# 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 9278 NC_000006.11:g.33281837G>C;NM_001145338.1:c.*607+345C>G;NM_005453.4:c.*607+345C>G 488833328 200436656 20110521_exome_91789_chr6_33281837 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 12704093 2239841 AL662820.6_43069_GT 2003.09.10 2006.10.25 2001.08.15 2013.01.17 137 SC_SNP 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 15751482 2239841 NT_007592.13_24079001 2003.11.17 2003.11.22 2001.08.15 2013.01.17 137 PJP 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 293833664 2239841 SNP_3340022_chr6_33389820 2011.01.21 2011.01.21 2001.08.15 2013.01.17 137 1000GENOMES 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 490923188 2239841 20110521_exome_430986_chr6_33281842 2012.02.21 2012.02.21 2001.08.15 2013.01.17 137 SI_MHC_SNP 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 12704094 2239840 AL662820.6_43070_AT 2.09e-01 2003.09.10 2005.03.24 2001.08.15 2012.11.28 137 KYUGEN 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 28461126 2239840 QH01760 2.09e-01 2004.07.07 2006.11.02 2001.08.15 2012.11.28 137 BL 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 254225412 2239840 SNP51023_6_33389821 2.09e-01 2010.08.19 2010.08.19 2001.08.15 2012.11.28 137 GMI 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 278746650 2239840 GMI_AK_SNP_3066891 2.09e-01 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 293833665 2239840 SNP_3340023_chr6_33389821 2.09e-01 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 491887721 2239840 SNV-chr6-33389821 2.09e-01 2012.03.07 2012.03.13 2001.08.15 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 4346432 3106189 AC040962.2_131535 4.97e-01 2002.02.19 2003.10.10 2002.03.26 2012.11.28 137 CSHL-HAPMAP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 17873104 3106189 CSHL-HuCC-200402.chr6.NT_007592.13_24079161 4.97e-01 2004.02.19 2004.03.04 2002.03.26 2012.11.28 137 ABI 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 44685875 3106189 hCV2479333 4.97e-01 2005.07.19 2006.11.03 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 65845227 3106189 KHS21023 4.97e-01 2006.10.17 2006.12.16 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 74990255 3106189 ILMN_Human_1M_rs3106189 4.97e-01 2007.08.29 2007.08.29 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 114182281 3106189 NA19240_2008_12_16_1340043_chr6_33389980 4.97e-01 2008.12.18 2008.12.18 2002.03.26 2012.11.28 137 ILLUMINA-UK 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 116411063 3106189 NA18507_000055947_NCBI36.1_chr6_33389980 4.97e-01 2009.01.17 2009.01.17 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 119454346 3106189 KHS1616593 4.97e-01 2009.02.04 2009.02.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 160610700 3106189 HumanOmni1-Quad_v1-0_B_rs3106189-128_B_R_1513973488 4.97e-01 2009.08.06 2009.10.04 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 163382454 3106189 NA19240_36_chr6_33389980 4.97e-01 2009.09.29 2009.09.29 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 222324179 3106189 pilot_1_YRI_4133862_chr6_33389980 4.97e-01 2010.04.22 2010.04.22 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 240487842 3106189 pilot_1_CHB+JPT_2372919_chr6_33389980 4.97e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 410928268 3106189 Cardio-Metabo_Chip_11395247_A_rs3106189 4.97e-01 2011.06.07 2011.06.07 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 480768694 3106189 HumanOmniExpress-12v1_C_rs3106189-131_B_R_1857412716 4.97e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 BCM_SSAHASNP 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 10281282 3130099 chr6.NT_007592.13_24079340 4.97e-01 2003.06.29 2003.10.10 2002.03.26 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 12704096 3130099 AL662820.6_43408_AG 4.97e-01 2003.09.10 2008.03.31 2002.03.26 2012.11.28 137 SC_SNP 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 13097649 3130099 NT_007592.13_24079340 4.97e-01 2003.10.22 2003.11.17 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 74907561 3130099 ILMN_Human_1M_rs3130099 4.97e-01 2007.08.29 2007.08.29 2002.03.26 2012.11.28 137 BCMHGSC_JDW 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 93440375 3130099 JWB-2123806 4.97e-01 2008.03.04 2008.03.04 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 109931978 3130099 CEU.trio.12.15.2008_1494909_chr6_33390159 4.97e-01 2008.12.16 2008.12.16 2002.03.26 2012.11.28 137 ILLUMINA-UK 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 116411066 3130099 NA18507_000055948_NCBI36.1_chr6_33390159 4.97e-01 2009.01.17 2009.01.17 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 119455173 3130099 KHS1617420 4.97e-01 2009.02.04 2009.02.04 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 166479405 3130099 NA20431_36_chr6_33390159 4.97e-01 2009.09.30 2009.09.30 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 222324180 3130099 pilot_1_YRI_4133863_chr6_33390159 4.97e-01 2010.04.22 2010.04.22 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 480759498 3130099 HumanOmni2.5-4v1_B_rs3130099-128_B_R_1617358498 4.97e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 481666706 3130099 HumanOmni1-Quad_v1-0_C_rs3130099-131_B_R_1865402998 4.97e-01 2012.02.01 2012.02.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282241C>T;NM_001145338.1:c.*548G>A;NM_005453.4:c.*548G>A 458767499 191956035 20101123_snps_4934729_chr6_33282241 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 9278 NC_000006.11:g.33282278C>A;NM_001145338.1:c.*511G>T;NM_005453.4:c.*511G>T 458767500 182888904 20101123_snps_4934730_chr6_33282278 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 9278 NC_000006.11:g.33282322G>A;NM_001145338.1:c.*467C>T;NM_005453.4:c.*467C>T 485230195 114111424 HumanOmni2.5-4v1_B_SNP6-33390300-0_T_F_1626483200 1.14e-02 2012.02.04 2012.02.04 2010.07.14 2012.11.28 137 LEE 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 1547081 1061801 947547 1.23e-01 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 12704097 1061801 AL662820.6_43565_GA 1.23e-01 2003.09.10 2003.10.10 2000.10.05 2012.11.28 137 CGAP-GAI 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 16250160 1061801 1499461 1.23e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 75212355 1061801 ILMN_Human_1M_rs1061801 1.23e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 201663735 1061801 BUSHMAN-chr6-33390315 1.23e-01 2010.03.08 2010.03.08 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 207699422 1061801 BCM_CMT_1011-1365729 1.23e-01 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 211821681 1061801 YRI.trio.3.2010_600412_chr6_33390316 1.23e-01 2010.03.30 2010.03.30 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 233421726 1061801 pilot_1_CEU_3026355_chr6_33390316 1.23e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 479712537 1061801 HumanOmni1-Quad_v1-0_C_rs1061801-131_B_F_1865695646 1.23e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 LEE 9278 NC_000006.11:g.33282347G>A;NM_001145338.1:c.*442C>T;NM_005453.4:c.*442C>T 1547078 1061798 947415 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 9278 NC_000006.11:g.33282463C>A;NM_001145338.1:c.*326G>T;NM_005453.4:c.*326G>T 458767501 187739469 20101123_snps_4934731_chr6_33282463 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 9278 NC_000006.11:g.33282596G>T;NM_001145338.1:c.*193C>A;NM_005453.4:c.*193C>A 240487845 118050845 pilot_1_CHB+JPT_2372922_chr6_33390574 4.60e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 LEE 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 1547055 1061783 946819 4.89e-01 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 10283033 1061783 chr6.NT_007592.13_24079787 4.89e-01 2003.06.29 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 11782191 1061783 chr6.NT_007592.13_24079787 4.89e-01 2003.07.04 2003.10.10 2000.10.05 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 12704098 1061783 AL662820.6_43855_CT 4.89e-01 2003.09.10 2007.08.14 2000.10.05 2012.11.28 137 CSHL-HAPMAP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 19654966 1061783 CSHL-HuDD-200402.chr6.NT_007592.13_24079787 4.89e-01 2004.02.21 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 22392890 1061783 WGSA-200403-chr6.chr6.NT_007592.13_24079787 4.89e-01 2004.03.21 2004.03.21 2000.10.05 2012.11.28 137 ABI 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 44694206 1061783 hCV8851478 4.89e-01 2005.07.19 2005.07.19 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 75237519 1061783 ILMN_Human_1M_rs1061783 4.89e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 78138666 1061783 Cor12878_SNV_20070510.chr6_33390606 4.89e-01 2007.10.18 2007.10.18 2000.10.05 2012.11.28 137 BCMHGSC_JDW 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 93440377 1061783 JWB-2123808 4.89e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 ILLUMINA-UK 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 116411069 1061783 NA18507_000055949_NCBI36.1_chr6_33390606 4.89e-01 2009.01.17 2009.01.17 2000.10.05 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 119381442 1061783 KHS1543689 4.89e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ENSEMBL 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 142895761 1061783 ENSSNP9438440 4.89e-01 2009.06.05 2009.10.16 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 166479428 1061783 NA20431_36_chr6_33390606 4.89e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 170399965 1061783 Human1M-Duov3_B_rs1061783-128_T_F_1514197004 4.89e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 222324182 1061783 pilot_1_YRI_4133865_chr6_33390606 4.89e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 233421727 1061783 pilot_1_CEU_3026356_chr6_33390606 4.89e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 479324803 1061783 HumanOmniExpress-12v1_C_rs1061783-131_T_F_1857125325 4.89e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 479712529 1061783 HumanOmni1-Quad_v1-0_C_rs1061783-131_T_F_1865528539 4.89e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282737G>C;NM_001145338.1:c.*52C>G;NM_005453.4:c.*52C>G 333196227 148426865 20100804_snps_4839764_chr6_33282737 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 9278 NC_000006.11:g.33282775A>G;NM_001145338.1:c.*14T>C;NM_005453.4:c.*14T>C 488833330 199651905 20110521_exome_91790_chr6_33282775 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282824C>T;NM_001145338.1:c.1870G>A;NM_005453.4:c.1870G>A;NP_001138810.1:p.Glu624Lys;NP_005444.4:p.Glu624Lys 333196228 142582527 20100804_snps_4839765_chr6_33282824 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282826A>C;NM_001145338.1:c.1868T>G;NM_005453.4:c.1868T>G;NP_001138810.1:p.Val623Gly;NP_005444.4:p.Val623Gly 488833332 201918288 20110521_exome_91791_chr6_33282826 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33282841G>C;NM_001145338.1:c.1853C>G;NM_005453.4:c.1853C>G;NP_001138810.1:p.Pro618Arg;NP_005444.4:p.Pro618Arg 342209032 147609143 ESP2500-chr6-33282841 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33282844G>A;NM_001145338.1:c.1850C>T;NM_005453.4:c.1850C>T;NP_001138810.1:p.Pro617Leu;NP_005444.4:p.Pro617Leu 342209033 142482762 ESP2500-chr6-33282844 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 SEATTLESEQ 9278 NC_000006.11:g.33282921delC;NC_000006.11:g.33282921delCinsCT;NM_001145338.1:c.1773delG;NM_001145338.1:c.1773delGinsAG;NM_005453.4:c.1773delG;NM_005453.4:c.1773delGinsAG;NP_001138810.1:p.Glu591Aspfs;NP_001138810.1:p.Glu591delinsGluValfs;NP_005444.4:p.Glu591Aspfs;NP_005444.4:p.Glu591delinsGluValfs 159747073 77670995 ZBTB22-33390905 2009.07.13 2009.07.13 2009.12.01 2011.07.08 137 1000GENOMES 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 333196229 61734030 20100804_snps_4839766_chr6_33282922 6.00e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 342209034 61734030 ESP2500-chr6-33282922 6.00e-03 2011.03.26 2011.03.26 2008.03.23 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 490923191 61734030 20110521_exome_430989_chr6_33282922 6.00e-03 2012.02.21 2012.02.21 2008.03.23 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33282966A>G;NM_001145338.1:c.1728T>C;NM_005453.4:c.1728T>C;NP_001138810.1:p.Pro576=;NP_005444.4:p.Pro576= 342209035 145713668 ESP2500-chr6-33282966 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 TSC-CSHL 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 3126771 2187889 TSC1238560 2.70e-03 2001.06.07 2003.10.10 2001.06.15 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 6305024 2187889 NT_007592.10_24095909 2.70e-03 2003.01.13 2003.10.10 2001.06.15 2012.11.28 137 APPLERA_GI 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 48408648 2187889 hCV15847607 2.70e-03 2005.11.30 2005.11.30 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 75008988 2187889 ILMN_Human_1M_rs2187889 2.70e-03 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 119420348 2187889 KHS1582595 2.70e-03 2009.02.04 2009.02.04 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 160512227 2187889 HumanOmni1-Quad_v1-0_B_rs2187889-128_B_F_1513968807 2.70e-03 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 333196230 2187889 20100804_snps_4839767_chr6_33283065 2.70e-03 2011.03.22 2011.03.22 2001.06.15 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 342209036 2187889 ESP2500-chr6-33283065 2.70e-03 2011.03.26 2011.03.26 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 480469895 2187889 HumanOmniExpress-12v1_C_rs2187889-131_B_F_1857140361 2.70e-03 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 490923192 2187889 20110521_exome_430990_chr6_33283065 2.70e-03 2012.02.21 2012.02.21 2001.06.15 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 491887723 2187889 SNV-chr6-33391043 2.70e-03 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283100T>G;NM_001145338.1:c.1594A>C;NM_005453.4:c.1594A>C;NP_001138810.1:p.Met532Leu;NP_005444.4:p.Met532Leu 458767502 192656717 20101123_snps_4934732_chr6_33283100 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283100T>G;NM_001145338.1:c.1594A>C;NM_005453.4:c.1594A>C;NP_001138810.1:p.Met532Leu;NP_005444.4:p.Met532Leu 490923193 192656717 20110521_exome_430991_chr6_33283100 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283212G>A;NM_001145338.1:c.1482C>T;NM_005453.4:c.1482C>T;NP_001138810.1:p.Phe494=;NP_005444.4:p.Phe494= 333196231 150092433 20100804_snps_4839768_chr6_33283212 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283212G>A;NM_001145338.1:c.1482C>T;NM_005453.4:c.1482C>T;NP_001138810.1:p.Phe494=;NP_005444.4:p.Phe494= 490923194 150092433 20110521_exome_430992_chr6_33283212 2.30e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283248C>A;NM_001145338.1:c.1446G>T;NM_005453.4:c.1446G>T;NP_001138810.1:p.Gly482=;NP_005444.4:p.Gly482= 342209037 143829547 ESP2500-chr6-33283248 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 ILLUMINA 9278 NC_000006.11:g.33283252T>C;NM_001145338.1:c.1442A>G;NM_005453.4:c.1442A>G;NP_001138810.1:p.Asp481Gly;NP_005444.4:p.Asp481Gly 481240618 199783511 HumanOmni2.5-4v1_D_kgp16946251-0_B_F_1842189270 2012.01.31 2012.01.31 2012.05.04 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283266C>G;NM_001145338.1:c.1428G>C;NM_005453.4:c.1428G>C;NP_001138810.1:p.Gly476=;NP_005444.4:p.Gly476= 342209038 148157028 ESP2500-chr6-33283266 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 9278 NC_000006.11:g.33283324C>T;NM_001145338.1:c.1370G>A;NM_005453.4:c.1370G>A;NP_001138810.1:p.Gly457Glu;NP_005444.4:p.Gly457Glu 488833338 201375257 20110521_exome_91794_chr6_33283324 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283324C>T;NM_001145338.1:c.1370G>A;NM_005453.4:c.1370G>A;NP_001138810.1:p.Gly457Glu;NP_005444.4:p.Gly457Glu 491384350 201375257 nonsyn_100576_chr_6_33283324 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283363G>T;NM_001145338.1:c.1331C>A;NM_005453.4:c.1331C>A;NP_001138810.1:p.Pro444Gln;NP_005444.4:p.Pro444Gln 491384351 112804383 nonsyn_100577_chr_6_33283363 2012.03.05 2012.03.05 2010.07.04 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283404C>T;NM_001145338.1:c.1290G>A;NM_005453.4:c.1290G>A;NP_001138810.1:p.Pro430=;NP_005444.4:p.Pro430= 342209041 138960222 ESP2500-chr6-33283404 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33283431C>A;NM_001145338.1:c.1263G>T;NM_005453.4:c.1263G>T;NP_001138810.1:p.Met421Ile;NP_005444.4:p.Met421Ile 342209042 142469315 ESP2500-chr6-33283431 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 9278 NC_000006.11:g.33283451G>A;NM_001145338.1:c.1243C>T;NM_005453.4:c.1243C>T;NP_001138810.1:p.Pro415Ser;NP_005444.4:p.Pro415Ser 491384353 150102452 nonsyn_100579_chr_6_33283451 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283487T>C;NM_001145338.1:c.1207A>G;NM_005453.4:c.1207A>G;NP_001138810.1:p.Thr403Ala;NP_005444.4:p.Thr403Ala 491384354 138395717 nonsyn_100580_chr_6_33283487 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283536T>C;NM_001145338.1:c.1158A>G;NM_005453.4:c.1158A>G;NP_001138810.1:p.Pro386=;NP_005444.4:p.Pro386= 342209045 149236263 ESP2500-chr6-33283536 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33283594G>A;NM_001145338.1:c.1100C>T;NM_005453.4:c.1100C>T;NP_001138810.1:p.Pro367Leu;NP_005444.4:p.Pro367Leu 342209046 144433957 ESP2500-chr6-33283594 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283594G>A;NM_001145338.1:c.1100C>T;NM_005453.4:c.1100C>T;NP_001138810.1:p.Pro367Leu;NP_005444.4:p.Pro367Leu 491384355 144433957 nonsyn_100581_chr_6_33283594 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 SEQUENOM 9278 NC_000006.11:g.33283611G>C;NM_001145338.1:c.1083C>G;NM_005453.4:c.1083C>G;NP_001138810.1:p.Val361=;NP_005444.4:p.Val361= 24820790 3173271 sqnm225320 2004.06.18 2004.06.18 2002.05.29 2011.07.08 137 MGC_GENOME_DIFF 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 28510869 3130100 BC018541x29804415-T24080925C 4.78e-01 2004.08.25 2004.08.25 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 65727344 3130100 Human1-rs3130100 4.78e-01 2006.10.10 2006.10.10 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 65845353 3130100 KHS21149 4.78e-01 2006.10.17 2006.12.16 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 66615942 3130100 HumanHap300v1.1_rs3130100 4.78e-01 2006.11.09 2006.11.09 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 67695024 3130100 HumanHap650Yv1.0_rs3130100 4.78e-01 2006.11.14 2006.11.14 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 79159077 3130100 HumanHap300v2.0_rs3130100 4.78e-01 2007.11.18 2007.11.18 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 84153722 3130100 KHS646561 4.78e-01 2007.12.06 2007.12.06 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 154255197 3130100 Human610_Quadv1_B_rs3130100-128_T_R_1501751446 4.78e-01 2009.06.20 2009.06.20 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 159431933 3130100 Human660W-Quad_v1_A_rs3130100-128_T_R_1501751446 4.78e-01 2009.07.07 2009.07.07 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 163382469 3130100 NA19240_36_chr6_33391744 4.78e-01 2009.09.29 2009.09.29 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 166479440 3130100 NA20431_36_chr6_33391744 4.78e-01 2009.09.30 2009.09.30 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 233421728 3130100 pilot_1_CEU_3026357_chr6_33391744 4.78e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 240487848 3130100 pilot_1_CHB+JPT_2372925_chr6_33391744 4.78e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 480775287 3130100 HumanOmniExpress-12v1_C_rs3130100-131_T_R_1853468351 4.78e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 485174456 3130100 HumanOmni2.5-4v1_D_rs3130100-131_T_R_1853468351 4.78e-01 2012.02.04 2012.02.04 2002.03.26 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283830G>A;NM_001145338.1:c.864C>T;NM_005453.4:c.864C>T;NP_001138810.1:p.Pro288=;NP_005444.4:p.Pro288= 342209048 143727228 ESP2500-chr6-33283830 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 YUSUKE 9278 NC_000006.11:g.33283888C>T;NM_001145338.1:c.806G>A;NM_005453.4:c.806G>A;NP_001138810.1:p.Gly269Glu;NP_005444.4:p.Gly269Glu 3203762 2269611 IMS-JST023846 2001.09.05 2003.10.10 2001.09.28 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33283911T>G;NM_001145338.1:c.783A>C;NM_005453.4:c.783A>C;NP_001138810.1:p.Ala261=;NP_005444.4:p.Ala261= 342209049 147203161 ESP2500-chr6-33283911 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33283939G>A;NM_001145338.1:c.755C>T;NM_005453.4:c.755C>T;NP_001138810.1:p.Ala252Val;NP_005444.4:p.Ala252Val 342209050 140463379 ESP2500-chr6-33283939 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 APPLERA_GI 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 48408646 35663442 hCV25640380 9.60e-03 2005.11.30 2006.11.03 2006.03.15 2012.11.28 137 SEATTLESEQ 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 159712407 35663442 ZBTB22-33391923 9.60e-03 2009.07.10 2009.07.10 2006.03.15 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 342209051 35663442 ESP2500-chr6-33283945 9.60e-03 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 485230199 35663442 HumanOmni2.5-4v1_B_SNP6-33391923-0_T_F_1626579383 9.60e-03 2012.02.04 2012.02.04 2006.03.15 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 491384357 35663442 nonsyn_100583_chr_6_33283945 9.60e-03 2012.03.05 2012.03.05 2006.03.15 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283955C>T;NM_001145338.1:c.739G>A;NM_005453.4:c.739G>A;NP_001138810.1:p.Val247Ile;NP_005444.4:p.Val247Ile 342209052 141444056 ESP2500-chr6-33283955 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283955C>T;NM_001145338.1:c.739G>A;NM_005453.4:c.739G>A;NP_001138810.1:p.Val247Ile;NP_005444.4:p.Val247Ile 491384358 141444056 nonsyn_100584_chr_6_33283955 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 ABI 9278 NC_000006.11:g.33283959_33283960insG;NM_001145338.1:c.734_735insC;NM_005453.4:c.734_735insC;NP_001138810.1:p.Pro245delinsProCysfs;NP_005444.4:p.Pro245delinsProCysfs 42875524 35202949 hCV34173825 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33284001G>A;NM_001145338.1:c.693C>T;NM_005453.4:c.693C>T;NP_001138810.1:p.Gly231=;NP_005444.4:p.Gly231= 342209053 139261190 ESP2500-chr6-33284001 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33284107C>T;NM_001145338.1:c.587G>A;NM_005453.4:c.587G>A;NP_001138810.1:p.Arg196Gln;NP_005444.4:p.Arg196Gln 342209054 149991802 ESP2500-chr6-33284107 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33284115G>A;NM_001145338.1:c.579C>T;NM_005453.4:c.579C>T;NP_001138810.1:p.Ala193=;NP_005444.4:p.Ala193= 342209055 145171577 ESP2500-chr6-33284115 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33284127C>T;NM_001145338.1:c.567G>A;NM_005453.4:c.567G>A;NP_001138810.1:p.Ala189=;NP_005444.4:p.Ala189= 342209056 141471574 ESP2500-chr6-33284127 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 9278 NC_000006.11:g.33284146G>A;NM_001145338.1:c.548C>T;NM_005453.4:c.548C>T;NP_001138810.1:p.Pro183Leu;NP_005444.4:p.Pro183Leu 342209057 145141681 ESP2500-chr6-33284146 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GMI 9278 NC_000006.11:g.33284147G>C;NM_001145338.1:c.547C>G;NM_005453.4:c.547C>G;NP_001138810.1:p.Pro183Ala;NP_005444.4:p.Pro183Ala 156784178 75451899 GMI_SNP_265248642 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 9278 NC_000006.11:g.33284147G>C;NM_001145338.1:c.547C>G;NM_005453.4:c.547C>G;NP_001138810.1:p.Pro183Ala;NP_005444.4:p.Pro183Ala 278746655 75451899 GMI_AK_SNP_3066896 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 LEE 9278 NC_000006.11:g.33282292G>A;NM_001145338.1:c.*497C>T;NM_005453.4:c.*497C>T 1547086 1061803 947620 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 HGBASE 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 2425867 1061801 SNP000013623 1.23e-01 2000.11.07 2003.10.10 2000.10.05 2012.11.28 137 YUSUKE 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 3195237 2239840 IMS-JST011158 2.09e-01 2001.08.07 2003.10.10 2001.08.15 2012.11.28 137 YUSUKE 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 3195238 2239841 IMS-JST011159 2001.08.07 2003.10.10 2001.08.15 2013.01.17 137 CGAP-GAI 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 4320617 1061801 51324 1.23e-01 2001.11.28 2006.10.25 2000.10.05 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 4346431 1061783 AC040962.2_130909 4.89e-01 2002.02.19 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 4377359 2239841 AL662820.6_43069 2002.02.19 2003.10.10 2001.08.15 2013.01.17 137 SC_JCM 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 4377360 2239840 AL662820.6_43070 2.09e-01 2002.02.19 2003.10.10 2001.08.15 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 4377361 3130099 AL662820.6_43408 4.97e-01 2002.02.19 2003.10.10 2002.03.26 2012.11.28 137 SC_JCM 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 4377362 3130100 AL662820.6_44993 4.78e-01 2002.02.19 2003.10.10 2002.03.26 2012.11.28 137 LEE 9278 NC_000006.11:g.33283611G>C;NM_001145338.1:c.1083C>G;NM_005453.4:c.1083C>G;NP_001138810.1:p.Val361=;NP_005444.4:p.Val361= 4400335 3173271 ge946248 2002.04.25 2003.10.10 2002.05.29 2011.07.08 137 LEE 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 4400341 1061783 ge946819 4.89e-01 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 9278 NC_000006.11:g.33282347G>A;NM_001145338.1:c.*442C>T;NM_005453.4:c.*442C>T 4400345 1061798 ge947415 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 4400346 1061801 ge947547 1.23e-01 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 9278 NC_000006.11:g.33282292G>A;NM_001145338.1:c.*497C>T;NM_005453.4:c.*497C>T 4400348 1061803 ge947620 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 9278 NC_000006.11:g.33283611G>C;NM_001145338.1:c.1083C>G;NM_005453.4:c.1083C>G;NP_001138810.1:p.Val361=;NP_005444.4:p.Val361= 4432240 3173271 e946248 2002.04.26 2003.10.10 2002.05.29 2011.07.08 137 LEE 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 4432247 1061783 e946819 4.89e-01 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 LEE 9278 NC_000006.11:g.33282347G>A;NM_001145338.1:c.*442C>T;NM_005453.4:c.*442C>T 4432266 1061798 e947415 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 LEE 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 4432268 1061801 e947547 1.23e-01 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 10280897 3106189 chr6.NT_007592.13_24079161 4.97e-01 2003.06.29 2003.10.10 2002.03.26 2012.11.28 137 WI_SSAHASNP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 11780271 3106189 chr6.NT_007592.13_24079161 4.97e-01 2003.07.04 2003.10.10 2002.03.26 2012.11.28 137 WI_SSAHASNP 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 11780607 3130099 chr6.NT_007592.13_24079340 4.97e-01 2003.07.04 2003.10.10 2002.03.26 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 12704095 3106189 AL662820.6_43229_CT 4.97e-01 2003.09.10 2006.10.25 2002.03.26 2012.11.28 137 SI_MHC_SNP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 12704099 3130100 AL662820.6_44993_TC 4.78e-01 2003.09.10 2006.10.25 2002.03.26 2012.11.28 137 SC_SNP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 13097648 3106189 NT_007592.13_24079161 4.97e-01 2003.10.22 2003.11.17 2002.03.26 2012.11.28 137 SC_SNP 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 15724241 2239840 NT_007592.13_24079002 2.09e-01 2003.11.17 2003.11.22 2001.08.15 2012.11.28 137 SC_SNP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 15751483 1061783 NT_007592.13_24079787 4.89e-01 2003.11.17 2003.11.22 2000.10.05 2012.11.28 137 CGAP-GAI 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 16250161 1061783 1499462 4.89e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 SSAHASNP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 22382679 3130100 WGSA-200403-chr6.chr6.NT_007592.13_24080925 4.78e-01 2004.03.21 2004.03.21 2002.03.26 2012.11.28 137 SEQUENOM 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 24789983 1061801 sqnm93666 1.23e-01 2004.06.18 2006.11.02 2000.10.05 2012.11.28 137 SEQUENOM 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 24796001 1061801 sqnm137242 1.23e-01 2004.06.18 2004.08.05 2000.10.05 2012.11.28 137 SEQUENOM 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 24820791 1061783 sqnm225326 4.89e-01 2004.06.18 2004.08.05 2000.10.05 2012.11.28 137 KYUGEN 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 28461124 1061801 QH01758 1.23e-01 2004.07.07 2006.11.02 2000.10.05 2012.11.28 137 KYUGEN 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 28461125 2239841 QH01759 2004.07.07 2006.11.02 2001.08.15 2013.01.17 137 SSAHASNP 9278 NC_000006.11:g.33282571A>G;NM_001145338.1:c.*218T>C;NM_005453.4:c.*218T>C 35259762 28513961 TA-079.chr6_33390549 2005.03.11 2005.05.24 2011.07.08 137 ABI 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 44710771 3130099 hCV2479332 4.97e-01 2005.07.19 2005.07.19 2002.03.26 2012.11.28 137 ABI 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 44730452 3130100 hCV2479331 4.78e-01 2005.07.19 2006.11.03 2002.03.26 2012.11.28 137 ABI 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 44752103 2187889 hCV15847607 2.70e-03 2005.07.19 2005.07.19 2001.06.15 2012.11.28 137 APPLERA_GI 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 48408647 3130100 hCV2479331 4.78e-01 2005.11.30 2006.11.03 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 65759601 3130099 Human1-rs3130099 4.97e-01 2006.10.10 2006.10.10 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 65844089 2239841 KHS19885 2006.10.17 2006.12.16 2001.08.15 2013.01.17 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 67291403 3130100 HumanHap550v1.1_rs3130100 4.78e-01 2006.11.14 2006.11.14 2002.03.26 2012.11.28 137 PERLEGEN 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 68972709 3130100 PGP04599397 4.78e-01 2007.01.30 2008.03.31 2002.03.26 2012.11.28 137 PERLEGEN 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 68972710 35663442 PGP17791055 9.60e-03 2007.01.30 2008.03.31 2006.03.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 70769992 3130100 HumanHap550v3.0__rs3130100 4.78e-01 2007.04.20 2008.03.30 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 71345155 3130100 HumanHap650Yv3.0_rs3130100 4.78e-01 2007.04.23 2007.04.23 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 75429766 3130100 ILMN_Human_1M_rs3130100 4.78e-01 2007.08.29 2007.08.29 2002.03.26 2012.11.28 137 HGSV 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 79037328 3130099 Cor18507_SNV_20070510.chr6_33390159 4.97e-01 2007.10.21 2007.10.21 2002.03.26 2012.11.28 137 HGSV 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 85670626 3130099 Cor18517_SNV_20070510.chr6_33390159 4.97e-01 2007.12.09 2007.12.09 2002.03.26 2012.11.28 137 CORNELL 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 86249363 61734030 hCV25640382 6.00e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 BCMHGSC_JDW 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 93440374 3106189 JWB-2123805 4.97e-01 2008.03.04 2008.03.04 2002.03.26 2012.11.28 137 BCMHGSC_JDW 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 93440376 1061801 JWB-2123807 1.23e-01 2008.03.04 2008.03.04 2000.10.05 2012.11.28 137 BCMHGSC_JDW 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 93440378 3130100 JWB-2123809 4.78e-01 2008.03.04 2008.03.04 2002.03.26 2012.11.28 137 APPLERA_GI 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 95212187 61734030 hCV25640382 6.00e-03 2008.03.13 2008.03.13 2008.03.23 2012.11.28 137 HUMANGENOME_JCVI 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 98488750 1061783 1103652835340 4.89e-01 2008.04.01 2008.04.01 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 98488751 3130100 1103652835338 4.78e-01 2008.04.01 2008.04.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 109931982 1061783 CEU.trio.12.15.2008_1494910_chr6_33390606 4.89e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 109931986 3130100 CEU.trio.12.15.2008_1494911_chr6_33391744 4.78e-01 2008.12.16 2008.12.16 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 114182290 3130099 NA19240_2008_12_16_1340044_chr6_33390159 4.97e-01 2008.12.18 2008.12.18 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 114182296 1061783 NA19240_2008_12_16_1340045_chr6_33390606 4.89e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 116411072 3130100 NA18507_000055950_NCBI36.1_chr6_33391744 4.78e-01 2009.01.17 2009.01.17 2002.03.26 2012.11.28 137 KRIBB_YJKIM 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 119381443 1061801 KHS1543690 1.23e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 120036988 3130100 GS0007123-OPA_Ober-rs3130100 4.78e-01 2009.02.24 2009.02.24 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 122174584 3130100 HumanCNV370v1_C_rs3130100 4.78e-01 2009.04.15 2009.04.15 2002.03.26 2012.11.28 137 ENSEMBL 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 133802201 2239841 ENSSNP7468091 2009.05.12 2009.10.14 2001.08.15 2013.01.17 137 ENSEMBL 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 142875146 2239840 ENSSNP3432469 2.09e-01 2009.06.05 2009.10.16 2001.08.15 2012.11.28 137 ENSEMBL 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 142994038 3106189 ENSSNP9237836 4.97e-01 2009.06.05 2009.10.16 2002.03.26 2012.11.28 137 ENSEMBL 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 143099637 3130100 ENSSNP8274537 4.78e-01 2009.06.05 2009.10.19 2002.03.26 2012.11.28 137 ENSEMBL 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 143202282 3130099 ENSSNP8332527 4.97e-01 2009.06.06 2009.10.19 2002.03.26 2012.11.28 137 SEATTLESEQ 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 159712406 3130100 ZBTB22-33391744 4.78e-01 2009.07.10 2009.07.10 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 159911659 1061783 HumanOmni1-Quad_v1-0_B_rs1061783-128_T_F_1514197004 4.89e-01 2009.08.04 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 159911661 1061801 HumanOmni1-Quad_v1-0_B_rs1061801-128_B_F_1514162017 1.23e-01 2009.08.04 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 160613089 3130099 HumanOmni1-Quad_v1-0_B_rs3130099-128_B_R_1513936879 4.97e-01 2009.08.06 2009.10.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 160613091 3130100 HumanOmni1-Quad_v1-0_B_rs3130100-128_T_R_1501751446 4.78e-01 2009.08.06 2009.10.04 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 163382459 3130099 NA19240_36_chr6_33390159 4.97e-01 2009.09.29 2009.09.29 2002.03.26 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 163382464 1061783 NA19240_36_chr6_33390606 4.89e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 166479395 3106189 NA20431_36_chr6_33389980 4.97e-01 2009.09.30 2009.09.30 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 170399980 1061801 Human1M-Duov3_B_rs1061801-128_B_F_1514162017 1.23e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 171548618 3130100 HumanCNV370-Quadv3_C_rs3130100-128_T_R_1501751446 4.78e-01 2009.10.01 2009.10.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 173167124 2187889 Human1M-Duov3_B_rs2187889-128_B_F_1513968807 2.70e-03 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 173562234 3106189 Human1M-Duov3_B_rs3106189-128_B_R_1513973488 4.97e-01 2009.10.04 2009.10.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 173567422 3130099 Human1M-Duov3_B_rs3130099-128_B_R_1513936879 4.97e-01 2009.10.04 2009.10.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 173567426 3130100 Human1M-Duov3_B_rs3130100-128_T_R_1501751446 4.78e-01 2009.10.04 2009.10.04 2002.03.26 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33281935G>C;NM_001145338.1:c.*607+247C>G;NM_005453.4:c.*607+247C>G 201663725 111686073 BUSHMAN-chr6-33389912 2.52e-02 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 201663729 3106189 BUSHMAN-chr6-33389979 4.97e-01 2010.03.08 2010.03.08 2002.03.26 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 201663731 3130099 BUSHMAN-chr6-33390158 4.97e-01 2010.03.08 2010.03.08 2002.03.26 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 201663740 1061783 BUSHMAN-chr6-33390605 4.89e-01 2010.03.08 2010.03.08 2000.10.05 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 201663743 2187889 BUSHMAN-chr6-33391042 2.70e-03 2010.03.08 2010.03.08 2001.06.15 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33283083A>G;NM_001145338.1:c.1611T>C;NM_005453.4:c.1611T>C;NP_001138810.1:p.Gly537=;NP_005444.4:p.Gly537= 201663746 112139354 BUSHMAN-chr6-33391060 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 BUSHMAN 9278 NC_000006.11:g.33283363G>T;NM_001145338.1:c.1331C>A;NM_005453.4:c.1331C>A;NP_001138810.1:p.Pro444Gln;NP_005444.4:p.Pro444Gln 201663750 112804383 BUSHMAN-chr6-33391340 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 201663754 3130100 BUSHMAN-chr6-33391743 4.78e-01 2010.03.08 2010.03.08 2002.03.26 2012.11.28 137 BUSHMAN 9278 NC_000006.11:g.33283982C>A;NM_001145338.1:c.712G>T;NM_005453.4:c.712G>T;NP_001138810.1:p.Gly238Cys;NP_005444.4:p.Gly238Cys 201663758 113818046 BUSHMAN-chr6-33391959 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 BCM-HGSC-SUB 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 207354146 3130099 BCM_CMT_1011-1250543 4.97e-01 2010.03.18 2010.03.18 2002.03.26 2012.11.28 137 BCM-HGSC-SUB 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 207362891 1061783 BCM_CMT_1011-1253456 4.89e-01 2010.03.18 2010.03.18 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 207471524 3130100 BCM_CMT_1011-1289442 4.78e-01 2010.03.18 2010.03.18 2002.03.26 2012.11.28 137 BCM-HGSC-SUB 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 207523210 3106189 BCM_CMT_1011-1306714 4.97e-01 2010.03.19 2010.03.19 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 211821683 3130100 YRI.trio.3.2010_600413_chr6_33391744 4.78e-01 2010.03.30 2010.03.30 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 222324176 2239841 pilot_1_YRI_4133859_chr6_33389820 2010.04.22 2010.04.22 2001.08.15 2013.01.17 137 1000GENOMES 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 222324177 2239840 pilot_1_YRI_4133860_chr6_33389821 2.09e-01 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281935G>C;NM_001145338.1:c.*607+247C>G;NM_005453.4:c.*607+247C>G 222324178 111686073 pilot_1_YRI_4133861_chr6_33389913 2.52e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282322G>A;NM_001145338.1:c.*467C>T;NM_005453.4:c.*467C>T 222324181 114111424 pilot_1_YRI_4133864_chr6_33390300 1.14e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 222324183 3130100 pilot_1_YRI_4133866_chr6_33391744 4.78e-01 2010.04.22 2010.04.22 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 222324184 35663442 pilot_1_YRI_4133867_chr6_33391923 9.60e-03 2010.04.22 2010.04.22 2006.03.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 233421722 2239841 pilot_1_CEU_3026351_chr6_33389820 2010.05.01 2010.05.01 2001.08.15 2013.01.17 137 1000GENOMES 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 233421723 2239840 pilot_1_CEU_3026352_chr6_33389821 2.09e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 233421724 3106189 pilot_1_CEU_3026353_chr6_33389980 4.97e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 233421725 3130099 pilot_1_CEU_3026354_chr6_33390159 4.97e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 240487840 2239841 pilot_1_CHB+JPT_2372917_chr6_33389820 2010.05.01 2010.05.01 2001.08.15 2013.01.17 137 1000GENOMES 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 240487841 2239840 pilot_1_CHB+JPT_2372918_chr6_33389821 2.09e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 240487843 3130099 pilot_1_CHB+JPT_2372920_chr6_33390159 4.97e-01 2010.05.01 2010.05.01 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 240487844 1061801 pilot_1_CHB+JPT_2372921_chr6_33390316 1.23e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 240487846 1061783 pilot_1_CHB+JPT_2372923_chr6_33390606 4.89e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 254225407 2239841 SNP51022_6_33389820 2010.08.19 2010.08.19 2001.08.15 2013.01.17 137 BL 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 254225416 3106189 SNP51024_6_33389980 4.97e-01 2010.08.19 2010.08.19 2002.03.26 2012.11.28 137 BL 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 254225424 3130100 SNP51025_6_33391744 4.78e-01 2010.08.19 2010.08.19 2002.03.26 2012.11.28 137 GMI 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 278746649 2239841 GMI_AK_SNP_3066890 2010.12.16 2010.12.16 2001.08.15 2013.01.17 137 GMI 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 278746651 3130099 GMI_AK_SNP_3066892 4.97e-01 2010.12.16 2010.12.16 2002.03.26 2012.11.28 137 GMI 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 278746652 1061801 GMI_AK_SNP_3066893 1.23e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 GMI 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 278746653 1061783 GMI_AK_SNP_3066894 4.89e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 GMI 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 278746654 3130100 GMI_AK_SNP_3066895 4.78e-01 2010.12.16 2010.12.16 2002.03.26 2012.11.28 137 PJP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 293833666 3106189 SNP_3340024_chr6_33389980 4.97e-01 2011.01.21 2011.01.21 2002.03.26 2012.11.28 137 PJP 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 293833667 3130099 SNP_3340025_chr6_33390159 4.97e-01 2011.01.21 2011.01.21 2002.03.26 2012.11.28 137 PJP 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 293833668 1061783 SNP_3340026_chr6_33390606 4.89e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 PJP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 293833669 3130100 SNP_3340027_chr6_33391744 4.78e-01 2011.01.21 2011.01.21 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283609C>T;NM_001145338.1:c.1085G>A;NM_005453.4:c.1085G>A;NP_001138810.1:p.Arg362His;NP_005444.4:p.Arg362His 333196232 147840428 20100804_snps_4839769_chr6_33283609 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283955C>T;NM_001145338.1:c.739G>A;NM_005453.4:c.739G>A;NP_001138810.1:p.Val247Ile;NP_005444.4:p.Val247Ile 333196233 141444056 20100804_snps_4839770_chr6_33283955 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283363G>T;NM_001145338.1:c.1331C>A;NM_005453.4:c.1331C>A;NP_001138810.1:p.Pro444Gln;NP_005444.4:p.Pro444Gln 342209039 112804383 ESP2500-chr6-33283363 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283364G>A;NM_001145338.1:c.1330C>T;NM_005453.4:c.1330C>T;NP_001138810.1:p.Pro444Ser;NP_005444.4:p.Pro444Ser 342209040 145135490 ESP2500-chr6-33283364 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283451G>A;NM_001145338.1:c.1243C>T;NM_005453.4:c.1243C>T;NP_001138810.1:p.Pro415Ser;NP_005444.4:p.Pro415Ser 342209043 150102452 ESP2500-chr6-33283451 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283487T>C;NM_001145338.1:c.1207A>G;NM_005453.4:c.1207A>G;NP_001138810.1:p.Thr403Ala;NP_005444.4:p.Thr403Ala 342209044 138395717 ESP2500-chr6-33283487 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 NHLBI-ESP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 342209047 3130100 ESP2500-chr6-33283766 4.78e-01 2011.03.26 2011.03.26 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 410928538 3130100 Cardio-Metabo_Chip_11395247_A_rs3130100 4.78e-01 2011.06.07 2011.06.07 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283570A>T;NM_001145338.1:c.1124T>A;NM_005453.4:c.1124T>A;NP_001138810.1:p.Val375Asp;NP_005444.4:p.Val375Asp 458767503 184398210 20101123_snps_4934733_chr6_33283570 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 479321611 1061783 HumanOmni2.5-4v1_B_rs1061783-128_T_F_1617359933 4.89e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 479321615 1061801 HumanOmni2.5-4v1_B_rs1061801-128_B_F_1772323755 1.23e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 479324807 1061801 HumanOmniExpress-12v1_C_rs1061801-131_B_F_1857125326 1.23e-01 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 480455799 2187889 HumanOmni2.5-4v1_B_rs2187889-128_B_F_1617358657 2.70e-03 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 480752766 3106189 HumanOmni2.5-4v1_B_rs3106189-128_B_R_1617358650 4.97e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 480759506 3130100 HumanOmni2.5-4v1_B_rs3130100-128_T_R_1617354993 4.78e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 480775279 3130099 HumanOmniExpress-12v1_C_rs3130099-131_B_R_1857420869 4.97e-01 2012.01.31 2012.01.31 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 481235749 35663442 HumanOmni2.5-4v1_D_kgp16927589-0_T_F_1842151954 9.60e-03 2012.01.31 2012.01.31 2006.03.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 481263229 2187889 HumanOmni1-Quad_v1-0_C_rs2187889-131_B_F_1857140361 2.70e-03 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282322G>A;NM_001145338.1:c.*467C>T;NM_005453.4:c.*467C>T 481288150 114111424 HumanOmni2.5-4v1_D_kgp17126701-0_T_F_1829815324 1.14e-02 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 481657242 3106189 HumanOmni1-Quad_v1-0_C_rs3106189-131_B_R_1865193079 4.97e-01 2012.02.01 2012.02.01 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 481666711 3130100 HumanOmni1-Quad_v1-0_C_rs3130100-131_T_R_1853468351 4.78e-01 2012.02.01 2012.02.01 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282628C>T;NM_001145338.1:c.*161G>A;NM_005453.4:c.*161G>A 484461100 1061783 HumanOmni2.5-4v1_D_rs1061783-131_T_F_1857125325 4.89e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282338G>A;NM_001145338.1:c.*451C>T;NM_005453.4:c.*451C>T 484461102 1061801 HumanOmni2.5-4v1_D_rs1061801-131_B_F_1857125326 1.23e-01 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283065G>A;NM_001145338.1:c.1629C>T;NM_005453.4:c.1629C>T;NP_001138810.1:p.Cys543=;NP_005444.4:p.Cys543= 485025386 2187889 HumanOmni2.5-4v1_D_rs2187889-131_B_F_1857140361 2.70e-03 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 485171190 3106189 HumanOmni2.5-4v1_D_rs3106189-131_B_R_1857412716 4.97e-01 2012.02.04 2012.02.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33282181A>G;NM_001145338.1:c.*607+1T>C;NM_005453.4:c.*607+1T>C 485174453 3130099 HumanOmni2.5-4v1_D_rs3130099-131_B_R_1857420869 4.97e-01 2012.02.04 2012.02.04 2002.03.26 2012.11.28 137 ILLUMINA 9278 NC_000006.11:g.33283252T>C;NM_001145338.1:c.1442A>G;NM_005453.4:c.1442A>G;NP_001138810.1:p.Asp481Gly;NP_005444.4:p.Asp481Gly 485230197 199783511 HumanOmni2.5-4v1_B_SNP6-33391230-0_B_F_1642529802 2012.02.04 2012.02.04 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281769G>C;NM_001145338.1:c.*607+413C>G;NM_005453.4:c.*607+413C>G 488833326 201502591 20110521_exome_91788_chr6_33281769 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282900G>T;NM_001145338.1:c.1794C>A;NM_005453.4:c.1794C>A;NP_001138810.1:p.Gly598=;NP_005444.4:p.Gly598= 488833334 200601840 20110521_exome_91792_chr6_33282900 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282945C>A;NM_001145338.1:c.1749G>T;NM_005453.4:c.1749G>T;NP_001138810.1:p.Gly583=;NP_005444.4:p.Gly583= 488833336 200053970 20110521_exome_91793_chr6_33282945 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283594G>A;NM_001145338.1:c.1100C>T;NM_005453.4:c.1100C>T;NP_001138810.1:p.Pro367Leu;NP_005444.4:p.Pro367Leu 488833340 144433957 20110521_exome_91795_chr6_33283594 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283650C>G;NM_001145338.1:c.1044G>C;NM_005453.4:c.1044G>C;NP_001138810.1:p.Val348=;NP_005444.4:p.Val348= 488833343 200966027 20110521_exome_91796_chr6_33283650 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283952C>T;NM_001145338.1:c.742G>A;NM_005453.4:c.742G>A;NP_001138810.1:p.Gly248Ser;NP_005444.4:p.Gly248Ser 488833344 202057448 20110521_exome_91797_chr6_33283952 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33284059C>T;NM_001145338.1:c.635G>A;NM_005453.4:c.635G>A;NP_001138810.1:p.Arg212Lys;NP_005444.4:p.Arg212Lys 488833346 201549530 20110521_exome_91798_chr6_33284059 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33284125C>T;NM_001145338.1:c.569G>A;NM_005453.4:c.569G>A;NP_001138810.1:p.Arg190His;NP_005444.4:p.Arg190His 488833348 200201489 20110521_exome_91799_chr6_33284125 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33281843A>T;NM_001145338.1:c.*607+339T>A;NM_005453.4:c.*607+339T>A 490923189 2239840 20110521_exome_430987_chr6_33281843 2.09e-01 2012.02.21 2012.02.21 2001.08.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33282824C>T;NM_001145338.1:c.1870G>A;NM_005453.4:c.1870G>A;NP_001138810.1:p.Glu624Lys;NP_005444.4:p.Glu624Lys 490923190 142582527 20110521_exome_430988_chr6_33282824 2.70e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283570A>T;NM_001145338.1:c.1124T>A;NM_005453.4:c.1124T>A;NP_001138810.1:p.Val375Asp;NP_005444.4:p.Val375Asp 490923195 184398210 20110521_exome_430993_chr6_33283570 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283609C>T;NM_001145338.1:c.1085G>A;NM_005453.4:c.1085G>A;NP_001138810.1:p.Arg362His;NP_005444.4:p.Arg362His 490923196 147840428 20110521_exome_430994_chr6_33283609 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 490923197 3130100 20110521_exome_430995_chr6_33283766 4.78e-01 2012.02.21 2012.02.21 2002.03.26 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 490923198 35663442 20110521_exome_430996_chr6_33283945 9.60e-03 2012.02.21 2012.02.21 2006.03.15 2012.11.28 137 1000GENOMES 9278 NC_000006.11:g.33283955C>T;NM_001145338.1:c.739G>A;NM_005453.4:c.739G>A;NP_001138810.1:p.Val247Ile;NP_005444.4:p.Val247Ile 490923199 141444056 20110521_exome_430997_chr6_33283955 1.40e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33282002C>T;NM_001145338.1:c.*607+180G>A;NM_005453.4:c.*607+180G>A 491384346 3106189 HLAsnp_100572_chr_6_33282002 4.97e-01 2012.03.05 2012.03.05 2002.03.26 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33282824C>T;NM_001145338.1:c.1870G>A;NM_005453.4:c.1870G>A;NP_001138810.1:p.Glu624Lys;NP_005444.4:p.Glu624Lys 491384347 142582527 nonsyn_100573_chr_6_33282824 2.70e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33282841G>C;NM_001145338.1:c.1853C>G;NM_005453.4:c.1853C>G;NP_001138810.1:p.Pro618Arg;NP_005444.4:p.Pro618Arg 491384348 147609143 nonsyn_100574_chr_6_33282841 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 491384349 61734030 nonsyn_100575_chr_6_33282922 6.00e-03 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283364G>A;NM_001145338.1:c.1330C>T;NM_005453.4:c.1330C>T;NP_001138810.1:p.Pro444Ser;NP_005444.4:p.Pro444Ser 491384352 145135490 nonsyn_100578_chr_6_33283364 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 491384356 3130100 nonsyn_100582_chr_6_33283766 4.78e-01 2012.03.05 2012.03.05 2002.03.26 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33281842G>T;NC_000006.11:g.33281842delGinsGA;NC_000006.11:g.33281842delGinsTT;NM_001145338.1:c.*607+340C>A;NM_001145338.1:c.*607+340delCinsAA;NM_001145338.1:c.*607+340delCinsTC;NM_005453.4:c.*607+340C>A;NM_005453.4:c.*607+340delCinsAA;NM_005453.4:c.*607+340delCinsTC 491887720 2239841 SNV-chr6-33389820 2012.03.07 2012.03.13 2001.08.15 2013.01.17 137 CLINSEQ_SNP 9278 NC_000006.11:g.33282922T>C;NM_001145338.1:c.1772A>G;NM_005453.4:c.1772A>G;NP_001138810.1:p.Glu591Gly;NP_005444.4:p.Glu591Gly 491887722 61734030 SNV-chr6-33390900 6.00e-03 2012.03.07 2012.03.13 2008.03.23 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33283261C>T;NM_001145338.1:c.1433G>A;NM_005453.4:c.1433G>A;NP_001138810.1:p.Gly478Asp;NP_005444.4:p.Gly478Asp 491887724 199756811 SNV-chr6-33391239 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33283766T>C;NM_001145338.1:c.928A>G;NM_005453.4:c.928A>G;NP_001138810.1:p.Thr310Ala;NP_005444.4:p.Thr310Ala 491887725 3130100 SNV-chr6-33391744 4.78e-01 2012.03.07 2012.03.13 2002.03.26 2012.11.28 137 CLINSEQ_SNP 9278 NC_000006.11:g.33283945C>G;NM_001145338.1:c.749G>C;NM_005453.4:c.749G>C;NP_001138810.1:p.Gly250Ala;NP_005444.4:p.Gly250Ala 491887726 35663442 SNV-chr6-33391923 9.60e-03 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 CLINSEQ_SNP 9278 ARRAY(0x2a2883b0) 491887727 141444056 SNV-chr6-33391933 1.40e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 # Report date: 2013.2.9, Gene: ZBTB22 (9278), ss count: 323, rs count: 67.