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 ABCB1 0 genome.wustl.edu 37 7 87168661 87168661 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 87168661 87168661 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.2320 p.G774S 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 67 0 0.00 15 15 50.00 - - - ABCB7 0 genome.wustl.edu 37 X 74289263 74289263 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 74289263 74289263 C A SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.1395 p.Q465H 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 105 0 0.00 6 17 73.91 - - - ABHD16A 0 genome.wustl.edu 37 6 31660923 31660923 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 31660923 31660923 C G SNP ABHD16A ENST00000395952 human ensembl 69_37n -1 known missense c.507 p.K169N 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 37 0 0.00 8 11 57.89 - - - ACTL6B 0 genome.wustl.edu 37 7 100245120 100245120 + Nonsense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 100245120 100245120 T A SNP ACTL6B ENST00000160382 human ensembl 69_37n -1 known nonsense c.706 p.K236* 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 40 0 0.00 10 8 44.44 - - - ADAMTS17 0 genome.wustl.edu 37 15 100636566 100636566 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 15 100636566 100636566 C T SNP ADAMTS17 ENST00000268070 human ensembl 69_37n -1 known missense c.2132 p.G711E 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 50 0 0.00 8 5 38.46 - - - AKAP6 0 genome.wustl.edu 37 14 33147618 33147618 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 33147618 33147618 G C SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.2832 p.K944N 0.984 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 204 0 0.00 34 48 58.54 - - - AKNAD1 0 genome.wustl.edu 37 1 109395170 109395170 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 109395170 109395170 A T SNP AKNAD1 ENST00000370001 human ensembl 69_37n -1 known missense c.117 p.D39E 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 72 0 0.00 24 9 27.27 - - - AMN 0 genome.wustl.edu 37 14 103395190 103395190 + Nonsense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 103395190 103395190 G A SNP AMN ENST00000559789 human ensembl 69_37n +1 novel nonsense c.24 p.W8* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon AMN HGNC ENSG00000166126 55 0 0.00 3 6 66.67 - - - ANGPTL1 0 genome.wustl.edu 37 1 178834198 178834198 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 178834198 178834198 C A SNP ANGPTL1 ENST00000234816 human ensembl 69_37n -1 known missense c.714 p.E238D 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC ENSG00000116194 73 0 0.00 47 11 18.97 - - - ANO4 0 genome.wustl.edu 37 12 101430911 101430911 + Missense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 101430911 101430911 G T SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known missense c.880 p.A294S 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 271 0 0.00 80 209 72.32 - - - APOB 0 genome.wustl.edu 37 2 21251331 21251331 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 21251331 21251331 A G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.1697 p.M566T 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 91 0 0.00 26 12 31.58 - - - APOB 0 genome.wustl.edu 37 2 21251332 21251332 + Missense_Mutation SNP T T G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 21251332 21251332 T G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.1696 p.M566L 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 94 0 0.00 26 12 31.58 - - - ARFGAP2 0 genome.wustl.edu 37 11 47198382 47198382 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 11 47198382 47198382 G A SNP ARFGAP2 ENST00000524782 human ensembl 69_37n -1 known missense c.23 p.T8I 0.997 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 52 0 0.00 15 4 21.05 - - - ASMTL 0 genome.wustl.edu 37 X 1558027 1558027 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 1558027 1558027 C T SNP ASMTL ENST00000381317 human ensembl 69_37n -1 known missense c.236 p.R79Q 0.974 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 197 0 0.00 59 13 18.06 - - - BIRC6 0 genome.wustl.edu 37 2 32656007 32656007 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 32656007 32656007 A G SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.3097 p.T1033A 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 123 0 0.00 35 17 32.69 - - - C14orf119 0 genome.wustl.edu 37 14 23566911 23566911 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 23566911 23566911 C A SNP C14orf119 ENST00000319074 human ensembl 69_37n +1 known missense c.44 p.S15Y 0.100 NULL NULL - no_errors C14orf119 HGNC ENSG00000179933 134 0 0.00 13 20 60.61 - - - C5orf45 0 genome.wustl.edu 37 5 179280249 179280249 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 5 179280249 179280249 G C SNP C5orf45 ENST00000403396 human ensembl 69_37n -1 known missense c.200 p.S67C 0.001 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 40 0 0.00 9 11 55.00 - - - C6orf70 0 genome.wustl.edu 37 6 170176590 170176590 + Silent SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 170176590 170176590 T A SNP C6orf70 ENST00000366773 human ensembl 69_37n +1 known silent c.1560 p.V520 0.000 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 79 0 0.00 44 7 13.46 - - - CACNA1C 0 genome.wustl.edu 37 12 2711019 2711019 + Splice_Site SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 2711019 2711019 G T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known splice_site c.2854-1 e22-1 1.000 - - - no_errors CACNA1C HGNC ENSG00000151067 147 0 0.00 57 32 35.96 - - - CDK19 0 genome.wustl.edu 37 6 110942346 110942346 + Silent SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 110942346 110942346 G C SNP CDK19 ENST00000368911 human ensembl 69_37n -1 known silent c.1338 p.G446 0.111 NULL 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 CDK19 HGNC ENSG00000155111 65 0 0.00 32 10 23.81 - - - CDKL5 0 genome.wustl.edu 37 X 18664154 18664154 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 18664154 18664154 G C SNP CDKL5 ENST00000379989 human ensembl 69_37n +1 known missense c.2741 p.R914T 0.005 NULL 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 CDKL5 HGNC ENSG00000008086 102 0 0.00 22 27 55.10 - - - CHD7 0 genome.wustl.edu 37 8 61773585 61773585 + Silent SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 8 61773585 61773585 G C SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known silent c.7731 p.G2577 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 95 0 0.00 20 16 44.44 - - - CHI3L1 0 genome.wustl.edu 37 1 203154430 203154430 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 203154430 203154430 C T SNP CHI3L1 ENST00000255409 human ensembl 69_37n -1 known missense c.139 p.D47N 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 93 0 0.00 67 13 16.25 - - - CHN2 0 genome.wustl.edu 37 7 29433303 29433303 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 29433303 29433303 C G SNP CHN2 ENST00000539406 human ensembl 69_37n +1 known missense c.378 p.N126K 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 94 0 0.00 41 10 19.61 - - - CNOT2 0 genome.wustl.edu 37 12 70726585 70726585 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 70726585 70726585 G A SNP CNOT2 ENST00000229195 human ensembl 69_37n +1 known missense c.608 p.G203E 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 117 0 0.00 45 33 42.31 - - - CR2 0 genome.wustl.edu 37 1 207648368 207648368 + Silent SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 207648368 207648368 T A SNP CR2 ENST00000367057 human ensembl 69_37n +1 known silent c.2523 p.S841 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 105 0 0.00 83 19 18.27 - - - CSGALNACT2 0 genome.wustl.edu 37 10 43650986 43650986 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 10 43650986 43650986 A G SNP CSGALNACT2 ENST00000374466 human ensembl 69_37n +1 known missense c.389 p.K130R 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 63 0 0.00 21 5 19.23 - - - CXorf21 0 genome.wustl.edu 37 X 30578016 30578016 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 30578016 30578016 C T SNP CXorf21 ENST00000378962 human ensembl 69_37n -1 known missense c.457 p.G153S 1.000 NULL NULL - no_errors CXorf21 HGNC ENSG00000120280 67 0 0.00 31 10 24.39 - - - DCP1A 0 genome.wustl.edu 37 3 53326366 53326366 + RNA SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 53326366 53326366 C A SNP DCP1A ENST00000294241 human ensembl 69_37n -1 known rna NULL NULL 0.938 - - - no_errors DCP1A HGNC ENSG00000162290 128 0 0.00 33 40 54.79 - - - DDX59 0 genome.wustl.edu 37 1 200613627 200613627 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 200613627 200613627 A G SNP DDX59 ENST00000429498 human ensembl 69_37n -1 putative missense c.347 p.I116T 0.751 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DDX59 HGNC ENSG00000118197 124 0 0.00 89 25 21.93 - - - DGUOK 0 genome.wustl.edu 37 2 74177737 74177737 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 74177737 74177737 G C SNP DGUOK ENST00000264093 human ensembl 69_37n +1 known missense c.469 p.E157Q 1.000 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC ENSG00000114956 115 0 0.00 45 17 27.42 - - - DHCR7 0 genome.wustl.edu 37 11 71155930 71155930 + Silent SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 11 71155930 71155930 G C SNP DHCR7 ENST00000355527 human ensembl 69_37n -1 known silent c.69 p.T23 0.000 NULL pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 142 0 0.00 20 25 55.56 - - - DIAPH2 0 genome.wustl.edu 37 X 96603145 96603145 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 96603145 96603145 G C SNP DIAPH2 ENST00000324765 human ensembl 69_37n +1 known missense c.2875 p.E959Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 114 0 0.00 3 11 78.57 - - - DKC1 0 genome.wustl.edu 37 X 153993196 153993196 + Missense_Mutation SNP T T G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 153993196 153993196 T G SNP DKC1 ENST00000369550 human ensembl 69_37n +1 known missense c.39 p.H13Q 1.000 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 196 0 0.00 41 36 46.75 - - - DYNLRB2 0 genome.wustl.edu 37 16 80577175 80577175 + Silent SNP A A C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 16 80577175 80577175 A C SNP DYNLRB2 ENST00000305904 human ensembl 69_37n +1 known silent c.6 p.A2 1.000 pirsf_Dynein_light_roadblock-type pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type - no_errors DYNLRB2 HGNC ENSG00000168589 117 0 0.00 8 19 70.37 - - - EML1 0 genome.wustl.edu 37 14 100384181 100384181 + Missense_Mutation SNP T T C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 100384181 100384181 T C SNP EML1 ENST00000557313 human ensembl 69_37n +1 known missense c.151 p.W51R 0.988 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region EML1 HGNC ENSG00000066629 149 0 0.00 33 21 38.89 - - - EML1 0 genome.wustl.edu 37 14 100384182 100384182 + Missense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 100384182 100384182 G T SNP EML1 ENST00000334192 human ensembl 69_37n +1 known missense c.1873 p.G625W 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 147 0 0.00 36 21 36.84 - - - ENSG00000173366 0 genome.wustl.edu 37 3 52255599 52255599 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 52255599 52255599 G C SNP ENSG00000173366 ENST00000494383 human ensembl 69_37n -1 putative missense c.3193 p.R1065G 0.027 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,pfam_Actin-bd_cofilin/tropomyosin,superfamily_TIR_dom,smart_Actin-bd_cofilin/tropomyosin,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region RP11-330H6.5 Clone_based_vega_gene ENSG00000173366 17 0 0.00 5 5 50.00 - - - ENSG00000266830 0 genome.wustl.edu 37 17 26574658 26574658 + RNA SNP T T G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 26574658 26574658 T G SNP ENSG00000266830 ENST00000579045 human ensembl 69_37n -1 known rna NULL NULL 0.980 - - - no_errors CTD-2008P7.8 Clone_based_vega_gene ENSG00000266830 61 0 0.00 24 12 33.33 - - - EPB41 0 genome.wustl.edu 37 1 29314146 29314146 + Nonsense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 29314146 29314146 T A SNP EPB41 ENST00000343067 human ensembl 69_37n +1 known nonsense c.197 p.L66* 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 53 0 0.00 7 20 71.43 - - - FAM22F 0 genome.wustl.edu 37 9 97082784 97082784 + Silent SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 9 97082784 97082784 C G SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known silent c.1074 p.L358 0.714 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 112 0 0.00 44 5 10.20 - - - FCRL4 0 genome.wustl.edu 37 1 157559026 157559026 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 157559026 157559026 C A SNP FCRL4 ENST00000271532 human ensembl 69_37n -1 known missense c.275 p.R92L 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC ENSG00000163518 74 0 0.00 54 7 11.48 - - - FGD6 0 genome.wustl.edu 37 12 95501370 95501370 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 95501370 95501370 C T SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.3302 p.R1101Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 129 1 0.77 100 15 13.04 - - - GALNT9 0 genome.wustl.edu 37 12 132905608 132905608 + Missense_Mutation SNP T T G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 132905608 132905608 T G SNP GALNT9 ENST00000328957 human ensembl 69_37n -1 known missense c.182 p.E61A 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 17 0 0.00 8 5 38.46 - - - GALNT9 0 genome.wustl.edu 37 12 132905684 132905684 + Nonsense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 132905684 132905684 C A SNP GALNT9 ENST00000328957 human ensembl 69_37n -1 known nonsense c.106 p.E36* 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 23 0 0.00 6 4 36.36 - - - GPRASP2 0 genome.wustl.edu 37 X 101971743 101971743 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 101971743 101971743 A T SNP GPRASP2 ENST00000332262 human ensembl 69_37n +1 known missense c.1946 p.Y649F 0.999 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 172 0 0.00 15 14 48.28 - - - GTF3C1 0 genome.wustl.edu 37 16 27483171 27483171 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 16 27483171 27483171 C A SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known missense c.4424 p.S1475I 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 76 0 0.00 21 23 52.27 - - - HCRT 0 genome.wustl.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 40336501 40336503 GCA - DEL HCRT ENST00000293330 human ensembl 69_37n -1 known in_frame_del c.67_65 p.L22in_frame_del 0.998:0.999:1.000 pfam_Orexin,pirsf_Orexin pfam_Orexin,pirsf_Orexin,prints_Orexin - no_errors HCRT HGNC ENSG00000161610 12 0 0.00 4 2 33.33 - - - HDAC6 0 genome.wustl.edu 37 X 48672886 48672886 + Missense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 48672886 48672886 G T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.888 p.R296S 0.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 118 0 0.00 35 40 53.33 - - - HNF1B 0 genome.wustl.edu 37 17 36099431 36099431 + Nonsense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 36099431 36099431 G A SNP HNF1B ENST00000225893 human ensembl 69_37n -1 known nonsense c.544 p.Q182* 1.000 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 120 0 0.00 31 13 29.55 - - - IGHJ5 0 genome.wustl.edu 37 14 106330033 106330033 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 106330033 106330033 C G SNP IGHJ5 ENST00000488476 human ensembl 69_37n -1 known missense c.40 p.V14L 0.379 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region IGHJ5 HGNC ENSG00000242472 46 0 0.00 9 7 43.75 - - - ITGA5 0 genome.wustl.edu 37 12 54803355 54803355 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 54803355 54803355 A G SNP ITGA5 ENST00000293379 human ensembl 69_37n -1 known missense c.376 p.S126P 0.268 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 50 0 0.00 3 6 66.67 - - - ITGB3 0 genome.wustl.edu 37 17 45376772 45376772 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 45376772 45376772 A G SNP ITGB3 ENST00000262017 human ensembl 69_37n +1 known missense c.1789 p.N597D 0.929 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 64 0 0.00 37 7 15.91 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185270573 185270573 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 185270573 185270573 C G SNP IVNS1ABP ENST00000367498 human ensembl 69_37n -1 known missense c.888 p.K296N 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 177 0 0.00 115 36 23.84 - - - KCNMA1 0 genome.wustl.edu 37 10 78674713 78674713 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 10 78674713 78674713 G A SNP KCNMA1 ENST00000372403 human ensembl 69_37n -1 known missense c.2675 p.S892F 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNMA1 HGNC ENSG00000156113 145 0 0.00 37 17 31.48 - - - KIAA1614 0 genome.wustl.edu 37 1 180886055 180886055 + Silent SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 180886055 180886055 G T SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known silent c.816 p.L272 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 72 0 0.00 30 7 18.92 - - - LAMP3 0 genome.wustl.edu 37 3 182841959 182841960 + Frame_Shift_Ins INS - - C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 182841959 182841960 - C INS LAMP3 ENST00000265598 human ensembl 69_37n -1 known frame_shift_ins c.1161_1160 p.I387fs 0.985:1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 101 0 0.00 39 5 11.36 - - - LIPE 0 genome.wustl.edu 37 19 42907078 42907078 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 19 42907078 42907078 C G SNP LIPE ENST00000244289 human ensembl 69_37n -1 known missense c.2648 p.G883A 0.511 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 52 0 0.00 18 11 37.93 - - - MAD2L1BP 0 genome.wustl.edu 37 6 43607982 43607982 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 43607982 43607982 G C SNP MAD2L1BP ENST00000451025 human ensembl 69_37n +1 known missense c.633 p.Q211H 0.180 pfam_MAD1/Cdc20-bound-Mad2-bd pfam_MAD1/Cdc20-bound-Mad2-bd - no_errors MAD2L1BP HGNC ENSG00000124688 46 0 0.00 13 14 51.85 - - - MCMDC2 0 genome.wustl.edu 37 8 67793181 67793181 + Silent SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 8 67793181 67793181 A G SNP MCMDC2 ENST00000422365 human ensembl 69_37n +1 known silent c.807 p.A269 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 57 0 0.00 23 9 28.12 - - - MED7 0 genome.wustl.edu 37 5 156565934 156565934 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 5 156565934 156565934 G C SNP MED7 ENST00000286317 human ensembl 69_37n -1 known missense c.509 p.S170C 1.000 NULL pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 141 0 0.00 47 39 45.35 - - - MSH2 0 genome.wustl.edu 37 2 47702380 47702380 + Missense_Mutation SNP A A C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 47702380 47702380 A C SNP MSH2 ENST00000233146 human ensembl 69_37n +1 known missense c.1976 p.K659T 1.000 pfam_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 60 0 0.00 25 11 30.56 - - - MUC5B 0 genome.wustl.edu 37 11 1269544 1269544 + Frame_Shift_Del DEL A A - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 11 1269544 1269544 A - DEL MUC5B ENST00000447027 human ensembl 69_37n +1 known frame_shift_del c.11443 p.T3815fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 59 0 0.00 3 2 33.33 - - - MYH7 0 genome.wustl.edu 37 14 23891449 23891449 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 23891449 23891449 G A SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.3185 p.T1062I 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 181 0 0.00 26 34 56.67 - - - MYH8 0 genome.wustl.edu 37 17 10301949 10301949 + Silent SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 10301949 10301949 G A SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known silent c.3990 p.N1330 0.879 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 120 0 0.00 5 24 82.76 - - - NAT8L 0 genome.wustl.edu 37 4 2065586 2065586 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 4 2065586 2065586 C T SNP NAT8L ENST00000423729 human ensembl 69_37n +1 known missense c.641 p.S214F 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 38 0 0.00 4 9 69.23 - - - NOP10 0 genome.wustl.edu 37 15 34635251 34635251 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 15 34635251 34635251 G C SNP NOP10 ENST00000328848 human ensembl 69_37n -1 known missense c.24 p.N8K 1.000 pfam_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC ENSG00000182117 190 0 0.00 21 30 58.82 - - - NPR2 0 genome.wustl.edu 37 9 35801760 35801760 + Silent SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 9 35801760 35801760 G A SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known silent c.1557 p.L519 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 108 0 0.00 65 15 18.75 - - - NUPR1 0 genome.wustl.edu 37 16 28549435 28549435 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 16 28549435 28549435 C T SNP NUPR1 ENST00000324873 human ensembl 69_37n -1 known missense c.154 p.A52T 0.112 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 118 1 0.83 25 26 50.00 - - - NYNRIN 0 genome.wustl.edu 37 14 24877309 24877309 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 24877309 24877309 C G SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.433 p.P145A 0.137 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 52 0 0.00 12 18 60.00 - - - OR13J1 0 genome.wustl.edu 37 9 35870175 35870175 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 9 35870175 35870175 G C SNP OR13J1 ENST00000377981 human ensembl 69_37n -1 known missense c.224 p.P75R 0.438 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 141 0 0.00 61 18 22.78 - - - OR5B3 0 genome.wustl.edu 37 11 58170265 58170265 + Silent SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 11 58170265 58170265 A G SNP OR5B3 ENST00000309403 human ensembl 69_37n -1 known silent c.618 p.F206 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 48 0 0.00 47 7 12.96 - - - P4HA3 0 genome.wustl.edu 37 11 74000171 74000171 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 11 74000171 74000171 C T SNP P4HA3 ENST00000331597 human ensembl 69_37n -1 known missense c.722 p.G241E 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 68 0 0.00 25 6 19.35 - - - PAX2 0 genome.wustl.edu 37 10 102584408 102584408 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 10 102584408 102584408 G A SNP PAX2 ENST00000370296 human ensembl 69_37n +1 known missense c.992 p.R331H 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 78 0 0.00 7 22 75.86 - - - PCDHA12 0 genome.wustl.edu 37 5 140256083 140256083 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 5 140256083 140256083 C T SNP PCDHA12 ENST00000398631 human ensembl 69_37n +1 known silent c.1026 p.D342 0.865 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 56 0 0.00 15 7 31.82 - - - PDE4B 0 genome.wustl.edu 37 1 66827453 66827453 + Frame_Shift_Del DEL G G - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 66827453 66827453 G - DEL PDE4B ENST00000329654 human ensembl 69_37n +1 known frame_shift_del c.997 p.E333fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 104 0 0.00 9 25 64.10 - - - PIGZ 0 genome.wustl.edu 37 3 196675280 196675280 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 196675280 196675280 G C SNP PIGZ ENST00000412723 human ensembl 69_37n -1 known missense c.488 p.S163C 0.672 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 69 0 0.00 20 18 47.37 - - - PIK3R3 0 genome.wustl.edu 37 1 46511674 46511674 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 46511674 46511674 G A SNP PIK3R3 ENST00000540385 human ensembl 69_37n -1 known missense c.1241 p.A414V 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 174 0 0.00 49 13 20.97 - - - PLEKHA6 0 genome.wustl.edu 37 1 204198106 204198106 + Frame_Shift_Del DEL C C - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 204198106 204198106 C - DEL PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known frame_shift_del c.2710 p.E904fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 90 0 0.00 57 8 12.31 - - - PLEKHA6 0 genome.wustl.edu 37 1 204230534 204230534 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 204230534 204230534 T A SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known missense c.424 p.S142C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 58 0 0.00 35 7 16.67 - - - PNPLA1 0 genome.wustl.edu 37 6 36262089 36262089 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 36262089 36262089 C T SNP PNPLA1 ENST00000457797 human ensembl 69_37n +1 known silent c.630 p.H210 0.766 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 47 0 0.00 13 12 46.15 - - - PPP1R12B 0 genome.wustl.edu 37 1 202418224 202418224 + Frame_Shift_Del DEL C C - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 1 202418224 202418224 C - DEL PPP1R12B ENST00000336894 human ensembl 69_37n +1 known frame_shift_del c.1775 p.N593fs 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 94 0 0.00 54 25 31.25 - - - PRKDC 0 genome.wustl.edu 37 8 48839765 48839765 + Nonsense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 8 48839765 48839765 G T SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known nonsense c.2408 p.S803* 0.093 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 142 0 0.00 35 40 53.33 - - - PTBP1 0 genome.wustl.edu 37 19 808581 808581 + Missense_Mutation SNP A A G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 19 808581 808581 A G SNP PTBP1 ENST00000356948 human ensembl 69_37n +1 known missense c.1282 p.K428E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 14 0 0.00 7 6 46.15 - - - PTCHD4 0 genome.wustl.edu 37 6 47846834 47846835 + Frame_Shift_Ins INS - - T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 47846834 47846835 - T INS PTCHD4 ENST00000339488 human ensembl 69_37n -1 known frame_shift_ins c.1746_1745 p.P583fs 1.000:1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 79 0 0.00 34 13 27.66 - - - PUM2 0 genome.wustl.edu 37 2 20512037 20512037 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 20512037 20512037 G A SNP PUM2 ENST00000361078 human ensembl 69_37n -1 known missense c.308 p.P103L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 91 0 0.00 26 10 27.78 - - - QARS 0 genome.wustl.edu 37 3 49136104 49136104 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 49136104 49136104 G A SNP QARS ENST00000306125 human ensembl 69_37n -1 known missense c.1885 p.R629C 1.000 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC ENSG00000172053 35 0 0.00 3 10 76.92 - - - RASSF2 0 genome.wustl.edu 37 20 4773210 4773210 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 20 4773210 4773210 C T SNP RASSF2 ENST00000379376 human ensembl 69_37n -1 known silent c.351 p.E117 0.009 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC ENSG00000101265 80 0 0.00 47 11 18.97 - - - RBM12 0 genome.wustl.edu 37 20 34241980 34241980 + Nonsense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 20 34241980 34241980 G C SNP RBM12 ENST00000359646 human ensembl 69_37n -1 known nonsense c.1265 p.S422* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 103 0 0.00 25 26 50.00 - - - REV3L 0 genome.wustl.edu 37 6 111694984 111694984 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 111694984 111694984 G C SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.4574 p.S1525C 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 176 0 0.00 59 26 30.59 - - - RFX6 0 genome.wustl.edu 37 6 117249959 117249959 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 117249959 117249959 C G SNP RFX6 ENST00000332958 human ensembl 69_37n +1 known missense c.2436 p.H812Q 0.945 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 126 0 0.00 58 22 27.50 - - - RNF208 0 genome.wustl.edu 37 9 140114992 140114992 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 9 140114992 140114992 C T SNP RNF208 ENST00000391553 human ensembl 69_37n -1 known missense c.673 p.G225S 0.970 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 40 0 0.00 10 6 37.50 - - - RPS6KA2 0 genome.wustl.edu 37 6 166831734 166831734 + Missense_Mutation SNP G G T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 166831734 166831734 G T SNP RPS6KA2 ENST00000510118 human ensembl 69_37n -1 known missense c.1992 p.D664E 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 58 0 0.00 17 11 39.29 - - - RYR3 0 genome.wustl.edu 37 15 34064213 34064213 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 15 34064213 34064213 A T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.8909 p.N2970I 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 91 0 0.00 13 24 63.16 - - - SAMD12 0 genome.wustl.edu 37 8 119391733 119391733 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 8 119391733 119391733 C G SNP SAMD12 ENST00000314727 human ensembl 69_37n -1 known missense c.529 p.G177R 0.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC ENSG00000177570 154 0 0.00 79 67 45.89 - - - SIGLEC9 0 genome.wustl.edu 37 19 51628890 51628890 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 19 51628890 51628890 C A SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known missense c.458 p.T153N 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 88 0 0.00 29 14 32.56 - - - SIX1 0 genome.wustl.edu 37 14 61113081 61113081 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 14 61113081 61113081 C T SNP SIX1 ENST00000247182 human ensembl 69_37n -1 known missense c.775 p.G259S 0.994 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX1 HGNC ENSG00000126778 92 0 0.00 15 22 59.46 - - - SLC25A39 0 genome.wustl.edu 37 17 42398003 42398003 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 42398003 42398003 C A SNP SLC25A39 ENST00000377095 human ensembl 69_37n -1 known missense c.788 p.G263V 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 94 0 0.00 40 13 24.53 - - - SLC38A4 0 genome.wustl.edu 37 12 47172298 47172298 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 47172298 47172298 C G SNP SLC38A4 ENST00000266579 human ensembl 69_37n -1 known missense c.979 p.V327L 0.993 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 53 0 0.00 25 12 32.43 - - - SLC39A5 0 genome.wustl.edu 37 12 56625219 56625219 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 12 56625219 56625219 C A SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known missense c.161 p.T54N 0.985 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 44 0 0.00 3 9 75.00 - - - SLC7A6 0 genome.wustl.edu 37 16 68330554 68330554 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 16 68330554 68330554 T A SNP SLC7A6 ENST00000219343 human ensembl 69_37n +1 known missense c.1294 p.F432I 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 234 0 0.00 15 43 72.88 - - - SNCAIP 0 genome.wustl.edu 37 5 121780266 121780266 + Silent SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 5 121780266 121780266 T A SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known silent c.1572 p.V524 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 104 0 0.00 34 11 24.44 - - - SNRNP70 0 genome.wustl.edu 37 19 49610881 49610881 + Splice_Site SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 19 49610881 49610881 G C SNP SNRNP70 ENST00000221448 human ensembl 69_37n +1 known splice_site c.578-1 e8-1 1.000 - - - no_errors SNRNP70 HGNC ENSG00000104852 57 0 0.00 3 14 82.35 - - - SOGA1 0 genome.wustl.edu 37 20 35415036 35415036 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 20 35415036 35415036 G A SNP SOGA1 ENST00000357779 human ensembl 69_37n -1 known missense c.4124 p.A1375V 0.121 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 108 1 0.92 28 23 45.10 - - - STARD3 0 genome.wustl.edu 37 17 37809976 37809976 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 37809976 37809976 C T SNP STARD3 ENST00000336308 human ensembl 69_37n +1 known silent c.192 p.I64 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 136 0 0.00 31 21 39.62 - - - SYNE1 0 genome.wustl.edu 37 6 152464831 152464831 + Missense_Mutation SNP A A C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 6 152464831 152464831 A C SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.25046 p.I8349R 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 102 0 0.00 46 9 16.36 - - - SYT17 0 genome.wustl.edu 37 16 19195047 19195047 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 16 19195047 19195047 G A SNP SYT17 ENST00000355377 human ensembl 69_37n +1 known missense c.529 p.E177K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 50 0 0.00 13 16 55.17 - - - TAF7L 0 genome.wustl.edu 37 X 100531448 100531448 + Missense_Mutation SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 100531448 100531448 C T SNP TAF7L ENST00000372907 human ensembl 69_37n -1 known missense c.1018 p.D340N 0.002 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 332 0 0.00 22 26 54.17 - - - TBX20 0 genome.wustl.edu 37 7 35242254 35242254 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 35242254 35242254 G C SNP TBX20 ENST00000408931 human ensembl 69_37n -1 known missense c.1132 p.P378A 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 135 0 0.00 75 23 23.47 - - - TES 0 genome.wustl.edu 37 7 115889294 115889294 + Missense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 115889294 115889294 G A SNP TES ENST00000358204 human ensembl 69_37n +1 known missense c.334 p.E112K 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 66 0 0.00 18 21 53.85 - - - TEX101 0 genome.wustl.edu 37 19 43920373 43920373 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 19 43920373 43920373 A T SNP TEX101 ENST00000253435 human ensembl 69_37n +1 known missense c.241 p.T81S 0.041 NULL pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 90 0 0.00 20 22 52.38 - - - TRANK1 0 genome.wustl.edu 37 3 36899136 36899136 + Missense_Mutation SNP T T C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 36899136 36899136 T C SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.1945 p.T649A 0.000 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 69 0 0.00 18 29 61.70 - - - TRIM4 0 genome.wustl.edu 37 7 99517012 99517012 + Frame_Shift_Del DEL C C - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 99517012 99517012 C - DEL TRIM4 ENST00000355947 human ensembl 69_37n -1 known frame_shift_del c.13 p.D5fs 0.986 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 12 0 0.00 4 2 33.33 - - - TRPM2 0 genome.wustl.edu 37 21 45789136 45789136 + Silent SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 21 45789136 45789136 G C SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.681 p.L227 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 36 0 0.00 7 7 50.00 - - - TXNDC8 0 genome.wustl.edu 37 9 113066787 113066787 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 9 113066787 113066787 C A SNP TXNDC8 ENST00000374511 human ensembl 69_37n -1 known missense c.281 p.R94I 0.998 NULL pfam_Thioredoxin_domain - no_errors TXNDC8 HGNC ENSG00000204193 185 0 0.00 57 42 42.42 - - - VPRBP 0 genome.wustl.edu 37 3 51440606 51440606 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 51440606 51440606 T A SNP VPRBP ENST00000335891 human ensembl 69_37n -1 known missense c.3089 p.D1030V 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 112 0 0.00 41 28 40.58 - - - WDFY3 0 genome.wustl.edu 37 4 85663022 85663022 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 4 85663022 85663022 C T SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known silent c.6126 p.V2042 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 64 0 0.00 11 12 52.17 - - - WDFY4 0 genome.wustl.edu 37 10 49988074 49988074 + Nonsense_Mutation SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 10 49988074 49988074 G A SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known nonsense c.3486 p.W1162* 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 153 0 0.00 22 22 50.00 - - - WFIKKN2 0 genome.wustl.edu 37 17 48913406 48913406 + Silent SNP G G A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 48913406 48913406 G A SNP WFIKKN2 ENST00000311378 human ensembl 69_37n +1 known silent c.108 p.P36 0.009 superfamily_Whey_acidic_protein_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 33 0 0.00 12 9 37.50 - - - YEATS2 0 genome.wustl.edu 37 3 183524710 183524710 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 3 183524710 183524710 C A SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.3841 p.Q1281K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 75 0 0.00 26 20 43.48 - - - YWHAG 0 genome.wustl.edu 37 7 75959386 75959386 + Silent SNP C C T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 75959386 75959386 C T SNP YWHAG ENST00000307630 human ensembl 69_37n -1 known silent c.252 p.A84 0.869 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 111 0 0.00 20 21 51.22 - - - ZBTB49 0 genome.wustl.edu 37 4 4322987 4322987 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 4 4322987 4322987 A T SNP ZBTB49 ENST00000337872 human ensembl 69_37n +1 known missense c.2242 p.T748S 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 54 0 0.00 31 7 18.42 - - - ZFP64 0 genome.wustl.edu 37 20 50769649 50769649 + Missense_Mutation SNP T T G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 20 50769649 50769649 T G SNP ZFP64 ENST00000216923 human ensembl 69_37n -1 known missense c.1082 p.H361P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 119 0 0.00 29 33 53.23 - - - ZFPM2 0 genome.wustl.edu 37 8 106814376 106814376 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 8 106814376 106814376 G C SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.2066 p.C689S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 66 0 0.00 30 11 26.83 - - - ZNF41 0 genome.wustl.edu 37 X 47308257 47308257 + Missense_Mutation SNP G G C TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab X 47308257 47308257 G C SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.942 p.S314R 0.387 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 ZNF41 HGNC ENSG00000147124 113 0 0.00 16 16 50.00 - - - ZNF786 0 genome.wustl.edu 37 7 148768278 148768278 + Missense_Mutation SNP C C G TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 7 148768278 148768278 C G SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known missense c.1586 p.R529T 0.001 smart_Znf_C2H2-like,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 ZNF786 HGNC ENSG00000197362 35 0 0.00 5 6 54.55 - - - ZNF830 0 genome.wustl.edu 37 17 33288605 33288605 + Missense_Mutation SNP C C A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 17 33288605 33288605 C A SNP ZNF830 ENST00000361952 human ensembl 69_37n +1 known missense c.20 p.A7D 0.000 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 47 0 0.00 27 5 15.62 - - - ZSWIM2 0 genome.wustl.edu 37 2 187693353 187693353 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6bb61dce-289d-4e39-8298-df5abe8049a2 c1697a30-99bb-4999-b91a-36d587c1faab 2 187693353 187693353 T A SNP ZSWIM2 ENST00000295131 human ensembl 69_37n -1 known missense c.1260 p.K420N 0.896 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 70 0 0.00 41 6 12.77 - - -