 83907059 10408694 Cor18555_SNV_20070510.chr19_43767232 1.96e-01 2007.12.06 2007.12.06 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 84934789 10408694 KHS852855 1.96e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 115121186 10408694 NA19240_2008_12_16_3257689_chr19_43767232 1.96e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 117702756 10408694 NA18507_000043966_NCBI36.1_chr19_43767232 1.96e-01 2009.01.20 2009.01.20 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 152719688 10408694 Human610_Quadv1_B_rs10408694-119_T_R_1502071624 1.96e-01 2009.06.18 2009.06.19 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 159122354 10408694 Human660W-Quad_v1_A_rs10408694-119_T_R_1502071624 1.96e-01 2009.07.06 2009.07.06 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 170033645 10408694 Human1M-Duov3_B_rs10408694-119_T_R_1502071624 1.96e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 203751139 10408694 BUSHMAN-chr19-43767231 1.96e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 228136023 10408694 pilot_1_YRI_9945706_chr19_43767232 1.96e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 243881187 10408694 pilot_1_CHB+JPT_5766264_chr19_43767232 1.96e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 479258436 10408694 HumanOmni2.5-4v1_B_rs10408694-128_T_R_1776975070 1.96e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 479261366 10408694 HumanOmniExpress-12v1_C_rs10408694-131_T_R_1857077792 1.96e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39075392T>C;NG_008866.1:g.156053T>C;NM_000540.2:c.14647-191T>C;NM_001042723.1:c.14632-191T>C 484429923 10408694 HumanOmni2.5-4v1_D_rs10408694-131_T_R_1857077792 1.96e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 SC_JCM 6261 NC_000019.9:g.39075523C>T;NG_008866.1:g.156184C>T;NM_000540.2:c.14647-60C>T;NM_001042723.1:c.14632-60C>T 11334501 7507518 chr19.NT_011109.15_11343741 germline untested 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 ABI 6261 NC_000019.9:g.39075523C>T;NG_008866.1:g.156184C>T;NM_000540.2:c.14647-60C>T;NM_001042723.1:c.14632-60C>T 44176774 7507518 hCV32308093 unknown untested 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14647-60C>T NC_000019.9:g.39075523C>T;NG_008866.1:g.156184C>T;NM_000540.2:c.14647-60C>T;NM_001042723.1:c.14632-60C>T 475871755 7507518 RYR1_00387 germline untested 2011.11.25 2011.11.25 2003.07.11 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075547G>A;NG_008866.1:g.156208G>A;NM_000540.2:c.14647-36G>A;NM_001042723.1:c.14632-36G>A 228136024 114134909 pilot_1_YRI_9945707_chr19_43767387 1.28e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075547G>A;NG_008866.1:g.156208G>A;NM_000540.2:c.14647-36G>A;NM_001042723.1:c.14632-36G>A 491158164 114134909 20110521_exome_665962_chr19_39075547 1.28e-02 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 BCMHGSC_JDW 6261 NC_000019.9:g.39075559G>T;NG_008866.1:g.156220G>T;NM_000540.2:c.14647-24G>T;NM_001042723.1:c.14632-24G>T 90970046 62120351 JWB-2965870 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 6261 NC_000019.9:g.39075559G>T;NG_008866.1:g.156220G>T;NM_000540.2:c.14647-24G>T;NM_001042723.1:c.14632-24G>T 137670679 62120351 ENSSNP7172092 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 GENEREVIEWS 6261 NM_000540.2:c.14659C>T NC_000019.9:g.39075595C>T;NG_008866.1:g.156256C>T;NM_000540.2:c.14659C>T;NM_001042723.1:c.14644C>T;NP_000531.2:p.His4887Tyr;NP_001036188.1:p.His4882Tyr 252444715 118192147 CCORE_43 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14659C>T NC_000019.9:g.39075595C>T;NG_008866.1:g.156256C>T;NM_000540.2:c.14659C>T;NM_001042723.1:c.14644C>T;NP_000531.2:p.His4887Tyr;NP_001036188.1:p.His4882Tyr 475871756 118192147 RYR1_00297 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14667C>G NC_000019.9:g.39075603C>G;NG_008866.1:g.156264C>G;NM_000540.2:c.14667C>G;NM_001042723.1:c.14652C>G;NP_000531.2:p.Tyr4889Ter;NP_001036188.1:p.Tyr4884Ter 475871757 193922887 RYR1_00292 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14671G>C NC_000019.9:g.39075607G>C;NG_008866.1:g.156268G>C;NM_000540.2:c.14671G>C;NM_001042723.1:c.14656G>C;NP_000531.2:p.Gly4891Arg;NP_001036188.1:p.Gly4886Arg 252444717 118192149 CCORE_46 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14671G>C NC_000019.9:g.39075607G>C;NG_008866.1:g.156268G>C;NM_000540.2:c.14671G>C;NM_001042723.1:c.14656G>C;NP_000531.2:p.Gly4891Arg;NP_001036188.1:p.Gly4886Arg 475871758 118192149 RYR1_00216 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14677C>G NC_000019.9:g.39075613C>G;NC_000019.9:g.39075613C>T;NG_008866.1:g.156274C>G;NG_008866.1:g.156274C>T;NM_000540.2:c.14677C>G;NM_000540.2:c.14677C>T;NM_001042723.1:c.14662C>G;NM_001042723.1:c.14662C>T;NP_000531.2:p.Arg4893Gly;NP_000531.2:p.Arg4893Trp;NP_001036188.1:p.Arg4888Gly;NP_001036188.1:p.Arg4888Trp 252444718 118192150 CCORE_47 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14677C>T NC_000019.9:g.39075613C>G;NC_000019.9:g.39075613C>T;NG_008866.1:g.156274C>G;NG_008866.1:g.156274C>T;NM_000540.2:c.14677C>G;NM_000540.2:c.14677C>T;NM_001042723.1:c.14662C>G;NM_001042723.1:c.14662C>T;NP_000531.2:p.Arg4893Gly;NP_000531.2:p.Arg4893Trp;NP_001036188.1:p.Arg4888Gly;NP_001036188.1:p.Arg4888Trp 252444752 118192150 CCORE_95 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14677C>T NC_000019.9:g.39075613C>G;NC_000019.9:g.39075613C>T;NG_008866.1:g.156274C>G;NG_008866.1:g.156274C>T;NM_000540.2:c.14677C>G;NM_000540.2:c.14677C>T;NM_001042723.1:c.14662C>G;NM_001042723.1:c.14662C>T;NP_000531.2:p.Arg4893Gly;NP_000531.2:p.Arg4893Trp;NP_001036188.1:p.Arg4888Gly;NP_001036188.1:p.Arg4888Trp 475871759 118192150 RYR1_00167 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14678G>C NC_000019.9:g.39075614G>A;NC_000019.9:g.39075614G>C;NG_008866.1:g.156275G>A;NG_008866.1:g.156275G>C;NM_000540.2:c.14678G>A;NM_000540.2:c.14678G>C;NM_001042723.1:c.14663G>A;NM_001042723.1:c.14663G>C;NP_000531.2:p.Arg4893Gln;NP_000531.2:p.Arg4893Pro;NP_001036188.1:p.Arg4888Gln;NP_001036188.1:p.Arg4888Pro 252444719 118192151 CCORE_48 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14678G>A NC_000019.9:g.39075614G>A;NC_000019.9:g.39075614G>C;NG_008866.1:g.156275G>A;NG_008866.1:g.156275G>C;NM_000540.2:c.14678G>A;NM_000540.2:c.14678G>C;NM_001042723.1:c.14663G>A;NM_001042723.1:c.14663G>C;NP_000531.2:p.Arg4893Gln;NP_000531.2:p.Arg4893Pro;NP_001036188.1:p.Arg4888Gln;NP_001036188.1:p.Arg4888Pro 252444720 118192151 CCORE_49 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14678G>A NC_000019.9:g.39075614G>A;NC_000019.9:g.39075614G>C;NG_008866.1:g.156275G>A;NG_008866.1:g.156275G>C;NM_000540.2:c.14678G>A;NM_000540.2:c.14678G>C;NM_001042723.1:c.14663G>A;NM_001042723.1:c.14663G>C;NP_000531.2:p.Arg4893Gln;NP_000531.2:p.Arg4893Pro;NP_001036188.1:p.Arg4888Gln;NP_001036188.1:p.Arg4888Pro 475871760 118192151 RYR1_00072 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14678G>C NC_000019.9:g.39075614G>A;NC_000019.9:g.39075614G>C;NG_008866.1:g.156275G>A;NG_008866.1:g.156275G>C;NM_000540.2:c.14678G>A;NM_000540.2:c.14678G>C;NM_001042723.1:c.14663G>A;NM_001042723.1:c.14663G>C;NP_000531.2:p.Arg4893Gln;NP_000531.2:p.Arg4893Pro;NP_001036188.1:p.Arg4888Gln;NP_001036188.1:p.Arg4888Pro 475871761 118192151 RYR1_00251 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14680G>A NC_000019.9:g.39075616G>A;NC_000019.9:g.39075616G>C;NG_008866.1:g.156277G>A;NG_008866.1:g.156277G>C;NM_000540.2:c.14680G>A;NM_000540.2:c.14680G>C;NM_001042723.1:c.14665G>A;NM_001042723.1:c.14665G>C;NP_000531.2:p.Ala4894Pro;NP_000531.2:p.Ala4894Thr;NP_001036188.1:p.Ala4889Pro;NP_001036188.1:p.Ala4889Thr 475871762 193922888 RYR1_00135 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14680G>C NC_000019.9:g.39075616G>A;NC_000019.9:g.39075616G>C;NG_008866.1:g.156277G>A;NG_008866.1:g.156277G>C;NM_000540.2:c.14680G>A;NM_000540.2:c.14680G>C;NM_001042723.1:c.14665G>A;NM_001042723.1:c.14665G>C;NP_000531.2:p.Ala4894Pro;NP_000531.2:p.Ala4894Thr;NP_001036188.1:p.Ala4889Pro;NP_001036188.1:p.Ala4889Thr 475871763 193922888 RYR1_00308 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14681C>T NC_000019.9:g.39075617C>T;NG_008866.1:g.156278C>T;NM_000540.2:c.14681C>T;NM_001042723.1:c.14666C>T;NP_000531.2:p.Ala4894Val;NP_001036188.1:p.Ala4889Val 475871764 193922890 RYR1_00073 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14690G>T NC_000019.9:g.39075626G>T;NG_008866.1:g.156287G>T;NM_000540.2:c.14690G>T;NM_001042723.1:c.14675G>T;NP_000531.2:p.Gly4897Val;NP_001036188.1:p.Gly4892Val 252444716 118192148 CCORE_44 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14690G>T NC_000019.9:g.39075626G>T;NG_008866.1:g.156287G>T;NM_000540.2:c.14690G>T;NM_001042723.1:c.14675G>T;NP_000531.2:p.Gly4897Val;NP_001036188.1:p.Gly4892Val 475871765 118192148 RYR1_00262 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14693T>C NC_000019.9:g.39075629T>C;NG_008866.1:g.156290T>C;NM_000540.2:c.14693T>C;NM_001042723.1:c.14678T>C;NP_000531.2:p.Ile4898Thr;NP_001036188.1:p.Ile4893Thr 252444739 118192170 CCORE_78 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 OMIM-CURATED-RECORDS 6261 NP_000531.2:p.ILE4898THR NC_000019.9:g.39075629T>C;NG_008866.1:g.156290T>C;NM_000540.2:c.14693T>C;NM_001042723.1:c.14678T>C;NP_000531.2:p.Ile4898Thr;NP_001036188.1:p.Ile4893Thr 275518438 118192170 5307 germline pathogenic 2010.12.08 2010.12.08 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14693T>C NC_000019.9:g.39075629T>C;NG_008866.1:g.156290T>C;NM_000540.2:c.14693T>C;NM_001042723.1:c.14678T>C;NP_000531.2:p.Ile4898Thr;NP_001036188.1:p.Ile4893Thr 475871766 118192170 RYR1_00166 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14695G>A NC_000019.9:g.39075631G>A;NG_008866.1:g.156292G>A;NM_000540.2:c.14695G>A;NM_001042723.1:c.14680G>A;NP_000531.2:p.Gly4899Arg;NP_001036188.1:p.Gly4894Arg 475871767 193922891 RYR1_00218 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14696G>A NC_000019.9:g.39075632G>A;NG_008866.1:g.156293G>A;NM_000540.2:c.14696G>A;NM_001042723.1:c.14681G>A;NP_000531.2:p.Gly4899Glu;NP_001036188.1:p.Gly4894Glu 252444753 118192183 CCORE_96 unknown pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14696G>A NC_000019.9:g.39075632G>A;NG_008866.1:g.156293G>A;NM_000540.2:c.14696G>A;NM_001042723.1:c.14681G>A;NP_000531.2:p.Gly4899Glu;NP_001036188.1:p.Gly4894Glu 475871768 118192183 RYR1_00024 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14717C>T NC_000019.9:g.39075653C>T;NG_008866.1:g.156314C>T;NM_000540.2:c.14717C>T;NM_001042723.1:c.14702C>T;NP_000531.2:p.Ala4906Val;NP_001036188.1:p.Ala4901Val 252444721 118192153 CCORE_52 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 NHLBI-ESP 6261 NC_000019.9:g.39075653C>T;NG_008866.1:g.156314C>T;NM_000540.2:c.14717C>T;NM_001042723.1:c.14702C>T;NP_000531.2:p.Ala4906Val;NP_001036188.1:p.Ala4901Val 342496695 118192153 ESP2500-chr19-39075653 germline untested 2011.03.27 2011.03.27 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14717C>T NC_000019.9:g.39075653C>T;NG_008866.1:g.156314C>T;NM_000540.2:c.14717C>T;NM_001042723.1:c.14702C>T;NP_000531.2:p.Ala4906Val;NP_001036188.1:p.Ala4901Val 475871769 118192153 RYR1_00217 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14740A>G NC_000019.9:g.39075676A>G;NG_008866.1:g.156337A>G;NM_000540.2:c.14740A>G;NM_001042723.1:c.14725A>G;NP_000531.2:p.Arg4914Gly;NP_001036188.1:p.Arg4909Gly 252444754 118192184 CCORE_97 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14740A>G NC_000019.9:g.39075676A>G;NG_008866.1:g.156337A>G;NM_000540.2:c.14740A>G;NM_001042723.1:c.14725A>G;NP_000531.2:p.Arg4914Gly;NP_001036188.1:p.Arg4909Gly 475871770 118192184 RYR1_00182 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14741G>C NC_000019.9:g.39075677G>C;NG_008866.1:g.156338G>C;NM_000540.2:c.14741G>C;NM_001042723.1:c.14726G>C;NP_000531.2:p.Arg4914Thr;NP_001036188.1:p.Arg4909Thr 252444722 118192154 CCORE_54 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14741G>C NC_000019.9:g.39075677G>C;NG_008866.1:g.156338G>C;NM_000540.2:c.14741G>C;NM_001042723.1:c.14726G>C;NP_000531.2:p.Arg4914Thr;NP_001036188.1:p.Arg4909Thr 475871771 118192154 RYR1_00161 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39075681G>C;NG_008866.1:g.156342G>C;NM_000540.2:c.14745G>C;NM_001042723.1:c.14730G>C;NP_000531.2:p.Val4915=;NP_001036188.1:p.Val4910= 342496696 143953743 ESP2500-chr19-39075681 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.14759C>A NC_000019.9:g.39075695C>A;NG_008866.1:g.156356C>A;NM_000540.2:c.14759C>A;NM_001042723.1:c.14744C>A;NP_000531.2:p.Thr4920Asn;NP_001036188.1:p.Thr4915Asn 252444723 118192155 CCORE_55 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14759C>A NC_000019.9:g.39075695C>A;NG_008866.1:g.156356C>A;NM_000540.2:c.14759C>A;NM_001042723.1:c.14744C>A;NP_000531.2:p.Thr4920Asn;NP_001036188.1:p.Thr4915Asn 475871772 118192155 RYR1_00248 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14761_14762delinsAC NC_000019.9:g.39075697_39075698delTTinsAC;NG_008866.1:g.156358_156359delTTinsAC;NM_000540.2:c.14761_14762delTTinsAC;NM_001042723.1:c.14746_14747delTTinsAC;NP_000531.2:p.Phe4921Thr;NP_001036188.1:p.Phe4916Thr 252444740 118192171 CCORE_80 germline pathogenic 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14761_14762delinsAC NC_000019.9:g.39075697_39075698delTTinsAC;NG_008866.1:g.156358_156359delTTinsAC;NM_000540.2:c.14761_14762delTTinsAC;NM_001042723.1:c.14746_14747delTTinsAC;NP_000531.2:p.Phe4921Thr;NP_001036188.1:p.Phe4916Thr 475871773 118192171 RYR1_00249 germline pathogenic 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14762T>C NC_000019.9:g.39075698T>C;NG_008866.1:g.156359T>C;NM_000540.2:c.14762T>C;NM_001042723.1:c.14747T>C;NP_000531.2:p.Phe4921Ser;NP_001036188.1:p.Phe4916Ser 252444724 118192156 CCORE_56 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14762T>C NC_000019.9:g.39075698T>C;NG_008866.1:g.156359T>C;NM_000540.2:c.14762T>C;NM_001042723.1:c.14747T>C;NP_000531.2:p.Phe4921Ser;NP_001036188.1:p.Phe4916Ser 475871774 118192156 RYR1_00162 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 GENEREVIEWS 6261 NM_000540.2:c.14779_14787del NC_000019.9:g.39075715_39075723delGTCATCCTG;NG_008866.1:g.156376_156384delGTCATCCTG;NM_000540.2:c.14779_14787delGTCATCCTG;NM_001042723.1:c.14764_14772delGTCATCCTG;NP_000531.2:p.Val4927_Leu4929del;NP_001036188.1:p.Val4922_Leu4924del 252444725 118192157 CCORE_57 untested 2010.07.15 2010.07.15 2010.07.15 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14779G>T NC_000019.9:g.39075715G>T;NG_008866.1:g.156376G>T;NM_000540.2:c.14779G>T;NM_001042723.1:c.14764G>T;NP_000531.2:p.Val4927Phe;NP_001036188.1:p.Val4922Phe 475871775 193922892 RYR1_00074 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14779_14784del NC_000019.9:g.39075715_39075720delGTCATC;NG_008866.1:g.156376_156381delGTCATC;NM_000540.2:c.14779_14784delGTCATC;NM_001042723.1:c.14764_14769delGTCATC;NP_000531.2:p.Val4927_Ile4928del;NP_001036188.1:p.Val4922_Ile4923del 475871776 193922893 RYR1_00236 untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39075769C>T;NG_008866.1:g.156430C>T;NM_000540.2:c.14803+30C>T;NM_001042723.1:c.14788+30C>T 489164719 199667774 20110521_exome_255745_chr19_39075769 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ABI 6261 NC_000019.9:g.39075828_39075829insA;NG_008866.1:g.156489_156490insA;NM_000540.2:c.14803+89_14803+90insA;NM_001042723.1:c.14788+89_14788+90insA 41041816 35015282 hCV32823672 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39075835C>T;NG_008866.1:g.156496C>T;NM_000540.2:c.14803+96C>T;NM_001042723.1:c.14788+96C>T 465587197 191014892 20101123_snps_11754427_chr19_39075835 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 6261 NC_000019.9:g.39075854T>G;NG_008866.1:g.156515T>G;NM_000540.2:c.14803+115T>G;NM_001042723.1:c.14788+115T>G 155887944 78805981 GMI_SNP_135362330 2.30e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39075854T>G;NG_008866.1:g.156515T>G;NM_000540.2:c.14803+115T>G;NM_001042723.1:c.14788+115T>G 283206255 78805981 GMI_AK_SNP_7526676 2.30e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39075854T>G;NG_008866.1:g.156515T>G;NM_000540.2:c.14803+115T>G;NM_001042723.1:c.14788+115T>G 340455012 78805981 20100804_snps_12098553_chr19_39075854 2.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 GMI 6261 NC_000019.9:g.39075895T>C;NG_008866.1:g.156556T>C;NM_000540.2:c.14803+156T>C;NM_001042723.1:c.14788+156T>C 283206256 201809691 GMI_AK_SNP_7526677 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 6261 NC_000019.9:g.39075952A>G;NG_008866.1:g.156613A>G;NM_000540.2:c.14803+213A>G;NM_001042723.1:c.14788+213A>G 340455013 145462210 20100804_snps_12098554_chr19_39075952 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 6261 NC_000019.9:g.39076009_39076010insATAT;NG_008866.1:g.156670_156671insATAT;NM_000540.2:c.14803+270_14803+271insATAT;NM_001042723.1:c.14788+270_14788+271insATAT 4270304 3039200 TSC1528201 2001.11.09 2003.10.10 2002.01.05 2011.07.08 137 TSC-CSHL 6261 NC_000019.9:g.39076009_39076010insATAT;NG_008866.1:g.156670_156671insATAT;NM_000540.2:c.14803+270_14803+271insATAT;NM_001042723.1:c.14788+270_14788+271insATAT 5288490 3039200 TSC1687452 2002.09.20 2003.10.10 2002.01.05 2011.07.08 137 ABI 6261 NC_000019.9:g.39076009_39076010insATAT;NG_008866.1:g.156670_156671insATAT;NM_000540.2:c.14803+270_14803+271insATAT;NM_001042723.1:c.14788+270_14788+271insATAT 41039327 3039200 hCV32823673 2005.07.17 2005.07.17 2002.01.05 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39076010_39076011delAT;NG_008866.1:g.156671_156672delAT;NM_000540.2:c.14803+271_14803+272delAT;NM_001042723.1:c.14788+271_14788+272delAT 327903824 138050595 JPTCHB_chr19_43767849_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076010_39076011delAT;NG_008866.1:g.156671_156672delAT;NM_000540.2:c.14803+271_14803+272delAT;NM_001042723.1:c.14788+271_14788+272delAT 328032230 138050595 CEU_chr19_43767849_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076010_39076011delAT;NG_008866.1:g.156671_156672delAT;NM_000540.2:c.14803+271_14803+272delAT;NM_001042723.1:c.14788+271_14788+272delAT 328276267 138050595 YRI_chr19_43767849_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076035_39076036delTA;NG_008866.1:g.156696_156697delTA;NM_000540.2:c.14803+296_14803+297delTA;NM_001042723.1:c.14788+296_14788+297delTA 499576503 200089543 20110316_indels_chr19_39076034_39076035 6.00e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39076057T>A;NG_008866.1:g.156718T>A;NM_000540.2:c.14803+318T>A;NM_001042723.1:c.14788+318T>A 208563535 111930438 BCM_CMT_1011-3145850 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39076102C>T;NG_008866.1:g.156763C>T;NM_000540.2:c.14803+363C>T;NM_001042723.1:c.14788+363C>T 340455014 148812876 20100804_snps_12098555_chr19_39076102 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39076262T>C;NG_008866.1:g.156923T>C;NM_000540.2:c.14804-316T>C;NM_001042723.1:c.14789-316T>C 169709561 111925649 NA19240_36_chr19_43768102 1.69e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076262T>C;NG_008866.1:g.156923T>C;NM_000540.2:c.14804-316T>C;NM_001042723.1:c.14789-316T>C 340455015 111925649 20100804_snps_12098556_chr19_39076262 1.69e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 6261 NC_000019.9:g.39076279A>T;NG_008866.1:g.156940A>T;NM_000540.2:c.14804-299A>T;NM_001042723.1:c.14789-299A>T 208556627 113076360 BCM_CMT_1011-3143533 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39076294T>G;NG_008866.1:g.156955T>G;NM_000540.2:c.14804-284T>G;NM_001042723.1:c.14789-284T>G 243881188 118078199 pilot_1_CHB+JPT_5766265_chr19_43768134 1.14e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 6261 NC_000019.9:g.39076294T>G;NG_008866.1:g.156955T>G;NM_000540.2:c.14804-284T>G;NM_001042723.1:c.14789-284T>G 283206257 118078199 GMI_AK_SNP_7526678 1.14e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39076377C>T;NG_008866.1:g.157038C>T;NM_000540.2:c.14804-201C>T;NM_001042723.1:c.14789-201C>T 203751140 111727371 BUSHMAN-chr19-43768216 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076402C>T;NG_008866.1:g.157063C>T;NM_000540.2:c.14804-176C>T;NM_001042723.1:c.14789-176C>T 340455016 137934477 20100804_snps_12098557_chr19_39076402 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_JCM 6261 NC_000019.9:g.39076454C>T;NG_008866.1:g.157115C>T;NM_000540.2:c.14804-124C>T;NM_001042723.1:c.14789-124C>T 4102782 2907615 AC005933.1_31587 1.37e-02 2001.10.15 2006.10.25 2001.11.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39076454C>T;NG_008866.1:g.157115C>T;NM_000540.2:c.14804-124C>T;NM_001042723.1:c.14789-124C>T 76551565 2907615 AFFY_6_1M_SNP_A-8412632 1.37e-02 2007.08.30 2007.08.30 2001.11.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39076454C>T;NG_008866.1:g.157115C>T;NM_000540.2:c.14804-124C>T;NM_001042723.1:c.14789-124C>T 104883436 2907615 KHS1275754 1.37e-02 2008.07.10 2008.07.10 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076454C>T;NG_008866.1:g.157115C>T;NM_000540.2:c.14804-124C>T;NM_001042723.1:c.14789-124C>T 228136025 2907615 pilot_1_YRI_9945708_chr19_43768294 1.37e-02 2010.04.22 2010.04.22 2001.11.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076455G>A;NG_008866.1:g.157116G>A;NM_000540.2:c.14804-123G>A;NM_001042723.1:c.14789-123G>A 465587198 183531027 20101123_snps_11754428_chr19_39076455 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39076521G>C;NG_008866.1:g.157182G>C;NM_000540.2:c.14804-57G>C;NM_001042723.1:c.14789-57G>C 465587199 187378759 20101123_snps_11754429_chr19_39076521 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 LUMC-LOVD 6261 NM_000540.2:c.14804-1G>T NC_000019.9:g.39076577G>T;NG_008866.1:g.157238G>T;NM_000540.2:c.14804-1G>T;NM_001042723.1:c.14789-1G>T 475871777 193922894 RYR1_00320 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 POPS 6261 NC_000019.9:g.39076587T>C;NG_008866.1:g.157248T>C;NM_000540.2:c.14813T>C;NM_001042723.1:c.14798T>C;NP_000531.2:p.Ile4938Thr;NP_001036188.1:p.Ile4933Thr 182258918 111657878 MHY18 2009.12.18 2009.12.18 2010.07.04 2011.07.08 137 GENEREVIEWS 6261 NM_000540.2:c.14814C>G NC_000019.9:g.39076588C>G;NG_008866.1:g.157249C>G;NM_000540.2:c.14814C>G;NM_001042723.1:c.14799C>G;NP_000531.2:p.Ile4938Met;NP_001036188.1:p.Ile4933Met 252444727 118192159 CCORE_59 germline untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14814C>G NC_000019.9:g.39076588C>G;NG_008866.1:g.157249C>G;NM_000540.2:c.14814C>G;NM_001042723.1:c.14799C>G;NP_000531.2:p.Ile4938Met;NP_001036188.1:p.Ile4933Met 475871778 118192159 RYR1_00208 germline untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14817C>A NC_000019.9:g.39076591C>A;NG_008866.1:g.157252C>A;NM_000540.2:c.14817C>A;NM_001042723.1:c.14802C>A;NP_000531.2:p.Asp4939Glu;NP_001036188.1:p.Asp4934Glu 475871779 193922895 RYR1_00210 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 GENEREVIEWS 6261 NM_000540.2:c.14818G>A NC_000019.9:g.39076592G>A;NG_008866.1:g.157253G>A;NM_000540.2:c.14818G>A;NM_001042723.1:c.14803G>A;NP_000531.2:p.Ala4940Thr;NP_001036188.1:p.Ala4935Thr 252444726 118192158 CCORE_58 unknown untested 2010.07.15 2010.07.15 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14818G>A NC_000019.9:g.39076592G>A;NG_008866.1:g.157253G>A;NM_000540.2:c.14818G>A;NM_001042723.1:c.14803G>A;NP_000531.2:p.Ala4940Thr;NP_001036188.1:p.Ala4935Thr 475871780 118192158 RYR1_00163 unknown untested 2011.11.25 2011.11.25 2010.07.15 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14825G>T NC_000019.9:g.39076599G>T;NG_008866.1:g.157260G>T;NM_000540.2:c.14825G>T;NM_001042723.1:c.14810G>T;NP_000531.2:p.Gly4942Val;NP_001036188.1:p.Gly4937Val 475871781 193922896 RYR1_00175 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 1000GENOMES 6261 NC_000019.9:g.39076627G>A;NG_008866.1:g.157288G>A;NM_000540.2:c.14853G>A;NM_001042723.1:c.14838G>A;NP_000531.2:p.Val4951=;NP_001036188.1:p.Val4946= 489164722 199705005 20110521_exome_255746_chr19_39076627 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076670G>A;NG_008866.1:g.157331G>A;NM_000540.2:c.14868+28G>A;NM_001042723.1:c.14853+28G>A 489164724 201630517 20110521_exome_255747_chr19_39076670 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076673A>G;NG_008866.1:g.157334A>G;NM_000540.2:c.14868+31A>G;NM_001042723.1:c.14853+31A>G 489164726 201276187 20110521_exome_255748_chr19_39076673 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076678G>A;NG_008866.1:g.157339G>A;NM_000540.2:c.14868+36G>A;NM_001042723.1:c.14853+36G>A 489164728 199999652 20110521_exome_255749_chr19_39076678 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076690G>T;NG_008866.1:g.157351G>T;NM_000540.2:c.14869-41G>T;NM_001042723.1:c.14854-41G>T 489164730 201878600 20110521_exome_255750_chr19_39076690 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39076728C>G;NG_008866.1:g.157389C>G;NM_000540.2:c.14869-3C>G;NM_001042723.1:c.14854-3C>G 168988950 111852761 Human1M-Duov3_B_GA016309-0_B_R_1533443886 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39076728C>G;NG_008866.1:g.157389C>G;NM_000540.2:c.14869-3C>G;NM_001042723.1:c.14854-3C>G 203751141 111852761 BUSHMAN-chr19-43768567 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 LUMC-LOVD 6261 NM_000540.2:c.14869-1G>C NC_000019.9:g.39076730G>C;NG_008866.1:g.157391G>C;NM_000540.2:c.14869-1G>C;NM_001042723.1:c.14854-1G>C 475871782 193922897 RYR1_00234 unknown untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 LUMC-LOVD 6261 NM_000540.2:c.14879T>A NC_000019.9:g.39076741T>A;NG_008866.1:g.157402T>A;NM_000540.2:c.14879T>A;NM_001042723.1:c.14864T>A;NP_000531.2:p.Phe4960Tyr;NP_001036188.1:p.Phe4955Tyr 475871783 193922898 RYR1_00136 germline untested 2011.11.25 2011.11.25 2011.11.25 2012.09.29 137 YUSUKE 6261 NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 3248535 2302297 IMS-JST058620 5.00e-04 unknown untested 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 160533616 2302297 HumanOmni1-Quad_v1-0_B_rs2302297-128_T_F_1562411405 5.00e-04 germline untested 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 340455017 2302297 20100804_snps_12098558_chr19_39076754 5.00e-04 germline untested 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14892C>A NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 475871784 2302297 RYR1_00002 5.00e-04 germline untested 2011.11.25 2011.11.25 2001.09.28 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 481348871 2302297 HumanOmni1-Quad_v1-0_C_rs2302297-131_T_F_1863337316 5.00e-04 unknown untested 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076754C>A;NG_008866.1:g.157415C>A;NM_000540.2:c.14892C>A;NM_001042723.1:c.14877C>A;NP_000531.2:p.Ile4964=;NP_001036188.1:p.Ile4959= 491158165 2302297 20110521_exome_665963_chr19_39076754 5.00e-04 germline untested 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39076763C>G;NG_008866.1:g.157424C>G;NM_000540.2:c.14901C>G;NM_001042723.1:c.14886C>G;NP_000531.2:p.Asp4967Glu;NP_001036188.1:p.Asp4962Glu 491766298 201712715 SNV-chr19-43768603 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39076777C>T;NG_008866.1:g.157438C>T;NM_000540.2:c.14915C>T;NM_001042723.1:c.14900C>T;NP_000531.2:p.Thr4972Ile;NP_001036188.1:p.Thr4967Ile 491766299 199866740 SNV-chr19-43768617 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39076780C>T;NG_008866.1:g.157441C>T;NM_000540.2:c.14918C>T;NM_001042723.1:c.14903C>T;NP_000531.2:p.Pro4973Leu;NP_001036188.1:p.Pro4968Leu 342496697 146876145 ESP2500-chr19-39076780 unknown untested 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 LUMC-LOVD 6261 NM_000540.2:c.14918C>T NC_000019.9:g.39076780C>T;NG_008866.1:g.157441C>T;NM_000540.2:c.14918C>T;NM_001042723.1:c.14903C>T;NP_000531.2:p.Pro4973Leu;NP_001036188.1:p.Pro4968Leu 475871785 146876145 RYR1_00022 germline untested 2011.11.25 2011.11.25 2011.05.09 2012.11.28 137 CLINSEQ_SNP 6261 NC_000019.9:g.39076791G>C;NG_008866.1:g.157452G>C;NM_000540.2:c.14929G>C;NM_001042723.1:c.14914G>C;NP_000531.2:p.Glu4977Gln;NP_001036188.1:p.Glu4972Gln 491766300 200777598 SNV-chr19-43768631 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076847G>A;NG_008866.1:g.157508G>A;NM_000540.2:c.14969+16G>A;NM_001042723.1:c.14954+16G>A 340455018 145776846 20100804_snps_12098559_chr19_39076847 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076847G>A;NG_008866.1:g.157508G>A;NM_000540.2:c.14969+16G>A;NM_001042723.1:c.14954+16G>A 491158166 145776846 20110521_exome_665964_chr19_39076847 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39076863G>C;NG_008866.1:g.157524G>C;NM_000540.2:c.14969+32G>C;NM_001042723.1:c.14954+32G>C 203751142 113102243 BUSHMAN-chr19-43768702 3.85e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076863G>C;NG_008866.1:g.157524G>C;NM_000540.2:c.14969+32G>C;NM_001042723.1:c.14954+32G>C 228136026 113102243 pilot_1_YRI_9945709_chr19_43768703 3.85e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076863G>C;NG_008866.1:g.157524G>C;NM_000540.2:c.14969+32G>C;NM_001042723.1:c.14954+32G>C 491158167 113102243 20110521_exome_665965_chr19_39076863 3.85e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39076903C>T;NG_008866.1:g.157564C>T;NM_000540.2:c.14969+72C>T;NM_001042723.1:c.14954+72C>T 203751143 111891859 BUSHMAN-chr19-43768742 3.85e-02 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076903C>T;NG_008866.1:g.157564C>T;NM_000540.2:c.14969+72C>T;NM_001042723.1:c.14954+72C>T 228136027 111891859 pilot_1_YRI_9945710_chr19_43768743 3.85e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 137 GMI 6261 NC_000019.9:g.39076921_39076926delGGGGGT;NG_008866.1:g.157582_157587delGGGGGT;NM_000540.2:c.14969+90_14969+95delGGGGGT;NM_001042723.1:c.14954+90_14954+95delGGGGGT 289387926 143087507 GMI_AK_INDEL_1065383 7.55e-02 2010.12.30 2011.12.30 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076921_39076926delGGGGGT;NG_008866.1:g.157582_157587delGGGGGT;NM_000540.2:c.14969+90_14969+95delGGGGGT;NM_001042723.1:c.14954+90_14954+95delGGGGGT 327903826 143087507 JPTCHB_chr19_43768760_indel 7.55e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076921_39076926delGGGGGT;NG_008866.1:g.157582_157587delGGGGGT;NM_000540.2:c.14969+90_14969+95delGGGGGT;NM_001042723.1:c.14954+90_14954+95delGGGGGT 328276268 143087507 YRI_chr19_43768760_indel 7.55e-02 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076921_39076926delGGGGGT;NG_008866.1:g.157582_157587delGGGGGT;NM_000540.2:c.14969+90_14969+95delGGGGGT;NM_001042723.1:c.14954+90_14954+95delGGGGGT 499576506 143087507 20110316_indels_chr19_39076920_39076925 7.55e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39076984C>T;NG_008866.1:g.157645C>T;NM_000540.2:c.14969+153C>T;NM_001042723.1:c.14954+153C>T 340455019 138384735 20100804_snps_12098560_chr19_39076984 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 6261 NC_000019.9:g.39076985G>A;NG_008866.1:g.157646G>A;NM_000540.2:c.14969+154G>A;NM_001042723.1:c.14954+154G>A 340455020 142019305 20100804_snps_12098561_chr19_39076985 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WICVAR 6261 NC_000019.9:g.39077210G>A;NG_008866.1:g.157871G>A;NM_000540.2:c.15015G>A;NM_001042723.1:c.15000G>A;NP_000531.2:p.Thr5005=;NP_001036188.1:p.Thr5000= 3176138 2229149 WIAF-15957 9.00e-04 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077210G>A;NG_008866.1:g.157871G>A;NM_000540.2:c.15015G>A;NM_001042723.1:c.15000G>A;NP_000531.2:p.Thr5005=;NP_001036188.1:p.Thr5000= 340455021 2229149 20100804_snps_12098562_chr19_39077210 9.00e-04 2011.03.22 2011.03.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077210G>A;NG_008866.1:g.157871G>A;NM_000540.2:c.15015G>A;NM_001042723.1:c.15000G>A;NP_000531.2:p.Thr5005=;NP_001036188.1:p.Thr5000= 491158168 2229149 20110521_exome_665966_chr19_39077210 9.00e-04 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077253G>T;NG_008866.1:g.157914G>T;NM_000540.2:c.15021+37G>T;NM_001042723.1:c.15006+37G>T 111366181 73032657 CEU.trio.12.15.2008_3616708_chr19_43769093 4.21e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077253G>T;NG_008866.1:g.157914G>T;NM_000540.2:c.15021+37G>T;NM_001042723.1:c.15006+37G>T 237674393 73032657 pilot_1_CEU_7279022_chr19_43769093 4.21e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39077253G>T;NG_008866.1:g.157914G>T;NM_000540.2:c.15021+37G>T;NM_001042723.1:c.15006+37G>T 479575506 73032657 HumanOmni2.5-4v1_D_kgp11136022-0_T_R_1816053514 4.21e-02 2012.01.30 2012.01.30 2009.02.14 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39077253G>T;NG_008866.1:g.157914G>T;NM_000540.2:c.15021+37G>T;NM_001042723.1:c.15006+37G>T 483826099 73032657 HumanOmni2.5-4v1_B_SNP19-43769093-0_T_R_1647358416 4.21e-02 2012.02.03 2012.02.03 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077253G>T;NG_008866.1:g.157914G>T;NM_000540.2:c.15021+37G>T;NM_001042723.1:c.15006+37G>T 491158169 73032657 20110521_exome_665967_chr19_39077253 4.21e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077529T>G;NG_008866.1:g.158190T>G;NM_000540.2:c.15021+313T>G;NM_001042723.1:c.15006+313T>G 340455022 138748000 20100804_snps_12098563_chr19_39077529 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 6261 NC_000019.9:g.39077611delA;NG_008866.1:g.158272delA;NM_000540.2:c.15022-354delA;NM_001042723.1:c.15007-354delA 193510380 113697447 BUSHMAN-chr19-43769450-43769451 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 GMI 6261 NC_000019.9:g.39077611delA;NG_008866.1:g.158272delA;NM_000540.2:c.15022-354delA;NM_001042723.1:c.15007-354delA 289387927 113697447 GMI_AK_INDEL_1065384 2010.12.30 2011.12.30 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077611delA;NG_008866.1:g.158272delA;NM_000540.2:c.15022-354delA;NM_001042723.1:c.15007-354delA 327903830 113697447 JPTCHB_chr19_43769450_indel 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077611delA;NG_008866.1:g.158272delA;NM_000540.2:c.15022-354delA;NM_001042723.1:c.15007-354delA 328276269 113697447 YRI_chr19_43769450_indel 2011.03.13 2011.04.04 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077652C>T;NG_008866.1:g.158313C>T;NM_000540.2:c.15022-313C>T;NM_001042723.1:c.15007-313C>T 465587200 192159458 20101123_snps_11754430_chr19_39077652 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39077667G>C;NG_008866.1:g.158328G>C;NM_000540.2:c.15022-298G>C;NM_001042723.1:c.15007-298G>C 465587201 182837510 20101123_snps_11754431_chr19_39077667 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39077709G>A;NG_008866.1:g.158370G>A;NM_000540.2:c.15022-256G>A;NM_001042723.1:c.15007-256G>A 465587202 188211784 20101123_snps_11754432_chr19_39077709 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39077801G>A;NG_008866.1:g.158462G>A;NM_000540.2:c.15022-164G>A;NM_001042723.1:c.15007-164G>A 203751144 113806582 BUSHMAN-chr19-43769640 9.60e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077801G>A;NG_008866.1:g.158462G>A;NM_000540.2:c.15022-164G>A;NM_001042723.1:c.15007-164G>A 340455023 113806582 20100804_snps_12098564_chr19_39077801 9.60e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077802A>C;NG_008866.1:g.158463A>C;NM_000540.2:c.15022-163A>C;NM_001042723.1:c.15007-163A>C 465587203 192765916 20101123_snps_11754433_chr19_39077802 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 6261 NC_000019.9:g.39077850G>A;NG_008866.1:g.158511G>A;NM_000540.2:c.15022-115G>A;NM_001042723.1:c.15007-115G>A 465587204 184464191 20101123_snps_11754434_chr19_39077850 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39077895_39077896insAT;NG_008866.1:g.158556_158557insAT;NM_000540.2:c.15022-70_15022-69insAT;NM_001042723.1:c.15007-70_15007-69insAT 193510381 112959863 BUSHMAN-chr19-43769735-43769735 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 DEVINE_LAB 6261 NC_000019.9:g.39077896_39077897insAT;NG_008866.1:g.158557_158558insAT;NM_000540.2:c.15022-69_15022-68insAT;NM_001042723.1:c.15007-69_15007-68insAT 101531933 72239430 INDEL_GP36_2008a_2677200_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077896_39077897insAT;NG_008866.1:g.158557_158558insAT;NM_000540.2:c.15022-69_15022-68insAT;NM_001042723.1:c.15007-69_15007-68insAT 327903833 72239430 JPTCHB_chr19_43769735_indel 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077896_39077897insAT;NG_008866.1:g.158557_158558insAT;NM_000540.2:c.15022-69_15022-68insAT;NM_001042723.1:c.15007-69_15007-68insAT 328032232 72239430 CEU_chr19_43769735_indel 2011.03.13 2011.04.03 2009.02.13 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39077896_39077897insAT;NG_008866.1:g.158557_158558insAT;NM_000540.2:c.15022-69_15022-68insAT;NM_001042723.1:c.15007-69_15007-68insAT 328276270 72239430 YRI_chr19_43769735_indel 2011.03.13 2011.04.04 2009.02.13 2012.11.28 137 DEVINE_LAB 6261 NC_000019.9:g.39077897_39077898insTA;NG_008866.1:g.158558_158559insTA;NM_000540.2:c.15022-68_15022-67insTA;NM_001042723.1:c.15007-68_15007-67insTA 100285183 71900310 INDEL_GP36_2008a_2734802_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 HGSV 6261 NC_000019.9:g.39077911_39077912insAT;NG_008866.1:g.158572_158573insAT;NM_000540.2:c.15022-54_15022-53insAT;NM_001042723.1:c.15007-54_15007-53insAT 79834024 60733320 Cor18507_DIV_20070510.chr19_43769751-43769752_1 2007.11.23 2007.11.23 2007.12.16 2011.07.08 137 CLINSEQ_SNP 6261 NC_000019.9:g.39078041A>G;NG_008866.1:g.158702A>G;NM_000540.2:c.15098A>G;NM_001042723.1:c.15083A>G;NP_000531.2:p.Tyr5033Cys;NP_001036188.1:p.Tyr5028Cys 491766301 201765762 SNV-chr19-43769881 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 6261 NC_000019.9:g.39078052C>T;NG_008866.1:g.158713C>T;NM_000540.2:c.15109C>T;NM_001042723.1:c.15094C>T;NP_000531.2:p.Leu5037Phe;NP_001036188.1:p.Leu5032Phe 342496698 140584202 ESP2500-chr19-39078052 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ABI 6261 NC_000019.9:g.39078057_39078058insT;NG_008866.1:g.158718_158719insT;NM_000540.2:c.15114_15115insT;NM_001042723.1:c.15099_15100insT;NP_000531.2:p.Ser5038_Ter5039delinsSerLeuThrfs;NP_001036188.1:p.Ser5033_Ter5034delinsSerLeuThrfs 41003583 36094657 hCV32823675 2005.07.17 2005.07.17 2006.03.16 2011.07.08 137 ABI 6261 NC_000019.9:g.39078089delC;NG_008866.1:g.158750delC;NM_000540.2:c.*29delC;NM_001042723.1:c.*29delC 41009987 35418546 hCV32823676 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39078195C>T;NG_008866.1:g.158856C>T;NM_000540.2:c.*135C>T;NM_001042723.1:c.*135C>T 465587205 188314477 20101123_snps_11754435_chr19_39078195 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 6261 NC_000019.9:g.39078347G>C;NG_008866.1:g.159008G>C;NM_000540.2:c.*287G>C;NM_001042723.1:c.*287G>C 203751145 113000039 BUSHMAN-chr19-43770186 1.51e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078347G>C;NG_008866.1:g.159008G>C;NM_000540.2:c.*287G>C;NM_001042723.1:c.*287G>C 465587206 113000039 20101123_snps_11754436_chr19_39078347 1.51e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078347G>C;NG_008866.1:g.159008G>C;NM_000540.2:c.*287G>C;NM_001042723.1:c.*287G>C 491158170 113000039 20110521_exome_665968_chr19_39078347 1.51e-02 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 ABI 6261 NC_000019.9:g.39078373_39078374insC;NG_008866.1:g.159034_159035insC;NM_000540.2:c.*313_*314insC;NM_001042723.1:c.*313_*314insC 41018662 35507252 hCV32823677 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 6261 NC_000019.9:g.39078378C>A;NG_008866.1:g.159039C>A;NM_000540.2:c.*318C>A;NM_001042723.1:c.*318C>A 489164732 201154164 20110521_exome_255751_chr19_39078378 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39078484C>T;NG_008866.1:g.159145C>T;NM_000540.2:c.*424C>T;NM_001042723.1:c.*424C>T 117702758 73933028 NA18507_000043967_NCBI36.1_chr19_43770324 1.05e-02 2009.01.20 2009.01.20 2009.02.14 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39078484C>T;NG_008866.1:g.159145C>T;NM_000540.2:c.*424C>T;NM_001042723.1:c.*424C>T 203751146 73933028 BUSHMAN-chr19-43770323 1.05e-02 2010.03.09 2010.03.09 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078484C>T;NG_008866.1:g.159145C>T;NM_000540.2:c.*424C>T;NM_001042723.1:c.*424C>T 228136028 73933028 pilot_1_YRI_9945711_chr19_43770324 1.05e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078484C>T;NG_008866.1:g.159145C>T;NM_000540.2:c.*424C>T;NM_001042723.1:c.*424C>T 491158171 73933028 20110521_exome_665969_chr19_39078484 1.05e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078545C>T;NG_008866.1:g.159206C>T;NM_000540.2:c.*485C>T;NM_001042723.1:c.*485C>T 465587207 184725129 20101123_snps_11754437_chr19_39078545 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 14695950 10404936 chr19.NT_011109.15_11346792 1.83e-01 2003.11.10 2004.08.05 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 66268708 10404936 SNP_A-4298969 1.83e-01 2006.10.28 2008.03.31 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 75200895 10404936 ILMN_Human_1M_rs10404936 1.83e-01 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 76413548 10404936 AFFY_6_1M_SNP_A-4298969 1.83e-01 2007.08.30 2007.08.30 2003.12.05 2012.11.28 137 KRIBB_YJKIM 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 82715325 10404936 KHS309727 1.83e-01 2007.12.03 2007.12.03 2003.12.05 2012.11.28 137 HGSV 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 84860154 10404936 Cor19129_SNV_20070510.chr19_43770414 1.83e-01 2007.12.08 2007.12.08 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 115121202 10404936 NA19240_2008_12_16_3257691_chr19_43770414 1.83e-01 2008.12.19 2008.12.19 2003.12.05 2012.11.28 137 ILLUMINA-UK 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 117702759 10404936 NA18507_000043968_NCBI36.1_chr19_43770414 1.83e-01 2009.01.20 2009.01.20 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 159889767 10404936 HumanOmni1-Quad_v1-0_B_rs10404936-128_B_F_1514161547 1.83e-01 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 169709576 10404936 NA19240_36_chr19_43770414 1.83e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 170027525 10404936 Human1M-Duov3_B_rs10404936-128_B_F_1514161547 1.83e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 AFFY 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 173509803 10404936 GenomeWideSNP_5_SNP_A-4298969 1.83e-01 2009.10.03 2009.10.03 2003.12.05 2012.11.28 137 BUSHMAN 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 203751147 10404936 BUSHMAN-chr19-43770413 1.83e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 228136029 10404936 pilot_1_YRI_9945712_chr19_43770414 1.83e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 243881189 10404936 pilot_1_CHB+JPT_5766266_chr19_43770414 1.83e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 GMI 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 283206258 10404936 GMI_AK_SNP_7526679 1.83e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 292248578 10404936 SNP_1754936_chr19_43770414 1.83e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 479257169 10404936 HumanOmni2.5-4v1_B_rs10404936-128_B_F_1768687847 1.83e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 479260101 10404936 HumanOmniExpress-12v1_C_rs10404936-131_B_F_1857076745 1.83e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 479624945 10404936 HumanOmni1-Quad_v1-0_C_rs10404936-131_B_F_1865543653 1.83e-01 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 ILLUMINA 6261 NC_000019.9:g.39078574T>C;NG_008866.1:g.159235T>C;NM_000540.2:c.*514T>C;NM_001042723.1:c.*514T>C 484429284 10404936 HumanOmni2.5-4v1_D_rs10404936-131_B_F_1857076745 1.83e-01 2012.02.03 2012.02.03 2003.12.05 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078619_39078621delAGG;NG_008866.1:g.159280_159282delAGG;NM_000540.2:c.*559_*561delAGG;NM_001042723.1:c.*559_*561delAGG 328276271 143309950 YRI_chr19_43770458_indel 8.20e-03 2011.03.13 2011.04.04 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078619_39078621delAGG;NG_008866.1:g.159280_159282delAGG;NM_000540.2:c.*559_*561delAGG;NM_001042723.1:c.*559_*561delAGG 499576510 143309950 20110316_indels_chr19_39078618_39078620 8.20e-03 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 6261 NC_000019.9:g.39078689C>T;NG_008866.1:g.159350C>T;NM_000540.2:c.*629C>T;NM_001042723.1:c.*629C>T 340455024 147491542 20100804_snps_12098565_chr19_39078689 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 # Report date: 2013.2.9, Gene: RYR1 (6261), ss count: 10651, rs count: 3680.