# 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 BGI 5193 NG_008447.1:g.9242_9243insT;NT_010799.15:g.8638408_8638409insA 104711747 72538150 BGI_rs5820120 2008.06.09 2008.06.09 2009.02.14 2011.07.08 132 BGI 5193 NG_008447.1:g.9242_9243insT;NT_010799.15:g.8638408_8638409insA 105481388 72538150 BGI_YHIndelrs5820120 2008.09.10 2009.06.16 2009.02.14 2011.07.08 132 1000GENOMES 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 327782793 5820120 JPTCHB_chr17_30925528_indel 2011.03.13 2011.04.03 2003.04.21 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 327907099 5820120 CEU_chr17_30925528_indel 2011.03.13 2011.04.03 2003.04.21 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 328218124 5820120 YRI_chr17_30925528_indel 2011.03.13 2011.04.04 2003.04.21 2011.10.06 132 ABI 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 40826114 5820120 hCV26175223 2005.07.17 2005.07.17 2003.04.21 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 8082098 5820120 INDEL_GP31_112337 2003.04.16 2003.10.10 2003.04.21 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 15286999 5820120 INDEL_GP34_WGS_426810 2003.11.13 2003.11.22 2003.04.21 2011.10.06 132 GMI 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 155696946 5820120 GMI_INDEL-146927 2009.06.24 2009.06.24 2003.04.21 2011.10.06 132 HGSV 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 81669388 5820120 Cor18956_DIV_20070510.chr17_30925528-30925529_1 2007.12.01 2007.12.01 2003.04.21 2011.10.06 132 HGSV 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 82213200 5820120 Cor19129_DIV_20070510.chr17_30925528-30925529_1 2007.12.02 2007.12.02 2003.04.21 2011.10.06 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.9241_9242insT;NT_010799.15:g.8638409_8638410insA 95937988 5820120 1104753455082 2008.03.24 2008.07.02 2003.04.21 2011.10.06 132 BCM-HGSC-SUB 5193 NG_008447.1:g.9241A>T;NT_010799.15:g.8638410T>A 208016395 80198380 BCM_CMT_1011-2970892 variation has been flagged as failed by submitter 2010.03.19 2010.03.19 2009.12.01 2011.07.08 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 99832239 67625342 INDEL_GP36_2007a_2941112_0 2008.05.06 2008.05.06 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428557 67625342 INDEL_GP36_2008a_2941112_1 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428560 67625342 INDEL_GP36_2008a_2941112_2 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428563 67625342 INDEL_GP36_2008a_2941112_3 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428566 67625342 INDEL_GP36_2008a_2941112_4 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428569 67625342 INDEL_GP36_2008a_2941112_5 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428572 67625342 INDEL_GP36_2008a_2941112_6 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428575 67625342 INDEL_GP36_2008a_2941112_7 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 100428578 67625342 INDEL_GP36_2008a_2941112_8 2008.05.16 2008.05.16 2009.02.06 2011.09.17 132 PJP 5193 NG_008447.1:g.9240_9241insT;NT_010799.15:g.8638410_8638411insA 294910912 67625342 DIP_348616_chr17_30925529 2011.01.22 2011.01.22 2009.02.06 2011.09.17 132 DEVINE_LAB 5193 100440270 71940694 INDEL_GP36_2008a_2825719_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 132 HGSV 5193 82213194 57043201 Cor19129_DIV_20070510.chr17_30925546-30925551_1 2007.12.02 2007.12.02 2007.12.14 2011.07.08 132 1000GENOMES 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 211793559 1037591 YRI.trio.3.2010_1356565_chr17_30925676 9.41e-02 2010.03.30 2010.03.30 2000.10.05 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 227530094 1037591 pilot_1_YRI_9339777_chr17_30925676 9.41e-02 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 243532212 1037591 pilot_1_CHB+JPT_5417289_chr17_30925676 9.41e-02 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 43972171 1037591 hCV7447789 9.41e-02 2005.07.18 2005.07.18 2000.10.05 2011.09.09 132 BCM_SSAHASNP 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 10851298 1037591 chr17.NT_010799.13_8635343 9.41e-02 2003.06.30 2003.10.10 2000.10.05 2011.09.09 132 BCM_SSAHASNP 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 14280946 1037591 chr17.NT_010799.14_8638543 9.41e-02 2003.11.07 2003.11.22 2000.10.05 2011.09.09 132 CSHL-HAPMAP 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 20031718 1037591 CSHL-HuFF-200402.chr17.NT_010799.14_8638543 9.41e-02 2004.02.22 2004.03.04 2000.10.05 2011.09.09 132 ENSEMBL 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 161828882 1037591 ENSSNP1325479 9.41e-02 2009.09.25 2009.09.25 2000.10.05 2011.09.09 132 HGSV 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 83946358 1037591 Cor18956_SNV_20070510.chr17_30925676 9.41e-02 2007.12.06 2007.12.06 2000.10.05 2011.09.09 132 TSC-CSHL 5193 NG_008447.1:g.9094T>A;NT_010799.15:g.8638557A>T 1503762 1037591 TSC0342802 9.41e-02 2000.09.07 2004.04.07 2000.10.05 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 227530095 12939138 pilot_1_YRI_9339778_chr17_30925691 5.07e-02 2010.04.22 2010.04.22 2004.04.05 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 237230738 12939138 pilot_1_CEU_6835367_chr17_30925691 5.07e-02 2010.05.01 2010.05.01 2004.04.05 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 243532213 12939138 pilot_1_CHB+JPT_5417290_chr17_30925691 5.07e-02 2010.05.01 2010.05.01 2004.04.05 2011.09.09 132 ABI 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 43987106 12939138 hCV9254317 5.07e-02 2005.07.18 2005.07.18 2004.04.05 2011.09.09 132 ENSEMBL 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 136580834 12939138 ENSSNP1325480 5.07e-02 2009.05.15 2009.10.15 2004.04.05 2011.09.09 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 96590695 12939138 1103645314312 5.07e-02 2008.03.26 2008.03.26 2004.04.05 2011.09.09 132 ILLUMINA 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 75201462 12939138 ILMN_Human_1M_rs12939138 5.07e-02 2007.08.29 2007.08.29 2004.04.05 2011.09.09 132 ILLUMINA 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 160308152 12939138 HumanOmni1-Quad_v1-0_B_rs12939138-128_B_F_1514167618 5.07e-02 2009.08.06 2009.10.02 2004.04.05 2011.09.09 132 ILLUMINA 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 172283640 12939138 Human1M-Duov3_B_rs12939138-127_B_F_1514167618 5.07e-02 2009.10.02 2009.10.02 2004.04.05 2011.09.09 132 KRIBB_YJKIM 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 119818235 12939138 KHS1859541 5.07e-02 2009.02.05 2009.02.05 2004.04.05 2011.09.09 132 PJP 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 292043160 12939138 SNP_1549518_chr17_30925691 5.07e-02 2011.01.21 2011.01.21 2004.04.05 2011.09.09 132 SSAHASNP 5193 NG_008447.1:g.9079G>A;NT_010799.15:g.8638572C>T 21384569 12939138 WGSA-200403-chr17.chr17.NT_010799.14_8638558 5.07e-02 2004.03.19 2004.03.19 2004.04.05 2011.09.09 132 1000GENOMES 5193 464894845 181016195 20101123_snps_11062075_chr17_33901614 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 328218125 142015601 YRI_chr17_30925728_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 BUSHMAN 5193 NG_008447.1:g.9041delA;NT_010799.15:g.8638610delT 193446346 111613136 BUSHMAN-chr17-30925728-30925729 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 LEE 5193 NG_008447.1:g.8849G>T;NT_010799.15:g.8638802C>A 1517393 1046336 219188 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 LEE 5193 NG_008447.1:g.8849G>T;NT_010799.15:g.8638802C>A 4409830 1046336 e219188 2002.04.26 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 5193 NT_010799.15:g.8638804A>G 227530096 116573313 pilot_1_YRI_9339779_chr17_30925923 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 LEE 5193 NM_000286.2:c.*917A>G;NG_008447.1:g.8773A>G;NM_000286.2:c.*917A>G;NT_010799.15:g.8638878T>C 1517392 1046335 219165 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 327782796 35050283 JPTCHB_chr17_30926030_indel 2011.03.13 2011.04.03 2006.03.14 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 327907101 35050283 CEU_chr17_30926030_indel 2011.03.13 2011.04.03 2006.03.14 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 328218126 35050283 YRI_chr17_30926030_indel 2011.03.13 2011.04.04 2006.03.14 2011.10.06 132 DEVINE_LAB 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 50115072 35050283 INDEL_GP35_WGS_323408 2006.01.24 2006.01.24 2006.03.14 2011.10.06 132 DEVINE_LAB 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 101288435 35050283 INDEL_GP36_2008a_2887106_0 2008.05.17 2008.05.17 2006.03.14 2011.10.06 132 DEVINE_LAB 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 101288440 35050283 INDEL_GP36_2008a_2887106_1 2008.05.17 2008.05.17 2006.03.14 2011.10.06 132 PJP 5193 NM_000286.2:c.*880_*883del4;NG_008447.1:g.8736_8739del4;NM_000286.2:c.*880_*883del4;NT_010799.15:g.8638912_8638915del4 294910913 35050283 DIP_348617_chr17_30926031 2011.01.22 2011.01.22 2006.03.14 2011.10.06 132 BCMHGSC_JDW 5193 NM_000286.2:c.*879_*882del4;NG_008447.1:g.8735_8738del4;NM_000286.2:c.*879_*882del4;NT_010799.15:g.8638913_8638916del4 103595882 75289895 JWB-4055916 2008.06.06 2009.05.11 2009.12.01 2011.09.17 132 DEVINE_LAB 5193 14959467 3833130 INDEL_GP34_WGS_39164 2003.11.13 2003.11.22 2002.08.28 2011.09.09 132 DEVINE_LAB 5193 15037012 3833130 INDEL_GP34_WGS_122296 2003.11.13 2003.11.22 2002.08.28 2011.09.09 132 DEVINE_LAB 5193 50296569 3833130 INDEL_GP35_WGS_557757 2006.01.24 2006.01.24 2002.08.28 2011.09.09 132 DEVINE_LAB 5193 99966077 3833130 INDEL_GP36_2007a_2945221_0 2008.05.06 2008.05.06 2002.08.28 2011.09.09 132 HGSV 5193 78011592 3833130 Cor12156_DIV_20070510.chr17_30926031-30926036_1 2007.10.16 2007.10.16 2002.08.28 2011.09.09 132 HGSV 5193 83398221 3833130 Cor18517_DIV_20070510.chr17_30926031-30926036_1 2007.12.04 2007.12.04 2002.08.28 2011.09.09 132 HGSV 5193 83892272 3833130 Cor18517_DIV_20070510.chr17_30926031-30926036_2 2007.12.06 2007.12.06 2002.08.28 2011.09.09 132 HUMANGENOME_JCVI 5193 95692586 3833130 1104685065207 2008.03.22 2008.12.03 2002.08.28 2011.09.09 132 HUMANGENOME_JCVI 5193 96567058 3833130 1103645314313 2008.03.26 2008.03.26 2002.08.28 2011.09.09 132 PJP 5193 NM_000286.2:c.*879_*882del4;NG_008447.1:g.8735_8738del4;NM_000286.2:c.*879_*882del4;NT_010799.15:g.8638913_8638916del4 294910914 75289895 DIP_348618_chr17_30926032 2011.01.22 2011.01.22 2009.12.01 2011.09.17 132 YUSUKE 5193 5019639 3833130 IMS-JST095722 2002.08.12 2003.10.10 2002.08.28 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 109739756 10068 CEU.trio.12.15.2008_3392804_chr17_30926078 3.86e-01 2008.12.16 2008.12.16 2000.09.19 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 211793561 10068 YRI.trio.3.2010_1356566_chr17_30926078 3.86e-01 2010.03.30 2010.03.30 2000.09.19 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 227530097 10068 pilot_1_YRI_9339780_chr17_30926078 3.86e-01 2010.04.22 2010.04.22 2000.09.19 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 237230739 10068 pilot_1_CEU_6835368_chr17_30926078 3.86e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 243532214 10068 pilot_1_CHB+JPT_5417291_chr17_30926078 3.86e-01 2010.05.01 2010.05.01 2000.09.19 2011.10.06 132 ABI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 44000864 10068 hCV9254318 3.86e-01 2005.07.18 2006.11.03 2000.09.19 2011.10.06 132 BCM-HGSC-SUB 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 207875899 10068 BCM_CMT_1011-2923991 3.86e-01 2010.03.19 2010.03.19 2000.09.19 2011.10.06 132 BCM_SSAHASNP 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 14281057 10068 chr17.NT_010799.14_8638945 3.86e-01 2003.11.07 2003.11.22 2000.09.19 2011.10.06 132 BGI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 103343463 10068 BGI_rs10068 3.86e-01 2008.06.06 2009.06.18 2000.09.19 2011.10.06 132 BUSHMAN 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 202413711 10068 BUSHMAN-chr17-30926077 3.86e-01 2010.03.08 2010.03.08 2000.09.19 2011.10.06 132 CGAP-GAI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 12206 10068 55014 3.86e-01 1999.08.23 2004.04.07 2000.09.19 2011.10.06 132 CGAP-GAI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 16240751 10068 1478655 3.86e-01 2003.11.18 2003.11.22 2000.09.19 2011.10.06 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 171346862 10068 NA20431_36_chr17_30926078 3.86e-01 2009.10.01 2009.10.01 2000.09.19 2011.10.06 132 CSHL-HAPMAP 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 20038817 10068 CSHL-HuFF-200402.chr17.NT_010799.14_8638945 3.86e-01 2004.02.22 2004.03.04 2000.09.19 2011.10.06 132 ENSEMBL 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 132596574 10068 ENSSNP1325481 3.86e-01 2009.05.12 2009.10.15 2000.09.19 2011.10.06 132 GMI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 157997891 10068 GMI_SNP_189953521 3.86e-01 2009.06.25 2009.06.25 2000.09.19 2011.10.06 132 HGSV 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 85056388 10068 Cor19129_SNV_20070510.chr17_30926078 3.86e-01 2007.12.08 2007.12.08 2000.09.19 2011.10.06 132 HUMANGENOME_JCVI 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 96590696 10068 1103645314314 3.86e-01 2008.03.26 2008.03.26 2000.09.19 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 65740121 10068 Human1-rs10068 3.86e-01 2006.10.10 2006.10.10 2000.09.19 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 159858806 10068 HumanOmni1-Quad_v1-0_B_rs10068-128_T_F_1562654797 3.86e-01 2009.08.04 2009.10.01 2000.09.19 2011.10.06 132 ILLUMINA-UK 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 118043914 10068 NA18507_000037902_NCBI36.1_chr17_30926078 3.86e-01 2009.01.20 2009.01.20 2000.09.19 2011.10.06 132 LEE 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 1517387 10068 219042 3.86e-01 2000.09.13 2003.10.10 2000.09.19 2011.10.06 132 LEE 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 4392628 10068 ge219064 3.86e-01 2002.04.25 2003.10.10 2000.09.19 2011.10.06 132 LEE 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 4409825 10068 e219042 3.86e-01 2002.04.26 2003.10.10 2000.09.19 2011.10.06 132 PJP 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 292043161 10068 SNP_1549519_chr17_30926078 3.86e-01 2011.01.21 2011.01.21 2000.09.19 2011.10.06 132 SSAHASNP 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 21388962 10068 WGSA-200403-chr17.chr17.NT_010799.14_8638945 3.86e-01 2004.03.19 2004.03.19 2000.09.19 2011.10.06 132 TSC-CSHL 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 3098975 10068 TSC1199558 3.86e-01 2001.06.07 2003.10.10 2000.09.19 2011.10.06 132 TSC-CSHL 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 5212111 10068 TSC1203083 3.86e-01 2002.09.20 2004.05.16 2000.09.19 2011.10.06 132 YUSUKE 5193 NM_000286.2:c.*836G>C;NG_008447.1:g.8692G>C;NM_000286.2:c.*836G>C;NT_010799.15:g.8638959C>G 4930381 10068 IMS-JST095723 3.86e-01 2002.08.01 2003.10.10 2000.09.19 2011.10.06 132 1000GENOMES 5193 464894846 185900922 20101123_snps_11062076_chr17_33902020 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 339665000 148895599 20100804_snps_11308541_chr17_33902051 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 LEE 5193 NM_000286.2:c.*690T>A;NG_008447.1:g.8546T>A;NM_000286.2:c.*690T>A;NT_010799.15:g.8639105A>T 1517379 1046326 218786 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.*636T>C;NG_008447.1:g.8492T>C;NM_000286.2:c.*636T>C;NT_010799.15:g.8639159A>G 227530098 111424374 pilot_1_YRI_9339781_chr17_30926278 1.55e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 132 BUSHMAN 5193 NM_000286.2:c.*636T>C;NG_008447.1:g.8492T>C;NM_000286.2:c.*636T>C;NT_010799.15:g.8639159A>G 202413716 111424374 BUSHMAN-chr17-30926277 1.55e-02 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 5193 327907104 147669127 CEU_chr17_30926343_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 DEVINE_LAB 5193 8082099 5820121 INDEL_GP31_7668 2003.04.16 2003.10.10 2003.04.21 2011.07.08 132 DEVINE_LAB 5193 49873722 5820121 INDEL_GP35_TSC_48700 2006.01.23 2006.01.23 2003.04.21 2011.07.08 132 DEVINE_LAB 5193 99524975 5820121 INDEL_GP36_2007a_250133_0 2008.05.05 2008.05.05 2003.04.21 2011.07.08 132 TSC-CSHL 5193 4262897 3031851 TSC1547921 2001.11.09 2003.10.10 2002.01.05 2011.07.08 132 1000GENOMES 5193 327782799 147182821 JPTCHB_chr17_30926361_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 BGI 5193 104711748 77890179 BGI_YHIndel29701 2008.06.09 2009.06.16 2009.12.01 2011.07.08 132 GMI 5193 155696954 80164093 GMI_INDEL-146928 2009.06.24 2009.06.24 2009.12.01 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 109739760 1046321 CEU.trio.12.15.2008_3392805_chr17_30926397 3.43e-01 2008.12.16 2008.12.16 2000.10.05 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 113488721 1046321 NA19240_2008_12_16_3052340_chr17_30926397 3.43e-01 2008.12.18 2008.12.18 2000.10.05 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 227530099 1046321 pilot_1_YRI_9339782_chr17_30926397 3.43e-01 2010.04.22 2010.04.22 2000.10.05 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 237230740 1046321 pilot_1_CEU_6835369_chr17_30926397 3.43e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 243532215 1046321 pilot_1_CHB+JPT_5417292_chr17_30926397 3.43e-01 2010.05.01 2010.05.01 2000.10.05 2011.09.09 132 ABI 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 44014434 1046321 hCV1467051 3.43e-01 2005.07.18 2005.07.18 2000.10.05 2011.09.09 132 BCM-HGSC-SUB 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 207834170 1046321 BCM_CMT_1011-2910095 3.43e-01 2010.03.19 2010.03.19 2000.10.05 2011.09.09 132 BCMHGSC_JDW 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 90577148 1046321 JWB-1017215 3.43e-01 2008.02.29 2008.02.29 2000.10.05 2011.09.09 132 BGI 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 103343464 1046321 BGI_rs1046321 3.43e-01 2008.06.06 2009.06.18 2000.10.05 2011.09.09 132 BL 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 255605561 1046321 SNP37071_17_30926397 3.43e-01 2010.08.20 2010.08.20 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 168069944 1046321 NA07022_36_chr17_30926397 3.43e-01 2009.09.30 2009.09.30 2000.10.05 2011.09.09 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 169507985 1046321 NA19240_36_chr17_30926397 3.43e-01 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 ENSEMBL 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 136580831 1046321 ENSSNP1325482 3.43e-01 2009.05.15 2009.10.15 2000.10.05 2011.09.09 132 ENSEMBL 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 137052886 1046321 ENSSNP11231891 3.43e-01 2009.05.16 2009.05.16 2000.10.05 2011.09.09 132 HGBASE 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 2425675 1046321 SNP000013373 3.43e-01 2000.11.07 2003.10.10 2000.10.05 2011.09.09 132 ILLUMINA 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 159896176 1046321 HumanOmni1-Quad_v1-0_B_rs1046321-128_T_F_1562646487 3.43e-01 2009.08.04 2009.10.01 2000.10.05 2011.09.09 132 KWOK 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 2007214 1046321 OVLP-000925-390572 3.43e-01 2000.10.06 2004.05.16 2000.10.05 2011.09.09 132 LEE 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 1517373 1046321 218498 3.43e-01 2000.09.13 2003.10.10 2000.10.05 2011.09.09 132 LEE 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 4392622 1046321 ge218498 3.43e-01 2002.04.25 2003.10.10 2000.10.05 2011.09.09 132 LEE 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 4409814 1046321 e218498 3.43e-01 2002.04.26 2003.10.10 2000.10.05 2011.09.09 132 PJP 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 292043162 1046321 SNP_1549520_chr17_30926397 3.43e-01 2011.01.21 2011.01.21 2000.10.05 2011.09.09 132 SC_JCM 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 3664794 1046321 AC019325.4_38526 3.43e-01 2001.09.25 2003.10.10 2000.10.05 2011.09.09 132 SSAHASNP 5193 NM_000286.2:c.*517A>G;NG_008447.1:g.8373A>G;NM_000286.2:c.*517A>G;NT_010799.15:g.8639278T>C 21384764 1046321 WGSA-200403-chr17.chr17.NT_010799.14_8639264 3.43e-01 2004.03.19 2004.03.19 2000.10.05 2011.09.09 132 1000GENOMES 5193 464894847 192370696 20101123_snps_11062077_chr17_33902292 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.*297T>C;NG_008447.1:g.8153T>C;NM_000286.2:c.*297T>C;NT_010799.15:g.8639498A>G 227530100 113891712 pilot_1_YRI_9339783_chr17_30926617 1.55e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 132 BUSHMAN 5193 NM_000286.2:c.*297T>C;NG_008447.1:g.8153T>C;NM_000286.2:c.*297T>C;NT_010799.15:g.8639498A>G 202413721 113891712 BUSHMAN-chr17-30926616 1.55e-02 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 211793563 1037590 YRI.trio.3.2010_1356567_chr17_30926748 2.41e-01 2010.03.30 2010.03.30 2000.10.05 2011.12.15 132 1000GENOMES 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 227530101 1037590 pilot_1_YRI_9339784_chr17_30926748 2.41e-01 2010.04.22 2010.04.22 2000.10.05 2011.12.15 132 1000GENOMES 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 237230741 1037590 pilot_1_CEU_6835370_chr17_30926748 2.41e-01 2010.05.01 2010.05.01 2000.10.05 2011.12.15 132 1000GENOMES 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 243532216 1037590 pilot_1_CHB+JPT_5417293_chr17_30926748 2.41e-01 2010.05.01 2010.05.01 2000.10.05 2011.12.15 132 ABI 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 44042467 1037590 hCV9254322 2.41e-01 2005.07.18 2005.07.18 2000.10.05 2011.12.15 132 BCM_SSAHASNP 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 14286148 1037590 chr17.NT_010799.14_8639615 2.41e-01 2003.11.07 2003.11.22 2000.10.05 2011.12.15 132 BGI 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 103343465 1037590 BGI_rs1037590 2.41e-01 2008.06.06 2009.06.18 2000.10.05 2011.12.15 132 BUSHMAN 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 202413725 1037590 BUSHMAN-chr17-30926747 2.41e-01 2010.03.08 2010.03.08 2000.10.05 2011.12.15 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 171346873 1037590 NA20431_36_chr17_30926748 2.41e-01 2009.10.01 2009.10.01 2000.10.05 2011.12.15 132 ENSEMBL 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 132596578 1037590 ENSSNP1325484 2.41e-01 2009.05.12 2009.10.15 2000.10.05 2011.12.15 132 GMI 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 157997897 1037590 GMI_SNP_24783157 2.41e-01 2009.06.25 2009.06.25 2000.10.05 2011.12.15 132 HGSV 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 80209903 1037590 Cor18507_SNV_20070510.chr17_30926748 2.41e-01 2007.11.25 2007.11.25 2000.10.05 2011.12.15 132 HUMANGENOME_JCVI 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 96590697 1037590 1103645314317 2.41e-01 2008.03.26 2008.03.26 2000.10.05 2011.12.15 132 ILLUMINA 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 65732317 1037590 Human1-rs1037590 2.41e-01 2006.10.10 2006.10.10 2000.10.05 2011.12.15 132 ILLUMINA 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 75004831 1037590 ILMN_Human_1M_rs1037590 2.41e-01 2007.08.29 2007.08.29 2000.10.05 2011.12.15 132 ILLUMINA 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 159888618 1037590 HumanOmni1-Quad_v1-0_B_rs1037590-128_B_R_1513951484 2.41e-01 2009.08.04 2009.10.01 2000.10.05 2011.12.15 132 ILLUMINA 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 170013235 1037590 Human1M-Duov3_B_rs1037590-127_B_R_1513951484 2.41e-01 2009.10.01 2009.10.01 2000.10.05 2011.12.15 132 ILLUMINA 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 410886490 1037590 Cardio-Metabo_Chip_11395247_A_rs1037590 2.41e-01 2011.06.07 2011.06.07 2000.10.05 2011.12.15 132 ILLUMINA-UK 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 118043916 1037590 NA18507_000037903_NCBI36.1_chr17_30926748 2.41e-01 2009.01.20 2009.01.20 2000.10.05 2011.12.15 132 KRIBB_YJKIM 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 119379208 1037590 KHS1541455 2.41e-01 2009.02.04 2009.02.04 2000.10.05 2011.12.15 132 LEE 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 4409811 1037590 e218485 2.41e-01 2002.04.26 2003.10.10 2000.10.05 2011.12.15 132 PJP 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 292043163 1037590 SNP_1549521_chr17_30926748 2.41e-01 2011.01.21 2011.01.21 2000.10.05 2011.12.15 132 TSC-CSHL 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 1503761 1037590 TSC0342801 2.41e-01 2000.09.07 2004.05.16 2000.10.05 2011.12.15 132 YUSUKE 5193 NM_000286.2:c.*166C>A;NG_008447.1:g.8022C>A;NM_000286.2:c.*166C>A;NT_010799.15:g.8639629G>T 3247113 1037590 IMS-JST057198 2.41e-01 2001.09.05 2003.10.10 2000.10.05 2011.12.15 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.959C>T NM_000286.2:c.959C>T;NG_008447.1:g.7735C>T;NP_000277.1:p.Ser320Phe;NM_000286.2:c.959C>T;NT_010799.15:g.8639916G>A;NP_000277.1:p.Ser320Phe 86366243 28936697 PEX12_00673 Germline 2008.02.25 2011.03.22 2005.05.24 2011.09.09 132 OMICIA 5193 NC_000017.9:g.30927035G>A NM_000286.2:c.959C>T;NG_008447.1:g.7735C>T;NP_000277.1:p.Ser320Phe;NM_000286.2:c.959C>T;NT_010799.15:g.8639916G>A;NP_000277.1:p.Ser320Phe 244239605 28936697 2010_April_001_175_PEX12_601758_0006 Germline 2010.05.27 2010.05.28 2005.05.24 2011.09.09 132 OMIM-CURATED-RECORDS 5193 NP_000277.1:p.SER320PHE NM_000286.2:c.959C>T;NG_008447.1:g.7735C>T;NP_000277.1:p.Ser320Phe;NM_000286.2:c.959C>T;NT_010799.15:g.8639916G>A;NP_000277.1:p.Ser320Phe 263193626 28936697 10543 Germline 2010.10.28 2010.10.28 2005.05.24 2011.09.09 132 OMIMSNP 5193 NM_000286.2:c.959C>T;NG_008447.1:g.7735C>T;NP_000277.1:p.Ser320Phe;NM_000286.2:c.959C>T;NT_010799.15:g.8639916G>A;NP_000277.1:p.Ser320Phe 38342208 28936697 OMIM_601758_0006 Germline 2005.05.17 2005.05.17 2005.05.24 2011.09.09 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.949C>T NM_000286.2:c.949C>T;NG_008447.1:g.7725C>T;NP_000277.1:p.Leu317Phe;NM_000286.2:c.949C>T;NT_010799.15:g.8639926G>A;NP_000277.1:p.Leu317Phe 86366239 61752112 PEX12_05029 Germline 2008.02.25 2011.03.22 2008.03.23 2011.09.09 132 OMIM-CURATED-RECORDS 5193 NP_000277.1:p.LEU317PHE NM_000286.2:c.949C>T;NG_008447.1:g.7725C>T;NP_000277.1:p.Leu317Phe;NM_000286.2:c.949C>T;NT_010799.15:g.8639926G>A;NP_000277.1:p.Leu317Phe 263193628 61752112 10547 Germline 2010.10.28 2010.10.28 2008.03.23 2011.09.09 132 ENSEMBL 5193 NM_000286.2:c.934G>C;NG_008447.1:g.7710G>C;NP_000277.1:p.Val312Leu;NM_000286.2:c.934G>C;NT_010799.15:g.8639941C>G;NP_000277.1:p.Val312Leu 137052889 76127905 ENSSNP11231892 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 1000GENOMES 5193 339665001 145574816 20100804_snps_11308542_chr17_33902978 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.887_888del2 NM_000286.2:c.887_888del2;NG_008447.1:g.7663_7664del2;NM_000286.2:c.887_888del2;NT_010799.15:g.8639987_8639988del2 86366227 61752110 PEX12_05005.1 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.887delT NM_000286.2:c.887delT;NG_008447.1:g.7663delT;NP_000277.1:p.Leu296fx;NM_000286.2:c.887delT;NT_010799.15:g.8639988delA;NP_000277.1:p.Leu296fx 86366232 61752111 PEX12_00644 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.875_876del2 NM_000286.2:c.875_876del2;NG_008447.1:g.7651_7652del2;NM_000286.2:c.875_876del2;NT_010799.15:g.8639999_8640000del2 86366220 61752109 PEX12_05008 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 1000GENOMES 5193 464894848 138720627 20101123_snps_11062078_chr17_33903014 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 5193 342450927 138720627 ESP2500-chr17-33903014 2011.03.27 2011.03.27 2011.05.09 2011.10.06 132 NHLBI-ESP 5193 342450928 142726996 ESP2500-chr17-33903088 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.744_745insT NM_000286.2:c.744_745insA;NT_010799.15:g.8640130_8640131insA;NM_000286.2:c.744_745insT;NG_008447.1:g.7520_7521insT 86366213 61752108 PEX12_00097 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.733_734insGCCT NM_000286.2:c.733_734ins4;NG_008447.1:g.7509_7510ins4;NM_000286.2:c.733_734ins4;NT_010799.15:g.8640141_8640142ins4 86366209 61752107 PEX12_00633.1 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 227530102 12941376 pilot_1_YRI_9339785_chr17_30927261 8.68e-03 2010.04.22 2010.04.22 2004.04.05 2011.09.09 132 ABI 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 43998701 12941376 hCV9254323 8.68e-03 2005.07.18 2008.03.31 2004.04.05 2011.09.09 132 AFFY 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 74816273 12941376 SNP_M-311965 8.68e-03 2007.08.09 2007.08.09 2004.04.05 2011.09.09 132 ENSEMBL 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 136580824 12941376 ENSSNP1325485 8.68e-03 2009.05.15 2009.10.15 2004.04.05 2011.09.09 132 HUMANGENOME_JCVI 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 96590698 12941376 1103645314318 8.68e-03 2008.03.26 2008.03.26 2004.04.05 2011.09.09 132 ILLUMINA 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 160308293 12941376 HumanOmni1-Quad_v1-0_B_rs12941376-128_T_F_1562392261 8.68e-03 2009.08.06 2009.10.02 2004.04.05 2011.09.09 132 NHLBI-ESP 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 342450929 12941376 ESP2500-chr17-33903148 8.68e-03 2011.03.27 2011.03.27 2004.04.05 2011.09.09 132 PJP 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 292043164 12941376 SNP_1549522_chr17_30927261 8.68e-03 2011.01.21 2011.01.21 2004.04.05 2011.09.09 132 SSAHASNP 5193 NM_000286.2:c.733T>A;NG_008447.1:g.7509T>A;NP_000277.1:p.Leu245Ile;NM_000286.2:c.733T>A;NT_010799.15:g.8640142A>T;NP_000277.1:p.Leu245Ile 21392806 12941376 WGSA-200403-chr17.chr17.NT_010799.14_8640128 8.68e-03 2004.03.20 2004.03.20 2004.04.05 2011.09.09 132 NHLBI-ESP 5193 342450930 139417458 ESP2500-chr17-33903159 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 OMICIA 5193 NC_000017.9:g.30927303T>A NM_000286.2:c.691A>T;NG_008447.1:g.7467A>T;NP_000277.1:p.Lys231X;NM_000286.2:c.691A>T;NT_010799.15:g.8640184T>A;NP_000277.1:p.Lys231X 244239594 104894616 2010_April_001_173_PEX12_601758_0004 Germline 2010.05.27 2010.05.28 2010.05.28 2011.09.09 132 OMIM-CURATED-RECORDS 5193 NP_000277.1:p.LYS231TER NM_000286.2:c.691A>T;NG_008447.1:g.7467A>T;NP_000277.1:p.Lys231X;NM_000286.2:c.691A>T;NT_010799.15:g.8640184T>A;NP_000277.1:p.Lys231X 263193624 104894616 10541 Germline 2010.10.28 2010.10.28 2010.05.28 2011.09.09 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.684_687del4 86366203 62642859 PEX12_00040 2008.02.25 2011.03.22 2008.03.25 2011.07.08 132 1000GENOMES 5193 328218127 138568975 YRI_chr17_30927314_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 1000GENOMES 5193 464894849 187526749 20101123_snps_11062079_chr17_33903202 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 5193 193446348 60965403 BUSHMAN-chr17-30927315-30927317 2010.02.16 2010.02.16 2007.12.16 2011.09.09 132 HGSV 5193 81634392 60965403 Cor19129_DIV_20070510.chr17_30927315-30927318_1 2007.12.01 2007.12.01 2007.12.16 2011.09.09 132 1000GENOMES 5193 339665002 146527335 20100804_snps_11308543_chr17_33903230 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 464894850 190481912 20101123_snps_11062080_chr17_33903276 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 327782804 144013377 JPTCHB_chr17_30927586_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 5193 327907108 144013377 CEU_chr17_30927586_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 5193 328218128 144013377 YRI_chr17_30927586_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 GMI 5193 NM_000286.2:c.681-279_681-278ins3;NG_008447.1:g.7178_7179ins3;NM_000286.2:c.681-279_681-278ins3;NT_010799.15:g.8640472_8640473ins3 155696962 56903202 GMI_INDEL-146929 2009.06.24 2009.06.24 2007.12.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-279_681-278ins3;NG_008447.1:g.7178_7179ins3;NM_000286.2:c.681-279_681-278ins3;NT_010799.15:g.8640472_8640473ins3 80088670 56903202 Cor18507_DIV_20070510.chr17_30927591-30927592_1 2007.11.24 2007.11.24 2007.12.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-279_681-278ins3;NG_008447.1:g.7178_7179ins3;NM_000286.2:c.681-279_681-278ins3;NT_010799.15:g.8640472_8640473ins3 80536700 56903202 Cor18507_DIV_20070510.chr17_30927591-30927592_2 2007.11.25 2007.11.25 2007.12.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-279_681-278ins3;NG_008447.1:g.7178_7179ins3;NM_000286.2:c.681-279_681-278ins3;NT_010799.15:g.8640472_8640473ins3 81626961 56903202 Cor19129_DIV_20070510.chr17_30927591-30927592_1 2007.12.01 2007.12.01 2007.12.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-279_681-278ins3;NG_008447.1:g.7178_7179ins3;NM_000286.2:c.681-279_681-278ins3;NT_010799.15:g.8640472_8640473ins3 81687548 56903202 Cor19129_DIV_20070510.chr17_30927591-30927592_2 2007.12.01 2007.12.01 2007.12.14 2011.09.09 132 DEVINE_LAB 5193 NM_000286.2:c.681-280_681-279ins3;NG_008447.1:g.7177_7178ins3;NM_000286.2:c.681-280_681-279ins3;NT_010799.15:g.8640473_8640474ins3 100639506 66644984 INDEL_GP36_2008a_2137769_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 132 DEVINE_LAB 5193 NM_000286.2:c.681-280_681-279ins3;NG_008447.1:g.7177_7178ins3;NM_000286.2:c.681-280_681-279ins3;NT_010799.15:g.8640473_8640474ins3 100639509 66644984 INDEL_GP36_2008a_2137769_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 132 DEVINE_LAB 5193 NM_000286.2:c.681-280_681-279ins3;NG_008447.1:g.7177_7178ins3;NM_000286.2:c.681-280_681-279ins3;NT_010799.15:g.8640473_8640474ins3 100639511 66644984 INDEL_GP36_2008a_2137769_2 2008.05.17 2008.05.17 2009.02.04 2011.07.08 132 KWOK 5193 NM_000286.2:c.681-306C>G;NG_008447.1:g.7151C>G;NM_000286.2:c.681-306C>G;NT_010799.15:g.8640500G>C 252292 191198 OVLP-000621-273417 2000.06.30 2003.10.10 2000.07.12 2011.10.06 132 KWOK 5193 NM_000286.2:c.681-306C>G;NG_008447.1:g.7151C>G;NM_000286.2:c.681-306C>G;NT_010799.15:g.8640500G>C 1066367 191198 OVLP-000804-67360 2000.09.02 2003.10.10 2000.07.12 2011.10.06 132 DEVINE_LAB 5193 NM_000286.2:c.681-307delT;NG_008447.1:g.7150delT;NM_000286.2:c.681-307delT;NT_010799.15:g.8640501delA 101449156 66778923 INDEL_GP36_2008a_1854968_0 2008.05.17 2008.05.17 2009.02.04 2011.09.09 132 DEVINE_LAB 5193 NM_000286.2:c.681-307delT;NG_008447.1:g.7150delT;NM_000286.2:c.681-307delT;NT_010799.15:g.8640501delA 101449160 66778923 INDEL_GP36_2008a_1854968_1 2008.05.17 2008.05.17 2009.02.04 2011.09.09 132 HUMANGENOME_JCVI 5193 NM_000286.2:c.681-307delT;NG_008447.1:g.7150delT;NM_000286.2:c.681-307delT;NT_010799.15:g.8640501delA 96567059 66778923 1103645314319 2008.03.26 2008.03.26 2009.02.04 2011.09.09 132 PJP 5193 NM_000286.2:c.681-307delT;NG_008447.1:g.7150delT;NM_000286.2:c.681-307delT;NT_010799.15:g.8640501delA 294910915 66778923 DIP_348619_chr17_30927620 2011.01.22 2011.01.22 2009.02.04 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 327907110 34856484 CEU_chr17_30927634_indel 2011.03.13 2011.04.03 2006.03.14 2011.09.09 132 ABI 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 40775000 34856484 hCV26175220 2005.07.17 2005.07.17 2006.03.14 2011.09.09 132 DEVINE_LAB 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 100256923 34856484 INDEL_GP36_2008a_2137770_0 2008.05.16 2008.05.16 2006.03.14 2011.09.09 132 DEVINE_LAB 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 100256927 34856484 INDEL_GP36_2008a_2137770_1 2008.05.16 2008.05.16 2006.03.14 2011.09.09 132 DEVINE_LAB 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 100256930 34856484 INDEL_GP36_2008a_2137770_2 2008.05.16 2008.05.16 2006.03.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 80088668 34856484 Cor18507_DIV_20070510.chr17_30927633-30927635_1 2007.11.24 2007.11.24 2006.03.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 80536699 34856484 Cor18507_DIV_20070510.chr17_30927633-30927635_2 2007.11.25 2007.11.25 2006.03.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 81626956 34856484 Cor19129_DIV_20070510.chr17_30927633-30927635_1 2007.12.01 2007.12.01 2006.03.14 2011.09.09 132 HGSV 5193 NM_000286.2:c.681-321delT;NG_008447.1:g.7136delT;NM_000286.2:c.681-321delT;NT_010799.15:g.8640515delA 81687543 34856484 Cor19129_DIV_20070510.chr17_30927633-30927635_2 2007.12.01 2007.12.01 2006.03.14 2011.09.09 132 BCM-HGSC-SUB 5193 NM_000286.2:c.681-322G>T;NG_008447.1:g.7135G>T;NM_000286.2:c.681-322G>T;NT_010799.15:g.8640516C>A 208000507 75777510 BCM_CMT_1011-2965551 variation has been flagged as failed by submitter 2010.03.19 2010.03.19 2009.12.01 2011.07.08 132 1000GENOMES 5193 328218129 143594736 YRI_chr17_30927645_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 1000GENOMES 5193 339665003 140983932 20100804_snps_11308544_chr17_33903581 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 464894851 183012254 20101123_snps_11062081_chr17_33903584 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 KWOK 5193 NM_000286.2:c.681-426C>T;NG_008447.1:g.7031C>T;NM_000286.2:c.681-426C>T;NT_010799.15:g.8640620G>A 254186 192942 OVLP-000621-273416 2000.06.30 2003.10.10 2000.07.12 2011.10.06 132 KWOK 5193 NM_000286.2:c.681-426C>T;NG_008447.1:g.7031C>T;NM_000286.2:c.681-426C>T;NT_010799.15:g.8640620G>A 1067934 192942 OVLP-000804-67359 2000.09.02 2003.10.10 2000.07.12 2011.10.06 132 1000GENOMES 5193 339665004 144826656 20100804_snps_11308545_chr17_33903726 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.680+330C>T;NT_010799.15:g.8640721G>A 227530103 116171260 pilot_1_YRI_9339786_chr17_30927840 1.19e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 BUSHMAN 5193 NM_000286.2:c.680+180T>C;NG_008447.1:g.6780T>C;NM_000286.2:c.680+180T>C;NT_010799.15:g.8640871A>G 202413729 112630435 BUSHMAN-chr17-30927989 2010.03.08 2010.03.08 2010.07.04 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 109739764 35542792 CEU.trio.12.15.2008_3392806_chr17_30927999 1.17e-01 2008.12.16 2008.12.16 2006.03.15 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 227530104 35542792 pilot_1_YRI_9339787_chr17_30927999 1.17e-01 2010.04.22 2010.04.22 2006.03.15 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 237230744 35542792 pilot_1_CEU_6835373_chr17_30927999 1.17e-01 2010.05.01 2010.05.01 2006.03.15 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 243532217 35542792 pilot_1_CHB+JPT_5417294_chr17_30927999 1.17e-01 2010.05.01 2010.05.01 2006.03.15 2011.07.08 132 BCM-HGSC-SUB 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 207881405 35542792 BCM_CMT_1011-2925822 1.17e-01 2010.03.19 2010.03.19 2006.03.15 2011.07.08 132 PERLEGEN 5193 NM_000286.2:c.680+171T>C;NG_008447.1:g.6771T>C;NM_000286.2:c.680+171T>C;NT_010799.15:g.8640880A>G 46553591 35542792 PS02482625 1.17e-01 2005.08.01 2005.08.01 2006.03.15 2011.07.08 132 1000GENOMES 5193 328218130 148309381 YRI_chr17_30928067_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.680+44G>A;NG_008447.1:g.6644G>A;NM_000286.2:c.680+44G>A;NT_010799.15:g.8641007C>T 339665005 16971147 20100804_snps_11308546_chr17_33904013 1.37e-03 2011.03.22 2011.03.22 2004.09.20 2011.09.09 132 PERLEGEN 5193 NM_000286.2:c.680+44G>A;NG_008447.1:g.6644G>A;NM_000286.2:c.680+44G>A;NT_010799.15:g.8641007C>T 24105687 16971147 afd2482626 1.37e-03 2004.08.21 2004.10.21 2004.09.20 2011.09.09 132 1000GENOMES 5193 339665006 141894911 20100804_snps_11308547_chr17_33904031 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 5193 342450931 142986006 ESP2500-chr17-33904056 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450932 150686993 ESP2500-chr17-33904057 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 464894852 187265849 20101123_snps_11062082_chr17_33904102 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.625C>T NM_000286.2:c.625C>T;NG_008447.1:g.6545C>T;NP_000277.1:p.Gln209X;NM_000286.2:c.625C>T;NT_010799.15:g.8641106G>A;NP_000277.1:p.Gln209X 86366197 61752106 PEX12_05005 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.604C>T NM_000286.2:c.604C>T;NG_008447.1:g.6524C>T;NP_000277.1:p.Arg202X;NM_000286.2:c.604C>T;NT_010799.15:g.8641127G>A;NP_000277.1:p.Arg202X 86366191 61752105 PEX12_05004 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 1000GENOMES 5193 464894853 192653658 20101123_snps_11062083_chr17_33904194 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.541_542insT NM_000286.2:c.541_542insA;NT_010799.15:g.8641189_8641190insA;NM_000286.2:c.541_542insT;NG_008447.1:g.6461_6462insT 86366187 61752104 PEX12_00633 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.538C>T NM_000286.2:c.538C>T;NG_008447.1:g.6458C>T;NP_000277.1:p.Arg180X;NM_000286.2:c.538C>T;NT_010799.15:g.8641193G>A;NP_000277.1:p.Arg180X 86366180 61752103 PEX12_05007 Germline 2008.02.25 2011.03.22 2008.03.23 2011.09.09 132 OMICIA 5193 NC_000017.9:g.30928312G>A NM_000286.2:c.538C>T;NG_008447.1:g.6458C>T;NP_000277.1:p.Arg180X;NM_000286.2:c.538C>T;NT_010799.15:g.8641193G>A;NP_000277.1:p.Arg180X 244239602 61752103 2010_April_001_174_PEX12_601758_0005 Germline 2010.05.27 2010.05.28 2008.03.23 2011.09.09 132 OMIM-CURATED-RECORDS 5193 NP_000277.1:p.ARG180TER NM_000286.2:c.538C>T;NG_008447.1:g.6458C>T;NP_000277.1:p.Arg180X;NM_000286.2:c.538C>T;NT_010799.15:g.8641193G>A;NP_000277.1:p.Arg180X 263193625 61752103 10542 Germline 2010.10.28 2010.10.28 2008.03.23 2011.09.09 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.533_535del3 NM_000286.2:c.533_535del3;NG_008447.1:g.6453_6455del3;NM_000286.2:c.533_535del3;NT_010799.15:g.8641196_8641198del3 86366175 61752102 PEX12_00669 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 1000GENOMES 5193 339665007 150186509 20100804_snps_11308548_chr17_33904285 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450933 150186509 ESP2500-chr17-33904285 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 339665008 138731505 20100804_snps_11308549_chr17_33904286 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450934 138731505 ESP2500-chr17-33904286 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.409C>T;NG_008447.1:g.6329C>T;NM_000286.2:c.409C>T;NT_010799.15:g.8641322G>A 464894854 17852912 20101123_snps_11062084_chr17_33904328 4.57e-04 2011.07.20 2011.07.20 2004.09.24 2011.10.06 132 MGC_GENOME_DIFF 5193 NM_000286.2:c.409C>T;NG_008447.1:g.6329C>T;NM_000286.2:c.409C>T;NT_010799.15:g.8641322G>A 28507214 17852912 BC031085x37544509-G8641308A 4.57e-04 2004.08.25 2004.08.25 2004.09.24 2011.10.06 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.308_309insT NM_000286.2:c.308_309insA;NT_010799.15:g.8641422_8641423insA;NM_000286.2:c.308_309insT;NG_008447.1:g.6228_6229insT 86366169 61752101 PEX12_05003 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.273A>T NM_000286.2:c.273A>T;NG_008447.1:g.6193A>T;NP_000277.1:p.Arg91Ser;NM_000286.2:c.273A>T;NT_010799.15:g.8641458T>A;NP_000277.1:p.Arg91Ser 86366163 28936698 PEX12_05002 Germline 2008.02.25 2011.03.22 2005.05.24 2011.09.09 132 OMICIA 5193 NC_000017.9:g.30928577T>A NM_000286.2:c.273A>T;NG_008447.1:g.6193A>T;NP_000277.1:p.Arg91Ser;NM_000286.2:c.273A>T;NT_010799.15:g.8641458T>A;NP_000277.1:p.Arg91Ser 244239601 28936698 2010_April_001_176_PEX12_601758_0009 Germline 2010.05.27 2010.05.28 2005.05.24 2011.09.09 132 OMIM-CURATED-RECORDS 5193 NM_000286.2:c.273A>T NM_000286.2:c.273A>T;NG_008447.1:g.6193A>T;NP_000277.1:p.Arg91Ser;NM_000286.2:c.273A>T;NT_010799.15:g.8641458T>A;NP_000277.1:p.Arg91Ser 263193627 28936698 10546 Germline 2010.10.28 2010.10.28 2005.05.24 2011.09.09 132 OMIMSNP 5193 NM_000286.2:c.273A>T;NG_008447.1:g.6193A>T;NP_000277.1:p.Arg91Ser;NM_000286.2:c.273A>T;NT_010799.15:g.8641458T>A;NP_000277.1:p.Arg91Ser 38342209 28936698 OMIM_601758_0009 Germline 2005.05.17 2005.05.17 2005.05.24 2011.09.09 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.268_271del4 NM_000286.2:c.268_271del4;NG_008447.1:g.6188_6191del4;NM_000286.2:c.268_271del4;NT_010799.15:g.8641460_8641463del4 86366157 61752100 PEX12_00096 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.2:c.260_261insAA NM_000286.2:c.260_261ins2;NG_008447.1:g.6180_6181ins2;NM_000286.2:c.260_261ins2;NT_010799.15:g.8641470_8641471ins2 86366151 61752099 PEX12_00645 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 NHLBI-ESP 5193 342450935 145784404 ESP2500-chr17-33904476 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450936 140611267 ESP2500-chr17-33904492 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.202_204del3 86366145 61752098 PEX12_00095 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 ABI 5193 NM_000286.2:c.127-1delG;NG_008447.1:g.6046delG;NM_000286.2:c.127-1delG;NT_010799.15:g.8641605delC 40758809 36033015 hCV32733564 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 5193 339665009 143036724 20100804_snps_11308550_chr17_33904665 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.126+123A>C;NG_008447.1:g.5865A>C;NM_000286.2:c.126+123A>C;NT_010799.15:g.8641786T>G 243532218 2278951 pilot_1_CHB+JPT_5417295_chr17_30928905 4.62e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 BGI 5193 NM_000286.2:c.126+123A>C;NG_008447.1:g.5865A>C;NM_000286.2:c.126+123A>C;NT_010799.15:g.8641786T>G 103343466 2278951 BGI_rs2278951 4.62e-02 2008.06.06 2009.06.18 2001.09.28 2011.09.09 132 GMI 5193 NM_000286.2:c.126+123A>C;NG_008447.1:g.5865A>C;NM_000286.2:c.126+123A>C;NT_010799.15:g.8641786T>G 157997906 2278951 GMI_SNP_26001113 4.62e-02 2009.06.25 2009.06.25 2001.09.28 2011.09.09 132 PERLEGEN 5193 NM_000286.2:c.126+123A>C;NG_008447.1:g.5865A>C;NM_000286.2:c.126+123A>C;NT_010799.15:g.8641786T>G 24105691 2278951 afd2482627 4.62e-02 2004.08.21 2004.09.13 2001.09.28 2011.09.09 132 YUSUKE 5193 NM_000286.2:c.126+123A>C;NG_008447.1:g.5865A>C;NM_000286.2:c.126+123A>C;NT_010799.15:g.8641786T>G 3216373 2278951 IMS-JST026457 4.62e-02 2001.09.05 2003.10.10 2001.09.28 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.126+83C>T;NG_008447.1:g.5825C>T;NM_000286.2:c.126+83C>T;NT_010799.15:g.8641826G>A 109739768 72828042 CEU.trio.12.15.2008_3392807_chr17_30928945 8.23e-03 2008.12.16 2008.12.16 2009.02.14 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.126+83C>T;NG_008447.1:g.5825C>T;NM_000286.2:c.126+83C>T;NT_010799.15:g.8641826G>A 237230745 72828042 pilot_1_CEU_6835374_chr17_30928945 8.23e-03 2010.05.01 2010.05.01 2009.02.14 2011.07.08 132 1000GENOMES 5193 464894855 187508249 20101123_snps_11062085_chr17_33904861 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 5193 342450937 144259891 ESP2500-chr17-33904914 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 339665010 147530802 20100804_snps_11308551_chr17_33904939 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450938 147530802 ESP2500-chr17-33904939 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 NHLBI-ESP 5193 342450939 141198490 ESP2500-chr17-33904948 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 464894856 193253559 20101123_snps_11062086_chr17_33905000 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 DBPEX_MCGILL_JHH 5193 NM_000286.1:c.26_27del2 NM_000286.2:c.26_27del2;NG_008447.1:g.5642_5643del2;NM_000286.2:c.26_27del2;NT_010799.15:g.8642008_8642009del2 86366137 61752097 PEX12_00099 2008.02.25 2011.03.22 2008.03.23 2011.07.08 132 NHLBI-ESP 5193 342450940 143621995 ESP2500-chr17-33905021 2011.03.27 2011.03.27 2011.05.09 2011.07.08 132 1000GENOMES 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 109739772 321600 CEU.trio.12.15.2008_3392808_chr17_30929581 1.42e-01 2008.12.16 2008.12.16 2000.07.12 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 113488725 321600 NA19240_2008_12_16_3052341_chr17_30929581 1.42e-01 2008.12.18 2008.12.18 2000.07.12 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 227530105 321600 pilot_1_YRI_9339788_chr17_30929581 1.42e-01 2010.04.22 2010.04.22 2000.07.12 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 237230746 321600 pilot_1_CEU_6835375_chr17_30929581 1.42e-01 2010.05.01 2010.05.01 2000.07.12 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 243532219 321600 pilot_1_CHB+JPT_5417296_chr17_30929581 1.42e-01 2010.05.01 2010.05.01 2000.07.12 2011.10.06 132 ABI 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 44049097 321600 hCV7447805 1.42e-01 2005.07.18 2006.11.03 2000.07.12 2011.10.06 132 BCM-HGSC-SUB 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 207914743 321600 BCM_CMT_1011-2936852 1.42e-01 2010.03.19 2010.03.19 2000.07.12 2011.10.06 132 BCMHGSC_JDW 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 90577150 321600 JWB-1017216 1.42e-01 2008.02.29 2008.02.29 2000.07.12 2011.10.06 132 BCM_SSAHASNP 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 10855569 321600 chr17.NT_010799.13_8639248 1.42e-01 2003.06.30 2003.10.10 2000.07.12 2011.10.06 132 BCM_SSAHASNP 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 14297191 321600 chr17.NT_010799.14_8642448 1.42e-01 2003.11.07 2003.11.22 2000.07.12 2011.10.06 132 BGI 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 106505108 321600 BGI_rs321600 1.42e-01 2008.09.16 2009.06.18 2000.07.12 2011.10.06 132 BL 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 255605566 321600 SNP37072_17_30929581 1.42e-01 2010.08.20 2010.08.20 2000.07.12 2011.10.06 132 BUSHMAN 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 202413733 321600 BUSHMAN-chr17-30929580 1.42e-01 2010.03.08 2010.03.08 2000.07.12 2011.10.06 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 168069956 321600 NA07022_36_chr17_30929581 1.42e-01 2009.09.30 2009.09.30 2000.07.12 2011.10.06 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 169507995 321600 NA19240_36_chr17_30929581 1.42e-01 2009.10.01 2009.10.01 2000.07.12 2011.10.06 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 171346880 321600 NA20431_36_chr17_30929581 1.42e-01 2009.10.01 2009.10.01 2000.07.12 2011.10.06 132 ENSEMBL 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 136580822 321600 ENSSNP1325486 1.42e-01 2009.05.15 2009.10.15 2000.07.12 2011.10.06 132 ENSEMBL 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 137052893 321600 ENSSNP11231893 1.42e-01 2009.05.16 2009.05.16 2000.07.12 2011.10.06 132 GMI 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 157997912 321600 GMI_SNP_91862944 1.42e-01 2009.06.25 2009.06.25 2000.07.12 2011.10.06 132 HGSV 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 77451971 321600 Cor12156_SNV_20070510.chr17_30929581 1.42e-01 2007.10.13 2007.10.13 2000.07.12 2011.10.06 132 HGSV 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 79793380 321600 Cor18507_SNV_20070510.chr17_30929581 1.42e-01 2007.11.23 2007.11.23 2000.07.12 2011.10.06 132 HUMANGENOME_JCVI 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 96543553 321600 1103645314330 1.42e-01 2008.03.26 2008.03.26 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 66746033 321600 HumanHap300v1.1_rs321600 1.42e-01 2006.11.09 2006.11.09 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 67292975 321600 HumanHap550v1.1_rs321600 1.42e-01 2006.11.14 2006.11.14 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 67696788 321600 HumanHap650Yv1.0_rs321600 1.42e-01 2006.11.14 2006.11.14 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 70771571 321600 HumanHap550v3.0__rs321600 1.42e-01 2007.04.20 2008.03.30 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 71346926 321600 HumanHap650Yv3.0_rs321600 1.42e-01 2007.04.23 2007.04.23 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 75737899 321600 ILMN_Human_1M_rs321600 1.42e-01 2007.08.29 2007.08.29 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 79160164 321600 HumanHap300v2.0_rs321600 1.42e-01 2007.11.18 2007.11.18 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 122181068 321600 HumanCNV370v1_C_rs321600 1.42e-01 2009.04.15 2009.04.15 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 154257051 321600 Human610_Quadv1_B_rs321600-127_T_R_1501751327 1.42e-01 2009.06.20 2009.06.20 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 159433578 321600 Human660W-Quad_v1_A_rs321600-128_T_R_1501751327 1.42e-01 2009.07.07 2009.07.07 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 160616559 321600 HumanOmni1-Quad_v1-0_B_rs321600-128_T_R_1501751327 1.42e-01 2009.08.06 2009.10.04 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 171562842 321600 HumanCNV370-Quadv3_C_rs321600-127_T_R_1501751327 1.42e-01 2009.10.01 2009.10.04 2000.07.12 2011.10.06 132 ILLUMINA 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 173576331 321600 Human1M-Duov3_B_rs321600-127_T_R_1501751327 1.42e-01 2009.10.04 2009.10.04 2000.07.12 2011.10.06 132 ILLUMINA-UK 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 118043918 321600 NA18507_000037904_NCBI36.1_chr17_30929581 1.42e-01 2009.01.20 2009.01.20 2000.07.12 2011.10.06 132 KRIBB_YJKIM 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 83426341 321600 KHS458835 1.42e-01 2007.12.05 2007.12.05 2000.07.12 2011.10.06 132 KWOK 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 411425 321600 OVLP-000621-273415 1.42e-01 2000.06.30 2003.10.10 2000.07.12 2011.10.06 132 KWOK 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 884035 321600 OVLP-000804-67358 1.42e-01 2000.09.01 2003.10.10 2000.07.12 2011.10.06 132 KWOK 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 2007213 321600 OVLP-000925-390571 1.42e-01 2000.10.06 2004.05.16 2000.07.12 2011.10.06 132 PERLEGEN 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 69195404 321600 PGP03278170 1.42e-01 2007.01.30 2007.08.14 2000.07.12 2011.10.06 132 PJP 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 292043165 321600 SNP_1549523_chr17_30929581 1.42e-01 2011.01.21 2011.01.21 2000.07.12 2011.10.06 132 SC_JCM 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 3664793 321600 AC019325.4_35342 1.42e-01 2001.09.25 2003.10.10 2000.07.12 2011.10.06 132 SSAHASNP 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 21404291 321600 WGSA-200403-chr17.chr17.NT_010799.14_8642448 1.42e-01 2004.03.20 2004.03.20 2000.07.12 2011.10.06 132 WI_SSAHASNP 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 12392943 321600 chr17.NT_010799.13_8639248 1.42e-01 2003.07.04 2003.10.10 2000.07.12 2011.10.06 132 YUSUKE 5193 NM_000286.2:c.-428T>C;NG_008447.1:g.5189T>C;NM_000286.2:c.-428T>C;NT_010799.15:g.8642462A>G 3216372 321600 IMS-JST026456 1.42e-01 2001.09.05 2003.10.10 2000.07.12 2011.10.06 132 1000GENOMES 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 227530106 2278950 pilot_1_YRI_9339789_chr17_30929687 9.37e-02 2010.04.22 2010.04.22 2001.09.28 2011.09.09 132 1000GENOMES 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 243532220 2278950 pilot_1_CHB+JPT_5417297_chr17_30929687 9.37e-02 2010.05.01 2010.05.01 2001.09.28 2011.09.09 132 BCM_SSAHASNP 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 14295043 2278950 chr17.NT_010799.14_8642554 9.37e-02 2003.11.07 2006.10.25 2001.09.28 2011.09.09 132 COMPLETE_GENOMICS 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 171346891 2278950 NA20431_36_chr17_30929687 9.37e-02 2009.10.01 2009.10.01 2001.09.28 2011.09.09 132 ILLUMINA 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 75101748 2278950 ILMN_Human_1M_rs2278950 9.37e-02 2007.08.29 2007.08.29 2001.09.28 2011.09.09 132 ILLUMINA 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 160527225 2278950 HumanOmni1-Quad_v1-0_B_rs2278950-128_B_F_1514079235 9.37e-02 2009.08.06 2009.10.02 2001.09.28 2011.09.09 132 ILLUMINA 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 173242511 2278950 Human1M-Duov3_B_rs2278950-127_B_F_1514079235 9.37e-02 2009.10.03 2009.10.03 2001.09.28 2011.09.09 132 KRIBB_YJKIM 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 119426741 2278950 KHS1588988 9.37e-02 2009.02.04 2009.02.04 2001.09.28 2011.09.09 132 KYUGEN 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 28459573 2278950 QH00505 9.37e-02 2004.07.07 2006.11.02 2001.09.28 2011.09.09 132 YUSUKE 5193 NM_000286.2:c.-534C>T;NG_008447.1:g.5083C>T;NM_000286.2:c.-534C>T;NT_010799.15:g.8642568G>A 3216371 2278950 IMS-JST026455 9.37e-02 2001.09.05 2003.10.10 2001.09.28 2011.09.09 132 1000GENOMES 5193 464894857 185392500 20101123_snps_11062087_chr17_33905605 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 339665012 143985033 20100804_snps_11308553_chr17_33905737 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 109739776 321599 CEU.trio.12.15.2008_3392809_chr17_30929858 4.57e-01 2008.12.16 2008.12.16 2000.07.12 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 113488737 321599 NA19240_2008_12_16_3052342_chr17_30929858 4.57e-01 2008.12.18 2008.12.18 2000.07.12 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 227530107 321599 pilot_1_YRI_9339790_chr17_30929858 4.57e-01 2010.04.22 2010.04.22 2000.07.12 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 237230747 321599 pilot_1_CEU_6835376_chr17_30929858 4.57e-01 2010.05.01 2010.05.01 2000.07.12 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 243532221 321599 pilot_1_CHB+JPT_5417298_chr17_30929858 4.57e-01 2010.05.01 2010.05.01 2000.07.12 2011.10.06 132 ABI 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 43990276 321599 hCV7447806 4.57e-01 2005.07.18 2007.08.14 2000.07.12 2011.10.06 132 BCM-HGSC-SUB 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 207846912 321599 BCM_CMT_1011-2914309 4.57e-01 2010.03.19 2010.03.19 2000.07.12 2011.10.06 132 BCMHGSC_JDW 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 90577152 321599 JWB-1017217 4.57e-01 2008.02.29 2008.02.29 2000.07.12 2011.10.06 132 BCM_SSAHASNP 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 10855393 321599 chr17.NT_010799.13_8639525 4.57e-01 2003.06.30 2003.10.10 2000.07.12 2011.10.06 132 BGI 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 103343467 321599 BGI_rs321599 4.57e-01 2008.06.06 2009.06.18 2000.07.12 2011.10.06 132 BL 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 255605572 321599 SNP37073_17_30929858 4.57e-01 2010.08.20 2010.08.20 2000.07.12 2011.10.06 132 COMPLETE_GENOMICS 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 168069970 321599 NA07022_36_chr17_30929858 4.57e-01 2009.09.30 2009.09.30 2000.07.12 2011.10.06 132 COMPLETE_GENOMICS 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 169508011 321599 NA19240_36_chr17_30929858 4.57e-01 2009.10.01 2009.10.01 2000.07.12 2011.10.06 132 ENSEMBL 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 137052896 321599 ENSSNP11231894 4.57e-01 2009.05.16 2009.05.16 2000.07.12 2011.10.06 132 ENSEMBL 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 143507246 321599 ENSSNP5243187 4.57e-01 2009.06.06 2009.10.17 2000.07.12 2011.10.06 132 GMI 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 157997914 321599 GMI_SNP_24386947 4.57e-01 2009.06.25 2009.06.25 2000.07.12 2011.10.06 132 HGSV 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 77717382 321599 Cor12156_SNV_20070510.chr17_30929858 4.57e-01 2007.10.14 2007.10.14 2000.07.12 2011.10.06 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 96590699 321599 1103645314322 4.57e-01 2008.03.26 2008.03.26 2000.07.12 2011.10.06 132 ILLUMINA 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 65751042 321599 Human1-rs321599 4.57e-01 2006.10.10 2006.10.10 2000.07.12 2011.10.06 132 ILLUMINA 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 74896497 321599 ILMN_Human_1M_rs321599 4.57e-01 2007.08.29 2007.08.29 2000.07.12 2011.10.06 132 ILLUMINA 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 160616557 321599 HumanOmni1-Quad_v1-0_B_rs321599-128_T_F_1513937059 4.57e-01 2009.08.06 2009.10.04 2000.07.12 2011.10.06 132 ILLUMINA 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 173576329 321599 Human1M-Duov3_B_rs321599-127_T_F_1513937059 4.57e-01 2009.10.04 2009.10.04 2000.07.12 2011.10.06 132 KRIBB_YJKIM 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 119349662 321599 KHS1511909 4.57e-01 2009.02.04 2009.02.04 2000.07.12 2011.10.06 132 KWOK 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 411424 321599 OVLP-000621-273414 4.57e-01 2000.06.30 2003.10.10 2000.07.12 2011.10.06 132 KWOK 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 884034 321599 OVLP-000804-67357 4.57e-01 2000.09.01 2004.04.07 2000.07.12 2011.10.06 132 KWOK 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 2007212 321599 OVLP-000925-390570 4.57e-01 2000.10.06 2004.05.16 2000.07.12 2011.10.06 132 KYUGEN 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 28459572 321599 QH00504 4.57e-01 2004.07.07 2006.11.02 2000.07.12 2011.10.06 132 PJP 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 292043166 321599 SNP_1549524_chr17_30929858 4.57e-01 2011.01.21 2011.01.21 2000.07.12 2011.10.06 132 SC_JCM 5193 NG_008447.1:g.4912G>A;NT_010799.15:g.8642739C>T 3635005 321599 AC015911.4_34531 4.57e-01 2001.09.25 2003.10.10 2000.07.12 2011.10.06 132 SSAHASNP 5193 NG_008447.1:g.4851G>T;NT_010799.15:g.8642800C>A 21403887 12944488 WGSA-200403-chr17.chr17.NT_010799.14_8642786 2004.03.20 2004.03.20 2004.04.05 2011.07.08 132 1000GENOMES 5193 339665013 144341981 20100804_snps_11308554_chr17_33905818 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 339665014 148625489 20100804_snps_11308555_chr17_33905980 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 339665015 142125426 20100804_snps_11308556_chr17_33905989 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 339665016 151133959 20100804_snps_11308557_chr17_33906008 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.4541T>G;NT_010799.15:g.8643110A>C 243532222 16971156 pilot_1_CHB+JPT_5417299_chr17_30930229 4.62e-02 2010.05.01 2010.05.01 2004.09.20 2011.07.08 132 BGI 5193 NG_008447.1:g.4541T>G;NT_010799.15:g.8643110A>C 103343468 16971156 BGI_rs16971156 4.62e-02 2008.06.06 2009.06.18 2004.09.20 2011.07.08 132 GMI 5193 NG_008447.1:g.4541T>G;NT_010799.15:g.8643110A>C 157997925 16971156 GMI_SNP_25449436 4.62e-02 2009.06.25 2009.06.25 2004.09.20 2011.07.08 132 KYUGEN 5193 NG_008447.1:g.4541T>G;NT_010799.15:g.8643110A>C 28459571 16971156 QH00503 4.62e-02 2004.07.07 2006.11.02 2004.09.20 2011.07.08 132 ABI 5193 NG_008447.1:g.4464_4465insG;NT_010799.15:g.8643186_8643187insC 40787698 35907291 hCV32733562 2005.07.17 2005.07.17 2006.03.15 2011.07.08 132 1000GENOMES 5193 339665017 139074923 20100804_snps_11308558_chr17_33906193 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 464894858 189278951 20101123_snps_11062088_chr17_33906565 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 464894859 181691015 20101123_snps_11062089_chr17_33906714 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.3925C>T;NT_010799.15:g.8643726G>A 243532223 79093184 pilot_1_CHB+JPT_5417300_chr17_30930845 4.62e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 BGI 5193 NG_008447.1:g.3925C>T;NT_010799.15:g.8643726G>A 103343469 79093184 BGI_YHSNP0103582 4.62e-02 2008.06.06 2009.06.18 2009.12.01 2011.07.08 132 GMI 5193 NG_008447.1:g.3925C>T;NT_010799.15:g.8643726G>A 157997929 79093184 GMI_SNP_92090201 4.62e-02 2009.06.25 2009.06.25 2009.12.01 2011.07.08 132 1000GENOMES 5193 339665018 144002763 20100804_snps_11308559_chr17_33906832 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 5193 327907112 144640242 CEU_chr17_30930960_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 132 1000GENOMES 5193 328218131 144640242 YRI_chr17_30930960_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 132 1000GENOMES 5193 NT_010799.15:g.8644073G>T 227530108 115863189 pilot_1_YRI_9339791_chr17_30931192 1.10e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 5193 339665019 146515448 20100804_snps_11308560_chr17_33907113 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.3354delG;NT_010799.15:g.8644297delC 96567060 71366461 1103645314324 2008.03.26 2008.03.26 2009.02.13 2011.09.09 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.3351_3352insC;NT_010799.15:g.8644299_8644300insG 96567061 71366462 1103645314325 2008.03.26 2008.03.26 2009.02.13 2011.09.09 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.3349_3350insG;NT_010799.15:g.8644301_8644302insC 96567062 71366463 1103645314326 2008.03.26 2008.03.26 2009.02.13 2011.09.09 132 1000GENOMES 5193 NG_008447.1:g.3308C>G;NT_010799.15:g.8644343G>C 227530109 35774966 pilot_1_YRI_9339792_chr17_30931462 5.07e-02 2010.04.22 2010.04.22 2006.03.15 2011.09.09 132 ABI 5193 NG_008447.1:g.3308C>G;NT_010799.15:g.8644343G>C 40822406 35774966 hCV9254328 5.07e-02 2005.07.17 2005.07.17 2006.03.15 2011.09.09 132 ENSEMBL 5193 NG_008447.1:g.3308C>G;NT_010799.15:g.8644343G>C 132596581 35774966 ENSSNP1325487 5.07e-02 2009.05.12 2009.10.15 2006.03.15 2011.09.09 132 HUMANGENOME_JCVI 5193 NG_008447.1:g.3308C>G;NT_010799.15:g.8644343G>C 96590700 35774966 1103645314327 5.07e-02 2008.03.26 2008.03.26 2006.03.15 2011.09.09 132 PJP 5193 NG_008447.1:g.3308C>G;NT_010799.15:g.8644343G>C 292043167 35774966 SNP_1549525_chr17_30931462 5.07e-02 2011.01.21 2011.01.21 2006.03.15 2011.09.09 132 1000GENOMES 5193 339665020 141154994 20100804_snps_11308561_chr17_33907448 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BGI 5193 104711749 72538151 BGI_rs35284234 2008.06.09 2008.06.09 2009.02.14 2011.07.08 132 BGI 5193 105481390 72538151 BGI_YHIndelrs35284234 2008.09.10 2009.06.16 2009.02.14 2011.07.08 132 1000GENOMES 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 327782807 35284234 JPTCHB_chr17_30931630_indel 2011.03.13 2011.04.03 2006.03.15 2011.10.06 132 1000GENOMES 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 328218132 35284234 YRI_chr17_30931630_indel 2011.03.13 2011.04.04 2006.03.15 2011.10.06 132 ABI 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 40849399 35284234 hCV32733561 2005.07.17 2005.07.17 2006.03.15 2011.10.06 132 BUSHMAN 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 193446350 35284234 BUSHMAN-chr17-30931630-30931632 2010.02.16 2010.02.16 2006.03.15 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 102072977 35284234 INDEL_GP36_2008a_1398352_0 2008.05.18 2008.05.18 2006.03.15 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 102072979 35284234 INDEL_GP36_2008a_1398352_1 2008.05.18 2008.05.18 2006.03.15 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 102072982 35284234 INDEL_GP36_2008a_1398352_2 2008.05.18 2008.05.18 2006.03.15 2011.10.06 132 DEVINE_LAB 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 102072985 35284234 INDEL_GP36_2008a_1398352_3 2008.05.18 2008.05.18 2006.03.15 2011.10.06 132 GMI 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 155696970 35284234 GMI_INDEL-146930 2009.06.24 2009.06.24 2006.03.15 2011.10.06 132 HGSV 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 81834433 35284234 Cor19129_DIV_20070510.chr17_30931630-30931633_1 2007.12.01 2007.12.01 2006.03.15 2011.10.06 132 HGSV 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 81966890 35284234 Cor19129_DIV_20070510.chr17_30931630-30931633_2 2007.12.01 2007.12.01 2006.03.15 2011.10.06 132 PJP 5193 NG_008447.1:g.3138_3139del2;NT_010799.15:g.8644512_8644513del2 294910916 35284234 DIP_348620_chr17_30931631 2011.01.22 2011.01.22 2006.03.15 2011.10.06 132 TSC-CSHL 5193 3335465 2376178 TSC1547920 2001.09.20 2003.10.10 2001.09.28 2011.07.08 132 TSC-CSHL 5193 4262879 2376178 TSC1547919 2001.11.09 2003.10.10 2001.09.28 2011.07.08 132 BCMHGSC_JDW 5193 103692810 78099828 JWB-4105359 2008.06.06 2009.05.11 2009.12.01 2011.07.08 132 1000GENOMES 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 339665021 2889311 20100804_snps_11308562_chr17_33907649 2.50e-01 2011.03.22 2011.03.22 2001.11.05 2011.09.09 132 ABI 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 40781973 2889311 hCV9254347 2.50e-01 2005.07.17 2005.07.17 2001.11.05 2011.09.09 132 BCM_SSAHASNP 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 14284006 2889311 chr17.NT_010799.14_8644629 2.50e-01 2003.11.07 2003.11.22 2001.11.05 2011.09.09 132 BGI 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 103343470 2889311 BGI_rs2889311 2.50e-01 2008.06.06 2009.06.18 2001.11.05 2011.09.09 132 BUSHMAN 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 202413737 2889311 BUSHMAN-chr17-30931761 2.50e-01 2010.03.08 2010.03.08 2001.11.05 2011.09.09 132 COMPLETE_GENOMICS 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 171346899 2889311 NA20431_36_chr17_30931762 2.50e-01 2009.10.01 2009.10.01 2001.11.05 2011.09.09 132 CSHL-HAPMAP 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 19367174 2889311 CSHL-HuDD-200402.chr17.NT_010799.14_8644629 2.50e-01 2004.02.21 2004.03.04 2001.11.05 2011.09.09 132 CSHL-HAPMAP 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 20039618 2889311 CSHL-HuFF-200402.chr17.NT_010799.14_8644629 2.50e-01 2004.02.22 2004.03.04 2001.11.05 2011.09.09 132 ENSEMBL 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 132596586 2889311 ENSSNP1325488 2.50e-01 2009.05.12 2010.03.07 2001.11.05 2011.09.09 132 GMI 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 157997935 2889311 GMI_SNP_65593922 2.50e-01 2009.06.25 2009.06.25 2001.11.05 2011.09.09 132 HGSV 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 84825391 2889311 Cor19129_SNV_20070510.chr17_30931762 2.50e-01 2007.12.08 2007.12.08 2001.11.05 2011.09.09 132 PJP 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 292043168 2889311 SNP_1549526_chr17_30931762 2.50e-01 2011.01.21 2011.01.21 2001.11.05 2011.09.09 132 SSAHASNP 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 21403283 2889311 WGSA-200403-chr17.chr17.NT_010799.14_8644629 2.50e-01 2004.03.20 2004.03.20 2001.11.05 2011.09.09 132 TSC-CSHL 5193 NG_008447.1:g.3008C>T;NT_010799.15:g.8644643G>A 4081755 2889311 TSC1761556 2.50e-01 2001.10.02 2003.10.10 2001.11.05 2011.09.09 132 # Report date: 2012.1.24, Gene: PEX12 (5193), ss count: 437, rs count: 130.