Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACSL4 0 genome.wustl.edu 37 X 108911440 108911440 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 108911440 108911440 C T SNP ACSL4 ENST00000340800 human ensembl 69_37n -1 known missense c.1328 p.G443E 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 101 0 0.00 86 30 25.86 - - - AHCTF1 0 genome.wustl.edu 37 1 247040513 247040513 + Nonsense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 247040513 247040513 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known nonsense c.2779 p.E927* 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 149 0 0.00 153 37 19.47 - - - ALPK3 0 genome.wustl.edu 37 15 85400295 85400295 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 85400295 85400295 G A SNP ALPK3 ENST00000258888 human ensembl 69_37n +1 known missense c.2932 p.E978K 0.003 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 72 0 0.00 67 30 30.93 - - - ANK3 0 genome.wustl.edu 37 10 61965629 61965629 + Missense_Mutation SNP T T C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 61965629 61965629 T C SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.1214 p.H405R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 63 0 0.00 97 20 17.09 - - - ANKRD7 0 genome.wustl.edu 37 7 117865025 117865025 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 7 117865025 117865025 C G SNP ANKRD7 ENST00000357099 human ensembl 69_37n +1 known missense c.141 p.I47M 0.009 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 42 0 0.00 51 18 26.09 - - - APOBR 0 genome.wustl.edu 37 16 28506628 28506628 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 16 28506628 28506628 G T SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.266 p.R89I 0.026 NULL NULL - no_errors APOBR HGNC ENSG00000184730 107 0 0.00 122 23 15.86 - - - ARHGAP28 0 genome.wustl.edu 37 18 6837365 6837365 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 18 6837365 6837365 G C SNP ARHGAP28 ENST00000400091 human ensembl 69_37n +1 known missense c.495 p.K165N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 102 0 0.00 90 27 23.08 - - - ASL 0 genome.wustl.edu 37 7 65546799 65546799 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 7 65546799 65546799 C T SNP ASL ENST00000304874 human ensembl 69_37n +1 known missense c.22 p.L8F 1.000 tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 20 0 0.00 31 9 22.50 - - - ATPIF1 0 genome.wustl.edu 37 1 28562879 28562915 + Frame_Shift_Del DEL ATGTCGACCGGGGCGCGGGCTCCATCCGGGAAGCCGG ATGTCGACCGGGGCGCGGGCTCCATCCGGGAAGCCGG - TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 ATGTCGACCGGGGCGCGGGCTCCATCCGGGAAGCCGG ATGTCGACCGGGGCGCGGGCTCCATCCGGGAAGCCGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 28562879 28562915 ATGTCGACCGGGGCGCGGGCTCCATCCGGGAAGCCGG - DEL ATPIF1 ENST00000335514 human ensembl 69_37n +1 known frame_shift_del c.95_131 p.N32fs 0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.001:0.005:0.003:0.998:1.000:1.000:0.997:0.996:0.021:0.252:0.991:0.996:1.000:1.000:0.999:1.000:1.000:0.959:0.997:0.996:0.932:1.000:1.000 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 62 0 0.00 21 4 15.38 - - - BDP1 0 genome.wustl.edu 37 5 70858273 70858273 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 5 70858273 70858273 G C SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.7669 p.E2557Q 0.081 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 128 1 0.76 136 23 14.37 - - - BLOC1S1 0 genome.wustl.edu 37 12 56113352 56113352 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 12 56113352 56113352 G C SNP BLOC1S1 ENST00000548925 human ensembl 69_37n +1 known missense c.421 p.E141Q 1.000 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 49 0 0.00 51 12 19.05 - - - C14orf37 0 genome.wustl.edu 37 14 58605932 58605932 + Missense_Mutation SNP T T C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 14 58605932 58605932 T C SNP C14orf37 ENST00000267485 human ensembl 69_37n -1 known missense c.145 p.K49E 0.079 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 154 0 0.00 124 22 15.07 - - - CAP2 0 genome.wustl.edu 37 6 17551770 17551770 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 17551770 17551770 G C SNP CAP2 ENST00000229922 human ensembl 69_37n +1 known missense c.1285 p.D429H 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 120 0 0.00 138 29 17.37 - - - CCT8 0 genome.wustl.edu 37 21 30439299 30439299 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 21 30439299 30439299 C T SNP CCT8 ENST00000286788 human ensembl 69_37n -1 known missense c.475 p.E159K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 141 0 0.00 125 31 19.87 - - - CDCA2 0 genome.wustl.edu 37 8 25364913 25364913 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 25364913 25364913 C T SNP CDCA2 ENST00000330560 human ensembl 69_37n +1 known missense c.2731 p.P911S 0.286 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 88 0 0.00 65 17 20.73 - - - CDK18 0 genome.wustl.edu 37 1 205494302 205494302 + Silent SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 205494302 205494302 G C SNP CDK18 ENST00000506784 human ensembl 69_37n +1 known silent c.525 p.V175 0.997 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK18 HGNC ENSG00000117266 149 0 0.00 233 82 26.03 - - - CHCHD1 0 genome.wustl.edu 37 10 75541933 75541933 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 75541933 75541933 G T SNP CHCHD1 ENST00000372833 human ensembl 69_37n +1 known missense c.100 p.G34W 0.970 NULL pfam_CHCH,superfamily_MTCP1 - no_errors CHCHD1 HGNC ENSG00000172586 25 0 0.00 26 5 16.13 - - - CNTN4 0 genome.wustl.edu 37 3 3078931 3078931 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 3 3078931 3078931 G C SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known missense c.2011 p.E671Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 80 0 0.00 83 25 23.15 - - - COL14A1 0 genome.wustl.edu 37 8 121209170 121209170 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 121209170 121209170 G C SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.577 p.E193Q 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 127 0 0.00 127 40 23.95 - - - COL7A1 0 genome.wustl.edu 37 3 48612826 48612826 + Silent SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 3 48612826 48612826 G A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known silent c.6126 p.P2042 0.996 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 41 0 0.00 39 7 15.22 - - - CSMD1 0 genome.wustl.edu 37 8 2967831 2967831 + Nonsense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 2967831 2967831 G A SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known nonsense c.6460 p.Q2154* 0.484 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 127 0 0.00 118 36 23.38 - - - CUBN 0 genome.wustl.edu 37 10 16979594 16979594 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 16979594 16979594 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.5923 p.P1975S 0.300 NULL pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 87 0 0.00 69 21 23.33 - - - CYP7A1 0 genome.wustl.edu 37 8 59405044 59405044 + Silent SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 59405044 59405044 G C SNP CYP7A1 ENST00000301645 human ensembl 69_37n -1 known silent c.1083 p.L361 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 100 1 0.96 100 24 19.35 - - - DAPK2 0 genome.wustl.edu 37 15 64204356 64204356 + Missense_Mutation SNP A A T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 64204356 64204356 A T SNP DAPK2 ENST00000261891 human ensembl 69_37n -1 known missense c.899 p.V300E 0.831 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 28 0 0.00 20 7 25.93 - - - DHRS13 0 genome.wustl.edu 37 17 27225602 27225602 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 27225602 27225602 C G SNP DHRS13 ENST00000378895 human ensembl 69_37n -1 known missense c.991 p.E331Q 0.002 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 54 0 0.00 54 9 14.29 - - - DHX33 0 genome.wustl.edu 37 17 5356907 5356907 + Missense_Mutation SNP T T C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 5356907 5356907 T C SNP DHX33 ENST00000572490 human ensembl 69_37n -1 novel missense c.1117 p.I373V 0.020 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHX33 HGNC ENSG00000005100 111 0 0.00 79 28 26.17 - - - DMD 0 genome.wustl.edu 37 X 31792151 31792151 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 31792151 31792151 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.7468 p.D2490N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 189 0 0.00 162 22 11.96 - - - DNAH8 0 genome.wustl.edu 37 6 38830152 38830152 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 38830152 38830152 G T SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.5577 p.M1859I 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 157 0 0.00 140 30 17.54 - - - DRGX 0 genome.wustl.edu 37 10 50599285 50599285 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 50599285 50599285 G C SNP DRGX ENST00000434016 human ensembl 69_37n -1 known missense c.72 p.H24Q 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors DRGX HGNC ENSG00000165606 56 0 0.00 53 21 28.38 - - - EDC4 0 genome.wustl.edu 37 16 67914876 67914876 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 16 67914876 67914876 C T SNP EDC4 ENST00000358933 human ensembl 69_37n +1 known silent c.2514 p.C838 0.999 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 44 0 0.00 27 4 12.90 - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2492 2492 + RNA SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd MT 2492 2492 G A SNP ENSG00000210082 ENST00000387347 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210082 61 0 0.00 14 98 87.50 - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2700 2700 + RNA SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd MT 2700 2700 G A SNP ENSG00000210082 ENST00000387347 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210082 24 0 0.00 35 26 42.62 - - - ENSG00000214646 0 genome.wustl.edu 37 15 78234749 78234749 + RNA SNP A A T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 78234749 78234749 A T SNP ENSG00000214646 ENST00000568184 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.4 Clone_based_vega_gene ENSG00000214646 69 0 0.00 83 11 11.70 - - - EVPL 0 genome.wustl.edu 37 17 74005590 74005590 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 74005590 74005590 C T SNP EVPL ENST00000301607 human ensembl 69_37n -1 known silent c.3696 p.E1232 0.010 superfamily_Ferritin/RR-like pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 28 0 0.00 46 10 17.86 - - - EXPH5 0 genome.wustl.edu 37 11 108383322 108383322 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 108383322 108383322 C T SNP EXPH5 ENST00000265843 human ensembl 69_37n -1 known missense c.2912 p.R971K 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 213 0 0.00 108 40 27.03 - - - FAM111A 0 genome.wustl.edu 37 11 58920660 58920660 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 58920660 58920660 G A SNP FAM111A ENST00000361723 human ensembl 69_37n +1 known missense c.1519 p.E507K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 80 0 0.00 61 18 22.78 - - - FAM149B1 0 genome.wustl.edu 37 10 74994996 74994996 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 74994996 74994996 G A SNP FAM149B1 ENST00000242505 human ensembl 69_37n +1 known missense c.1522 p.E508K 1.000 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 101 1 0.96 79 21 21.00 - - - FAM150B 0 genome.wustl.edu 37 2 286186 286186 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 2 286186 286186 G C SNP FAM150B ENST00000403610 human ensembl 69_37n -1 novel missense c.325 p.P109A 0.994 NULL NULL - no_errors FAM150B HGNC ENSG00000189292 217 0 0.00 171 41 19.34 - - - FAM171A1 0 genome.wustl.edu 37 10 15255676 15255676 + Silent SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 15255676 15255676 G A SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known silent c.1911 p.P637 0.005 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 78 0 0.00 81 23 22.12 - - - FAM83B 0 genome.wustl.edu 37 6 54791317 54791317 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 54791317 54791317 C T SNP FAM83B ENST00000306858 human ensembl 69_37n +1 known missense c.593 p.S198L 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 68 0 0.00 67 20 22.99 - - - FBXO4 0 genome.wustl.edu 37 5 41934239 41934239 + Nonsense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 5 41934239 41934239 G T SNP FBXO4 ENST00000281623 human ensembl 69_37n +1 known nonsense c.727 p.E243* 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO4 HGNC ENSG00000151876 143 0 0.00 151 43 22.16 - - - FIP1L1 0 genome.wustl.edu 37 4 54243868 54243868 + RNA SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 4 54243868 54243868 C T SNP FIP1L1 ENST00000511376 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FIP1L1 HGNC ENSG00000145216 47 0 0.00 51 9 15.00 - - - GDF9 0 genome.wustl.edu 37 5 132197631 132197631 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 5 132197631 132197631 G C SNP GDF9 ENST00000296875 human ensembl 69_37n -1 known missense c.1015 p.L339V 0.967 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 54 0 0.00 49 9 15.52 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685261 23685263 + In_Frame_Del DEL TCT TCT - TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 23685261 23685263 TCT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative in_frame_del c.2361_2359 p.R787in_frame_del 0.002:0.002:0.003 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 11 0 0.00 13 6 31.58 - - - GOLGB1 0 genome.wustl.edu 37 3 121415260 121415260 + Silent SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 3 121415260 121415260 G T SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known silent c.4095 p.V1365 0.064 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 86 0 0.00 61 15 19.48 - - - GPR179 0 genome.wustl.edu 37 17 36486443 36486443 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 36486443 36486443 C T SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known silent c.3009 p.K1003 0.991 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 58 0 0.00 57 45 44.12 - - - GPR32 0 genome.wustl.edu 37 19 51274646 51274646 + Missense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 19 51274646 51274646 C A SNP GPR32 ENST00000270590 human ensembl 69_37n +1 known missense c.789 p.S263R 0.150 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC ENSG00000142511 82 0 0.00 103 21 16.94 - - - GPR4 0 genome.wustl.edu 37 19 46094651 46094651 + Silent SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 19 46094651 46094651 G C SNP GPR4 ENST00000323040 human ensembl 69_37n -1 known silent c.474 p.L158 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_GPR4_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_GPR4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 31 0 0.00 45 10 18.18 - - - H2BFWT 0 genome.wustl.edu 37 X 103267770 103267770 + Nonsense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 103267770 103267770 C A SNP H2BFWT ENST00000217926 human ensembl 69_37n -1 known nonsense c.463 p.E155* 0.996 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 53 0 0.00 44 8 15.38 - - - HCFC2 0 genome.wustl.edu 37 12 104460047 104460047 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 12 104460047 104460047 G A SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.266 p.G89E 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 161 0 0.00 142 29 16.96 - - - HYDIN 0 genome.wustl.edu 37 16 70989287 70989287 + Nonsense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 16 70989287 70989287 C A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known nonsense c.6304 p.E2102* 0.920 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 55 0 0.00 48 7 12.73 - - - IGHV3-20 0 genome.wustl.edu 37 14 106667991 106667991 + Missense_Mutation SNP T T C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 14 106667991 106667991 T C SNP IGHV3-20 ENST00000390606 human ensembl 69_37n -1 known missense c.43 p.K15E 0.053 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-20 HGNC ENSG00000211946 163 0 0.00 133 44 24.72 - - - IPO4 0 genome.wustl.edu 37 14 24652347 24652347 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 14 24652347 24652347 C G SNP IPO4 ENST00000561462 human ensembl 69_37n -1 putative missense c.646 p.A216P 0.899 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IPO4 HGNC ENSG00000196497 34 0 0.00 29 11 27.50 - - - IRS4 0 genome.wustl.edu 37 X 107978508 107978508 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 107978508 107978508 G C SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.1067 p.S356C 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 40 0 0.00 53 18 25.35 - - - ITIH5 0 genome.wustl.edu 37 10 7605129 7605129 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 7605129 7605129 C T SNP ITIH5 ENST00000256861 human ensembl 69_37n -1 known missense c.2746 p.D916N 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 92 0 0.00 102 32 23.88 - - - KCNU1 0 genome.wustl.edu 37 8 36663872 36663872 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 36663872 36663872 C T SNP KCNU1 ENST00000399881 human ensembl 69_37n +1 known missense c.554 p.S185F 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 178 0 0.00 186 37 16.59 - - - KDELR3 0 genome.wustl.edu 37 22 38875700 38875700 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 22 38875700 38875700 C G SNP KDELR3 ENST00000409006 human ensembl 69_37n +1 known missense c.295 p.L99V 0.657 pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 139 1 0.70 152 44 22.45 - - - KLHL25 0 genome.wustl.edu 37 15 86311940 86311940 + Missense_Mutation SNP A A T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 86311940 86311940 A T SNP KLHL25 ENST00000337975 human ensembl 69_37n -1 known missense c.1102 p.W368R 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 37 0 0.00 32 10 23.81 - - - KRT28 0 genome.wustl.edu 37 17 38955885 38955885 + Missense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 38955885 38955885 C A SNP KRT28 ENST00000306658 human ensembl 69_37n -1 known missense c.261 p.K87N 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 93 0 0.00 79 28 26.17 - - - LPP 0 genome.wustl.edu 37 3 188327441 188327441 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 3 188327441 188327441 G C SNP LPP ENST00000312675 human ensembl 69_37n +1 known missense c.922 p.G308R 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 49 0 0.00 78 10 11.36 - - - LRRC8A 0 genome.wustl.edu 37 9 131671269 131671269 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 9 131671269 131671269 C G SNP LRRC8A ENST00000259324 human ensembl 69_37n +1 known missense c.1826 p.S609C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 45 0 0.00 60 17 22.08 - - - MARCH7 0 genome.wustl.edu 37 2 160585678 160585678 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 2 160585678 160585678 G C SNP MARCH7 ENST00000259050 human ensembl 69_37n +1 known missense c.145 p.E49Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 79 0 0.00 54 26 32.10 - - - MED13L 0 genome.wustl.edu 37 12 116408458 116408458 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 12 116408458 116408458 G A SNP MED13L ENST00000281928 human ensembl 69_37n -1 known missense c.6008 p.S2003L 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 140 0 0.00 125 25 16.56 - - - METTL15 0 genome.wustl.edu 37 11 28135038 28135038 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 28135038 28135038 C G SNP METTL15 ENST00000303459 human ensembl 69_37n +1 known missense c.157 p.Q53E 0.000 NULL pfam_SAM-dep_MeTrfase_MraW,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_SAM-dep_MeTrfase_MraW - no_errors METTL15 HGNC ENSG00000169519 162 0 0.00 107 27 20.15 - - - MICAL1 0 genome.wustl.edu 37 6 109770913 109770913 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 109770913 109770913 C G SNP MICAL1 ENST00000368952 human ensembl 69_37n -1 known missense c.1438 p.D480H 1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 72 0 0.00 69 21 23.33 - - - MTM1 0 genome.wustl.edu 37 X 149828220 149828220 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 149828220 149828220 G C SNP MTM1 ENST00000370396 human ensembl 69_37n +1 known missense c.1344 p.M448I 1.000 smart_Tyr_Pase_cat pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 371 1 0.26 334 75 18.34 - - - MUC12 0 genome.wustl.edu 37 7 100646022 100646022 + Missense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 7 100646022 100646022 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.12607 p.H4203N 0.007 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 329 1 0.30 311 45 12.64 - - - MUC21 0 genome.wustl.edu 37 6 30954351 30954351 + Missense_Mutation SNP C C A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 30954351 30954351 C A SNP MUC21 ENST00000376296 human ensembl 69_37n +1 known missense c.399 p.S133R 0.628 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 141 0 0.00 101 30 22.90 - - - NOS3 0 genome.wustl.edu 37 7 150706129 150706129 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 7 150706129 150706129 G C SNP NOS3 ENST00000297494 human ensembl 69_37n +1 known missense c.2224 p.E742Q 0.887 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 22 0 0.00 20 6 22.22 - - - NUAK2 0 genome.wustl.edu 37 1 205272579 205272579 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 205272579 205272579 C T SNP NUAK2 ENST00000367157 human ensembl 69_37n -1 known silent c.1886 p.*629 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 41 0 0.00 81 12 12.77 - - - PHF17 0 genome.wustl.edu 37 4 129792615 129792615 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 4 129792615 129792615 C G SNP PHF17 ENST00000226319 human ensembl 69_37n +1 known missense c.1727 p.S576C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 195 0 0.00 171 46 21.20 - - - PLCE1 0 genome.wustl.edu 37 10 96022290 96022323 + Frame_Shift_Del DEL TTAAGAGTAAACAGCAGCTATCGGACAACCAGAG TTAAGAGTAAACAGCAGCTATCGGACAACCAGAG - TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 TTAAGAGTAAACAGCAGCTATCGGACAACCAGAG TTAAGAGTAAACAGCAGCTATCGGACAACCAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 10 96022290 96022323 TTAAGAGTAAACAGCAGCTATCGGACAACCAGAG - DEL PLCE1 ENST00000371380 human ensembl 69_37n +1 known frame_shift_del c.3854_3887 p.I1285fs 1.000:1.000:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:0.992:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.621:0.998:0.999:0.292:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 136 0 0.00 137 16 10.32 - - - PPARA 0 genome.wustl.edu 37 22 46631235 46631237 + In_Frame_Del DEL GCT GCT - TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 22 46631235 46631237 GCT - DEL PPARA ENST00000262735 human ensembl 69_37n +1 known in_frame_del c.1365_1367 p.L456in_frame_del 0.064:0.961:1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 40 0 0.00 39 11 21.57 - - - PREX1 0 genome.wustl.edu 37 20 47258785 47258785 + Nonsense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 20 47258785 47258785 G C SNP PREX1 ENST00000482556 human ensembl 69_37n -1 known nonsense c.1661 p.S554* 1.000 NULL superfamily_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PREX1 HGNC ENSG00000124126 73 0 0.00 91 16 14.81 - - - PZP 0 genome.wustl.edu 37 12 9317862 9317862 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 12 9317862 9317862 G T SNP PZP ENST00000261336 human ensembl 69_37n -1 known missense c.2360 p.S787Y 0.999 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 118 1 0.82 121 23 15.97 - - - RHCG 0 genome.wustl.edu 37 15 90016021 90016021 + Nonsense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 90016021 90016021 G T SNP RHCG ENST00000268122 human ensembl 69_37n -1 known nonsense c.1385 p.S462* 0.000 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 169 0 0.00 176 41 18.89 - - - RYR2 0 genome.wustl.edu 37 1 237868586 237868586 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 237868586 237868586 C G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.9517 p.L3173V 0.988 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 173 0 0.00 144 86 37.39 - - - SCAPER 0 genome.wustl.edu 37 15 77057342 77057342 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 15 77057342 77057342 C T SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.1685 p.R562H 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 216 0 0.00 203 41 16.80 - - - SLC17A4 0 genome.wustl.edu 37 6 25776822 25776822 + Splice_Site SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 6 25776822 25776822 G C SNP SLC17A4 ENST00000377905 human ensembl 69_37n +1 known splice_site c.988-1 e8-1 1.000 - - - no_errors SLC17A4 HGNC ENSG00000146039 174 0 0.00 160 40 20.00 - - - SLC19A3 0 genome.wustl.edu 37 2 228563717 228563717 + Silent SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 2 228563717 228563717 G C SNP SLC19A3 ENST00000258403 human ensembl 69_37n -1 known silent c.714 p.L238 0.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 170 0 0.00 140 40 22.22 - - - SLC43A1 0 genome.wustl.edu 37 11 57263602 57263602 + Silent SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 57263602 57263602 G A SNP SLC43A1 ENST00000278426 human ensembl 69_37n -1 known silent c.594 p.I198 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 80 0 0.00 63 13 17.11 - - - SPTBN1 0 genome.wustl.edu 37 2 54874337 54874337 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 2 54874337 54874337 G A SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known missense c.4936 p.E1646K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 48 0 0.00 35 11 23.91 - - - TEK 0 genome.wustl.edu 37 9 27169623 27169623 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 9 27169623 27169623 C T SNP TEK ENST00000380036 human ensembl 69_37n +1 known silent c.624 p.V208 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 63 0 0.00 62 23 27.06 - - - THRSP 0 genome.wustl.edu 37 11 77774954 77774954 + Silent SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 77774954 77774954 C G SNP THRSP ENST00000281030 human ensembl 69_37n +1 known silent c.27 p.P9 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors THRSP HGNC ENSG00000151365 69 0 0.00 65 19 22.62 - - - TIFAB 0 genome.wustl.edu 37 5 134785234 134785234 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 5 134785234 134785234 G T SNP TIFAB ENST00000537858 human ensembl 69_37n -1 known missense c.396 p.S132R 0.984 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain - no_errors TIFAB HGNC ENSG00000255833 42 0 0.00 43 11 20.37 - - - TMC8 0 genome.wustl.edu 37 17 76134257 76134257 + Silent SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 17 76134257 76134257 C T SNP TMC8 ENST00000318430 human ensembl 69_37n +1 known silent c.1521 p.F507 1.000 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 71 0 0.00 117 18 13.33 - - - TTC39A 0 genome.wustl.edu 37 1 51754571 51754571 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 51754571 51754571 G C SNP TTC39A ENST00000447632 human ensembl 69_37n -1 known missense c.1658 p.A553G 1.000 smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 111 1 0.88 115 26 18.44 - - - UNC93B1 0 genome.wustl.edu 37 11 67763132 67763132 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 11 67763132 67763132 G A SNP UNC93B1 ENST00000227471 human ensembl 69_37n -1 known missense c.1310 p.A437V 0.164 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 17 0 0.00 12 7 36.84 - - - UPRT 0 genome.wustl.edu 37 X 74519698 74519698 + Missense_Mutation SNP C C T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd X 74519698 74519698 C T SNP UPRT ENST00000373383 human ensembl 69_37n +1 known missense c.691 p.R231W 1.000 pfam_PRibTrfase pfam_PRibTrfase - no_errors UPRT HGNC ENSG00000094841 158 0 0.00 150 18 10.71 - - - USH2A 0 genome.wustl.edu 37 1 216420207 216420207 + Silent SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 1 216420207 216420207 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.2529 p.L843 0.885 smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 173 0 0.00 194 32 14.16 - - - WDR7 0 genome.wustl.edu 37 18 54424074 54424074 + Missense_Mutation SNP C C G TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 18 54424074 54424074 C G SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known missense c.2250 p.I750M 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 97 0 0.00 102 29 22.14 - - - WDR87 0 genome.wustl.edu 37 19 38379723 38379723 + Missense_Mutation SNP G G T TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 19 38379723 38379723 G T SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.4588 p.Q1530K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 90 0 0.00 97 22 18.49 - - - ZFHX4 0 genome.wustl.edu 37 8 77616522 77616522 + Missense_Mutation SNP G G A TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 8 77616522 77616522 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.199 p.E67K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 108 0 0.00 100 20 16.67 - - - ZNF606 0 genome.wustl.edu 37 19 58489941 58489941 + Missense_Mutation SNP T T C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d6ae4-162a-4136-b44f-fad42529a31a 7df4bbf4-7ac5-4fd3-b0b9-ca6e49674cfd 19 58489941 58489941 T C SNP ZNF606 ENST00000341164 human ensembl 69_37n -1 known missense c.2107 p.T703A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 157 1 0.62 102 110 51.89 - - -